Sample records for diseases mycoses study

  1. Subcutaneous mycoses in Peru: a systematic review and meta-analysis for the burden of disease.

    PubMed

    Ramírez Soto, Max Carlos; Malaga, German

    2017-10-01

    There is a worrying lack of epidemiological data on the geographical distribution and burden of subcutaneous mycoses in Peru, hindering the implementation of surveillance and control programs. This study aimed to estimate the disease burden of subcutaneous mycoses in Peru and identify which fungal species were commonly associated with these mycoses. We performed a meta-analysis after a systematic review of the published literature in PubMed, LILACS, and SciELO to estimate the burden of subcutaneous mycoses in 25 regions in Peru. The disease burden was determined in terms of prevalence (number of cases per 100,000 inhabitants) and the number of reported cases per year per region. A total of 26 studies were eligible for inclusion. Results showed that sporotrichosis was the most common subcutaneous mycosis (99.7%), whereas lobomycosis, chromoblastomycosis, and subcutaneous phaeohyphomycosis were rare. Cases of eumycetoma and subcutaneous zygomycosis were not found. Of the 25 regions, the burden of sporotrichosis was estimated for four regions classified as endemic; in nine regions, only isolated cases were reported. The highest burden of sporotrichosis was in Apurimac (15 cases/100,000 inhabitants; 57 cases/year), followed by Cajamarca (3/100,000 inhabitants; 30/year), Cusco (0.5/100,000 inhabitants; 4/year), and La Libertad (0.2/100,000 inhabitants; 2/year). In two regions, the mycoses predominantly affected children. Sporotrichosis is the most common subcutaneous mycosis in Peru, with a high disease burden in Apurimac. Chromoblastomycosis, lobomycosis, and subcutaneous phaeohyphomycosis are rare mycoses in Peru. © 2017 The International Society of Dermatology.

  2. Subcutaneous mycoses. Part 1: subcutaneous mycoses due to non-dermatophytes.

    PubMed

    Romano, C

    2013-12-01

    Subcutaenous mycoses are increasingly reported in the literature for various reasons. Firstly, life expectancy has increased and even patients with cancer and/or immunodepression live longer, making them susceptible to these infections. Secondly, diagnostic techniques for mycoses have improved. Dermatologists have now begun to suspect subcutaneous mycoses when faced with certain clinical pictures and are aware of the need for histopathological examination and culture of lesion biopsy material on appropriate culture media. This review considers the clinical, histopathological and mycological aspects of the most common subcutaneous mycoses and outlines how to treat them. A better understanding of these mycoses enables early diagnosis and treatment of infections that are sometimes life-threatening.

  3. Deep mycoses in Amazon region.

    PubMed

    Talhari, S; Cunha, M G; Schettini, A P; Talhari, A C

    1988-09-01

    Patients with deep mycoses diagnosed in dermatologic clinics of Manaus (state of Amazonas, Brazil) were studied from November 1973 to December 1983. They came from the Brazilian states of Amazonas, Pará, Acre, and Rondônia and the Federal Territory of Roraima. All of these regions, with the exception of Pará, are situated in the western part of the Amazon Basin. The climatic conditions in this region are almost the same: tropical forest, high rainfall, and mean annual temperature of 26C. The deep mycoses diagnosed, in order of frequency, were Jorge Lobo's disease, paracoccidioidomycosis, chromomycosis, sporotrichosis, mycetoma, cryptococcosis, zygomycosis, and histoplasmosis.

  4. Neglected endemic mycoses.

    PubMed

    Queiroz-Telles, Flavio; Fahal, Ahmed Hassan; Falci, Diego R; Caceres, Diego H; Chiller, Tom; Pasqualotto, Alessandro C

    2017-11-01

    Fungi often infect mammalian hosts via the respiratory route, but traumatic transcutaneous implantation is also an important source of infections. Environmental exposure to spores of pathogenic fungi can result in subclinical and unrecognised syndromes, allergic manifestations, and even overt disease. After traumatic cutaneous inoculation, several fungi can cause neglected mycoses such as sporotrichosis, chromoblastomycosis, mycetoma, entomophthoramycosis, and lacaziosis. Most of these diseases have a subacute to chronic course and they can become recalcitrant to therapy and lead to physical disabilities, including inability to work, physical deformities, and amputations. For many years, paracoccidioidomycosis was considered the most prevalent endemic systemic mycosis in the Americas, but this situation might be changing with recognition of the worldwide presence of Histoplasma capsulatum. Both paracoccidioidomycosis and histoplasmosis can mimic several infectious and non-infectious medical conditions and lead to death if not recognised early and treated. Cutaneous implantation and systemic mycoses are neglected diseases that affect millions of individuals worldwide, especially in low-income countries where their management is suboptimum because challenges in diagnosis and therapeutic options are substantial issues. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Coccidioidomycosis and other endemic mycoses in Mexico.

    PubMed

    Laniado-Laborín, Rafael

    2007-12-31

    The endemic mycoses traditionally include coccidioidomycosis, histoplasmosis, blastomycosis and paracoccidioidomycosis. Although sporotrichosis and chromomycosis are technically not included among the endemic mycoses, they are frequently diagnosed in Mexico. Most systemic endemic mycoses are a consequence of inhaling the fungi, while subcutaneous mycoses are acquired through the inoculation of vegetable matter or soil containing the organism. Coccidioidomycosis is caused by Coccidioides spp., a dimorphic pathogenic fungus. Approximately 60% of exposures result in asymptomatic infection; in the rest there are protean manifestations that range from a benign syndrome also known as "Valley Fever" to progressive pulmonary or extrapulmonary disease. Histoplasmosis, caused by the dimorphic fungus Histoplasma capsulatum, is endemic to the Americas. Pulmonary histoplasmosis manifestations are protean, ranging from a brief period of malaise to a severe, prolonged illness. The spectrum of illness in disseminated histoplasmosis ranges from a chronic, intermittent course to an acute and rapidly fatal infection. Paracoccidioidomycosis is a chronic, granulomatous systemic disease caused by Paracoccidioides brasiliensis that characteristically produces a primary pulmonary infection, often asymptomatic, and then disseminates to form ulcerative granulomata of the oral, nasal and occasionally the gastrointestinal mucosa. Sporotrichosis, caused by Sporothrix schenckii, has diverse clinical manifestations; the most frequent is the lymphocutaneous form. Generally, infection results from inoculation of the fungus through thorns, splinters, scratches and small traumas. Chromomycosis (Chromoblastomycosis) is a slowly progressive cutaneous and subcutaneous mycosis attributed to various saprophyte Hypomycetes fungi. The primary lesion is also thought to develop as a result of percutaneous traumatic inoculation.

  6. [Superficial mycoses: comparative study between type 2 diabetic patients and a non-diabetic control group].

    PubMed

    García-Humbría, Leila; Richard-Yegres, Nicole; Pérez-Blanco, Maigualida; Yegres, Francisco; Mendoza, Mireya; Acosta, Arnaldo; Hernández, Rosaura; Zárraga, Eluz

    2005-03-01

    Superficial mycoses are considered to affect more frequently patients with type 2 diabetes mellitus (DM-2), specially onychomycosis and Tinea pedis. The purpose of this study was to compare the dermatophytoses, candidiasis and Pitiriasis versicolor frequency between 40 patients with DM-2 and 40 healthy persons of either sex, 40 years old or more. Clinical, metabolic, mycologic and inmunologic studies against Candida albicans, were carried out. Both diabetics 75% (30/40) and controls 65% (26/40) presented a high frequency of superficial mycoses (no significant difference p = 0.329). Pitiriasis versicolor was not detected in diabetic patients. They presented Tinea unguium, concomitant with Tinea pedis, with a higher frequency. The predominant dermatophyte was Trichophyton rubrum 18/23 (78%) in diabetics and 8/16 (50%) in non diabetics. Candida was isolated as commensal from oral mucous: 23/40 (58%) in diabetics and 21/40 (52%) in non diabetics (serotipo A was the more frequent), and from onychomycosis: 11/40 (28%) in diabetics and 12/40 (30%) in non diabetics. The immunological response was the same in both groups: celular 100%, humoral 20%. No statistical correlation among superficial mycoses, blood glucose level, glycosylated hemoglobin values or the time suffering the disease was observed. The high susceptibility to dermatophytes and Candida sp. infection showed to be associated with age and no with the diabetic type 2 condition in those patients.

  7. [Immunodiagnosis of endemic mycoses and bronchopulmonary aspergillosis: a multicenter study in Argentina].

    PubMed

    Canteros, C E; Rivas, M C; Soria, M; Lee, W; Perrotta, D; Rodero, L; Davel, G

    2004-01-01

    In order to contribute to the knowledge of the relative frequency of chronic fungal diseases and assess the performance of diagnostic laboratories in Argentina, a multicenter study was performed with the participation of 25 medical centers located in 12 different provinces and Buenos Aires City. Between 04-01-2000 and 03-30-2001, 965 serum specimens from patients clinically suspected of having histoplasmosis (HP), paracoccidioidomycosis (PCM), coccidioidomycosis (CM) or aspergilosis were analyzed. Agar immunodiffusion tests (IDD) were done locally. All positive and 35% of negative sera were retested in the reference center. Results of laboratories of origin showed 98.8% concordance with those of reference center. Antibodies against any of the etiological agents were detected in 120 specimens from 98 patients. Endemic mycoses (HP, PCM and CM) were diagnosed in 70 patients (71.4%) and aspergilosis in 28 (28.6%). The frequencies of the different mycoses in decreasing order were PCM 47 patients (47.9%), aspergilosis 28 patients (28.6%), HP 13 patients (13.3%) and CM 10 patients (10.2%). The study was carried out on a voluntary basis and some areas of the country were not represented. However, the frequencies were in range with the expected rates in the population under study.

  8. Cutaneous Involvement in the Deep Mycoses: A Literature Review. Part I-Subcutaneous Mycoses.

    PubMed

    Carrasco-Zuber, J E; Navarrete-Dechent, C; Bonifaz, A; Fich, F; Vial-Letelier, V; Berroeta-Mauriziano, D

    2016-12-01

    The deep mycoses are uncommon in our setting. These fungal infections occur mainly in immunosuppressed patients or in tropical climates, and include subcutaneous infections and systemic infections. The skin is always involved in the former. In the first part of this review, we describe the main subcutaneous mycoses: sporotrichosis, chromoblastomycosis, mycetoma, phaeohyphomycosis, hyalohyphomycosis, and lacaziosis. Early recognition and treatment is important, as these infections are frequently associated with high morbidity. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Superficial veterinary mycoses.

    PubMed

    Bond, Ross

    2010-03-04

    Dermatophytes are significant pathogens in animal health due to their zoonotic potential, the economic consequences of infection in farm animal and fur production systems, and the distressing lesions they cause in small domestic pets. Malassezia spp are normal commensal and occasional pathogens of the skin of many veterinary species. Malassezia pachydermatis is a very common cause of otitis and pruritic dermatitis in dogs but is of less importance in other veterinary species. Dermatophytosis, and Malassezia otitis and dermatitis, represent the superficial mycoses of greatest significance in companion and farm animal health. Although the dermatophytes and Malassezia spp both exist in the stratum corneum of mammalian skin, there are important differences in the epidemiology, pathogenesis, and clinical consequences of infection. Dermatophytes are significant due to their zoonotic potential, the economic consequences of infection in farm animal and fur production systems, and the concern for owners of pets with inflammatory skin disease that is sometimes severe. Malassezia spp are normal commensals and occasional pathogens of the skin for many veterinary species, and M pachydermatis is a very common cause of otitis and pruritic dermatitis in dogs. This chapter will focus on the epidemiologic, clinical, diagnostic, and therapeutic aspects of dermatophytosis and Malassezia dermatitis in veterinary species. There are generally only sporadic reports of other superficial mycoses, such as candidiasis, piedra, and Rhodotorula dermatitis in veterinary medicine, and these are not included here. Copyright 2010 Elsevier Inc. All rights reserved.

  10. [Mycoses in Venezuela: Working Groups in Mycology reported cases (1984-2010)].

    PubMed

    Martínez Méndez, Dilia; Hernández Valles, Rosaura; Alvarado, Primavera; Mendoza, Mireya

    2013-01-03

    In 1984 the Venezuelan Work Groups in Mycology (VWGM) were created introducing an innovative approach to the study of the mycoses in Venezuela. To study the occurrence of the mycoses in Venezuela. Review the reported cases of mycoses by the newsletter Boletín Informativo Las Micosis en Venezuela (VWGM) from 1984 to 2010. The data collected showed 36,968 reported cases of superficial mycoses, 1,989 of deep systemic cases, and 822 of localized mycoses. Pityriasis dermatophytosis was the most common superficial infection, and paracoccidioidomycosis and histoplasmosis the most frequent deep systemic infection. Chromoblastomycosis was the most frequently diagnosed subcutaneous infection. The data provided showed the distribution by geographical area for each of the fungal infections studied, which may help to establish the endemic areas. Superficial mycosis is a public health problem due to its high morbidity and is probably responsible for some of the outbreaks in high-risk groups. Paracoccidioidomycosis and histoplasmosis were reported more often, which agrees with earlier reports prior to the formation of the VWGM. Cases of sporotrichosis and chromoblastomycosis in Venezuela can be considered unique due to the high number of cases. This study highlights the contribution of the VWGM to the behavior of the mycoses in Venezuela, its incidence, prevalence, and the recognition of these infections as a problem of public health importance. The VWGM should keep working in this endeavor, not only reporting new cases, but also unifying the clinical and epidemiological criteria, in order to properly monitor the evolving epidemiological changes reported in these types of infections. Copyright © 2012 Revista Iberoamericana de Micología. Published by Elsevier España, S.L. All rights reserved.

  11. Current Perspectives on Ophthalmic Mycoses

    PubMed Central

    Thomas, Philip A.

    2003-01-01

    Fungi may infect the cornea, orbit and other ocular structures. Species of Fusarium, Aspergillus, Candida, dematiaceous fungi, and Scedosporium predominate. Diagnosis is aided by recognition of typical clinical features and by direct microscopic detection of fungi in scrapes, biopsy specimens, and other samples. Culture confirms the diagnosis. Histopathological, immunohistochemical, or DNA-based tests may also be needed. Pathogenesis involves agent (invasiveness, toxigenicity) and host factors. Specific antifungal therapy is instituted as soon as the diagnosis is made. Amphotericin B by various routes is the mainstay of treatment for life-threatening and severe ophthalmic mycoses. Topical natamycin is usually the first choice for filamentous fungal keratitis, and topical amphotericin B is the first choice for yeast keratitis. Increasingly, the triazoles itraconazole and fluconazole are being evaluated as therapeutic options in ophthalmic mycoses. Medical therapy alone does not usually suffice for invasive fungal orbital infections, scleritis, and keratitis due to Fusarium spp., Lasiodiplodia theobromae, and Pythium insidiosum. Surgical debridement is essential in orbital infections, while various surgical procedures may be required for other infections not responding to medical therapy. Corticosteroids are contraindicated in most ophthalmic mycoses; therefore, other methods are being sought to control inflammatory tissue damage. Fungal infections following ophthalmic surgical procedures, in patients with AIDS, and due to use of various ocular biomaterials are unique subsets of ophthalmic mycoses. Future research needs to focus on the development of rapid, species-specific diagnostic aids, broad-spectrum fungicidal compounds that are active by various routes, and therapeutic modalities which curtail the harmful effects of fungus- and host tissue-derived factors. PMID:14557297

  12. Defining Responses to Therapy and Study Outcomes in Clinical Trials of Invasive Fungal Diseases: Mycoses Study Group and European Organization for Research and Treatment of Cancer Consensus Criteria

    PubMed Central

    Segal, Brahm H.; Herbrecht, Raoul; Stevens, David A.; Ostrosky-Zeichner, Luis; Sobel, Jack; Viscoli, Claudio; Walsh, Thomas J.; Maertens, Johan; Patterson, Thomas F.; Perfect, John R.; Dupont, Bertrand; Wingard, John R.; Calandra, Thierry; Kauffman, Carol A.; Graybill, John R.; Baden, Lindsey R.; Pappas, Peter G.; Bennett, John E.; Kontoyiannis, Dimitrios P.; Cordonnier, Catherine; Viviani, Maria Anna; Bille, Jacques; Almyroudis, Nikolaos G.; Wheat, L. Joseph; Graninger, Wolfgang; Bow, Eric J.; Holland, Steven M.; Kullberg, Bart-Jan; Dismukes, William E.; De Pauw, Ben E.

    2009-01-01

    Invasive fungal diseases (IFDs) have become major causes of morbidity and mortality among highly immunocompromised patients. Authoritative consensus criteria to diagnose IFD have been useful in establishing eligibility criteria for antifungal trials. There is an important need for generation of consensus definitions of outcomes of IFD that will form a standard for evaluating treatment success and failure in clinical trials. Therefore, an expert international panel consisting of the Mycoses Study Group and the European Organization for Research and Treatment of Cancer was convened to propose guidelines for assessing treatment responses in clinical trials of IFDs and for defining study outcomes. Major fungal diseases that are discussed include invasive disease due to Candida species, Aspergillus species and other molds, Cryptococcus neoformans, Histoplasma capsulatum, and Coccidioides immitis. We also discuss potential pitfalls in assessing outcome, such as conflicting clinical, radiological, and/or mycological data and gaps in knowledge. PMID:18637757

  13. A Clinicomycological Study of Cutaneous Mycoses in Sawai Man Singh Hospital of Jaipur, North India

    PubMed Central

    Vyas, Aruna; Pathan, Nazneen; Sharma, Rajni; Vyas, Leela

    2013-01-01

    Background: Because of the widespread prevalence of the various cutaneous mycoses in a tropical country like India, it is important to know their patterns of etiology and clinical presentations. Aim: The present study was conducted in order to identify the clinical pattern of various cutaneous mycoses and the common etiological agents affecting the study populations admitted in SMS Hospital, Jaipur, in North India. Materials and Methods: Skin scrapings and hair and nail samples of 160 patients with clinical suspicion of dermatophytosis were collected and subjected to direct microscopy and were cultured in Sabouraud's dextrose agar. Fungal species were identified by macroscopic and microscopic examination. Data were presented as simple descriptive statistics (SPSS, Version 17.0 (Chicago Il, USA). Epi Info Version 3.5.1 (CDC, Atlanta, Georgia, USA). Results: Among the 160 clinically suspected patients of cutaneous mycoses, 60 (37.5%) were confirmed by culture. Dermatophytes and non-dermatophytes (NDM) were isolated from 66.6% (40/60) and 33.3% (20/60) of the positive cultures, respectively. Tinea capitis (50%) 30/60 was the most frequent clinical pattern and genus Trichophyton violaceum 32.5% (13/40) was the most common isolate in dermatophytosis-positive samples. Among the patients positive for NDM by culture, Tinea unguium 35% (7/20) was the most common clinical presentation and Aspergillus species 40% (8/20) were the most common etiological agents isolated. Conclusion: Although dermatophtes have been isolated from the cases of cutaneous mycoses all over the world with various frequencies, the role of NDM in the different cutaneous infections other than those of nail infections need to be evaluated. PMID:24380015

  14. Updates on Aspergillus, Pneumocystis and other opportunistic pulmonary mycoses.

    PubMed

    Curbelo, Jose; Galván, Jose María; Aspa, Javier

    2015-12-01

    Mycoses are serious diseases with potentially fatal outcome. The introduction of immunosuppressive treatments and life support techniques has led to a growing prevalence of different degrees of immunosuppression. Compromised immune response is the primary risk factor for the development of opportunistic mycoses. Early diagnosis and treatment are crucial for improving prognosis. However, isolation in cultures or identification using antigen detection techniques cannot distinguish between colonization and invasive infection, and the clinical status of the patient often prevents biopsy sampling. Clinicians thus find themselves in an uncertain position, requiring them to quickly recognize clinical and radiological signs and interpret microbiological results in context. The aim of this review is to provide a general overview of the profile of patients susceptible to these infections, the role of the immune system and, in more detail, the major diagnostic developments that have gained most acceptance and recognition among the scientific community. Copyright © 2014 SEPAR. Published by Elsevier Espana. All rights reserved.

  15. Causative agents of nosocomial mycoses.

    PubMed

    Tomsiková, A

    2002-01-01

    In the last few years mycoses have been caused by fungi formerly considered to be harmless for humans. They cause diseases of plants and insects; some of them are also used in the industry. They are now usually called "emerging fungi". We investigated this flora with respect to their potential to cause infections in hospitals. These fungi are present in the air, on medical objects and instrumentation, in the respiratory tract and on the hands of hospital staff; other sources have been identified in the use of iatrogenic methods. Mycotic diseases, their risk factors, their clinical pictures, and spectra of agents were analyzed in 1990-2000; the results were compared with data in the literature. Transplantations were the most frequent risk factors, fungemia and abscess the most frequent clinical picture and filamentous fungi (genera Absidia, Acremonium, Alternaria, Apophysomyces, Aspergillus, Bipolaris, Cladophialophora, Cunninghamella, Exserohilum, Fusarium, Chaetomium, Chrysosporium, Lecythophora, Ochroconis, Paecilomyces, Pythium, Rhizopus, Scedosporium, Scopulariopsis) were the most frequent agents of nosocomial infections. These filamentous fungi and also some yeasts (genera Candida, Cryptococcus, Trichosporon) bring about different clinical syndromes in both immunocompromised and immunocompetent patients.

  16. Cutaneous Mycoses: Management and Education in Universities and Their Clinics in Japan.

    PubMed

    Mochizuki, Takashi

    2016-01-01

    In May 2015, information on the current status of mycological examinations in university clinics, and the education of students, and junior and senior residents in Japanese universities was gathered using a questionnaire, which was completed by 98 of the 117 (83.8%) professors or directors in charge of dermatology departments in Japan that were included in the survey.The questionnaire items were divided into three parts; namely, Part A, inspection methods used for diagnosis of cutaneous mycoses in each university clinic; Part B, need for a network and construction of a support system for medical care and education; and Part C, status of education of undergraduate students and residents. Some of these questions are based on a similar survey in 2007. In Part A, it was found that only 3% of university clinics performed fungal culture for all or most cases, indicating a drop from the previous study (9% in 2007). Meanwhile, responses indicating that fungal culture was almost or completely done away with accounted for about 36%. Based on type of mycoses, fungal culture for deep mycoses was performed in about 83% of the facilities. However, the percentage for superficial mycoses was very low, wherein only 39% of the facilities performed cultures even for tinea capitis. Trichophyton tonsurans infection was "often" or "sometimes" diagnosed in 22% of the facilities, with the other 78% reporting "no" or "almost no cases" of T. tonsurans infection diagnosed. In Part B, it was found that 96% of respondents (up from 89% in 2007) desired help from the university network, including aid in identifying fungal isolates, diagnosing rare fungal infections, and basic training in medical mycology of young doctors (senior residents in university hospitals). In Part C, it was found that education in direct KOH preparation for senior residents was satisfactory in about 80% of the facilities. However, about 45% of respondents reported that majority or all of the senior residents in their

  17. Clinicomycological Characterization of Superficial Mycoses from a Tertiary Care Hospital in Nepal.

    PubMed

    Khadka, Sundar; Sherchand, Jeevan Bahadur; Pokharel, Dinesh Binod; Pokhrel, Bharat Mani; Mishra, Shyam Kumar; Dhital, Subhash; Rijal, Basista

    2016-01-01

    Background . Superficial mycosis is a common fungal infection worldwide, mainly caused by dermatophytes. However, the prevalence of species varies geographically. In addition, fungal treatment is best guided according to species isolated. This study was carried out to determine the clinical as well as mycological profile of superficial mycoses in a tertiary care hospital, Nepal. Methods . This was a prospective case-control laboratory based study conducted over a period of six months from January to June 2014 at Tribhuvan University Teaching Hospital, Nepal. A total of 200 specimens were collected from the patients suspected of superficial mycoses. The specimens were macroscopically as well as microscopically examined. The growth was observed up to 4 weeks. Results. Out of total 200 specimens from the patients suspected of superficial mycoses, tinea corporis 50 (25%) was most common clinical types. KOH mount was positive in 89 (44.5%) and culture was positive in 111 (55.5%). Trichophyton mentagrophytes 44 (39.6%) was the most common isolate. Conclusions. The diagnostic yields of KOH mount and culture were found to be complementary to each other. Thus both the methods added with clinical findings are equally important to establish superficial mycosis.

  18. Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

    PubMed Central

    Lee, Pamela P.; Lau, Yu-Lung

    2017-01-01

    The global burden of fungal diseases has been increasing, as a result of the expanding number of susceptible individuals including people living with human immunodeficiency virus (HIV), hematopoietic stem cell or organ transplant recipients, patients with malignancies or immunological conditions receiving immunosuppressive treatment, premature neonates, and the elderly. Opportunistic fungal pathogens such as Aspergillus, Candida, Cryptococcus, Rhizopus, and Pneumocystis jiroveci are distributed worldwide and constitute the majority of invasive fungal infections (IFIs). Dimorphic fungi such as Histoplasma capsulatum, Coccidioides spp., Paracoccidioides spp., Blastomyces dermatiditis, Sporothrix schenckii, Talaromyces (Penicillium) marneffei, and Emmonsia spp. are geographically restricted to their respective habitats and cause endemic mycoses. Disseminated histoplasmosis, coccidioidomycosis, and T. marneffei infection are recognized as acquired immunodeficiency syndrome (AIDS)-defining conditions, while the rest also cause high rate of morbidities and mortalities in patients with HIV infection and other immunocompromised conditions. In the past decade, a growing number of monogenic immunodeficiency disorders causing increased susceptibility to fungal infections have been discovered. In particular, defects of the IL-12/IFN-γ pathway and T-helper 17-mediated response are associated with increased susceptibility to endemic mycoses. In this review, we put together the various forms of endemic mycoses on the map and take a journey around the world to examine how cellular and molecular defects of the immune system predispose to invasive endemic fungal infections, including primary immunodeficiencies, individuals with autoantibodies against interferon-γ, and those receiving biologic response modifiers. Though rare, these conditions provide importance insights to host defense mechanisms against endemic fungi, which can only be appreciated in unique climatic and

  19. [Superficial mycoses: casuistry of the Mycology Department of the Instituto Nacional de Higiene "Rafael Rangel", Caracas, Venezuela (2001-2014)].

    PubMed

    Capote, Ana María; Ferrara, Giuseppe; Panizo, María Mercedes; García, Nataly; Alarcón, Víctor; Reviakina, Vera; Dolande, Maribel

    2016-03-01

    The superficial mycoses are very common infectious diseases and therefore are a frequent reason for medical consultation. The aim of this study was to determine the diagnostic frequency of superficial mycoses in the Mycology Department of the Instituto Nacional de Higiene "Rafael Rangel" during 14 years (2001-2014). A retrospective cross-sectional study was performed to review the mycological records of patients with presumptive diagnosis of superficial mycosis. Nails, hairs and epidermal scales were the processed samples. The identification of fungi was performed by macro and microscopic observation of colonies and biochemical and physiological tests, as required of the isolated agent. For the investigation of Malassezia spp. only direct examination was performed. Of the 3 228 samples processed, 1 098 (34%) were positive and their distribution according to the etiological agent was: dermatophytes 79.5%; 10.9% yeasts; non-dermatophytes fungi 5.1% and 4.5% Malassezia spp. The most frequently isolated dermatophyte was Trichophyton rubrum Complex (70.1%), followed by T mentagrophytes complex (15.1%), Microsporum canis (9.4%) and Epidermophyton floccosum (4%). The most frequent ringworms Were: Tinea unguium (66.8%), followed by Tineapedis (16.4%) and Tinea capitis (8.1%). Candida parapsilosis complex (37.5%) was the most frequently isolated yeast and Fusarium spp. (53.6%) was the most isolated among non-dermatophyte fungi, followed by Aspergillus spp. (19.6%) and Acremonium spp. (10.7%). The identification of the etiological agent is essential to guide appropriate treatment. This study constitutes an important contribution to the knowledge of the epidemiology of superficial mycoses in our country.

  20. Laboratory and clinical assessment of ketoconazole in deep-seated mycoses.

    PubMed

    Drouhet, E; Dupont, B

    1983-01-24

    Forty-eight cases of deep mycoses were studied and treated with ketoconazole, each with in vitro evaluation of the minimum inhibitory concentrations (MIC) of the causative fungi, in vivo pharmacokinetic, clinical, and mycologic evaluations, several months to two years after the treatment was stopped. Excellent results were obtained in six cases of chronic mucocutaneous candidiasis, with restoration of immunologic disturbances; 23 cases of systemic candidiasis, including new aspects of heroin addicts with cutaneous, ocular, or osteoarticular manifestations; eight cases of histoplasmosis, five due to Histoplasma capsulatum and three to Histoplasma duboisii, with cure in seven and remission in one; one case of African blastomycosis (Blastomyces dermatitidis); three cases of mycetoma, two due to Monosporium apiospermum, one due to a dematiacious fungus; three cases of entomophthoromycosis with cure; one case of fungal arthritis, due to new hyphomycete similar to M. apiospermum, pathogenic for laboratory animals; one case of Drechslera longirostrata causing vertebral arthritis, following a fungal endocarditis and cured by combination of ketoconazole with amphotericin B, each agent alone being ineffective; and other deep mycoses.

  1. A prodrug approach to the use of coumarins as potential therapeutics for superficial mycoses.

    PubMed

    Mercer, Derry K; Robertson, Jennifer; Wright, Kristine; Miller, Lorna; Smith, Shane; Stewart, Colin S; O Neil, Deborah A

    2013-01-01

    Superficial mycoses are fungal infections of the outer layers of the skin, hair and nails that affect 20-25% of the world's population, with increasing incidence. Treatment of superficial mycoses, predominantly caused by dermatophytes, is by topical and/or oral regimens. New therapeutic options with improved efficacy and/or safety profiles are desirable. There is renewed interest in natural product-based antimicrobials as alternatives to conventional treatments, including the treatment of superficial mycoses. We investigated the potential of coumarins as dermatophyte-specific antifungal agents and describe for the first time their potential utility as topical antifungals for superficial mycoses using a prodrug approach. Here we demonstrate that an inactive coumarin glycone, esculin, is hydrolysed to the antifungal coumarin aglycone, esculetin by dermatophytes. Esculin is hydrolysed to esculetin β-glucosidases. We demonstrate that β-glucosidases are produced by dermatophytes as well as members of the dermal microbiota, and that this activity is sufficient to hydrolyse esculin to esculetin with concomitant antifungal activity. A β-glucosidase inhibitor (conduritol B epoxide), inhibited antifungal activity by preventing esculin hydrolysis. Esculin demonstrates good aqueous solubility (<6 g/l) and could be readily formulated and delivered topically as an inactive prodrug in a water-based gel or cream. This work demonstrates proof-of-principle for a therapeutic application of glycosylated coumarins as inactive prodrugs that could be converted to an active antifungal in situ. It is anticipated that this approach will be applicable to other coumarin glycones.

  2. A Prodrug Approach to the Use of Coumarins as Potential Therapeutics for Superficial Mycoses

    PubMed Central

    Mercer, Derry K.; Robertson, Jennifer; Wright, Kristine; Miller, Lorna; Smith, Shane; Stewart, Colin S.; O′Neil, Deborah A.

    2013-01-01

    Superficial mycoses are fungal infections of the outer layers of the skin, hair and nails that affect 20–25% of the world's population, with increasing incidence. Treatment of superficial mycoses, predominantly caused by dermatophytes, is by topical and/or oral regimens. New therapeutic options with improved efficacy and/or safety profiles are desirable. There is renewed interest in natural product-based antimicrobials as alternatives to conventional treatments, including the treatment of superficial mycoses. We investigated the potential of coumarins as dermatophyte-specific antifungal agents and describe for the first time their potential utility as topical antifungals for superficial mycoses using a prodrug approach. Here we demonstrate that an inactive coumarin glycone, esculin, is hydrolysed to the antifungal coumarin aglycone, esculetin by dermatophytes. Esculin is hydrolysed to esculetin β-glucosidases. We demonstrate that β-glucosidases are produced by dermatophytes as well as members of the dermal microbiota, and that this activity is sufficient to hydrolyse esculin to esculetin with concomitant antifungal activity. A β-glucosidase inhibitor (conduritol B epoxide), inhibited antifungal activity by preventing esculin hydrolysis. Esculin demonstrates good aqueous solubility (<6 g/l) and could be readily formulated and delivered topically as an inactive prodrug in a water-based gel or cream. This work demonstrates proof-of-principle for a therapeutic application of glycosylated coumarins as inactive prodrugs that could be converted to an active antifungal in situ. It is anticipated that this approach will be applicable to other coumarin glycones. PMID:24260474

  3. [Variation in mycoses frequency in Mexico].

    PubMed

    Méndez Tovar, L J; López Martínez, R; Macotela Ruiz, E; Manzano Gayosso, P; Serrano Jaén, L; Carmona Castañón, A; Mondragón Gonźalez, R

    1999-01-01

    We show the records about diagnosed mycoses in a hospital in Mexico City in two periods of time: from 1967 to 1977 and from 1993 to 1997. In the former 15,429 patients were studied and in the latter, 5,998. Striking differences among frequency, etiological agents and clinical outcome, were observed. The most frequent infections in both lapses were the superficial ones, however the most recent scores showed a notorious increase in opportunistic infections. We diagnosed only one histoplasmosis case during the period from 1993 to 1997. Etiological agents have also changed, dermatophytes frequency like Trichophyton mentagrophytes and T. tonsurans have diminished while T. rubrum increased from 60% to 80% of the whole dermatophytoses cases. Even though Criptococcus neoformans used to be the only agent causing criptococosis, in the most recent report we found that C. laurentii, C. terreus and C. unigutulatus were also isolated. Another important difference was mortality in rhinocerebral mucormicosis: twenty years ago it was fairly 80%, nowadays it has decreased to 20%.

  4. [Dermatomycoses and medically important fungi that are necessary subjects of study for dermatology specialists -a personal experience].

    PubMed

    Nishikawa, Takeji

    2015-01-01

    Among the numerous skin diseases, dermatomycosis is the one caused by fungus (parasite) infecting the skin (host) . Once diagnosis is made, dermatomycosis can be cured with the use of appropriate anti-fungal drugs. Therefore, it is a much more easily treatable disease compareds with intractable skin diseases. From his own experience, the author shows that dermatomycoses are good subspecialties to deal with because many of them are controllable. At the same time, the author points out that basic research on medically important fungi needs to be done as collaborative studies with basic scientists and dermatology specialists. This brief review covers several topics including diagnostics of medical mycoses, imported medical mycoses, tinea, and cutaneous deep mycoses.

  5. [Superficial mycoses in patients from Anzoátegui state, Venezuela, period 2002-2012].

    PubMed

    Lemus-Espinoza, Druvic; Teresa Maniscalchi, María; Villarroel, Oskarina; Bónoli, Stefano B; Wahab, Fadi; García, Oswaldo

    2014-12-01

    Superficial fungal diseases that affect the skin and its appendages are frequently seen in basic triage and in dermatology services. These diseases are distributed in Venezuela with an incidence of 92.9%. The aim of this study was to determine the genera and species that cause dermatomycoses in residents of Anzoátegui state, Venezuela, during the period 2002-2012. A total of 4257 patients with a presumptive diagnosis of superficial mycoses were studied, with ages from 7 months to 79 years. The overall prevalence was 30.9%. The most frequent were dermatophytosis (44.7%). M. canis produced 148 cases of tinea capitis. Three dermatophytic agents represented 95% of all cases, with a significant predominance of T. mentagrophytes with 50%. Candidosis occurred in 28.4%. C. albicans, and the C. parapsilosis complex, were responsible for 80% of the cases. The other species identified were C. tropicalis (n = 41, 11.0%), C. glabrata (n = 10, 2.7%), C. guilliermondii (n = 6, 1.6%), C. krusei (n = 4, 1.1%). Pityriasis versicolor occurred in 22.4% of the cases studied, and less frequently were present onychomycosis produced by a non dermatophytic mold: Fusarium oxysporum (n = 34, 65.4%), Aspergillus terreus (n=16, 30.8%) and Scytalidium dimidiatum (n=2; 3.8%). Rare cases of Trichosporon onychomycosis (0.5%) and one case of black tinea were also found. Health education in the population is recommended to promote measures to prevent transmission of these fungi and prevent the spread of this silent public health problem.

  6. [Use of insoles made of antimicrobial materials as prophylactic means in foot mycoses].

    PubMed

    Sedov, A V; Vazhbin, L B; Odtarzhevskaia, N D; Astaf'eva, I P; Poliakova, L A; Karpov, V V; Ashurova, E I; Lazareva, N M; Mikhaĭlov, O R

    1994-01-01

    Stationary dermatologic examination covered 32 sufferers from epidermophytosis of soles, who used 3 types of antimicrobial insoles chosen through laboratory investigations. Clinical trials proved that antimicrobial insoles, if applied during 2 weeks, result in considerably decreased occurrence of causal fungus in the patients' surface skin scarring. The results proved fungicidal and bactericidal activity of insoles including furagin, nitrofurilacroleine, polyhexamethylene guanidine, so such insoles could be recommended as prophylactic measure for mycoses of soles.

  7. [The incidence, etiology and clinical significance of visceral mycoses in patients with AIDS].

    PubMed

    Manfredi, R; Nanetti, A; Mazzoni, A; Mastroianni, A; Chiodo, F

    1993-01-01

    The incidence, aetiology and clinical significance of visceral mycoses in HIV-infected subjects were evaluated by a retrospective survey of the clinical and microbiological records of 237 consecutive AIDS patients followed-up since 1984. Seventy-four patients out of 237 (31.2%) (56 males, 18 females; 55 IV drug abusers, 7 heterosexuals, 6 homobisexuals, 3 blood recipients and 3 children with congenitally-acquired HIV infection) presented 77 different episodes of visceral fungal infection as a whole, represented by candidiasis in 56 cases (oesophageal 45, pulmonary 5, sepsis 2, eye involvement 2, endocarditis and invasive oropharyngeal infection in the remaining 2 patients), cryptococcosis in 17 cases (meningoencephalitis in all subjects, with disseminated infection in 11 of them), and aspergillosis in 4 cases (pulmonary 2, cerebral and cranio-facial in the remaining 2 patients). In 57 out of 74 patients (77%), visceral mycoses were diagnostic or concurrent with the diagnosis of AIDS. Fungal diseases, as a whole, showed a significantly higher incidence (p < 0.03) among drug abusers, whereas homobisexual men presented a significantly lower frequency (p < 0.001, chi-square test) than AIDS patients with other risk factors for HIV infection. The onset of cryptococcosis was significantly associated with the male sex (p < 0.005, Fisher exact test). All subjects suffering from a visceral mycosis were severely immunosuppressed, with a higher rate of neutropenia in patients developing Candida and Aspergillus spp. infection (23 out of 56 patients with visceral candidiasis and 3 out of 4 cases of aspergillosis had an absolute neutrophil count lower than 1500 cells/mm3), while a severe reduction in CD4+ lymphocyte count was more evident among patients with cryptococcosis (13 out of 17 patients had a CD4+ cell count lower than 50/mm3). After remission of the primary episode of fungal infection (obtained in 80.5% of cases), the incidence of relapse observed in a long follow

  8. Antifungal activity of Brazilian medicinal plants involved in popular treatment of mycoses.

    PubMed

    Cruz, M C S; Santos, P O; Barbosa, A M; de Mélo, D L F M; Alviano, C S; Antoniolli, A R; Alviano, D S; Trindade, R C

    2007-05-04

    A survey of medicinal plants used to treat common mycoses was done in the Curituba district, Sergipe State, Brazil. One hundred inhabitants were interviewed by health agents and traditional healers. Four different plants were the most cited (more than 50% of the citations): Ziziphus joazeiro, Caesalpinia pyramidalis, Bumelia sartorum and Hymenea courbaril. The aqueous extracts obtained following traditional methods and using different parts of these plants, were submitted to drop agar diffusion tests for primary antimicrobial screening. Only the water infusion extract of Ziziphus joazeiro and Caesalpinea pyramidalis presented a significant antifungal activity against Trichophyton rubrum, Candida guilliermondii, Candida albicans, Cryptococcus neoformans and Fonsecaea pedrosoi, when compared to the antifungal agent amphotericin B. The minimal inhibitory concentration (MIC) of the bioactive extracts was evaluated by the microdilution method. Best activity with a MIC of 6.5 microg/ml for both extracts was observed against Trichophyton rubrum and Candida guilliermondii. Ziziphus joazeiro and Caesalpinea pyramidalis extracts presented also low acute toxicity in murine models. The present study validates the folk use of these plant extracts and indicates that they can be effective potential candidates for the development of new strategies to treat fungal infections.

  9. Fungal diseases of amphibians: an overview.

    PubMed

    Paré, Jean A

    2003-05-01

    Clinicians should be familiar with the most common fungal diseases of amphibians. Because lesions in mycotic diseases are nonspecific, a diagnosis cannot be established solely on the basis of clinical presentation. Bacterial, mycobacterial, chlamydial, and parasitic infections, and toxic or environmental conditions may mimic mycotic disease to various extents. Furthermore, mycoses may be masked by overwhelming secondary bacterial infection and therefore remain undiagnosed. Skin scrapings, impression smears, biopsies, and fungal culture are all useful tools in confirming or dismissing a diagnosis of mycosis. Whenever possible, an effort should be made to forward samples and biopsies for culture to appropriate laboratories. Providing the laboratory with a tentative etiologic diagnosis may allow for specific selection of more specific agars and culture conditions and maximize the chances of recovering the fungus from lesions. Identification to species level should also be encouraged, if progress is to be made in the understanding of mycoses in amphibians. The morphology of an isolate should be consistent with the microscopic features of the fungus in histological sections of affected tissues, if it is to be firmly incriminated as the cause of disease. A complete necropsy should be conducted on animals that die or are found dead, and, ideally, isolates from confirmed cases of fungal infection should be deposited in scientific collections, so that they are available for later studies. In addendum, readers should be aware that there is recent evidence to suggest that at least some published cases of amphibian basidiobolomycosis were in fact cases of chytridiomycosis [38], and therefore the validity of basidiobolomycosis as a disease entity in amphibians may be revisited in the years to come.

  10. Incidence of skin diseases diagnosed in a public institution: comparison between 2003 and 2014.

    PubMed

    Miguel, Livia Maria Zanardi; Jorge, Marilia Formentini Scotton; Rocha, Bruna; Miot, Hélio Amante

    2017-01-01

    Epidemiology of diseases is influenced by population socio-demographic circumstances. Therefore it can be modified along the time. There are no studies exploring epidemiological transition in dermatology. This study investigated the incidence of dermatoses in new patients from a Brazilian country town public service in 2003 and 2014. There was a significant increase in the incidence of sexually transmitted diseases, leprosy, melasma, pruritus and hidradenitis suppurativa. However, a prominent reduction in scheduling of appointments for surgeries of benign lesions, drug reactions, urticaria and superficial mycoses was detected. The identification of epidemiological trends guides the dimensioning of health system and professional qualification policies.

  11. Linear Epitopes of Paracoccidioides brasiliensis and Other Fungal Agents of Human Systemic Mycoses As Vaccine Candidates

    PubMed Central

    Travassos, Luiz R.; Taborda, Carlos P.

    2017-01-01

    Dimorphic fungi are agents of systemic mycoses associated with significant morbidity and frequent lethality in the Americas. Among the pathogenic species are Paracoccidioides brasiliensis and Paracoccidioides lutzii, which predominate in South America; Histoplasma capsulatum, Coccidioides posadasii, and Coccidioides immitis, and the Sporothrix spp. complex are other important pathogens. Associated with dimorphic fungi other important infections are caused by yeast such as Candida spp. and Cryptococcus spp. or mold such as Aspergillus spp., which are also fungal agents of deadly infections. Nowadays, the actual tendency of therapy is the development of a pan-fungal vaccine. This is, however, not easy because of the complexity of eukaryotic cells and the particularities of different species and isolates. Albeit there are several experimental vaccines being studied, we will focus mainly on peptide vaccines or epitopes of T-cell receptors inducing protective fungal responses. These peptides can be carried by antibody inducing β-(1,3)-glucan oligo or polysaccharides, or be mixed with them for administration. The present review discusses the efficacy of linear peptide epitopes in the context of antifungal immunization and vaccine proposition. PMID:28344577

  12. Une spondylodiscite tuberculeuse chez une transplantée rénale compliquée d’une mycose systémique

    PubMed Central

    Haddiya, Intissar; El Housni, Siham; El Harraqui, Ryme; Rhou, Hakima; Benamar, Loubna; Eziatouni, Fatima; Ouzeddoun, Naima; Bayahia, Rabia

    2014-01-01

    En transplantation, les complications infectieuses sont fréquentes et de diagnostic souvent délicat. Elles peuvent coexister chez le transplanté rénal rendant leur diagnostic encore plus difficile. Le but de ce cas clinique est de discuter les difficultés diagnostiques et de surveillance de deux types de pathologies assez fréquentes chez le transplanté rénal, qui sont la tuberculose et la mycose, à travers l’observation clinique d’une patiente de 24 ans transplantée rénale qui présente une spondylodiscite tuberculeuse et qui développe secondairement une septicémie à Candida non albicans à point de départ urinaire dont le seul point d’appel est la fièvre post opératoire. PMID:25667684

  13. Prevalence, Etiology, and Risk Factors of Tinea Pedis and Tinea Unguium in Tunisia.

    PubMed

    Toukabri, Nourchène; Dhieb, Cyrine; El Euch, Dalenda; Rouissi, Mustapha; Mokni, Mourad; Sadfi-Zouaoui, Najla

    2017-01-01

    Foot mycoses are a frequent disease that represents a public health problem worldwide. This study aims to evaluate the epidemiology of foot mycoses among Tunisian patients, in order to determine the fungal etiological agents and to identify possible risk factors. A prospective study of three hundred and ninety-two patients was undertaken during one year (2013-2014). All subjects were asked to collect demographic data related to the risk factors of foot mycoses. A complete mycological diagnosis was carried out on all patients. A total of 485 samples were collected; tinea pedis and tinea unguium were confirmed in 88.2% of cases. Dermatophytes were isolated in 70.5% and the most frequent pathogen was Trichophyton rubrum (98.1%), followed by yeasts (17.7%) commonly Candida parapsilosis . Non-dermatophyte molds (NDMs) were observed in 8.02% cases and Fusarium sp. was the frequent genus (29.1%). The main predisposing factors of fungal foot infections were practicing ritual washing (56.6%) and frequentation of communal showers (50.5%). This is a recent survey of foot mycoses in Tunisia. Epidemiological studies can be useful to eradicate these infections and to provide further measures of hygiene and education.

  14. Translational Development and Application of (1→3)-β-d-Glucan for Diagnosis and Therapeutic Monitoring of Invasive Mycoses

    PubMed Central

    McCarthy, Matthew W.; Petraitiene, Ruta; Walsh, Thomas J.

    2017-01-01

    Early diagnosis and prompt initiation of appropriate antimicrobial therapy are crucial steps in the management of patients with invasive fungal infections. However, the diagnosis of invasive mycoses remains a major challenge in clinical practice, because presenting symptoms may be subtle and non-invasive diagnostic assays often lack sensitivity and specificity. Diagnosis is often expressed on a scale of probability (proven, probable and possible) based on a constellation of imaging findings, microbiological tools and histopathology, as there is no stand-alone assay for diagnosis. Recent data suggest that the carbohydrate biomarker (1→3)-β-d-glucan may be useful in both the diagnosis and therapeutic monitoring of invasive fungal infections due to some yeasts, molds, and dimorphic fungi. In this paper, we review recent advances in the use of (1→3)-β-d-glucan to monitor clinical response to antifungal therapy and explore how this assay may be used in the future. PMID:28538702

  15. Prevalence, Etiology, and Risk Factors of Tinea Pedis and Tinea Unguium in Tunisia

    PubMed Central

    Dhieb, Cyrine; El Euch, Dalenda; Rouissi, Mustapha; Mokni, Mourad

    2017-01-01

    Background Foot mycoses are a frequent disease that represents a public health problem worldwide. Objectives This study aims to evaluate the epidemiology of foot mycoses among Tunisian patients, in order to determine the fungal etiological agents and to identify possible risk factors. Patients and Methods A prospective study of three hundred and ninety-two patients was undertaken during one year (2013-2014). All subjects were asked to collect demographic data related to the risk factors of foot mycoses. A complete mycological diagnosis was carried out on all patients. Results A total of 485 samples were collected; tinea pedis and tinea unguium were confirmed in 88.2% of cases. Dermatophytes were isolated in 70.5% and the most frequent pathogen was Trichophyton rubrum (98.1%), followed by yeasts (17.7%) commonly Candida parapsilosis. Non-dermatophyte molds (NDMs) were observed in 8.02% cases and Fusarium sp. was the frequent genus (29.1%). The main predisposing factors of fungal foot infections were practicing ritual washing (56.6%) and frequentation of communal showers (50.5%). Conclusion This is a recent survey of foot mycoses in Tunisia. Epidemiological studies can be useful to eradicate these infections and to provide further measures of hygiene and education. PMID:28852411

  16. [Prevalence of fungal infections detected from biopsies and autopsies in the past 11 years at the University Hospital Joan XXIII in Tarragona, Spain].

    PubMed

    García-Fontgivell, Joan Francesc; Mayayo Artal, Emilio

    2006-12-01

    Infectious diseases caused by fungal pathogens have increased in the past 10 years. More than 300 pathogenic fungal species have been incriminated as the etiologic agents. We carried out a retrospective study (1994-2004) to evaluate the prevalence of mycoses at the University Hospital Joan XXIII (330 beds). This report found 0.24% of the studied cases (78,310 biopsies and 753 autopsies) were diagnosed as fungal infections (0.21% of the total studied biopsy and 4.25% of the whole autopsies). Skin and mucose were involved in 66% of cases, followed by other less affected anatomical areas. 61% of studied cases were caused by Candida spp (the most frequent in our environment), followed by Aspergillus spp (10%) and the Zygomycetes (5%). The most important underlying illness was obstructive chronic pulmonary disease followed by diabetes and AIDS. The incidence of mycoses increased with the patient's age, especially those patients in their 80s. Antifungal management improved the clinical outcome of the patient but predisposing factors are crucial for diagnosis. Systemic mycoses have poor prognosis with 91% of fatal outcome. Thus, it is important to perform a rapid diagnosis of the fungal infections a diagnostic area in which pathology could play a major role.

  17. Tinea capitis: a retrospective epidemiological comparative study.

    PubMed

    Chokoeva, A A; Zisova, L; Sotiriou, E; Miteva-Katrandzhieva, T

    2017-03-01

    Currently, a wide spectrum of retrospective studies regarding the incidence of TC among children and adults are available in the world literature, but none of them are comparative, aiming to distinguish etiological diversity depending on the different geographic areas. This study aimed to investigate the epidemiology of TC in Plovdiv, Bulgaria and Thessaloniki, and Greece, and to compare the results and predominant etiological agents using retrospective comparative analysis for an 11-year time period. The subjects included were selected from archives of the Mycological Laboratory of the University Dermatologic Clinic, University Hospital "St. George" Plovdiv, Bulgaria, and the Mycological Laboratory of the First Dermatology Department of Aristotle University Thessaloniki, Greece, by retrospective analysis of data from an 11-year time period (2004-2014). A total count of 374 children aged 0-18, with confirmed diagnosis of TC via direct mycological examination and culture were included (128 children from Plovdiv, Bulgaria, and 246 children from Thessaloniki, Greece). Samples were plated on Sabouraud agar, followed by species identification of the isolated colonies. Our results demonstrate that the incidence of TC in the region of Bulgaria and Thessaloniki for the investigated period was lower than for the previously reported period. In Plovdiv, Bulgaria, it was 1.20 ± 0.09 % (n = 172 from a total count of 14,278 cases of mycoses), as the disease accounts for 23.10 ± 1.79 % of all mycological infections among the pediatric population and 0.36 ± 0.05 % (n = 49 from a total count of 13,724) among the adults patients in Plovdiv, Bulgaria. The incidence of the disease during the period 2004-2014 in Thessaloniki was 2.49 ± 0.15 % (n = 253 cases of TC from a total count of 10,168 mycoses), as it accounts for approximately 27.06 ± 1.47 % of mycological infections among the pediatric population in Thessaloniki, Greece, and 0.08 ± 0.03

  18. Food safety in scavenger conservation: Diet-associated exposure to livestock pharmaceuticals and opportunist mycoses in threatened Cinereous and Egyptian vultures.

    PubMed

    Blanco, Guillermo; Junza, Alexandra; Barrón, Dolores

    2017-01-01

    Pharmaceuticals from veterinary treatments may enter terrestrial food webs when medicated livestock are available to wildlife in supplementary feeding stations aimed at the conservation of endangered scavengers. Here, we hypothesized that the exposure risk to livestock fluoroquinolones, as indicators of pharmaceutical burden in food, is related to the variable reliance of scavengers on domestic versus wild animal carcasses. Since the misuse of broad-spectrum antibiotics is a major predisposing factor for opportunistic mycoses, we evaluated disease signs potentially associated with diet-dependent drug exposure in nestlings of two threatened vultures. A greater occurrence (100%, n=14) and concentration of fluoroquinolones (mean±SD=73.0±27.5µgL -1 , range=33.2-132.7), mostly enrofloxacin, were found in Cinereous vultures, Aegypius monachus, due to their greater dependence on livestock carcasses than Egyptian vultures, Neophron percnopterus (fluoroquinolones occurrence: 44%, n=16, concentration: 37.9±16.6µgL -1 , range=11.5-55.9), which rely much more on carcasses of wild animals (42% of remains vs. 23% in the cinereous vulture). The chaotic, chronic and pulsed ingestion of these drugs throughout nestling development is proposed as one of the most plausible explanations for the high occurrence and intensity of oral Candida-like lesions in nestling vultures. The high occurrence of fluoroquinolone residues and disease hindered the probing of a cause-effect relationship between both factors in individual vultures. This relationship could be evaluated through a population-based approach by sampling vultures not exposed to these drugs. The high dependence of vultures on domestic animals today compared to past decades and the growing intensification of livestock farming, imply an expected increase in the impact of pharmaceuticals on scavenger populations. This requires further evaluation due to potential consequences in biodiversity conservation and environmental health

  19. Clinical use of fungal PCR from deep tissue samples in the diagnosis of invasive fungal diseases: a retrospective observational study.

    PubMed

    Ala-Houhala, M; Koukila-Kähkölä, P; Antikainen, J; Valve, J; Kirveskari, J; Anttila, V-J

    2018-03-01

    To assess the clinical use of panfungal PCR for diagnosis of invasive fungal diseases (IFDs). We focused on the deep tissue samples. We first described the design of panfungal PCR, which is in clinical use at Helsinki University Hospital. Next we retrospectively evaluated the results of 307 fungal PCR tests performed from 2013 to 2015. Samples were taken from normally sterile tissues and fluids. The patient population was nonselected. We classified the likelihood of IFD according to the criteria of the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG), comparing the fungal PCR results to the likelihood of IFD along with culture and microscopy results. There were 48 positive (16%) and 259 negative (84%) PCR results. The sensitivity and specificity of PCR for diagnosing IFDs were 60.5% and 91.7%, respectively, while the negative predictive value and positive predictive value were 93.4% and 54.2%, respectively. The concordance between the PCR and the culture results was 86% and 87% between PCR and microscopy, respectively. Of the 48 patients with positive PCR results, 23 had a proven or probable IFD. Fungal PCR can be useful for diagnosing IFDs in deep tissue samples. It is beneficial to combine fungal PCR with culture and microscopy. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  20. Neglected fungal zoonoses: hidden threats to man and animals.

    PubMed

    Seyedmousavi, S; Guillot, J; Tolooe, A; Verweij, P E; de Hoog, G S

    2015-05-01

    Zoonotic fungi can be naturally transmitted between animals and humans, and in some cases cause significant public health problems. A number of mycoses associated with zoonotic transmission are among the group of the most common fungal diseases, worldwide. It is, however, notable that some fungal diseases with zoonotic potential have lacked adequate attention in international public health efforts, leading to insufficient attention on their preventive strategies. This review aims to highlight some mycoses whose zoonotic potential received less attention, including infections caused by Talaromyces (Penicillium) marneffei, Lacazia loboi, Emmonsia spp., Basidiobolus ranarum, Conidiobolus spp. and Paracoccidioides brasiliensis. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  1. [Fungal diseases of vulva and vagina caused by Candida species].

    PubMed

    Stock, Ingo

    2010-09-01

    Fungal diseases of vulva and vagina attributed to Candida species (vulvovaginal candidosis) are the most frequent mycoses of women. They show acute or chronic courses and different disease patterns which can strongly affect the quality of life of the women who are concerned. In general, the most common cause of acute vulvovaginal candidosis is Candida albicans, followed by C. glabrata. In chronic recurrent vulvovaginal candidosis, C. albicans and C. glabrata are often equally distributed. In several cases, treatment requires an antimycotic therapy which refers to the severity and main form of disease as well as to the aetiological agent. Most vulvovaginal candidoses are accessible to the treatment with local and systemic antimycotic agents. Generally, in Germany azoles such as clotrimazole, fluconazole and itraconazole, the polyens nystatin and Amphotericin B and the hydroxypyridone derivative ciclopirox are available for antimycotic therapy of vulvovaginal candidoses. Significance of non-conventional and adjuvant therapeutic approaches is considered to be generally low.

  2. PULMONARY MYCOTIC INFECTIONS—Allergic and Immunologic Factors

    PubMed Central

    Keeney, Edmund L.

    1954-01-01

    The mechanisms of immunity and allergy, at play in every infectious disease, must be comprehended before the pathogenesis of an infection can be appreciated. Immunity, allergy and serology are concerned with specific antigen-antibody reactions. In immunity the principal concern is with the final disposition of antigen (agglutination, lysis, and phagocytosis). In allergy attention is focused upon tissue damage resulting from antigen-antibody union. In serology interest is devoted to the presence of antibody as evaluated by certain visible in vitro reactions—precipitin, agglutination, opsonization and complement fixation tests. There are two types of allergic reaction—the immediate or anaphylactic type and the delayed type or the allergic disease of infection. Neither kind takes part in the mechanism of immunity. At this time the allergic antibody and the immune antibody must be considered as two different and distinct antibodies. Skin and serologic tests are important diagnostic aids in certain pulmonary mycotic infections—for example, coccidioidomycosis, blastomycosis, histoplasmosis and moniliasis. Clinical expressions of allergy may appear in coccidioidomycosis, histoplasmosis and moniliasis. Pulmonary mycoses are divided into three groups, that is, the endogenous mycoses (actinomycosis, moniliasis, geotrichosis), the endogenous-exogenous mycoses (cryptococcosis, aspergillosis, mucormycosis) and the exogenous mycoses (nocardiosis, coccidioidomycosis, histoplasmosis, North American blastomycosis). The diagnosis and treatment of the important mycotic infections that invade lung tissue are discussed. PMID:13209369

  3. Isavuconazole Treatment of Cryptococcosis and Dimorphic Mycoses.

    PubMed

    Thompson, George R; Rendon, Adrian; Ribeiro Dos Santos, Rodrigo; Queiroz-Telles, Flavio; Ostrosky-Zeichner, Luis; Azie, Nkechi; Maher, Rochelle; Lee, Misun; Kovanda, Laura; Engelhardt, Marc; Vazquez, Jose A; Cornely, Oliver A; Perfect, John R

    2016-08-01

    Invasive fungal diseases (IFD) caused by Cryptococcus and dimorphic fungi are associated with significant morbidity and mortality. Isavuconazole (ISAV) is a novel, broad-spectrum, triazole antifungal agent (IV and by mouth [PO]) developed for the treatment of IFD. It displays potent activity in vitro against these pathogens and in this report we examine outcomes of patients with cryptococcosis or dimorphic fungal infections treated with ISAV. The VITAL study was an open-label nonrandomized phase 3 trial conducted to evaluate the efficacy and safety of ISAV treatment in management of rare IFD. Patients received ISAV 200 mg 3 times daily for 2 days followed by 200 mg once-daily (IV or PO). Proven IFD and overall response at end of treatment (EOT) were determined by an independent, data-review committee. Mortality and safety were also assessed. Thirty-eight patients received ISAV for IFD caused by Cryptococcus spp. (n = 9), Paracoccidioides spp. (n = 10), Coccidioides spp. (n = 9), Histoplasma spp. (n = 7) and Blastomyces spp. (n = 3). The median length of therapy was 180 days (range 2-331 days). At EOT 24/38 (63%) patients exhibited a successful overall response. Furthermore, 8 of 38 (21%) had stable IFD at the end of therapy without progression of disease, and 6 (16%) patients had progressive IFD despite this antifungal therapy. Thirty-three (87%) patients experienced adverse events. ISAV was well tolerated and demonstrated clinical activity against these endemic fungi with a safety profile similar to that observed in larger studies, validating its broad-spectrum in vitro activity and suggesting it may be a valuable alternative to currently available agents. NCT00634049. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America.

  4. Occupational skin diseases in automotive industry workers.

    PubMed

    Yakut, Yunus; Uçmak, Derya; Akkurt, Zeynep Meltem; Akdeniz, Sedat; Palanci, Yilmaz; Sula, Bilal

    2014-03-01

    Studies on occupational skin diseases in workers of the automotive industry are few. To investigate the prevalence of occupational skin diseases in workers of the automotive industry. Between September and December 2011, a total of 405 workers from the automotive repair industry in Diyarbakır were interviewed. They were active workers in the repair industry who had been employed for at least six months. Business owners, sellers of spare parts and accounting officers were not included. The employees were examined at their workplaces and the working conditions were observed. Detailed dermatological examination was performed. The mean age of the 405 workers who participated in the study was 27.7 ± 10.3. The mean working time of employees was 13.3 ± 10.4 years. All of the employees were male. Dermatological diseases were not detected in 144 out of 405 workers (35.6%) and at least one condition was diagnosed in 261 (64.4%). The most frequent diagnosis was callus, hyperkeratosis, clavus (27.7%), followed by nail changes (16.8%) and superficial mycoses (12.1%). Contact dermatitis was seen at a rate of 5.9%. Traumatic lesions such as hyperkeratotic lesions and nail changes were found most frequently. Traumatic lesions were common among individuals who did not use gloves. Most nail changes were localized leuconychia, a finding not reported in the studies on automotive industry workers. In accordance with the literature, irritant contact dermatitis was observed in patients with a history of atopy and who had been working for a long time. Occupational skin diseases comprise an important field in dermatology, deserving much attention. Further studies on occupational dermatology are necessary.

  5. Human Mycoses.

    DTIC Science & Technology

    1977-01-01

    of Action of Miconazole ; Immunity in Dermatomycoses; Biochemical Studies in Microsporum canis Spore Germination and Mechanism of Cycloheximide Resistance; and Biosynthetic Potentialities of Candida Species.

  6. How We Manage Invasive Fungal Disease in Acute Myeloid Leukemia Patients with Glucose 6 Dehydrogenase Deficiency

    PubMed Central

    Sanna, Marco; Caocci, Giovanni; La Nasa, Giorgio

    2017-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) represents a common human enzyme defect, particularly prevalent in the Mediterranean, African e Asian area, where malaria was or is still endemic. Recently, we identified G6PD deficiency as a risk factor for developing invasive fungal disease (IFD) and particularly Candida Sepsis in patients undergoing intensive chemotherapy for acute myeloid leukemia (AML), suggesting that there is an urgent need for strategies to properly manage this kind of patients at high risk of invasive mycoses. Here we propose our algorithm for correct identification, prophylaxis, and treatment of IFD in patients with G6PD deficiency undergoing intensive chemotherapy for AML. PMID:28894556

  7. How We Manage Invasive Fungal Disease in Acute Myeloid Leukemia Patients with Glucose 6 Dehydrogenase Deficiency.

    PubMed

    Sanna, Marco; Caocci, Giovanni; La Nasa, Giorgio

    2017-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) represents a common human enzyme defect, particularly prevalent in the Mediterranean, African e Asian area, where malaria was or is still endemic. Recently, we identified G6PD deficiency as a risk factor for developing invasive fungal disease (IFD) and particularly Candida Sepsis in patients undergoing intensive chemotherapy for acute myeloid leukemia (AML), suggesting that there is an urgent need for strategies to properly manage this kind of patients at high risk of invasive mycoses. Here we propose our algorithm for correct identification, prophylaxis, and treatment of IFD in patients with G6PD deficiency undergoing intensive chemotherapy for AML.

  8. Evaluation of fluorescence in situ hybridisation (FISH) for the detection of fungi directly from blood cultures and cerebrospinal fluid from patients with suspected invasive mycoses.

    PubMed

    Da Silva, Roberto Moreira; Da Silva Neto, João Ricardo; Santos, Carla Silvana; Frickmann, Hagen; Poppert, Sven; Cruz, Kátia Santana; Koshikene, Daniela; De Souza, João Vicente Braga

    2015-01-31

    The aim of this study was to evaluate the diagnostic performance of in-house FISH (fluorescence in situ hybridisation) procedures for the direct identification of invasive fungal infections in blood cultures and cerebrospinal fluid (CSF) samples and to compare these FISH results with those obtained using traditional microbiological techniques and PCR targeting of the ITS1 region of the rRNA gene. In total, 112 CSF samples and 30 positive blood cultures were investigated by microscopic examination, culture, PCR-RFLP and FISH. The sensitivity of FISH for fungal infections in CSF proved to be slightly better than that of conventional microscopy (India ink) under the experimental conditions, detecting 48 (instead of 46) infections in 112 samples. The discriminatory powers of traditional microbiology, PCR-RFLP and FISH for fungal bloodstream infections were equivalent, with the detection of 14 fungal infections in 30 samples. However, the mean times to diagnosis after the detection of microbial growth by automated blood culture systems were 5 hours, 20 hours and 6 days for FISH, PCR-RFLP and traditional microbiology, respectively. The results demonstrate that FISH is a valuable tool for the identification of invasive mycoses that can be implemented in the diagnostic routine of hospital laboratories.

  9. Terbinafine in Combination with Other Antifungal Agents for Treatment of Resistant or Refractory Mycoses: Investigating Optimal Dosing Regimens Using a Physiologically Based Pharmacokinetic Model

    PubMed Central

    Dolton, Michael J.; Perera, Vidya; Pont, Lisa G.

    2014-01-01

    Terbinafine is increasingly used in combination with other antifungal agents to treat resistant or refractory mycoses due to synergistic in vitro antifungal activity; high doses are commonly used, but limited data are available on systemic exposure, and no assessment of pharmacodynamic target attainment has been made. Using a physiologically based pharmacokinetic (PBPK) model for terbinafine, this study aimed to predict total and unbound terbinafine concentrations in plasma with a range of high-dose regimens and also calculate predicted pharmacodynamic parameters for terbinafine. Predicted terbinafine concentrations accumulated significantly during the first 28 days of treatment; the area under the concentration-time curve (AUC)/MIC ratios and AUC for the free, unbound fraction (fAUC)/MIC ratios increased by 54 to 62% on day 7 of treatment and by 80 to 92% on day 28 compared to day 1, depending on the dose regimen. Of the high-dose regimens investigated, 500 mg of terbinafine taken every 12 h provided the highest systemic exposure; on day 7 of treatment, the predicted AUC, maximum concentration (Cmax), and minimum concentration (Cmin) were approximately 4-fold, 1.9-fold, and 4.4-fold higher than with a standard-dose regimen of 250 mg once daily. Close agreement was seen between the concentrations predicted by the PBPK model and the observed concentrations, indicating good predictive performance. This study provides the first report of predicted terbinafine exposure in plasma with a range of high-dose regimens. PMID:24126579

  10. Terbinafine in combination with other antifungal agents for treatment of resistant or refractory mycoses: investigating optimal dosing regimens using a physiologically based pharmacokinetic model.

    PubMed

    Dolton, Michael J; Perera, Vidya; Pont, Lisa G; McLachlan, Andrew J

    2014-01-01

    Terbinafine is increasingly used in combination with other antifungal agents to treat resistant or refractory mycoses due to synergistic in vitro antifungal activity; high doses are commonly used, but limited data are available on systemic exposure, and no assessment of pharmacodynamic target attainment has been made. Using a physiologically based pharmacokinetic (PBPK) model for terbinafine, this study aimed to predict total and unbound terbinafine concentrations in plasma with a range of high-dose regimens and also calculate predicted pharmacodynamic parameters for terbinafine. Predicted terbinafine concentrations accumulated significantly during the first 28 days of treatment; the area under the concentration-time curve (AUC)/MIC ratios and AUC for the free, unbound fraction (fAUC)/MIC ratios increased by 54 to 62% on day 7 of treatment and by 80 to 92% on day 28 compared to day 1, depending on the dose regimen. Of the high-dose regimens investigated, 500 mg of terbinafine taken every 12 h provided the highest systemic exposure; on day 7 of treatment, the predicted AUC, maximum concentration (Cmax), and minimum concentration (Cmin) were approximately 4-fold, 1.9-fold, and 4.4-fold higher than with a standard-dose regimen of 250 mg once daily. Close agreement was seen between the concentrations predicted by the PBPK model and the observed concentrations, indicating good predictive performance. This study provides the first report of predicted terbinafine exposure in plasma with a range of high-dose regimens.

  11. Current problems concerning parasitology and mycology with regard to diseases of the skin and its appendages.

    PubMed

    Błaszkowska, Joanna; Wójcik, Anna

    2012-01-01

    Current issues concerning Parasitology and Mycology with regard to diseases of the skin and its appendages are presented. Aspects of diagnostics, clinical picture and therapy of skin and nail mycoses, as well as difficulties in the diagnosis and treatment of both native parasitoses (toxoplasmosis) and imported human tropical parasitoses (malaria, filariosis) have been emphasised. The clinical importance of environmental mould fungi in nosocomial infections and fungal meningitis, as well as selected properties of fungi isolated from patients with head and neck neoplasms treated by radiotherapy are discussed. Other mycological topics include the characteristics of newly-synthesized thiosemicarbazides and thiadiazoles as potential drugs against toxoplasmosis and their biological activity against Toxoplasma gondii tachyzoites, selected molecular mechanisms of resistance to azoles, Candida albicans strains and a new tool (barcoding DNA) for describing the biodiversity of potential allergenic molds. The importance of environmental factors in pathogenesis of mycoses and parasitoses is noted. The characteristics of pathogenic fungi isolated from natural ponds in Bialystok and potentially pathogenic yeast-like fungi isolated from children's recreation areas in Lodz are presented. The ongoing problem of anthropozoonoses is considered, as are the roles of stray cats and dogs in contaminating soil with the developing forms of intestinal parasites. The characteristics of the human microbiome, including population composition, activity and their importance in normal human physiology, are presented, as are the major goals of the Human Microbiome Project initiated by National Institutes of Health (NIH).

  12. Host Control of Fungal Infections: Lessons from Basic Studies and Human Cohorts.

    PubMed

    Lionakis, Michail S; Levitz, Stuart M

    2018-04-26

    In the last few decades, the AIDS pandemic and the significant advances in the medical management of individuals with neoplastic and inflammatory conditions have resulted in a dramatic increase in the population of immunosuppressed patients with opportunistic, life-threatening fungal infections. The parallel development of clinically relevant mouse models of fungal disease and the discovery and characterization of several inborn errors of immune-related genes that underlie inherited human susceptibility to opportunistic mycoses have significantly expanded our understanding of the innate and adaptive immune mechanisms that protect against ubiquitous fungal exposures. This review synthesizes immunological knowledge derived from basic mouse studies and from human cohorts and provides an overview of mammalian antifungal host defenses that show promise for informing therapeutic and vaccination strategies for vulnerable patients.

  13. Mycotic Infections Acquired outside Areas of Known Endemicity, United States.

    PubMed

    Benedict, Kaitlin; Thompson, George R; Deresinski, Stan; Chiller, Tom

    2015-11-01

    In the United States, endemic mycoses--blastomycosis, coccidioidomycosis, and histoplasmosis--pose considerable clinical and public health challenges. Although the causative fungi typically exist within broadly defined geographic areas or ecologic niches, some evidence suggests that cases have occurred in humans and animals not exposed to these areas. We describe cases acquired outside regions of traditionally defined endemicity. These patients often have severe disease, but diagnosis may be delayed because of a low index of suspicion for mycotic disease, and many more cases probably go entirely undetected. Increased awareness of these diseases, with a specific focus on their potential occurrence in unusual areas, is needed. Continued interdisciplinary efforts to reevaluate and better describe areas of true endemicity are warranted, along with a more nuanced view of the notion of endemicity. The term "nonendemic" should be used with care; mycoses in such regions might more accurately be considered "not known to be endemic."

  14. Looking for fungi in all the right places: screening for cryptococcal disease and other AIDS-related mycoses among patients with advanced HIV disease.

    PubMed

    Greene, Greg; Sriruttan, Charlotte; Le, Thuy; Chiller, Tom; Govender, Nelesh P

    2017-03-01

    As HIV treatment programmes scale up to meet the UNAIDS 90-90-90 goals, care must be taken to start antiretroviral treatment safely in patients with advanced disease (CD4 counts <200 cells/μl) who are simultaneously at risk for opportunistic infections and immune reconstitution inflammatory syndrome. Invasive fungal diseases pose a great threat at this critical time point, though the development of inexpensive and highly accurate rapid diagnostic tests has changed the approach HIV programmes are taking to reduce the high mortality associated with these opportunistic infections. This article summarizes recent advances and findings in fungal opportunistic infection diagnostics with a focus on screening to prevent cryptococcal meningitis. Cryptococcal antigen (CrAg) screening using a lateral flow assay platform is cost-effective and feasible to implement as either a laboratory reflex or point-of-care test. Recent CrAg screening pilots have elucidated the varying prevalence of cryptococcal antigenemia across geographic regions, which may aid programme planning. Evidence from recently completed clinical trials provides a strong motivation for the use of CrAg titer to refine treatment options for patients with subclinical cryptococcal disease. Although several operational barriers to programme effectiveness still need to be addressed, the utility of CrAg screening using inexpensive and accurate antigen assays has been demonstrated in real-world HIV programmes, paving the way for development and testing of other fungal opportunistic infection screening strategies and for an integrated advanced HIV disease testing package to reduce AIDS mortality and ensure safe antiretroviral treatment initiation.

  15. Aspergillus and aspergilloses in wild and domestic animals: a global health concern with parallels to human disease.

    PubMed

    Seyedmousavi, Seyedmojtaba; Guillot, Jacques; Arné, Pascal; de Hoog, G Sybren; Mouton, Johan W; Melchers, Willem J G; Verweij, Paul E

    2015-11-01

    The importance of aspergillosis in humans and various animal species has increased over the last decades. Aspergillus species are found worldwide in humans and in almost all domestic animals and birds as well as in many wild species, causing a wide range of diseases from localized infections to fatal disseminated diseases, as well as allergic responses to inhaled conidia. Some prevalent forms of animal aspergillosis are invasive fatal infections in sea fan corals, stonebrood mummification in honey bees, pulmonary and air sac infection in birds, mycotic abortion and mammary gland infections in cattle, guttural pouch mycoses in horses, sinonasal infections in dogs and cats, and invasive pulmonary and cerebral infections in marine mammals and nonhuman primates. This article represents a comprehensive overview of the most common infections reported by Aspergillus species and the corresponding diseases in various types of animals. © The Author 2015. Published by Oxford University Press on behalf of The International Society for Human and Animal Mycology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  16. Enhanced activity of antifungal drugs using natural phenolics against yeast strains of Candida and Cryptococcus

    USDA-ARS?s Scientific Manuscript database

    Candidiasis and cryptococcosis are diseases of widening global incidence as a result of increasing immunosuppressive disorders, such as AIDS. An enduring problem for treatment of these mycoses is recurrent development of resistance to introduced antifungal drugs. We examined the potential for enhan...

  17. Validation of genetic markers associated with chalkbrood resistance

    USDA-ARS?s Scientific Manuscript database

    Chalkbrood is one of the major fungal diseases of honey bee brood. Systemic mycoses caused by the fungus, Ascosphaera apis, may significantly reduce brood population, and consequently, colony strength and productivity. Developing genetic marker(s) associated with the enhanced brood survival will be ...

  18. Impact of the revised (2008) EORTC/MSG definitions for invasive fungal disease on the rates of diagnosis of invasive aspergillosis.

    PubMed

    Tsitsikas, Dimitris A; Morin, Amelie; Araf, Shamzah; Murtagh, Bernadine; Johnson, Gemma; Vinnicombe, Sarah; Ellis, Stephen; Suaris, Tamara; Wilks, Mark; Doffman, Sarah; Agrawal, Samir G

    2012-07-01

    Diagnosis of invasive aspergillosis (IA) remains a challenge as the clinical manifestations are not specific, and a histological diagnosis is often unfeasible. The 2002 European Organization for Research and Treatment of Cancer (EORTC) and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (MSG) criteria for classification of cases into possible, probable or proven were revised in 2008. Our objective was to analyze the impact of these revisions on the diagnosis of IA. A retrospective analysis of 589 high risk patient-episodes revealed that 125 of 155 'possible' (81%) and 12 of 16 'probable' (75%) cases of IA should be changed to 'non-classifiable' when the new criteria were applied. We concluded, as expected, that the 2008 EORTC/MSG revised definitions reduced the number of cases classified as 'possible' IA, but additionally, there has been a dramatic reduction in 'probable' cases. These changes have significant implications on the interpretation of clinical trial data based on EORTC/MSG classifications.

  19. Environmental isolates of fungi from aquarium pools housing killer whales (Orcinus orca).

    PubMed

    Kohata, Erina; Kano, Rui; Akune, Yuichiro; Ohno, Yoshito; Soichi, Makoto; Yanai, Tokuma; Hasegawa, Atsuhiko; Kamata, Hiroshi

    2013-12-01

    Systemic mycoses in killer whales (Orcinus orca) are rare diseases, but have been reported. Two killer whales died by fungal infections at the Port of Nagoya Public Aquarium in Japan. In this study, the fungal flora of the pool environment at the aquarium was characterized. Alternaria spp., Aspergillus spp. (A. fumigatus, A. niger, A. versicolor), Fusarium spp. and Penicillium spp. were isolated from the air and the pool surroundings. The other isolates were identified as fungal species non-pathogenic for mammals. However, the species of fungi isolated from the environmental samples in this study were not the same as those isolated from the cases of disease in killer whales previously reported.

  20. The Burden of Fungal Diseases in Romania

    PubMed Central

    Moroti-Constantinescu, Valentina Ruxandra

    2018-01-01

    Objective: To estimate for the first time the burden of fungal infections in Romania. Methods: Data derived from the World Health Organization (WHO), National Institute of Statistics, Romanian public health agencies and non-profit health organizations, and published annual reports on local epidemiology were used in the present study. When no data were available, specific at-risk populations were used to calculate frequencies of serious fungal diseases, using previously published epidemiological parameters. All data refer to the year 2016. Results: The estimated number of serious fungal infections in Romanian population was 436,230 in 2016. Recurrent vulvovaginal candidiasis accounted for up to 80% of total cases (more than 350,000 women annually). Concerning HIV-related infections, among 14,349 infected persons, Pneumocystis pneumonia occurred in about 10% of late presenters (30 cases in 2016), while cryptococcal meningitis was rarely diagnosed (less than 20 cases). Annually, the total number of oesophageal candidiasis and oral thrush cases in HIV-positive patients may have been as high as 1229 and 3066, respectively. In immunocompromised and cancer patient populations, the annual incidence of candidaemia was 295, and at least 458 invasive aspergillosis cases and 4 mucormycosis cases occurred yearly. With 4966 critical care beds and approximately 200,000 abdominal surgeries performed, the estimated annual incidence of candidaemia and Candida peritonitis was 689 and 344, respectively. The annual incidence of pulmonary tuberculosis is still high in Romania (12,747 cases). Thus, the prevalence of post-TB chronic pulmonary aspergillosis is estimated to be 8.98/100,000 (1768 cases). The prevalence of chronic obstructive pulmonary disease (COPD) and asthma in adults is 6% and 6.5%, respectively. Therefore, allergic bronchopulmonary aspergillosis prevalence is estimated at 29,387 and severe asthma with fungal sensitisation at 38,731 cases annually. Conclusions: Not being

  1. The Burden of Fungal Diseases in Romania.

    PubMed

    Mareș, Mihai; Moroti-Constantinescu, Valentina Ruxandra; Denning, David W

    2018-03-01

    To estimate for the first time the burden of fungal infections in Romania. Data derived from the World Health Organization (WHO), National Institute of Statistics, Romanian public health agencies and non-profit health organizations, and published annual reports on local epidemiology were used in the present study. When no data were available, specific at-risk populations were used to calculate frequencies of serious fungal diseases, using previously published epidemiological parameters. All data refer to the year 2016. The estimated number of serious fungal infections in Romanian population was 436,230 in 2016. Recurrent vulvovaginal candidiasis accounted for up to 80% of total cases (more than 350,000 women annually). Concerning HIV-related infections, among 14,349 infected persons, Pneumocystis pneumonia occurred in about 10% of late presenters (30 cases in 2016), while cryptococcal meningitis was rarely diagnosed (less than 20 cases). Annually, the total number of oesophageal candidiasis and oral thrush cases in HIV-positive patients may have been as high as 1229 and 3066, respectively. In immunocompromised and cancer patient populations, the annual incidence of candidaemia was 295, and at least 458 invasive aspergillosis cases and 4 mucormycosis cases occurred yearly. With 4966 critical care beds and approximately 200,000 abdominal surgeries performed, the estimated annual incidence of candidaemia and Candida peritonitis was 689 and 344, respectively. The annual incidence of pulmonary tuberculosis is still high in Romania (12,747 cases). Thus, the prevalence of post-TB chronic pulmonary aspergillosis is estimated to be 8.98/100,000 (1768 cases). The prevalence of chronic obstructive pulmonary disease (COPD) and asthma in adults is 6% and 6.5%, respectively. Therefore, allergic bronchopulmonary aspergillosis prevalence is estimated at 29,387 and severe asthma with fungal sensitisation at 38,731 cases annually. Not being on the list of reportable diseases, the

  2. Time-Kill Kinetics and In Vitro Antifungal Susceptibility of Non-fumigatus Aspergillus Species Isolated from Patients with Ocular Mycoses.

    PubMed

    Öz, Yasemin; Özdemir, Havva Gül; Gökbolat, Egemen; Kiraz, Nuri; Ilkit, Macit; Seyedmousavi, Seyedmojtaba

    2016-04-01

    Aspergillus species can cause ocular morbidity and blindness, and thus, appropriate antifungal therapy is needed. We investigated the in vitro activity of itraconazole, voriconazole, posaconazole, caspofungin, anidulafungin, and amphotericin B against 14 Aspergillus isolates obtained from patients with ocular mycoses, using the CLSI reference broth microdilution methodology. In addition, time-kill assays were performed, exposing each isolate separately to 1-, 4-, and 16-fold concentrations above the minimum inhibitory concentration (MIC) of each antifungal agent. A sigmoid maximum-effect (E max) model was used to fit the time-kill curve data. The drug effect was further evaluated by measuring an increase/decrease in the killing rate of the tested isolates. The MICs of amphotericin B, itraconazole, voriconazole, and posaconazole were 0.5-1.0, 1.0, 0.5-1.0, and 0.25 µg/ml for A. brasiliensis, A. niger, and A. tubingensis isolates, respectively, and 2.0-4.0, 0.5, 1.0 for A. flavus, and 0.12-0.25 µg/ml for A. nomius isolates, respectively. A. calidoustus had the highest MIC range for the azoles (4.0-16.0 µg/ml) among all isolates tested. The minimum effective concentrations of caspofungin and anidulafungin were ≤0.03-0.5 µg/ml and ≤0.03 µg/ml for all isolates, respectively. Posaconazole demonstrated maximal killing rates (E(max) = 0.63 h(-1), r(2) = 0.71) against 14 ocular Aspergillus isolates, followed by amphotericin B (E(max) = 0.39 h(-1), r(2) = 0.87), voriconazole (E(max) = 0.35 h(-1), r(2) = 0.098), and itraconazole (E(max) = 0.01 h(-1), r(2) = 0.98). Overall, the antifungal susceptibility of the non-fumigatus Aspergillus isolates tested was species and antifungal agent dependent. Analysis of the kinetic growth assays, along with consideration of the killing rates, revealed that posaconazole was the most effective antifungal against all of the isolates.

  3. Update on Multistate Outbreak of Fungal Infections Associated with Contaminated Methylprednisolone Injections, 2012-2014.

    PubMed

    McCotter, Orion Z; Smith, Rachel M; Westercamp, Mathew; Kerkering, Thomas M; Malani, Anurag N; Latham, Robert; Peglow, Sheree L; Mody, Rajal K; Pappas, Peter G; Chiller, Tom M

    2015-10-30

    During September 2012, CDC, in collaboration with state and local health departments and the Food and Drug Administration (FDA), investigated a multistate outbreak of fungal meningitis and other infections caused by injections of contaminated methylprednisolone acetate solution (MPA). After this unprecedented outbreak, scientists in the CDC Mycotic Diseases Branch, along with infectious diseases specialists who cared for patients from the outbreak, clinical experts, and public health officials from affected states, have continued to monitor the recovery of affected patients. A long-term follow-up study involving these patients was initiated and is being conducted by the Mycoses Study Group Education and Research Consortium (MSGERC). This update summarizes subsequent information about the current state of the outbreak.

  4. A case of disseminated mycosis in a German shepherd dog due to Penicillium purpurogenum.

    PubMed

    Zanatta, R; Miniscalco, B; Guarro, J; Gené, J; Capucchio, M T; Gallo, M G; Mikulicich, B; Peano, A

    2006-02-01

    The genus Penicillium is among the most common contaminant fungi in the environment. Around 15 species are known to cause opportunistic human mycoses, in immunocompromised patients. Until now, Penicillium purpurogenum has been involved in only three human cases of pulmonary diseases but no infections in animals have been reported. Most disseminated mycoses in dogs are caused by members of the genus Aspergillus, with the predisposing factors in these cases being difficult to define. The case reported here involved a 4-year-old female German shepherd dog (GSD) with forelimb instability and back pain. Clinical examination showed hyperthermia, generalized lymphadenomegaly and kyphosis. Radiological findings of the spine revealed areas of discospondilitis involving thoracic and lumbar vertebrae. Microscopic observations of fine needle aspiration biopsies (FNAB) of lymph-nodes showed regular, septate, branching fungal hyphae. Itraconazole therapy was started but the subject died six days later. Disseminated necrotic areas were detected in enlarged lymph-nodes, liver and spleen. Vertebral granulomas within lytic areas in T10-T11 and L2-L3, were observed. Cultures inoculated with samples obtained from lymph-node FNAB and bioptic material from necropsied organs revealed the presence of pure cultures of Penicillium, subsequently identified as P. purpurogenum. Apart from female GSD's suspected predisposition to disseminated mycoses described in literature, no other predisposing factors were ascertained in this case.

  5. Fungal infection in Latin American countries.

    PubMed

    Rios-Fabra, A; Moreno, A R; Istúriz, R E

    1994-03-01

    Fungal infections remain a frequent health problem in Latin American countries. Although these diseases exhibit an extraordinary heterogeneity, they have certain features in common. Most patients belong to low socioeconomic groups and live in rural areas. This article presents a general view of the most prevalent subcutaneous mycoses, with emphasis on epidemiology, clinical manifestations, laboratory diagnosis, and treatment options in the developing countries of Latin America.

  6. Estimation of the Burden of Serious Human Fungal Infections in Malaysia

    PubMed Central

    Velayuthan, Rukumani Devi; Samudi, Chandramathi; Lakhbeer Singh, Harvinder Kaur; Ng, Kee Peng

    2018-01-01

    Fungal infections (mycoses) are likely to occur more frequently as ever-increasingly sophisticated healthcare systems create greater risk factors. There is a paucity of systematic data on the incidence and prevalence of human fungal infections in Malaysia. We conducted a comprehensive study to estimate the burden of serious fungal infections in Malaysia. Our study showed that recurrent vaginal candidiasis (>4 episodes/year) was the most common of all cases with a diagnosis of candidiasis (n = 501,138). Oesophageal candidiasis (n = 5850) was most predominant among individuals with HIV infection. Candidemia incidence (n = 1533) was estimated in hospitalized individuals, some receiving treatment for cancer (n = 1073), and was detected also in individuals admitted to intensive care units (ICU) (n = 460). In adults with asthma, allergic bronchopulmonary aspergillosis (ABPA) was the second most common respiratory mycoses noticed (n = 30,062) along with severe asthma with fungal sensitization (n = 39,628). Invasive aspergillosis was estimated in 184 cases undergoing anti-cancer treatment and 834 ICU cases. Cryptococcal meningitis was diagnosed in 700 subjects with HIV/AIDS and Pneumocystis jirovecii pneumonitis (PCP) in 1286 subjects with underlying HIV disease. The present study indicates that at least 590,214 of the Malaysian population (1.93%) is affected by a serious fungal infection annually. This problem is serious enough to warrant the further epidemiological studies to estimate the burden of human fungal infections in Malaysia. PMID:29562712

  7. Tinea versicolor, tinea nigra, white piedra, and black piedra.

    PubMed

    Bonifaz, Alexandro; Gómez-Daza, Fernando; Paredes, Vanessa; Ponce, Rosa María

    2010-03-04

    Superficial mycoses are fungal infections limited to the stratum corneum and its adnexal structures. The most frequent types are dermatophytoses or tineas. Tinea versicolor involves the skin in the form of hypochromic or hyperchromic plaques, and tinea nigra affects the skin of the palms with dark plaques. White piedra and black piedra are parasitic infections of scalp hairs in the form of concretions caused by fungal growth. Diagnosis of these mycoses is made from mycologic studies, direct examination, stains, and isolation, and identification of the fungi. Treatment includes systemic antifungals, topical antifungals, and keratolytics. Copyright 2010 Elsevier Inc. All rights reserved.

  8. Parasites and fungi as risk factors for human and animal health.

    PubMed

    Góralska, Katarzyna; Błaszkowska, Joanna

    2015-01-01

    Recent literature data suggests that parasitic and fungal diseases, which pose a threat to both human and animal health, remain a clinical, diagnostic and therapeutic problem. Attention is increasingly paid to the role played by natural microbiota in maintaining homeostasis in humans. A particular emphasis is placed on the possibility of manipulating the human microbiota (permanent, transient, pathogenic) and macrobiota (e.g., Trichuris suis) to support the treatment of selected diseases such as Crohn's disease, obesity, diabetes and cancer. Emphasis is placed on important medical species whose infections not only impair health but can also be life threatening, such as Plasmodium falciparum, Echinococcus multilocularis and Baylisascaris procyonis, which expand into areas which have so far been uninhabited. This article also presents the epidemiology, diagnosis and treatment of opportunistic parasitoses imported from the tropics, which spread across large groups of people through human-to-human transmission (Enterobius vermicularis, Sarcoptes scabiei). It also discusses the problem of environmentally-conditioned parasitoses, particularly their etiological factors associated with food contaminated with invasive forms (Trichinella sp., Toxoplasma gondii). The analysis also concerns the presence of developmental forms of geohelminths (Toxocara sp.) and ectoparasites (ticks), which are vectors of serious human diseases (Lyme borreliosis, anaplasmosis, babesiosis), in the environment. Mycological topics contains rare cases of mycoses environmentally conditioned (CNS aspergillosis) and transmissions of these pathogens in a population of hospitalized individuals, as well as seeking new methods used to treat mycoses.

  9. Burden of serious fungal infections in Bangladesh.

    PubMed

    Gugnani, H C; Denning, D W; Rahim, R; Sadat, A; Belal, M; Mahbub, M S

    2017-06-01

    In Bangladesh there are several published papers on superficial mycoses. Deep mycoses are also recognized as an important emerging problem. Here, we estimate the annual incidence and prevalence of serious fungal infections in Bangladesh. Demographic data were obtained from world population reports and the data on TB and HIV extracted from the online publications on tuberculosis in Bangladesh and Asia Pacific research statistical data information resources AIDS Data HUB. All the published papers on fungal infections in Bangladesh were identified through extensive search of literature. We estimated the number of affected people from populations at risk and local epidemiological data. Bangladesh has a population of ∼162.6 million, 31% children and only 6% over the age of 60 years. The pulmonary TB caseload reported in 2014 was 119,520, and we estimate a prevalence of 30,178 people with chronic pulmonary aspergillosis, 80% attributable to TB. An anticipated 90,262 and 119,146 patients have allergic bronchopulmonary aspergillosis or severe asthma with fungal sensitization. Only 8,000 people are estimated to be HIV-infected, of whom 2900 are not on ART with a CD4 count <350 μL, Pneumocystis pneumonia and cryptococcal meningitis being rare. Superficial mycoses are very common with Trichophyton rubrum as the predominant etiological agent (80.6%). Numerous cases of mycotic keratitis have been reported from several parts of Bangladesh. Candida bloodstream infection was estimated based on a 5 per 100,000 rate (8100 cases) and invasive aspergillosis based primarily on leukemia and COPD rates, at 5166 cases. Histoplasmosis was documented in 16 cases mostly with disseminated disease and presumed in 21 with HIV infection. This study constitutes the first attempt to estimate the burden of several types of serious fungal infections in Bangladesh.

  10. The burden of serious fungal diseases in Russia.

    PubMed

    Klimko, N; Kozlova, Y; Khostelidi, S; Shadrivova, O; Borzova, Y; Burygina, E; Vasilieva, N; Denning, D W

    2015-10-01

    The incidence and prevalence of fungal infections in Russia is unknown. We estimated the burden of fungal infections in Russia according to the methodology of the LIFE program (www.LIFE-worldwide.org). The total number of patients with serious and chronic mycoses in Russia in 2011 was three million. Most of these patients (2,607,494) had superficial fungal infections (recurrent vulvovaginal candidiasis, oral and oesophageal candidiasis with HIV infection and tinea capitis). Invasive and chronic fungal infections (invasive candidiasis, invasive and chronic aspergillosis, cryptococcal meningitis, mucormycosis and Pneumocystis pneumonia) affected 69,331 patients. The total number of adults with allergic bronchopulmonary aspergillosis and severe asthma with fungal sensitisation was 406,082. © 2015 Blackwell Verlag GmbH.

  11. Comparison of modified Chicago sky blue stain and potassium hydroxide mount for the diagnosis of dermatomycoses and onychomycoses.

    PubMed

    Liu, Zhong; Sheng, Ping; Yang, Yan-Ping; Li, Wen; Huang, Wen-Ming; Wang, Jie-Di; Fan, Yi-Ming

    2015-05-01

    The diagnostic value of modified Chicago sky blue (CSB) stain and potassium hydroxide (KOH) mount for superficial mycoses was compared using fungal culture as gold standard. The sensitivity and screening time of the CSB stain were superior to the KOH mount. The CBS stain is simple, quick and reliable for diagnosing superficial mycoses. Copyright © 2015. Published by Elsevier B.V.

  12. A monoclonal IgM directed against immunodominant catalase B of cell wall of Aspergillus fumigatus exerts anti-A. fumigatus activities.

    PubMed

    Chaturvedi, Ashok K; Kumar, Rohitashw; Kumar, Awanit; Shukla, Praveen K

    2009-11-01

    Aspergillus fumigatus, a ubiquitous fungus, has been reported to cause human diseases like allergic pulmonary aspergillosis, aspergilloma and invasive infection. Limited spectrum and emergence of resistance has become a serious problem with available antifungals. Therefore, an alternative approach is required for successful treatment of mycoses. In the present study, immunogenic protein profile of A. fumigatus cell wall was generated using two-dimensional-gel electrophoresis and three hybridomas producing monoclonal antibodies (MAbs; IgM) were selected after fusion experiments. Of these three MAbs, MAb-7 exhibited potent in vitro inhibitory activity, which was confirmed by MTT assay, fluorescence-activated cell sorter analysis and immuno-fluorescence studies, and the protein was identified as catalase B using MALDI-TOF-MS.

  13. Statistical methods for studying disease subtype heterogeneity.

    PubMed

    Wang, Molin; Spiegelman, Donna; Kuchiba, Aya; Lochhead, Paul; Kim, Sehee; Chan, Andrew T; Poole, Elizabeth M; Tamimi, Rulla; Tworoger, Shelley S; Giovannucci, Edward; Rosner, Bernard; Ogino, Shuji

    2016-02-28

    A fundamental goal of epidemiologic research is to investigate the relationship between exposures and disease risk. Cases of the disease are often considered a single outcome and assumed to share a common etiology. However, evidence indicates that many human diseases arise and evolve through a range of heterogeneous molecular pathologic processes, influenced by diverse exposures. Pathogenic heterogeneity has been considered in various neoplasms such as colorectal, lung, prostate, and breast cancers, leukemia and lymphoma, and non-neoplastic diseases, including obesity, type II diabetes, glaucoma, stroke, cardiovascular disease, autism, and autoimmune disease. In this article, we discuss analytic options for studying disease subtype heterogeneity, emphasizing methods for evaluating whether the association of a potential risk factor with disease varies by disease subtype. Methods are described for scenarios where disease subtypes are categorical and ordinal and for cohort studies, matched and unmatched case-control studies, and case-case study designs. For illustration, we apply the methods to a molecular pathological epidemiology study of alcohol intake and colon cancer risk by tumor LINE-1 methylation subtypes. User-friendly software to implement the methods is publicly available. Copyright © 2015 John Wiley & Sons, Ltd.

  14. [Animals as a potential source of human fungal infections].

    PubMed

    Dworecka-Kaszak, Bozena

    2008-01-01

    Changing environment is a reason, that many saprotrophic fungi became opportunists and in the end also maybe a pathogenic. Host specific adaptation is not so strong among fungi, so there are many common fungal pathogens for people and for animals. Animals suffering from dermatomycosis are well recognize as source of human superficial mycoses. Breeding of different exotic animals such as parrots, various Reptiles and Amphibians, miniature Rodents and keeping them as a pets in the peoples houses, have become more and more popular in the recent years. This article is shortly presenting which animals maybe a potential source of fungal infections for humans. Looking for the other mycoses as systemic mycoses, especially candidiasis or aspergilosis there are no data, which allow excluding sick animals as a source of infection for human, even if those deep mycoses have endogenic reactivation mechanism. Immunocompromised people are in high-risk group when they take care of animals. Another important source of potentially pathogenic, mostly air-born fungi may be animal use in experimental laboratory work. During the experiments is possible that laboratory workers maybe hurt and these animals and their environment, food and house boxes could be the possible source of microorganisms, pathogenic for humans or other animals. Unusual way to inoculate these potentially pathogens into the skin of laboratory personnel may cause granulomatous, local lesions on their hands.

  15. New data on the use of dimethyl sulfoxide in experimental and clinical dermatology. Survey of the literature (in Russian)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Datskovskii, B.M.; Zaks, A.S.; Mitryukovskii, L.S.

    1973-01-01

    A review of 241 reports published in recent years dealing with various aspects of the effect of dimethylsulphoxide (DMSO) on the skin is presented. Properties of DMSO such as penetrability, transporting capacity, and radioprotective effect are discussed as well as the prospects of the use of the drug in experimental oncology and allergology (in dermatological aspect). Materials on the effect of DMSO on the skin and the results of its use in clinical practice for treatment of sclerodermia, psoriasis, eczema, mycoses, and other diseases are presented. (auth)

  16. Isavuconazole treatment for rare fungal diseases and for invasive aspergillosis in patients with renal impairment: Challenges and lessons of the VITAL trial.

    PubMed

    Perfect, John R; Cornely, Oliver A; Heep, Markus; Ostrosky-Zeichner, Luis; Mullane, Kathleen M; Maher, Rochelle; Croos-Dabrera, Rodney; Lademacher, Christopher; Engelhardt, Marc; Chen, Caroline; Marty, Francisco M

    2018-03-23

    Invasive fungal disease (IFD) confers a substantial risk for morbidity and mortality to immunocompromised patients. Invasive aspergillosis (IA) is the most common IFD caused by moulds but the prevalence of other rare mould diseases, such as mucormycosis, hyalohyphomycosis and phaeohyphomycosis, may be increasing. Treatments are available for IA, but evidence to support efficacy and safety of antifungal agents for rare IFDs, or for IFDs in special patient populations, is limited or lacking. The VITAL trial was conducted to assess the efficacy and safety of isavuconazole for the treatment of patients with IA and renal impairment, or with IFDs caused by rare moulds, yeasts or dimorphic fungi. These patients stand to benefit most from a new treatment option but are unlikely to be included in a randomised, controlled trial. In this article, we review the challenges faced in the design and conduct of the VITAL trial. We also review the findings of VITAL, which included evidence of the efficacy and safety of isavuconazole. Finally, we consider the importance of trials such as VITAL to inform therapeutic decision making for clinicians faced with the challenge of treating patients with rare IFDs and as one paradigm of how to determine efficacy and safety of new drugs for rare and resistant infections without a suitable comparator. © 2018 The Authors. Mycoses Published by Blackwell Verlag GmbH.

  17. Longitudinal Andhra Pradesh Eye Disease Study: rationale, study design and research methodology.

    PubMed

    Khanna, Rohit C; Murthy, Gudlavalleti Vs; Marmamula, Srinivas; Mettla, Asha Latha; Giridhar, Pyda; Banerjee, Seema; Shekhar, Konegari; Chakrabarti, Subhabrata; Gilbert, Clare; Rao, Gullapalli N

    2016-03-01

    The rationale, objectives, study design and procedures for the longitudinal Andhra Pradesh Eye Disease Study are described. A longitudinal cohort study was carried out. Participants include surviving cohort from the rural component of Andhra Pradesh Eye Disease Study. During 1996-2000, Andhra Pradesh Eye Disease Survey was conducted in three rural (n = 7771) and one urban (n = 2522) areas (now called Andhra Pradesh Eye Disease Study 1). In 2009-2010, a feasibility exercise (Andhra Pradesh Eye Disease Study 2) for a longitudinal study (Andhra Pradesh Eye Disease Study 3) was undertaken in the rural clusters only, as urban clusters no longer existed. In Andhra Pradesh Eye Disease Study 3, a detailed interview will be carried out to collect data on sociodemographic factors, ocular and systemic history, risk factors, visual function, knowledge of eye diseases and barriers to accessing services. All participants will also undergo a comprehensive eye examination including photography of lens, optic disc and retina, Optic Coherence Tomography of the posterior segment, anthropometry, blood pressure and frailty measures. Measures include estimates of the incidence of visual impairment and age-related eye disease (lens opacities, glaucoma and age-related macular degeneration) and the progression of eye disease (lens opacities and myopia) and associated risk factors. Of the 7771 respondents examined in rural areas in Andhra Pradesh Eye Disease Study 1, 5447 (70.1%) participants were traced in Andhra Pradesh Eye Disease Study 2. These participants will be re-examined. Andhra Pradesh Eye Disease Study 3 will provide data on the incidence and progression of visual impairment and major eye diseases and their associated risk factors in India. The study will provide further evidence to aid planning eye care services. © 2015 Royal Australian and New Zealand College of Ophthalmologists.

  18. Emerging Fungal Infections in the Pacific Northwest: The Unrecognized Burden and Geographic Range of Cryptococcus gattii and Coccidioides immitis.

    PubMed

    Lockhart, Shawn R; McCotter, Orion Z; Chiller, Tom M

    2016-06-01

    Both Cryptococcus gattii and Coccidioides can cause debilitating diseases if not identified early. It is imperative that clinicians recognize these diseases and begin treatment quickly when necessary. In order to have these two mycoses in their differential diagnosis, clinicians, microbiologists, and public health officials must be aware of the expanding geographic boundary in the case of Coccidioides immitis and the new emergence in the case of C. gattii. Accordingly, there is now mandatory reporting for cases of C. gattii and C. immitis in both Washington and Oregon, and the Centers for Disease Control and Prevention keeps a repository of available isolates. Through the One Health initiative, clinicians, veterinarians, and public health officials are collaborating to better understand the emergence and expanding geographic range of these extremely important fungal diseases.

  19. Screen-detected gallstone disease and autoimmune diseases - A cohort study.

    PubMed

    Shabanzadeh, Daniel Mønsted; Linneberg, Allan; Skaaby, Tea; Sørensen, Lars Tue; Jørgensen, Torben

    2018-06-01

    Gallstone disease is highly prevalent and is associated with systemic inflammation. To determine whether screen-detected gallstones or cholecystectomy are associated with the occurrence of autoimmune and autoinflammatory diseases and the most common subgroups thereof. A cohort study of three randomly selected general population samples from Copenhagen was performed. Participants (n = 5928) were examined in the period 1982-1992, underwent abdominal ultrasound examination to detect gallstone disease, and followed through national registers until December 2014 (median 24.7 years) for occurrence of immunological diseases. Multivariable Cox regression analyses were performed. Gallstone disease was identified in 10% (591/5928) of participants, of whom 6.8% had gallstones and 3.2% had cholecystectomy at baseline. Gallstone disease was associated with incidence of autoimmune diseases (12.9% versus 7.92%; hazard ratio 1.46; 95% confidence interval [CI], [1.11;1.91]), diabetes mellitus type 1 (5.95% versus 3.67%; 1.53; [1.02;2.30]), and autoimmune thyroid disease (3.70% versus 1.59%; 2.06; [1.26;3.38]). Rheumatoid arthritis, autoinflammatory diseases, or any subgroups thereof were not associated. In a large general population sample, screen-detected gallstone disease was associated with the development of autoimmune diseases during long-term follow-up. Future research efforts are needed to further explore common disease mechanisms. Copyright © 2018 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  20. Clinical Performance of Aspergillus PCR for Testing Serum and Plasma: a Study by the European Aspergillus PCR Initiative.

    PubMed

    White, P Lewis; Barnes, Rosemary A; Springer, Jan; Klingspor, Lena; Cuenca-Estrella, Manuel; Morton, C Oliver; Lagrou, Katrien; Bretagne, Stéphane; Melchers, Willem J G; Mengoli, Carlo; Donnelly, J Peter; Heinz, Werner J; Loeffler, Juergen

    2015-09-01

    Aspergillus PCR testing of serum provides technical simplicity but with potentially reduced sensitivity compared to whole-blood testing. With diseases for which screening to exclude disease represents an optimal strategy, sensitivity is paramount. The associated analytical study confirmed that DNA concentrations were greater in plasma than those in serum. The aim of the current investigation was to confirm analytical findings by comparing the performance of Aspergillus PCR testing of plasma and serum in the clinical setting. Standardized Aspergillus PCR was performed on plasma and serum samples concurrently obtained from hematology patients in a multicenter retrospective anonymous case-control study, with cases diagnosed according to European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) consensus definitions (19 proven/probable cases and 42 controls). Clinical performance and clinical utility (time to positivity) were calculated for both kinds of samples. The sensitivity and specificity for Aspergillus PCR when testing serum were 68.4% and 76.2%, respectively, and for plasma, they were 94.7% and 83.3%, respectively. Eighty-five percent of serum and plasma PCR results were concordant. On average, plasma PCR was positive 16.8 days before diagnosis and was the earliest indicator of infection in 13 cases, combined with other biomarkers in five cases. On average, serum PCR was positive 10.8 days before diagnosis and was the earliest indicator of infection in six cases, combined with other biomarkers in three cases. These results confirm the analytical finding that the sensitivity of Aspergillus PCR using plasma is superior to that using serum. PCR positivity occurs earlier when testing plasma and provides sufficient sensitivity for the screening of invasive aspergillosis while maintaining methodological simplicity. Copyright

  1. Coeliac disease in autoimmune liver disease: a cross-sectional study and a systematic review.

    PubMed

    Mirzaagha, Foroozandeh; Azali, Sepideh Hagh; Islami, Farhad; Zamani, Farhad; Khalilipour, Elias; Khatibian, Morteza; Malekzadeh, Reza

    2010-09-01

    Several studies have reported an association between coeliac disease and autoimmune liver disease, but there is little information on the prevalence of coeliac disease in certain autoimmune liver diseases, particularly from non-European, non-American countries. To investigate prevalence of coeliac disease in autoimmune liver disease in Iran and to summarize previous literature. We investigated prevalence of coeliac disease among 100 autoimmune liver disease patients and compared it with the prevalence in healthy individuals. We also performed an extensive search of the English literature in PubMed Database. We found substantially elevated prevalence of coeliac disease in patients with overlap syndrome (10-15%) compared to the general population (0.1-1%). To a lesser extent, the prevalence was high in patients with autoimmune hepatitis (2-4%). In our systematic review, prevalence of coeliac disease in autoimmune hepatitis in the majority of studies was 4% or more; several studies also reported such prevalence in primary biliary cirrhosis. Since coeliac disease is common among patients with autoimmune liver disease, screening autoimmune liver disease patients for coeliac disease is indicated. Although the magnitude of benefit from a gluten-free diet in reversing autoimmune liver disease in patients with coeliac disease is controversial, it may reduce the risk of further complications of coeliac disease. Copyright (c) 2010 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  2. [Macula study in Stargardt's disease].

    PubMed

    Maia, Otacílio de Oliveira; Takahashi, Walter Yukihiko; Arantes, Tiago Eugênio Faria e; Barreto, Raquel Barbosa Paes; Andrade Neto, João Lins de

    2008-01-01

    To evaluate de macular structural damage in Stargardt's disease by optical coherence tomography, correlating with visual acuity and disease duration. Patients with Stargardt's disease were included and submitted to visual acuity (logMAR) measurement and complementary examinations performed were color fundus photographs, fluorescein angiography and optical coherence tomography. All cases were reexamined for diagnostic confirmation and the duration of symptoms was determined. The control group was composed of the same number of subjects, matched by sex and age, without any ophthalmologic alteration. The sample was composed of 22 patients (44 eyes) with Stargardt's disease, 11 (50%) males and 11 (50%) females. The duration of the disease varied from 3 to 21 years (mean of 11.4 +/- 5.3 years). The groups did not show significant differences in age (p= 0.98) and sex. Concerning the macular thickness in optical coherence tomography, the variation in the study group differed significantly from the control group, presenting smaller values of thickness (p<0.001). There was negative and significant correlation between the duration of disease and the macular thickness assessed by optical coherence tomography (r=-0.57 and p=0.005). There was positive correlation between the duration of the disease and the visual acuity (r=0.50 and p=0.0167) and negative correlation between the visual acuity and the macular thickness in optical coherence tomography (r=-0.83 and p=0.0001). It was evidenced that patients with Stargardt's disease have a thinner macular thickness when compared to normal subjects, and this reduction is related to the duration of symptoms of the disease. Additionally, the thickness and also the duration of the disease influence the visual prognosis of the patients.

  3. A Metabolic Study of Huntington's Disease.

    PubMed

    Nambron, Rajasree; Silajdžić, Edina; Kalliolia, Eirini; Ottolenghi, Chris; Hindmarsh, Peter; Hill, Nathan R; Costelloe, Seán J; Martin, Nicholas G; Positano, Vincenzo; Watt, Hilary C; Frost, Chris; Björkqvist, Maria; Warner, Thomas T

    2016-01-01

    Huntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers (premanifest and moderate stage II/III) and controls. Control (n = 15), premanifest (n = 14) and stage II/III (n = 13) participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a), fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test. We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington's disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine) there is a suggestion (p values between 0.02 and 0.05) that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious. Contrary to previous studies that showed altered levels of metabolic markers in patients with Huntington's disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington's disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that the majority

  4. Genetic studies of Crohn's disease: Past, present and future

    PubMed Central

    Liu, Jimmy Z.; Anderson, Carl A.

    2014-01-01

    The exact aetiology of Crohn's disease is unknown, though it is clear from early epidemiological studies that a combination of genetic and environmental risk factors contributes to an individual's disease susceptibility. Here, we review the history of gene-mapping studies of Crohn's disease, from the linkage-based studies that first implicated the NOD2 locus, through to modern-day genome-wide association studies that have discovered over 140 loci associated with Crohn's disease and yielded novel insights into the biological pathways underlying pathogenesis. We describe on-going and future gene-mapping studies that utilise next generation sequencing technology to pinpoint causal variants and identify rare genetic variation underlying Crohn's disease risk. We comment on the utility of genetic markers for predicting an individual's disease risk and discuss their potential for identifying novel drug targets and influencing disease management. Finally, we describe how these studies have shaped and continue to shape our understanding of the genetic architecture of Crohn's disease. PMID:24913378

  5. Cancer risk associated with chronic diseases and disease markers: prospective cohort study

    PubMed Central

    Tu, Huakang; Wen, Chi Pang; Tsai, Shan Pou; Chow, Wong-Ho; Wen, Christopher; Ye, Yuanqing; Zhao, Hua; Tsai, Min Kuang; Huang, Maosheng; Dinney, Colin P; Tsao, Chwen Keng

    2018-01-01

    Abstract Objectives To assess the independent and joint associations of major chronic diseases and disease markers with cancer risk and to explore the benefit of physical activity in reducing the cancer risk associated with chronic diseases and disease markers. Design Prospective cohort study. Setting Standard medical screening program in Taiwan. Participants 405 878 participants, for whom cardiovascular disease markers (blood pressure, total cholesterol, and heart rate), diabetes, chronic kidney disease markers (proteinuria and glomerular filtration rate), pulmonary disease, and gouty arthritis marker (uric acid) were measured or diagnosed according to standard methods, were followed for an average of 8.7 years. Main outcome measures Cancer incidence and cancer mortality. Results A statistically significantly increased risk of incident cancer was observed for the eight diseases and markers individually (except blood pressure and pulmonary disease), with adjusted hazard ratios ranging from 1.07 to 1.44. All eight diseases and markers were statistically significantly associated with risk of cancer death, with adjusted hazard ratios ranging from 1.12 to 1.70. Chronic disease risk scores summarizing the eight diseases and markers were positively associated with cancer risk in a dose-response manner, with the highest scores associated with a 2.21-fold (95% confidence interval 1.77-fold to 2.75-fold) and 4.00-fold (2.84-fold to 5.63-fold) higher cancer incidence and cancer mortality, respectively. High chronic disease risk scores were associated with substantial years of life lost, and the highest scores were associated with 13.3 years of life lost in men and 15.9 years of life lost in women. The population attributable fractions of cancer incidence or cancer mortality from the eight chronic diseases and markers together were comparable to those from five major lifestyle factors combined (cancer incidence: 20.5% v 24.8%; cancer mortality: 38.9% v 39.7%). Among

  6. Cancer risk associated with chronic diseases and disease markers: prospective cohort study.

    PubMed

    Tu, Huakang; Wen, Chi Pang; Tsai, Shan Pou; Chow, Wong-Ho; Wen, Christopher; Ye, Yuanqing; Zhao, Hua; Tsai, Min Kuang; Huang, Maosheng; Dinney, Colin P; Tsao, Chwen Keng; Wu, Xifeng

    2018-01-31

    To assess the independent and joint associations of major chronic diseases and disease markers with cancer risk and to explore the benefit of physical activity in reducing the cancer risk associated with chronic diseases and disease markers. Prospective cohort study. Standard medical screening program in Taiwan. 405 878 participants, for whom cardiovascular disease markers (blood pressure, total cholesterol, and heart rate), diabetes, chronic kidney disease markers (proteinuria and glomerular filtration rate), pulmonary disease, and gouty arthritis marker (uric acid) were measured or diagnosed according to standard methods, were followed for an average of 8.7 years. Cancer incidence and cancer mortality. A statistically significantly increased risk of incident cancer was observed for the eight diseases and markers individually (except blood pressure and pulmonary disease), with adjusted hazard ratios ranging from 1.07 to 1.44. All eight diseases and markers were statistically significantly associated with risk of cancer death, with adjusted hazard ratios ranging from 1.12 to 1.70. Chronic disease risk scores summarizing the eight diseases and markers were positively associated with cancer risk in a dose-response manner, with the highest scores associated with a 2.21-fold (95% confidence interval 1.77-fold to 2.75-fold) and 4.00-fold (2.84-fold to 5.63-fold) higher cancer incidence and cancer mortality, respectively. High chronic disease risk scores were associated with substantial years of life lost, and the highest scores were associated with 13.3 years of life lost in men and 15.9 years of life lost in women. The population attributable fractions of cancer incidence or cancer mortality from the eight chronic diseases and markers together were comparable to those from five major lifestyle factors combined (cancer incidence: 20.5% v 24.8%; cancer mortality: 38.9% v 39.7%). Among physically active (versus inactive) participants, the increased cancer risk

  7. Disease-Concordant Twins Empower Genetic Association Studies.

    PubMed

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case-control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease-concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease-concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost. © 2016 John Wiley & Sons Ltd/University College London.

  8. Advances in studies of disease-navigating webs: Sarcoptes scabiei as a case study

    PubMed Central

    2014-01-01

    The discipline of epidemiology is the study of the patterns, causes and effects of health and disease conditions in defined anima populations. It is the key to evidence-based medicine, which is one of the cornerstones of public health. One of the important facets of epidemiology is disease-navigating webs (disease-NW) through which zoonotic and multi-host parasites in general move from one host to another. Epidemiology in this context includes (i) classical epidemiological approaches based on the statistical analysis of disease prevalence and distribution and, more recently, (ii) genetic approaches with approximations of disease-agent population genetics. Both approaches, classical epidemiology and population genetics, are useful for studying disease-NW. However, both have strengths and weaknesses when applied separately, which, unfortunately, is too often current practice. In this paper, we use Sarcoptes scabiei mite epidemiology as a case study to show how important an integrated approach can be in understanding disease-NW and subsequent disease control. PMID:24406101

  9. The sensitivity, specificity and efficiency values of some serological tests used in the diagnosis of paracoccidioidomycosis.

    PubMed

    Del Negro, G M; Garcia, N M; Rodrigues, E G; Cano, M I; de Aguiar, M S; Lírio, V de S; Lacaz, C da S

    1991-01-01

    This work reports on the results of double immunodiffusion (ID), counterimmunoelectrophoresis (CIE), complement fixation (CF) and indirect immunofluorescence (IIF) techniques in the serodiagnosis of paracoccidioidomycosis. The study was undertaken on four groups of individuals: 46 patients with untreated paracoccidioidomycosis, 22 patients with other deep mycoses, 30 with other infectious diseases (tuberculosis and cutaneous leishmaniasis) and 47 blood donors as negative controls. Data were obtained using Paracoccidioides brasiliensis antigens, i.e., a yeast culture filtrate for ID, CIE and CF, and a yeast cell suspension for IIF. The sensitivity, specificity and efficiency values were measured according to GALEN & GAMBINO. The gel precipitation tests (ID and CIE) showed the greatest sensitivity (91.3 and 95.6%, respectively), maximum specificity (100%) and the highest efficiency values when compared to the CF and IIF tests.

  10. Fungal model systems and the elucidation of pathogenicity determinants

    PubMed Central

    Perez-Nadales, Elena; Almeida Nogueira, Maria Filomena; Baldin, Clara; Castanheira, Sónia; El Ghalid, Mennat; Grund, Elisabeth; Lengeler, Klaus; Marchegiani, Elisabetta; Mehrotra, Pankaj Vinod; Moretti, Marino; Naik, Vikram; Oses-Ruiz, Miriam; Oskarsson, Therese; Schäfer, Katja; Wasserstrom, Lisa; Brakhage, Axel A.; Gow, Neil A.R.; Kahmann, Regine; Lebrun, Marc-Henri; Perez-Martin, José; Di Pietro, Antonio; Talbot, Nicholas J.; Toquin, Valerie; Walther, Andrea; Wendland, Jürgen

    2014-01-01

    Fungi have the capacity to cause devastating diseases of both plants and animals, causing significant harvest losses that threaten food security and human mycoses with high mortality rates. As a consequence, there is a critical need to promote development of new antifungal drugs, which requires a comprehensive molecular knowledge of fungal pathogenesis. In this review, we critically evaluate current knowledge of seven fungal organisms used as major research models for fungal pathogenesis. These include pathogens of both animals and plants; Ashbya gossypii, Aspergillus fumigatus, Candida albicans, Fusarium oxysporum, Magnaporthe oryzae, Ustilago maydis and Zymoseptoria tritici. We present key insights into the virulence mechanisms deployed by each species and a comparative overview of key insights obtained from genomic analysis. We then consider current trends and future challenges associated with the study of fungal pathogenicity. PMID:25011008

  11. Genome-wide association studies in Alzheimer disease.

    PubMed

    Waring, Stephen C; Rosenberg, Roger N

    2008-03-01

    The genetics of Alzheimer disease (AD) to date support an age-dependent dichotomous model whereby earlier age of disease onset (< 60 years) is explained by 3 fully penetrant genes (APP [NCBI Entrez gene 351], PSEN1 [NCBI Entrez gene 5663], and PSEN2 [NCBI Entrez gene 5664]), whereas later age of disease onset (> or = 65 years) representing most cases of AD has yet to be explained by a purely genetic model. The APOE gene (NCBI Entrez gene 348) is the strongest genetic risk factor for later onset, although it is neither sufficient nor necessary to explain all occurrences of disease. Numerous putative genetic risk alleles and genetic variants have been reported. Although all have relevance to biological mechanisms that may be associated with AD pathogenesis, they await replication in large representative populations. Genome-wide association studies have emerged as an increasingly effective tool for identifying genetic contributions to complex diseases and represent the next frontier for furthering our understanding of the underlying etiologic, biological, and pathologic mechanisms associated with chronic complex disorders. There have already been success stories for diseases such as macular degeneration and diabetes mellitus. Whether this will hold true for a genetically complex and heterogeneous disease such as AD is not known, although early reports are encouraging. This review considers recent publications from studies that have successfully applied genome-wide association methods to investigations of AD by taking advantage of the currently available high-throughput arrays, bioinformatics, and software advances. The inherent strengths, limitations, and challenges associated with study design issues in the context of AD are presented herein.

  12. Post-approval Studies for Rare Disease Treatments and Orphan Drugs.

    PubMed

    Maier, William C; Christensen, Ronald A; Anderson, Patricia

    2017-01-01

    Drug development involves a multi-stage process of drug discovery, animal studies and human clinical trials to assess the safety and efficacy of new medications. Rare disease drug development involves a much smaller number of affected patients, a predominance of pediatric patients and more complicated disease presentation. Post-approval studies are designed to address several limitations associated with the rare disease clinical trials.National and international regulatory agencies in the US and Europe have adopted similar approaches to requirements post-approval data for rare diseases and orphan drug indications. The US FDA published guidance in 2011 and the European Medicines Agency in 2015.Post-approval studies for rare diseases include observational studies, pragmatic trials and randomized controlled studies. Observational studies include both original data collection studies and the use of secondary data (retrospective studies). Original data collection can address limitations of retrospective studies resulting from incomplete information in secondary data sources. Disease registries focus on detail about a broad range of patients with a rare disease while product-related registries focus on specific health care outcomes associated with a single product and may incorporate a comparator of an alternative therapy or therapies.Rare disease patients can be difficult to find and enroll in a registry using conventional physician based driven recruitment. The study process also needs to recognize changes in the patient's disease and lifestyle and adapt both the study design and methods over time. Many rare diseases have strong patient advocacy groups that can in aid the design and execution of rare disease registries.

  13. DNA linkage studies of degenerative retinal diseases.

    PubMed

    Daiger, S P; Heckenlively, J R; Lewis, R A; Pelias, M Z

    1987-01-01

    DNA linkage studies of human genetic diseases have led to rapid characterization of a number of otherwise intractable disease loci. Detection of a linked DNA marker, the first step in "reverse genetics", has permitted cloning of the genes for Duchenne muscular dystrophy, retinoblastoma and chronic granulomatosis disease, among others. Thus, the case for applying these techniques to retinitis pigmentosa and related diseases, and the urgency in capitalizing on molecular developments, is justified and compelling. The first major success regarding RP was in demonstrating linkage of the DNA marker DXS7 (L1.28) to XRP. For autosomal forms of the disease, conventional linkage studies have provided tentative evidence for linkage of ADRP to the Rh blood group on chromosome lp and for linkage of Usher's syndrome to Gc and 4q. These provisional assignments are, at least, an important starting point for DNA analysis. The Support Program for DNA Linkage Studies of Degenerative Retinal Diseases was established to provide access for the scientific community to appropriate families, using the resources of the Human Genetic Mutant Cell Repository to prepare, store and distribute lymphoblast lines. To date, two extensive, well-characterized families are included in the program: the autosomal dominant RP family UCLA-RP01, and the Usher's syndrome families LSU-US01. It is highly likely that rapid progress will be made in mapping and characterizing the inherited retinal dystrophies. We believe the support program will facilitate this progress.

  14. Use of disease risk scores in pharmacoepidemiologic studies.

    PubMed

    Arbogast, Patrick G; Ray, Wayne A

    2009-02-01

    Automated databases are increasingly used in pharmacoepidemiologic studies. These databases include records of prescribed medications and encounters with medical care providers from which one can construct very detailed surrogate measures for both drug exposure and covariates that are potential confounders. Often it is possible to track day-by-day changes in these variables. However, while this information is often critical for study success, its volume can pose challenges for statistical analysis. One common approach is the use of propensity scores. An alternative approach is to construct a disease risk score. This is analogous to the propensity score in that it calculates a summary measure from the covariates. However, the disease risk score estimates the probability or rate of disease occurrence conditional on being unexposed. The association between exposure and disease is then estimated adjusting for the disease risk score in place of the individual covariates. This review describes the use of disease risk scores in pharmacoepidemiologic studies, and includes a brief discussion of their history, a more detailed description of their construction and use, a summary of simulation studies comparing their performance vis-á-vis traditional models, a comparison of their utility with that of propensity scores, and some further topics for future research.

  15. Identifying randomized clinical trials in Spanish-language dermatology journals.

    PubMed

    Sanclemente, G; Pardo, H; Sánchez, S; Bonfill, X

    2015-06-01

    The necessary foundation for good clinical practice lies in knowledge derived from clinical research. Evidence from randomized clinical trials (RCTs) is the pillar on which decisions about therapy are based. To search exhaustively and rigorously to identify RCTs in dermatology journals published in Spanish. We located dermatology journals through the following search engines and indexes: PubMed, LILACS, SciELO, Periódica, Latindex, Índice Médico Español, C-17, IBECS, EMBASE, and IMBIOMED. We also sought information through dermatology associations and dermatologists in countries where Spanish was the usual language of publication, and we searched the Internet (Google). Afterwards we searched the journals electronically and manually to identify RCTs in all available volumes and issues, checking from the year publication started through 2012. Of 28 journals identified, we included 21 in the search. We found a total of 144 RCTs published since 1969; 78 (54%) were in Latin American journals and 66 (46%) were in Spanish journals. The most frequent disease contexts for RCTs in Spanish journals were psoriasis, mycoses, and acne vulgaris. In Latin American journals, the most frequent disease contexts were common warts, mycoses, acne vulgaris, and skin ulcers on the lower limbs. Manual searches identified more RCTs than electronic searches. Manual searches found a larger number of RCTs. Relatively fewer RCTs are published in Spanish and Latin American journals than in English-language journals. Internet facilitated access to full texts published by many journals; however, free open access to these texts is still unavailable and a large number of journal issues are still not posted online. Copyright © 2014 Elsevier España, S.L.U. and AEDV. All rights reserved.

  16. A Comparison of Aspergillus and Mucorales PCR Testing of Different Bronchoalveolar Lavage Fluid Fractions from Patients with Suspected Invasive Pulmonary Fungal Disease.

    PubMed

    Springer, Jan; White, P Lewis; Kessel, Johanna; Wieters, Imke; Teschner, Daniel; Korczynski, Daniel; Liebregts, Tobias; Cornely, Oliver A; Schwartz, Stefan; Elgeti, Thomas; Meintker, Lisa; Krause, Stefan W; Posso, Raquel B; Heinz, Werner J; Fuhrmann, Sandra; Vehreschild, Jörg Janne; Einsele, Hermann; Rickerts, Volker; Loeffler, Juergen

    2018-02-01

    In patients with hematological malignancies, bronchoalveolar lavage fluid (BALF) specimens are commonly used for the diagnosis of mold infections. However, it is not clear whether the cell pellet (P) or the supernatant fraction (S) of the BALF specimen is optimal for molecular diagnostic testing. Thus, 99 BALF specimens were collected from 96 hematology patients with or without allogeneic hematopoietic stem cell transplant. The cell pellets and supernatants were processed alone and in combination (S/P) for testing by two fungus-specific real-time PCR assays compliant with international recommendations. The results achieved with S/P were revealed to be superior in comparison to those achieved with S and P alone, with the use of each single fraction showing a reduced sensitivity for the detection of Aspergillus DNA (82% and 43% for S and P, respectively). In 57% of the samples, testing of the combination of S and P generated a lower quantification cycle value than testing of S or P alone. Molds would have been missed in 5 and 16 out of 28 samples if only S or P, respectively, was analyzed. No sample was positive by testing of S or P only. Similar results were obtained for the detection of Mucorales DNA in BALF specimens (reduced sensitivity of 67% and 50% for S and P, respectively). Study patients were categorized according to the current European Organization for the Research and Treatment of Cancer/Mycoses Study Group classification for invasive fungal disease (IFD), revealing that 35 patients had proven/probable IFD (36%), 47 patients had possible IFD (49%), and 14 patients had undetermined IFD (15%). Copyright © 2018 American Society for Microbiology.

  17. Beyond disease susceptibility-Leveraging genome-wide association studies for new insights into complex disease biology.

    PubMed

    Lee, J C

    2017-12-01

    Genetic studies in complex diseases have been highly successful, but have also been largely one-dimensional: predominantly focusing on the genetic contribution to disease susceptibility. While this is undoubtedly important-indeed it is a pre-requisite for understanding the mechanisms underlying disease development-there are many other important aspects of disease biology that have received comparatively little attention. In this review, I will discuss how existing genetic data can be leveraged to provide new insights into other aspects of disease biology, why such insights could change the way we think about complex disease, and how this could provide opportunities for better therapies and/or facilitate personalised medicine. To do this, I will use the example of Crohn's disease-a chronic form of inflammatory bowel disease that has been one of the main success stories in complex disease genetics. Indeed, thanks to genetic studies, we now have a much more detailed understanding of the processes involved in Crohn's disease development, but still know relatively little about what determines the subsequent disease course (prognosis) and why this differs so considerably between individuals. I will discuss how we came to realise that genetic variation plays an important role in determining disease prognosis and how this has changed the way we think about Crohn's disease genetics. This will illustrate how phenotypic data can be used to leverage new insights from genetic data and will provide a broadly applicable framework that could yield new insights into the biology of multiple diseases. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. Antifungal prophylaxis during neutropenia and immunodeficiency.

    PubMed Central

    Lortholary, O; Dupont, B

    1997-01-01

    Fungal infections represent a major source of morbidity and mortality in patients with almost all types of immunodeficiencies. These infections may be nosocomial (aspergillosis) or community acquired (cryptococcosis), or both (candidiasis). Endemic mycoses such as histoplasmosis, coccidioidomycosis, and penicilliosis may infect many immunocompromised hosts in some geographic areas and thereby create major public health problems. With the wide availability of oral azoles, antifungal prophylactic strategies have been extensively developed. However, only a few well-designed studies involving strict criteria have been performed, mostly in patients with hematological malignancies or AIDS. In these situations, the best dose and duration of administration of the antifungal drug often remain to be determined. In high-risk neutropenic or bone marrow transplant patients, fluconazole is effective for the prevention of superficial and/or systemic candidal infections but is not always able to prolong overall survival and potentially selects less susceptible or resistant Candida spp. Primary prophylaxis against aspergillosis remains investigative. At present, no standard general recommendation for primary antifungal prophylaxis can be proposed for AIDS patients or transplant recipients. However, for persistently immunocompromised patients who previously experienced a noncandidal systemic fungal infection, prolonged suppressive antifungal therapy is often indicated to prevent a relapse. Better strategies for controlling immune deficiencies should also help to avoid some potentially life-threatening deep mycoses. When prescribing antifungal prophylaxis, physicians should be aware of the potential emergence of resistant strains, drug-drug interactions, and the cost. Well-designed, randomized, multicenter clinical trials in high-risk immunocompromised hosts are urgently needed to better define how to prevent severe invasive mycoses. PMID:9227863

  19. Canine DLA diversity: 3. Disease studies.

    PubMed

    Kennedy, L J; Barnes, A; Short, A; Brown, J J; Seddon, J; Fleeman, L; Brkljacic, M; Happ, G M; Catchpole, B; Ollier, W E R

    2007-04-01

    There are many millions of dogs worldwide, and these dogs have many different functions. The most obvious use is providing companionship, but there are also many working dogs, including guide dogs for the blind, hearing dogs, guard dogs and farm dogs, to mention a few. The health and welfare of these dogs is of great concern to dog owners, dog breeders and to those who use dogs in their work. Dogs spontaneously develop many diseases that are very similar to their human counterparts. Dogs may, therefore, provide exceptional animal models for such diseases. Identifying genetic markers in the dog may be easier than in humans, and may then provide useful information about genes that can be transferred to humans. This study looked for associations between DLA and two autoimmune diseases of the dog, diabetes and hypothyroidism. DLA associations were found for both of these diseases.

  20. [Sinonasal fungal infections are not exclusively due to mucorales and Aspergillus!].

    PubMed

    Tauziède-Espariat, Arnault; Wassef, Michel; Adle-Biassette, Homa; Alanio, Alexandre; Bretagne, Stéphane; Lanternier, Fanny; Boui, Mohammed; Bouchaud, Olivier; Vironneau, Pierre; Kania, Romain; Jouvion, Grégory; Chrétien, Fabrice; Classe, Marion

    2016-08-01

    Rhino-sinusal infections are serious diseases and possibly lethal. When they are invasive, we easily discuss apergilloses and mucormycoses. The confirmation of the diagnosis of mucormycosis need an extensive surgery for precise histopathological and mycological evaluation. The pathologist may be faced to other rare mycoses such as phaeohyphomycoses, which present different morphological features than mucormycoses and Aspergillus. Once the diagnosis is established, an appropriate antifungal treatment is quickly started. The aim of our work is to report two observations of phaeohyphomycoses, to describe their histopathological features, to discuss complementary diagnostic methods and to present the main differential diagnoses. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  1. Early recognition of Cushing's disease: a case study.

    PubMed

    Iuliano, Sherry L; Laws, Edward R

    2013-08-01

    To present a case study of a 34-year-old woman with Cushing's disease and provide nurse practitioners (NPs) with the understanding of the clinical presentation needed for early recognition and treatment of the disease. A comprehensive review of published literature on Cushing's disease. Findings from history, physical examination, and diagnostic studies of a woman presenting to primary care NPs, physicians and other healthcare providers with multiple symptoms of Cushing's disease. Cushing's disease is the result of the pituitary gland producing excess amounts of adrenocorticotropic hormone (ACTH) causing the overproduction of cortisol. The disease is fairly rare and is seen mostly in women. Common chief complaints include increased facial hair, weight gain, amenorrhea, changes in the face, neck, and abdomen, with muscle wasting of the lower extremities. Untreated, diabetes mellitus and hypertension can occur and increase the patient's morbidity and mortality. Early recognition and appropriate referral can reverse the signs and symptoms over time and lead to a significantly improved quality of life. This case presented the challenges faced by NPs and physicians in diagnosing patients with Cushing's disease. ©2013 The Author(s) ©2013 American Association of Nurse Practitioners.

  2. Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

    PubMed

    Yeniçerioğlu, Yavuz; Akdam, Hakan; Dursun, Belda; Alp, Alper; Sağlam Eyiler, Funda; Akın, Davut; Gün, Yelda; Hüddam, Bülent; Batmazoğlu, Mehmet; Gibyeli Genek, Dilek; Pirinççi, Serhat; Ersoy, İsmail Rıfkı; Üzüm, Atilla; Soypaçacı, Zeki; Tanrısev, Mehmet; Çolak, Hülya; Demiral Sezer, Sibel; Bozkurt, Gökay; Akyıldız, Utku Oğan; Akyüz Ünsal, Ayşe İpek; Ünübol, Mustafa; Uslu, Meltem; Eryılmaz, Ufuk; Günel, Ceren; Meteoğlu, İbrahim; Yavaşoğlu, İrfan; Ünsal, Alparslan; Akar, Harun; Okyay, Pınar

    2017-11-01

    Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m 2 , 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

  3. Is there a role for antibody testing in the diagnosis of invasive candidiasis?

    PubMed

    Quindós, Guillermo; Moragues, María Dolores; Pontón, José

    2004-03-01

    During the last decades, the use of antibody tests for the diagnosis of invasive mycoses has declined as a consequence of the general belief that they are insensitive and non-specific. However, there is a clear evidence that antibodies can be detected in highly immunodeficient patients (such as bone marrow transplant recipients), and that those antibodies are useful for the diagnosis. Antibody tests are currently in use as diagnostic tools for some primary mycoses, such as the endemic mycoses, aspergilloma, allergic bronchopulmonary aspergilosis and sporothrichosis. For invasive candidiasis, diagnostic methods must differentiate Candida colonization of mucous membranes or superficial infection from tissue invasion by this microorganism. Substantial progress has been made in diagnosis of invasive candidiasis with the development of a variety of methods for the detection of antibodies and antigens. However, no single test has found widespread clinical use and there is a consensus that diagnosis based on a single specimen lacks sensitivity. It is necessary to test sequential samples taken while the patient is at greatest risk for developing invasive candidiasis to optimize the diagnosis. Results obtained from a panel of diagnostic tests in association with clinical aspects will likely be the most useful strategy for early diagnosis and therapy.

  4. Wearable Sensors in Huntington Disease: A Pilot Study.

    PubMed

    Andrzejewski, Kelly L; Dowling, Ariel V; Stamler, David; Felong, Timothy J; Harris, Denzil A; Wong, Cynthia; Cai, Hang; Reilmann, Ralf; Little, Max A; Gwin, Joseph T; Biglan, Kevin M; Dorsey, E Ray

    2016-06-18

    The Unified Huntington's Disease Rating Scale (UHDRS) is the principal means of assessing motor impairment in Huntington disease but is subjective and generally limited to in-clinic assessments. To evaluate the feasibility and ability of wearable sensors to measure motor impairment in individuals with Huntington disease in the clinic and at home. Participants with Huntington disease and controls were asked to wear five accelerometer-based sensors attached to the chest and each limb for standardized, in-clinic assessments and for one day at home. A second chest sensor was worn for six additional days at home. Gait measures were compared between controls, participants with Huntington disease, and participants with Huntington disease grouped by UHDRS total motor score using Cohen's d values. Fifteen individuals with Huntington disease and five controls completed the study. Sensor data were successfully captured from 18 of the 20 participants at home. In the clinic, the standard deviation of step time (time between consecutive steps) was increased in Huntington disease (p < 0.0001; Cohen's d = 2.61) compared to controls. At home with additional observations, significant differences were observed in seven additional gait measures. The gait of individuals with higher total motor scores (50 or more) differed significantly from those with lower total motor scores (below 50) on multiple measures at home. In this pilot study, the use of wearable sensors in clinic and at home was feasible and demonstrated gait differences between controls, participants with Huntington disease, and participants with Huntington disease grouped by motor impairment.

  5. [Cancer and mycoses and literature review].

    PubMed

    Develoux, M

    2017-02-01

    Various infectious agents are classical risk factors for cancer including bacteria, viruses and parasites. There is less evidence concerning the implication of fungal infection in carcinogenesis. The role of chronic Candida infection in the development of squamous cell carcinoma has been suspected for years. Candida sp are more prevalent in potentially malignant disorder and cancer of the oral mucosa. Other epidemiological evidence of a link between Candida infection and cancer is what is observed in patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). Oral and oesophagal carcinoma are frequent in these patients with chronic mucocutaneous candidiasis. Production of nitrosamine and metabolism of procarcinogen are mecanisms in which Candida sp may be involved in oral cancer development. In chromomycosis and lobomycosis chronic lesions may have a risk of malignant transformation. A diagnosis of paracoccidioidomycosis appears to increase the risk of lung cancer.

  6. Social media methods for studying rare diseases.

    PubMed

    Schumacher, Kurt R; Stringer, Kathleen A; Donohue, Janet E; Yu, Sunkyung; Shaver, Ashley; Caruthers, Regine L; Zikmund-Fisher, Brian J; Fifer, Carlen; Goldberg, Caren; Russell, Mark W

    2014-05-01

    For pediatric rare diseases, the number of patients available to support traditional research methods is often inadequate. However, patients who have similar diseases cluster "virtually" online via social media. This study aimed to (1) determine whether patients who have the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB) would participate in online research, and (2) explore response patterns to examine social media's role in participation compared with other referral modalities. A novel, internet-based survey querying details of potential pathogenesis, course, and treatment of PLE and PB was created. The study was available online via web and Facebook portals for 1 year. Apart from 2 study-initiated posts on patient-run Facebook pages at the study initiation, all recruitment was driven by study respondents only. Response patterns and referral sources were tracked. A total of 671 respondents with a Fontan palliation completed a valid survey, including 76 who had PLE and 46 who had PB. Responses over time demonstrated periodic, marked increases as new online populations of Fontan patients were reached. Of the responses, 574 (86%) were from the United States and 97 (14%) were international. The leading referral sources were Facebook, internet forums, and traditional websites. Overall, social media outlets referred 84% of all responses, making it the dominant modality for recruiting the largest reported contemporary cohort of Fontan patients and patients who have PLE and PB. The methodology and response patterns from this study can be used to design research applications for other rare diseases. Copyright © 2014 by the American Academy of Pediatrics.

  7. Clinical and mycological study of scalp white piedra in the State of Paraíba, Brazil.

    PubMed

    Pontes, Zélia Braz Vieira da Silva; Ramos, Adriano Lira; Lima, Edeltrudes de Oliveira; Guerra, Maria de Fátima de Lacerda; Oliveira, Neuza Maria Cavalcante; Santos, Jozemar Pereira dos

    2002-07-01

    White piedra is a superficial mycoses characterized by nodules on the hair shaft, caused by the basidiomycetous yeasts. In the present study, clinical and mycological findings of scalp white piedra caused by Trichosporon spp. are related. Twenty three cases of scalp white piedra were observed with a high incidence in women (87%) and preschool children from 2 to 6 (74%) years old. These groups presented a relationship of dependence with this infection. Despite the low socio-economic status, poor standards of hygiene, (48% of the patients) as well as the fact that 30.4% of the children shared the same nursery, these factors were not significant for the transmission of the mycosis. These were the first reports of scalp white piedra in João Pessoa city, Paraíba, Brazil.

  8. Innovative research methods for studying treatments for rare diseases: methodological review.

    PubMed

    Gagne, Joshua J; Thompson, Lauren; O'Keefe, Kelly; Kesselheim, Aaron S

    2014-11-24

    To examine methods for generating evidence on health outcomes in patients with rare diseases. Methodological review of existing literature. PubMed, Embase, and Academic Search Premier searched for articles describing innovative approaches to randomized trial design and analysis methods and methods for conducting observational research in patients with rare diseases. We assessed information related to the proposed methods, the specific rare disease being studied, and outcomes from the application of the methods. We summarize methods with respect to their advantages in studying health outcomes in rare diseases and provide examples of their application. We identified 46 articles that proposed or described methods for studying patient health outcomes in rare diseases. Articles covered a wide range of rare diseases and most (72%) were published in 2008 or later. We identified 16 research strategies for studying rare disease. Innovative clinical trial methods minimize sample size requirements (n=4) and maximize the proportion of patients who receive active treatment (n=2), strategies crucial to studying small populations of patients with limited treatment choices. No studies describing unique methods for conducting observational studies in patients with rare diseases were identified. Though numerous studies apply unique clinical trial designs and considerations to assess patient health outcomes in rare diseases, less attention has been paid to innovative methods for studying rare diseases using observational data. © Gagne et al 2014.

  9. Excessive daytime sleepiness in Parkinson disease: a SPECT study.

    PubMed

    Matsui, Hideaki; Nishinaka, Kazuto; Oda, Masaya; Hara, Narihiro; Komatsu, Kenichi; Kubori, Tamotsu; Udaka, Fukashi

    2006-07-01

    The underlying pathologic mechanism of excessive daytime sleepiness (EDS) in Parkinson disease and the relative contributions of brain function to this process are poorly understood. We compared brain perfusion images between patients with Parkinson disease and EDS and those without EDS using n-isopropyl-p-1231 iodoamphetamine single photon emission computed tomography. Clinical study. Sumitomo Hospital. Thirteen patients with Parkinson disease with EDS (EDS group) and 27 patients with Parkinson disease without EDS (no-EDS group) were studied. Whether or not each case had EDS was determined according to the response to the Epworth Sleepiness Scale: patients with an Epworth Sleepiness Scale score > or = 10 were included in the EDS group, and patients with an Epworth Sleepiness Scale score < or = 9 were included in the no-EDS group. There were significant hypoperfusions in the left parietal and temporal association cortex in the EDS group. In the multivariable logistic regression model, attention and decreased regional cerebral blood flow of the left parietal association cortex and right caudate and increased regional cerebral blood flow of the right thalamus were the independent and significant factors. The cortical hypofunction relative to hyperfunction of the brain stem may relate to EDS in Parkinson disease. This is the first imaging study about EDS in Parkinson disease, and further studies are required.

  10. A framework for investigating geographical variation in diseases, based on a study of Legionnaires' disease.

    PubMed

    Bhopal, R S

    1991-11-01

    Demonstration of geographical variations in disease can yield powerful insight into the disease pathway, particularly for environmentally acquired conditions, but only if the many problems of data interpretation can be solved. This paper presents the framework, methods and principles guiding a study of the geographical epidemiology of Legionnaires' Disease in Scotland. A case-list was constructed and disease incidence rates were calculated by geographical area; these showed variation. Five categories of explanation for the variation were identified: short-term fluctuations of incidence in time masquerading as differences by place; artefact; and differences in host-susceptibility, agent virulence, or environment. The methods used to study these explanations, excepting agent virulence, are described, with an emphasis on the use of previously existing data to test hypotheses. Examples include the use of mortality, census and hospital morbidity data to assess the artefact and host-susceptibility explanations; and the use of ratios of serology tests to disease to examine the differential testing hypothesis. The reasoning and process by which the environmental focus of the study was narrowed and the technique for relating the geographical pattern of disease to the putative source are outlined. This framework allows the researcher to plan for the parallel collection of the data necessary both to demonstrate geographical variation and to point to the likely explanation.

  11. Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

    PubMed

    Ionita-Laza, Iuliana; Ottman, Ruth

    2011-11-01

    The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected individuals. This framework allows us to quantify the enrichment in rare disease variants in families containing multiple affected individuals and to investigate the optimal design of studies aiming to identify rare disease variants in complex traits. We show that for many complex diseases with small values for the overall sibling recurrence risk ratio, such as Alzheimer's disease and most cancers, sequencing affected individuals with a positive family history of the disease can be extremely advantageous for identifying rare disease variants. In contrast, for complex diseases with large values of the sibling recurrence risk ratio, sequencing unselected affected individuals may be preferable.

  12. Indian chronic kidney disease study: Design and methods.

    PubMed

    Kumar, Vivek; Yadav, Ashok Kumar; Gang, Sishir; John, Oommen; Modi, Gopesh K; Ojha, Jai Prakash; Pandey, Rajendra; Parameswaran, Sreejith; Prasad, Narayan; Sahay, Manisha; Varughese, Santosh; Baid-Agarwal, Seema; Jha, Vivekanand

    2017-04-01

    The rate and factors that influence progression of chronic kidney disease (CKD) in developing countries like India are unknown. A pan-country prospective, observational cohort study is needed to address these knowledge gaps. The Indian Chronic Kidney Disease (ICKD) study will be a cohort study of approximately 5000 patients with mild to moderate CKD presenting to centres that represent different geographical regions in India. Time to 50% decline in baseline estimated glomerular filtration rate, need of renal replacement therapy or any new cardiovascular disease (CVD) event or death from CVD are the primary end points. This study will provide the opportunity to determine risk factors for CKD progression and development of CVD in Indian subjects and perform international comparisons to determine ethnic and geographical differences. A bio-repository will provide a chance to discover biomarkers and explore genetic risk factors. © 2016 Asian Pacific Society of Nephrology.

  13. Clinic-cytologic study of conjunctivochalasis and its relation to thyroid autoimmune diseases: prospective cohort study.

    PubMed

    de Almeida, Sandra Flavia Fiorentini; de Sousa, Luciene B; Vieira, Luis A; Chiamollera, Maria I; Barros, Jeison de N

    2006-08-01

    To determine the prevalence of conjunctivochalasis in patients with immune thyroid diseases, to determine whether there is any association between the 2 diseases, and to determine cytologic study of conjunctivochalasis through the cytology impression test. A clinical prospective cohort study carried out by the External Diseases Department in the Ophthalmology Sector and the Thyroid Department in the Endocrinology Sector at Federal University of Sao Paulo (UNIFESP). The patients included were divided into 2 groups following these inclusion criteria: a control group of 25 patients without thyroid diseases, confirmed after clinical and laboratory examinations (thyroid hormones), or any other ocular diseases. The study group consisted of 31 patients with thyroid diseases, the diagnosis of which was confirmed by the Endocrinology Sector. The thyroidopathies included were autoimmune diseases but excluded nonautoimmune diseases. A protocol endorsed by the UNIFESP was followed, using clinical and ophthalmological history, biomicroscopy, and impression cytology. Fifty-two percent of patients without thyroid diseases and 88% of patients with thyroid diseases presented with conjunctivochalasis. The risk ratio was 1.705 (Pr > chi(2) = 0.0038), indicating that there is an association between them. For the impression cytology in inferior bulbar conjunctiva, there was an association between the result of the impression cytology and conjunctivochalasis (Pearson chi(2) = 10.1190 Pr = 0.006). The prevalence of conjunctivochalasis in patients with autoimmune thyroid diseases was 88%. Patients with autoimmune thyroidopathy presented higher percentages of conjunctivochalasis than the control group, confirming the association between them. The cytologic study showed the highest prevalence of abnormal surface features in eyes with conjunctivochalasis.

  14. Lyme disease in children in southeastern Connecticut. Pediatric Lyme Disease Study Group.

    PubMed

    Gerber, M A; Shapiro, E D; Burke, G S; Parcells, V J; Bell, G L

    1996-10-24

    Although the incidence of Lyme disease is highest in children, there are few prospective data on the clinical manifestations and outcomes in children. We conducted a prospective, longitudinal, community-based cohort study of children with newly diagnosed Lyme disease in an area of Connecticut in which the disease is highly endemic. We obtained clinical and demographic information and performed serial antibody tests and follow-up evaluations. Over a period of 20 months, 201 consecutive patients were enrolled; their median age was 7 years (range, 1 to 21). The initial clinical manifestations of Lyme disease were a single erythema migrans lesion in 66 percent, multiple erythema migrans lesions in 23 percent, arthritis in 6 percent, facial-nerve palsy in 3 percent, aseptic meningitis in 2 percent, and carditis in 0.5 percent. At presentation, 37 percent of the patients with a single erythema migrans lesion and 89 percent of those with multiple erythema migrans lesions had antibodies against Borrelia burgdorferi. All but 3 of the 201 patients were treated for two to four weeks with conventional antimicrobial therapy, which was administered orally in 96 percent. All had prompt clinical responses. After four weeks, 94 percent were completely asymptomatic (including the two patients whose parents had refused to allow antimicrobial treatment). At follow-up a mean of 25.4 months later, none of the patients had evidence of either chronic or recurrent Lyme disease. Six patients subsequently had a new episode of erythema migrans. About 90 percent of children with Lyme disease present with erythema migrans, which is an early stage of the disease. The prognosis is excellent for those with early Lyme disease who are treated promptly with conventional courses of antimicrobial agents.

  15. Mycotic Infections Acquired outside Areas of Known Endemicity, United States

    PubMed Central

    Thompson, George R.; Deresinski, Stan; Chiller, Tom

    2015-01-01

    In the United States, endemic mycoses—blastomycosis, coccidioidomycosis, and histoplasmosis—pose considerable clinical and public health challenges. Although the causative fungi typically exist within broadly defined geographic areas or ecologic niches, some evidence suggests that cases have occurred in humans and animals not exposed to these areas. We describe cases acquired outside regions of traditionally defined endemicity. These patients often have severe disease, but diagnosis may be delayed because of a low index of suspicion for mycotic disease, and many more cases probably go entirely undetected. Increased awareness of these diseases, with a specific focus on their potential occurrence in unusual areas, is needed. Continued interdisciplinary efforts to reevaluate and better describe areas of true endemicity are warranted, along with a more nuanced view of the notion of endemicity. The term “nonendemic” should be used with care; mycoses in such regions might more accurately be considered “not known to be endemic.” PMID:26485441

  16. Clinical and epidemiological features of leishmaniasis in northwestern-Argentina through a retrospective analysis of recent cases.

    PubMed

    García Bustos, María F; González-Prieto, Gabriela; Ramos, Federico; Mora, María C; Hashiguchi, Yoshihisa; Parodi, Cecilia; Basombrío, Miguel A; Moreno, Sonia; Monroig, Sibila; Beckar, Josefina; Jaime, Daniela; Sajama, Jesús; Yeo, Matthew; Marco, Jorge D; Locatelli, Fabricio M; Barrio, Alejandra

    2016-02-01

    Leishmaniasis is a parasitic disease caused by hemoflagellates of the genus Leishmania and is transmitted to humans by the bite of infected phlebotomine sandflies. Depending on the Leishmania species, the disease has different clinical forms including cutaneous, mucocutaneous, and visceral manifestations. Previous studies performed in endemic zones of northwestern-Argentina, during epidemic outbreaks, have been important for detecting patients suffering from the acute phase of the disease, but have not given a complete representation of the clinical and epidemiological features in the region. Furthermore, due to the resurgence of leishmaniasis worldwide and in particular the large increase of international tourism to the region, it seems pertinent to update the current epidemiological and clinical profile of leishmaniasis in northwestern-Argentina. Here we present a retrospective analysis of 95 Leishmania positive cases, presenting between 2000 and 2014. Patients were derived from hospitals and diagnosed in our lab at the University of Salta, located in a non-endemic area in Salta, Argentina. We detected numerous extensive mucocutaneous cases (34/95, 35.8%) distinct from mucosal affected patients, some instances originating in locations with no previously reported human cases. Additionally patients suffering from concomitant diseases, besides leishmaniasis, were assessed. These included Chagas disease, syphilis, deep mycoses, tuberculosis, toxoplasmosis and intestinal parasitosis. This study updates the clinical and epidemiological features of leishmaniasis in northwestern-Argentina, and discusses the implications and management strategy for patients who acquire the disease in this region. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Heart diseases and long-term risk of dementia and Alzheimer's disease: a population-based CAIDE study.

    PubMed

    Rusanen, Minna; Kivipelto, Miia; Levälahti, Esko; Laatikainen, Tiina; Tuomilehto, Jaakko; Soininen, Hilkka; Ngandu, Tiia

    2014-01-01

    Many cardiovascular risk factors are shown to increase the risk of dementia and Alzheimer's disease (AD), but the impact of heart disease on later development of dementia is still unclear. The aim of the study was to investigate the long-term risk of dementia and Alzheimer's disease (AD) related to midlife and late-life atrial fibrillation (AF), heart failure (HF), and coronary artery disease (CAD) in a population-based study with a follow-up of over 25 years. Cardiovascular Risk Factors, Aging and Dementia (CAIDE) study includes 2000 participants who were randomly selected from four separate, population-based samples originally studied in midlife (1972, 1977, 1982, or 1987). Re-examinations were carried out in 1998 and 2005-2008. Altogether 1,510 (75.5%) persons participated in at least one re-examination, and 127 (8.4%) persons were diagnosed with dementia (of which 102 had AD). AF in late-life was an independent risk factor for dementia (HR 2.61, 95% CI 1.05-6.47; p = 0.039) and AD (HR 2.54, 95% CI 1.04-6.16; p = 0.040) in the fully adjusted analyses. The association was even stronger among the apolipoprotein E (APOE) ε4 non-carriers. Late-life HF, but not CAD, tended to increase the risks as well. Heart diseases diagnosed at midlife did not increase the risk of later dementia and AD. Late-life heart diseases increase the subsequent risk of dementia and AD. Prevention and effective treatment of heart diseases may be important also from the perspective of brain health and cognitive functioning.

  18. Stressors of School-age Children With Allergic Diseases: A Qualitative Study.

    PubMed

    Iio, Misa; Hamaguchi, Mana; Nagata, Mayumi; Yoshida, Koichi

    2018-05-08

    Most studies of stress in children with chronic diseases have been geared toward parents and caregivers have not considered allergic diseases together. This study aimed to identify the stressors associated with allergic diseases in Japanese school-age children. Stressors associated with allergic diseases of 11 school-age children (seven boys and four girls; age range: 9-12 years) were investigated using semi-structured interviews. In the qualitative thematic analysis of stressors about allergic diseases, two themes: allergic disease-specific stressors and common stressors in chronic diseases, and 12 categories were identified. A thematic map was applied to four domains of stressor: physiological factors, psychological factors, social factors, and environmental factors. The results showed that school-age children with allergic diseases have a variety of stressors. Future studies should aim to develop an allergic disease-specific stress management program with school-age children. In children with allergic diseases, not only is stress management in daily life important, but also stress management for disease-specific matters to control the symptoms and maintain mental health. Stress management should be supported for school-age children with allergic diseases. Copyright © 2018 Elsevier Inc. All rights reserved.

  19. Hamstring tightness and Scheuermann's disease a pilot study.

    PubMed

    Fisk, J W; Baigent, M L

    1981-06-01

    The lateral radiographs of the dorsal spines of 20 patients presenting with mainly low back pain are studied. These patients had clinically evident loss of flexion in the low dorsal spine and very tight hamstring muscles. 85% of them showed definite evidence of previous Scheuermann's Disease. The possibility that tight hamstrings may be an important factor in the aetiology of this disease is discussed, and a further large scale study is proposed.

  20. Radionuclide studies in Hodgkin's disease and lymphomas.

    PubMed

    Richman, S D; Levenson, S M; Jones, A E; Johnston, G S

    1975-01-01

    A rational, multidisciplinary approach to Hodgkin's disease and the non-Hodgkin's lymphomas has been responsible for major advances in therapy. Invasive diagnostic procedures and exploratory laparotomy, with their associated complications, make nontraumatic radionuclide imaging most appealing in both the clinical staging of disease and in evaluating therapy. Gallium-67-citrate, the tumor scanning agent of the early 1970's, has demonstrated a marked affinity for Hodgkin's disease and the other lymphomas. False positives are few, with sensitivity greater than 70% throughout the spectrum of Hodgkin's disease and the histiocytic lymphomas. In addition to confirming sites of suspected neoplasm, this agent has proved useful in the detection of occult involvement. Moreover, resolution of abnormal gallium-67 concentrations on follow-up studies functions as a visual ancillary index of therapeutic response. The value of wholebody gallium-67 scintigraphy is further enhanced when used in conjunction with routine technetium brain, bone, liver, and spleen scans. While the diagnostic accuracy of gallium-67 studies has been limited in the abdomen due to bowel activity, our attempts to improve these results with the tumor-seeking radiopharmaceutical indium-111-Bleomycin were unrewarding and subsequently were discontinued. Finally, radionuclide lymphography has also been explored. Its diagnostic usefulness in detecting pelvic and abdominal lymph node involvement warrants further investigation.

  1. A 27-Year-Old Severely Immunosuppressed Female with Misleading Clinical Features of Disseminated Cutaneous Sporotrichosis

    PubMed Central

    Patel, Atiyah; Mudenda, Victor; Lakhi, Shabir; Ngalamika, Owen

    2016-01-01

    Sporotrichosis is a subacute or chronic granulomatous mycosis caused by fungus of the Sporothrix schenckii complex. It is considered to be a rare condition in most parts of the world. It mostly causes cutaneous infection but can also cause multisystemic disease. Unlike most deep cutaneous mycoses which have a primary pulmonary focus, it is usually caused by direct inoculation of the fungus into the skin causing a classical linear, lymphocutaneous nodular eruption. However, atypical presentations of the condition can occur especially in immunosuppressed individuals. We report the case of a severely immunosuppressed female who presented with disseminated cutaneous sporotrichosis which was initially diagnosed and treated as disseminated cutaneous Kaposi's sarcoma. PMID:26881148

  2. Tackling emerging fungal threats to animal health, food security and ecosystem resilience.

    PubMed

    Fisher, Matthew C; Gow, Neil A R; Gurr, Sarah J

    2016-12-05

    Emerging infections caused by fungi have become a widely recognized global phenomenon. Their notoriety stems from their causing plagues and famines, driving species extinctions, and the difficulty in treating human mycoses alongside the increase of their resistance to antifungal drugs. This special issue comprises a collection of articles resulting from a Royal Society discussion meeting examining why pathogenic fungi are causing more disease now than they did in the past, and how we can tackle this rapidly emerging threat to the health of plants and animals worldwide.This article is part of the themed issue 'Tackling emerging fungal threats to animal health, food security and ecosystem resilience'. © 2016 The Author(s).

  3. Aging and Alzheimer's disease: lessons from the Nun Study.

    PubMed

    Snowdon, D A

    1997-04-01

    Sister Mary, the gold standard for the Nun Study, was a remarkable woman who had high cognitive test scores before her death at 101 years of age. What is more remarkable is that she maintained this high status despite having abundant neurofibrillary tangles and senile plaques, the classic lesions of Alzheimer's disease. Findings from Sister Mary and all 678 participants in the Nun Study may provide unique clues about the etiology of aging and Alzheimer's disease, exemplify what is possible in old age, and show how the clinical expression of some diseases may be averted.

  4. INCREASING PREVALENCE OF ADDISON DISEASE: RESULTS FROM A NATIONWIDE STUDY.

    PubMed

    Olafsson, Andri Snaer; Sigurjonsdottir, Helga Agusta

    2016-01-01

    Primary adrenal insufficiency is a life-threatening endocrine disease unless properly treated. However, few studies on the prevalence, concomitances of the disease, and prescribing of drugs have been published. The goal of the study was to establish the prevalence of primary adrenal insufficiency in Iceland and additionally, to study the most common concomitant diseases in patients with primary adrenal insufficiency, as well as the mode of glucocorticoid replacement therapies. To achieve this, the medical records of all patients in Iceland who had received the International Classification of Diseases and Related Health Problems, 10th Revision, diagnosis code E27, were evaluated for true primary adrenal insufficiency. Additionally, these records were evaluated for concomitant diseases, as well as the mode of glucocorticoid replacement therapy. The study covered the whole population of Iceland over 18 years of age. It was thus a nationwide study. The records were retrieved from large hospitals and clinics and every practicing specialist in endocrinology. Primary adrenal insufficiency was found in 53 individuals, 26 women and 27 men, yielding a prevalence of 22.1 per 100,000 population. Hypothyroidism was by far the most common concomitant disease. Most patients had their glucocorticoid deficiency replaced with short-acting glucocorticoids. The prevalence of primary adrenal insufficiency in Iceland is higher than in earlier reports, with comorbidities being in line with recent studies. Treatment is according to the latest protocols.

  5. Treatment of Crohn's disease with cannabis: an observational study.

    PubMed

    Naftali, Timna; Lev, Lihi Bar; Yablecovitch, Doron; Yablekovitz, Doron; Half, Elisabeth; Konikoff, Fred M

    2011-08-01

    The marijuana plant cannabis is known to have therapeutic effects, including improvement of inflammatory processes. However, no report of patients using cannabis for Crohn's disease (CD) was ever published. To describe the effects of cannabis use in patients suffering from CD. In this retrospective observational study we examined disease activity, use of medication, need for surgery, and hospitalization before and after cannabis use in 30 patients (26 males) with CD. Disease activity was assessed by the Harvey Bradshaw index for Crohn's disease. Of the 30 patients 21 improved significantly after treatment with cannabis. The average Harvey Bradshaw index improved from 14 +/- 6.7 to 7 +/- 4.7 (P < 0.001). The need for other medication was significantly reduced. Fifteen of the patients had 19 surgeries during an average period of 9 years before cannabis use, but only 2 required surgery during an average period of 3 years of cannabis use. This is the first report of cannabis use in Crohn's disease in humans. The results indicate that cannabis may have a positive effect on disease activity, as reflected by reduction in disease activity index and in the need for other drugs and surgery. Prospective placebo-controlled studies are warranted to fully evaluate the efficacy and side effects of cannabis in CD.

  6. [Situational perspective of disease. A social theory of disease based on a study of back trouble].

    PubMed

    Gannik, Dorte Effersøe

    2002-11-04

    This article presents a situational perspective of disease based on sociological theories and an empirical study of back trouble. The empirical findings device from a longitudinal study of 20 to 54-year-old men and women in the population of a mixed urban/rural area. Quantitative as well as qualitative methods were applied. The findings support a contextual view of disease. Back trouble can be described as a process which springs from and is conditioned by the person's relation to his/her environment, through the way this relation expresses itself in the ongoing situation. This is what is meant by the term "situational disease". Back trouble develops out of the "pool" of omnipresent symptoms in our everyday lives. The disease process seems to be changeable and reversible, corresponding to ongoing changes in the person-situation relation. This study concludes that disease is part of the local situation of the individual and implies that any generalisation from one person to another concerning etiology, treatment or prognosis should be made with great care. The findings concerning back trouble can be supposed to have broader validity based on a number of theoretical grounds.

  7. The oral-systemic disease connection: a retrospective study.

    PubMed

    Joseph, Bobby K; Kullman, Leif; Sharma, Prem N

    2016-11-01

    The study aimed at determining the association between oral disease and systemic health based on panoramic radiographs and general health of patients treated at Kuwait University Dental Center. The objective was to determine whether individuals exhibiting good oral health have lower propensity to systemic diseases. A total of 1000 adult patients treated at Kuwait University Dental Center were randomly selected from the patient's records. The general health of patients was assessed from the medical history of each patient recorded during their visit to the clinic. The number of reported diseases and serious symptoms were used to develop a medical index. The oral health of these patients was assessed from panoramic radiographs to create an oral index by evaluating such parameters as caries, periodontitis, periapical lesions, pericoronitis, and tooth loss. In a total of 887 patients, 43.8 % had an oral index between 3 and 8, of which significantly higher (62.1 %) patients were with medical conditions compared to those without (33.2 %; p < 0.001). The Spearmans's correlation (rho') revealed a positive correlation (rho' = 0.360, p 0.001) between oral and medical index. Partial correlation, while controlling demographics, gender, nationality, and age, also showed a significant positive correlation (p < 0.001) between medical and oral index. The findings of this study showed a significant association between oral health and general health and confirmed the findings of previous reports as regards the existing correlation between dental infections and medical disorders. These results are not indicative of a causal relationship when the diagnosis of oral disease was based primarily on radiographic findings. Future research needs to include prospective clinical and interventional studies. The significance of the oral-systemic disease connection highlights the importance of preventing and treating oral disease which have profound medical implications on general health.

  8. [Sporotrichosis and paracoccidioidomycosis in Peru: experiences in prevention and control].

    PubMed

    Zurita Macalupú, Susana

    2014-04-01

    The epidemiological picture of sporotrichosis and paracoccidioidomycosis in Peru and Latin America is sporadic, fragmented, and geographically limited, mainly due to lack of mandatory reporting and limited diagnostic coverage. However, research contributions related to understanding the interaction of these fungi, the response of the host and the environment, the use of spatial analysis that relates the distribution of these mycoses, population density and climate, contributes to the design of prevention and control strategies of these mycosis and suggest epidemiological risk maps management, based on the habitat of the fungus. This information will be used by doctors, tourists and people living in rural areas where mycoses are endemic. The aim of the paper is to present a review of the topic through research findings that contribute to the prevention and control of these mycosis.

  9. [Assessing incident cardiovascular and metabolic diseases in epidemiological cohort studies in Germany].

    PubMed

    Herrmann, Wolfram J; Weikert, Cornelia; Bergmann, Manuela; Boeing, Heiner; Katzke, Verena A; Kaaks, Rudolf; Tiller, Daniel; Greiser, Karin Halina; Heier, Margit; Meisinger, Christa; Schmidt, Carsten Oliver; Neuhauser, Hannelore; Heidemann, Christin; Jünger, Claus; Wild, Philipp S; Schramm, Sara Helena; Jöckel, Karl-Heinz; Dörr, Marcus; Pischon, Tobias

    2018-04-01

    Cardiovascular and metabolic diseases are a major cause of mortality and loss of quality of life in Germany. Research into risk factors of these diseases requires large population-based cohort studies. Complete and accurate assessment of the incidence of cardiovascular and metabolic diseases is a key element for valid interpretation of the results from such studies. Our aim was to identify population-based cohort studies with incidence of cardiovascular and metabolic diseases in Germany and to summarize their methods for assessment and classification of disease endpoints, including myocardial infarction, type 2 diabetes, stroke, heart failure, and arterial hypertension. Within the framework of a workshop, representatives of the ascertained population-based cohort studies in Germany with incidence of cardiovascular or metabolic diseases were invited to present and to systematically provide information on their methods of endpoint identification. We identified eight studies from different regions in Germany with a total of 100,571 participants, aged 18-83 years at baseline. Self-reporting by study participants is the major source for further inquiries to assess disease endpoints in these studies. Most studies use additional data sources to verify the incidence of diseases, such as documents provided by the treating physician or hospital. Our results highlight the central role of self-reporting and the efforts associated with identification and verification of disease endpoints in cohort studies. They also provide a basis for future population-based studies that aim for standardized assessment of the incidence of cardiovascular and metabolic diseases.

  10. A breath fungal secondary metabolite signature to diagnose invasive aspergillosis.

    PubMed

    Koo, Sophia; Thomas, Horatio R; Daniels, S David; Lynch, Robert C; Fortier, Sean M; Shea, Margaret M; Rearden, Preshious; Comolli, James C; Baden, Lindsey R; Marty, Francisco M

    2014-12-15

    Invasive aspergillosis (IA) remains a leading cause of mortality in immunocompromised patients, in part due to the difficulty of diagnosing this infection. Using thermal desorption-gas chromatography/mass spectrometry, we characterized the in vitro volatile metabolite profile of Aspergillus fumigatus, the most common cause of IA, and other pathogenic aspergilli. We prospectively collected breath samples from patients with suspected invasive fungal pneumonia from 2011 to 2013, and assessed whether we could discriminate patients with proven or probable IA from patients without aspergillosis, as determined by European Organization for Research and Treatment of Cancer/Mycoses Study Group consensus definitions, by direct detection of fungal volatile metabolites in these breath samples. The monoterpenes camphene, α- and β-pinene, and limonene, and the sesquiterpene compounds α- and β-trans-bergamotene were distinctive volatile metabolites of A. fumigatus in vitro, distinguishing it from other pathogenic aspergilli. Of 64 patients with suspected invasive fungal pneumonia based on host risk factors, clinical symptoms, and radiologic findings, 34 were diagnosed with IA, whereas 30 were ultimately diagnosed with other causes of pneumonia, including other invasive mycoses. Detection of α-trans-bergamotene, β-trans-bergamotene, a β-vatirenene-like sesquiterpene, or trans-geranylacetone identified IA patients with 94% sensitivity (95% confidence interval [CI], 81%-98%) and 93% specificity (95% CI, 79%-98%). In patients with suspected fungal pneumonia, an Aspergillus secondary metabolite signature in breath can identify individuals with IA. These results provide proof-of-concept that direct detection of exogenous fungal metabolites in breath can be used as a novel, noninvasive, pathogen-specific approach to identifying the precise microbial cause of pneumonia. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America

  11. Transcriptomics study of neurodegenerative disease: emphasis on synaptic dysfunction mechanism in Alzheimer's disease.

    PubMed

    Karim, Sajjad; Mirza, Zeenat; Ansari, Shakeel A; Rasool, Mahmood; Iqbal, Zafar; Sohrab, Sayed S; Kamal, Mohammad A; Abuzenadah, Adel M; Al-Qahtani, Mohammed H

    2014-01-01

    Alzheimer's disease (AD) is a common neurodegenerative disorder primarily affecting memory and thinking ability; caused by progressive degeneration and death of nerve cells. In this study, we integrated multiple dataset retrieved from the National Center for Biotechnology Information's Gene Expression Omnibus database, and took a systems-biology approach to compare and distinguish the molecular network based synaptic dysregulation associated with AD in particular and neurodegenerative diseases in general. We first identified 832 differentially expressed genes using cut off P value <0.5 and fold change > 2, followed by gene ontology study to identify genes associated with synapse (n=95) [membrane associated guanylate kinase, 2, amyloid beta precursor protein, neurotrophic tyrosine kinase, receptor, type 2], synapse part [γ-aminobutyric acid A receptor, γ1], synaptic vesicle [glutamate receptor, ionotropic, α-amino-3-hydroxy-5- methyl-4-isoxazole propionic acid receptor 2, synaptoporin], pre- and post-synaptic density [neuronal calcium sensor 1, glutamate receptor, metabotropic 3]. We integrated these data with known pathways using Ingenuity Pathway Analysis tool and found following synapse associated pathways to be most affected; γ-aminobutyric acid receptor signaling, synaptic long term potentiation/depression, nuclear factor-erythroid 2-related factor 2-mediated oxidative stress response, huntington's disease signaling and Reelin signaling in neurons. In conclusion, synaptic dysfunction is tightly associated with the development and progression of neurodegenerative diseases like AD.

  12. Review of epidemiological studies on drinking water hardness and cardiovascular diseases.

    PubMed

    Monarca, Silvano; Donato, Francesco; Zerbini, Ilaria; Calderon, Rebecca L; Craun, Gunther F

    2006-08-01

    Major risk factors do not entirely explain the worldwide variability of morbidity and mortality due to cardiovascular disease. Environmental exposures, including drinking water minerals may affect cardiovascular disease risks. We conducted a qualitative review of the epidemiological studies of cardiovascular disease and drinking water hardness and calcium and magnesium levels. Many but not all ecological studies found an inverse (i.e., protective) association between cardiovascular disease mortality and water hardness, calcium, or magnesium levels; but results are not consistent. Some case-control studies and one cohort study found either a reduced cardiovascular disease mortality risk with increased drinking water magnesium levels or an increased risk with low magnesium levels. However, the analytical studies provide little evidence that cardiovascular risks are associated with drinking water hardness or calcium levels. Information from epidemiological and other studies supports the hypothesis that a low intake of magnesium may increase the risk of dying from, and possibly developing, cardiovascular disease or stroke. Thus, not removing magnesium from drinking water, or in certain situations increasing the magnesium intake from water, may be beneficial, especially for populations with an insufficient dietary intake of the mineral.

  13. Genome Editing for the Study of Cardiovascular Diseases.

    PubMed

    Chadwick, Alexandra C; Musunuru, Kiran

    2017-03-01

    The opportunities afforded through the recent advent of genome-editing technologies have allowed investigators to more easily study a number of diseases. The advantages and limitations of the most prominent genome-editing technologies are described in this review, along with potential applications specifically focused on cardiovascular diseases. The recent genome-editing tools using programmable nucleases, such as zinc-finger nucleases, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9), have rapidly been adapted to manipulate genes in a variety of cellular and animal models. A number of recent cardiovascular disease-related publications report cases in which specific mutations are introduced into disease models for functional characterization and for testing of therapeutic strategies. Recent advances in genome-editing technologies offer new approaches to understand and treat diseases. Here, we discuss genome editing strategies to easily characterize naturally occurring mutations and offer strategies with potential clinical relevance.

  14. Genome Editing for the Study of Cardiovascular Diseases

    PubMed Central

    Chadwick, Alexandra C.

    2018-01-01

    Purpose of Review The opportunities afforded through the recent advent of genome-editing technologies have allowed investigators to more easily study a number of diseases. The advantages and limitations of the most prominent genome-editing technologies are described in this review, along with potential applications specifically focused on cardiovascular diseases. Recent Findings The recent genome-editing tools using programmable nucleases, such as zinc-finger nucleases, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9), have rapidly been adapted to manipulate genes in a variety of cellular and animal models. A number of recent cardiovascular disease-related publications report cases in which specific mutations are introduced into disease models for functional characterization and for testing of therapeutic strategies. Summary Recent advances in genome-editing technologies offer new approaches to understand and treat diseases. Here, we discuss genome editing strategies to easily characterize naturally occurring mutations and offer strategies with potential clinical relevance. PMID:28220462

  15. The co-occurrence of Alzheimer's disease and Huntington's disease: a neuropathological study of 15 elderly Huntington's disease subjects.

    PubMed

    Davis, Marie Y; Keene, C Dirk; Jayadev, Suman; Bird, Thomas

    2014-01-01

    Dementia is a common feature in both Huntington's disease (HD) and Alzheimer's disease (AD), as well as in the general elderly population. Few studies have examined elderly HD patients with dementia for neuropathologic evidence of both HD and AD. We present neuropathological findings in a retrospective case series of 15 elderly HD patients (ages 60-91 years), 11 of whom had prominent clinical dementia. Post-mortem brain tissue was examined and stained for evidence of both HD and AD including Vonsattel grading and Htt-repeat expansion, Bielskowsky, tau, β amyloid, and TDP43 immunostaining. Mean age at death was 76.8 years, mean disease duration was 18.6 years, and mean CAG repeat expansion was 42. Evidence of AD in addition to HD pathology was present in 9 of 11 (82%) patients with prominent dementia, suggesting that AD may be more commonly co-occurring with HD than previously appreciated. Two patients had only HD as the basis of dementia and four patients did not have prominent dementia. One patient with marked parkinsonian features was not L-dopa responsive and had no substantia nigra Lewy bodies at autopsy. Our study suggests that AD may frequently contribute to cognitive decline in elderly HD patients which complicates the assessment and management of such individuals. Further study is needed to determine if there is a higher incidence of AD in persons with HD compared to the general population. In addition, our series includes one HD patient whose clinical features masqueraded as Parkinson's disease but was not responsive to levodopa therapy.

  16. Thiazolidinediones and Parkinson Disease: A Cohort Study.

    PubMed

    Connolly, John G; Bykov, Katsiaryna; Gagne, Joshua J

    2015-12-01

    Thiazolidinediones, a class of medications indicated for the treatment of type 2 diabetes mellitus, reduce inflammation and have been shown to provide a therapeutic benefit in animal models of Parkinson disease. We examined the association between treatment with thiazolidinediones and the onset of Parkinson disease in older individuals. We performed a cohort study of 29,397 Medicare patients enrolled in state pharmaceutical benefits programs who initiated treatment with thiazolidinediones or sulfonylureas during the years 1997 through 2005 and had no prior diagnosis of Parkinson disease. New users of thiazolidinediones were propensity score matched to new users of sulfonylureas and followed to determine whether they were diagnosed with Parkinson disease. We used Cox proportional hazards models to compare time to diagnosis of Parkinson disease in the propensity score-matched populations. To assess the association with duration of use, we performed several analyses that required longer continuous use of medications. In the primary analysis, thiazolidinedione users had a hazard ratio for a diagnosis of Parkinson disease of 1.09 (95% confidence interval: 0.71, 1.66) when compared with sulfonylurea users. Increasing the duration-of-use requirements to 10 months did not substantially change the association; the hazard ratios ranged from 1.00 (95% confidence interval: 0.49, 2.05) to 1.17 (95% confidence interval: 0.60, 2.25). Thiazolidinedione use was not associated with a longer time to diagnosis of Parkinson disease than was sulfonylurea use, regardless of duration of exposure. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  17. A study of Legionnaire's disease in Zambia.

    PubMed

    Rolfe, M

    1986-06-01

    Legionnaire's disease has only rarely been reported in Africa. Following a case of pneumonia which was suggestive of Legionnaire's disease, a serological survey of people in the same community showed a titre of 1:256 or more in 10% of 73 sera examined by the indirect fluorescent antibody test using heat-inactivated antigen. However, on retesting using formolized yolk-sac antigen these results could not be substantiated. A further study of 105 patients with pneumonia failed to show a rising antibody titre using acute and convalescent serum.

  18. Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.

    PubMed

    Song, Peipei; He, Jiangjiang; Li, Fen; Jin, Chunlin

    2017-02-01

    China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases - the "Rare Diseases Clinical Cohort Study" - was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020. The project plans to develop 109 technical standards, to establish and improve 2 national databases of rare diseases - a multi-center clinical database and a biological sample library, and to conduct studies on more than 50,000 registered cases of 50 different rare diseases. More importantly, this study will be combined with the concept of precision medicine. Chinese population-specific basic information on rare diseases, clinical information, and genomic information will be integrated to create a comprehensive predictive model with a follow-up database system and a model to evaluate prognosis. This will provide the evidence for accurate classification, diagnosis, treatment, and estimation of prognosis for rare diseases in China. Numerous challenges including data standardization, protecting patient privacy, big data processing, and interpretation of genetic information still need to be overcome, but research prospects offer great promise.

  19. Studying infrared light therapy for treating Alzheimer's disease

    NASA Astrophysics Data System (ADS)

    Han, Mengmeng; Wang, Qiyan; Zeng, Yuhui; Meng, Qingqiang; Zhang, Jun; Wei, Xunbin

    2016-03-01

    Alzheimer's disease (AD) is an extensive neurodegenerative disease. It is generally believed that there are some connections between AD and amyloid protein plaques in the brain. AD is a chronic disease that usually starts slowly and gets worse over time. The typical symptoms are memory loss, language disorders, mood swings and behavioral issues. Gradual losses of somatic functions eventually lead patients to death. Currently, the main therapeutic method is pharmacotherapy, which may temporarily reduce symptoms, but has many side effects. No current treatment can reverse AD's deterioration. Infrared (IR) light therapy has been studied in a range of single and multiple irradiation protocols in previous studies and was found beneficial for neuropathology. In our research, we have verified the effect of infrared light on AD through Alzheimer's disease mouse model. This transgenic mouse model is made by co-injecting two vectors encoding mutant amyloid precursor protein (APP) and mutant presenilin-1 (PSEN1). We designed an experimental apparatus for treating mice, which primarily includes a therapeutic box and a LED array, which emits infrared light. After the treatment, we assessed the effects of infrared light by testing cognitive performance of the mice in Morris water maze. Our results show that infra-red therapy is able to improve cognitive performance in the mouse model. It might provide a novel and safe way to treat Alzheimer's disease.

  20. Alzheimer's disease is associated with prostate cancer: a population-based study.

    PubMed

    Lin, Herng-Ching; Kao, Li-Ting; Chung, Shiu-Dong; Huang, Chung-Chien; Shia, Ben-Chang; Huang, Chao-Yuan

    2018-01-26

    Alzheimer's disease and cancer are increasingly prevalent with advancing age. However, the association between Alzheimer's disease and prostate cancer remains unclear. The aim of this study was to examine the relationship between prior Alzheimer's disease and subsequent prostate cancer using a population-based dataset in Taiwan. Data for this study were sourced from the Taiwan Longitudinal Health Insurance Database 2005. This case-control study included 2101 prostate cancer patients as cases and 6303 matched controls. We used conditional logistic regression analyses to calculate the odds ratio (OR) and corresponding 95% confidence interval (CI) for Alzheimer's disease between prostate cancer patients and controls. We found that of the 8404 sampled patients, 128 (1.5%) had been diagnosed with Alzheimer's disease prior to the index date. A Chi-squared test showed that there was a significant difference in the prevalences of prior Alzheimer's disease between prostate cancer patients and controls (2.1% vs. 1.3%, p < 0.001). The conditional logistic regression analysis showed that the OR of prior Alzheimer's disease for prostate cancer patients was 1.53 (95% CI: 1.06∼2.21) compared to controls. Furthermore, the OR of prior Alzheimer's disease for prostate cancer patients was 1.52 (95% CI: 1.04∼2.22) compared to controls after adjusting for hypertension, diabetes, coronary heart disease, hyperlipidemia, obesity, prostatitis, gonorrhea or chlamydia infection, testitis or epididymitis, and alcohol abuse/alcohol dependency syndrome. This study revealed an association between prior Alzheimer's disease and prostate cancer. We suggest that clinicians be alert to the increased risk of prostate cancer when caring for elderly individuals with Alzheimer's disease.

  1. Histopathological retrospective study of canine renal disease in Korea, 2003~2008

    PubMed Central

    Yhee, Ji-Young; Yu, Chi-Ho; Kim, Jong-Hyuk; Im, Keum-Soon; Chon, Seung-Ki

    2010-01-01

    Renal disease includes conditions affecting the glomeruli, tubules, interstitium, pelvis, and vasculature. Diseases of the kidney include glomerular diseases, diseases of the tubules and interstitium, diseases of renal pelvis, and developmental abnormalities. Renal tissue samples (n = 70) submitted to the Department of Veterinary Pathology of Konkuk University from 2003 to 2008 were included in this study. Tissue histopathology was performed using light microscopy with hematoxylin and eosin stains. Masson's trichrome, Congo Red, and Warthin starry silver staining were applied in several individual cases. Glomerular diseases (22.9%), tubulointerstitial diseases (8.6%), neoplastic diseases (8.6%), conditions secondary to urinary obstruction (24.3%), and other diseases (35.7%) were identified. Glomerulonephritis (GN) cases were classified as acute proliferative GN (5.7%), membranous GN (4.3%), membranoproliferative GN (4.3%), focal segmental GN (2.9%), and other GN (4.2%). The proportion of canine GN cases presently identified was not as high as the proportions identified in human studies. Conversely, urinary obstruction and end-stage renal disease cases were relatively higher in dogs than in human populations. PMID:21113095

  2. Ferritin and iron studies in anaemia and chronic disease.

    PubMed

    Peng, Ying Y; Uprichard, James

    2017-01-01

    Anaemia is a condition in which the number of red cells necessary to meet the body's physiological requirements is insufficient. Iron deficiency anaemia and the anaemia of chronic disease are the two most common causes of anaemia worldwide; 1 iron homeostasis plays a pivotal role in the pathogenesis of both diseases. An understanding of how iron studies can be used to distinguish between these diseases is therefore essential not only for diagnosis but also in guiding management. This review will primarily focus on iron deficiency anaemia and anaemia of chronic disease; however, iron overload in anaemia will also be briefly discussed.

  3. 1H-MRSI applied to study Huntington's disease

    NASA Astrophysics Data System (ADS)

    Rodríguez, A. O.

    2000-10-01

    In vivo Magnetic Resonance Spectrocopy (MRS) was applied to study Huntington's disease. Two solvent-suppressed and single-voxel MRS methods were used: PRESS and STEAM. We applied these popular MRS sequences to Huntington's disease patients (HD) and healthy volunteers (HV). We also compared our spectra between HD and HV as well the these two modalities. Spectra results are reported for HD and HV for both MRS schemes.

  4. Dry Eye Disease Incidence Associated with Chronic Graft-Host Disease: Nonconcurrent Cohort Study (An American Ophthalmological Society Thesis)

    PubMed Central

    Mian, Shahzad I.; De la Parra-Colín, Paola; De Melo-Franco, Rafael; Johnson, Christopher; Barrientos-Gutierrez, Tonatiuh

    2015-01-01

    Purpose: To determine if chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation (HSCT) is associated with stable or progressive dry eye disease and to determine the true incidence in patients with no prior history of dry eye disease. Methods: A nonconcurrent cohort study at a single institution with 136 patients who had no previous history of dry eye disease before HSCT. Survival analysis was used to estimate dry eye disease incidence. The incidence rate was calculated using life tables as the number of observed dry eye disease cases divided by the person-time at risk accumulated by the cohort. Transition probabilities were calculated from time of transplant to time of diagnosis, and then to last recorded visit. Results: Incidence rate was 0.8 cases of dry eye disease per person-year, and half of the population at risk developed dry eye disease during the first 10 months post transplant. Time to develop dry eye disease was 2.5 months for mild dry eye disease, 9.6 months for moderate dry eye disease, and 13.2 months for severe dry eye disease. In terms of cumulative incidence, 73% of subjects developed dry eye disease (50% mild, 16% moderate, and 7% severe) at the time of diagnosis. Conclusions: Our findings suggest that dry eye disease associated with cGVHD is an extremely frequent event and shows a wide spectrum of severity, with a mild form presenting early and a moderate to severe form presenting later after HSCT. These findings need to be studied further to elucidate if these are two different pathophysiological entities or just different expressions of the same pathology. PMID:27507907

  5. White piedra, black piedra, tinea versicolor, and tinea nigra: contribution to the diagnosis of superficial mycosis.

    PubMed

    Veasey, John Verrinder; Avila, Ricardo Bertozzi de; Miguel, Barbara Arruda Fraletti; Muramatu, Laura Hitomi

    2017-01-01

    Superficial mycoses are fungal infections restricted to the stratum corneum and to the hair shafts, with no penetration in the epidermis; they are: white piedra, black piedra, tinea versicolor, and tinea nigra. This study presents images of mycological tests performed in the laboratory, as well as exams performed at the authors office, in order to improve the dermatologist's knowledge about the diagnosis of these dermatoses, which are common in many countries.

  6. An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.

    PubMed

    Yang, Jin Ok; Hwang, Sohyun; Oh, Jeongsu; Bhak, Jong; Sohn, Tae-Kwon

    2008-12-12

    Studies on the relationship between disease and genetic variations such as single nucleotide polymorphisms (SNPs) are important. Genetic variations can cause disease by influencing important biological regulation processes. Despite the needs for analyzing SNP and disease correlation, most existing databases provide information only on functional variants at specific locations on the genome, or deal with only a few genes associated with disease. There is no combined resource to widely support gene-, SNP-, and disease-related information, and to capture relationships among such data. Therefore, we developed an integrated database-pipeline system for studying SNPs and diseases. To implement the pipeline system for the integrated database, we first unified complicated and redundant disease terms and gene names using the Unified Medical Language System (UMLS) for classification and noun modification, and the HUGO Gene Nomenclature Committee (HGNC) and NCBI gene databases. Next, we collected and integrated representative databases for three categories of information. For genes and proteins, we examined the NCBI mRNA, UniProt, UCSC Table Track and MitoDat databases. For genetic variants we used the dbSNP, JSNP, ALFRED, and HGVbase databases. For disease, we employed OMIM, GAD, and HGMD databases. The database-pipeline system provides a disease thesaurus, including genes and SNPs associated with disease. The search results for these categories are available on the web page http://diseasome.kobic.re.kr/, and a genome browser is also available to highlight findings, as well as to permit the convenient review of potentially deleterious SNPs among genes strongly associated with specific diseases and clinical phenotypes. Our system is designed to capture the relationships between SNPs associated with disease and disease-causing genes. The integrated database-pipeline provides a list of candidate genes and SNP markers for evaluation in both epidemiological and molecular

  7. Can Plant Microbiome Studies Lead to Effective Biocontrol of Plant Diseases?

    PubMed

    Ellis, Jeffrey G

    2017-03-01

    In this review, the wisdom and efficacy of studies seeking disease attenuating microbes and microbiomes only in healthy plant communities is questioned and an alternative view is posited, namely that success in biocontrol of crop diseases may also come from studies of microbiota, or at least individual species isolates, associated with diseased plants. In support of this view, I summarize the current extensive knowledge of the biology behind what is probably the most successful biocontrol of a plant disease, namely the biocontrol of crown gall of stone fruit using non-pathogenic Rhizobium rhizogenes K84, in which the biocontrol agent itself came from a diseased plant.

  8. Periodontal disease and adverse birth outcomes: a study from Pakistan.

    PubMed

    Mobeen, N; Jehan, I; Banday, N; Moore, J; McClure, E M; Pasha, O; Wright, L L; Goldenberg, R L

    2008-05-01

    Periodontal disease may increase the risk of adverse birth outcomes; however, results have been mixed. Few studies have examined periodontal disease in developing countries. We describe the relationship between periodontal disease and birth outcomes in a community setting in Pakistan. This was a prospective cohort study. Enrollment occurred at 20-26 weeks of gestation. A study dentist performed the periodontal examination to assess probing depth, clinical attachment level, gingival index, and plaque index. Outcomes included stillbirth, neonatal death, perinatal death, < 32 weeks preterm birth, 32-36 weeks preterm birth, and low birthweight and are presented for increasing periodontal disease severity by quartiles. Dental examinations and outcome data were completed for 1152 women: 81% of the women were multiparous, with a mean age of 27 years; 33% of the women had no education. Forty-seven percent of the women had dental caries; 27% of the women had missing teeth, and 91% of the women had had no dental care in the last year. Periodontal disease was common: 76% of the women had > or = 3 teeth with a probing depth of > or = 3 mm; 87% of the women had > or = 4 teeth with a clinical attachment level of > or = 3 mm; 56% of the women had > or = 4 teeth with a plaque index of 3; and 60% of the women had > or = 4 teeth with a gingival index of 3. As the measures of periodontal disease increased from the 1st to 4th quartile, stillbirth and neonatal and perinatal death also increased, with relative risks of approximately 1.3. Early preterm birth increased, but the results were not significant. Late preterm birth and low birthweight were not related to measures of periodontal disease. Pregnant Pakistani women have high levels of moderate-to-severe dental disease. Stillbirth and neonatal and perinatal deaths increased with the severity of periodontal disease.

  9. Multifractal detrended cross correlation analysis of neuro-degenerative diseases-An in depth study

    NASA Astrophysics Data System (ADS)

    Dutta, Srimonti; Ghosh, Dipak; Chatterjee, Sucharita

    2018-02-01

    This work revisits our previous study on human gait diseases, (Dutta et al., 2013) where we have studied the autocorrelation of human gait pattern in normal and diseased set. Significant difference in results was observed for normal and diseased set. However we were not able to distinguish between sets of Parkinson's and Huntington's disease. In this paper we attempt to study whether cross correlations between two feet of human gait pattern can help to distinguish between different diseased set. The results reveal that study of cross correlations can help to distinguish between Parkinson's and Huntington's disease.

  10. The Hanford Thyroid Disease Study: an alternative view of the findings.

    PubMed

    Hoffman, F Owen; Ruttenber, A James; Apostoaei, A Iulian; Carroll, Raymond J; Greenland, Sander

    2007-02-01

    The Hanford Thyroid Disease Study (HTDS) is one of the largest and most complex epidemiologic studies of the relation between environmental exposures to I and thyroid disease. The study detected no dose-response relation using a 0.05 level for statistical significance. The results for thyroid cancer appear inconsistent with those from other studies of populations with similar exposures, and either reflect inadequate statistical power, bias, or unique relations between exposure and disease risk. In this paper, we explore these possibilities, and present evidence that the HTDS statistical power was inadequate due to complex uncertainties associated with the mathematical models and assumptions used to reconstruct individual doses. We conclude that, at the very least, the confidence intervals reported by the HTDS for thyroid cancer and other thyroid diseases are too narrow because they fail to reflect key uncertainties in the measurement-error structure. We recommend that the HTDS results be interpreted as inconclusive rather than as evidence for little or no disease risk from Hanford exposures.

  11. Voice Tremor in Parkinson's Disease: An Acoustic Study.

    PubMed

    Gillivan-Murphy, Patricia; Miller, Nick; Carding, Paul

    2018-01-30

    Voice tremor associated with Parkinson disease (PD) has not been characterized. Its relationship with voice disability and disease variables is unknown. This study aimed to evaluate voice tremor in people with PD (pwPD) and a matched control group using acoustic analysis, and to examine correlations with voice disability and disease variables. Acoustic voice tremor analysis was completed on 30 pwPD and 28 age-gender matched controls. Voice disability (Voice Handicap Index), and disease variables of disease duration, Activities of Daily Living (Unified Parkinson's Disease Rating Scale [UPDRS II]), and motor symptoms related to PD (UPDRS III) were examined for relationship with voice tremor measures. Voice tremor was detected acoustically in pwPD and controls with similar frequency. PwPD had a statistically significantly higher rate of amplitude tremor (Hz) than controls (P = 0.001). Rate of amplitude tremor was negatively and significantly correlated with UPDRS III total score (rho -0.509). For pwPD, the magnitude and periodicity of acoustic tremor was higher than for controls without statistical significance. The magnitude of frequency tremor (Mftr%) was positively and significantly correlated with disease duration (rho 0.463). PwPD had higher Voice Handicap Index total, functional, emotional, and physical subscale scores than matched controls (P < 0.001). Voice disability did not correlate significantly with acoustic voice tremor measures. Acoustic analysis enhances understanding of PD voice tremor characteristics, its pathophysiology, and its relationship with voice disability and disease symptomatology. Copyright © 2018 The Voice Foundation. All rights reserved.

  12. Association Studies of Sporadic Parkinson’s Disease in the Genomic Era

    PubMed Central

    Labbé, Catherine; Ross, Owen A

    2014-01-01

    Parkinson’s disease is a common age-related progressive neurodegenerative disorder. Over the last 10 years, advances have been made in our understanding of the etiology of the disease with the greatest insights perhaps coming from genetic studies, including genome-wide association approaches. These large scale studies allow the identification of genomic regions harboring common variants associated to disease risk. Since the first genome-wide association study on sporadic Parkinson’s disease performed in 2005, improvements in study design, including the advent of meta-analyses, have allowed the identification of ~21 susceptibility loci. The first loci to be nominated were previously associated to familial PD (SNCA, MAPT, LRRK2) and these have been extensively replicated. For other more recently identified loci (SREBF1, SCARB2, RIT2) independent replication is still warranted. Cumulative risk estimates of associated variants suggest that more loci are still to be discovered. Additional association studies combined with deep re-sequencing of known genome-wide association study loci are necessary to identify the functional variants that drive disease risk. As each of these associated genes and variants are identified they will give insight into the biological pathways involved the etiology of Parkinson’s disease. This will ultimately lead to the identification of molecules that can be used as biomarkers for diagnosis and as targets for the development of better, personalized treatment. PMID:24653658

  13. Caenorhabditis elegans as an experimental tool for the study of complex neurological diseases: Parkinson's disease, Alzheimer's disease and autism spectrum disorder.

    PubMed

    Calahorro, Fernando; Ruiz-Rubio, Manuel

    2011-12-01

    The nematode Caenorhabditis elegans has a very well-defined and genetically tractable nervous system which offers an effective model to explore basic mechanistic pathways that might be underpin complex human neurological diseases. Here, the role C. elegans is playing in understanding two neurodegenerative conditions, Parkinson's and Alzheimer's disease (AD), and a complex neurological condition, autism, is used as an exemplar of the utility of this model system. C. elegans is an imperfect model of Parkinson's disease because it lacks orthologues of the human disease-related genes PARK1 and LRRK2 which are linked to the autosomal dominant form of this disease. Despite this fact, the nematode is a good model because it allows transgenic expression of these human genes and the study of the impact on dopaminergic neurons in several genetic backgrounds and environmental conditions. For AD, C. elegans has orthologues of the amyloid precursor protein and both human presenilins, PS1 and PS2. In addition, many of the neurotoxic properties linked with Aβ amyloid and tau peptides can be studied in the nematode. Autism spectrum disorder is a complex neurodevelopmental disorder characterised by impairments in human social interaction, difficulties in communication, and restrictive and repetitive behaviours. Establishing C. elegans as a model for this complex behavioural disorder is difficult; however, abnormalities in neuronal synaptic communication are implicated in the aetiology of the disorder. Numerous studies have associated autism with mutations in several genes involved in excitatory and inhibitory synapses in the mammalian brain, including neuroligin, neurexin and shank, for which there are C. elegans orthologues. Thus, several molecular pathways and behavioural phenotypes in C. elegans have been related to autism. In general, the nematode offers a series of advantages that combined with knowledge from other animal models and human research, provides a powerful

  14. Alzheimer's disease: a correlative study.

    PubMed Central

    Neary, D; Snowden, J S; Mann, D M; Bowen, D M; Sims, N R; Northen, B; Yates, P O; Davison, A N

    1986-01-01

    In a study of 17 patients with histologically proven Alzheimer's disease the relationship between psychological, pathological and chemical measures of disorder was examined. Severity of dementia, determined by mental test performance, correlated highly with pathological change in large cortical neurons (cell loss and reduction in nuclear and nucleolar volume and cytoplasmic RNA content), to a lesser extent with cortical senile plaque and neurofibrillary tangle frequency and reduction in acetylcholine (ACh) synthesis, and not with reduction in choline acetyltransferase (CAT) activity. A strongly significant relationship was demonstrated between cell loss and reductions in nuclear and nucleolar volume and cytoplasmic RNA content. Reduction in CAT activity and senile plaque frequency were significantly correlated, thereby linking changes in the sub-cortical projection system of the nucleus basalis with the cortical pathology. The pattern of correlations suggests that the dementia of Alzheimer's disease is largely a reflection of the state of large cortical neurons, and it is argued that abnormalities in the latter may not be directly related to primary loss of cholinergic neurons in the subcortex. PMID:2420941

  15. Trend of Gastrointestinal and Liver Diseases in Iran: Results of the Global Burden of Disease Study, 2010.

    PubMed

    Sepanlou, Sadaf Ghajarieh; Malekzadeh, Fatemeh; Naghavi, Mohsen; Forouzanfar, Mohammad Hossein; Shahraz, Saeid; Moradi-Lakeh, Maziar; Malekzadeh, Reza; Poustchi, Hossein

    2015-07-01

    BACKGROUND The general pattern of epidemiologic transition from communicable to noncommunicable diseases is also observed for gastrointestinal and liver diseases (GILD), which constitute a heterogeneous array of causes of death and disability. We aimed to describe the trend of GILD in Iran based on the global burden of disease (GBD2010) study from 1990 to 2010. METHODS The trend of number of deaths, disability, adjusted life years (DALYs) and their age-standardized rates caused by 5 major GILD have been reported. The change in the rankings of major causes of death and DALY has been described as well. RESULTS The age standardized rates of death and DALYs in both sexes have decreased from 1990 to 2010 for most GILD. The most prominent decreases in death rates are observed for diarrheal diseases, gastritis and duodenitis, and peptic ulcer disease. Positive trends are observed for liver cancer, pancreatic cancer, and gall bladder cancer. Diarrheal diseases have retained their 1st rank among children under 5. Among adults, decreased ranks are observed for diarrheal diseases, appendicitis, gastritis and duodenitis, gall bladder diseases, pancreatitis, and all types of cirrhosis. The trends in age standardized rates of DALYs, deaths, and YLLs are negative for almost all GILD, and especially for diarrheal diseases. However, there is no upward or downward trend in rates of years lost due to disability (YLDs) for most diseases. Total numbers of DALYs and deaths due to acute hepatitis C, stomach cancer, and liver cancers are rising. The total DALYs due to overall digestive diseases except cirrhosis and DALYs due to cirrhosis are both somehow stable. No data has been reported for GILD that are mainly diagnosed in outpatient settings, including gastroesophageal reflux disease, irritable bowel syndrome, and non-alcoholic fatty liver disease. CONCLUSION The results of GBD 2010 demonstrate that the rates of most GILD are decreasing in Iran but total DALYs are somehow stable

  16. Estimating disease prevalence in two-phase studies.

    PubMed

    Alonzo, Todd A; Pepe, Margaret Sullivan; Lumley, Thomas

    2003-04-01

    Disease prevalence is ideally estimated using a 'gold standard' to ascertain true disease status on all subjects in a population of interest. In practice, however, the gold standard may be too costly or invasive to be applied to all subjects, in which case a two-phase design is often employed. Phase 1 data consisting of inexpensive and non-invasive screening tests on all study subjects are used to determine the subjects that receive the gold standard in the second phase. Naive estimates of prevalence in two-phase studies can be biased (verification bias). Imputation and re-weighting estimators are often used to avoid this bias. We contrast the forms and attributes of the various prevalence estimators. Distribution theory and simulation studies are used to investigate their bias and efficiency. We conclude that the semiparametric efficient approach is the preferred method for prevalence estimation in two-phase studies. It is more robust and comparable in its efficiency to imputation and other re-weighting estimators. It is also easy to implement. We use this approach to examine the prevalence of depression in adolescents with data from the Great Smoky Mountain Study.

  17. Immunoproteomics of Aspergillus for the development of biomarkers and immunotherapies.

    PubMed

    Kniemeyer, Olaf; Ebel, Frank; Krüger, Thomas; Bacher, Petra; Scheffold, Alexander; Luo, Ting; Strassburger, Maria; Brakhage, Axel A

    2016-10-01

    Filamentous fungi of the genus Aspergillus play significant roles as pathogens causing superficial and invasive infections as well as allergic reactions in humans. Particularly invasive mycoses caused by Aspergillus species are characterized by high mortality rates due to difficult diagnosis and insufficient antifungal therapy. The application of immunoproteomic approaches has a great potential to identify new targets for the diagnosis, therapy, and vaccine development of diseases caused by Aspergillus species. Serological proteome analyses (SERPA) that combine 2D electrophoresis with Western blotting are still one of the most popular techniques for the identification of antigenic proteins. However, recently a growing number of approaches have been developed to identify proteins, which either provoke an antibody response or which represent targets of T-cell immunity in patients with allergy or fungal infections. Here, we review advances in the studies of immune responses against pathogenic Aspergilli as well as the current status of diagnosis and immunotherapy of Aspergillus infections. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  18. Detection of antibodies against Paracoccidioides brasiliensis melanin in in vitro and in vivo studies during infection.

    PubMed

    Urán, Martha E; Nosanchuk, Joshua D; Restrepo, Angela; Hamilton, Andrew J; Gómez, Beatriz L; Cano, Luz E

    2011-10-01

    Several cell wall constituents, including melanins or melanin-like compounds, have been implicated in the pathogenesis of a wide variety of microbial diseases caused by diverse species of pathogenic bacteria, fungi, and helminthes. Among these microorganisms, the dimorphic fungal pathogen Paracoccidioides brasiliensis produces melanin in its conidial and yeast forms. In the present study, melanin particles from P. brasiliensis were injected into BALB/c mice in order to produce monoclonal antibodies (MAbs). We identified five immunoglobulin G1 (IgG1) κ-chain and four IgM melanin-binding MAbs. The five IgG1 κ-chain isotypes are the first melanin-binding IgG MAbs ever reported. The nine MAbs labeled P. brasiliensis conidia and yeast cells both in vitro and in pulmonary tissues. The MAbs cross-reacted with melanin-like purified particles from other fungi and also with commercial melanins, such as synthetic and Sepia officinalis melanin. Melanization during paracoccidioidomycosis (PCM) was also further supported by the detection of IgG antibodies reactive to melanin from P. brasiliensis conidia and yeast in sera and bronchoalveolar lavage fluids from P. brasiliensis-infected mice, as well as in sera from human patients with PCM. Serum specimens from patients with other mycoses were also tested for melanin-binding antibodies by enzyme-linked immunosorbent assay, and cross-reactivities were detected for melanin particles from different fungal sources. These results suggest that melanin from P. brasiliensis is an immunologically active fungal structure that activates a strong IgG humoral response in humans and mice.

  19. Comparative assessment of the prevalence of periodontal disease in subjects with and without systemic autoimmune diseases: A case-control study.

    PubMed

    Ramesh Kumar, S G; Aswath Narayanan, M B; Jayanthi, D

    2016-01-01

    Immune mechanism shares a common pathway both for systemic autoimmune diseases and periodontal diseases. Scientific exploration of literature revealed limited studies on the association between systemic autoimmune diseases and periodontal diseases in India. The aim of the study is to find whether the presence of systemic autoimmune diseases in an individual is a risk factor for the development of periodontal disease. This was a hospital-based case-control study. A sample of 253 patients with systemic autoimmune diseases, attending the Rheumatology Department of Government General Hospital, Chennai-3, and 262 patients without systemic autoimmune diseases, attending the outpatient department of the Tamil Nadu Government Dental College and Hospital, Chennai-3, constituted the case and control groups, respectively. Age, gender, and oral hygiene status matching was done. Oral hygiene status was assessed using oral hygiene index (OHI) and periodontal status was assessed using community periodontal index (CPI) and loss of attachment (LOA) index. Statistical analysis was done using SPSS version 15 (SPSS Inc, 2006, Chicago). Results showed 99.2% and 73.9% prevalence of gingivitis and periodontitis, respectively, in the case group as compared to 85.5% and 14.9%, respectively, in the control group. There is no linear relationship between OHI scores and prevalence of periodontitis (CPI and LOA scores) in the case group. Patients suffering from systemic autoimmune diseases showed more prevalence of periodontal diseases irrespective of oral hygiene scores. It is postulated that the presence of systemic autoimmune diseases may pose a risk for the development of periodontal diseases.

  20. Aging and Alzheimer's Disease: Lessons from the Nun Study.

    ERIC Educational Resources Information Center

    Snowdon, David A.

    1997-01-01

    Describes a woman who maintained high cognitive test scores until her death at 101 years of age despite anatomical evidence of Alzheimer's disease. The woman was part of a larger "Nun Study" in which 678 sisters donated their brains to teach others about the etiology of aging and Alzheimer's disease. Findings are discussed. (RJM)

  1. [The importance of heart disease in the various types of cerebral vascular disease. A prospective study].

    PubMed

    Soares Franco, A; Monteiro, J; Ferreira, D; Fonseca, T P; Melo, T P; Ferro, J; Freitas, A; Nogueira, J M; Mota, E; da Costa, J N

    1990-05-01

    A prospective study was performed in 106 patients with acute stroke. The main purpose was the cardiac evaluation in the different types of cerebrovascular disease: Intracerebral hemorrhage (H), Cortical ischaemic events (C) and Subcortical ischaemic events (SC) and also to evaluate the interest of echocardiography in detecting occult cardiac sources of emboli. The study population included 54 men and 52 women with a mean age of 66.8 +/- 10.3 years. A thorough neurologic and cardiologic study with a computed tomography of the brain (TAC) and an echocardiogram (ECO) were performed in all patients. It was found 24 (23%) of H, 40 (38%) of C and 32 (30%) of SC. In the past history, heart diseases were more prevalent in C (p less than 0.04); previous stroke and systemic hypertension (HTA) were less prevalent in H (p less than 0.008) and in C (p less than 0.004), respectively. Atrial fibrillation (FA) was more frequent in ischaemic stroke (p less than 0.02) and within these in C (p less than 0.005). No more clinical and functional cardiac features or echocardiographic aspects had any difference in their prevalence in different types of stroke. Without clinical heart disease there were 19 (18%) cases but only in 10 were found in their echocardiograms a potentially embolic heart disease (PEHD) but 8 of them had questionable pathologic significance. C had more heart disease in their past history; FA is more frequent in C; it is difficult to diagnose a cerebral embolism with only a coexistent C and CPE, but if there is FA or a past history of heart disease in a C, the diagnosis of cerebral embolism is more probable; finally, echocardiography is of limited value to diagnose a PEHD in the elderly, however it makes possible to better evaluate most cardiac situations.

  2. [Study on expression styles of meridian diseases in the Internal Classic].

    PubMed

    Jia-Jie; Zhao, Jing-sheng

    2007-01-01

    To probe expression styles of meridian diseases in the Internal Classic. Expression styles for meridian diseases in the Internal Classic were divided by using literature study methods. Expression styles of meridian diseases in the Internal Classic include the 4 types, i. e. twelve meridians, the six channels on the foot, indications of acupoints, and diseases of zang and fu organs. The recognition of later generations on the meridians diseases in the Lingshu Chanels has a certain history limitation.

  3. Leptospira Exposure and Patients with Liver Diseases: A Case-Control Seroprevalence Study

    PubMed Central

    Alvarado-Esquivel, Cosme; Sánchez-Anguiano, Luis Francisco; Hernández-Tinoco, Jesús; Ramos-Nevárez, Agar; Margarita Cerrillo-Soto, Sandra; Alberto Guido-Arreola, Carlos

    2016-01-01

    The seroepidemiology of Leptospira infection in patients suffering from liver disease has been poorly studied. Information about risk factors associated with infection in liver disease patients may help in the optimal planning of preventive measures. We sought to determine the association of Leptospira IgG seroprevalence and patients with liver diseases, and to determine the characteristics of the patients with Leptospira exposure. We performed a case-control study of 75 patients suffering from liver diseases and 150 age- and gender-matched control subjects. Diagnoses of liver disease included liver cirrhosis, steatosis, chronic hepatitis, acute hepatitis, and amoebic liver abscess. Sera of participants were analyzed for the presence of anti- Leptospira IgG antibodies using a commercially available enzyme immunoassay. Anti-Leptospira IgG antibodies were found in 17 (22.7%) of 75 patients and in 15 (10.0%) of 150 control subjects (OR = 2.32; 95% CI: 1.09-4.94; P=0.03). This is the first age- and gender-matched case control study about Leptospira seroprevalence in patients with liver diseases. Results indicate that Leptospira infection is associated with chronic and acute liver diseases. Results warrants for additional studies on the role of Leptospira exposure in chronic liver disease. PMID:27493589

  4. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

    PubMed Central

    2012-01-01

    Background Due partly to physicians’ unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement of the individual muscle groups. Furthermore, we defined the natural disease course and identified prognostic factors for disease progression. Methods We conducted a single-center, prospective, observational study. Muscle strength (manual muscle testing, and hand-held dynamometry), muscle function (quick motor function test), and pulmonary function (forced vital capacity in sitting and supine positions) were assessed every 3–6 months and analyzed using repeated-measures ANOVA. Results Between October 2004 and August 2009, 94 patients aged between 25 and 75 years were included in the study. Although skeletal muscle weakness was typically distributed in a limb-girdle pattern, many patients had unfamiliar features such as ptosis (23%), bulbar weakness (28%), and scapular winging (33%). During follow-up (average 1.6 years, range 0.5-4.2 years), skeletal muscle strength deteriorated significantly (mean declines of −1.3% point/year for manual muscle testing and of −2.6% points/year for hand-held dynamometry; both p<0.001). Longer disease duration (>15 years) and pulmonary involvement (forced vital capacity in sitting position <80%) at study entry predicted faster decline. On average, forced vital capacity in supine position deteriorated by 1.3% points per year (p=0.02). Decline in pulmonary function was consistent across subgroups. Ten percent of patients declined unexpectedly fast. Conclusions Recognizing patterns of common and less familiar characteristics in adults with Pompe disease facilitates timely diagnosis. Longer disease duration and reduced pulmonary function

  5. White piedra, black piedra, tinea versicolor, and tinea nigra: contribution to the diagnosis of superficial mycosis*

    PubMed Central

    Veasey, John Verrinder; de Avila, Ricardo Bertozzi; Miguel, Barbara Arruda Fraletti; Muramatu, Laura Hitomi

    2017-01-01

    Superficial mycoses are fungal infections restricted to the stratum corneum and to the hair shafts, with no penetration in the epidermis; they are: white piedra, black piedra, tinea versicolor, and tinea nigra. This study presents images of mycological tests performed in the laboratory, as well as exams performed at the authors office, in order to improve the dermatologist's knowledge about the diagnosis of these dermatoses, which are common in many countries. PMID:29186263

  6. ESCMID and ECMM joint guidelines on diagnosis and management of hyalohyphomycosis: Fusarium spp., Scedosporium spp. and others.

    PubMed

    Tortorano, A M; Richardson, M; Roilides, E; van Diepeningen, A; Caira, M; Munoz, P; Johnson, E; Meletiadis, J; Pana, Z-D; Lackner, M; Verweij, P; Freiberger, T; Cornely, O A; Arikan-Akdagli, S; Dannaoui, E; Groll, A H; Lagrou, K; Chakrabarti, A; Lanternier, F; Pagano, L; Skiada, A; Akova, M; Arendrup, M C; Boekhout, T; Chowdhary, A; Cuenca-Estrella, M; Guinea, J; Guarro, J; de Hoog, S; Hope, W; Kathuria, S; Lortholary, O; Meis, J F; Ullmann, A J; Petrikkos, G; Lass-Flörl, C

    2014-04-01

    Mycoses summarized in the hyalohyphomycosis group are heterogeneous, defined by the presence of hyaline (non-dematiaceous) hyphae. The number of organisms implicated in hyalohyphomycosis is increasing and the most clinically important species belong to the genera Fusarium, Scedosporium, Acremonium, Scopulariopsis, Purpureocillium and Paecilomyces. Severely immunocompromised patients are particularly vulnerable to infection, and clinical manifestations range from colonization to chronic localized lesions to acute invasive and/or disseminated diseases. Diagnosis usually requires isolation and identification of the infecting pathogen. A poor prognosis is associated with fusariosis and early therapy of localized disease is important to prevent progression to a more aggressive or disseminated infection. Therapy should include voriconazole and surgical debridement where possible or posaconazole as salvage treatment. Voriconazole represents the first-line treatment of infections due to members of the genus Scedosporium. For Acremonium spp., Scopulariopsis spp., Purpureocillium spp. and Paecilomyces spp. the optimal antifungal treatment has not been established. Management usually consists of surgery and antifungal treatment, depending on the clinical presentation. © 2014 The Authors Clinical Microbiology and Infection © 2014 European Society of Clinical Microbiology and Infectious Diseases.

  7. Methodological considerations, such as directed acyclic graphs, for studying "acute on chronic" disease epidemiology: chronic obstructive pulmonary disease example.

    PubMed

    Tsai, Chu-Lin; Camargo, Carlos A

    2009-09-01

    Acute exacerbations of chronic disease are ubiquitous in clinical medicine, and thus far, there has been a paucity of integrated methodological discussion on this phenomenon. We use acute exacerbations of chronic obstructive pulmonary disease as an example to emphasize key epidemiological and statistical issues for this understudied field in clinical epidemiology. Directed acyclic graphs are a useful epidemiological tool to explain the differential effects of risk factor on health outcomes in studies of acute and chronic phases of disease. To study the pathogenesis of acute exacerbations of chronic disease, case-crossover design and time-series analysis are well-suited study designs to differentiate acute and chronic effect. Modeling changes over time and setting appropriate thresholds are important steps to separate acute from chronic phases of disease in serial measurements. In statistical analysis, acute exacerbations are recurrent events, and some individuals are more prone to recurrences than others. Therefore, appropriate statistical modeling should take into account intraindividual dependence. Finally, we recommend the use of "event-based" number needed to treat (NNT) to prevent a single exacerbation instead of traditional patient-based NNT. Addressing these methodological challenges will advance research quality in acute on chronic disease epidemiology.

  8. Prevalence of cardiovascular diseases among older adults. The Cardiovascular Health Study.

    PubMed

    Mittelmark, M B; Psaty, B M; Rautaharju, P M; Fried, L P; Borhani, N O; Tracy, R P; Gardin, J M; O'Leary, D H

    1993-02-01

    The Cardiovascular Health Study is a population-based longitudinal study of 5,201 adults aged 65 years and older. Prevalences of myocardial infarction, angina pectoris, congestive heart failure, peripheral artery disease, stroke, and transient ischemic attack were ascertained between June 1989 and May 1990 in participants recruited from Forsyth County, North Carolina; Washington County, Maryland; Sacramento County, California; and Pittsburgh, Pennsylvania. A medical history was taken to obtain self-reports of prevalent disease. For all participants, use of nitrates was ascertained to document angina, electrocardiograms were used to document prevalent myocardial infarction, and ankle-arm blood pressure studies were used to document peripheral artery disease. Self-reports of disease that were not confirmed by examination findings were further investigated by examination of medical records. Reported disease that was confirmed by examination findings or by medical records was classified as "definite." Disease that was documented by examination, but not reported by the participant, was classified as "unreported." The prevalence rates of definite myocardial infarction and angina were 11% and 15%, respectively, among men aged 65-69 years, 18% and 17% among men aged 80-84 years, 4% and 8% among women aged 65-69 years, and 3% and 13% among women aged 80-84 years. Twenty-three percent of men and 38% of women with electrocardiographic evidence of myocardial infarction did not report it. These results suggest that prevalent disease estimates based only on self-report may underestimate the prevalence of cardiovascular diseases in older Americans.

  9. The association between periodontal disease and chronic obstructive pulmonary disease: a case control study.

    PubMed

    Öztekin, Görkem; Baser, Ulku; Kucukcoskun, Meric; Tanrikulu-Kucuk, Sevda; Ademoglu, Evin; Isik, Gulden; Ozkan, Gulcihan; Yalcin, Funda; Kiyan, Esen

    2014-08-01

    Although there are studies evaluating the effects of periodontal health on chronic obstructive pulmonary disease (COPD), the effects of COPD - a systemic disease, on periodontal tissue is unknown. The aim of this study is to evaluate the effects of COPD on periodontal tissues by comparing COPD patients and controls. Fifty-two COPD patients and 38 non-COPD controls were included in this case-control study. Number of teeth, plaque index (PI), gingival index (GI), bleeding on probing, clinical attachment level and probing depth were included in the periodontal examination. In addition to clinical evaluations, gingival crevicular fluid (GCF) levels of high-sensitive C-reactive protein (hs-CRP), interleukin-1 beta (IL-lb) and prostaglandin-E2 (PGE2), and serum hs-CRP levels were measured in COPD patients and the controls. The number of teeth was significantly lower while PI and GI were significantly higher in COPD patients when compared to the controls. As well as serum hs-CRP levels, the GCF levels of hs-CRP, IL-1b and PGE2 were significantly higher in COPD patients than the controls. Our results demonstrated that COPD may be associated with periodontal disease as manifested by lower number of teeth and higher levels of inflammatory mediators especially CRP in GCF. This finding may be a reflection of systemic effects of COPD on periodontal tissues. Poor oral health behavior of COPD patients have to be considered in larger size group studies in the future.

  10. Study on application of optical clearing technique in skin diseases

    NASA Astrophysics Data System (ADS)

    Shan, Hao; Liang, Yanmei; Wang, Jingyi; Li, Yan

    2012-11-01

    So far, the study of the optical clearing is almost always about healthy tissue. However, the ultimate goal is to detect diseases for clinical application. Optical clearing on diseased skins is explored. The effect is evaluated by applying a combined liquid paraffin and glycerol mixed solution on several kinds of diseased skins in vitro. Scanning experiments from optical coherence tomography show that it has different effects among fibroma, pigmented nevus, and seborrheic keratosis. Based on the results, we conclude that different skin diseases have different compositions and structures, and their optical parameters and biological characteristics should be different, which implies that the optical clearing technique may have selectivity and may not be suitable for all kinds of skin diseases.

  11. Detection of Antibodies against Paracoccidioides brasiliensis Melanin in In Vitro and In Vivo Studies during Infection ▿

    PubMed Central

    Urán, Martha E.; Nosanchuk, Joshua D.; Restrepo, Angela; Hamilton, Andrew J.; Gómez, Beatriz L.; Cano, Luz E.

    2011-01-01

    Several cell wall constituents, including melanins or melanin-like compounds, have been implicated in the pathogenesis of a wide variety of microbial diseases caused by diverse species of pathogenic bacteria, fungi, and helminthes. Among these microorganisms, the dimorphic fungal pathogen Paracoccidioides brasiliensis produces melanin in its conidial and yeast forms. In the present study, melanin particles from P. brasiliensis were injected into BALB/c mice in order to produce monoclonal antibodies (MAbs). We identified five immunoglobulin G1 (IgG1) κ-chain and four IgM melanin-binding MAbs. The five IgG1 κ-chain isotypes are the first melanin-binding IgG MAbs ever reported. The nine MAbs labeled P. brasiliensis conidia and yeast cells both in vitro and in pulmonary tissues. The MAbs cross-reacted with melanin-like purified particles from other fungi and also with commercial melanins, such as synthetic and Sepia officinalis melanin. Melanization during paracoccidioidomycosis (PCM) was also further supported by the detection of IgG antibodies reactive to melanin from P. brasiliensis conidia and yeast in sera and bronchoalveolar lavage fluids from P. brasiliensis-infected mice, as well as in sera from human patients with PCM. Serum specimens from patients with other mycoses were also tested for melanin-binding antibodies by enzyme-linked immunosorbent assay, and cross-reactivities were detected for melanin particles from different fungal sources. These results suggest that melanin from P. brasiliensis is an immunologically active fungal structure that activates a strong IgG humoral response in humans and mice. PMID:21813659

  12. Analysis of recent failures of disease modifying therapies in Alzheimer's disease suggesting a new methodology for future studies.

    PubMed

    Amanatkar, Hamid Reza; Papagiannopoulos, Bill; Grossberg, George Thomas

    2017-01-01

    Pharmaceutical companies and the NIH have invested heavily in a variety of potential disease-modifying therapies for Alzheimer's disease (AD) but unfortunately all double-blind placebo-controlled Phase III studies of these drugs have failed to show statistically significant results supporting their clinical efficacy on cognitive measures. These negative results are surprising as most of these medications have the capability to impact the biomarkers which are associated with progression of Alzheimer's disease. Areas covered: This contradiction prompted us to review all study phases of Intravenous Immunoglobulin (IVIG), Bapineuzumab, Solanezumab, Avagacestat and Dimebolin to shed more light on these recent failures. We critically analyzed these studies, recommending seven lessons from these failures which should not be overlooked. Expert commentary: We suggest a new methodology for future treatment research in Alzheimer's disease considering early intervention with more focus on cognitive decline as a screening tool, more sophisticated exclusion criteria with more reliance on biomarkers, stratification of subjects based on the rate of cognitive decline aiming less heterogeneity, and a longer study duration with periodic assessment of cognition and activities of daily living during the study and also after a washout period.

  13. Low incidence but poor prognosis of complicated coeliac disease: a retrospective multicentre study.

    PubMed

    Biagi, Federico; Gobbi, Paolo; Marchese, Alessandra; Borsotti, Edoardo; Zingone, Fabiana; Ciacci, Carolina; Volta, Umberto; Caio, Giacomo; Carroccio, Antonio; Ambrosiano, Giuseppe; Mansueto, Pasquale; Corazza, Gino R

    2014-03-01

    Coeliac disease is a chronic enteropathy characterized by an increased mortality caused by its complications, mainly refractory coeliac disease, small bowel carcinoma and abdominal lymphoma. Aim of the study was to study the epidemiology of complications in patients with coeliac disease. Retrospective multicenter case-control study based on collection of clinical and laboratory data. The incidence of complicated coeliac disease was studied among coeliac patients directly diagnosed in four Italian centres. Patients referred to these centres after a diagnosis of coeliac disease and/or complicated coeliac disease in other hospitals were therefore excluded. Between 1/1999 and 10/2011, 1840 adult coeliac patients were followed up for 7364.3 person-years. Fourteen developed complications. Since five patients died, at the end of the observation period (10/2011), the prevalence of complicated coeliac disease was 9/1835 (1/204, 0.49%, 95% CI 0.2-0.9%). The annual incidence of complicated coeliac disease in the study period was 14/7364 (0.2%, 95% CI 0.1-0.31%). Although complications tend to occur soon after the diagnosis of coeliac disease, Kaplan-Meier curve analysis showed that they can actually occur at any time after the diagnosis of coeliac disease. Complications of coeliac disease in our cohort were quite rare, though characterised by a very high mortality. Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  14. [Immune-mediated inflammatory diseases in patients with inflammatory bowel disease. Baseline data from the Aquiles study].

    PubMed

    Marín-Jiménez, Ignacio; García Sánchez, Valle; Gisbert, Javier P; Lázaro Pérez Calle, José; Luján, Marisol; Gordillo Ábalos, Jordi; Tabernero, Susana; Juliá, Berta; Romero, Cristina; Cea-Calvo, Luis; García-Vicuña, Rosario; Vanaclocha, Francisco

    2014-11-01

    To determine the prevalence of immune-mediated inflammatory diseases (IMID) in a cohort of patients with inflammatory bowel disease (IBD) enrolled in hospital gastroenterology outpatients units for the AQUILES study, a prospective 2-year follow-up study. We included patients ≥18 years old with a prior or new diagnosis of IBD (Crohn disease [CD], ulcerative colitis [UC] or indeterminate colitis). Diagnoses were collected in a cross-sectional manner from the clinical records at enrollment of a new patient in the study. We included 526 patients (mean age 40.2 years; 47.3% men, 52.7% women), 300 with CD (57.0%), 218 with UC (41.4%) and 8 with indeterminate colitis. Other types of IMID were present in 71 patients (prevalence: 13.5%, 95% CI: 10.8-16.7): 47 were spondyloarthropathies (prevalence: 8.9%); 18 psoriasis (3.4%); 5 pyoderma gangrenosum (1.0%), and 11 uveitis (2.1%). The prevalence of IMID was higher in patients with CD than in those with UC (17.0% [95% CI: 13.2-21.7] vs 9.2% [95% CI: 6.0-13.8], p=0.011). In the multivariate analysis, the variables associated with the presence of IMID were diagnosis of CD (OR=1.8 [95% CI: 1.1-3.2]) and duration of IBD ≥4 years (OR=2.1 [95% CI: 1.1-4.1] in those with disease duration 4-8 years, and OR=2.1 [95% CI: 1.2-3.9] in those with ≥8 years vs. <4 years). In the cohort of patients with IBD in the AQUILES study, 13.5% had another IMID, with a higher prevalence in patients with CD and>4 years since disease onset. Copyright © 2013 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  15. Mortality due to noncommunicable diseases in Brazil, 1990 to 2015, according to estimates from the Global Burden of Disease study.

    PubMed

    Malta, Deborah Carvalho; França, Elisabeth; Abreu, Daisy Maria Xavier; Perillo, Rosângela Durso; Salmen, Maíra Coube; Teixeira, Renato Azeredo; Passos, Valeria; Souza, Maria de Fátima Marinho; Mooney, Meghan; Naghavi, Mohsen

    2017-01-01

    Noncommunicable diseases (NCDs) are the leading health problem globally and generate high numbers of premature deaths and loss of quality of life. The aim here was to describe the major groups of causes of death due to NCDs and the ranking of the leading causes of premature death between 1990 and 2015, according to the Global Burden of Disease (GBD) 2015 study estimates for Brazil. Cross-sectional study covering Brazil and its 27 federal states. This was a descriptive study on rates of mortality due to NCDs, with corrections for garbage codes and underreporting of deaths. This study shows the epidemiological transition in Brazil between 1990 and 2015, with increasing proportional mortality due to NCDs, followed by violence, and decreasing mortality due to communicable, maternal and neonatal causes within the global burden of diseases. NCDs had the highest mortality rates over the whole period, but with reductions in cardiovascular diseases, chronic respiratory diseases and cancer. Diabetes increased over this period. NCDs were the leading causes of premature death (30 to 69 years): ischemic heart diseases and cerebrovascular diseases, followed by interpersonal violence, traffic injuries and HIV/AIDS. The decline in mortality due to NCDs confirms that improvements in disease control have been achieved in Brazil. Nonetheless, the high mortality due to violence is a warning sign. Through maintaining the current decline in NCDs, Brazil should meet the target of 25% reduction proposed by the World Health Organization by 2025.

  16. Analysis of cohort studies with multivariate and partially observed disease classification data.

    PubMed

    Chatterjee, Nilanjan; Sinha, Samiran; Diver, W Ryan; Feigelson, Heather Spencer

    2010-09-01

    Complex diseases like cancers can often be classified into subtypes using various pathological and molecular traits of the disease. In this article, we develop methods for analysis of disease incidence in cohort studies incorporating data on multiple disease traits using a two-stage semiparametric Cox proportional hazards regression model that allows one to examine the heterogeneity in the effect of the covariates by the levels of the different disease traits. For inference in the presence of missing disease traits, we propose a generalization of an estimating equation approach for handling missing cause of failure in competing-risk data. We prove asymptotic unbiasedness of the estimating equation method under a general missing-at-random assumption and propose a novel influence-function-based sandwich variance estimator. The methods are illustrated using simulation studies and a real data application involving the Cancer Prevention Study II nutrition cohort.

  17. High-density lipoprotein cholesterol and cardiovascular disease. Four prospective American studies.

    PubMed

    Gordon, D J; Probstfield, J L; Garrison, R J; Neaton, J D; Castelli, W P; Knoke, J D; Jacobs, D R; Bangdiwala, S; Tyroler, H A

    1989-01-01

    The British Regional Heart Study (BRHS) reported in 1986 that much of the inverse relation of high-density lipoprotein cholesterol (HDLC) and incidence of coronary heart disease was eliminated by covariance adjustment. Using the proportional hazards model and adjusting for age, blood pressure, smoking, body mass index, and low-density lipoprotein cholesterol, we analyzed this relation separately in the Framingham Heart Study (FHS), Lipid Research Clinics Prevalence Mortality Follow-up Study (LRCF) and Coronary Primary Prevention Trial (CPPT), and Multiple Risk Factor Intervention Trial (MRFIT). In CPPT and MRFIT (both randomized trials in middle-age high-risk men), only the control groups were analyzed. A 1-mg/dl (0.026 mM) increment in HDLC was associated with a significant coronary heart disease risk decrement of 2% in men (FHS, CPPT, and MRFIT) and 3% in women (FHS). In LRCF, where only fatal outcomes were documented, a 1-mg/dl increment in HDLC was associated with significant 3.7% (men) and 4.7% (women) decrements in cardiovascular disease mortality rates. The 95% confidence intervals for these decrements in coronary heart and cardiovascular disease risk in the four studies overlapped considerably, and all contained the range 1.9-2.9%. HDLC levels were essentially unrelated to non-cardiovascular disease mortality. When differences in analytic methodology were eliminated, a consistent inverse relation of HDLC levels and coronary heart disease event rates was apparent in BRHS as well as in the four American studies.

  18. Imported acquired immunodeficiency syndrome-related histoplasmosis in metropolitan France: a comparison of pre-highly active anti-retroviral therapy and highly active anti-retroviral therapy eras.

    PubMed

    Peigne, Vincent; Dromer, Françoise; Elie, Caroline; Lidove, Olivier; Lortholary, Olivier

    2011-11-01

    Histoplasma capsulatum var. capsulatum infection is rare outside disease-endemic areas. Clinical presentation and outcome of acquired immunodeficiency syndrome-related histoplasmosis are unknown in non-endemic areas with wide access to highly active anti-retroviral therapy (HAART). Retrospective analysis of cases recorded at the French National Reference Center for Mycoses and Antifungals during two decades: pre-HAART (1985-1994) and HAART (1997-2006). Clinical features and outcome of all adults with proven acquired immunodeficiency syndrome-related histoplasmosis were compared between the two periods. One hundred four patients were included (40 during the pre-HAART era and 64 during the HAART era). Diagnosis was established a mean of 62 days after onset of symptoms. One-year overall mortality rates decreased from 53% (pre-HAART era) to 22% (HAART era). Diagnosis during the pre-HAART era and an older age were the only independent factors associated with death. Histoplasmosis is a rare invasive fungal infection outside disease-endemic areas. Its prognosis improved significantly during the HAART era.

  19. The first large population based twin study of coeliac disease

    PubMed Central

    Greco, L; Romino, R; Coto, I; Di Cosmo, N; Percopo, S; Maglio, M; Paparo, F; Gasperi, V; Limongelli, M G; Cotichini, R; D'Agate, C; Tinto, N; Sacchetti, L; Tosi, R; Stazi, M A

    2002-01-01

    Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among twin pairs in a large population based study. Methods: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules. Results: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so far reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA haplotypes, and zygosity, showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1–134), independent of the DQ at risk genotype. Conclusion: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region. PMID:11950806

  20. The Fukuoka Kidney disease Registry (FKR) Study: design and methods.

    PubMed

    Tanaka, Shigeru; Ninomiya, Toshiharu; Fujisaki, Kiichiro; Yoshida, Hisako; Nagata, Masaharu; Masutani, Kosuke; Tokumoto, Masanori; Mitsuiki, Koji; Hirakata, Hideki; Fujimi, Satoru; Kiyohara, Yutaka; Kitazono, Takanari; Tsuruya, Kazuhiko

    2017-06-01

    Chronic kidney disease (CKD) is an established independent risk factor for progression to end-stage renal disease (ESRD) and incidence of cardiovascular disease (CVD). The onset and progression of CKD are associated with both genetic predisposition and various lifestyle-related factors, but little is known about the influence of genetic-environmental interactions on the incidence of ESRD or CVD in patients with CKD. The Fukuoka Kidney disease Registry (FKR) Study is designed as one of the largest prospective, multicenter, observational cohort studies in non-dialysis dependent CKD patients. The FKR Study aims to enroll approximately 5000 individuals at multiple clinical centers and follow them for up to at least 5 years. At baseline, subjects enrolled in the FKR Study will fill out extensive lifestyle-related questionnaires. Further, their health status and treatments will be monitored annually through a research network of nephrology centers. Blood and urine samples, including DNA/RNA, will be collected at the time of enrolment and every 5-years follow-up. The FKR Study will provide many insights into the onset and progression of CKD, which will suggest hypothesis-driven interventional clinical trials aimed at reducing the burden of CKD. The features of the FKR Study may also facilitate innovative research to identify and validate novel risk factors, including genetic susceptibility and biomarkers, using biomaterials by high-throughput omics technologies.

  1. Point of truth calibration for disease prioritisation-A case study of prioritisation of exotic diseases for the pig industry in Australia.

    PubMed

    Brookes, V J; Barry, S C; Hernández-Jover, M; Ward, M P

    2017-04-01

    The objective of this study was to trial point of truth calibration (POTCal) as a novel method for disease prioritisation. To illustrate the application of this method, we used a previously described case-study of prioritisation of exotic diseases for the pig industry in Australia. Disease scenarios were constructed from criteria which described potential impact and pig-producers were asked to score the importance of each scenario. POTCal was used to model participants' estimates of disease importance as a function of the criteria, to derive a predictive model to prioritise a range of exotic diseases. The best validation of producers' estimates was achieved using a model derived from all responses. The highest weighted criteria were attack rate, case fatality rate and market loss, and the highest priority diseases were the vesicular diseases followed by swine fevers and zoonotic encephalitides. Comparison of results with a previous study in which probabilistic inversion was used to prioritise diseases for the same group of producers highlighted differences between disease prioritisation methods. Overall, this study demonstrated that POTCal can be used for disease prioritisation. An advantage of POTCal is that valid models can be developed that reflect decision-makers' heuristics. Specifically, this evaluation of the use of POTCal in animal health illustrates how the judgements of participants can be incorporated into a decision-making process. Further research is needed to investigate the influence of scenarios presented to participants during POTCal evaluations, and the robustness of this approach applied to different disease issues (e.g. exotic versus endemic) and production types (e.g. intensive versus extensive). To our knowledge, this is the first report of the use of POTCal for disease prioritisation. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  2. [An overview of neurometabolic diseases in Tunisia. a 3-year prospective study].

    PubMed

    Kraoua, I; Benrhouma, H; Rouissi, A; Youssef-Turki, I Ben; Zouari, B; Kaabachi, N; Gouider-Khouja, N

    2009-01-01

    Neurometabolic diseases are a large group of genetic diseases. In our country, the diagnostic and therapeutic approach to theses diseases is rather difficult. The aim of our study was to determine the frequency of neurometabolic diseases in the hospital population, to describe the problems in diagnosing these conditions and difficulties encountered during patient care. Our goal was to propose guidelines for a practical diagnostic and therapeutic approach to neurometabolic disorders in our country. We have conducted a prospective study over a 3-year period including all patients diagnosed with "metabolic disease" and followed at the Child and Adolescent Neurology Department of the National Institute of Neurology of Tunis. One hundred and thirty-six patients were included (2.4% of our patients). Mean age was 7.3 +/- 5.1 years. Mean age at onset was 4.3 years. There was a high consanguinity rate. Respiratory chain defects were the most frequently suspected diseases (16.9%), followed by lysosomal diseases (8.8%). Chromatography, initially systematically prescribed, became targeted with a higher diagnostic efficacy. Metabolic diseases diagnosed as certain, represented 22% of the studied cases. This can be explained by the insufficiency of available laboratory tests of confirmation. The prescription of specific treatment was insufficient, even for confirmed pathologies (14.7%) because of the high cost of these therapies. The diagnostic approach has to be rational, targeted, multidisciplinar and conducted within a care network. Diagnostic priority should focus on treatable neurometabolic diseases. The establishment of a systematized registry and neonatal screening for the main treatable neurometabolic diseases constitute the final objective of our work to prepare for biochemical and genetic studies.

  3. Dry eye disease in French elderly subjects: the Alienor Study.

    PubMed

    Malet, Florence; Le Goff, Mélanie; Colin, Joseph; Schweitzer, Cédric; Delyfer, Marie-Noëlle; Korobelnik, Jean-François; Rougier, Marie-Bénédicte; Radeau, Thierry; Dartigues, Jean-François; Delcourt, Cécile

    2014-09-01

      To describe dry eye disease in French elderly subjects.   The Alienor Study is a population-based study on age-related eye disease in 963 residents of Bordeaux (France), aged 73 years or more. Self-reported dry eye disease and use of artificial tears were documented through face-to-face interview. Dry eye symptoms were assessed using the Ocular Surface Disease Index (OSDI) questionnaire and tear film stability by tear break-up time measurements (TBUT). Definite dry eye disease was defined as self-reported dry eye, confirmed by use of artificial tears and/or OSDI greater or equal to 22.   Nine hundred and fifteen subjects, with mean age of 80 ± 4 years, returned the OSDI questionnaire. Of these, 271 (29.6%) subjects reported a dry eye disease and 135 (14.7%) were using artificial tears. An OSDI score > 22 was found in 359 (39.2%) subjects and a TBUT < 5 seconds in 335/746 (44.9%) subjects. Overall, definite dry eye affected 21.9% of subjects and was more frequent in women (27.1%) than in men (13.6%). After multivariate adjustment, dry eye disease was also significantly less frequent in subjects with high educational level (odds ratio (OR) = 0.49, 95% confidence interval (CI): 0.31-0.78 for long secondary school) and more frequent in subjects with ocular hypertension (OR = 1.61, 95% CI: 1.02-2.57) and those using anxiolytics (OR = 1.53, 95% CI: 1.02-2.29).   This large observational study confirmed the high prevalence of dry eye symptoms among elderly subjects and confirmed some of the previously identified risk factors (in particular female gender and use of anxiolytics). © 2013 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  4. Neuropathology of dementia in Parkinson's disease: a prospective, community-based study.

    PubMed

    Aarsland, Dag; Perry, Robert; Brown, Andrew; Larsen, Jan P; Ballard, Clive

    2005-11-01

    Twenty-two patients with Parkinson's disease drawn from a community-based study were followed prospectively until their deaths. Even though 18 patients had dementia, none fulfilled Braak and Braak or The National Institute on Aging and Ronald and Nancy Reagan Institute of the Alzheimer's Association, whereas all patients had limbic or neocortical Lewy body disease. The Lewy body score and Braak and Braak stage were significantly associated with the rate of cognitive decline, but only the Lewy body score was associated with the rate of cognitive decline in the univariate analyses. This study strongly suggests that Lewy body disease is the main substrate driving the progression of cognitive impairment in Parkinson's disease.

  5. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    PubMed Central

    Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

  6. The immune reconstitution inflammatory syndrome in whipple disease: a cohort study.

    PubMed

    Feurle, Gerhard E; Moos, Verena; Schinnerling, Katina; Geelhaar, Anika; Allers, Kristina; Biagi, Federico; Bläker, Hendrik; Moter, Annette; Loddenkemper, Christoph; Jansen, Andreas; Schneider, Thomas

    2010-12-07

    Whipple disease, which is caused by infection with Tropheryma whipplei, can be treated effectively with antimicrobials. Occasionally, inflammation reappears after initial improvement; this is often interpreted as refractory or recurrent disease. However, polymerase chain reaction for T. whipplei in tissue is sometimes negative during reinflammation, indicating absence of vital bacteria, and this reinflammation does not respond to antimicrobials but does respond to steroids. To demonstrate that the immune reconstitution inflammatory syndrome (IRIS) occurs in patients treated for Whipple disease. Cohort study. (International Standard Randomised Controlled Trial Number Register registration number: ISRCTN45658456) 2 academic medical centers in Germany. 142 patients treated for Whipple disease out of a cohort of 187 were observed for reappearance of inflammatory signs after effective antibiotic therapy. Definitions of IRIS in HIV infection, tuberculosis, and leprosy were adapted for application to Whipple disease. On the basis of study definitions, IRIS was diagnosed in 15 of 142 patients. Symptoms included fever, arthritis, pleurisy, erythema nodosum, inflammatory orbitopathy, small-bowel perforation, and a hypothalamic syndrome. Two patients died. There was a positive correlation with previous immunosuppressive treatment and a negative correlation with previous diarrhea and weight loss. The study was observational and thus has inherent weaknesses, such as incomplete and potentially selective data recording. The immune reconstitution inflammatory syndrome was diagnosed in about 10% of patients with Whipple disease in the study cohort; the outcome varied from mild to fatal. Patients who had had previous immunosuppressive therapy were at particular risk. An immune reconstitution syndrome should be considered in patients with Whipple disease in whom inflammatory symptoms recur after effective treatment. Early diagnosis and treatment with steroids may be beneficial

  7. Evolutionary Meta-Analysis of Association Studies Reveals Ancient Constraints Affecting Disease Marker Discovery

    PubMed Central

    Dudley, Joel T.; Chen, Rong; Sanderford, Maxwell; Butte, Atul J.; Kumar, Sudhir

    2012-01-01

    Genome-wide disease association studies contrast genetic variation between disease cohorts and healthy populations to discover single nucleotide polymorphisms (SNPs) and other genetic markers revealing underlying genetic architectures of human diseases. Despite scores of efforts over the past decade, many reproducible genetic variants that explain substantial proportions of the heritable risk of common human diseases remain undiscovered. We have conducted a multispecies genomic analysis of 5,831 putative human risk variants for more than 230 disease phenotypes reported in 2,021 studies. We find that the current approaches show a propensity for discovering disease-associated SNPs (dSNPs) at conserved genomic positions because the effect size (odds ratio) and allelic P value of genetic association of an SNP relates strongly to the evolutionary conservation of their genomic position. We propose a new measure for ranking SNPs that integrates evolutionary conservation scores and the P value (E-rank). Using published data from a large case-control study, we demonstrate that E-rank method prioritizes SNPs with a greater likelihood of bona fide and reproducible genetic disease associations, many of which may explain greater proportions of genetic variance. Therefore, long-term evolutionary histories of genomic positions offer key practical utility in reassessing data from existing disease association studies, and in the design and analysis of future studies aimed at revealing the genetic basis of common human diseases. PMID:22389448

  8. Methodological considerations in cost of illness studies on Alzheimer disease

    PubMed Central

    2012-01-01

    Cost-of-illness studies (COI) can identify and measure all the costs of a particular disease, including the direct, indirect and intangible dimensions. They are intended to provide estimates about the economic impact of costly disease. Alzheimer disease (AD) is a relevant example to review cost of illness studies because of its costliness.The aim of this study was to review relevant published cost studies of AD to analyze the method used and to identify which dimension had to be improved from a methodological perspective. First, we described the key points of cost study methodology. Secondly, cost studies relating to AD were systematically reviewed, focussing on an analysis of the different methods used. The methodological choices of the studies were analysed using an analytical grid which contains the main methodological items of COI studies. Seventeen articles were retained. Depending on the studies, annual total costs per patient vary from $2,935 to $52, 954. The methods, data sources, and estimated cost categories in each study varied widely. The review showed that cost studies adopted different approaches to estimate costs of AD, reflecting a lack of consensus on the methodology of cost studies. To increase its credibility, closer agreement among researchers on the methodological principles of cost studies would be desirable. PMID:22963680

  9. Education and coronary heart disease: mendelian randomisation study.

    PubMed

    Tillmann, Taavi; Vaucher, Julien; Okbay, Aysu; Pikhart, Hynek; Peasey, Anne; Kubinova, Ruzena; Pajak, Andrzej; Tamosiunas, Abdonas; Malyutina, Sofia; Hartwig, Fernando Pires; Fischer, Krista; Veronesi, Giovanni; Palmer, Tom; Bowden, Jack; Davey Smith, George; Bobak, Martin; Holmes, Michael V

    2017-08-30

    Objective  To determine whether educational attainment is a causal risk factor in the development of coronary heart disease. Design  Mendelian randomisation study, using genetic data as proxies for education to minimise confounding. Setting  The main analysis used genetic data from two large consortia (CARDIoGRAMplusC4D and SSGAC), comprising 112 studies from predominantly high income countries. Findings from mendelian randomisation analyses were then compared against results from traditional observational studies (164 170 participants). Finally, genetic data from six additional consortia were analysed to investigate whether longer education can causally alter the common cardiovascular risk factors. Participants  The main analysis was of 543 733 men and women (from CARDIoGRAMplusC4D and SSGAC), predominantly of European origin. Exposure  A one standard deviation increase in the genetic predisposition towards higher education (3.6 years of additional schooling), measured by 162 genetic variants that have been previously associated with education. Main outcome measure  Combined fatal and non-fatal coronary heart disease (63 746 events in CARDIoGRAMplusC4D). Results  Genetic predisposition towards 3.6 years of additional education was associated with a one third lower risk of coronary heart disease (odds ratio 0.67, 95% confidence interval 0.59 to 0.77; P=3×10 -8 ). This was comparable to findings from traditional observational studies (prevalence odds ratio 0.73, 0.68 to 0.78; incidence odds ratio 0.80, 0.76 to 0.83). Sensitivity analyses were consistent with a causal interpretation in which major bias from genetic pleiotropy was unlikely, although this remains an untestable possibility. Genetic predisposition towards longer education was additionally associated with less smoking, lower body mass index, and a favourable blood lipid profile. Conclusions  This mendelian randomisation study found support for the hypothesis that low education is a causal risk

  10. Education and coronary heart disease: mendelian randomisation study

    PubMed Central

    Vaucher, Julien; Okbay, Aysu; Pikhart, Hynek; Peasey, Anne; Kubinova, Ruzena; Pajak, Andrzej; Tamosiunas, Abdonas; Malyutina, Sofia; Hartwig, Fernando Pires; Fischer, Krista; Veronesi, Giovanni; Palmer, Tom; Bowden, Jack; Davey Smith, George; Bobak, Martin; Holmes, Michael V

    2017-01-01

    Objective To determine whether educational attainment is a causal risk factor in the development of coronary heart disease. Design Mendelian randomisation study, using genetic data as proxies for education to minimise confounding. Setting The main analysis used genetic data from two large consortia (CARDIoGRAMplusC4D and SSGAC), comprising 112 studies from predominantly high income countries. Findings from mendelian randomisation analyses were then compared against results from traditional observational studies (164 170 participants). Finally, genetic data from six additional consortia were analysed to investigate whether longer education can causally alter the common cardiovascular risk factors. Participants The main analysis was of 543 733 men and women (from CARDIoGRAMplusC4D and SSGAC), predominantly of European origin. Exposure A one standard deviation increase in the genetic predisposition towards higher education (3.6 years of additional schooling), measured by 162 genetic variants that have been previously associated with education. Main outcome measure Combined fatal and non-fatal coronary heart disease (63 746 events in CARDIoGRAMplusC4D). Results Genetic predisposition towards 3.6 years of additional education was associated with a one third lower risk of coronary heart disease (odds ratio 0.67, 95% confidence interval 0.59 to 0.77; P=3×10−8). This was comparable to findings from traditional observational studies (prevalence odds ratio 0.73, 0.68 to 0.78; incidence odds ratio 0.80, 0.76 to 0.83). Sensitivity analyses were consistent with a causal interpretation in which major bias from genetic pleiotropy was unlikely, although this remains an untestable possibility. Genetic predisposition towards longer education was additionally associated with less smoking, lower body mass index, and a favourable blood lipid profile. Conclusions This mendelian randomisation study found support for the hypothesis that low education is a causal risk factor in

  11. The economic burden of musculoskeletal disease in Korea: A cross sectional study

    PubMed Central

    2011-01-01

    Background Musculoskeletal diseases are becoming increasingly important due to population aging. However, studies on the economic burden of musculoskeletal disease in Korea are scarce. Therefore, we conducted a population-based study to measure the economic burden of musculoskeletal disease in Korea using nationally representative data. Methods This study used a variety of data sources such as national health insurance statistics, the Korea Health Panel study and cause of death reports generated by the Korea National Statistical Office to estimate the economic burden of musculoskeletal disease. The total cost of musculoskeletal disease was estimated as the sum of direct medical care costs, direct non-medical care costs, and indirect costs. Direct medical care costs are composed of the costs paid by the insurer and patients, over the counter drugs costs, and other costs such as medical equipment costs. Direct non-medical costs are composed of transportation and caregiver costs. Indirect costs are the sum of the costs associated with premature death and the costs due to productivity loss. Age, sex, and disease specific costs were estimated. Results Among the musculoskeletal diseases, the highest costs are associated with other dorsopathies, followed by disc disorder and arthrosis. The direct medical and direct non-medical costs of all musculoskeletal diseases were $4.18 billion and $338 million in 2008, respectively. Among the indirect costs, those due to productivity loss were $2.28 billion and costs due to premature death were $79 million. The proportions of the total costs incurred by male and female patients were 33.8% and 66.2%, respectively, and the cost due to the female adult aged 20-64 years old was highest. The total economic cost of musculoskeletal disease was $6.89 billion, which represents 0.7% of the Korean gross domestic product. Conclusions The economic burden of musculoskeletal disease in Korea is substantial. As the Korean population continues to

  12. The economic burden of musculoskeletal disease in Korea: a cross sectional study.

    PubMed

    Oh, In-Hwan; Yoon, Seok-Jun; Seo, Hye-Young; Kim, Eun-Jung; Kim, Young Ae

    2011-07-13

    Musculoskeletal diseases are becoming increasingly important due to population aging. However, studies on the economic burden of musculoskeletal disease in Korea are scarce. Therefore, we conducted a population-based study to measure the economic burden of musculoskeletal disease in Korea using nationally representative data. This study used a variety of data sources such as national health insurance statistics, the Korea Health Panel study and cause of death reports generated by the Korea National Statistical Office to estimate the economic burden of musculoskeletal disease. The total cost of musculoskeletal disease was estimated as the sum of direct medical care costs, direct non-medical care costs, and indirect costs. Direct medical care costs are composed of the costs paid by the insurer and patients, over the counter drugs costs, and other costs such as medical equipment costs. Direct non-medical costs are composed of transportation and caregiver costs. Indirect costs are the sum of the costs associated with premature death and the costs due to productivity loss. Age, sex, and disease specific costs were estimated. Among the musculoskeletal diseases, the highest costs are associated with other dorsopathies, followed by disc disorder and arthrosis. The direct medical and direct non-medical costs of all musculoskeletal diseases were $4.18 billion and $338 million in 2008, respectively. Among the indirect costs, those due to productivity loss were $2.28 billion and costs due to premature death were $79 million. The proportions of the total costs incurred by male and female patients were 33.8% and 66.2%, respectively, and the cost due to the female adult aged 20-64 years old was highest. The total economic cost of musculoskeletal disease was $6.89 billion, which represents 0.7% of the Korean gross domestic product. The economic burden of musculoskeletal disease in Korea is substantial. As the Korean population continues to age, the economic burden of

  13. Osteoarticular Infections Caused by Non-Aspergillus Filamentous Fungi in Adult and Pediatric Patients

    PubMed Central

    Taj-Aldeen, Saad J.; Rammaert, Blandine; Gamaletsou, Maria; Sipsas, Nikolaos V.; Zeller, Valerie; Roilides, Emmanuel; Kontoyiannis, Dimitrios P.; Miller, Andy O.; Petraitis, Vidmantas; Walsh, Thomas J.; Lortholary, Olivier

    2015-01-01

    Abstract Osteoarticular mycoses due to non-Aspergillus moulds are uncommon and challenging infections. A systematic literature review of non-Aspergillus osteoarticular mycoses was performed using PUBMED and EMBASE databases from 1970 to 2013. Among 145 patients were 111 adults (median age 48.5 [16–92 y]) and 34 pediatric patients (median age 7.5 [3–15 y]); 114 (79.7%) were male and 88 (61.9%) were immunocompromised. Osteomyelitis was due to direct inoculation in 54.5%. Trauma and puncture wounds were more frequent in children (73.5% vs 43.5%; P = 0.001). Prior surgery was more frequent in adults (27.7% vs 5.9%; P = 0.025). Vertebral (23.2%) and craniofacial osteomyelitis (13.1%) with neurological deficits predominated in adults. Lower limb osteomyelitis (47.7%) and knee arthritis (67.8%) were predominantly seen in children. Hyalohyphomycosis represented 64.8% of documented infections with Scedosporium apiospermum (33.1%) and Lomentospora prolificans (15.8%) as the most common causes. Combined antifungal therapy and surgery was used in 69% of cases with overall response in 85.8%. Median duration of therapy was 115 days (range 5–730). When voriconazole was used as single agent for treatment of hyalohyphomycosis and phaeohyphomycosis, an overall response rate was achieved in 94.1% of cases. Non-Aspergillus osteoarticular mycoses occur most frequently in children after injury and in adults after surgery. Accurate early diagnosis and long-course therapy (median 6 mo) with a combined medical-surgical approach may result in favorable outcome. PMID:26683917

  14. An epidemiological study of immune-mediated skin diseases affecting the oral cavity.

    PubMed

    Carvalho, Cyntia Helena Pereira de; Santos, Bruna Rafaela Martins dos; Vieira, Camila de Castro; Lima, Emeline das Neves de Araújo; Santos, Pedro Paulo de Andrade; Freitas, Roseana de Almeida

    2011-01-01

    Immune-mediated skin diseases encompass a variety of pathologies that present in different forms in the body. The objective of this study was to establish the prevalence of the principal immune-mediated skin diseases affecting the oral cavity. A total of 10,292 histopathology reports stored in the archives of the Anatomical Pathology Laboratory, Department of Oral Pathology, Federal University of Rio Grande do Norte, covering the period from 1988 to 2009, were evaluated. For the cases diagnosed with some type of disease relevant to the study, clinical data such as the gender, age and ethnicity of the patient, the anatomical site of the disease and its symptomatology were collected. Of all the cases registered at the above-mentioned service, 82 (0.8%) corresponded to immune-mediated skin diseases with symptoms affecting the oral cavity. The diseases found in this study were: oral lichen planus, pemphigus vulgaris and benign mucous membrane pemphigoid. Oral lichen planus was the most common lesion, comprising 68.05% of the cases analyzed. Of these cases, 64.3% were women and the cheek mucosa was the anatomical site most commonly affected (46.8%). Immune-mediated skin diseases affecting the oral cavity continue to be rare, the prevalence found in this study being similar to that reported for the majority of regions worldwide. Nevertheless, early diagnosis is indispensable in the treatment of these diseases, bearing in mind that systemic involvement is possible in these patients.

  15. Chromoblastomycosis

    PubMed Central

    de Hoog, Sybren; Santos, Daniel Wagner C. L.; Salgado, Claudio Guedes; Vicente, Vania Aparecida; Bonifaz, Alexandro; Roilides, Emmanuel; Xi, Liyan; Azevedo, Conceição de Maria Pedrozo e Silva; da Silva, Moises Batista; Pana, Zoe Dorothea; Colombo, Arnaldo Lopes; Walsh, Thomas J.

    2016-01-01

    SUMMARY Chromoblastomycosis (CBM), also known as chromomycosis, is one of the most prevalent implantation fungal infections, being the most common of the gamut of mycoses caused by melanized or brown-pigmented fungi. CBM is mainly a tropical or subtropical disease that may affect individuals with certain risk factors around the world. The following characteristics are associated with this disease: (i) traumatic inoculation by implantation from an environmental source, leading to an initial cutaneous lesion at the inoculation site; (ii) chronic and progressive cutaneous and subcutaneous tissular involvement associated with fibrotic and granulomatous reactions associated with microabscesses and often with tissue proliferation; (iii) a nonprotective T helper type 2 (Th2) immune response with ineffective humoral involvement; and (iv) the presence of muriform (sclerotic) cells embedded in the affected tissue. CBM lesions are clinically polymorphic and are commonly misdiagnosed as various other infectious and noninfectious diseases. In its more severe clinical forms, CBM may cause an incapacity for labor due to fibrotic sequelae and also due to a series of clinical complications, and if not recognized at an early stage, this disease can be refractory to antifungal therapy. PMID:27856522

  16. Peripheral Arterial Disease study (PERART): prevalence and predictive values of asymptomatic peripheral arterial occlusive disease related to cardiovascular morbidity and mortality.

    PubMed

    Alzamora, María Teresa; Baena-Díez, José Miguel; Sorribes, Marta; Forés, Rosa; Toran, Pere; Vicheto, Marisa; Pera, Guillem; Reina, María Dolores; Albaladejo, Carlos; Llussà, Judith; Bundó, Magda; Sancho, Amparo; Heras, Antonio; Rubiés, Joan; Arenillas, Juan Francisco

    2007-12-11

    The early diagnosis of atherosclerotic disease is essential for developing preventive strategies in populations at high risk and acting when the disease is still asymptomatic. A low ankle-arm index (AAI) is a good marker of vascular events and may be diminished without presenting symptomatology (silent peripheral arterial disease). The aim of the PERART study (PERipheral ARTerial disease) is to determine the prevalence of peripheral arterial disease (both silent and symptomatic) in a general population of both sexes and determine its predictive value related to morbimortality (cohort study). This cross-over, cohort study consists of 2 phases: firstly a descriptive, transversal cross-over study to determine the prevalence of peripheral arterial disease, and secondly, a cohort study to evaluate the predictive value of AAI in relation to cardiovascular morbimortality. From September 2006 to June 2007, a total of 3,010 patients over the age of 50 years will be randomly selected from a population adscribed to 24 healthcare centres in the province of Barcelona (Spain). The diagnostic criteria of peripheral arterial disease will be considered as an AAI < 0.90, determined by portable Doppler (8 Mhz probe) measured twice by trained personnel. Cardiovascular risk will be calculated with the Framingham-Wilson tables, with Framingham calibrated by the REGICOR and SCORE groups. The subjects included will be evaluted every 6 months by telephone interview and the clnical history and death registries will be reviewed. The appearance of the following cardiovascular events will be considered as variables of response: transitory ischaemic accident, ictus, angina, myocardial infartction, symptomatic abdominal aneurysm and vascular mortality. In this study we hope to determine the prevalence of peripheral arterial disease, especially the silent forms, in the general population and establish its relationship with cardiovascular morbimortality. A low AAI may be a better marker of

  17. Peripheral Arterial Disease Study (PERART): Prevalence and predictive values of asymptomatic peripheral arterial occlusive disease related to cardiovascular morbidity and mortality

    PubMed Central

    Alzamora, María Teresa; Baena-Díez, José Miguel; Sorribes, Marta; Forés, Rosa; Toran, Pere; Vicheto, Marisa; Pera, Guillem; Reina, María Dolores; Albaladejo, Carlos; Llussà, Judith; Bundó, Magda; Sancho, Amparo; Heras, Antonio; Rubiés, Joan; Arenillas, Juan Francisco

    2007-01-01

    Background The early diagnosis of atherosclerotic disease is essential for developing preventive strategies in populations at high risk and acting when the disease is still asymptomatic. A low ankle-arm index (AAI) is a good marker of vascular events and may be diminished without presenting symptomatology (silent peripheral arterial disease). The aim of the PERART study (PERipheral ARTerial disease) is to determine the prevalence of peripheral arterial disease (both silent and symptomatic) in a general population of both sexes and determine its predictive value related to morbimortality (cohort study). Methods/Design This cross-over, cohort study consists of 2 phases: firstly a descriptive, transversal cross-over study to determine the prevalence of peripheral arterial disease, and secondly, a cohort study to evaluate the predictive value of AAI in relation to cardiovascular morbimortality. From September 2006 to June 2007, a total of 3,010 patients over the age of 50 years will be randomly selected from a population adscribed to 24 healthcare centres in the province of Barcelona (Spain). The diagnostic criteria of peripheral arterial disease will be considered as an AAI < 0.90, determined by portable Doppler (8 Mhz probe) measured twice by trained personnel. Cardiovascular risk will be calculated with the Framingham-Wilson tables, with Framingham calibrated by the REGICOR and SCORE groups. The subjects included will be evaluted every 6 months by telephone interview and the clnical history and death registries will be reviewed. The appearance of the following cardiovascular events will be considered as variables of response: transitory ischaemic accident, ictus, angina, myocardial infartction, symptomatic abdominal aneurysm and vascular mortality. Discussion In this study we hope to determine the prevalence of peripheral arterial disease, especially the silent forms, in the general population and establish its relationship with cardiovascular morbimortality. A low

  18. [Bibliographical study of Minamata disease].

    PubMed

    Ishihara, Nobuo

    2002-01-01

    In 1958, Minamata Disease was suggested to be organic mercury compounds intoxication. This suggestion was based on Hunter and Russel's report on occupational exposure to methylmercury. This report is known to have established the typical symptoms of methyl mercury intoxication. However, it has been widely believed since the official recognition of Minamata Disease (1956) that, at the moment of outbreak, no reports were available on organic mercury formation from inorganic mercury in acetaldehyde production from acetylene, or on organic mercury intoxication among workers in acetaldehyde production from acetylene. However, this was not the case. The formation of organic mercury from inorganic mercury used as a catalyst was reported by Vogt and Nieuwland in 1921. In 1930, Zangger reported several cases of organic mercury intoxication among workers in acetaldehyde production from acetylene. Soon after, Koelsch reported that the cases were methyl- and/or ethylmercury intoxication, and that such cases had been common since 1916. These reports were already available at the time of the Minamata Disease outbreak. However, Zangger's report, the most important of these three was not referred to until 1987, notwithstanding its listing in the references of Kurland et al.. Zangger's report was not referred to not by investigators, but by a lawyer. If these reports had been referred to at the outbreak of Minamata Disease, the number of victims in Minamata would have been minimized, and Minamata Disease in Niigata would have been prevented.

  19. Cardiovascular disease and risk of acute pancreatitis in a population-based study.

    PubMed

    Bexelius, Tomas Sjöberg; Ljung, Rickard; Mattsson, Fredrik; Lagergren, Jesper

    2013-08-01

    The low-grade inflammation that characterizes cardiovascular disorders may facilitate the development of pancreatitis; therefore, we investigated the connection between cardiovascular disorders and acute pancreatitis. A nested population-based case-control study was conducted in Sweden in 2006-2008. Cases had a first episode of acute pancreatitis diagnosed in the nationwide Patient Register. Controls were matched on age, sex, and calendar year and randomly selected from all Swedish residents (40-84 years old). Exposure to cardiovascular diseases (hypertension, ischemic heart disease, congestive heart failure, and stroke) was identified in the Patient Register. Relative risk of acute pancreatitis was estimated by odds ratios with 95% confidence intervals using logistic regression adjusting for confounders (matching variables, alcohol disease, chronic obstructive pulmonary disease, type 2 diabetes, number of distinct medications, and other cardiovascular diseases). The study included 6161 cases and 61,637 control subjects. Cardiovascular disorders were positively associated with acute pancreatitis (adjusted odds ratio, 1.35; 95% confidence interval, 1.25-1.45). This population-based study indicates an association between cardiovascular disease and acute pancreatitis. Specifically, ischemic heart disease and hypertension seem to increase the risk of acute pancreatitis. Further research is needed to determine causality.

  20. Neuroimaging Studies Illustrate the Commonalities Between Ageing and Brain Diseases.

    PubMed

    Cole, James H

    2018-07-01

    The lack of specificity in neuroimaging studies of neurological and psychiatric diseases suggests that these different diseases have more in common than is generally considered. Potentially, features that are secondary effects of different pathological processes may share common neurobiological underpinnings. Intriguingly, many of these mechanisms are also observed in studies of normal (i.e., non-pathological) brain ageing. Different brain diseases may be causing premature or accelerated ageing to the brain, an idea that is supported by a line of "brain ageing" research that combines neuroimaging data with machine learning analysis. In reviewing this field, I conclude that such observations could have important implications, suggesting that we should shift experimental paradigm: away from characterizing the average case-control brain differences resulting from a disease toward methods that place individuals in their age-appropriate context. This will also lead naturally to clinical applications, whereby neuroimaging can contribute to a personalized-medicine approach to improve brain health. © 2018 WILEY Periodicals, Inc.

  1. Association between Kawasaki Disease and Autism: A Population-Based Study in Taiwan

    PubMed Central

    Kuo, Ho-Chang; Wu, Chung-Min; Chang, Wei-Pin; Kuo, Chun-Nan; Yeter, Deniz; Lin, Chun-Yi; Pai, Jei-Tsung; Chi, Ying-Chen; Lin, Chia-Hsien; Wang, Liang-Jen; Chang, Wei-Chiao

    2014-01-01

    Objective: The association between Kawasaki disease and autism has rarely been studied in Asian populations. By using a nationwide Taiwanese population-based claims database, we tested the hypothesis that Kawasaki disease may increase the risk of autism in Taiwan. Materials and Methods: Our study cohort consisted of patients who had received the diagnosis of Kawasaki disease (ICD-9-CM: 446.1) between 1997 and 2005 (N = 563). For a comparison cohort, five age- and gender-matched control patients for every patient in the study cohort were selected using random sampling (N = 2,815). All subjects were tracked for 5 years from the date of cohort entry to identify whether they had developed autism (ICD-9-CM code 299.0) or not. Cox proportional hazard regressions were then performed to evaluate 5-year autism-free survival rates. Results: The main finding of this study was that patients with Kawasaki disease seem to not be at increased risk of developing autism. Of the total patients, four patients developed autism during the 5-year follow-up period, among whom two were Kawasaki disease patients and two were in the comparison cohort. Further, the adjusted hazard ratios (AHR) (AHR: 4.81; 95% confidence interval: 0.68–34.35; P = 0.117) did not show any statistical significance between the Kawasaki disease group and the control group during the 5-year follow-up. Conclusion: Our study indicated that patients with Kawasaki disease are not at increased risk of autism. PMID:24705358

  2. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

    PubMed Central

    Wanner, Christoph; Hughes, Derralynn; Mehta, Atul; Oder, Daniel; Watkinson, Oliver T.; Elliott, Perry M.; Linthorst, Gabor E.; Wijburg, Frits A.; Biegstraaten, Marieke; Hollak, Carla E.

    2017-01-01

    Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence. We classified patients by phenotype on the basis of characteristic symptoms and enzyme activity. Men and women with classical Fabry disease had higher event rate than did those with nonclassical disease (hazard ratio for men, 5.63, 95% confidence interval, 3.17 to 10.00; P<0.001; hazard ratio for women, 2.88, 95% confidence interval, 1.54 to 5.40; P<0.001). Furthermore, men with classical Fabry disease had lower eGFR, higher left ventricular mass, and higher plasma globotriaosylsphingosine concentrations than men with nonclassical Fabry disease or women with either phenotype (P<0.001). In conclusion, before treatment with enzyme replacement therapy, men with classical Fabry disease had a history of more events than men with nonclassical disease or women with either phenotype; women with classical Fabry disease were more likely to develop complications than women with nonclassical disease. These data may support the development of new guidelines for the monitoring and treatment of Fabry disease and studies on the effects of intervention in subgroups of patients. PMID:27979989

  3. Factitious disease: clinical lessons from case studies at Baylor University Medical Center

    PubMed Central

    Savino, Adria C.; Fordtran, John S.

    2006-01-01

    Factitious disease is defined as the intentional production (or feigning) of disease in oneself to relieve emotional distress by assuming the role of a sick person. Although the self-induction of disease is a conscious act, the underlying motivation is usually unconscious. It has been estimated that 3% to 5% of physician-patient encounters involve factitious disease. This article presents 6 case studies from Baylor University Medical Center that highlight various clinical aspects of factitious disease. Patients with factitious diseases are extremely difficult to recognize because they do not appear different from patients with authentic causes of similar symptoms, because their psychiatric abnormalities are not appreciated, and because doctors and nurses have alowindex of suspicion. Since patients with factitious disease present a false medicalhistory, their physicians prescribe unnecessary procedures and therapies that may result in iatrogenic disease. In many cases, damage to these patients from doctors' actions exceeds the harm resulting from the patients' self-induced illness. The clues that should suggest factitious disease, the diagnostic roles of the clinician and a consulting psychiatrist, and the ethical conflicts that confront doctors taking care of such patients are discussed. To help keep factitious disease in clinical perspective, one of the case studies involves the antithesis of factitious disease, where a patient was mistakenly diagnosed as having psychogenic pain when in fact the symptoms were caused by an overlooked physical disease. Better knowledge of the clinical features of factitious disease might have prevented the disastrous outcome. PMID:17252033

  4. Study and analysis of the state of rare disease research in Shandong Province, China.

    PubMed

    Zhao, Heng; Cui, Yazhou; Zhou, Xiaoyan; Pang, Jingxiang; Zhang, Xiumei; Xu, Shuangqing; Han, Jinxiang

    2012-11-01

    As the world's most populous country, China has the world's largest number of rare disease groups in terms of prevalence. However, the country has no system of registering cases of most rare diseases, so there is very little documented information on the epidemiology of those diseases. The purpose of this study was to study the state of rare disease research and survey doctors in Shandong Province regarding their level of awareness of rare diseases. Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. Eight hundred and twenty-four doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaire. Data were descriptively analyzed and a map of disease distribution was created. Articles about rare diseases were retrieved from the Chinese Biomedical Literature Database to provide pertinent data. This study yielded 5,749 cases of 323 different types of rare diseases. The survey found that doctors lack awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research is urgently needed. Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China.

  5. Study and analysis of the state of rare disease research in Shandong Province, China

    PubMed Central

    Zhao, Heng; Cui, Yazhou; Zhou, Xiaoyan; Pang, Jingxiang; Zhang, Xiumei; Xu, Shuangqing; Han, Jinxiang

    2012-01-01

    Summary As the world's most populous country, China has the world's largest number of rare disease groups in terms of prevalence. However, the country has no system of registering cases of most rare diseases, so there is very little documented information on the epidemiology of those diseases. The purpose of this study was to study the state of rare disease research and survey doctors in Shandong Province regarding their level of awareness of rare diseases. Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. Eight hundred and twenty-four doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaire. Data were descriptively analyzed and a map of disease distribution was created. Articles about rare diseases were retrieved from the Chinese Biomedical Literature Database to provide pertinent data. This study yielded 5,749 cases of 323 different types of rare diseases. The survey found that doctors lack awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research is urgently needed. Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China. PMID:25343091

  6. BRAIN IMAGING IN THE STUDY OF ALZHEIMER'S DISEASE

    PubMed Central

    Reiman, Eric M.; Jagust, William J.

    2012-01-01

    Over the last 20 years, there has been extraordinary progress in brain imaging research and its application to the study of Alzheimer's disease (AD). Brain imaging researchers have contributed to the scientific understanding, early detection and tracking of AD. They have set the stage for imaging techniques to play growing roles in the clinical setting, the evaluation of disease-modifying treatments, and the identification of demonstrably effective prevention therapies. They have developed ground-breaking methods, including positron emission tomography (PET) ligands to measure fibrillar amyloid-β (Aβ) deposition, new magnetic resonance imaging (MRI) pulse sequences, and powerful image analysis techniques, to help in these endeavors. Additional work is needed to develop even more powerful imaging methods, to further clarify the relationship and time course of Aβ and other disease processes in the predisposition to AD, to establish the role of brain imaging methods in the clinical setting, and to provide the scientific means and regulatory approval pathway needed to evaluate the range of promising disease-modifying and prevention therapies as quickly as possible. Twenty years from now, AD may not yet be a distant memory, but the best is yet to come. PMID:22173295

  7. Chronic kidney disease in patients at high risk of cardiovascular disease in the United Arab Emirates: A population-based study.

    PubMed

    Al-Shamsi, S; Regmi, D; Govender, R D

    2018-01-01

    Chronic kidney disease has become an increasingly significant clinical and public health issue, accounting for 1.1 million deaths worldwide. Information on the epidemiology of chronic kidney disease and associated risk factors is limited in the United Arab Emirates. Therefore, this study aimed to evaluate the incidence and causes of chronic kidney disease stages 3-5 in adult United Arab Emirates nationals with or at high risk of cardiovascular disease. This retrospective study included 491 adults with or at high risk of cardiovascular disease (diabetes mellitus or associated clinical disease) who attended outpatient clinics at a tertiary care hospital in Al-Ain, United Arab Emirates. Estimated glomerular filtration rate was assessed every 3 months from baseline to June 30, 2017. Chronic kidney disease stages 3-5 were defined as an estimated glomerular filtration rate < 60 mL/min/1.73 m2 for ≥ 3 months. Multivariable Cox's proportional hazards analysis was used to determine the independent risk factors associated with developing chronic kidney disease stages 3-5. The cumulative incidence of chronic kidney disease stages 3-5 over a 9-year period was 11.4% (95% confidence interval 8.6, 14.0). The incidence rate of these disease stages was 164.8 (95% confidence interval 121.6, 207.9) per 10,000 person-years. The independent risk factors for developing chronic kidney disease stages 3-5 were older age, history of coronary heart disease, history of diabetes mellitus, and history of smoking. These data may be useful to develop effective strategies to prevent chronic kidney disease development in high-risk United Arab Emirates nationals.

  8. Morphological changes in diseased cementum layers: a scanning electron microscopy study.

    PubMed

    Bilgin, E; Gürgan, C A; Arpak, M Nejat; Bostanci, H S; Güven, K

    2004-05-01

    The aim of this study was to compare the morphological changes that occurred in root cementum layers due to periodontal disease by using scanning electron microscopy (SEM). Ninety-two periodontally hopeless teeth extracted from 29 patients were studied. Measurements of probing depth (PD) and clinical attachment loss (CAL) were taken prior to extractions. After the longitudinal fracturing process of root specimens, healthy and diseased cementum layers of roots were evaluated by SEM for the thickness of the cementum and the morphological changes in collagen fibers. The result of SEM evaluation revealed a significant ( P < 0.001) decrease in the thickness of cementum layer on the diseased root surfaces compared to the healthy surfaces. There were denser and conspicuous collagen fibers with their interfibrillar matrix in cementum layers on the healthy root surfaces compared to the diseased surfaces. Within the limits of this study, the thickness of cementum layers in diseased areas was found to be significantly less than that in the healthy areas of root surfaces. However, there exist variations in the density and visibility of cemental fibers between individuals and within the individual.

  9. Infections in Hematopoietic Cell Transplant Recipients: Results From the Organ Transplant Infection Project, a Multicenter, Prospective, Cohort Study.

    PubMed

    Schuster, Mindy G; Cleveland, Angela A; Dubberke, Erik R; Kauffman, Carol A; Avery, Robin K; Husain, Shahid; Paterson, David L; Silveira, Fernanda P; Chiller, Tom M; Benedict, Kaitlin; Murphy, Kathleen; Pappas, Peter G

    2017-01-01

    Infection is a major cause of morbidity and mortality after allogeneic hematopoietic cell transplantation (HCT). Our object was to better define the epidemiology and outcomes of infections after HCT. This was a prospective, multicenter cohort study of HCT recipients and conducted from 2006 to 2011. The study included 4 US transplant centers and 444 HCT recipients. Data were prospectively collected for up to 30 months after HCT using a standardized data collection tool. The median age was 53 years, and median follow up was 413 (range, 5-980) days. The most common reason for HCT was hematologic malignancy (87%). The overall crude mortality was 52%. Death was due to underlying disease in 44% cases and infection in 21%. Bacteremia occurred in 231 (52%) cases and occurred early posttransplant (median day 48). Gram-negative bloodstream infections were less frequent than Gram-positive, but it was associated with higher mortality (45% vs 13%, P = .02). Clostridium difficile infection developed in 148 patients (33%) at a median of 27 days post-HCT. There were 53 invasive fungal infections (IFIs) among 48 patients (11%). The median time to IFI was 142 days. Of 155 patients with cytomegalovirus (CMV) infection, 4% had CMV organ involvement. Varicella zoster infection (VZV) occurred in 13 (4%) cases and was disseminated in 2. Infection with respiratory viruses was seen in 49 patients. Pneumocystis jirovecii pneumonia was rare (1%), and there were no documented cases of nocardiosis, toxoplasmosis, endemic mycoses, or mycobacterial infection. This study lacked standardized antifungal and antiviral prophylactic strategies. Infection remains a significant cause of morbidity and mortality after HCT. Bacteremias and C difficile infection are frequent, particularly in the early posttransplant period. The rate of IFI is approximately 10%. Organ involvement with CMV is infrequent, as are serious infections with VZV and herpes simplex virus, likely reflecting improved prevention

  10. Computational study of ‘HUB’ microRNA in human cardiac diseases

    PubMed Central

    Krishnan, Remya; Nair, Achuthsankar S.; Dhar, Pawan K.

    2017-01-01

    MicroRNAs (miRNAs) are small non-coding RNAs ~22 nucleotides long that do not encode for proteins but have been reported to influence gene expression in normal and abnormal health conditions. Though a large body of scientific literature on miRNAs exists, their network level profile linking molecules with their corresponding phenotypes, is less explored. Here, we studied a network of 191 human miRNAs reported to play a role in 30 human cardiac diseases. Our aim was to study miRNA network properties like hubness and preferred associations, using data mining, network graph theory and statistical analysis. A total of 16 miRNAs were found to have a disease node connectivity of >5 edges (i.e., they were linked to more than 5 diseases) and were considered hubs in the miRNAcardiac disease network. Alternatively, when diseases were considered as hubs, >10 of miRNAs showed up on each ‘disease hub node’. Of all the miRNAs associated with diseases, 19 miRNAs (19/24= 79.1% of upregulated events) were found to be upregulated in atherosclerosis. The data suggest micro RNAs as early stage biological markers in cardiac conditions with potential towards microRNA based therapeutics. PMID:28479745

  11. Endometriosis research: animal models for the study of a complex disease.

    PubMed

    Tirado-González, Irene; Barrientos, Gabriela; Tariverdian, Nadja; Arck, Petra C; García, Mariana G; Klapp, Burghard F; Blois, Sandra M

    2010-11-01

    Endometriosis is a common gynaecological disease that is characterized and defined as the presence of endometrial tissue outside the uterus, causing painful periods and subfertility in approximately 10% of women. After more than 50 years of research, little is known about the mechanisms underlying the development and establishment of this condition. Animal models allow us to study the temporal sequence of events involved in disease establishment and progression. Also, because this disease occurs spontaneously only in humans and non-human primates and there are practical problems associated with studying the disease, animal models have been developed for the evaluation of endometriosis. This review describes the animal models for endometriosis that have been used to date, highlighting their importance for the investigation of disease mechanisms that would otherwise be more difficult to elucidate, and proposing new alternatives aimed at overcoming some of these limitations. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  12. Household Fuel Use and Cardiovascular Disease Mortality: Golestan Cohort Study

    PubMed Central

    Mitter, Sumeet S.; Vedanthan, Rajesh; Islami, Farhad; Pourshams, Akram; Khademi, Hooman; Kamangar, Farin; Abnet, Christian C.; Dawsey, Sanford M.; Pharoah, Paul D.; Brennan, Paul; Fuster, Valentin; Boffetta, Paolo; Malekzadeh, Reza

    2016-01-01

    Background Household air pollution is the third largest risk factor for global disease burden, but direct links with cardiovascular disease mortality are limited. This study aimed to evaluate the relationship between household fuel use and cardiovascular disease mortality. Methods and Results The Golestan Cohort Study in northeastern Iran enrolled 50045 individuals aged 40 to 75 years between 2004 and 2008, and collected data on lifetime household fuel use and other baseline exposures. Participants were followed through 2012 with a 99% successful follow-up rate. Cox proportional hazards models were fitted to calculate hazard ratios (HRs) for associations between pehen (local dung), wood, kerosene/diesel, or natural gas burning for cooking and heating and all-cause and cause-specific mortality, adjusting for lifetime exposure to each of these fuels and potential confounders. 3073 participants (6%) died during follow-up, 78% of which were attributable to non-communicable diseases, including cardiovascular, oncologic and respiratory illnesses. Adjusted 10-year HRs from kerosene/diesel burning were 1.06 (95% CI 1.02-1.10), and 1.11 (1.06-1.17), respectively, for all-cause and cardiovascular mortality. Subtype-specific analyses revealed a significant increase in ischemic heart disease (10-year HR 1.14 (1.06-1.21)) and a trend toward cerebrovascular accident (10-year HR 1.08 (0.99-1.17)) mortality. Stratification by sex revealed a potential signal for increased risk for all-cause and cardiovascular disease mortality among women versus men, with similar risk for ischemic heart disease mortality. Conclusions Household exposure to high-pollution fuels was associated with increased risk for all-cause and cardiovascular disease mortality. Replicating these results worldwide would support efforts to reduce such exposures. PMID:27297340

  13. Periodontal Disease and Incident Lung Cancer Risk: A Meta-Analysis of Cohort Studies.

    PubMed

    Zeng, Xian-Tao; Xia, Ling-Yun; Zhang, Yong-Gang; Li, Sheng; Leng, Wei-Dong; Kwong, Joey S W

    2016-10-01

    Periodontal disease is linked to a number of systemic diseases such as cardiovascular diseases and diabetes mellitus. Recent evidence has suggested periodontal disease might be associated with lung cancer. However, their precise relationship is yet to be explored. Hence, this study aims to investigate the association of periodontal disease and risk of incident lung cancer using a meta-analytic approach. PubMed, Scopus, and ScienceDirect were searched up to June 10, 2015. Cohort and nested case-control studies investigating risk of lung cancer in patients with periodontal disease were included. Hazard ratios (HRs) were calculated, as were their 95% confidence intervals (CIs) using a fixed-effect inverse-variance model. Statistical heterogeneity was explored using the Q test as well as the I(2) statistic. Publication bias was assessed by visual inspection of funnel plots symmetry and Egger's test. Five cohort studies were included, involving 321,420 participants in this meta-analysis. Summary estimates based on adjusted data showed that periodontal disease was associated with a significant risk of lung cancer (HR = 1.24, 95% CI = 1.13 to 1.36; I(2) = 30%). No publication bias was detected. Subgroup analysis indicated that the association of periodontal disease and lung cancer remained significant in the female population. Evidence from cohort studies suggests that patients with periodontal disease are at increased risk of developing lung cancer.

  14. Musculoskeletal manifestations of Fabry disease: A retrospective study.

    PubMed

    Lidove, Olivier; Zeller, Valérie; Chicheportiche, Valérie; Meyssonnier, Vanina; Sené, Thomas; Godot, Sophie; Ziza, Jean-Marc

    2016-07-01

    Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available. We conducted a single-center retrospective study of patients receiving follow-up at a Fabry disease referral center. We described the musculoskeletal manifestations and analyzed the differential diagnoses. Our study included 40 patients belonging to 20 families, including 25 females with a mean age of 44.2 years (range, 20-76 years) and 15 males with a mean age of 40.1 years (range, 16-61 years). Mean age at the diagnosis of Fabry disease was 37.2 years (range, 7-71 years) in the females and 26.9 years (range, 9-51 years) in the males. Specific enzyme replacement therapy was given to 10 (40%) females and 12 (80%) males. Musculoskeletal manifestations were as follows: past or present pain in the extremities (13 females and 10 males), combined in some patients with vasomotor disorders in the extremities and telangiectasia; exercise intolerance (12 females and 12 males); osteoporotic fractures (2 brothers aged 45 and 44 years, respectively); osteoporosis (3 females, aged 57, 63, and 75 years, respectively), which contributed to death in the oldest patient; osteopenia (2 females aged 38 and 47 years, respectively; and 1 male aged 43 years); Charcot foot and lymphedema with serious infectious complications (4 males older than 40 years), with avascular osteonecrosis of the lower limbs in 2 cases; toe amputations (3 cases); bilateral lower-limb amputation (1 case); abnormally slender lower limbs (5 females and

  15. Immunological studies in patients with Crohn's disease.

    PubMed Central

    MacPherson, B R; Albertini, R J; Beeken, W L

    1976-01-01

    An investigation of immunological parameters was conducted in 38 patients with Crohn's disease. The immunological tests employed included skin tests with dinitrochlorobenzene and a battery of common skin test antigens, lymphocyte transformation with phytohaemagglutinin and pokeweed mitogen, serum immunoglobulins, and absolute lymphocyte counts. Crohn's disease patients were divided into two groups, those treated with immunosuppressive drugs and those not receiving immunosuppressive medications. The latter group was subdivided into patients with active and inactive disease. Immunosuppressed patients with Crohn's disease did not develop sensitivity to dinitrochlorobenzene and had mildly depressed skin test reactivity to common skin test procedures. Non-immunosuppressed patients with active Crohn's disease also reacted less frequently to common skin test antigens, but 16 of 17 such patients developed sensitivity to dinitrochlorobenzene. Lymphocyte transformation with phytohaemagglutinin and pokeweed mitogen was normal in all groups of patients with Crohn's disease. However, when suboptimal incubation periods were used with phytohaemagglutinin stimulation, there was a significant difference between Crohn's disease patients and controls. Serum immunoglobulin levels and absolute lymphocyte counts were normal in all Crohn's disease patients. We conclude that immunity in Crohn's disease is qualitatively normal. PMID:1261880

  16. [Characteristics of Dupuytren's disease in women. A study of 67 cases].

    PubMed

    Ferry, N; Lasserre, G; Pauchot, J; Lepage, D; Tropet, Y

    2013-12-01

    The aim of this study was to identify the clinical differences of the Dupuytren's disease in gender. Testosterone induces an increase of the Dupuytren's fibroblast proliferation via androgen's receptors. Testosterone rate increases during pregnancy and menopausis. We also reached a link between this factors and the clinical aspects of Dupuytren' disease in the women of our study. This retrospective, comparative study was about all women and a randomized number of men, who underwent surgery for Dupuytren' disease between 1980 and 2010. We analysed all the epidemiologic and clinical data, the surgery procedures and the complications. Pre- and postoperative measurements of the extension lack of all the joints were performed with a manual goniometer. Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire was used to evaluate the patients function. This specific data of women were reached. Sixty-seven women and 69 men were compared. The complex regional pain syndrome was significantly more common in women and the correction of the proximal interphalangeal joint was significantly lower in women. Recurrence rate and mean follow up were not statistically different. Mean DASH score was higher in women. We have not found any association between menopausis, pregnancy and the average age at presentation of the disease, the recurrence rate or the extension rate. The prognosis of the Dupuytren's disease is worse in women than in men. Other studies are necessary to reach the link between the testosterone and the clinical history of the disease in women. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  17. [Tropical dermatology training in the Bundeswehr: Deployment in Manaus, Brazil].

    PubMed

    Fischer, M

    2015-05-01

    Training in tropical dermatology at the Fundação de Medicina tropical (FMT-AM) in Manaus, Brazil, offers an ideal opportunity to become familiar with the broad spectrum of tropical skin-diseases which are endemic in the tropical rainforest of the Amazon region. Besides frequently observed cases of cutaneous leishmaniasis of the new world, mucocutaneous forms of leishmaniasis and all entities of the different deep mycoses of South America are also regularly diagnosed. Of special importance in the dermatological care of the population is the early diagnosis of all clinical forms of leprosy and the long-term care of HIV patients. Modern diagnostics, including histopathology and molecular biology analytical methods, enable patients at the FMT-AM to be diagnosed without having to solely rely on clinical presentation and epidemiological data.

  18. Long term gluten consumption in adults without celiac disease and risk of coronary heart disease: prospective cohort study.

    PubMed

    Lebwohl, Benjamin; Cao, Yin; Zong, Geng; Hu, Frank B; Green, Peter H R; Neugut, Alfred I; Rimm, Eric B; Sampson, Laura; Dougherty, Lauren W; Giovannucci, Edward; Willett, Walter C; Sun, Qi; Chan, Andrew T

    2017-05-02

    Objective  To examine the association of long term intake of gluten with the development of incident coronary heart disease. Design  Prospective cohort study. Setting and participants  64 714 women in the Nurses' Health Study and 45 303 men in the Health Professionals Follow-up Study without a history of coronary heart disease who completed a 131 item semiquantitative food frequency questionnaire in 1986 that was updated every four years through 2010. Exposure  Consumption of gluten, estimated from food frequency questionnaires. Main outcome measure  Development of coronary heart disease (fatal or non-fatal myocardial infarction). Results  During 26 years of follow-up encompassing 2 273 931 person years, 2431 women and 4098 men developed coronary heart disease. Compared with participants in the lowest fifth of gluten intake, who had a coronary heart disease incidence rate of 352 per 100 000 person years, those in the highest fifth had a rate of 277 events per 100 000 person years, leading to an unadjusted rate difference of 75 (95% confidence interval 51 to 98) fewer cases of coronary heart disease per 100 000 person years. After adjustment for known risk factors, participants in the highest fifth of estimated gluten intake had a multivariable hazard ratio for coronary heart disease of 0.95 (95% confidence interval 0.88 to 1.02; P for trend=0.29). After additional adjustment for intake of whole grains (leaving the remaining variance of gluten corresponding to refined grains), the multivariate hazard ratio was 1.00 (0.92 to 1.09; P for trend=0.77). In contrast, after additional adjustment for intake of refined grains (leaving the variance of gluten intake correlating with whole grain intake), estimated gluten consumption was associated with a lower risk of coronary heart disease (multivariate hazard ratio 0.85, 0.77 to 0.93; P for trend=0.002). Conclusion  Long term dietary intake of gluten was not associated with risk of coronary heart disease

  19. Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci.

    PubMed

    Scelsi, Marzia A; Khan, Raiyan R; Lorenzi, Marco; Christopher, Leigh; Greicius, Michael D; Schott, Jonathan M; Ourselin, Sebastien; Altmann, Andre

    2018-05-30

    Identifying genetic risk factors underpinning different aspects of Alzheimer's disease has the potential to provide important insights into pathogenesis. Moving away from simple case-control definitions, there is considerable interest in using quantitative endophenotypes, such as those derived from imaging as outcome measures. Previous genome-wide association studies of imaging-derived biomarkers in sporadic late-onset Alzheimer's disease focused only on phenotypes derived from single imaging modalities. In contrast, we computed a novel multi-modal neuroimaging phenotype comprising cortical amyloid burden and bilateral hippocampal volume. Both imaging biomarkers were used as input to a disease progression modelling algorithm, which estimates the biomarkers' long-term evolution curves from population-based longitudinal data. Among other parameters, the algorithm computes the shift in time required to optimally align a subjects' biomarker trajectories with these population curves. This time shift serves as a disease progression score and it was used as a quantitative trait in a discovery genome-wide association study with n = 944 subjects from the Alzheimer's Disease Neuroimaging Initiative database diagnosed as Alzheimer's disease, mild cognitive impairment or healthy at the time of imaging. We identified a genome-wide significant locus implicating LCORL (rs6850306, chromosome 4; P = 1.03 × 10-8). The top variant rs6850306 was found to act as an expression quantitative trait locus for LCORL in brain tissue. The clinical role of rs6850306 in conversion from healthy ageing to mild cognitive impairment or Alzheimer's disease was further validated in an independent cohort comprising healthy, older subjects from the National Alzheimer's Coordinating Center database. Specifically, possession of a minor allele at rs6850306 was protective against conversion from mild cognitive impairment to Alzheimer's disease in the National Alzheimer's Coordinating Center cohort (hazard

  20. Disease burden attributed to alcohol: How methodological advances in the Global Burden of Disease 2013 study have changed the estimates in Sweden.

    PubMed

    Kellerborg, Klas; Danielsson, Anna-Karin; Allebeck, Peter; Coates, Matthew M; Agardh, Emilie

    2016-08-01

    The Global Burden of Disease (GBD) study continuously refines its estimates as new data and methods become available. In the latest iteration of the study, GBD 2013, changes were made related to the disease burden attributed to alcohol. The aim of this study was to briefly present these changes and to compare the disease burden attributed to alcohol in Swedish men and women in 2010 using previous and updated methods. In the GBD study, the contribution of alcohol to the burden of disease is estimated by theoretically assessing how much of the disease burden can be avoided by reducing the consumption of alcohol to zero. The updated methods mainly consider improved measurements of alcohol consumption, including less severe alcohol dependence, assigning the most severe injuries and removing the protective effect of drinking on cardiovascular diseases if combined with binge drinking. The overall disease burden attributed to alcohol in 2010 increased by 14% when using the updated methods. Women accounted for this overall increase, mainly because the updated methods led to an overall higher alcohol consumption in women. By contrast, the overall burden decreased in men, one reason being the lower overall alcohol consumption with the new methods. In men, the inclusion of less severe alcohol dependence resulted in a large decrease in the alcohol attributed disease burden. This was, however, evened out to a great extent by the increase in cardiovascular disease and injuries. CONCLUSIONS WHEN USING THE UPDATED GBD METHODS, THE OVERALL DISEASE BURDEN ATTRIBUTED TO ALCOHOL INCREASED IN WOMEN, BUT NOT IN MEN. © 2016 the Nordic Societies of Public Health.

  1. Risk of Periodontal Diseases in Patients With Chronic Obstructive Pulmonary Disease: A Nationwide Population-based Cohort Study.

    PubMed

    Shen, Te-Chun; Chang, Pei-Ying; Lin, Cheng-Li; Chen, Chia-Hung; Tu, Chih-Yen; Hsia, Te-Chun; Shih, Chuen-Ming; Hsu, Wu-Huei; Sung, Fung-Chang; Kao, Chia-Hung

    2015-11-01

    Several studies have reported an association between chronic obstructive pulmonary disease (COPD) and periodontal diseases. However, a large-scale population-based cohort study was previously absent from the literature. Therefore, we evaluated the risk of periodontal diseases in patients with COPD in a nationwide population.From the National Health Insurance claims data of Taiwan, we identified 22,332 patients with COPD who were newly diagnosed during 2000 to 2010. For each case, two individuals without COPD were randomly selected and frequency matched by age, sex, and diagnosis year. Both groups were followed up till the end of 2011.The overall incidence of periodontal diseases was 1.19-fold greater in the COPD group than in the comparison group (32.2 vs 26.4 per 1000 person-years; 95% confidence interval [CI] 1.15-1.24). Compared with non-COPD patients, the adjusted hazard ratios of patients with COPD increased with the number of emergency room visits (from 1.14 [95% CI 1.10-1.19] to 5.09 [95% CI 4.53-5.72]) and admissions (from 1.15 [95% CI 1.10-1.20] to 3.17 [95% CI 2.81-3.57]). In addition, the adjusted hazard ratios of patients with COPD treated with inhaled corticosteroids (1.22, 95% CI 1.11-1.34) and systemic corticosteroids (1.15, 95% CI 1.07-1.23) were significantly higher than those of patients not treated with corticosteroids.Patient with COPD are at a higher risk of developing periodontal diseases than the general population. Our results also support that the risk of periodontal diseases is proportional to COPD control. In addition, patients who receive corticosteroid treatment are at a higher risk of developing periodontal diseases.

  2. Integration of Spatial and Social Network Analysis in Disease Transmission Studies.

    PubMed

    Emch, Michael; Root, Elisabeth D; Giebultowicz, Sophia; Ali, Mohammad; Perez-Heydrich, Carolina; Yunus, Mohammad

    2012-01-01

    This study presents a case study of how social network and spatial analytical methods can be used simultaneously for disease transmission modeling. The paper first reviews strategies employed in previous studies and then offers the example of transmission of two bacterial diarrheal diseases in rural Bangladesh. The goal is to understand how diseases vary socially above and beyond the effects of the local neighborhood context. Patterns of cholera and shigellosis incidence are analyzed in space and within kinship-based social networks in Matlab, Bangladesh. Data include a spatially referenced longitudinal demographic database which consists of approximately 200,000 people and laboratory-confirmed cholera and shigellosis cases from 1983 to 2003. Matrices are created of kinship ties between households using a complete network design and distance matrices are also created to model spatial relationships. Moran's I statistics are calculated to measure clustering within both social and spatial matrices. Combined spatial effects-spatial disturbance models are built to simultaneously analyze spatial and social effects while controlling for local environmental context. Results indicate that cholera and shigellosis always clusters in space and only sometimes within social networks. This suggests that the local environment is most important for understanding transmission of both diseases however kinship-based social networks also influence their transmission. Simultaneous spatial and social network analysis can help us better understand disease transmission and this study has offered several strategies on how.

  3. Inverse association between cancer and Alzheimer's disease: results from the Framingham Heart Study.

    PubMed

    Driver, Jane A; Beiser, Alexa; Au, Rhoda; Kreger, Bernard E; Splansky, Greta Lee; Kurth, Tobias; Kiel, Douglas P; Lu, Kun Ping; Seshadri, Sudha; Wolf, Phillip A

    2012-03-12

    To relate cancer since entry into the Framingham Heart Study with the risk of incident Alzheimer's disease and to estimate the risk of incident cancer among participants with and without Alzheimer's disease. Community based prospective cohort study; nested age and sex matched case-control study. Framingham Heart Study, USA. 1278 participants with and without a history of cancer who were aged 65 or more and free of dementia at baseline (1986-90). Hazard ratios and 95% confidence intervals for the risks of Alzheimer's disease and cancer. Over a mean follow-up of 10 years, 221 cases of probable Alzheimer's disease were diagnosed. Cancer survivors had a lower risk of probable Alzheimer's disease (hazard ratio 0.67, 95% confidence interval 0.47 to 0.97), adjusted for age, sex, and smoking. The risk was lower among survivors of smoking related cancers (0.26, 0.08 to 0.82) than among survivors of non-smoking related cancers (0.82, 0.57 to 1.19). In contrast with their decreased risk of Alzheimer's disease, survivors of smoking related cancer had a substantially increased risk of stroke (2.18, 1.29 to 3.68). In the nested case-control analysis, participants with probable Alzheimer's disease had a lower risk of subsequent cancer (0.39, 0.26 to 0.58) than reference participants, as did participants with any Alzheimer's disease (0.38) and any dementia (0.44). Cancer survivors had a lower risk of Alzheimer's disease than those without cancer, and patients with Alzheimer's disease had a lower risk of incident cancer. The risk of Alzheimer's disease was lowest in survivors of smoking related cancers, and was not primarily explained by survival bias. This pattern for cancer is similar to that seen in Parkinson's disease and suggests an inverse association between cancer and neurodegeneration.

  4. [The French Chronic Kidney Disease-Renal Epidemiology and Information Network (CKD-REIN) cohort study: To better understand chronic kidney disease].

    PubMed

    Stengel, Bénédicte; Combe, Christian; Jacquelinet, Christian; Briançon, Serge; Fouque, Denis; Laville, Maurice; Frimat, Luc; Pascal, Christophe; Herpe, Yves-Édouard; Morel, Pascal; Deleuze, Jean-François; Schanstra, Joost P; Pisoni, Ron L; Robinson, Bruce M; Massy, Ziad A

    2016-04-01

    Preserving kidney function and improving the transition from chronic kidney disease to end stage is a research and healthcare challenge. The national Chronic Kidney Disease-Renal Epidemiology and Information Network (CKD-REIN) cohort was established to identify the determinants, biomarkers and practice patterns associated with chronic kidney disease outcomes. The study will include more than 3000 adult patients with moderate to advanced chronic kidney disease from a representative sample of 40 nephrology clinics with respect to regions and legal status, public or private. Patients are recruited during a routine visit and followed for 5 years, before and after starting renal replacement therapy. Patient-level clinical, biological, and lifestyle data are collected annually, as well as provider-level data on clinical practices, coordinated with the International Chronic Kidney Disease Outcomes and Practice Pattern Study. Blood and urine samples are stored in a biobank. Major studied outcomes include survival, patient-reported outcomes, disease progression and hospitalizations. More than 13,000 eligible patients with chronic kidney disease were identified, 60% with stage 3 and 40% with stage 4. Their median age is 72 years [interquartile range, 62-80 years], 60% are men and 38% have diabetes. By the end of December 2015, 2885 patients were included. The CKD-REIN cohort will serve to improve our understanding of chronic kidney disease and provide evidence to improve patient survival and quality of life as well as health care system performances. Copyright © 2016 Association Société de néphrologie. All rights reserved.

  5. Positive association between leptin serum levels and disease activity on endoscopy in inflammatory bowel disease: A case-control study

    PubMed Central

    Trejo-Vazquez, Fabiola; Garza-Veloz, Idalia; Villela-Ramirez, Gabriela Alejandra; Ortiz-Castro, Yolanda; Mauricio-Saucedo, Panfilo; Cardenas-Vargas, Edith; Diaz-Baez, Mariana; Cid-Baez, Miguel A.; Castañeda-Miranda, Rodrigo; Ortiz-Rodriguez, Jose Manuel; Solis-Sanchez, Luis Octavio; Martinez-Fierro, Margarita L.

    2018-01-01

    Inflammatory bowel disease (IBD) includes ulcerative colitis (UC), Crohn's disease (CD) and indeterminate colitis. As these subtypes of IBD display important differences in the behavior of the natural course of the disease, the identification of non-invasive markers for IBD is important. The aim of the present study was to evaluate the serum levels of 10 adipokines and their association with endoscopic activity in IBD. The 10-protein profile (C-peptide, ghrelin, gastric inhibitory polypeptide, glucagon-like peptide-1, glucagon, insulin, leptin, plasminogen activator inhibitor-1, resistin and visfatin) was evaluated using serum from 53 participants (23 UC and 11 CD patients, as well as 19 controls) from Zacatecas (Mexico) by using the Bio-Plex Pro Human Diabetes 10-Plex Panel (Bio-Rad Laboratories, Inc.). Compared with those in the controls, leptin levels were significantly lower in patients with IBD (P=4.9×10−4). In addition, serum leptin displayed differences between groups with and without disease activity on endoscopy (P<0.001). Among the study population, serum leptin levels of <5,494 pg/ml significantly increased the odds of IBD by 12.8-fold [odds ratio (OR)=12.8, 95% confidence interval (CI)=3.04–53.9, P=0.001]. In addition, patients with serum leptin levels of <2,498 pg/ml displayed 5.8-fold greater odds of disease activity on endoscopy among the study population (OR=5.8, 95% CI=1.52–22.4, P=0.013). No differences in the serum levels of the remaining proteins were identified between the groups. Among the study population, serum leptin was associated with an increased risk of IBD and with disease activity on endoscopy. Additional studies will be necessary to validate the use of leptin as a non-invasive biomarker of IBD severity. PMID:29545852

  6. Methamphetamine use and dental disease: results of a pilot study.

    PubMed

    Cretzmeyer, Margaret; Walker, Jerry; Hall, James A; Arndt, Stephan

    2007-01-01

    The purpose of this study was to evaluate the feasibility of using a standard dental examination to detect methamphetamine use. Data were collected from 31 patients in a hospital-based inpatient chemical dependency treatment unit using cross-sectional study design. Patients who reported current methamphetamine use were compared with patients who denied methamphetamine use on data from dental examinations and an in-depth substance use assessment. Evidence of a relationship between methamphetamine use and dental disease was not detected in this sample. Both groups had a high degree of behaviors and risk factors other than substance abuse that contributed to dental disease. Based on these data, clients who used methamphetamine could not be distinguished from those who used other substances. Both groups presented significant dental disease, however, and it may be that most, if not all, patients in this hospital-based unit had significant chronic health problems including dental disease. Although adolescent use of methamphetamine is primarily restricted to older adolescents, consequences of use are severe and early identification of drug use may forestall some of the more severe consequences.

  7. Relationship Between Prehypertension/Hypertension and Periodontal Disease: A Prospective Cohort Study.

    PubMed

    Kawabata, Yuya; Ekuni, Daisuke; Miyai, Hisataka; Kataoka, Kota; Yamane, Mayu; Mizutani, Shinsuke; Irie, Koichiro; Azuma, Tetsuji; Tomofuji, Takaaki; Iwasaki, Yoshiaki; Morita, Manabu

    2016-03-01

    Most cross-sectional studies have found a significant positive relationship between periodontal disease and prehypertension/hypertension. However, these studies had limitations and there are few prospective cohort studies in young adults. The purpose of this prospective cohort study was to investigate whether periodontal disease was related to prehypertension/hypertension in Japanese university students. Students (n = 2,588), who underwent health examinations before entering university and before graduation, were included in the analysis. The association between periodontal disease such as the percentage of bleeding on probing (BOP) and community periodontal index (CPI) scores, and change in blood pressure status was determined. At the reexamination, the numbers of participants with prehypertension (systolic blood pressure 120-139mm Hg or diastolic blood pressure 80-89mm Hg) and hypertension (≥140/90mm Hg) were 882 (34.1%) and 109 (4.2%), respectively. In a logistic regression model, the risk of hypertension was significantly associated with male (odds ratio (OR): 6.31; 95% confidence interval (CI): 2.63-15.13; P < 0.001), no habitual physical activity at baseline (OR: 2.90; 95% CI: 1.56-5.38; P < 0.01) and periodontal disease defined as the presence of both probing pocket depth (PPD) ≥ 4mm and BOP ≥ 30% at baseline (OR: 2.74; 95% CI: 1.19-6.29; P = 0.02) in participants with prehypertension at baseline. On the other hand, the risk of prehypertension was not associated with presence of periodontal disease (OR: 0.93; 95% CI: 0.51-1.70; P = 0.82). In the short-term prospective cohort study, a significant association between presence of periodontal disease and hypertension was observed in Japanese university students. © American Journal of Hypertension, Ltd 2015. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  8. Prognosis of Parkinson disease: risk of dementia and mortality: the Rotterdam Study.

    PubMed

    de Lau, Lonneke M L; Schipper, C Maarten A; Hofman, Albert; Koudstaal, Peter J; Breteler, Monique M B

    2005-08-01

    Most prognostic studies on Parkinson disease have been hospital based or have applied register-based case-finding methods. Potential under-representation of mild cases may have given biased results. To evaluate whether Parkinson disease is associated with an increased risk of dementia and death. Population-based cohort study. Parkinson disease and dementia were assessed through in-person examination at baseline (1990-1993) and 2 follow-up visits (1993-1994 and 1997-1999). Computerized linkage to medical and municipality records provided additional information on disease outcomes and mortality. General population. A total of 6969 participants, including 99 prevalent and 67 incident cases of Parkinson disease. Incident dementia and death. Adjusted hazard ratios were calculated through Cox proportional hazards regression analysis. Patients with Parkinson disease had an increased risk of dementia (hazard ratio, 2.8; 95% confidence interval, 1.8-4.4), which was especially pronounced in participants carrying at least 1 apolipoprotein E gene (APOE) epsilon2 allele (13.5; 4.5-40.6). Parkinson disease was associated with an increased mortality risk (1.8; 1.5-2.3). The association consistently diminished when analyses were sequentially restricted to patients with shorter disease duration and after adjustment for the occurrence of dementia. Especially patients with Parkinson disease who carry an APOE epsilon2 allele have an increased risk of developing dementia. Increased mortality risk in Parkinson disease is dependent on disease duration and is only modest in the absence of dementia.

  9. The population ecology of infectious diseases: pertussis in Thailand as a case study.

    PubMed

    Blackwood, J C; Cummings, D A T; Broutin, H; Iamsirithaworn, S; Rohani, P

    2012-12-01

    Many of the fundamental concepts in studying infectious diseases are rooted in population ecology. We describe the importance of population ecology in exploring central issues in infectious disease research including identifying the drivers and dynamics of host-pathogen interactions and pathogen persistence, and evaluating the success of public health policies. The use of ecological concepts in infectious disease research is demonstrated with simple theoretical examples in addition to an analysis of case notification data of pertussis, a childhood respiratory disease, in Thailand as a case study. We stress that further integration of these fields will have significant impacts in infectious diseases research.

  10. A review of advances in the study of diseases of fish: 1954-1964

    USGS Publications Warehouse

    Post, G.

    1965-01-01

    STUDY OF DISEASE IN ANIMALS, INCLUDING MAN, has progressed rapidly in the past decade. Looking back, we find amazing success in the study of man's diseases and possibly only a little less success in studies of diseases of domesticated homeothermic animals. We who are interested in the poikilothermic animals may feel at times that we have not advanced so rapidly in our field. The reason for this may be closely associated with economics. The market for drugs and therapeutic agents is greater for domestic livestock than for cultured fishes. A larger income is derived from rearing domestic livestock. Therefore, more public funds are available for study of diseases of man and domestic livestock, while such funds are limited for the study of diseases of fish. The Federal and State fish-cultural systems, as well as colleges and universities, have been most active in research on fish disease and probably will continue to be so.

  11. Burden of Oral Diseases in Iran, 1990-2010: Findings from the Global Burden of Disease Study 2010.

    PubMed

    Shoaee, Shervan; Ghasemian, Anoosheh; Mehrabani, Kamran; Naderimagham, Shohreh; Delavari, Farnaz; Sheidaei, Ali; Hajizadeh, Nastaran; Varmaghani, Mehdi; Hessari, Hossein

    2015-08-01

    Oral diseases, as a group of chronic diseases, are among the major public health problems that lead to disability throughout the world. The major part of burden of oral diseases is caused by dental caries, periodontal diseases, edentulism, mouth cancer, cleft lip, and cleft palate. The aim of the present paper is to report the global results for the burden of oral disease in Iran from 1990 to 2010, derived from GBD study 2010 by sex and age. The Global Burden of Disease Study 2010 (GBD 2010) was a systematic effort with a common framework to estimate disability adjusted life years (DALYs) for diseases in different parts of the world. Years of life lost due to premature mortality (YLLs) were assessed based on cause-of-death estimates and by means of a cause of death ensemble model (CODEm). Years of life lost due to disability (YLDs) were computed by multiplying the prevalence, the disability weight for a sequel, and the duration of symptoms. A systematic review of published and unpublished data was conducted to estimate disease distribution using a Bayesian meta-regression method (DisMod-MR). Disability weights were measured by collecting data from population-based surveys. In this paper, we describe the results of GBD 2010 regarding oral diseases in Iran, critique the results, and provide some recommendations. Between 1990 and 2010 in Iran, an increase occurred in DALYs at all ages, attributed to dental caries (from 37,230 to 56,521) as well as periodontal diseases (from 21,482 to 43,308), and a decrease was found for edentulism (from 53,134 to 47,960). DALYs at all ages attributed to mouth cancer increased (from 5,597 to 7,771), while a decline was noted for cleft lip and cleft palate (from 6,157 to 5,034). The age-standardized DALY rates per 100,000 population did not considerably change for dental caries and periodontal diseases, while edentulism showed a reduction. The corresponding DALY rate due to mouth cancer decreased, while it remained almost unchanged for

  12. Comorbid autoimmune diseases in patients with vitiligo: A cross-sectional study.

    PubMed

    Gill, Liza; Zarbo, Allison; Isedeh, Prescilia; Jacobsen, Gordon; Lim, Henry W; Hamzavi, Iltefat

    2016-02-01

    Few large-scale studies have quantified the burden of comorbid autoimmune diseases in patients with vitiligo. We sought to determine the prevalence of comorbid autoimmune diseases in patients with vitiligo. We conducted a manual chart review on a cohort of 1873 patients with vitiligo seen between January 2002 and October 2012 at the Henry Ford Health System in Detroit, MI. Patients were excluded if they had fewer than 2 dermatology notes (N = 595) or if they were never given a diagnosis of vitiligo by a dermatologist (N = 180). Of 1098 patients with vitiligo, nearly 20% had at least 1 comorbid autoimmune disease. Compared with the general US population, we found a higher prevalence of thyroid disease (12.9%, P < .001), alopecia areata (3.8%, P < .001), inflammatory bowel disease (0.9%, P = .046), pernicious anemia (0.5%, P = .007), systemic lupus erythematosus (0.3%, P = .048), Guillain-Barre syndrome (0.3%, P < .001), discoid lupus (0.2%, P = .003), linear morphea (0.2%, P < .001), myasthenia gravis (0.2%, P = .002), and Sjögren syndrome (0.2%, P = .011). The study lacked a control group. This was a single-institution study with possible selection bias, and thus the findings may not be representative of the overall population of patients with vitiligo. We observed a high prevalence of comorbid autoimmune diseases in patients with vitiligo and report several new associations. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  13. High burden of rheumatic diseases in Lebanon: a COPCORD study.

    PubMed

    Chaaya, Monique; Slim, Zeinab N; Habib, Rima R; Arayssi, Thurayya; Dana, Rouwayda; Hamdan, Omar; Assi, Maher; Issa, Zeinab; Uthman, Imad

    2012-04-01

    To estimate the prevalence of rheumatic diseases in Lebanon and to explore their distribution by geographic location, age, and gender.   Using the Community Oriented Program for the Control of Rheumatic Diseases (COPCORD) methodology, a random sample of 3530 individuals aged 15 and above was interviewed from the six Lebanese governorates. Positive respondents were evaluated by rheumatologists using the internationally accepted classification criterion of the American College of Rheumatology for the diagnosis of rheumatic diseases. Prevalence rates of current and past musculoskeletal problems were 24.4% and 8.4%, respectively. Shoulder (14.3%), knee (14.2%) and back (13.6%) were the most common pain sites. Point prevalence of rheumatic diseases was 15.0%. The most frequent types of rheumatic diseases were of mechanical origin, namely soft tissue rheumatism (5.8%) and osteoarthritis (4.0%). Rheumatoid arthritis (1.0%) and spondylathropathies (0.3%) constituted the most common inflammatory diseases. Coastal areas had the lowest prevalence of all diseases except for fibromyalgia. All diseases showed an increasing prevalence pattern with age and a higher prevalence among women than men. This is the first study to give population-based estimates of rheumatic diseases in Lebanon. The high burden calls for public health attention for early detection, control and prevention of these conditions. Point prevalence of individual diseases was within the range of results from other COPCORD surveys with some variations that can be attributed to differences in methodology and geo-ethnic factors. © 2011 The Authors. International Journal of Rheumatic Diseases © 2011 Asia Pacific League of Associations for Rheumatology and Blackwell Publishing Asia Pty Ltd.

  14. 75 FR 20606 - The Agricultural Health Study: A Prospective Cohort Study of Cancer and Other Disease Among Men...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health The Agricultural Health Study: A Prospective Cohort Study of Cancer and Other Disease Among Men and Women in Agriculture (NCI... Study of Cancer and Other Disease Among Men and Women in Agriculture (NCI)'' was submitted with errors...

  15. A comparative study of disease genes and drug targets in the human protein interactome

    PubMed Central

    2015-01-01

    Background Disease genes cause or contribute genetically to the development of the most complex diseases. Drugs are the major approaches to treat the complex disease through interacting with their targets. Thus, drug targets are critical for treatment efficacy. However, the interrelationship between the disease genes and drug targets is not clear. Results In this study, we comprehensively compared the network properties of disease genes and drug targets for five major disease categories (cancer, cardiovascular disease, immune system disease, metabolic disease, and nervous system disease). We first collected disease genes from genome-wide association studies (GWAS) for five disease categories and collected their corresponding drugs based on drugs' Anatomical Therapeutic Chemical (ATC) classification. Then, we obtained the drug targets for these five different disease categories. We found that, though the intersections between disease genes and drug targets were small, disease genes were significantly enriched in targets compared to their enrichment in human protein-coding genes. We further compared network properties of the proteins encoded by disease genes and drug targets in human protein-protein interaction networks (interactome). The results showed that the drug targets tended to have higher degree, higher betweenness, and lower clustering coefficient in cancer Furthermore, we observed a clear fraction increase of disease proteins or drug targets in the near neighborhood compared with the randomized genes. Conclusions The study presents the first comprehensive comparison of the disease genes and drug targets in the context of interactome. The results provide some foundational network characteristics for further designing computational strategies to predict novel drug targets and drug repurposing. PMID:25861037

  16. A comparative study of disease genes and drug targets in the human protein interactome.

    PubMed

    Sun, Jingchun; Zhu, Kevin; Zheng, W; Xu, Hua

    2015-01-01

    Disease genes cause or contribute genetically to the development of the most complex diseases. Drugs are the major approaches to treat the complex disease through interacting with their targets. Thus, drug targets are critical for treatment efficacy. However, the interrelationship between the disease genes and drug targets is not clear. In this study, we comprehensively compared the network properties of disease genes and drug targets for five major disease categories (cancer, cardiovascular disease, immune system disease, metabolic disease, and nervous system disease). We first collected disease genes from genome-wide association studies (GWAS) for five disease categories and collected their corresponding drugs based on drugs' Anatomical Therapeutic Chemical (ATC) classification. Then, we obtained the drug targets for these five different disease categories. We found that, though the intersections between disease genes and drug targets were small, disease genes were significantly enriched in targets compared to their enrichment in human protein-coding genes. We further compared network properties of the proteins encoded by disease genes and drug targets in human protein-protein interaction networks (interactome). The results showed that the drug targets tended to have higher degree, higher betweenness, and lower clustering coefficient in cancer Furthermore, we observed a clear fraction increase of disease proteins or drug targets in the near neighborhood compared with the randomized genes. The study presents the first comprehensive comparison of the disease genes and drug targets in the context of interactome. The results provide some foundational network characteristics for further designing computational strategies to predict novel drug targets and drug repurposing.

  17. Hormones and the Resistance of Women to Paracoccidioidomycosis

    PubMed Central

    Shankar, Jata; Restrepo, Angela; Clemons, Karl V.; Stevens, David A.

    2011-01-01

    Summary: Paracoccidioidomycosis, one of the most important endemic and systemic mycoses in Latin America, presents several clinical pictures. Epidemiological studies indicate a striking rarity of disease (but not infection) in females, but only during the reproductive years. This suggested a hormonal interaction between female hormones and the etiologic dimorphic fungus Paracoccidioides brasiliensis. Many fungi have been shown to use hormonal (pheromonal) fungal molecules for intercellular communication, and there are increasing numbers of examples of interactions between mammalian hormones and fungi, including the specific binding of mammalian hormones by fungal proteins, and suggestions of mammalian hormonal modulation of fungal behavior. This suggests an evolutionary conservation of hormonal receptor systems. We recount studies showing the specific hormonal binding of mammalian estrogen to proteins in P. brasiliensis and an action of estrogen to specifically block the transition from the saprophytic form to the invasive form of the fungus in vitro. This block has been demonstrated to occur in vivo in animal studies. These unique observations are consistent with an estrogen-fungus receptor-mediated effect on pathogenesis. The fungal genes responsive to estrogen action are under study. PMID:21482727

  18. Brain imaging in the study of Alzheimer's disease.

    PubMed

    Reiman, Eric M; Jagust, William J

    2012-06-01

    Over the last 20 years, there has been extraordinary progress in brain imaging research and its application to the study of Alzheimer's disease (AD). Brain imaging researchers have contributed to the scientific understanding, early detection and tracking of AD. They have set the stage for imaging techniques to play growing roles in the clinical setting, the evaluation of disease-modifying treatments, and the identification of demonstrably effective prevention therapies. They have developed ground-breaking methods, including positron emission tomography (PET) ligands to measure fibrillar amyloid-β (Aβ) deposition, new magnetic resonance imaging (MRI) pulse sequences, and powerful image analysis techniques, to help in these endeavors. Additional work is needed to develop even more powerful imaging methods, to further clarify the relationship and time course of Aβ and other disease processes in the predisposition to AD, to establish the role of brain imaging methods in the clinical setting, and to provide the scientific means and regulatory approval pathway needed to evaluate the range of promising disease-modifying and prevention therapies as quickly as possible. Twenty years from now, AD may not yet be a distant memory, but the best is yet to come. Copyright © 2011 Elsevier Inc. All rights reserved.

  19. Relation of cerebral vessel disease to Alzheimer's disease dementia and cognitive function in elderly people: a cross-sectional study.

    PubMed

    Arvanitakis, Zoe; Capuano, Ana W; Leurgans, Sue E; Bennett, David A; Schneider, Julie A

    2016-08-01

    Few data on the pathology of cerebral vessel disease, dementia, and cognition are available. We examined the association of cerebral atherosclerosis and arteriolosclerosis neuropathology with probable and possible Alzheimer's disease dementia and cognitive function. This cross-sectional study included men and women aged 65 years or older who had yearly clinical assessments and had agreed to brain autopsy at the time of death, as part of one of two cohort studies of ageing (The Religious Orders Study and the Rush Memory and Aging Project). Individuals without dementia or with Alzheimer's disease dementia, and with complete neuropathological data, are included in our analyses. We used neuropsychological data proximate to death to create summary measures of global cognition and cognitive domains. Clinical data recorded between 1994 and 2015 were used to determine presence of Alzheimer's disease dementia. Systematic neuropathological assessments documented the severity of cerebral large vessel (atherosclerosis) and small vessel (arteriolosclerosis) disease. By use of regression analyses adjusted for demographics, gross and microscopic infarcts, and Alzheimer's disease pathology, we examined associations of vessel disease severity (mild, moderate, and severe) with odds of probable and possible Alzheimer's disease dementia and cognitive function. Study enrolment began in January, 1994, and two cohort studies are ongoing. 1143 individuals were included in our analyses (median age at death 88·8 years; 478 [42%] with Alzheimer's disease dementia). Moderate-to-severe atherosclerosis was present in 445 (39%) individuals, and arteriolosclerosis in 401 (35%) individuals. Each level increase in the severity of atherosclerosis or arteriolosclerosis was associated with significantly higher odds of Alzheimer's disease dementia (odds ratio [OR] for atherosclerosis 1·33, 95% CI 1·11-1·58; OR for arteriolosclerosis 1·20, 1·04-1·40). Atherosclerosis was associated with lower

  20. Integration of Spatial and Social Network Analysis in Disease Transmission Studies

    PubMed Central

    Root, Elisabeth D; Giebultowicz, Sophia; Ali, Mohammad; Perez-Heydrich, Carolina; Yunus, Mohammad

    2013-01-01

    This study presents a case study of how social network and spatial analytical methods can be used simultaneously for disease transmission modeling. The paper first reviews strategies employed in previous studies and then offers the example of transmission of two bacterial diarrheal diseases in rural Bangladesh. The goal is to understand how diseases vary socially above and beyond the effects of the local neighborhood context. Patterns of cholera and shigellosis incidence are analyzed in space and within kinship-based social networks in Matlab, Bangladesh. Data include a spatially referenced longitudinal demographic database which consists of approximately 200,000 people and laboratory-confirmed cholera and shigellosis cases from 1983 to 2003. Matrices are created of kinship ties between households using a complete network design and distance matrices are also created to model spatial relationships. Moran's I statistics are calculated to measure clustering within both social and spatial matrices. Combined spatial effects-spatial disturbance models are built to simultaneously analyze spatial and social effects while controlling for local environmental context. Results indicate that cholera and shigellosis always clusters in space and only sometimes within social networks. This suggests that the local environment is most important for understanding transmission of both diseases however kinship-based social networks also influence their transmission. Simultaneous spatial and social network analysis can help us better understand disease transmission and this study has offered several strategies on how. PMID:24163443

  1. Fungal diseases: could nanostructured drug delivery systems be a novel paradigm for therapy?

    PubMed Central

    Voltan, Aline Raquel; Quindós, Guillermo; Alarcón, Kaila P Medina; Fusco-Almeida, Ana Marisa; Mendes-Giannini, Maria José Soares; Chorilli, Marlus

    2016-01-01

    Invasive mycoses are a major problem for immunocompromised individuals and patients in intensive care units. Morbidity and mortality rates of these infections are high because of late diagnosis and delayed treatment. Moreover, the number of available antifungal agents is low, and there are problems with toxicity and resistance. Alternatives for treating invasive fungal infections are necessary. Nanostructured systems could be excellent carriers for antifungal drugs, reducing toxicity and targeting their action. The use of nanostructured systems for antifungal therapy began in the 1990s, with the appearance of lipid formulations of amphotericin B. This review encompasses different antifungal drug delivery systems, such as liposomes, carriers based on solid lipids and nanostructure lipids, polymeric nanoparticles, dendrimers, and others. All these delivery systems have advantages and disadvantages. Main advantages are the improvement in the antifungal properties, such as bioavailability, reduction in toxicity, and target tissue, which facilitates innovative therapeutic techniques. Conversely, a major disadvantage is the high cost of production. In the near future, the use of nanosystems for drug delivery strategies can be used for delivering peptides, including mucoadhesive systems for the treatment of oral and vaginal candidiasis. PMID:27540288

  2. Design of PREVENCION: a population-based study of cardiovascular disease in Peru.

    PubMed

    Medina-Lezama, Josefina; Chirinos, Julio A; Zea Díaz, Humberto; Morey, Oscar; Bolanos, Juan F; Munoz-Atahualpa, Edgar; Chirinos-Pacheco, Julio

    2005-11-02

    Latin America is undergoing the epidemiologic transition that occurred earlier in developed countries, and is likely to face a gigantic epidemic of heart disease in the next few years unless urgent action is taken. The first essential component of any effective cardiovascular disease (CVD) control program is to establish reliable estimates of cardiovascular disease-related morbidity and mortality. However, such data from population-based studies in Latin America are still lacking. In this paper, we present the design and operation of PREVENCION (Estudio Peruano de Prevalencia de Enfermedades Cardiovasculares, for Peruvian Study of the Prevalence of Cardiovascular diseases). PREVENCION is an ongoing population-based study on a representative sample of the civilian non-institutionalized population of the second largest city in Peru. Its population is comparable to the rest of the Peruvian urban population and closely resembles other Latin American populations in countries such as Bolivia and Ecuador. Our study will contribute to the enormous task of understanding and preventing CVD in Latin America.

  3. Infections as a risk factor for Parkinson's disease: a case-control study.

    PubMed

    Vlajinac, Hristina; Dzoljic, Eleonora; Maksimovic, Jadranka; Marinkovic, Jelena; Sipetic, Sandra; Kostic, Vladimir

    2013-05-01

    The etiology of Parkinson's disease (PD) is unknown. The aim of the study was to test the hypothesis that some infectious diseases are related to the occurrence of PD. The case-control study, conducted in Belgrade during the period 2001-2005, comprised 110 subjects diagnosed for the first time as PD cases, and 220 controls chosen among patients with degenerative joint disease and some diseases of the digestive tract. According to logistic regression analysis, PD was significantly related to mumps [odds ratio adjusted on occupation and family history of PD (aOR) = 7.86, 95% confidence interval (CI) = 3.77-16.36], scarlet fever (aOR = 12.18, 95% CI = 1.97-75.19), influenza (aOR = 8.01, 95% CI = 4.61-13.92), whooping cough (aOR = 19.90, 95% CI = 2.07-190.66) and herpes simplex infections (aOR = 11.52, 95% CI = 2.25-58.89). Tuberculosis, measles and chicken pox were not associated with PD. Other infectious diseases we asked for were not reported (12 diseases), or were too rare (four diseases) to be analysed. The results obtained are in line with the suggestion that some infectious diseases may play a role in the development of PD.

  4. Wide dispersal of aphid-pathogenic Entomophthorales among aphids relies upon migratory alates.

    PubMed

    Feng, Ming-Guang; Chen, Chun; Chen, Bin

    2004-05-01

    Entomophthoralean mycoses are of general importance in the natural control of aphids, but mechanisms involved in their dissemination are poorly understood. Despite several possible means of fungal survival, the dispersal of the mycoses in aphids has never been related to the flight of their migratory alates that are able to locate suitable host plants. In this study, aphid-pathogenic fungi proved to be widely disseminated among various aphids by their alates through migratory flight based on the following findings. First, up to 36.6% of the 7139 migratory alates (including nine species of vegetable or cereal aphids) trapped from air > 30 m above the ground in three provinces of China were found bearing eight species of fungal pathogens. Of those, six were aphid-specific Entomophthorales dominated in individual cases by Pandora neoaphidis, which occurs globally but has no resting spores discovered to date. Secondly, infected alates were confirmed to be able to fly for hours, to initiate colonies on plants after flight and to transmit fungal infection to their offspring in a laboratory experiment, in which 238 Sitobion avenae alates were individually flown in a computer-monitoring flight mill system after exposure to a spore shower of P. neoaphidis and then allowed to colonize host plants.

  5. Rheumatic Disease among Oklahoma Tribal Populations: A Cross-Sectional Study

    PubMed Central

    Gaddy, Jasmine R.; Vista, Evan S.; Robertson, Julie M.; Dedeke, Amy B.; Roberts, Virginia C.; Klein, Wendy S.; Levin, Jeremy H.; Mota, Fabio H.; Cooper, Tina M.; Grim, Gloria A.; Khan, Sohail; James, Judith A.

    2012-01-01

    Objectives Rheumatic diseases cause significant morbidity within American Indian populations. Clinical disease presentations, as well as historically associated autoantibodies, are not always useful in making a rapid diagnosis or assessing prognosis. The purpose of this study is to identify autoantibody associations among Oklahoma tribal populations with rheumatic disease. Methods Oklahoma tribal members (110 rheumatic disease patients and 110 controls) were enrolled at tribal-based clinics. Rheumatic disease patients (suspected or confirmed diagnosis) were assessed by a rheumatologist for clinical features, disease criteria, and activity measures. Blood samples were collected and tested for common rheumatic disease autoantibodies (ANA, anti-CCP, anti-RF, anti-Ro, anti-La, anti-Sm, anti-nRNP, anti-Ribosomal P, anti-dsDNA, and anti-cardiolipins). Results In patients with suspected systemic rheumatic diseases, 72% satisfied ACR classification: 40 (36%) rheumatoid arthritis, 16 (15%) systemic lupus erythematosus, 8 (7%) scleroderma, 8 (7%) osteoarthritis, 4 (4%) fibromyalgia, 2 (2%) seronegative spondyloarthropathy, 1 Sjogrens syndrome, and 1 sarcoidosis. When compared to controls, RA patient sera were more likely to contain anti-CCP (55% vs 2%, p<0.001) or anti-RF IgM antibodies (57% vs 10%, p<0.001); however, the difference was greater for anti-CCP. Anti-CCP positivity conferred higher disease activity scores (DAS28 5.6 vs 4.45, p=0.021) while anti-RF positivity did not (DAS28 5.36 vs 4.64, p=0.15). Anticardiolipin antibodies (25% or rheumatic disease paitents vs 10% of contros,; p=0.0022) and ANA (63% vs 21%, p<0.0001) were more common in rheumatic disease patients. Conclusion Anti-CCP may serve as a better RA biomarker in AI patients, while the clinical significance of increased frequency of aCLs needs further evaluation. PMID:22896022

  6. Rheumatic disease among Oklahoma tribal populations: a cross-sectional study.

    PubMed

    Gaddy, Jasmine R; Vista, Evan S; Robertson, Julie M; Dedeke, Amy B; Roberts, Virginia C; Klein, Wendy S; Levin, Jeremy H; Mota, Fabio H; Cooper, Tina M; Grim, Gloria A; Khan, Sohail; James, Judith A

    2012-10-01

    Rheumatic diseases cause significant morbidity within American Indian populations. Clinical disease presentations, as well as historically associated autoantibodies, are not always useful in making a rapid diagnosis or assessing prognosis. The purpose of our study was to identify autoantibody associations among Oklahoma tribal populations with rheumatic disease. Oklahoma tribal members (110 patients with rheumatic disease and 110 controls) were enrolled at tribal-based clinics. Patients with rheumatic disease (suspected or confirmed diagnosis) were assessed by a rheumatologist for clinical features, disease criteria, and activity measures. Blood samples were collected and tested for common rheumatic disease autoantibodies [antinuclear antibody (ANA), anti-cyclic citrullinated peptide antibodies (anti-CCP), rheumatoid factor (RF), anti-Ro, anti-La, anti-Sm, anti-nRNP, anti-ribosomal P, anti-dsDNA, and anticardiolipins]. In patients with suspected systemic rheumatic diseases, 72% satisfied American College of Rheumatology classification criteria: 40 (36%) had rheumatoid arthritis (RA), 16 (15%) systemic lupus erythematosus, 8 (7%) scleroderma, 8 (7%) osteoarthritis, 4 (4%) fibromyalgia, 2 (2%) seronegative spondyloarthropathy, 1 Sjögren's syndrome, and 1 sarcoidosis. Compared to controls, RA patient sera were more likely to contain anti-CCP (55% vs 2%; p < 0.001) or RF IgM antibodies (57% vs 10%; p < 0.001); however, the difference was greater for anti-CCP. Anti-CCP positivity conferred higher disease activity scores (DAS28 5.6 vs 4.45; p = 0.021) while RF positivity did not (DAS28 5.36 vs 4.64; p = 0.15). Anticardiolipin antibodies (25% of rheumatic disease patients vs 10% of controls; p = 0.0022) and ANA (63% vs 21%; p < 0.0001) were more common in rheumatic disease patients. Anti-CCP may serve as a more specific RA biomarker in American Indian patients, while the clinical significance of increased frequency of anticardiolipin antibodies needs further evaluation.

  7. Burden of respiratory disease in Thailand: Results from the APBORD observational study

    PubMed Central

    Thanaviratananich, Sanguansak; Cho, Sang-Heon; Ghoshal, Aloke Gopal; Muttalif, Abdul Razak Bin Abdul; Lin, Horng-Chyuan; Pothirat, Chaicharn; Chuaychoo, Benjamas; Aeumjaturapat, Songklot; Bagga, Shalini; Faruqi, Rab; Sajjan, Shiva; Baidya, Santwona; Wang, De Yun

    2016-01-01

    Abstract Asia-Pacific Burden of Respiratory Diseases (APBORD) was a cross-sectional, observational study examining the burden of respiratory disease in adults across 6 Asia-Pacific countries. This article reports symptoms, healthcare resource utilization (HCRU), work impairment and cost burden associated with allergic rhinitis (AR), asthma, chronic obstructive pulmonary disease (COPD), and rhinosinusitis in Thailand. Consecutive participants aged ≥18 years with a primary diagnosis of AR, asthma, COPD, or rhinosinusitis were enrolled at 4 hospitals in Thailand during October 2012 and October 2013. Participants completed a survey detailing respiratory symptoms, HCRU, work productivity, and activity impairment. Locally sourced unit costs were used in the calculation of total costs. The study enrolled 1000 patients. The most frequent primary diagnosis was AR (44.2%), followed by rhinosinusitis (24.1%), asthma (23.7%), and COPD (8.0%). Overall, 316 (31.6%) of patients were diagnosed with some combination of the 4 diseases. Blocked nose or congestion (17%) and cough or coughing up phlegm (16%) were the main reasons for the current medical visit. The mean annual cost for patients with a respiratory disease was US$1495 (SD 3133) per patient. Costs associated with work productivity loss were the principal contributor for AR and rhinosinusitis patients while medication costs were the highest contributor for asthma and COPD patients. The study findings highlight the burden associated with 4 prevalent respiratory diseases in Thailand. Thorough investigation of concomitant conditions and improved disease management may help to reduce the burden of these respiratory diseases. PMID:27428193

  8. UK investments in global infectious disease research 1997-2010: a case study.

    PubMed

    Head, Michael G; Fitchett, Joseph R; Cooke, Mary K; Wurie, Fatima B; Hayward, Andrew C; Atun, Rifat

    2013-01-01

    Infectious diseases account for 15 million deaths per year worldwide, and disproportionately affect young people, elderly people, and the poorest sections of society. We aimed to describe the investments awarded to UK institutions for infectious disease research. We systematically searched databases and websites for information on research studies from funding institutions and created a comprehensive database of infectious disease research projects for the period 1997-2010. We categorised studies and funding by disease, cross-cutting theme, and by a research and development value chain describing the type of science. Regression analyses were reported with Spearman's rank correlation coefficient to establish the relation between research investment, mortality, and disease burden as measured by disability-adjusted life years (DALYs). We identified 6170 funded studies, with a total research investment of UK£2·6 billion. Studies with a clear global health component represented 35·6% of all funding (£927 million). By disease, HIV received £461 million (17·7%), malaria £346 million (13·3%), tuberculosis £149 million (5·7%), influenza £80 million (3·1%), and hepatitis C £60 million (2·3%). We compared funding with disease burden (DALYs and mortality) to show low levels of investment relative to burden for gastrointestinal infections (£254 million, 9·7%), some neglected tropical diseases (£184 million, 7·1%), and antimicrobial resistance (£96 million, 3·7%). Virology was the highest funded category (£1 billion, 38·4%). Leading funding sources were the Wellcome Trust (£688 million, 26·4%) and the Medical Research Council (£673 million, 25·8%). Research funding has to be aligned with prevailing and projected global infectious disease burden. Funding agencies and industry need to openly document their research investments to redress any inequities in resource allocation. None. Copyright © 2013 Elsevier Ltd. All rights reserved.

  9. Adult asthma disease management: an analysis of studies, approaches, outcomes, and methods.

    PubMed

    Maciejewski, Matthew L; Chen, Shih-Yin; Au, David H

    2009-07-01

    Disease management has been implemented for patients with asthma in various ways. We describe the approaches to and components of adult asthma disease-management interventions, examine the outcomes evaluated, and assess the quality of published studies. We searched the MEDLINE, EMBASE, CINAHL, PsychInfo, and Cochrane databases for studies published in 1986 through 2008, on adult asthma management. With the studies that met our inclusion criteria, we examined the clinical, process, medication, economic, and patient-reported outcomes reported, and the study designs, provider collaboration during the studies, and statistical methods. Twenty-nine articles describing 27 studies satisfied our inclusion criteria. There was great variation in the content, extent of collaboration between physician and non-physician providers responsible for intervention delivery, and outcomes examined across the 27 studies. Because of limitations in the design of 22 of the 27 studies, the differences in outcomes assessed, and the lack of rigorous statistical adjustment, we could not draw definitive conclusions about the effectiveness or cost-effectiveness of the asthma disease-management programs or which approach was most effective. Few well-designed studies with rigorous evaluations have been conducted to evaluate disease-management interventions for adults with asthma. Current evidence is insufficient to recommend any particular intervention.

  10. Ocular Pseudoexfoliation and Cardiovascular Disease: A National Cross-Section Comparison Study

    PubMed Central

    French, Dustin D; Margo, Curtis E; Harman, Lynn E

    2012-01-01

    Background: Pseudoexfoliation is a systemic disorder characterized by the deposition of extracellular matrix material. The microfibrillar material that gives rise to the condition is visible clinically in the anterior segment of the eye, and is also found in other tissues, including blood vessels, skin, gallbladder, kidneys, lungs, and heart. Aims: The present study aims to determine whether ocular pseudoexfoliation is associated with selected cardiovascular diseases. Materials and Methods: A cross-section comparison study was conducted with the help of the Veterans Health Administration databases, using the International Classification of Diseases, Ninth revision, Clinical Modification for pseudoexfoliation of lens capsule and pseudoexfoliation glaucoma. Selected cardiovascular diseases and risk factors for cardiovascular disease were identified using the appropriate medical codes. Patients with primary open-angle glaucoma, chronic sinusitis, and benign prostatic hyperplasia served as the comparison groups. A logistic regression model was used to control for age, gender, race, and major cardiovascular risk factors. Results: There were 6,046 case patients with pseudoexfoliation; approximately half were diagnosed with pseudoexfoliation glaucoma. Various stages of ischemic heart disease, cardiomyopathy, and aortic aneurysm were significantly associated with ocular pseudoexfoliation, after controlling for age, gender, race, and major cardiovascular risk factors. Associations, in general, were less demonstrable relative to the primary open-angle glaucoma comparison group. Conclusion: Associations of ocular pseudoexfoliation with cardiovascular diseases were generally fewer and less pronounced when compared to patients with primary open-angle glaucoma. These results add to the results of earlier studies, which suggest that open-angle glaucoma itself might be a risk factor for certain cardiovascular disorders. PMID:23112968

  11. The obesity paradox and incident cardiovascular disease: A population-based study.

    PubMed

    Chang, Virginia W; Langa, Kenneth M; Weir, David; Iwashyna, Theodore J

    2017-01-01

    Prior work suggests that obesity may confer a survival advantage among persons with cardiovascular disease (CVD). This obesity "paradox" is frequently studied in the context of prevalent disease, a stage in the disease process when confounding from illness-related weight loss and selective survival are especially problematic. Our objective was to examine the association of obesity with mortality among persons with incident CVD, where biases are potentially reduced, and to compare these findings with those based on prevalent disease. We used data from the Health and Retirement Study, an ongoing, nationally representative longitudinal survey of U.S. adults age 50 years and older initiated in 1992 and linked to Medicare claims. Cox proportional hazard models were used to estimate the association between weight status and mortality among persons with specific CVD diagnoses. CVD diagnoses were established by self-reported survey data as well as Medicare claims. Prevalent disease models used concurrent weight status, and incident disease models used pre-diagnosis weight status. We examined myocardial infarction, congestive heart failure, stroke, and ischemic heart disease. A strong and significant obesity paradox was consistently observed in prevalent disease models (hazard of death 18-36% lower for obese class I relative to normal weight), replicating prior findings. However, in incident disease models of the same conditions in the same dataset, there was no evidence of this survival benefit. Findings from models using survey- vs. claims-based diagnoses were largely consistent. We observed an obesity paradox in prevalent CVD, replicating prior findings in a population-based sample with longer-term follow-up. In incident CVD, however, we did not find evidence of a survival advantage for obesity. Our findings do not offer support for reevaluating clinical and public health guidelines in pursuit of a potential obesity paradox.

  12. The obesity paradox and incident cardiovascular disease: A population-based study

    PubMed Central

    Langa, Kenneth M.; Weir, David; Iwashyna, Theodore J.

    2017-01-01

    Background Prior work suggests that obesity may confer a survival advantage among persons with cardiovascular disease (CVD). This obesity “paradox” is frequently studied in the context of prevalent disease, a stage in the disease process when confounding from illness-related weight loss and selective survival are especially problematic. Our objective was to examine the association of obesity with mortality among persons with incident CVD, where biases are potentially reduced, and to compare these findings with those based on prevalent disease. Methods We used data from the Health and Retirement Study, an ongoing, nationally representative longitudinal survey of U.S. adults age 50 years and older initiated in 1992 and linked to Medicare claims. Cox proportional hazard models were used to estimate the association between weight status and mortality among persons with specific CVD diagnoses. CVD diagnoses were established by self-reported survey data as well as Medicare claims. Prevalent disease models used concurrent weight status, and incident disease models used pre-diagnosis weight status. Results We examined myocardial infarction, congestive heart failure, stroke, and ischemic heart disease. A strong and significant obesity paradox was consistently observed in prevalent disease models (hazard of death 18–36% lower for obese class I relative to normal weight), replicating prior findings. However, in incident disease models of the same conditions in the same dataset, there was no evidence of this survival benefit. Findings from models using survey- vs. claims-based diagnoses were largely consistent. Conclusion We observed an obesity paradox in prevalent CVD, replicating prior findings in a population-based sample with longer-term follow-up. In incident CVD, however, we did not find evidence of a survival advantage for obesity. Our findings do not offer support for reevaluating clinical and public health guidelines in pursuit of a potential obesity paradox

  13. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

    PubMed Central

    Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

    2016-01-01

    Summary Background Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. Methods This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34 819 patients (19 713 with Crohn's disease, 14 683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype–phenotype associations across 156 154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. Findings After quality control, the primary analysis included 29 838 patients (16 902 with Crohn's disease, 12 597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for

  14. Study of Porphyromonas gingivalis in periodontal diseases: A systematic review and meta-analysis.

    PubMed

    Rafiei, Mohammad; Kiani, Faezeh; Sayehmiri, Fatemeh; Sayehmiri, Kourosh; Sheikhi, Abdolkarim; Zamanian Azodi, Mona

    2017-01-01

    Background : The mouth cavity hosts various types of anaerobic bacteria including Porphyromonas gingivalis , which causes periodontal inflammatory diseases. P. gingivalis is a gram-negative oral anaerobe and is considered as a main etiological factor in periodontal diseases. Several studies have reported a relationship between P. gingivalis in individuals with periodontal diseases and a critical role of this bacterium in the pathogenesis of periodontal diseases. The present study aimed at estimating this probability using a meta-analysis. Methods : We searched several databases including PubMed, Scopus, Google Scholar, and Web of Science to identify case-control studies addressing the relationship between P. gingivalis with periodontal diseases. A total of 49 reports published from different countries from 1993 to 2014 were included in this study. I² (heterogeneity index) statistics were calculated to examine heterogeneity. Data were analyzed using STATA Version 11. Results : After a detailed analysis of the selected articles, 49 case-control studies with 5924 individuals fulfilled the inclusion criteria for the meta-analysis. The healthy controls included 2600 healthy individuals with a Mean±SD age of 36.56±7.45 years. The periodontal diseases group included 3356 patients with a mean age of 43.62±8.35 years. There was a statistically significant difference between P. gingivalis in periodontal patients and healthy controls; 9.24 (95% CI: 5.78 to 14.77; P = 0.000). In the other word, there was a significant relationship between the presence of P. gingivalis and periodontal diseases. Conclusion : Analyzing the results of the present study, we found a strong association between the presence of P. gingivalis and periodontal diseases. This result suggests that another research is needed to further assess this subject.

  15. A retrospective study of canine persistent nasal disease: 80 cases (1998-2003).

    PubMed

    Meler, Erika; Dunn, Marilyn; Lecuyer, Manon

    2008-01-01

    Persistent canine nasal disease is a common complaint in small animal practice; however, an etiologic diagnosis can be difficult to establish. The aim of this retrospective study was to determine the percentage of cases for which the etiology was determined in our hospital population. Medical records from 80 dogs met the criteria of inclusion in the study. Nonspecific rhinitis was identified in 23.7% of cases. Other diagnoses were neoplasia (15.0%), fungal infection (nasal aspergillosis) (8.7%), cleft palate (8.7%), periodontal disease (4.0%), parasites (1.3%), foreign body (1.3%), and primary bacterial disease (1.3%). A definitive diagnosis could not be established in 36.3% of cases. Dogs with neoplastic and mycotic diseases often presented with severe radiographic and rhinoscopic lesions. Despite a systematic approach, numerous cases went undiagnosed. The use of advanced imaging should increase our ability to obtain an etiologic diagnosis in canine nasal disease.

  16. Design and analysis of multiple diseases genome-wide association studies without controls.

    PubMed

    Chen, Zhongxue; Huang, Hanwen; Ng, Hon Keung Tony

    2012-11-15

    In genome-wide association studies (GWAS), multiple diseases with shared controls is one of the case-control study designs. If data obtained from these studies are appropriately analyzed, this design can have several advantages such as improving statistical power in detecting associations and reducing the time and cost in the data collection process. In this paper, we propose a study design for GWAS which involves multiple diseases but without controls. We also propose corresponding statistical data analysis strategy for GWAS with multiple diseases but no controls. Through a simulation study, we show that the statistical association test with the proposed study design is more powerful than the test with single disease sharing common controls, and it has comparable power to the overall test based on the whole dataset including the controls. We also apply the proposed method to a real GWAS dataset to illustrate the methodologies and the advantages of the proposed design. Some possible limitations of this study design and testing method and their solutions are also discussed. Our findings indicate that the proposed study design and statistical analysis strategy could be more efficient than the usual case-control GWAS as well as those with shared controls. Copyright © 2012 Elsevier B.V. All rights reserved.

  17. [Comparative study of infectious diseases in immigrant children from various countries].

    PubMed

    Huerga Aramburu, H; López-Vélez, R

    2004-01-01

    Immigrants have a higher risk of contracting some infectious diseases. The aim of this study was to determine and compare the morbidity profile of immigrant children according to their country of origin. We performed a descriptive study of all immigrants aged less than 14 years old who attended the Tropical Medicine Unit of the Ramon y Cajal Hospital in Madrid between 1989 and 2001. A total of 170 children were included (73 % from Africa, 19 % from Latin America, and 5 % from Asia). Seventy-five percent had at least one infectious disease (78 % of Africans and 62 % of Latin Americans) and 27 % were co-infected (> 2 pathogenic agents). The proportion of healthy children was higher (p < 0.05) among Latin Americans (21 %) than among Africans (9 %). The most frequent infectious diseases were malaria (35 %), intestinal parasites (48 %), filariasis (23 %), and viral hepatitis (19 %). Malaria, filariasis and hepatitis were more frequent in Africans than in Americans (p < 0.05). Other helminthic infections (15 %) were more frequent in Americans. In both groups intestinal parasites and tuberculosis (6 %) were prevalent. Of the 36 (21 %) asymptomatic children, 53 % had at least one infectious disease. The most frequently diagnosed diseases in Africans were intestinal parasitosis (35 %), malaria (7 %), cured hepatitis B (15 %), filariasis (12 %) and superficial mycosis (4 %). The most frequent infectious diseases in Latin Americans were intestinal parasitosis (38 %) and visceral toxocariasis (25 %). Infectious diseases and co-infections are frequent in immigrant children, even in those who are asymptomatic. We propose screening of certain infectious diseases in these children according to their country of origin and their length of residence in Spain.

  18. Autism and Autoimmune Disease: A Family Study

    ERIC Educational Resources Information Center

    Money, John; And Others

    1971-01-01

    Described in a family in which the youngest boy has early infantile autism, Addison's disease, and moniliasis and two older boys have autoimmune disease with hypoparathyroidism, Addison's disease, moniliasis, and either alopecia totalis or diabetes mellitus, while the oldest boy and parents are symptom free. (KW)

  19. Comparative study on the National Renal Disease Registry in America, England and Iran.

    PubMed

    Ajami, Sima; Askarianzadeh, Mahdi; Saghaeiannejad-Isfahani, Sakineh; Mortazavi, Mojgan; Ehteshami, Asghar

    2014-01-01

    A disease registry is a database that includes information about people diagnosed with specific types of diseases. The registry collects information that can be used for capturing, managing, and organizing specific information for patients. The aim of this study was to identify and compare the National Renal Disease Registry (NRDR) in selected countries including the United States, United Kingdom, and Iran. Retrieval of data of the NRDR performed through scholars responsible in related agencies, including the Ministry of Health and Medical Education, and Renal Disease charity, and data registries in the United States, United Kingdom, and Iran. This research was an applied and descriptive, comparative study. The study population consisted of the National Renal Disease Registry of the selected countries including the United States, United Kingdom, and Iran, from which data were collected using forms that were designed according to the study objectives. Sources of data were researchers, scholars responsible in related agencies, including the Ministry of Health and Medical Education, and Renal Disease charity, data registries, articles, books, journals, databases, websites, and related documents. Data were gathered through phone, e-mail, study, observation, and interview. The researchers collected data for each country based on the study objectives and then put them in comparative tables. Data were analyzed by descriptive, comparative, and theoretical methods. There is no NRDR in Iran to report the short- and long-term results of renal disease. Most of the renal transplant teams report their own results as single-center experiences. America and Britain have pre-eminent national registry of renal disease, compared to other countries. The Iranian Society of Nephrology should be actively involved to create a National Renal Registry in Iran. The registry should have representatives from the universities, government, armed forces, and private sectors. Researchers proposed

  20. The burden of mental disorders: a comparison of methods between the Australian burden of disease studies and the Global Burden of Disease study.

    PubMed Central

    Vos, T.; Mathers, C. D.

    2000-01-01

    The national and Victorian burden of disease studies in Australia set out to examine critically the methods used in the Global Burden of Disease study to estimate the burden of mental disorders. The main differences include the use of a different set of disability weights allowing estimates in greater detail by level of severity, adjustments for comorbidity between mental disorders, a greater number of mental disorders measured, and modelling of substance use disorders, anxiety disorders and bipolar disorder as chronic conditions. Uniform age-weighting in the Australian studies produces considerably lower estimates of the burden due to mental disorders in comparison with age-weighted disability-adjusted life years. A lack of follow-up data on people with mental disorders who are identified in cross-sectional surveys poses the greatest challenge in determining the burden of mental disorders more accurately. PMID:10885161

  1. Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study

    DTIC Science & Technology

    2017-10-01

    AWARD NUMBER: W81XWH-16-1-0741 TITLE: Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study ...2017 4. TITLE AND SUBTITLE Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study 5a. CONTRACT NUMBER...executive function in several pediatric populations, but has not been studied in the CHD population. 15. SUBJECT TERMS- 16. SECURITY CLASSIFICATION OF

  2. Case−Control Study of Risk Factors for Meningococcal Disease in Chile

    PubMed Central

    Matute, Isabel; González, Claudia; Delgado, Iris; Poffald, Lucy; Pedroni, Elena; Alfaro, Tania; Hirmas, Macarena; Nájera, Manuel; Gormaz, Ana; López, Darío; Loayza, Sergio; Ferreccio, Catterina; Gallegos, Doris; Fuentes, Rodrigo; Vial, Pablo; Aguilera, Ximena

    2017-01-01

    An outbreak of meningococcal disease with a case-fatality rate of 30% and caused by predominantly serogroup W of Neisseria meningitidis began in Chile in 2012. This outbreak required a case−control study to assess determinants and risk factors for infection. We identified confirmed cases during January 2012−March 2013 and selected controls by random sampling of the population, matched for age and sex, resulting in 135 case-patients and 618 controls. Sociodemographic variables, habits, and previous illnesses were studied. Analyses yielded adjusted odds ratios as estimators of the probability of disease development. Results indicated that conditions of social vulnerability, such as low income and overcrowding, as well as familial history of this disease and clinical histories, especially chronic diseases and hospitalization for respiratory conditions, increased the probability of illness. Findings should contribute to direction of intersectoral public policies toward a highly vulnerable social group to enable them to improve their living conditions and health. PMID:28628448

  3. Risk factors for benign breast disease: a 30-year cohort study.

    PubMed Central

    Hislop, T G; Elwood, J M

    1981-01-01

    Data on the menstrual history, family history and degree of obesity of 1374 Vancouver nursing students were collected in 1945 and from 1947 to 1956. In 1979, 768 of these women were located; 726 (94%) responded and participated in a follow-up study, providing information on their subsequent medical history and on breast-related problems. No major differences were found between the early histories of these participants and those who were not located or did not respond. Among the respondents 215 gave a history of symptoms compatible with benign breast disease; in 107 this diagnosis was confirmed by biopsy. By age 50 the cumulative risk for benign breast disease was 17% for biopsied and 31% for symptomatic disease. Biopsied benign breast disease was associated with premenstrual breast discomfort, irregular menses, a history of abortions, a family history of both benign and malignant breast disease, lack of use of oral contraceptives, a low index of obesity and small breasts, obesity and breast size being independent. Factors associated with symptomatic benign breast disease were usually associated with a greater likelihood of biopsy for symptomatic disease; hence, the relative risks for biopsied disease were generally greater than those for symptomatic disease. Although the risk factors for benign breast disease differ from those for breast cancer, the findings are consistent with the hypothesis of excessive circulating estrogen. PMID:7459788

  4. Molecular and cellular responses of the pathogenic fungus Lomentospora prolificans to the antifungal drug voriconazole.

    PubMed

    Pellon, Aize; Ramirez-Garcia, Andoni; Buldain, Idoia; Antoran, Aitziber; Rementeria, Aitor; Hernando, Fernando L

    2017-01-01

    The filamentous fungus Lomentospora (Scedosporium) prolificans is an emerging opportunistic pathogen associated with fatal infections in patients with disturbed immune function. Unfortunately, conventional therapies are hardly of any use against this fungus due to its intrinsic resistance. Therefore, we performed an integrated study of the L. prolificans responses to the first option to treat these mycoses, namely voriconazole, with the aim of unveiling mechanisms involved in the resistance to this compound. To do that, we used a wide range of techniques, including fluorescence and electron microscopy to study morphological alterations, ion chromatography to measure changes in cell-wall carbohydrate composition, and proteomics-based techniques to identify the proteins differentially expressed under the presence of the drug. Significantly, we showed drastic changes occurring in cell shape after voriconazole exposure, L. prolificans hyphae being shorter and wider than under control conditions. Interestingly, we proved that the architecture and carbohydrate composition of the cell wall had been modified in the presence of the drug. Specifically, L. prolificans constructed a more complex organelle with a higher presence of glucans and mannans. In addition to this, we identified several differentially expressed proteins, including Srp1 and heat shock protein 70 (Hsp70), as the most overexpressed under voriconazole-induced stress conditions. The mechanisms described in this study, which may be directly related to L. prolificans antifungal resistance or tolerance, could be used as targets to improve existing therapies or to develop new ones in order to successfully eliminate these mycoses.

  5. Does pregnancy change the disease course? A study in a European cohort of patients with inflammatory bowel disease.

    PubMed

    Riis, Lene; Vind, Ida; Politi, Patrizia; Wolters, Frank; Vermeire, Severine; Tsianos, Epameinondas; Freitas, João; Mouzas, Ioannis; Ruiz Ochoa, Victor; O'Morain, Colm; Odes, Selwyn; Binder, Vibeke; Moum, Bjørn; Stockbrügger, Reinhold; Langholz, Ebbe; Munkholm, Pia

    2006-07-01

    Inflammatory bowel disease (IBD) often affects patients in their fertile age. The aim of this study was to describe pregnancy outcome in a European cohort of IBD patients. As data are limited regarding the effect of pregnancy on disease course, our second objective was to investigate whether pregnancy influences disease course and phenotype in IBD patients. In a European cohort of IBD patients, a 10-yr follow-up was performed by scrutinizing patient files and approaching the patients with a questionnaire. The cohort comprised 1,125 patients, of whom 543 were women. Data from 173 female ulcerative colitis (UC) and 93 Crohn's disease (CD) patients form the basis for the present study. In all, 580 pregnancies, 403 occurring before and 177 after IBD was diagnosed, were reported. The rate of spontaneous abortion increased after IBD was diagnosed (6.5% vs. 13%, p = 0.005), whereas elective abortion was not significantly different. 48.6% of the patients took medication at the time of conception and 46.9% during pregnancy. The use of cesarean section increased after IBD diagnosis (8.1% vs 28.7% of pregnancies). CD patients pregnant during the disease course, did not differ from patients who were not pregnant during the disease course regarding the development of stenosis (37% vs 52% p = 0.13) and resection rates (mean number of resections 0.52 vs 0.66, p = 0.37). The rate of relapse decreased in the years following pregnancy in both UC (0.34 vs 0.18 flares/yr, p = 0.008) and CD patients (0.76 vs 0.12 flares/yr, p = 0.004). Pregnancy did not influence disease phenotype or surgery rates, but was associated with a reduced number of flares in the following years.

  6. A cross-sectional study of cardiorespiratory fitness and gallbladder disease.

    PubMed

    Li, Changqing; Mikus, Catherine; Ahmed, Ali; Hu, Gang; Xiong, Kaiyu; Zhang, Yimin; Sui, Xuemei

    2017-04-01

    To determine the association of different levels of cardiorespiratory fitness (CRF), an objective indicator of habitual physical activity, with gallbladder disease. In the Aerobics Center Longitudinal Study (ACLS) database, 41,528 men and 13,206 women aged 20-90 years, with body mass index of 18.5 or more and without history of cardiovascular disease and cancer, received a preventive examination at the Cooper Clinic in Dallas, Texas, between 1970 and 2003. CRF was quantified as maximal metabolic equivalents and classified as low, moderate, and high based on traditional ACLS cut points. Gallbladder disease was defined as physician-diagnosed gallbladder disease. When compared with low CRF, adjusted odds ratios and 95% confidence intervals for gallbladder disease for those with moderate and high CRF were 0.74 (0.55-0.99) and 0.59 (0.42-0.82), respectively when adjusted for all the potential confounders. Each one metabolic equivalent increment of CRF was associated with 10% lower odds of gallbladder disease in all participants (P for trend <.001), 13% lower in women (P for trend <.001), and 8% lower in men (P for trend = .08). The association was consistent across age, history of diabetes mellitus, and physical inactivity subgroups. CRF is inversely related to the prevalence of gallbladder disease among relatively healthy men and women in the ACLS cohort. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Association factor analysis between osteoporosis with cerebral artery disease: The STROBE study.

    PubMed

    Jin, Eun-Sun; Jeong, Je Hoon; Lee, Bora; Im, Soo Bin

    2017-03-01

    The purpose of this study was to determine the clinical association factors between osteoporosis and cerebral artery disease in Korean population. Two hundred nineteen postmenopausal women and men undergoing cerebral computed tomography angiography were enrolled in this study to evaluate the cerebral artery disease by cross-sectional study. Cerebral artery disease was diagnosed if there was narrowing of 50% higher diameter in one or more cerebral vessel artery or presence of vascular calcification. History of osteoporotic fracture was assessed using medical record, and radiographic data such as simple radiography, MRI, and bone scan. Bone mineral density was checked by dual-energy x-ray absorptiometry. We reviewed clinical characteristics in all patients and also performed subgroup analysis for total or extracranial/ intracranial cerebral artery disease group retrospectively. We performed statistical analysis by means of chi-square test or Fisher's exact test for categorical variables and Student's t-test or Wilcoxon's rank sum test for continuous variables. We also used univariate and multivariate logistic regression analyses were conducted to assess the factors associated with the prevalence of cerebral artery disease. A two-tailed p-value of less than 0.05 was considered as statistically significant. All statistical analyses were performed using R (version 3.1.3; The R Foundation for Statistical Computing, Vienna, Austria) and SPSS (version 14.0; SPSS, Inc, Chicago, Ill, USA). Of the 219 patients, 142 had cerebral artery disease. All vertebral fracture was observed in 29 (13.24%) patients. There was significant difference in hip fracture according to the presence or absence of cerebral artery disease. In logistic regression analysis, osteoporotic hip fracture was significantly associated with extracranial cerebral artery disease after adjusting for multiple risk factors. Females with osteoporotic hip fracture were associated with total calcified cerebral artery

  8. A retrospective study of cutaneous fungal infections in patients referred to Imam Reza Hospital of Mashhad, Iran during 2000-2011.

    PubMed

    Berenji, F; Mahdavi Sivaki, M; Sadabadi, F; Andalib Aliabadi, Z; Ganjbakhsh, M; Salehi, M

    2016-03-01

    Detection of agents responsible for cutaneous mycosis may be effective in the prevention of fungal infections from environmental and animal sources. With this background in mind, in this study, we aimed to identify the distribution of cutaneous mycotic infections in patients referred to Imam Reza Hospital of Mashhad, Iran during 2000- 2011. In total, 8694 patients suspected of superficial and cutaneous mycosis, referred to the Medical Mycology Laboratory of Imam Reza Hospital of Mashhad, Iran, were recruited during March 2000-2011 and were examined in terms of fungal infections. Of 8694 suspected patients, 3804 (43.75%) cases suffered from superficial and cutaneous mycosis. In total, 1936 (50.9%) patients were male, and 1868 (49.1%) were female. Malassezia infections (58.1%), dermatophytosis (33.1%), cutaneous candidiasis (6.8%), aspergillosis (1.6%), and saprophytic cutaneous mycosis (0.4%) were the most common infections. In this study, Malassezia infections were the most common superficial and cutaneous mycoses. Therefore, it seems essential to focus on the prevention of these infections in our society.

  9. A retrospective study of cutaneous fungal infections in patients referred to Imam Reza Hospital of Mashhad, Iran during 2000-2011

    PubMed Central

    Berenji, F; Mahdavi Sivaki, M; Sadabadi, F; Andalib Aliabadi, Z; Ganjbakhsh, M; Salehi, M

    2016-01-01

    Background and Purpose: Detection of agents responsible for cutaneous mycosis may be effective in the prevention of fungal infections from environmental and animal sources. With this background in mind, in this study, we aimed to identify the distribution of cutaneous mycotic infections in patients referred to Imam Reza Hospital of Mashhad, Iran during 2000- 2011. Materials and Methods: In total, 8694 patients suspected of superficial and cutaneous mycosis, referred to the Medical Mycology Laboratory of Imam Reza Hospital of Mashhad, Iran, were recruited during March 2000-2011 and were examined in terms of fungal infections. Results: Of 8694 suspected patients, 3804 (43.75%) cases suffered from superficial and cutaneous mycosis. In total, 1936 (50.9%) patients were male, and 1868 (49.1%) were female. Malassezia infections (58.1%), dermatophytosis (33.1%), cutaneous candidiasis (6.8%), aspergillosis (1.6%), and saprophytic cutaneous mycosis (0.4%) were the most common infections. Conclusion: In this study, Malassezia infections were the most common superficial and cutaneous mycoses. Therefore, it seems essential to focus on the prevention of these infections in our society. PMID:28681008

  10. Proteomics: a new approach to the study of disease.

    PubMed

    Chambers, G; Lawrie, L; Cash, P; Murray, G I

    2000-11-01

    The global analysis of cellular proteins has recently been termed proteomics and is a key area of research that is developing in the post-genome era. Proteomics uses a combination of sophisticated techniques including two-dimensional (2D) gel electrophoresis, image analysis, mass spectrometry, amino acid sequencing, and bio-informatics to resolve comprehensively, to quantify, and to characterize proteins. The application of proteomics provides major opportunities to elucidate disease mechanisms and to identify new diagnostic markers and therapeutic targets. This review aims to explain briefly the background to proteomics and then to outline proteomic techniques. Applications to the study of human disease conditions ranging from cancer to infectious diseases are reviewed. Finally, possible future advances are briefly considered, especially those which may lead to faster sample throughput and increased sensitivity for the detection of individual proteins. Copyright 2000 John Wiley & Sons, Ltd.

  11. Reducing selection bias in case-control studies from rare disease registries.

    PubMed

    Cole, J Alexander; Taylor, John S; Hangartner, Thomas N; Weinreb, Neal J; Mistry, Pramod K; Khan, Aneal

    2011-09-12

    In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example. A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching. The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

  12. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

    PubMed

    Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

    2016-01-09

    Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34,819 patients (19,713 with Crohn's disease, 14,683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype-phenotype associations across 156,154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. After quality control, the primary analysis included 29,838 patients (16,902 with Crohn's disease, 12,597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for inflammatory bowel disease showed strong association with

  13. Quality of life in inflammatory bowel disease patients: A cross-sectional study.

    PubMed

    Habibi, Farzaneh; Habibi, Mohammad Emadoddin; Gharavinia, Ali; Mahdavi, Sadegh Baradaran; Akbarpour, Mohammad Javad; Baghaei, Abdolmehdi; Emami, Mohammad Hassan

    2017-01-01

    Inflammatory bowel disease (IBD) has a significant impact on health-related quality of life (HRQOL). This study aims to investigate the variables which can be attributed to HRQOL in IBD patients. Seventy-one patients filled in IBD questionnaire (IBDQ-32), Pittsburgh sleep quality index questionnaire, and sociodemographic questionnaire. Disease activity was assessed by Crohn's disease activity index (CDAI) and ulcerative colitis activity index (UCAI). The correlations of sleep quality, sociodemographic variables, and disease characteristics with IBDQ were investigated. IBDQ-32 mean score was lower in patients who had hospitalization ( P = 0.01), poor sleep quality ( P < 0.001), anemia ( P = 0.03), more severe disease ( P = 0.01), and those who had not consumed folic acid ( P = 0.01) relative to their counterparts. A multivariate regression analysis identified the predictors of decreased HRQOL as not consuming folic acid ( P = 0.008), poor sleep quality ( P = 0.014), and disease severity ( P = 0.043). Impaired HRQOL was significantly associated with poor sleep quality, lack of folic acid consumption, and disease severity in IBD patients. Therefore, evaluation of folic acid level and efficacy of its supplementation in prospective studies is recommended. Treatment of sleep disturbance with pharmacological agents and nonpharmacological methods should be kept in mind as well.

  14. Diseases associated with pronounced eosinophilia: a study of 105 dogs in Sweden.

    PubMed

    Lilliehöök, I; Gunnarsson, L; Zakrisson, G; Tvedten, H

    2000-06-01

    Records of 105 dogs with pronounced eosinophilia (>2.2 x 10(9) eosinophils/litre) were evaluated in a retrospective study to determine diseases associated with the abnormality in dogs in Sweden. Inflammatory disease in organs with large epithelial surfaces, such as the gut, lungs or skin, was found in 36 per cent of the dogs. A further one-quarter of the 105 cases were placed in the 'miscellaneous' category, which comprised various diseases found at low frequency. The most well defined diagnosis was pulmonary infiltrates with eosinophils in 12 per cent of the dogs. A further 11 per cent had parasitic disease caused by either sarcoptic mange or nasal mite. No atopic dog was found and rottweilers were over-represented in most disease groups. Pronounced eosinophilia, in many cases transient, seems to be associated with a variety of disorders in dogs. In the present study, rottweilers appeared to be more prone to a high eosinophil response than other breeds.

  15. Clinicopathological study of glomerular diseases associated with sarcoidosis: a multicenter study

    PubMed Central

    2013-01-01

    Background The association between sarcoidosis and glomerular diseases has not been extensively investigated in a large series and the potential features of this uncommon association remain to be determined. Methods We retrospectively identified 26 patients with biopsy-proven glomerular lesions that occurred in a sarcoidosis context. Potential remission of glomerular disease and sarcoidosis under specific treatment (steroid and/or immunosuppressive agents) was recorded for all patients. Demographic, clinical and biological characteristics were assessed at the time of kidney biopsy for each patient. Therapeutic data were analyzed for all patients. Results Glomerular disease occurred after the diagnosis of sarcoidosis in 11 of 26 cases (42%) (mean delay of 9.7 years). In six patients (23%), the glomerulopathy preceded the sarcoidosis diagnosis (mean delay 8 years). In the last nine patients (35%), both conditions occurred simultaneously. The most frequent glomerular disease occurring in sarcoidosis patients was membranous nephropathy in eleven cases. Other glomerular lesions included IgA nephropathy in six cases, focal segmental glomerulosclerosis in four patients, minimal change nephrotic syndrome for three patients and proliferative lupus nephritis in two patients. Granulomatous interstitial nephritis was associated with glomerular disease in six patients and was exclusively found in patients in whom the both disease occurred simultaneously. In nine patients with simultaneous glomerular and sarcoidosis diseases, we observed a strong dissociation between glomerular disease and sarcoidosis in terms of steroid responsiveness. At the end of the follow-up (mean of 8.4 years), six patients had reached end-stage renal disease and three patients had died. Conclusions A wide spectrum of glomerular lesions is associated with sarcoidosis. The close temporal relationship observed in some patients suggests common causative molecular mechanisms of glomerular injury but

  16. The Certainty of Uncertainty: Potential Sources of Bias and Imprecision in Disease Ecology Studies.

    PubMed

    Lachish, Shelly; Murray, Kris A

    2018-01-01

    Wildlife diseases have important implications for wildlife and human health, the preservation of biodiversity and the resilience of ecosystems. However, understanding disease dynamics and the impacts of pathogens in wild populations is challenging because these complex systems can rarely, if ever, be observed without error. Uncertainty in disease ecology studies is commonly defined in terms of either heterogeneity in detectability (due to variation in the probability of encountering, capturing, or detecting individuals in their natural habitat) or uncertainty in disease state assignment (due to misclassification errors or incomplete information). In reality, however, uncertainty in disease ecology studies extends beyond these components of observation error and can arise from multiple varied processes, each of which can lead to bias and a lack of precision in parameter estimates. Here, we present an inventory of the sources of potential uncertainty in studies that attempt to quantify disease-relevant parameters from wild populations (e.g., prevalence, incidence, transmission rates, force of infection, risk of infection, persistence times, and disease-induced impacts). We show that uncertainty can arise via processes pertaining to aspects of the disease system, the study design, the methods used to study the system, and the state of knowledge of the system, and that uncertainties generated via one process can propagate through to others because of interactions between the numerous biological, methodological and environmental factors at play. We show that many of these sources of uncertainty may not be immediately apparent to researchers (for example, unidentified crypticity among vectors, hosts or pathogens, a mismatch between the temporal scale of sampling and disease dynamics, demographic or social misclassification), and thus have received comparatively little consideration in the literature to date. Finally, we discuss the type of bias or imprecision introduced

  17. Predictors of temporary and permanent work disability in patients with inflammatory bowel disease: results of the swiss inflammatory bowel disease cohort study.

    PubMed

    Siebert, Uwe; Wurm, Johannes; Gothe, Raffaella Matteucci; Arvandi, Marjan; Vavricka, Stephan R; von Känel, Roland; Begré, Stefan; Sulz, Michael C; Meyenberger, Christa; Sagmeister, Markus

    2013-01-01

    Inflammatory bowel disease can decrease the quality of life and induce work disability. We sought to (1) identify and quantify the predictors of disease-specific work disability in patients with inflammatory bowel disease and (2) assess the suitability of using cross-sectional data to predict future outcomes, using the Swiss Inflammatory Bowel Disease Cohort Study data. A total of 1187 patients were enrolled and followed up for an average of 13 months. Predictors included patient and disease characteristics and drug utilization. Potential predictors were identified through an expert panel and published literature. We estimated adjusted effect estimates with 95% confidence intervals using logistic and zero-inflated Poisson regression. Overall, 699 (58.9%) experienced Crohn's disease and 488 (41.1%) had ulcerative colitis. Most important predictors for temporary work disability in patients with Crohn's disease included gender, disease duration, disease activity, C-reactive protein level, smoking, depressive symptoms, fistulas, extraintestinal manifestations, and the use of immunosuppressants/steroids. Temporary work disability in patients with ulcerative colitis was associated with age, disease duration, disease activity, and the use of steroids/antibiotics. In all patients, disease activity emerged as the only predictor of permanent work disability. Comparing data at enrollment versus follow-up yielded substantial differences regarding disability and predictors, with follow-up data showing greater predictor effects. We identified predictors of work disability in patients with Crohn's disease and ulcerative colitis. Our findings can help in forecasting these disease courses and guide the choice of appropriate measures to prevent adverse outcomes. Comparing cross-sectional and longitudinal data showed that the conduction of cohort studies is inevitable for the examination of disability.

  18. Disseminated Cryptococcosis With Brain Involvement in Patients With Chronic Lymphoid Malignancies on Ibrutinib.

    PubMed

    Messina, Julia A; Maziarz, Eileen K; Spec, Andrej; Kontoyiannis, Dimitrios P; Perfect, John R

    2017-01-01

    We report 2 cases of disseminated cryptococcosis with central nervous system involvement in patients with chronic lymphoid malignancies occurring within 1 month of starting on ibrutinib. Characteristically, in both cases, no inflammation was seen in the cerebrospinal fluid. Central nervous system mycoses should be considered as a potential complication of ibrutinib.

  19. Liver cirrhosis in selected autoimmune diseases: a nationwide cohort study in Taiwan.

    PubMed

    Tung, Chien-Hsueh; Lai, Ning-Seng; Lu, Ming-Chi; Lee, Ching-Chih

    2016-02-01

    The association between autoimmune diseases and liver cirrhosis has rarely been explored in Asian populations, an endemic area of viral hepatitis. The aim of this study was to investigate the comparative risk of liver cirrhosis among a group of selective autoimmune diseases in Taiwanese patients and to identify groups of high risk. This retrospective study was a nationwide, population-based study and used Taiwan's National Health Insurance Research Database. A total of 29,856 patients with definite diagnosis of selected autoimmune diseases (Registry of Taiwan Catastrophic Illness Database, ACR classification) at the starting time point of January 1, 2005, were enrolled in this study. After tracked for a 5-year period, the endpoints were diagnosis of liver cirrhosis (in accordance with International Classification of Diseases, Ninth Revision, Clinical Modification, ICD-9-CM codes 571). The control group was composed of other patients in the same database and consisted of randomly selected 753,495 sex- and age-matched non-autoimmune disease patients. The Cox proportional hazard regression model was used to calculate the risk of liver cirrhosis after adjusting for certain variables such as comorbidity, living area, and socioeconomic status. Among the patients with selected autoimmune diseases, 1987 liver cirrhosis were observed. Patients with psoriasis had a significantly increased risk of liver cirrhosis (HR 1.87, 95 % CI 1.25-2.81) than control group without psoriasis. The risk of liver cirrhosis was significantly lower in patients with rheumatoid arthritis (HR 0.29, 95 % CI 0.19-0.44). There is a gradient of risk of liver cirrhosis among the autoimmune diseases; the specific risks need to be investigated on the basis of hypotheses. Conventional immunosuppressive drug administration should be carefully implemented by regular monitoring of liver condition in order to avoid causing an adverse effect of chronic liver fibrosis.

  20. The impact of skin diseases on quality of life: A multicenter study.

    PubMed

    Sanclemente, G; Burgos, C; Nova, J; Hernández, F; González, C; Reyes, M I; Córdoba, N; Arévalo, Á; Meléndez, E; Colmenares, J; Ariza, S; Hernández, G

    2017-04-01

    To date, no formal study has been published regarding how Colombian patients with skin disorders could be affected according to their perception of disease. To determine the impact in quality of life of skin diseases in a Colombian population. This multicenter study included patients with skin disease from almost the whole country. Individuals >18 years old; of any gender; with any skin disease and who signed informed consent, were included. We applied the Colombian validated version of the Skindex-29 instrument. A total of 1896 questionnaires had sufficient information for the analyses. No significant differences in sociodemographic characteristics of patients who returned the questionnaire incomplete vs. complete, were found. Participants mean age was 41.5 years. There were no statistical differences in men vs. women regarding the global (p=0.37), symptoms (p=0.71) and emotions (p=0.32) domains, whereas statistical differences were found in the function domain (p=0.04; Mann-Whitney U test). Psoriasis, contact dermatitis, atopic dermatitis, urticaria, hair disorders, Hansen's disease, scars, hyperhidrosis and genital human papillomavirus disease scored the highest. Skindex-29 score variability as a result of differences in the location of the skin lesions, their inflammatory or non-inflammatory nature, and the start of therapy. Even the most localized or asymptomatic skin lesion in our population leads to a disruption at some level of patient's wellness. This study adds well supported scientific data of the burden of skin diseases worldwide. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Aspergillus Polymerase Chain Reaction: Systematic Review of Evidence for Clinical Use in Comparison With Antigen Testing.

    PubMed

    White, P Lewis; Wingard, John R; Bretagne, Stéphane; Löffler, Jürgen; Patterson, Thomas F; Slavin, Monica A; Barnes, Rosemary A; Pappas, Peter G; Donnelly, J Peter

    2015-10-15

    Aspergillus polymerase chain reaction (PCR) was excluded from the European Organisation for the Research and Treatment of Cancer/Mycoses Study Group (EORTC/MSG) definitions of invasive fungal disease because of limited standardization and validation. The definitions are being revised. A systematic literature review was performed to identify analytical and clinical information available on inclusion of galactomannan enzyme immunoassay (GM-EIA) (2002) and β-d-glucan (2008), providing a minimal threshold when considering PCR. Categorical parameters and statistical performance were compared. When incorporated, GM-EIA and β-d-glucan sensitivities and specificities for diagnosing invasive aspergillosis were 81.6% and 91.6%, and 76.9% and 89.4%, respectively. Aspergillus PCR has similar sensitivity and specificity (76.8%-88.0% and 75.0%-94.5%, respectively) and comparable utility. Methodological recommendations and commercial PCR assays assist standardization. Although all tests have limitations, currently, PCR is the only test with independent quality control. We propose that there is sufficient evidence that is at least equivalent to that used to include GM-EIA and β-d-glucan testing, and that PCR is now mature enough for inclusion in the EORTC/MSG definitions. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America.

  2. A Prospective Cohort Study of Periodontal Disease Measures and Cardiovascular Disease Markers in HIV-Infected Adults

    PubMed Central

    Babineau, Denise C.; Demko, Catherine A.; Lederman, Michael M.; Wang, Xuelei; Toossi, Zahra; Weinberg, Aaron; Rodriguez, Benigno

    2011-01-01

    Abstract The determinants of HIV-associated cardiovascular disease (CVD) are not well understood. Periodontal disease (PD) has been linked to CVD but this connection has not been examined in HIV infection. We followed a cohort of HIV-infected adults to ascertain whether PD was associated with carotid artery intima media thickness (IMT) and brachial artery flow-mediated dilation (FMD). We performed a longitudinal observational study of HIV-infected adults on HAART for <2 years with no known heart disease. PD was characterized clinically and microbiologically. Cardiovascular disease was assessed by IMT/FMD. Linear mixed models assessed cross-sectional and longitudinal associations between PD and FMD/IMT. Forty three HIV+ adults completed a median of 24 (6–44) months on the study. Defining delta to be the change in a variable between baseline and a follow-up time, longitudinally, on average and after adjusting for change in time, CVD-specific and HIV-specific potential confounding covariates, a 1-log10 increase in delta Porphyromonas gingivalis was associated with a 0.013 mm increase in delta IMT (95% CI: 0.0006–0.0262; p=0.04). After adjusting for the same potential confounding covariates, a 10% increase in delta gingival recession was associated with a 2.3% increase in delta FMD (95% CI: 0.4–4.2; p=0.03). In a cohort of HIV-infected adults, an increase in subgingival Porphyromonas gingivalis, a known periodontal pathogen, was significantly associated with longitudinal increases in IMT, while increased gingival recession, which herein may represent PD resolution, was significantly associated with longitudinal improvement in FMD. In the context of HIV infection, PD may contribute to CVD risk. Intervention studies treating PD may help clarify this association. PMID:21443451

  3. A retrospective study of chronic nasal disease in 75 dogs.

    PubMed

    Lobetti, R G

    2009-12-01

    Chronic nasal disease is a common problem in dogs. To determine the aetiology, a retrospective study in 75 dogs with persistent and chronic nasal disease was done. All dogs were evaluated by means of survey nasal radiographs, antegrade and retrograde rhinoscopy, bacterial and fungal cultures, and histopathology. A definitive diagnosis was made in 74/75 cases (98.6%). Nasal neoplasia was the most common diagnosis (46.7%), median age 108 months, followed by lympho-plasmacytic rhinitis (20%), median age 112 months, and fungal rhinitis (10.7%), median age 53.5 months. Other diagnoses included nasal foreign body (5.3%), median age 51 months, and primary bacterial rhinitis (6.7%), median age 116.5 months. Rare aetiologies identified were nasal polyps, granulomatous rhinitis, oro-nasal fistula and naso-pharyngeal stenosis. This study showed that by using a structured combination of survey radiography, rhinoscopy, cultures and histopathology, a diagnosis could be made in dogs with chronic nasal disease.

  4. “Gestaltomics”: Systems Biology Schemes for the Study of Neuropsychiatric Diseases

    PubMed Central

    Gutierrez Najera, Nora A.; Resendis-Antonio, Osbaldo; Nicolini, Humberto

    2017-01-01

    The integration of different sources of biological information about what defines a behavioral phenotype is difficult to unify in an entity that reflects the arithmetic sum of its individual parts. In this sense, the challenge of Systems Biology for understanding the “psychiatric phenotype” is to provide an improved vision of the shape of the phenotype as it is visualized by “Gestalt” psychology, whose fundamental axiom is that the observed phenotype (behavior or mental disorder) will be the result of the integrative composition of every part. Therefore, we propose the term “Gestaltomics” as a term from Systems Biology to integrate data coming from different sources of information (such as the genome, transcriptome, proteome, epigenome, metabolome, phenome, and microbiome). In addition to this biological complexity, the mind is integrated through multiple brain functions that receive and process complex information through channels and perception networks (i.e., sight, ear, smell, memory, and attention) that in turn are programmed by genes and influenced by environmental processes (epigenetic). Today, the approach of medical research in human diseases is to isolate one disease for study; however, the presence of an additional disease (co-morbidity) or more than one disease (multimorbidity) adds complexity to the study of these conditions. This review will present the challenge of integrating psychiatric disorders at different levels of information (Gestaltomics). The implications of increasing the level of complexity, for example, studying the co-morbidity with another disease such as cancer, will also be discussed. PMID:28536537

  5. Using Twitter to Measure Public Discussion of Diseases: A Case Study

    PubMed Central

    Schwartz, H Andrew; Hill, Shawndra; Merchant, Raina M; Arango, Catalina; Ungar, Lyle

    2015-01-01

    Background Twitter is increasingly used to estimate disease prevalence, but such measurements can be biased, due to both biased sampling and inherent ambiguity of natural language. Objective We characterized the extent of these biases and how they vary with disease. Methods We correlated self-reported prevalence rates for 22 diseases from Experian’s Simmons National Consumer Study (n=12,305) with the number of times these diseases were mentioned on Twitter during the same period (2012). We also identified and corrected for two types of bias present in Twitter data: (1) demographic variance between US Twitter users and the general US population; and (2) natural language ambiguity, which creates the possibility that mention of a disease name may not actually refer to the disease (eg, “heart attack” on Twitter often does not refer to myocardial infarction). We measured the correlation between disease prevalence and Twitter disease mentions both with and without bias correction. This allowed us to quantify each disease’s overrepresentation or underrepresentation on Twitter, relative to its prevalence. Results Our sample included 80,680,449 tweets. Adjusting disease prevalence to correct for Twitter demographics more than doubles the correlation between Twitter disease mentions and disease prevalence in the general population (from .113 to .258, P <.001). In addition, diseases varied widely in how often mentions of their names on Twitter actually referred to the diseases, from 14.89% (3827/25,704) of instances (for stroke) to 99.92% (5044/5048) of instances (for arthritis). Applying ambiguity correction to our Twitter corpus achieves a correlation between disease mentions and prevalence of .208 ( P <.001). Simultaneously applying correction for both demographics and ambiguity more than triples the baseline correlation to .366 ( P <.001). Compared with prevalence rates, cancer appeared most overrepresented in Twitter, whereas high cholesterol appeared most

  6. Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.

    PubMed

    Lin, Jhih-Rong; Zhang, Quanwei; Cai, Ying; Morrow, Bernice E; Zhang, Zhengdong D

    2017-12-01

    Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Simulations reveal that our method can outperform a widely-used rare variant association test method by 2 to 3 times. In a case study of a small disease cohort, we uncovered putative risk genes and the corresponding rare variants that may act as genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome patients. These variants were missed by a conventional approach that relied on the rare variant association test alone.

  7. Inflammation and Cardiovascular Disease Risk: A Case Study of HIV and Inflammatory Joint Disease.

    PubMed

    Rahman, Faisal; Martin, Seth S; Whelton, Seamus P; Mody, Freny V; Vaishnav, Joban; McEvoy, John William

    2018-04-01

    The epidemiologic data associating infection and inflammation with increased risk of cardiovascular disease is well established. Patients with chronically upregulated inflammatory pathways, such as those with HIV and inflammatory joint diseases, often have a risk of future cardiovascular risk that is similar to or higher than patients with diabetes. Thus, it is of heightened importance for clinicians to consider the cardiovascular risk of patients with these conditions. HIV and inflammatory joint diseases are archetypal examples of how inflammatory disorders contribute to vascular disease and provide illustrative lessons that can be leveraged in the prevention of cardiovascular disease. Managing chronic inflammatory diseases calls for a multifaceted approach to evaluation and treatment of suboptimal lifestyle habits, accurate estimation of cardiovascular disease risk with potential upwards recalibration due to chronic inflammation, and more intensive treatment of risk factors because current tools often underestimate the risk in this population. This approach is further supported by the recently published CANTOS trial demonstrating that reducing inflammation can serve as a therapeutic target among persons with residual inflammatory risk for cardiovascular disease. Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Chronic Kidney Disease as a Predictor of Cardiovascular Disease (From the Framingham Heart Study)

    PubMed Central

    Parikh, Nisha I.; Hwang, Shih-Jen; Larson, Martin G.; Levy, Daniel; Fox, Caroline S.

    2008-01-01

    Chronic kidney disease (CKD) is a risk factor for cardiovascular disease (CVD), although shared risk factors may mediate much of the association. We related CKD and CVD in the setting of specific CVD risk factors and determined whether more advanced CKD was a CVD risk equivalent. The Framingham Heart Study original cohort (n=2471, mean age 68 years, 58.9% women) was studied. Glomerular filtration rate (eGFR) was estimated using the simplified Modification of Diet in Renal Disease Study equation. CKD was defined as eGFR < 59 mL/min per 1.73 m2 (women) and < 64 (men) and Stage 3b CKD defined as eGFR 30-44 (women) and 30-50 (men). Cox Proportional Hazard models adjusting for CVD risk factors were used to relate CKD to CVD. We tested for effect modification by CVD risk factors. Overall, 23.2% of the study sample had CKD (n=574; mean eGFR 50 mL/min per 1.73 m2) and 5.3% had Stage 3b CKD (n=131; mean eGFR 42 mL/min per 1.73 m2). In multivariable models (mean follow-up time 16 years), Stage 3 CKD was marginally associated with CVD (HR=1.17, 95% CI 0.99-1.38, p=0.06), whereas Stage 3b CKD was associated with CVD [HR=1.41, 95% CI 1.05-1.91, p=0.02]. Upon testing CVD risk equivalency, the risk of CVD for Stage 3b CKD among participants with prior CVD was significantly lower as compared to participants with prior CVD and no Stage 3b CKD (age- and sex-adjusted HR for CVD = 0.66 [95% CI 0.47 to 0.91], p=0.01). Low HDL modified the association between CKD and CVD (p-value=0.004 for interaction). Stage 3b CKD is associated with CVD but is not a CVD risk equivalent. In conclusion, CVD risk in the setting of CKD is higher in the setting of low HDL cholesterol. PMID:18572034

  9. Clinicopathologic study of vulvar Paget's disease in China.

    PubMed

    Liu, Guoyan; Yuan, Bibo; Wang, Yingmei; Xue, Fengxia

    2014-07-01

    To assess the clinicopathologic characteristics of patients with vulvar Paget's disease who were admitted in our hospital or of cases reported in a Chinese journal. The age, disease course, clinical manifestation, pathologic diagnosis, treatment, and follow-up data of patients with vulvar Paget's disease were reviewed. There were 85 cases of vulvar Paget's disease reviewed. The mean age of patients with vulvar Paget's disease was 64.4 years, and their mean disease course was 52.36 months. The patients' primary clinical manifestations were pruritus. Treatment included simple vulvectomy, wide local excision, partial vulvectomy, radical vulvectomy with/without groin dissection, and radiotherapy. Intraepithelial Paget's disease was the most common pathology type (61.5%) followed by invasive Paget's disease (20.0%). There were 7 patients who had a history of secondary malignancy. The mean follow-up period was 43.6 months. The recurrence rate was as high as 43.5%. No significant relationships between margin status, lymph node involvement, pathology type, and recurrence were found (p > .05). Vulvar Paget's disease has a high local recurrence risk and a long-term follow-up is required.

  10. Comparative effectiveness studies to improve clinical outcomes in end stage renal disease: the DEcIDE patient outcomes in end stage renal disease study

    PubMed Central

    2012-01-01

    Background Evidence is lacking to inform providers’ and patients’ decisions about many common treatment strategies for patients with end stage renal disease (ESRD). Methods/design The DEcIDE Patient Outcomes in ESRD Study is funded by the United States (US) Agency for Health Care Research and Quality to study the comparative effectiveness of: 1) antihypertensive therapies, 2) early versus later initiation of dialysis, and 3) intravenous iron therapies on clinical outcomes in patients with ESRD. Ongoing studies utilize four existing, nationally representative cohorts of patients with ESRD, including (1) the Choices for Healthy Outcomes in Caring for ESRD study (1041 incident dialysis patients recruited from October 1995 to June 1999 with complete outcome ascertainment through 2009), (2) the Dialysis Clinic Inc (45,124 incident dialysis patients initiating and receiving their care from 2003–2010 with complete outcome ascertainment through 2010), (3) the United States Renal Data System (333,308 incident dialysis patients from 2006–2009 with complete outcome ascertainment through 2010), and (4) the Cleveland Clinic Foundation Chronic Kidney Disease Registry (53,399 patients with chronic kidney disease with outcome ascertainment from 2005 through 2009). We ascertain patient reported outcomes (i.e., health-related quality of life), morbidity, and mortality using clinical and administrative data, and data obtained from national death indices. We use advanced statistical methods (e.g., propensity scoring and marginal structural modeling) to account for potential biases of our study designs. All data are de-identified for analyses. The conduct of studies and dissemination of findings are guided by input from Stakeholders in the ESRD community. Discussion The DEcIDE Patient Outcomes in ESRD Study will provide needed evidence regarding the effectiveness of common treatments employed for dialysis patients. Carefully planned dissemination strategies to the ESRD

  11. Periodontal and systemic diseases among Swedish dental school patients - a retrospective register study.

    PubMed

    Marjanovic, Marija; Buhlin, Kåre

    2013-01-01

    To investigate if patients with periodontitis attending the Dental School in Huddinge, Sweden presented with more signs of systemic diseases, such as cardiovascular disease, diabetes mellitus and respiratory diseases, compared to healthy and gingivitis patients. In this retrospective study, dental charts were examined where the periodontal diagnoses of patients were known. A total of 325 patients with severe periodontitis and 149 patients without periodontitis, born 1928 to 1968, were identified. Diagnosis regarding the systemic diseases was self-reported. Odds ratios for cardiovascular diseases, diabetes mellitus and respiratory diseases were calculated with a logistic regression model that was adjusted for age, gender and smoking. It was observed that more cases of periodontitis were found in older individuals than the controls (61.7 vs 56.2 years; P < 0.001). A total of 44.3% of patients with severe periodontitis also suffered from cardiovascular diseases, 19.1% respiratory diseases and 21.2% from diabetes mellitus. Among the controls, 30.9% had cardiovascular disease, 23.5% suffered from respiratory diseases and 6.7% had diabetes mellitus. Across both groups, hypertension was the most frequent diagnosis. There was a significant association between periodontitis and cardiovascular disease (odds ratio [OR] = 1.79, confidence interval [CI] 1.12-2.86), but not between respiratory diseases and periodontitis (OR= 0.88, CI 0.53-1.47). The risk of diabetes mellitus was greater among those patients with periodontitis (OR= 2.95, CI 1.45- 6.01). This study found that patients with periodontitis presented with more systemic diseases, such as cardiovascular disease and diabetes mellitus than control patients. However, no association was found between periodontitis and respiratory diseases. At the present time, the reasons for the associations or lack of association are unknown.

  12. Exploratory study into the awareness of heart diseases among Emirati women (UAE) and their health seeking behaviour- a qualitative study.

    PubMed

    Khan, Sarah; Khoory, Ayesha; Al Zaffin, Dhabia; Al Suwaidi, Meera

    2016-11-07

    Cardiovascular diseases were the leading cause of death in women in the United Arab Emirates (UAE) in 2010. The UAE is expected to experience a tripling of heart diseases in the next two decades as risk factors for heart diseases increase. Research shows that first year survival rates of younger women suffering from a heart attack are lower than in men. Women present with a wider range of symptoms for heart diseases than men; non-recognition of atypical symptoms may explain the delay in seeking treatment and poor prognosis following heart diseases in women. No known study on awareness of heart diseases among women has been carried out in the Middle Eastern region. Social constructionist and interpretivist epistemological approaches have been considered in this qualitative study to explore the awareness of heart diseases and the health seeking behavior of Emirati women. Convenience sampling was used to recruit 41 Emirati women. Three focus groups and six in-depth semi-structured interviews were conducted to obtain data. Thematic content analysis was applied to the data following transcription and translation of recordings. Emirati women had limited knowledge on heart diseases. Women were generally unaware of the atypical symptoms, commonly experienced by women however they identified most risk factors associated with heart diseases. Lack of awareness of disease severity and symptoms, sociocultural influences and distrust in the healthcare system were considered the main barriers to seeking prompt treatment. This study clearly identified gaps and inaccuracies in knowledge of heart diseases, which could contribute to delayed health seeking action and possibly poorer prognosis among Emirati women. Absence of initiatives to educate women on cardiovascular diseases in UAE has erroneously deemed it a less serious concern among Emirati women. The findings from this study provide clear indications of the need to increase accountability of the healthcare system and to

  13. Applications of Induced Pluripotent Stem Cells in Studying the Neurodegenerative Diseases.

    PubMed

    Wan, Wenbin; Cao, Lan; Kalionis, Bill; Xia, Shijin; Tai, Xiantao

    2015-01-01

    Neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons. Incurable neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson's disease (PD) show dramatic rising trends particularly in the advanced age groups. However, the underlying mechanisms are not yet fully elucidated, and to date there are no biomarkers for early detection or effective treatments for the underlying causes of these diseases. Furthermore, due to species variation and differences between animal models (e.g., mouse transgenic and knockout models) of neurodegenerative diseases, substantial debate focuses on whether animal and cell culture disease models can correctly model the condition in human patients. In 2006, Yamanaka of Kyoto University first demonstrated a novel approach for the preparation of induced pluripotent stem cells (iPSCs), which displayed similar pluripotency potential to embryonic stem cells (ESCs). Currently, iPSCs studies are permeating many sectors of disease research. Patient sample-derived iPSCs can be used to construct patient-specific disease models to elucidate the pathogenic mechanisms of disease development and to test new therapeutic strategies. Accordingly, the present review will focus on recent progress in iPSC research in the modeling of neurodegenerative disorders and in the development of novel therapeutic options.

  14. Immunohistochemical study of intestinal eosinophils in inflammatory bowel disease.

    PubMed

    Carvalho, Ana Teresa Pugas; Elia, Celeste Carvalho Siqueira; de Souza, Heitor Siffert Pereira; Elias, Paulo Roberto Pinheiro; Pontes, Eduardo Lopes; Lukashok, Hannah Pitanga; de Freitas, Fernanda Cristina Dias; Lapa e Silva, José Roberto

    2003-02-01

    Eosinophil accumulation and activation are characteristic features of inflammation in allergic diseases and in host defense against parasites. To investigate the involvement of eosinophils in inflamed and noninflamed mucosa of patients with inflammatory bowel disease (IBD). Specimens of inflamed colonic mucosa from 15 patients with ulcerative colitis (UC) and inflamed and noninflamed colonic mucosa from 15 patients with Crohn's disease (CD) were submitted to histologic and immunohistochemical studies. Twelve patients with irritable bowel syndrome were studied as controls. Sirius red was used to label eosinophils in tissue. EG1, EG2, and anti-hIL-5 were used as primary antibodies in an indirect alkaline phosphatase-labeled immunostaining protocol. Both positive and negative lamina propria cells were assessed by a quantitative grading system and the results expressed as cell numbers per mm. Increased proportions of eosinophils stained with Sirius red, EG1, EG2, and anti-hIL-5+ cells were found in the colon of patients with UC and in inflamed and noninflamed colon of CD patients as compared with controls. Crohn's disease patients showed increased proportions of EG1+ and EG2+ cells as compared with those with UC. Increased proportions of IL-5+ cells were detected in UC patients as compared with those with CD. Quantitative eosinophil alterations and IL-5+ cells may indicate enhanced cellular activation with degranulation, which is implicated in the pathogenesis of IBD. Increase in IL-5+ cells may reflect a predominant local Th2 response in UC as compared with CD.

  15. Study of the burden on patients with chronic obstructive pulmonary disease

    PubMed Central

    Izquierdo, J L; Barcina, C; Jiménez, J; Muñoz, M; Leal, M

    2009-01-01

    Background: Health-related quality of life measures are widely used in patients with chronic obstructive pulmonary disease (COPD). However, they are extremely limited when used to evaluate patients outside the clinical trials. The aim of this study was to analyse the burden of the disease using a simple, validated, self-administered questionnaire specifically developed for patients in daily clinical practice. Methods: A total of 3935 patients (74.5% men; mean age, 67 years) participated in a cross-sectional study. The burden of COPD on patients was measured using the Clinical COPD Questionnaire (CCQ). COPD was rated at four levels by the forced expiratory volume in one second (FEV1) according to The Global Initiative for Chronic Obstructive Lung Disease (GOLD) scale. Results: The disease mainly affects old men (more than 50% were over 65 years of age) and non-employed men (23% were employed). Of the patients studied, 22.7% continued smoking, especially men (24.4% of men vs. 18.1% of women). Most patients (54%) were diagnosed with moderate stage II COPD. Severity of COPD was lower in women: 29.6% of men had severe COPD compared with 13.7% of women. During the last year, 65.1% had at least one acute exacerbation and 36.6% were admitted to hospital because of COPD exacerbation. No association was found between the body mass index and COPD stage. The variable that most influenced the disease burden was dyspnoea, as progression from grade 0 to grade 4 increased the disease burden by 1.78 points for symptoms, 2.43 for functional state and 1.53 for mental state. The functional classification of COPD also had a significant influence on the disease burden. Conclusions: The present findings show that dyspnoea and the degree of airflow limitation are the clinical variables that most affect the burden of COPD from the patient’s point of view. PMID:19125996

  16. Study of Ebola Virus Disease Survivors in Guinea.

    PubMed

    Qureshi, Adnan I; Chughtai, Morad; Loua, Tokpagnan Oscar; Pe Kolie, Jean; Camara, Hadja Fatou Sikhe; Ishfaq, Muhammad Fawad; N'Dour, Cheikh Tidane; Beavogui, Kezely

    2015-10-01

    There is a paucity of data regarding health consequences of Ebola virus disease among survivors. We surveyed 105 Ebola virus disease survivors postdischarge from an Ebola treatment unit in Guinea using a standard data collection form. Patients rated recovery as the percentage of improvement in functional status, where 0% represents "unable to perform" and 100% represents "able to perform at prior level." The mean ± standard deviation time interval between hospital discharge and administration of questionnaire was 103.5 ± 47.9 days in 105 survivors. Anorexia was reported by 103 patients, with varying severity levels: mild (n = 33), moderate (n = 65), or severe (n = 5). Reported pain according to site was chest (30.7%), joint (86.7%), muscle (26.7%), and back (45.7%), among others. Recovery in functional status was graded as mild (10%-30%) (n = 2 [1.9%]), moderate (40%-70%) (n = 52 [50.0%]), and excellent (80%-100%) (n = 50 [48.1%]). Severity of arthralgia (R(2) = 0.09; P = .008) was directly associated with lower recovery in functional status in multivariate analysis. Ebola virus disease survivors frequently reported anorexia and arthralgia. Severity of arthralgia was related to lower functional recovery. There may be a role for focused screening and intervention for symptoms identified in this study of survivors. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  17. Natural history of severe atheromatous disease of the thoracic aorta: a transesophageal echocardiographic study.

    PubMed

    Montgomery, D H; Ververis, J J; McGorisk, G; Frohwein, S; Martin, R P; Taylor, W R

    1996-01-01

    This study sought to prospectively observe the morphologic and clinical natural history of severe atherosclerotic disease of the thoracic aorta as defined by transesophageal echocardiography. Atherosclerosis of the thoracic aorta has been shown to be highly associated with risk for embolic events in transesophageal studies, but the natural history of the disease under clinical conditions has not been reported. During a 20-month period, 191 of 264 patients undergoing transesophageal echocardiography had adequate visualization of the aorta to allow atherosclerotic severity to be graded as follows: grade I = normal (44 patients); grade II = intimal thickening (52 patients); grade III = atheroma < 5 mm (62 patients); grade IV = atheroma > or = 5 mm (19 patients); grade V = mobile lesion (14 patients). All available patients with grades IV (8 patients) and V (10 patients) disease as well as a subgroup of 12 patients with grade III disease had follow-up transesophageal echocardiographic studies (mean [+/- SD] 11.7 +/- 0.9 months, range 6 to 22). Of 30 patients undergoing follow-up transesophageal echocardiographic studies, 20 (66%) had no change in atherosclerotic severity grade. Of the remaining 10 patients, atherosclerotic severity progressed one grade in 7 and decreased in 3 with resolved mobile lesions. Of 18 patients with grade IV or V disease of the aorta who underwent a follow-up study, 11 (61%) demonstrated formation of new mobile lesions. Of 10 patients with grade V disease on initial study who underwent follow-up study, 7 (70%) demonstrated resolution of a specific previously documented mobile lesion. However, seven patients (70%) with grade V disease also demonstrated development of a new mobile lesion. Of 33 patients with grade IV or V disease, 8 (24%) died during the study period, and 1 (3%) had a clinical embolic event. The presence of severe atherosclerotic disease of the thoracic aorta as defined by transesophageal echocardiography is associated with a

  18. Pattern and presentation of cardiac diseases among patients with chronic kidney disease attending a national referral hospital in Uganda: a cross sectional study.

    PubMed

    Babua, Christopher; Kalyesubula, Robert; Okello, Emmy; Kakande, Barbara; Sebatta, Erias; Mungoma, Michael; Mondo, Charles

    2015-08-04

    Chronic kidney disease is a risk factor for development of cardiovascular diseases. Cardiovascular diseases are the primary cause of morbidity and mortality in patients with chronic kidney disease. There is limited data on cardiovascular diseases among chronic kidney disease patients in resource limited settings including Uganda. We determined the prevalence and patterns of cardiac diseases among patients with chronic kidney disease attending the nephrology outpatient clinic in Mulago National Referral Hospital in Uganda. This was a cross sectional study in which two hundred seventeen patients with chronic kidney disease were recruited over a period of 9 months. Data on demographic characteristics and risk factors for cardiovascular diseases were collected using a standardized questionnaire. Cardiac evaluation was done using resting electrocardiography and transthoracic echocardiography performed for all study participants and findings entered into a data sheet. One hundred eleven (51.2 %) of the 217 participants were male. Mean age was 42.8 years. One hundred eighteen (54.4 %) of patients had either eccentric or concentric left ventricular hypertrophy. Patients with left ventricular hypertrophy were more likely to be hypertensive (p < 0.001) or anemic (p = 0.034). Up to 9.2 % of study subjects had valvular heart disease (rheumatic or degenerative) and 22 % had pericarditis. Forty one patients (18.9 %) had left ventricular systolic failure (Ejection fraction < 50 %). There was a higher prevalence of systolic failure in patients with left ventricular hypertrophy (21 % vs. 16 %) although this was not statistically significant, p = 0.346. Thirty eight participants (17.5 %) had diastolic failure while 2 % had cardiac rhythm abnormalities. Cardiac abnormalities are common in a predominantly young African population with CKD. Clinicians should routinely screen and manage cardiovascular disease in CKD patients.

  19. Comorbidities in rotator cuff disease: a case-control study.

    PubMed

    Titchener, Andrew G; White, Jonathan J E; Hinchliffe, Sally R; Tambe, Amol A; Hubbard, Richard B; Clark, David I

    2014-09-01

    Rotator cuff disease is a common condition in the general population, but relatively little is known about its associated risk factors. We have undertaken a large case-control study using The Health Improvement Network database to assess and to quantify the relative contributions of some constitutional and environmental risk factors for rotator cuff disease in the community. Our data set included 5000 patients with rotator cuff disease who were individually matched with a single control by age, sex, and general practice (primary care practice). The median age at diagnosis was 55 years (interquartile range, 44-65 years). Multivariate analysis showed that the risk factors associated with rotator cuff disease were Achilles tendinitis (odds ratio [OR] = 1.78), trigger finger (OR = 1.99), lateral epicondylitis (OR = 1.71), and carpal tunnel syndrome (OR = 1.55). Oral corticosteroid therapy (OR = 2.03), oral antidiabetic use (OR = 1.66), insulin use (OR = 1.77), and "overweight" body mass index of 25.1 to 30 (OR = 1.15) were also significantly associated. Current or previous smoking history, body mass index of greater than 30, any alcohol intake, medial epicondylitis, de Quervain syndrome, cubital tunnel syndrome, and rheumatoid arthritis were not found to be associated with rotator cuff disease. We have identified a number of comorbidities and risk factors for rotator cuff disease. These include lateral epicondylitis, carpal tunnel syndrome, trigger finger, Achilles tendinitis, oral corticosteroid use, and diabetes mellitus. The findings should alert the clinician to comorbid pathologic processes and guide future research into the etiology of this condition. Copyright © 2014 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

  20. Prevalence of diseases and statistical power of the Japan Nurses' Health Study.

    PubMed

    Fujita, Toshiharu; Hayashi, Kunihiko; Katanoda, Kota; Matsumura, Yasuhiro; Lee, Jung Su; Takagi, Hirofumi; Suzuki, Shosuke; Mizunuma, Hideki; Aso, Takeshi

    2007-10-01

    The Japan Nurses' Health Study (JNHS) is a long-term, large-scale cohort study investigating the effects of various lifestyle factors and healthcare habits on the health of Japanese women. Based on currently limited statistical data regarding the incidence of disease among Japanese women, our initial sample size was tentatively set at 50,000 during the design phase. The actual number of women who agreed to participate in follow-up surveys was approximately 18,000. Taking into account the actual sample size and new information on disease frequency obtained during the baseline component, we established the prevalence of past diagnoses of target diseases, predicted their incidence, and calculated the statistical power for JNHS follow-up surveys. For all diseases except ovarian cancer, the prevalence of a past diagnosis increased markedly with age, and incidence rates could be predicted based on the degree of increase in prevalence between two adjacent 5-yr age groups. The predicted incidence rate for uterine myoma, hypercholesterolemia, and hypertension was > or =3.0 (per 1,000 women, per year), while the rate of thyroid disease, hepatitis, gallstone disease, and benign breast tumor was predicted to be > or =1.0. For these diseases, the statistical power to detect risk factors with a relative risk of 1.5 or more within ten years, was 70% or higher.

  1. Clinical study of an outbreak of Legionnaire's disease in Alcoy, Southeastern Spain.

    PubMed

    Fernández, J A; López, P; Orozco, D; Merino, J

    2002-10-01

    The aim of this study was to identify the clinical features of Legionnaires' disease, sudden outbreaks of which demand a quick and flexible clinical approach, particularly with regard to diagnosis and therapy. A prospective and comparative study based on a clinical protocol was performed during an outbreak of Legionnaires' disease in Alcoy, Spain. The outbreak was environmental in origin, linked to cooling towers. Data about epidemiological and clinical features, blood chemistry values, radiological and microbiological findings, and characteristics related to the clinical course of Legionnaires' disease were obtained for 357 patients admitted to hospital with community-acquired pneumonia (177 with Legionella pneumonia). Patients with Legionnaires' disease were younger (mean age, 65.3+/-16.5 years) and more likely to be smokers compared with patients with other types of pneumonia (28.8% vs. 11.1%; P<0.01). Moreover, they had not been admitted to any hospital because of pneumonia in the previous year. Patients with Legionnaires' disease had higher fever, more severe headache, and less expectoration as well as lower sodium blood levels (mean, 132.6+/-4.8 mmol/l vs. 135.7 mmol/l; P<0.01). Radiological studies also showed that fewer patients with Legionnaires' disease had pleural effusion (9% vs. 19.4% of those with non- Legionella pneumonia). The presence of headache, high fever, hyponatremia, scanty or null expectoration, and current cigarette smoking provides physicians with important clues for a high suspicion of Legionella pneumonia before the results of confirmatory laboratory tests are available.

  2. Skin diseases in patients with primary psychiatric conditions: a hospital based study.

    PubMed

    Moftah, Nayera H; Kamel, Abeer M; Attia, Hussein M; El-Baz, Mona Z; Abd El-Moty, Hala M

    2013-09-01

    Although the relationship between skin diseases in patients with primary psychiatric conditions is important for patient management, studies on this issue are limited. To detect the frequency and type of cutaneous disorders among patients with primary psychiatric conditions. This analytic cross-sectional study was conducted on a total of 400 subjects - 200 patients with primary psychiatric disorders and 200 age and sex matched individuals free from primary psychiatric disorders. Patients included in the study were diagnosed according to The Diagnostic and Statistical Manual of Mental Disorders (DMS IV) Criteria. A specially designed questionnaire including socio-demographic data, medical history, family history and dermatological examination was applied. The data were statistically analyzed. There was a significant statistical increase in the prevalence of skin diseases in general and infectious skin diseases in particular in psychiatric patients compared with non-psychiatric patients (71.5% versus 22%, P<0.001) and (48% versus 11%, P<0.001), respectively. Parasitic infestations (42.7%) were the most common infectious skin diseases in psychiatric patients (P<0.001). Infectious skin diseases in psychiatric patients were seen most in patients diagnosed with schizophrenia (83.6%) and least in obsessive compulsive disorders (30%)(P<0.001). Psychogenic skin disorders were found in 8.4% of psychiatric patients with skin diseases; delusional parasitosis was the most common (50%). Health education of psychiatric patients and/or of their caregiver and periodic monthly inspection of psychiatric patients are highly indicated for the prevention and control of infectious skin diseases in primary psychiatric patients. Copyright © 2013 Ministry of Health, Saudi Arabia. Published by Elsevier Ltd. All rights reserved.

  3. Effects of Prenatal Methylmercury Exposure: From Minamata Disease to Environmental Health Studies.

    PubMed

    Sakamoto, Mineshi; Itai, Takaaki; Murata, Katsuyuki

    2017-01-01

    Methylmercury, the causative agent of Minamata disease, can easily penetrate the brain, and adult-type Minamata disease patients showed neurological symptoms according to the brain regions where the neurons, mainly in the cerebrum and cerebellum, were damaged. In addition, fetuses are exposed to methylmercury via the placenta from maternal fish consumption, and high-level exposure to methylmercury causes damage to the brains of infants. Typical patients with fetal-type Minamata disease (i.e., serious poisoning caused by in utero exposure to methylmercury) were born during the period of severe methylmercury pollution in 1955-1959, although they showed no abnormality during gestation nor at delivery. However, they showed difficulties in head control, sitting, and walking, and showed disturbances in mental development, these symptoms that are similar to those of cerebral palsy, during the growth periods after birth. The impaired development of fetal-type Minamata disease patients was one of the most tragic and characteristic feature of Minamata disease. In this review, we first summarize 1) the effects of prenatal methylmercury exposure in Minamata disease. Then, we introduce the studies that were conducted mainly by Sakamoto et al. as follows: 2) a retrospective study on temporal and regional variations of methylmercury pollution in Minamata area using preserved umbilical cord methylmercury, 3) decline in male sex ratio observed in Minamata area, 4) characteristics of hand tremor and postural sway in fetal-type Minamata disease patients, 5) methylmercury transfer from mothers to infants during gestation and lactation (the role of placenta), 6) extrapolation studies using rat models on the effects of prenatal methylmercury exposure on the human brain, and 7) risks and benefits of fish consumption.

  4. The importance of studying sex differences in disease: The example of multiple sclerosis.

    PubMed

    Golden, Lisa C; Voskuhl, Rhonda

    2017-01-02

    To date, scientific research has often focused on one sex, with assumptions that study of the other sex would yield similar results. However, many diseases affect males and females differently. The sex of a patient can affect the risk for both disease susceptibility and progression. Such differences can be brought to the laboratory bench to be investigated, potentially bringing new treatments back to the clinic. This method of research, known as a "bedside to bench to bedside" approach, has been applied to studying sex differences in multiple sclerosis (MS). Females have greater susceptibly to MS, while males have worse disease progression. These two characteristics of the disease are influenced by the immune system and the nervous system, respectively. Thus, sex differences in each system must be studied. Personalized medicine has been at the forefront of research recently, and studying sex differences in disease fits with this initiative. This review will discuss the known sex differences in MS and highlight how investigating them can lead to new insights and potential treatments for both men and women. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Neurological diseases and bullous pemphigoid: A case-control study in Iranian patients.

    PubMed

    Daneshpazhooh, Maryam; Khorassani, Javad; Balighi, Kamran; Ghandi, Narges; Mahmoudi, Hamidreza; Tohidinik, Hamidreza; Hamzelou, Shahin; Chams-Davatchi, Cheyda

    2017-01-01

    Neurological diseases are important co-morbidities found in association with bullous pemphigoid. Various neurological conditions (stroke, Parkinson's disease, dementia, epilepsy and multiple sclerosis) have been reported as associations of this bullous disease; whether these are significant has not been definitely proved. However, the presence of neurological conditions is a predictor of poorer prognosis. Our aim was to examine the association of bullous pemphigoid and neurological diseases in Iranian bullous pemphigoid patients. The medical records of one hundred and sixty consecutive bullous pemphigoid patients who presented to the Autoimmune Bullous Diseases Research Center, Tehran, Iran, from 2006 to 2011 were examined for evidence of any neurological disease. The control group comprised of 317 age- and sex-matched subjects. Neurological diseases were seen in 42 (26.4%) patients with bullous pemphigoid and in 29 (9.1%) controls (odds ratio: 3.53 (2.1-5.9), P< 0.001). Comparing cases to controls, stroke was seen in 17.5% versus 4.1%, odds ratio 4.96 (2.49-9.88); dementia in 5.6% versus 1.9%, odds ratio 3.09 (1.08-8.84); Parkinson's disease in 2.5% versus 2.2%, odds ratio 1.14 (0.33-3.94); epilepsy in 2.5% versus 0.6%, odds ratio 4.04 (0.73-22.3); and multiple sclerosis in 0 versus 0.3% odds ratio 1.00 (0.98-1.01). The main limitations of our study were referral bias, retrospective design and a rather low sample size. Neurological diseases in general, and stroke and dementia in particular, were significantly associated with bullous pemphigoid in our study.

  6. Maternal Autoimmune Disease and Birth Defects in the National Birth Defects Prevention Study

    PubMed Central

    Howley, Meredith M.; Browne, Marilyn L.; Van Zutphen, Alissa R.; Richardson, Sandra D.; Blossom, Sarah J.; Broussard, Cheryl S.; Carmichael, Suzan L.; Druschel, Charlotte M.

    2017-01-01

    Background Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case–control study. Methods Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. Results Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95–11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37–24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16–7.80). Conclusion Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. PMID:27891777

  7. The Role of DNA Methylation in Cardiovascular Risk and Disease: Methodological Aspects, Study Design, and Data Analysis for Epidemiological Studies.

    PubMed

    Zhong, Jia; Agha, Golareh; Baccarelli, Andrea A

    2016-01-08

    Epidemiological studies have demonstrated that genetic, environmental, behavioral, and clinical factors contribute to cardiovascular disease development. How these risk factors interact at the cellular level to cause cardiovascular disease is not well known. Epigenetic epidemiology enables researchers to explore critical links between genomic coding, modifiable exposures, and manifestation of disease phenotype. One epigenetic link, DNA methylation, is potentially an important mechanism underlying these associations. In the past decade, there has been a significant increase in the number of epidemiological studies investigating cardiovascular risk factors and outcomes in relation to DNA methylation, but many gaps remain in our understanding of the underlying cause and biological implications. In this review, we provide a brief overview of the biology and mechanisms of DNA methylation and its role in cardiovascular disease. In addition, we summarize the current evidence base in epigenetic epidemiology studies relevant to cardiovascular health and disease and discuss the limitations, challenges, and future directions of the field. Finally, we provide guidelines for well-designed epigenetic epidemiology studies, with particular focus on methodological aspects, study design, and analytical challenges. © 2016 American Heart Association, Inc.

  8. PARACOCCIDIOIDOMYCOSIS: CHALLENGES IN THE DEVELOPMENT OF A VACCINE AGAINST AN ENDEMIC MYCOSIS IN THE AMERICAS

    PubMed Central

    TABORDA, Carlos. P.; URÁN, M.E.; NOSANCHUK, J. D.; TRAVASSOS, L.R.

    2015-01-01

    SUMMARY Paracoccidioidomycosis (PCM), caused by Paracoccidioides spp, is an important endemic mycosis in Latin America. There are two recognized Paracoccidioides species, P. brasiliensis and P. lutzii, based on phylogenetic differences; however, the pathogenesis and disease manifestations of both are indistinguishable at present. Approximately 1,853 (~51,2%) of 3,583 confirmed deaths in Brazil due to systemic mycoses from 1996-2006 were caused by PCM. Antifungal treatment is required for patients with PCM. The initial treatment lasts from two to six months and sulfa derivatives, amphotericin B, azoles and terbinafine are used in clinical practice; however, despite prolonged therapy, relapses are still a problem. An effective Th1-biased cellular immune response is essential to control the disease, which can be induced by exogenous antigens or modulated by prophylactic or therapeutic vaccines. Stimulation of B cells or passive transference of monoclonal antibodies are also important means that may be used to improve the efficacy of paracoccidioidomycosis treatment in the future. This review critically details major challenges facing the development of a vaccine to combat PCM. PMID:26465365

  9. Imported Acquired Immunodeficiency Syndrome–Related Histoplasmosis in Metropolitan France: A Comparison of Pre–Highly Active Anti-Retroviral Therapy and Highly Active Anti-Retroviral Therapy Eras

    PubMed Central

    Peigne, Vincent; Dromer, Françoise; Elie, Caroline; Lidove, Olivier; Lortholary, Olivier

    2011-01-01

    Histoplasma capsulatum var. capsulatum infection is rare outside disease-endemic areas. Clinical presentation and outcome of acquired immunodeficiency syndrome–related histoplasmosis are unknown in non-endemic areas with wide access to highly active anti-retroviral therapy (HAART). Retrospective analysis of cases recorded at the French National Reference Center for Mycoses and Antifungals during two decades: pre-HAART (1985–1994) and HAART (1997–2006). Clinical features and outcome of all adults with proven acquired immunodeficiency syndrome–related histoplasmosis were compared between the two periods. One hundred four patients were included (40 during the pre-HAART era and 64 during the HAART era). Diagnosis was established a mean of 62 days after onset of symptoms. One-year overall mortality rates decreased from 53% (pre-HAART era) to 22% (HAART era). Diagnosis during the pre-HAART era and an older age were the only independent factors associated with death. Histoplasmosis is a rare invasive fungal infection outside disease-endemic areas. Its prognosis improved significantly during the HAART era. PMID:22049053

  10. Prevalence and patterns of neurological involvement in Behcet's disease: a prospective study from Iraq

    PubMed Central

    Al-Araji, A; Sharquie, K; Al-Rawi, Z

    2003-01-01

    Objectives: To determine the prevalence of neurological involvement in Behcet's disease in a prospective study, and to describe the clinical patterns of neurological presentation in this disease in patients attending a multidisciplinary clinic in Baghdad. Methods: All patients attending the clinic who fulfilled the international study group criteria for the diagnosis of Behcet's disease were studied during a two year period starting in April 1999. Patients were assessed neurologically by a neuro-Behcetologist. All those with clinical neurological manifestations were sent for CSF examination, cranial magnetic resonance imaging, and magnetic resonance venography and were followed up to explore the patterns of neurological relapse. Results: 140 patients with Behcet's disease were studied. Their mean age was 34.2 years (range 16 to 66); 105 (75%) were men and 35 (25%) were women. The mean duration of the disease was 4.2 years (range 0.4 to 26). Twenty patients (14%) had neurological involvement (neuro-Behcet's disease); 14 of these (70%) were men and six (30%) women. The mean age at the first neurological presentation was 34.1 years. The mean duration of follow up of patients with neuro-Behcet's disease was 20.7 months. Ten patients with neuro-Behcet's disease (50%) presented with parenchymal CNS involvement, six (30%) with intracranial hypertension, and four (20%) with a mixed pattern of both parenchymal CNS involvement and intracranial hypertension. Conclusions: Careful neurological assessment of patients with Behcet's disease may show a relatively high prevalence of neuro-Behcet features, and though the clinical patterns of presentation are characteristic a mixed pattern may occur. PMID:12700303

  11. Economic Studies in Motor Neurone Disease: A Systematic Methodological Review.

    PubMed

    Moore, Alan; Young, Carolyn A; Hughes, Dyfrig A

    2017-04-01

    Motor neurone disease (MND) is a devastating condition which greatly diminishes patients' quality of life and limits life expectancy. Health technology appraisals of future interventions in MND need robust data on costs and utilities. Existing economic evaluations have been noted to be limited and fraught with challenges. The aim of this study was to identify and critique methodological aspects of all published economic evaluations, cost studies, and utility studies in MND. We systematically reviewed all relevant published studies in English from 1946 until January 2016, searching the databases of Medline, EMBASE, Econlit, NHS Economic Evaluation Database (NHS EED) and the Health Economics Evaluation Database (HEED). Key data were extracted and synthesised narratively. A total of 1830 articles were identified, of which 15 economic evaluations, 23 cost and 3 utility studies were included. Most economic studies focused on riluzole (n = 9). Six studies modelled the progressive decline in motor function using a Markov design but did not include mutually exclusive health states. Cost estimates for a number of evaluations were based on expert opinion and were hampered by high variability and location-specific characteristics. Few cost studies reported disease-stage-specific costs (n = 3) or fully captured indirect costs. Utilities in three studies of MND patients used the EuroQol EQ-5D questionnaire or standard gamble, but included potentially unrepresentative cohorts and did not consider any health impacts on caregivers. Economic evaluations in MND suffer from significant methodological issues such as a lack of data, uncertainty with the disease course and use of inappropriate modelling framework. Limitations may be addressed through the collection of detailed and representative data from large cohorts of patients.

  12. Genetic Expression in Cystic Fibrosis Related Bone Disease. An Observational, Transversal, Cross-Sectional Study.

    PubMed

    Ciuca, Ioana M; Pop, Liviu L; Rogobete, Alexandru F; Onet, Dan I; Guta-Almajan, Bogdan; Popa, Zoran; Horhat, Florin G

    2016-09-01

    Cystic fibrosis (CF) is the most frequent monogenic genetic disease with autosomal recessive transmission and characterized by important clinical polymorphism and significant lethal prospective. CF related bone disease occurs frequently in adults with CF. Childhood is the period of bone formation, and therefore, children are more susceptible to low bone density. Several factors like pancreatic insufficiency, hormone imbalance, and physical inactivity contribute to CF bone disease development. Revealing this would be important for prophylactic treatment against bone disease occurrence. The study was observational, transversal, with a cross-sectional design. The study included 68 children with cystic fibrosis, genotyped and monitored in the National CF Centre. At the annual assessment, besides clinical examination, biochemical evaluation for pancreatic insufficiency, and diabetes, they were evaluated for bone mineral density using dual energy X-ray absorptiometry (DXA). Twenty-six patients, aged over 10 years were diagnosed with CF bone disease, without significant gender gap. Bone disease was frequent in patients aged over 10 years with exocrine pancreatic insufficiency, carriers of severe mutations, and CF liver disease. CF carriers of a severe genotype which associates pancreatic insufficiency and CF liver disease, are more likely predisposed to low bone mineral density. Further studies should discover other significant influences in order to prevent the development of CF bone disease and an improved quality of life in cystic fibrosis children.

  13. A comparison study of children with sickle cell disease and their non-diseased siblings on hopelessness, depression, and perceived competence.

    PubMed

    Lee, E J; Phoenix, D; Brown, W; Jackson, B S

    1997-01-01

    The purpose of this comparison study was to explore the extent to which hopelessness and self-perceptions of competence are associated with depression in a community population of children with sickle cell disease compared to their non-diseased siblings. Subjects were African-American children drawn randomly from the case management programme at the L.D. Barksdale Sickle Cell Anemia Foundation. Depression scores were higher for the non-diseased siblings. The children with sickle cell disease scored lower on the perceived physical competence scale. Recommendations for practice include increasing hope, improving relationships, monitoring depression in patients and their siblings, and monitoring perceptions of cognitive, social, physical, and general self-worth.

  14. Habitual coffee consumption and risk of type 2 diabetes, ischemic heart disease, depression and Alzheimer's disease: a Mendelian randomization study.

    PubMed

    Kwok, Man Ki; Leung, Gabriel M; Schooling, C Mary

    2016-11-15

    Observationally, coffee is inversely associated with type 2 diabetes mellitus (T2DM), depression and Alzheimer's disease, but not ischemic heart disease (IHD). Coffee features as possibly protective in the 2015 Dietary Guidelines for Americans. Short-term trials suggest coffee has neutral effect on most glycemic traits, but raises lipids and adiponectin. To clarify we compared T2DM, depression, Alzheimer's disease, and IHD and its risk factors by genetically predicted coffee consumption using two-sample Mendelian randomization applied to large extensively genotyped case-control and cross-sectional studies. Childhood cognition was used as a negative control outcome. Genetically predicted coffee consumption was not associated with T2DM (odds ratio (OR) 1.02, 95% confidence interval (CI) 0.76 to 1.36), depression (0.89, 95% CI 0.66 to 1.21), Alzheimer's disease (1.17, 95% CI 0.96 to 1.43), IHD (0.96, 95% CI 0.80 to 1.14), lipids, glycemic traits, adiposity or adiponectin. Coffee was unrelated to childhood cognition. Consistent with observational studies, coffee was unrelated to IHD, and, as expected, childhood cognition. However, contrary to observational findings, coffee may not have beneficial effects on T2DM, depression or Alzheimer's disease. These findings clarify the role of coffee with relevance to dietary guidelines and suggest interventions to prevent these complex chronic diseases should be sought elsewhere.

  15. An epidemiological study of the association of coffee with chronic liver disease.

    PubMed

    Walton, H B; Masterton, G S; Hayes, P C

    2013-11-01

    Chronic liver disease affects 855 people per million in the UK. Previous studies have reported that coffee appears protective against the development of abnormal liver enzymes, hepatic fibrosis and cirrhosis. The aim of this study, the first in a Scottish population, was to compare coffee consumption in patients with liver disease and that of control populations to determine correlations between coffee intake and the incidence of non-cancerous liver disease and with Child's-Pugh and model for end-stage liver disease (MELD) scores. Two hundred and eighty-six patients attending the liver outpatient department at the Royal Infirmary of Edinburgh completed a questionnaire regarding coffee consumption and lifestyle factors. Control questionnaires were also completed by 100 orthopaedic outpatients and 120 medical students. Patients with cirrhosis (n = 95) drank significantly less coffee than those without cirrhosis (p = <0.001). There was no correlation between Child's-Pugh (-0.018) and MELD scores (-0.132) with coffee consumption. Coffee drinking is associated with a reduced prevalence of cirrhosis in patients with chronic liver disease. However, there was no significant difference in the amount of coffee drunk by liver patients and the control groups. It is possible that by changing the amount of coffee drunk, the development of cirrhosis in liver disease could be postponed.

  16. Early menopause predicts future coronary heart disease and stroke: the Multi-Ethnic Study of Atherosclerosis.

    PubMed

    Wellons, Melissa; Ouyang, Pamela; Schreiner, Pamela J; Herrington, David M; Vaidya, Dhananjay

    2012-10-01

    Cardiovascular disease is the number one killer of women. Identifying women at risk of cardiovascular disease has tremendous public health importance. Early menopause is associated with increased cardiovascular disease events in some predominantly white populations, but not consistently. Our objective was to determine if self-reported early menopause (menopause at an age <46 y) identifies women as at risk for future coronary heart disease or stroke. The study population came from the Multi-Ethnic Study of Atherosclerosis, a longitudinal, ethnically diverse cohort study of US men and women aged 45 to 84 years enrolled in 2000-2002 and followed up until 2008. The association between a personal history of early menopause (either natural menopause or surgical removal of ovaries at an age <46 y) and future coronary heart disease and stroke was assessed in 2,509 women (ages 45-84 y; 987 white, 331 Chinese, 641 black, and 550 Hispanic) from the Multi-ethnic Study Atherosclerosis who were free of cardiovascular disease at baseline. Of 2,509 women, 693 (28%) reported either surgical or natural early menopause. In survival curves, women with early menopause had worse coronary heart disease and stroke-free survival (log rank P = 0.008 and P = 0.0158). In models adjusted for age, race/ethnicity, Multi-ethnic Study Atherosclerosis site, and traditional cardiovascular disease risk factors, this risk for coronary heart disease and stroke remained (hazard ratio, 2.08; 95% CI, 1.17-3.70; and hazard ratio, 2.19; 95% CI, 1.11-4.32, respectively). Early menopause is positively associated with coronary heart disease and stroke in a multiethnic cohort, independent of traditional cardiovascular disease risk factors.

  17. Longitudinal Associations of Smoke-Free Policies and Incident Cardiovascular Disease: CARDIA Study.

    PubMed

    Mayne, Stephanie L; Widome, Rachel; Carroll, Allison J; Schreiner, Pamela J; Gordon-Larsen, Penny; Jacobs, David R; Kershaw, Kiarri N

    2018-05-07

    Background -Smoke-free legislation has been associated with lower rates of cardiovascular disease hospital admissions in ecological studies. However, prior studies lacked detailed information on individual-level factors (eg, sociodemographic and clinical characteristics) that could potentially confound associations. Our objective was to estimate associations of smoke-free policies with incident cardiovascular disease in a longitudinal cohort after controlling for sociodemographics, cardiovascular disease risk factors, and policy covariates. Methods -Longitudinal data from 3783 black and white adults in the CARDIA study (Coronary Artery Risk Development in Young Adults; 1995-2015) were linked to state, county, and local 100% smoke-free policies in bars, restaurants, and nonhospitality workplaces by Census tract. Extended Cox regression estimated hazard ratios (HRs) of incident cardiovascular disease associated with time-dependent smoke-free policy exposures. Models were adjusted for sociodemographic characteristics, cardiovascular disease risk factors, state cigarette tax, participant-reported presence of a smoking ban at their workplace, field center, and metropolitan statistical area poverty. Results -During a median follow-up of 20 years (68 332 total personyears), 172 participants had an incident cardiovascular disease event (2.5 per 1000 person-years). Over the follow-up period, 80% of participants lived in areas with smoke-free policies in restaurants, 67% in bars, and 65% in nonhospitality workplaces. In fully adjusted models, participants living in an area with a restaurant, bar, or workplace smoke-free policy had a lower risk of incident cardiovascular disease compared with those in areas without smoke-free policies (HR, 0.75, 95% confidence interval, 0.49-1.15; HR, 0.76, 95% confidence interval, 0.47-1.24; HR, 0.54, 95% confidence interval, 0.34-0.86, respectively; HR, 0.58, 95% confidence interval, 0.33-1.00 for living in an area with all 3 types of

  18. Progression marker of Parkinson's disease: a 4-year multi-site imaging study.

    PubMed

    Burciu, Roxana G; Ofori, Edward; Archer, Derek B; Wu, Samuel S; Pasternak, Ofer; McFarland, Nikolaus R; Okun, Michael S; Vaillancourt, David E

    2017-08-01

    Progression markers of Parkinson's disease are crucial for successful therapeutic development. Recently, a diffusion magnetic resonance imaging analysis technique using a bitensor model was introduced allowing the estimation of the fractional volume of free water within a voxel, which is expected to increase in neurodegenerative disorders such as Parkinson's disease. Prior work demonstrated that free water in the posterior substantia nigra was elevated in Parkinson's disease compared to controls across single- and multi-site cohorts, and increased over 1 year in Parkinson's disease but not in controls at a single site. Here, the goal was to validate free water in the posterior substantia nigra as a progression marker in Parkinson's disease, and describe the pattern of progression of free water in patients with a 4-year follow-up tested in a multicentre international longitudinal study of de novo Parkinson's disease (http://www.ppmi-info.org/). The analyses examined: (i) 1-year changes in free water in 103 de novo patients with Parkinson's disease and 49 controls; (ii) 2- and 4-year changes in free water in a subset of 46 patients with Parkinson's disease imaged at baseline, 12, 24, and 48 months; (iii) whether 1- and 2-year changes in free water predict 4-year changes in the Hoehn and Yahr scale; and (iv) the relationship between 4-year changes in free water and striatal binding ratio in a subgroup of Parkinson's disease who had undergone both diffusion and dopamine transporter imaging. Results demonstrated that: (i) free water level in the posterior substantia nigra increased over 1 year in de novo Parkinson's disease but not in controls; (ii) free water kept increasing over 4 years in Parkinson's disease; (iii) sex and baseline free water predicted 4-year changes in free water; (iv) free water increases over 1 and 2 years were related to worsening on the Hoehn and Yahr scale over 4 years; and (v) the 4-year increase in free water was associated with the 4-year

  19. The Videofluorographic Swallowing Study in Rheumatologic Diseases: A Comprehensive Review

    PubMed Central

    Di Piazza, Ambra; Costanzo, Massimo; Scopelliti, Laura; Salvaggi, Francesco; Cupido, Francesco; Salerno, Sergio; Lo Casto, Antonio; Midiri, Massimo; Lo Re, Giuseppe; Lagalla, Roberto

    2017-01-01

    Autoimmune connective tissue diseases are a heterogeneous group of pathologies that affect about 10% of world population with chronic evolution in 20%–80%. Inflammation in autoimmune diseases may lead to serious damage to other organs including the gastrointestinal tract. Gastrointestinal tract involvement in these patients may also due to both a direct action of antibodies against organs and pharmacological therapies. Dysphagia is one of the most important symptom, and it is caused by failure of the swallowing function and may lead to aspiration pneumonia, malnutrition, dehydration, weight loss, and airway obstruction. The videofluorographic swallowing study is a key diagnostic tool in the detection of swallowing disorders, allowing to make an early diagnosis and to reduce the risk of gastrointestinal and pulmonary complications. This technique helps to identify both functional and structural anomalies of the anatomic chain involved in swallowing function. The aim of this review is to systematically analyze the basis of the pathological involvement of the swallowing function for each rheumatological disease and to show the main features of the videofluorographic study that may be encountered in these patients. PMID:28706536

  20. National Burden of Eye Diseases in Iran, 1990-2010; Findings from the Global Burden of Diseases Study 2010.

    PubMed

    Hatef, Elham; Mohammadi, Seyed-Farzad; Alinia, Cyrus; Ashrafi, Elham; Mohammadi, S-Mehrdad; Lashay, Alireza; Sadeghi-Tari, Ali

    2016-01-01

    The disability-adjusted life-years (DALYs) lost due to eye diseases and trends in DALYs in Iran has not been previously reported. The object of this study is to report the burden of eye diseases in Iran and to compare changes from 1990 to 2010 based on age and gender. Data from the Global Burden of Disease Study 2010 (GBD 2010) are used to report DALYs for cataract, refraction/accommodation (functional) disorders, macular degeneration, and glaucoma. Cataract, refraction/accommodation (functional) disorders, macular degeneration, and glaucoma were the 84(th), 87(th), 138(th), and 151(st) causes of DALY in 1990 and the 89(th), 72(nd), 99(th), and 137(th) in 2010, respectively. Cataract accounted for 0.085% of national DALY in 1990 and 0.09% in 2010, refraction/accommodation (functional) disorders accounted for 0.42% in 1990 and 0.47% in 2010, macular degeneration accounted for 0.017% in 1990 and 0.071% in 2010 and glaucoma accounted for 0.0099% in 1990 and 0.025% in 2010. There was a steady increase in DALY with age for each eye disease for both genders and dichotomized for males and females from 1990 to 2010. Epidemiologic transition is reflected in major ophthalmic and blinding diseases in the GBD data for Iran. The burden of macular degeneration is rising, followed by glaucoma. The burden of presbyopia affected individuals past their middle age. The burden of cataract manifested as a slower increase that could be attributable to better access to treatment.

  1. Chronic disease prevalence in women and air pollution--A 30-year longitudinal cohort study.

    PubMed

    To, Teresa; Zhu, Jingqin; Villeneuve, Paul J; Simatovic, Jacqueline; Feldman, Laura; Gao, Chenwei; Williams, Devon; Chen, Hong; Weichenthal, Scott; Wall, Claus; Miller, Anthony B

    2015-07-01

    Air pollution, such as fine particulate matter (PM2.5), can increase risk of adverse health events among people with heart disease, diabetes, asthma and chronic obstructive pulmonary disease (COPD) by aggravating these conditions. Identifying the influence of PM2.5 on prevalence of these conditions may help target interventions to reduce disease morbidity among high-risk populations. The objective of this study is to measure the association of exposure of PM2.5 with prevalence risk of various chronic diseases among a longitudinal cohort of women. Women from Ontario who enrolled in the Canadian National Breast Screening Study (CNBSS) from 1980 to 1985 (n = 29,549) were linked to provincial health administrative data from April 1, 1992 to March 31, 2013 to determine the prevalence of major chronic disease and conditions (heart disease, diabetes, asthma, COPD, acute myocardial infarction, angina, stroke and cancers). Exposure to PM2.5 was measured using satellite data collected from January 1, 1998 to December 31, 2006 and assigned to resident postal-code at time of entry into study. Poisson regression models were used to describe the relationship between exposure to ambient PM2.5 and chronic disease prevalence. Prevalence rate ratios (PRs) were estimated while adjusting for potential confounders: baseline age, smoking, BMI, marital status, education and occupation. Separate models were run for each chronic disease and condition. Congestive heart failure (PR = 1.31, 95% CI: 1.13, 1.51), diabetes (PR = 1.28, 95% CI: 1.16, 1.41), ischemic heart disease (PR = 1.22, 95% CI: 1.14, 1.30), and stroke (PR = 1.21, 95% CI: 1.09, 1.35) showed over a 20% increase in PRs per 10 μg/m(3) increase in PM2.5 after adjusting for risk factors. Risks were elevated in smokers and those with BMI greater than 30. This study estimated significant elevated prevalent rate ratios per unit increase in PM2.5 in nine of the ten chronic diseases studied. Copyright © 2015 Elsevier Ltd. All rights

  2. Broad spectrum antidermatophytic drug for the control of tinea infection in human beings.

    PubMed

    Bhadauria, Seema; Kumar, Padma

    2012-07-01

    During antifungal evaluation of various plant extracts, free and bound flavonoids of Piper betle were found to be most effective as an antidermatophytic against human pathogenic dermatophytes Trichophyton rubrum, Trichophyton mentagrophytes, Microsporum gypseum and Candida albicans. Dermatophytic fungi cause both superficial and internal mycoses. These mycoses, although normally not lethal, are unpleasant and difficult to cure and cause considerable financial losses. Earlier workers prove that allopathic drugs are still found effective against dermatomycoses, but these drugs could not be accepted as a routine treatment for every case, because they are expensive and require long treatment. It is almost unaffordable by middle and lower class people. In view of such prospects and constraints, our aim was to explore more new compounds of plant origin for controlling dermatophytic infections. Author explored water, methanolic and flavonoid extracts for screening as antidermatophytic agent. Plant extracts that showed good results in vitro were selected for clinical studies. The study may give cheaper treatment for medium and lower class patients suffering with tinea and may provide them much relief. Well-established paper disc method was used for the screening of different extracts of their antidermatophytic activity. Moreover, it did not exhibit any adverse side effect on mammalian skin. Flavonoids in the form of ointment Pi be I and Pi be II were subjected to topical testing on patients attending out patients department of S.M.S. Hospital, Jaipur, India. Patients were diagnosed as tinea corporis, tinea capitis, tinea manum or tinea pedis. All patients showed positive potassium hydroxide (KOH) results at the beginning of trial. Patients between the ages of 3 months to 58 years were enrolled. At the end of treatment, while 64% of patients cured completely, 24% showed significant improvement and 12% showed little improvement from the disease. Allopathic treatment took

  3. Statistical Modeling of Disease Progression for Chronic Obstructive Pulmonary Disease Using Data from the ECLIPSE Study.

    PubMed

    Exuzides, Alex; Colby, Chris; Briggs, Andrew H; Lomas, David A; Rutten-van Mölken, Maureen P M H; Tabberer, Maggie; Chambers, Mike; Muellerova, Hana; Locantore, Nicholas; Risebrough, Nancy A; Ismaila, Afisi S; Gonzalez-McQuire, Sebastian

    2017-05-01

    To develop statistical models predicting disease progression and outcomes in chronic obstructive pulmonary disease (COPD), using data from ECLIPSE, a large, observational study of current and former smokers with COPD. Based on a conceptual model of COPD disease progression and data from 2164 patients, associations were made between baseline characteristics, COPD disease progression attributes (exacerbations, lung function, exercise capacity, and symptoms), health-related quality of life (HRQoL), and survival. Linear and nonlinear functional forms of random intercept models were used to characterize these relationships. Endogeneity was addressed by time-lagging variables in the regression models. At the 5% significance level, an exacerbation history in the year before baseline was associated with increased risk of future exacerbations (moderate: +125.8%; severe: +89.2%) and decline in lung function (forced expiratory volume in 1 second [FEV 1 ]) (-94.20 mL per year). Each 1% increase in FEV 1 % predicted was associated with decreased risk of exacerbations (moderate: -1.1%; severe: -3.0%) and increased 6-minute walk test distance (6MWD) (+1.5 m). Increases in baseline exercise capacity (6MWD, per meter) were associated with slightly increased risk of moderate exacerbations (+0.04%) and increased FEV 1 (+0.62 mL). Symptoms (dyspnea, cough, and/or sputum) were associated with an increased risk of moderate exacerbations (+13.4% to +31.1%), and baseline dyspnea (modified Medical Research Council score ≥2 v. <2) was associated with lower FEV 1 (-112.3 mL). A series of linked statistical regression equations have been developed to express associations between indicators of COPD disease severity and HRQoL and survival. These can be used to represent disease progression, for example, in new economic models of COPD.

  4. Maternal autoimmune disease and birth defects in the National Birth Defects Prevention Study.

    PubMed

    Howley, Meredith M; Browne, Marilyn L; Van Zutphen, Alissa R; Richardson, Sandra D; Blossom, Sarah J; Broussard, Cheryl S; Carmichael, Suzan L; Druschel, Charlotte M

    2016-11-01

    Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95-11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37-24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16-7.80). Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. Birth Defects Research (Part A) 106:950-962, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Physical disease and resilient outcomes: a systematic review of resilience definitions and study methods.

    PubMed

    Johnston, Marjorie C; Porteous, Terry; Crilly, Michael A; Burton, Christopher D; Elliott, Alison; Iversen, Lisa; McArdle, Karen; Murray, Alison; Phillips, Louise H; Black, Corri

    2015-01-01

    Findings from physical disease resilience research may be used to develop approaches to reduce the burden of disease. However, there is no consensus on the definition and measurement of resilience in the context of physical disease. The aim was to summarize the range of definitions of physical disease resilience and the approaches taken to study it in studies examining physical disease and its relationship to resilient outcomes. Electronic databases were searched from inception to March 2013 for studies in which physical disease was assessed for its association with resilient outcomes. Article screening, data extraction, and quality assessment were carried out independently by 2 reviewers, with disagreements being resolved by a third reviewer. The results were combined using a narrative technique. Of 2280 articles, 12 met the inclusion criteria. Of these studies, 1 was of high quality, 9 were of moderate quality, and 2 were low quality. The common findings were that resilience involves maintaining healthy levels of functioning following adversity and that it is a dynamic process not a personality trait. Studies either assessed resilience based on observed outcomes or via resilience measurement scales. They either considered physical disease as an adversity leading to resilience or as a variable modifying the relationship between adversity and resilience. This work begins building consensus as to the approach to take when defining and measuring physical disease resilience. Resilience should be considered as a dynamic process that varies across the life-course and across different domains, therefore the choice of a resilience measure should reflect this. Copyright © 2015 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

  6. Toxoplasma gondii exposure and Parkinson's disease: a case–control study

    PubMed Central

    Alvarado-Esquivel, Cosme; Méndez-Hernández, Edna Madai; Salas-Pacheco, José Manuel; Ruano-Calderón, Luis Ángel; Hernández-Tinoco, Jesús; Arias-Carrión, Oscar; Sánchez-Anguiano, Luis Francisco; Castellanos-Juárez, Francisco Xavier; Sandoval-Carrillo, Ada Agustina; Liesenfeld, Oliver; Ramos-Nevárez, Agar

    2017-01-01

    Objectives To determine the association between Toxoplasma gondii infection and Parkinson's disease and to investigate whether T. gondii seropositivity is associated with the general characteristics of patients with Parkinson's disease. Design Case–control study. Setting Cases and controls were enrolled in Durango City, Mexico. Participants 65 patients with Parkinson's disease and 195 age- and gender-matched control subjects without Parkinson's disease. Primary and secondary outcome measures Serum samples of participants were analysed for anti-T. gondii IgG and IgM antibodies by commercially available enzyme-linked immunoassays. Prevalence of T. gondii DNA was determined in seropositive subjects using PCR. The association between clinical data and infection was examined by bivariate analysis. Results Anti-T. gondii IgG antibodies were found in 6/65 cases (9.2%) and in 21/195 controls (10.8%) (OR 0.84; 95% CI 0.32 to 2.18; p=0.81). The frequency of high (>150 IU/mL) antibody levels was similar among cases and controls (p=0.34). None of the anti-T. gondii IgG positive cases and four of the anti-T. gondii IgG positive controls had anti-T. gondii IgM antibodies (p=0.54). The prevalence of T. gondii DNA was comparable in seropositive cases and controls (16.7% and 25%, respectively; p=1.0). Seroprevalence of T. gondii infection was associated with a young age onset of disease (p=0.03), high Unified Parkinson Disease Rating Scale scores (p=0.04) and depression (p=0.02). Seropositivity to T. gondii infection was lower in patients treated with pramipexole than in patients without this treatment (p=0.01). However, none of the associations remained significant after Bonferroni correction. Conclusions The results do not support an association between T. gondii infection and Parkinson's disease. However, T. gondii infection might have an influence on certain symptoms of Parkinson's disease. Further research to elucidate the role of T. gondii exposure on Parkinson's disease

  7. Roles of amino acids in preventing and treating intestinal diseases: recent studies with pig models.

    PubMed

    Liu, Yulan; Wang, Xiuying; Hou, Yongqing; Yin, Yulong; Qiu, Yinsheng; Wu, Guoyao; Hu, Chien-An Andy

    2017-08-01

    Animal models are needed to study and understand a human complex disease. Because of their similarities in anatomy, structure, physiology, and pathophysiology, the pig has proven its usefulness in studying human gastrointestinal diseases, such as inflammatory bowel disease, ischemia/reperfusion injury, diarrhea, and cancer. To understand the pathogenesis of these diseases, a number of experimental models generated in pigs are available, for example, through surgical manipulation, chemical induction, microbial infection, and genetic engineering. Our interests have been using amino acids as therapeutics in pig and human disease models. Amino acids not only play an important role in protein biosynthesis, but also exert significant physiological effects in regulating immunity, anti-oxidation, redox regulation, energy metabolism, signal transduction, and animal behavior. Recent studies in pigs have shown that specific dietary amino acids can improve intestinal integrity and function under normal and pathological conditions that protect the host from different diseases. In this review, we summarize several pig models in intestinal diseases and how amino acids can be used as therapeutics in treating pig and human diseases.

  8. Health Performance and Challenges in Korea: a Review of the Global Burden of Disease Study 2013.

    PubMed

    Lee, Yo Han; Yoon, Seok Jun; Kim, Arim; Seo, Hyeyoung; Ko, Seulki

    2016-11-01

    The global burden of disease study (GBD) provides valuable information for evaluating population health in terms of disease burden. This study collected and reviewed GBD data in Korea for the year 1990 and 2013. The burdens of cancer, cardiovascular disease, communicable disease, and injuries have decreased remarkably, thereby greatly diminishing the overall disease burden on Korea. Meanwhile, the burdens due to non-fatal chronic diseases such as neuropsychiatric and musculoskeletal disease became major burden contributors. Responding to this circumstance presents a complex challenge to the Korean health system and Korean health policy.

  9. Health Performance and Challenges in Korea: a Review of the Global Burden of Disease Study 2013

    PubMed Central

    2016-01-01

    The global burden of disease study (GBD) provides valuable information for evaluating population health in terms of disease burden. This study collected and reviewed GBD data in Korea for the year 1990 and 2013. The burdens of cancer, cardiovascular disease, communicable disease, and injuries have decreased remarkably, thereby greatly diminishing the overall disease burden on Korea. Meanwhile, the burdens due to non-fatal chronic diseases such as neuropsychiatric and musculoskeletal disease became major burden contributors. Responding to this circumstance presents a complex challenge to the Korean health system and Korean health policy. PMID:27775248

  10. Association between bullous pemphigoid and neurologic diseases: a case-control study.

    PubMed

    Casas-de-la-Asunción, E; Ruano-Ruiz, J; Rodríguez-Martín, A M; Vélez García-Nieto, A; Moreno-Giménez, J C

    2014-11-01

    In the past 10 years, bullous pemphigoid has been associated with other comorbidities and neurologic and psychiatric conditions in particular. Case series, small case-control studies, and large population-based studies in different Asian populations, mainland Europe, and the United Kingdom have confirmed this association. However, no data are available for the Spanish population. This was an observational, retrospective, case-control study with 1:2 matching. Fifty-four patients with bullous pemphigoid were selected. We compared the percentage of patients in each group with concurrent neurologic conditions, ischemic heart disease, diabetes, chronic obstructive pulmonary disease, and solid tumors using univariate logistic regression. An association model was constructed with conditional multiple logistic regression. The case group had a significantly higher percentage of patients with cerebrovascular accident and/or transient ischemic attack (odds ratio [OR], 3.06; 95% CI, 1.19-7.87], dementia (OR, 5.52; 95% CI, 2.19-13.93), and Parkinson disease (OR, 5; 95% CI, 1.57-15.94). A significantly higher percentage of cases had neurologic conditions (OR, 6.34; 95% CI, 2.89-13.91). Dementia and Parkinson disease were independently associated with bullous pemphigoid in the multivariate analysis. Patients with bullous pemphigoid have a higher frequency of neurologic conditions. Copyright © 2013 Elsevier España, S.L.U. and AEDV. All rights reserved.

  11. Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

    PubMed

    Raelson, John V; Little, Randall D; Ruether, Andreas; Fournier, Hélène; Paquin, Bruno; Van Eerdewegh, Paul; Bradley, W E C; Croteau, Pascal; Nguyen-Huu, Quynh; Segal, Jonathan; Debrus, Sophie; Allard, René; Rosenstiel, Philip; Franke, Andre; Jacobs, Gunnar; Nikolaus, Susanna; Vidal, Jean-Michel; Szego, Peter; Laplante, Nathalie; Clark, Hilary F; Paulussen, René J; Hooper, John W; Keith, Tim P; Belouchi, Abdelmajid; Schreiber, Stefan

    2007-09-11

    Genome-wide association (GWA) studies offer a powerful unbiased method for the identification of multiple susceptibility genes for complex diseases. Here we report the results of a GWA study for Crohn's disease (CD) using family trios from the Quebec Founder Population (QFP). Haplotype-based association analyses identified multiple regions associated with the disease that met the criteria for genome-wide significance, with many containing a gene whose function appears relevant to CD. A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci NOD2 and IBD5. The recently described IL23R locus was also identified and replicated. For this region, multiple individuals with all major haplotypes in the QFP were sequenced and extensive fine mapping performed to identify risk and protective alleles. Several additional loci, including a region on 3p21 containing several plausible candidate genes, a region near JAKMIP1 on 4p16.1, and two larger regions on chromosome 17 were replicated. Together with previously published loci, the spectrum of CD genes identified to date involves biochemical networks that affect epithelial defense mechanisms, innate and adaptive immune response, and the repair or remodeling of tissue.

  12. Characterization of inflammatory cells in oral paracoccidioidomycosis.

    PubMed

    Kaminagakura, E; Bonan, P R F; Jorge, J; Almeida, O P; Scully, C

    2007-07-01

    Paracoccidioidomycosis (Pmycosis) is one of the most common deep mycoses in many regions of Latin America, particularly in Brazil. Microscopically, it shows granulomatous inflammatory reaction with giant cells, macrophages, lymphocytes, plasma cells, polymorphonuclear neutrophilic leukocytes, and eosinophils. The purpose of this study was to assess the distribution of inflammatory cells in oral Pmycosis. Fifteen cases of oral Pmycosis were studied by immunohistochemistry for the presence of macrophages, CD4(+) and CD8(+) lymphocytes, CD20(+), CD15(+), and S100(+) cells. Macrophages were the main cells in well-organized granulomas and non-granulomatous areas. The CD4 phenotype was predominant in well-organized granulomas and a balance between CD4(+) and CD8(+) cells was observed in non-granulomatous areas. Dendritic, S100(+) cells were found mainly in the epithelium, in subepithelial connective tissue, and at the periphery of organized granulomas. CD15(+) cells were concentrated mainly in areas of intraepithelial microabscess and ulceration. Macrophages and T cells are the predominant cells in oral Pmycosis. Well-organized granulomas contain fewer yeast particles, indicating a more effective host immune response. Better understanding of the histopathological changes in oral Pmycosis might help determine treatment, severity and systemic involvement of the disease.

  13. A retrospective study of disease in elasmobranchs.

    PubMed

    Garner, M M

    2013-05-01

    This report reviews diseases of 1546 elasmobranchs representing at least 60 species submitted to Northwest ZooPath from 1994 to 2010. Cownose rays (Rhinoptera bonasus) (78), southern rays (Dasyatis americana) (75), dusky smooth-hounds (Mustelus canis) (74), bonnethead sharks (Sphyrna tiburo) (66), and bamboo sharks (Hemiscylliidae) (56) were the most commonly submitted species. Infectious/inflammatory disease was most common (33.5%) followed by nutritional (11.9%, mostly emaciation), traumatic (11.3%), cardiovascular (5.5%, mostly shock), and toxin-associated disease (3.7%). Bacterial infections (518/1546, 15%) included sepsis (136/518, 26%), dermatitis (7%), branchitis (6%), and enteritis (4%). Fungal infections (10/1546, 0.6%) included dermatitis (30%), hepatitis (30%), and branchitis (20%). Viral or suspected viral infections or disease processes (15/1546, 1%) included papillomatosis (47%), herpesvirus (20%), and adenovirus (7%). Parasitic infections (137/1546, 9%) included nematodiasis (36/137, 26%), ciliate infections (23%), trematodiasis (20%), coccidiosis (6%), myxozoanosis (5%), amoebiasis (4%), cestodiasis (1%), and flagellate infections (1%). Inflammation of unknown cause (401/1546, 26%) included enteritis (55/401, 14%), branchitis (9%), encephalitis (9%), and dermatitis (7%). Traumatic diseases (174/1546, 11.3%) included skin trauma (103/174, 60%), stress/maladaptation (9%), and gut trauma (7%). Toxicoses (57/1546, 4%) included toxic gill disease (16/57, 26%), gas bubble disease (19%), fenbendazole (7%), ammonia (7%), chlorine (5%), and chloramine (3%). Species trends included visceral nematodiasis in black-nosed sharks (Carcharhinus acronotus) (55%); sepsis in dusky smooth-hounds (41%), blue-spotted stingrays (36%), southern rays (36%), and wobeggong sharks (Orectolobus spp) (69%); emaciation in bamboo (33%) and bonnethead (32%) sharks and freshwater stingrays (Potamotrygon motoro) (32%); and trauma in bonnethead sharks (30%).

  14. Wayfinding in ageing and Alzheimer's disease within a virtual senior residence: study protocol.

    PubMed

    Davis, Rebecca; Ohman, Jennifer

    2016-07-01

    To report a study protocol that examines the impact of adding salient cues in a virtual reality simulation of a senior residential building on wayfinding for older adults with and without Alzheimer's disease. An early symptom of Alzheimer's disease is the inability to find one's way (wayfinding). Senior residential environments are especially difficult for wayfinding. Salient cues may be able to help persons with Alzheimer's disease find their way more effectively so they can maintain independence. A repeated measures, within and between subjects design. This study was funded by the National Institutes of Health (August 2012). Older adults (N = 40) with normal cognition and older adults with early stage Alzheimer's disease/mild cognitive impairment (N = 40) will try to find their way to a location repeatedly in a virtual reality simulation of senior residence. There are two environments: standard (no cues) and salient (multiple cues). Outcome measures include how often and how quickly participants find the target location in each cue condition. The results of this study have the potential to provide evidence for ways to make the environment more supportive for wayfinding for older adults with Alzheimer's disease. This study is registered at Trialmatch.alz.org (Identifier 260425-5). © 2016 John Wiley & Sons Ltd.

  15. Study of plasma-derived miRNAs mimic differences in Huntington's disease brain.

    PubMed

    Hoss, Andrew G; Lagomarsino, Valentina N; Frank, Samuel; Hadzi, Tiffany C; Myers, Richard H; Latourelle, Jeanne C

    2015-12-01

    Biomarkers for Huntington's disease progression could accelerate therapeutic developments and improve patient care. Brain microRNAs relating to clinical features of Huntington's disease may represent a potential Huntington's disease biomarker in blood. This study was undertaken to examine candidate microRNAs in plasma to determine whether changes observed in HD brains are detectable in peripheral samples. Four microRNAs from 26 manifest Huntington's disease, four asymptomatic Huntington's disease gene carriers, and eight controls were quantified in plasma using reverse transcription quantitative polymerase chain reaction. Linear regression was used to assess microRNA levels across control, asymptomatic gene carriers, and manifest patients. miR-10b-5p (P = 0.0068) and miR-486-5p (P = 0.044) were elevated in Huntington's disease plasma. miR-10b-5p was decreased in asymptomatic gene carriers as compared with patients with Huntington's disease (P = 0.049), but no difference between asymptomatic gene carriers and healthy controls was observed (P = 0.24). These findings suggest that microRNA changes observed in Huntington's disease brain may be detectable in plasma and have potential clinical utility. © 2015 International Parkinson and Movement Disorder Society.

  16. Effect of study partner on the conduct of Alzheimer disease clinical trials

    PubMed Central

    Raman, Rema; Ernstrom, Karin; Aisen, Paul; Karlawish, Jason

    2013-01-01

    Objective: Alzheimer disease (AD) dementia clinical trials require 2 participants: a patient and a study partner. We assessed the prevalence of study partner types and how these types associate with patient-related outcome measures. Methods: Retrospective analyses of 6 Alzheimer’s Disease Cooperative Study (ADCS) randomized clinical trials were conducted. Study partners were categorized as spouse, adult child, or other. Prevalence of study partner type and associations between study partner type and trial outcomes including study completion and placebo decline on the Mini-Mental State Examination, the Alzheimer’s Disease Assessment Scale–cognitive subscale, the Clinical Dementia Rating scale Sum of the Boxes score, and the ADCS–Activities of Daily Living were examined. Results: More participants (67%) enrolled with spouses than adult children (26%) or other study partners (7%). Participants with spouse partners had a lower dropout rate (25%) than those with adult child (32%) or other study partners (34%); only the difference vs others was statistically significant. Participants with adult child and other partners randomized to placebo performed worse at baseline than those with spouse partners on the ADCS–Activities of Daily Living (p = 0.04), but were not different at 18 months. There were no differences at baseline for the Mini-Mental State Examination, Clinical Dementia Rating scale Sum of the Boxes score, or Alzheimer’s Disease Assessment Scale–cognitive subscale. In multivariate models of the rates of change over time among placebo participants, no differences among study partner groups reached statistical significance. Conclusions: Patients with nonspouse caregivers less frequently participate in AD dementia trials. Increased enrollment of AD patients with nonspouse caregivers may require additional recruitment and retention strategies. PMID:23255824

  17. The impact of daily temperature on renal disease incidence: an ecological study.

    PubMed

    Borg, Matthew; Bi, Peng; Nitschke, Monika; Williams, Susan; McDonald, Stephen

    2017-10-27

    Extremely high temperatures over many consecutive days have been linked to an increase in renal disease in several cities. This is becoming increasingly relevant with heatwaves becoming longer, more intense, and more frequent with climate change. This study aimed to extend the known relationship between daily temperature and kidney disease to include the incidence of eight temperature-prone specific renal disease categories - total renal disease, urolithiasis, renal failure, acute kidney injury (AKI), chronic kidney disease (CKD), urinary tract infections (UTIs), lower urinary tract infections (LUTIs) and pyelonephritis. Daily data was acquired for maximum, minimum and average temperature over the period of 1 July 2003 to 31 March 2014 during the warm season (October to March) in Adelaide, South Australia. Data for daily admissions to all metropolitan hospitals for renal disease, including 83,519 emergency department admissions and 42,957 inpatient admissions, was also obtained. Renal outcomes were analyzed using time-stratified negative binomial regression models, with the results aggregated by day. Incidence rate ratios (IRR) and 95% confidence intervals (CI) were estimated for associations between the number of admissions and daily temperature. Increases in daily temperature per 1 °C were associated with an increased incidence for all renal disease categories except for pyelonephritis. Minimum temperature was associated with the greatest increase in renal disease followed by average temperature and then maximum temperature. A 1°C increase in daily minimum temperature was associated with an increase in daily emergency department admissions for AKI (IRR 1.037, 95% CI: 1.026-1.048), renal failure (IRR 1.030, 95% CI: 1.022-1.039), CKD (IRR 1.017, 95% CI: 1.001-1.033) urolithiasis (IRR 1.015, 95% CI: 1.010-1.020), total renal disease (IRR 1.009, 95% CI: 1.006-1.011), UTIs (IRR 1.004, 95% CI: 1.000-1.007) and LUTIs (IRR 1.003, 95% CI: 1.000-1.006). An increased

  18. Linguistic ability in early life and the neuropathology of Alzheimer's disease and cerebrovascular disease. Findings from the Nun Study.

    PubMed

    Snowdon, D A; Greiner, L H; Markesbery, W R

    2000-04-01

    Findings from the Nun Study indicate that low linguistic ability in early life has a strong association with dementia and premature death in late life. In the present study, we investigated the relationship of linguistic ability in early life to the neuropathology of Alzheimer's disease and cerebrovascular disease. The analyses were done on a subset of 74 participants in the Nun Study for whom we had handwritten autobiographies completed some time between the ages of 19 and 37 (mean = 23 years). An average of 62 years after writing the autobiographies, when the participants were 78 to 97 years old, they died and their brains were removed for our neuropathologic studies. Linguistic ability in early life was measured by the idea (proposition) density of the autobiographies, i.e., a standard measure of the content of ideas in text samples. Idea density scores from early life had strong inverse correlations with the severity of Alzheimer's disease pathology in the neocortex: Correlations between idea density scores and neurofibrillary tangle counts were -0.59 for the frontal lobe, -0.48 for the temporal lobe, and -0.49 for the parietal lobe (all p values < 0.0001). Idea density scores were unrelated to the severity of atherosclerosis of the major arteries at the base of the brain and to the presence of lacunar and large brain infarcts. Low linguistic ability in early life may reflect suboptimal neurological and cognitive development, which might increase susceptibility to the development of Alzheimer's disease pathology in late life.

  19. The application of quantitative cytochemistry to the study of diseases of the connective tissues.

    PubMed

    Henderson, B

    1983-01-01

    The connective tissues are a complex organisation of tissues, cells and intercellular materials spread throughout the body and are subject to a large number of diseases. Such complexity makes the study of the metabolism of the connective tissues in health and more particularly in disease states difficult if one uses conventional biochemical methodology. Fortunately the techniques of quantitative cytochemistry, as developed in recent years, have made it possible to study the metabolism of even such complex and refractory connective tissues as bone. Using properly validated assays of enzyme activity in unfixed sections from various tissues a number of the diseases of the connective tissues have been studied. For example the synovia from patients with rheumatoid arthritis and related conditions have been studied using these techniques and marked alterations in the metabolism of the synovial lining cell population of this tissue have been demonstrated. These alterations in metabolism are believed to be related to the destruction of cartilage and bone found in such diseases. Investigations of the metabolism of the chondrocytes of articular cartilage in a strain of mice which spontaneously develops osteoarthritis has revealed a lack of certain key enzymes of carbohydrate metabolism in precisely those areas where degradation of the matrix of articular cartilage begins suggesting a causal relationship between these events. These same techniques have been used to study the cellular kinetics and metabolism of the dermis and epidermis in the disfiguring disease, psoriasis. The metabolism of healing bone fractures, the diagnosis and treatment of the mucopolysaccharidoses and the metabolic effects of currently used anti-inflammatory and anti-rheumatic drugs have also been examined. Perhaps the most exciting aspect of these studies has been the development and use of the technique of the cytochemical bioassay (CBA) to study hormonally mediated diseases of the connective tissues

  20. Exploratory study into awareness of heart disease and health care seeking behavior among Emirati women (UAE) - Cross sectional descriptive study.

    PubMed

    Khan, Sarah; Ali, Syed Adnan

    2017-09-26

    Cardiovascular disease was the leading cause of death among women in the United Arab Emirates (UAE) in 2010. Heart attacks usually happen in older women thus symptoms of heart disease may be masked by symptoms of chronic diseases, which could explain the delay in seeking health care and higher mortality following an ischaemic episode among women. This study seeks to a) highlight the awareness of heart diseases among Emirati women and b) to understand Emirati women's health care seeking behaviour in UAE. A cross sectional, descriptive study was conducted using a survey instrument adapted from the American Heart Association National survey. A convenience sample of 676 Emirati women between the ages of 18-55 years completed the questionnaire. The study showed low levels of awareness of heart disease and associated risk factors in Emirati women; only 19.4% participants were found to be aware of heart diseases. Awareness levels were highest in Dubai (OR 2.18, p < 0.05) among all the other emirates and in the 18-45 years age group (OR 2.74, p < 0.05). Despite low awareness levels, women paradoxically perceived themselves to be self-efficacious in seeking health care. Interestingly, just 49.1% Emirati women believed that good quality and affordable health care was available in the UAE. Only 28.8% of the participants believed there were sufficient female doctors to respond to health needs of women in UAE. Furthermore, only 36.7% Emirati women chose to be treated in the UAE over treatment in other countries. Emirati women clearly lack the knowledge on severity and vulnerability to heart disease in the region that is essential to improve cardiovascular related health outcomes. This study has identified the need for wider outreach that focuses on gender and age specific awareness on heart disease risks and symptoms. The study has also highlighted potential modifiable barriers in seeking health care that should be overcome to reduce morbidity and mortality due to heart

  1. Large-Scale Discovery of Disease-Disease and Disease-Gene Associations

    PubMed Central

    Gligorijevic, Djordje; Stojanovic, Jelena; Djuric, Nemanja; Radosavljevic, Vladan; Grbovic, Mihajlo; Kulathinal, Rob J.; Obradovic, Zoran

    2016-01-01

    Data-driven phenotype analyses on Electronic Health Record (EHR) data have recently drawn benefits across many areas of clinical practice, uncovering new links in the medical sciences that can potentially affect the well-being of millions of patients. In this paper, EHR data is used to discover novel relationships between diseases by studying their comorbidities (co-occurrences in patients). A novel embedding model is designed to extract knowledge from disease comorbidities by learning from a large-scale EHR database comprising more than 35 million inpatient cases spanning nearly a decade, revealing significant improvements on disease phenotyping over current computational approaches. In addition, the use of the proposed methodology is extended to discover novel disease-gene associations by including valuable domain knowledge from genome-wide association studies. To evaluate our approach, its effectiveness is compared against a held-out set where, again, it revealed very compelling results. For selected diseases, we further identify candidate gene lists for which disease-gene associations were not studied previously. Thus, our approach provides biomedical researchers with new tools to filter genes of interest, thus, reducing costly lab studies. PMID:27578529

  2. Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.

    PubMed

    Lee, James C; Biasci, Daniele; Roberts, Rebecca; Gearry, Richard B; Mansfield, John C; Ahmad, Tariq; Prescott, Natalie J; Satsangi, Jack; Wilson, David C; Jostins, Luke; Anderson, Carl A; Traherne, James A; Lyons, Paul A; Parkes, Miles; Smith, Kenneth G C

    2017-02-01

    For most immune-mediated diseases, the main determinant of patient well-being is not the diagnosis itself but instead the course that the disease takes over time (prognosis). Prognosis may vary substantially between patients for reasons that are poorly understood. Familial studies support a genetic contribution to prognosis, but little evidence has been found for a proposed association between prognosis and the burden of susceptibility variants. To better characterize how genetic variation influences disease prognosis, we performed a within-cases genome-wide association study in two cohorts of patients with Crohn's disease. We identified four genome-wide significant loci, none of which showed any association with disease susceptibility. Conversely, the aggregated effect of all 170 disease susceptibility loci was not associated with disease prognosis. Together, these data suggest that the genetic contribution to prognosis in Crohn's disease is largely independent of the contribution to disease susceptibility and point to a biology of prognosis that could provide new therapeutic opportunities.

  3. Celiac Disease Is Associated with Childhood Psychiatric Disorders: A Population-Based Study.

    PubMed

    Butwicka, Agnieszka; Lichtenstein, Paul; Frisén, Louise; Almqvist, Catarina; Larsson, Henrik; Ludvigsson, Jonas F

    2017-05-01

    To determine the risk of future childhood psychiatric disorders in celiac disease, assess the association between previous psychiatric disorders and celiac disease in children, and investigate the risk of childhood psychiatric disorders in siblings of celiac disease probands. This was a nationwide registry-based matched cohort study in Sweden with 10 903 children (aged <18 years) with celiac disease and 12 710 of their siblings. We assessed the risk of childhood psychiatric disorders (any psychiatric disorder, psychotic disorder, mood disorder, anxiety disorder, eating disorder, psychoactive substance misuse, behavioral disorder, attention-deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and intellectual disability). HRs of future psychiatric disorders in children with celiac disease and their siblings was estimated by Cox regression. The association between previous diagnosis of a psychiatric disorder and current celiac disease was assessed using logistic regression. Compared with the general population, children with celiac disease had a 1.4-fold greater risk of future psychiatric disorders. Childhood celiac disease was identified as a risk factor for mood disorders, anxiety disorders, eating disorders, behavioral disorders, ADHD, ASD, and intellectual disability. In addition, a previous diagnosis of a mood, eating, or behavioral disorder was more common before the diagnosis of celiac disease. In contrast, siblings of celiac disease probands were at no increased risk of any of the investigated psychiatric disorders. Children with celiac disease are at increased risk for most psychiatric disorders, apparently owing to the biological and/or psychological effects of celiac disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. A retrospective study of canine persistent nasal disease: 80 cases (1998–2003)

    PubMed Central

    Meler, Erika; Dunn, Marilyn; Lecuyer, Manon

    2008-01-01

    Persistent canine nasal disease is a common complaint in small animal practice; however, an etiologic diagnosis can be difficult to establish. The aim of this retrospective study was to determine the percentage of cases for which the etiology was determined in our hospital population. Medical records from 80 dogs met the criteria of inclusion in the study. Nonspecific rhinitis was identified in 23.7% of cases. Other diagnoses were neoplasia (15.0%), fungal infection (nasal aspergillosis) (8.7%), cleft palate (8.7%), periodontal disease (4.0%), parasites (1.3%), foreign body (1.3%), and primary bacterial disease (1.3%). A definitive diagnosis could not be established in 36.3% of cases. Dogs with neoplastic and mycotic diseases often presented with severe radiographic and rhinoscopic lesions. Despite a systematic approach, numerous cases went undiagnosed. The use of advanced imaging should increase our ability to obtain an etiologic diagnosis in canine nasal disease. PMID:18320982

  5. Exploring the quality of life issues in people with retinal diseases: a qualitative study.

    PubMed

    Prem Senthil, Mallika; Khadka, Jyoti; Gilhotra, Jagjit Singh; Simon, Sumu; Pesudovs, Konrad

    2017-01-01

    The lack of an appropriate retina-specific patient-reported outcome instrument restricts the understanding of the full impact of hereditary retinal diseases and other less common but potentially blinding acquired retinal diseases such as, vascular occlusions, epiretinal membrane, macular hole, central serous retinopathy and other vitreoretinopathies on quality of life. This study aims to explore the quality of life issues in people with hereditary retinal diseases and acquired retinal diseases to develop disease-specific patient-reported outcome instruments. A qualitative research methodology to understand the lived experiences of people with retinal diseases was carried out. Data were collected through semistructured interviews. The coding, aggregation and theme development was carried out using the NVivo -10 software. Seventy-nine interviews were conducted with participants with hereditary retinal diseases ( n  = 32; median age = 57 years) and acquired retinal diseases ( n  = 47; median age = 73 years). We identified nine quality of life themes (domains) relevant to people with retinal diseases. Difficulty in performing important day-to-day activities (activity limitation) was the most prominent quality of life issue in the hereditary retinal diseases group whereas concerns about health, disease outcome and personal safety (health concerns) was the most prominent quality of life issue in the acquired retinal diseases group. Participants with hereditary retinal diseases had more issues with social interaction (social well-being), problems with mobility and orientation (mobility), and effect on work and finance (economic) than participants with acquired retinal diseases. On the contrary, participants with acquired retinal diseases reported more inconveniences (conveniences) than participants with hereditary retinal diseases, which were mostly attributed to treatment. Participants with hereditary retinal diseases were coping better compared to participants

  6. Widowhood and severity of coronary artery disease: a multicenter study.

    PubMed

    Daoulah, Amin; Alama, Mohamed N; Elkhateeb, Osama E; Al-Murayeh, Mushabab; Al-Kaabi, Salem; Al-Faifi, Salem M; Alosaimi, Hind M; Lotfi, Amir; Asiri, Khalid S; Elimam, Ahmed M; Abougalambo, Ayman S; Murad, Waheed; Haddara, Mamdouh M; Dixon, Ciaran M; Alsheikh-Ali, Alawi A

    2017-03-01

    The aim of this study was to assess the association of widowhood with the severity and extent of coronary artery disease (CAD), and whether it is modified by sex or socioeconomic status. A total of 1068 patients undergoing coronary angiography at five centers in Saudi Arabia and the United Arab Emirates were included in the study. CAD was defined as more than 70% lumen stenosis in a major epicardial vessel or more than 50% in the left main coronary artery. Multivessel disease was defined as more than one diseased vessel. Of 1068 patients, 65 (6%) were widowed. Widowed patients were older (65±15 vs. 59±12), more likely to be female (75 vs. 25%), less likely to be smokers (18 vs. 47%), of lower economic and education status, and more likely to have undergone coronary angiography for urgent/emergent indications (75 vs. 61%) (P<0.05 for all). There was a significant association between widowhood and the number of coronary arteries with more than 70% lumen stenosis. Consequently, such a high degree of lumen stenosis in those who were widowed was more likely to require coronary artery bypass graft surgery (38 vs. 16%; P<0.01). After adjusting for baseline differences, widowhood was associated with a significantly higher odds of CAD [adjusted odds ratio (OR) 3.6; 95% confidence interval (CI) 1.2-10.5] and multivessel disease (adjusted OR 4.6; 95% CI 2.2-9.6), but not left main disease (adjusted OR 1.3; 95% CI 0.5-3.1). All associations were consistent in men and women and not modified by age, community setting (urban vs. rural), employment, income, or educational levels (Pinteraction>0.1 for all). Widowhood is associated with the severity and extent of CAD. The association is not modified by sex or socioeconomic status.

  7. Risk factors associated with asbestos-related diseases: a community-based case-control study.

    PubMed

    Rosell-Murphy, Magdalena-Isabel; Abós-Herràndiz, Rafael; Olivella, Josep Tarrés; Alberti-Casas, Constança; Allas, Isabel García; Artés, Xavier Martinez; Günther, Ilona Krier; Malet, Isidre Grimau; Martínez, Ramon Orriols; Canela-Soler, Jaume

    2013-08-06

    Asbestos is a first level carcinogen. However, few epidemiological studies analyse the risk and protective factors associated with asbestos-related diseases and follow up these conditions in the general population. Pleural mesothelioma, caused by inhalation of asbestos fibres at work, at home or in the environment, is the most representative asbestos-related disease.The objectives of this study are to analyse the risk and protective factors associated with asbestos-related diseases and to investigate the incidence of new clinical manifestations in patients already diagnosed with some form of ARD. We have designed a matched case-control study with follow up of both cohorts from a population of a health district of the Barcelona province that has been exposed to asbestos for a period of 90 years. A better understanding of asbestos-related diseases should improve i) the clinical and epidemiological follow up of patients with this condition; ii) the design of new treatment strategies; iii) and the development of preventive activities. At the end of the study, the two cohorts created in this study (affected cases and healthy controls) will constitute the basis for future research.

  8. Risk factors associated with asbestos-related diseases: a community-based case–control study

    PubMed Central

    2013-01-01

    Background Asbestos is a first level carcinogen. However, few epidemiological studies analyse the risk and protective factors associated with asbestos-related diseases and follow up these conditions in the general population. Pleural mesothelioma, caused by inhalation of asbestos fibres at work, at home or in the environment, is the most representative asbestos-related disease. The objectives of this study are to analyse the risk and protective factors associated with asbestos-related diseases and to investigate the incidence of new clinical manifestations in patients already diagnosed with some form of ARD. Methods/Design We have designed a matched case–control study with follow up of both cohorts from a population of a health district of the Barcelona province that has been exposed to asbestos for a period of 90 years. Discussion A better understanding of asbestos-related diseases should improve i) the clinical and epidemiological follow up of patients with this condition; ii) the design of new treatment strategies; iii) and the development of preventive activities. At the end of the study, the two cohorts created in this study (affected cases and healthy controls) will constitute the basis for future research. PMID:23915043

  9. A new age in AquaMedicine: unconventional approach in studying aquatic diseases.

    PubMed

    Gotesman, Michael; Menanteau-Ledouble, Simon; Saleh, Mona; Bergmann, Sven M; El-Matbouli, Mansour

    2018-06-08

    Marine and aquaculture industries are important sectors of the food production and global trade. Unfortunately, the fish food industry is challenged with a plethora of infectious pathogens. The freshwater and marine fish communities are rapidly incorporating novel and most up to date techniques for detection, characterization and treatment strategies. Rapid detection of infectious diseases is important in preventing large disease outbreaks. One hundred forty-six articles including reviews papers were analyzed and their conclusions evaluated in the present paper. This allowed us to describe the most recent development research regarding the control of diseases in the aquatic environment as well as promising avenues that may result in beneficial developments. For the characterization of diseases, traditional sequencing and histological based methods have been augmented with transcriptional and proteomic studies. Recent studies have demonstrated that transcriptional based approaches using qPCR are often synergistic to expression based studies that rely on proteomic-based techniques to better understand pathogen-host interactions. Preventative therapies that rely on prophylactics such as vaccination with protein antigens or attenuated viruses are not always feasible and therefore, the development of therapies based on small nucleotide based medicine is on the horizon. Of those, RNAi or CRISPR/Cas- based therapies show great promise in combating various types of diseases caused by viral and parasitic agents that effect aquatic and fish medicine. In our modern times, when the marine industry has become so vital for feed and economic stability, even the most extreme alternative treatment strategies such as the use of small molecules or even the use of disease to control invasive species populations should be considered.

  10. Seroprevalence of five neglected parasitic diseases among immigrants accessing five infectious and tropical diseases units in Italy: a cross-sectional study.

    PubMed

    Martelli, G; Di Girolamo, C; Zammarchi, L; Angheben, A; Morandi, M; Tais, S; Degani, M; El Hamad, I; Caligaris, S; Ciannameo, A; Grilli, E; Urbinati, L; Monteiro, G B; Scarcella, C; Petrosillo, N; Digaetano, M; Rabbi, L; Bazzanini, N; Cacciatore, F; Marta, B L; Moro, M L; Bartoloni, A; Viale, P; Verucchi, G

    2017-05-01

    This multicentre cross-sectional study aims to estimate the prevalence of five neglected tropical diseases (Chagas disease, filariasis, schistosomiasis, strongyloidiasis and toxocariasis) among immigrants accessing health care facilities in five Italian cities (Bologna, Brescia, Florence, Rome, Verona). Individuals underwent a different set of serological tests, according to country of origin and presence of eosinophilia. Seropositive patients were treated and further followed up. A total of 930 adult immigrants were enrolled: 477 men (51.3%), 445 women (47.9%), eight transgender (0.8%); median age was 37.81 years (range 18-80 years). Most of them had come from the African continent (405/930, 43.5%), the rest from East Europe, South America and Asia, and 9.6% (89/930) were diagnosed with at least one of the infections under study. Seroprevalence of each specific infection varied from 3.9% (7/180) for Chagas disease to 9.7% (11/113) for toxocariasis. Seropositive people were more likely to be 35-40 years old and male, and to come from South East Asia, sub-Saharan Africa or South America. The results of our study confirm that neglected tropical diseases represent a substantial health problem among immigrants and highlight the need to address this emerging public health issue. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  11. Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

    PubMed

    Narita, Aya; Shirai, Kentarou; Itamura, Shinji; Matsuda, Atsue; Ishihara, Akiko; Matsushita, Kumi; Fukuda, Chisako; Kubota, Norika; Takayama, Rumiko; Shigematsu, Hideo; Hayashi, Anri; Kumada, Tomohiro; Yuge, Kotaro; Watanabe, Yoriko; Kosugi, Saori; Nishida, Hiroshi; Kimura, Yukiko; Endo, Yusuke; Higaki, Katsumi; Nanba, Eiji; Nishimura, Yoko; Tamasaki, Akiko; Togawa, Masami; Saito, Yoshiaki; Maegaki, Yoshihiro; Ohno, Kousaku; Suzuki, Yoshiyuki

    2016-03-01

    Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease. Specifically, ambroxol, a commonly used expectorant, has been proposed as a candidate pharmacological chaperone. The purpose of this study was to evaluate the safety, tolerability, and neurological efficacy of ambroxol in patients with neuronopathic GD. This open-label pilot study included five patients who received high-dose oral ambroxol in combination with enzyme replacement therapy. Safety was assessed by adverse event query, physical examination, electrocardiography, laboratory studies, and drug concentration. Biochemical efficacy was assessed through evidence of glucocerebrosidase activity in the lymphocytes and glucosylsphingosine levels in the cerebrospinal fluid. Neurological efficacy was evaluated using the Unified Myoclonus Rating Scale, Gross Motor Function Measure, Functional Independence Measure, seizure frequency, pupillary light reflex, horizontal saccadic latency, and electrophysiologic studies. High-dose oral ambroxol had good safety and tolerability, significantly increased lymphocyte glucocerebrosidase activity, permeated the blood-brain barrier, and decreased glucosylsphingosine levels in the cerebrospinal fluid. Myoclonus, seizures, and pupillary light reflex dysfunction markedly improved in all patients. Relief from myoclonus led to impressive recovery of gross motor function in two patients, allowing them to walk again. Pharmacological chaperone therapy with high-dose oral ambroxol shows promise in treating neuronopathic GD, necessitating further clinical trials.

  12. Alive and Well? Exploring Disease by Studying Lifespan

    PubMed Central

    Brett, Jamie O.; Rando, Thomas A.

    2014-01-01

    A common concept in aging research is that chronological age is the most important risk factor for the development of diverse diseases, including degenerative diseases and cancers. The mechanistic link between the aging process and disease pathogenesis, however, is still enigmatic. Nevertheless, measurement of lifespan, as a surrogate for biological aging, remains among the most frequently used assays in aging research. In this review, we examine the connection between “normal aging” and age-related disease from the point of view that they form a continuum of aging phenotypes. This notion of common mechanisms gives rise to the converse postulate that diseases may be risk factors for accelerated aging. We explore the advantages and caveats associated with using lifespan as a metric to understand cell and tissue aging, focusing on the elucidation of molecular mechanisms and potential therapies for age-related diseases. PMID:25005743

  13. Preparation of organotypic brain slice cultures for the study of Alzheimer’s disease

    PubMed Central

    Croft, Cara L.; Noble, Wendy

    2018-01-01

    Alzheimer's disease, the most common cause of dementia, is a progressive neurodegenerative disorder characterised by amyloid-beta deposits in extracellular plaques, intracellular neurofibrillary tangles of aggregated tau, synaptic dysfunction and neuronal death. There are no cures for AD and current medications only alleviate some disease symptoms. Transgenic rodent models to study Alzheimer’s mimic features of human disease such as age-dependent accumulation of abnormal beta-amyloid and tau, synaptic dysfunction, cognitive deficits and neurodegeneration. These models have proven vital for improving our understanding of the molecular mechanisms underlying AD and for identifying promising therapeutic approaches. However, modelling neurodegenerative disease in animals commonly involves aging animals until they develop harmful phenotypes, often coupled with invasive procedures. In vivo studies are also resource, labour, time and cost intensive. We have developed a novel organotypic brain slice culture model to study Alzheimer’ disease which brings the potential of substantially reducing the number of rodents used in dementia research from an estimated 20,000 per year. We obtain 36 brain slices from each mouse pup, considerably reducing the numbers of animals required to investigate multiple stages of disease. This tractable model also allows the opportunity to modulate multiple pathways in tissues from a single animal. We believe that this model will most benefit dementia researchers in the academic and drug discovery sectors. We validated the slice culture model against aged mice, showing that the molecular phenotype closely mimics that displayed in vivo, albeit in an accelerated timescale. We showed beneficial outcomes following treatment of slices with agents previously shown to have therapeutic effects in vivo, and we also identified new mechanisms of action of other compounds. Thus, organotypic brain slice cultures from transgenic mouse models expressing

  14. A guide to using functional magnetic resonance imaging to study Alzheimer's disease in animal models.

    PubMed

    Asaad, Mazen; Lee, Jin Hyung

    2018-05-18

    Alzheimer's disease is a leading healthcare challenge facing our society today. Functional magnetic resonance imaging (fMRI) of the brain has played an important role in our efforts to understand how Alzheimer's disease alters brain function. Using fMRI in animal models of Alzheimer's disease has the potential to provide us with a more comprehensive understanding of the observations made in human clinical fMRI studies. However, using fMRI in animal models of Alzheimer's disease presents some unique challenges. Here, we highlight some of these challenges and discuss potential solutions for researchers interested in performing fMRI in animal models. First, we briefly summarize our current understanding of Alzheimer's disease from a mechanistic standpoint. We then overview the wide array of animal models available for studying this disease and how to choose the most appropriate model to study, depending on which aspects of the condition researchers seek to investigate. Finally, we discuss the contributions of fMRI to our understanding of Alzheimer's disease and the issues to consider when designing fMRI studies for animal models, such as differences in brain activity based on anesthetic choice and ways to interrogate more specific questions in rodents beyond those that can be addressed in humans. The goal of this article is to provide information on the utility of fMRI, and approaches to consider when using fMRI, for studies of Alzheimer's disease in animal models. © 2018. Published by The Company of Biologists Ltd.

  15. A guide to using functional magnetic resonance imaging to study Alzheimer's disease in animal models

    PubMed Central

    Asaad, Mazen

    2018-01-01

    ABSTRACT Alzheimer's disease is a leading healthcare challenge facing our society today. Functional magnetic resonance imaging (fMRI) of the brain has played an important role in our efforts to understand how Alzheimer's disease alters brain function. Using fMRI in animal models of Alzheimer's disease has the potential to provide us with a more comprehensive understanding of the observations made in human clinical fMRI studies. However, using fMRI in animal models of Alzheimer's disease presents some unique challenges. Here, we highlight some of these challenges and discuss potential solutions for researchers interested in performing fMRI in animal models. First, we briefly summarize our current understanding of Alzheimer's disease from a mechanistic standpoint. We then overview the wide array of animal models available for studying this disease and how to choose the most appropriate model to study, depending on which aspects of the condition researchers seek to investigate. Finally, we discuss the contributions of fMRI to our understanding of Alzheimer's disease and the issues to consider when designing fMRI studies for animal models, such as differences in brain activity based on anesthetic choice and ways to interrogate more specific questions in rodents beyond those that can be addressed in humans. The goal of this article is to provide information on the utility of fMRI, and approaches to consider when using fMRI, for studies of Alzheimer's disease in animal models. PMID:29784664

  16. [The Study of Psychological Characteristics of Children and Adolescents with Digestive Diseases].

    PubMed

    Sviridova, T V; Lazurenko, S B; Venger, A L; Komarova, E V; Potapov, A S; Buslaeva, A S

    2015-01-01

    The present study was aimed at the psychological characteristics of children with different chronic diseases of the digestive system and the identification of key factors influencing the formation of their personality. The continuous prospective study of psychological peculiarities of 125 patients (7-17 y.o.) with diseases of the digestive system who have been monitored at Scientific Centre of Children's Health (Moscow) was performed. As research methods were used: analysis of medical and pedagogical documentation, participant observation, educational experiment, interview, questionnaires and projective methods. The study involved 125 patients aged 7-17 years (12.4 averagely) with diseases of the digestive system including teens--68 (54%), primary school pupil--57 (46%). The number of boys significantly prevailed over the number of girls (2:1). The study confirmed the existence of a close relationship and mutual influence of three factors: the physical condition, social situation of development, and individual psychological characteristics of children. According to the psychological characteristics the children can be combined in three groups: Group I (47 of 125 people; 37.6%) - children with bad psychological status. This is most typicalfor children with active form of chronic diseases requiring intensive medical assistance (37 of 47people; 78.7%). Group II (59 of 125 people; 47.2%)--children with instable psychological condition, with risk of neurotization. This group mainly comprises patients with chronic diseases at the stage of unstable clinical remission with preserved or compensated functions of organism bodies and systems or with incomplete compensation of functions requiring long term supportive treatment (45 of 59 people; 76.3%). Group III--patients with rather stable psychological condition (19 of 125 people; 15.2%). It comprises patients with rather stable psychological condition, anyway, with expressed psychological vulnerability in stress situation

  17. Spatial and Temporal Variation of Japanese encephalitis Disease and Detection of Disease Hotspots: a Case Study of Gorakhpur District, Uttar Pradesh, India

    NASA Astrophysics Data System (ADS)

    Verma, S.; Gupta, R. D.

    2014-11-01

    In recent times, Japanese Encephalitis (JE) has emerged as a serious public health problem. In India, JE outbreaks were recently reported in Uttar Pradesh, Gorakhpur. The present study presents an approach to use GIS for analyzing the reported cases of JE in the Gorakhpur district based on spatial analysis to bring out the spatial and temporal dynamics of the JE epidemic. The study investigates spatiotemporal pattern of the occurrence of disease and detection of the JE hotspot. Spatial patterns of the JE disease can provide an understanding of geographical changes. Geospatial distribution of the JE disease outbreak is being investigated since 2005 in this study. The JE incidence data for the years 2005 to 2010 is used. The data is then geo-coded at block level. Spatial analysis is used to evaluate autocorrelation in JE distribution and to test the cases that are clustered or dispersed in space. The Inverse Distance Weighting interpolation technique is used to predict the pattern of JE incidence distribution prevalent across the study area. Moran's I Index (Moran's I) statistics is used to evaluate autocorrelation in spatial distribution. The Getis-Ord Gi*(d) is used to identify the disease areas. The results represent spatial disease patterns from 2005 to 2010, depicting spatially clustered patterns with significant differences between the blocks. It is observed that the blocks on the built up areas reported higher incidences.

  18. Fungal necrotizing fasciitis, an emerging infectious disease caused by Apophysomyces (Mucorales).

    PubMed

    Chander, Jagdish; Stchigel, Alberto Miguel; Alastruey-Izquierdo, Ana; Jayant, Mayank; Bala, Kiran; Rani, Hena; Handa, Uma; Punia, Rajpal Singh; Dalal, Usha; Attri, Ashok Kumar; Monzon, Araceli; Cano-Lira, José Francisco; Guarro, Josep

    2015-01-01

    The mucoralean fungi are emerging causative agents of primary cutaneous infections presenting in the form of necrotizing fasciitis. The aim of this study was to investigate a series of suspected necrotizing fasciitis cases by Apophysomyces species over one-year period in a northern Indian hospital. The clinical details of those patients suspected to suffer from fungal necrotizing fasciitis were recorded. Skin biopsies from local wounds were microscopically examined and fungal culturing was carried out on standard media. The histopathology was evaluated using conventional methods and special stains. Apophysomyces isolates were identified by their morphology and by molecular sequencing of the internal transcribed spacer (ITS) region of the ribosomal genes. Antifungal susceptibility testing was carried out following EUCAST guidelines and treatment progress was monitored. Seven patients were found to be suffering from necrotizing fasciitis caused by Apophysomyces spp. Six isolates were identified as Apophysomyces variabilis and one as Apophysomyces elegans. Five patients had previously received intramuscular injections in the affected area. Three patients recovered, two died and the other two left treatment against medical advice and are presumed to have died due to their terminal illnesses. Posaconazole and terbinafine were found to be the most active compounds against A. variabilis, while the isolate of A. elegans was resistant to all antifungals tested. Apophysomyces is confirmed as an aggressive fungus able to cause fatal infections. All clinicians, microbiologists and pathologists need to be aware of these emerging mycoses as well as of the risks involved in medical practices, which may provoke serious fungal infections such as those produced by Apophysomyces. Copyright © 2013 Revista Iberoamericana de Micología. Published by Elsevier Espana. All rights reserved.

  19. Hospital admissions for vitamin D related conditions and subsequent immune-mediated disease: record-linkage studies

    PubMed Central

    2013-01-01

    Background Previous studies have suggested that there may be an association between vitamin D deficiency and the risk of developing immune-mediated diseases. Methods We analyzed a database of linked statistical records of hospital admissions and death registrations for the whole of England (from 1999 to 2011). Rate ratios for immune-mediated disease were determined, comparing vitamin D deficient cohorts (individuals admitted for vitamin D deficiency or markers of vitamin D deficiency) with comparison cohorts. Results After hospital admission for either vitamin D deficiency, osteomalacia or rickets, there were significantly elevated rates of Addison’s disease, ankylosing spondylitis, autoimmune hemolytic anemia, chronic active hepatitis, celiac disease, Crohn’s disease, diabetes mellitus, pemphigoid, pernicious anemia, primary biliary cirrhosis, rheumatoid arthritis, Sjogren’s syndrome, systemic lupus erythematosus, thyrotoxicosis, and significantly reduced risks for asthma and myxoedema. Conclusions This study shows that patients with vitamin D deficiency may have an increased risk of developing some immune-mediated diseases, although we cannot rule out reverse causality or confounding. Further study of these associations is warranted and these data may aid further public health studies. PMID:23885887

  20. Organ damage in sickle cell disease study (ORDISS): protocol for a longitudinal cohort study based in Ghana.

    PubMed

    Anie, Kofi A; Paintsil, Vivian; Owusu-Dabo, Ellis; Ansong, Daniel; Osei-Akoto, Alex; Ohene-Frempong, Kwaku; Amissah, Kofi Aikins; Addofoh, Nicholas; Ackah, Ezekiel Bonwin; Owusu-Ansah, Amma Twumwa; Ofori-Acquah, Solomon Fiifi

    2017-08-28

    Sickle cell disease is highly prevalent in Africa with a significant public health burden. Nonetheless, morbidity and mortality in sickle cell disease that result from the progression of organ damage is not well understood. The Organ Damage in Sickle Cell Disease Study (ORDISS) is designed as a longitudinal cohort study to provide critical insight into cellular and molecular pathogenesis of chronic organ damage for the development of future innovative treatment. ORDISS aims to recruit children aged 0-15 years who attend the Kumasi Centre for Sickle Cell Disease based at the Komfo Anokye Teaching Hospital in Kumasi, Ghana. Consent is obtained to collect blood and urine samples from the children during specified clinic visits and hospitalisations for acute events, to identify candidate and genetic markers of specific organ dysfunction and end-organ damage, over a 3 year period. In addition, data concerning clinical history and complications associated with sickle cell disease are collected. Samples are stored in biorepositories and analysed at the Kumasi Centre for Collaborative Research in Tropical Medicine, Ghana and the Centre for Translational and International Haematology, University of Pittsburgh, USA. Appropriate statistical analyses will be performed on the data acquired. Research ethics approval was obtained at all participating sites. Results of the study will be submitted for publication in peer-reviewed journals, and the key findings presented at national and international conferences. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  1. Skeletal scintigraphy and quantitative tracer studies in metabolic bone disease

    NASA Astrophysics Data System (ADS)

    Fogelman, Ignac

    Bone scan imaging with the current bone seeking radiopharmaceuticals, the technetium-99m labelled diphosphonates, has dramatically improved our ability to evaluate skeletal pathology. In this thesis, chapter 1 presents a review of the history of bone scanning, summarises present concepts as to the mechanism of uptake of bone seeking agents and briefly illustrates the role of bone scanning in clinical practice. In chapter 2 the applications of bone scan imaging and quantitative tracer techniques derived from the bone scan in the detection of metabolic bone disease are discussed. Since skeletal uptake of Tc-99m diphosphonate depends upon skeletal metabolism one might expect that the bone scan would be of considerable value in the assessment of metabolic bone disease. However in these disorders the whole skeleton is often diffusely involved by the metabolic process and simple visual inspection of the scan image may not reveal the uniformly increased uptake of tracer. Certain patterns of bone scan abnormality have, however, been reported in patients with primary hyperparathyroidism and renal osteo-dystrophy; the present studies extend these observations and introduce the concept of "metabolic features" which are often recognisable in conditions with generalised increased bone turnover. As an aid to systematic recognition of these features on a given bone scan image a semi-quantitative scoring system, the metabolic index, was introduced. The metabolic index allowed differentiation between various groups of patients with metabolic disorders and a control population. In addition, in a bone scan study of patients with acromegaly, it was found that the metabolic index correlated well with disease activity as measured by serum growth hormone levels. The metabolic index was, however, found to be a relatively insensitive means of identifying disease in individual patients. Patients with increased bone turnover will have an absolute increase in skeletal uptake of tracer. As a

  2. Burden of Gastrointestinal and Liver Diseases in Iran: Estimates Based on the Global Burden of Disease, Injuries, and Risk Factors Study, 2010.

    PubMed

    Malekzadeh, Fatemeh; Sepanlou, Sadaf Ghajarieh; Poustchi, Hossein; Naghavi, Mohsen; Forouzanfar, Mohammad Hossein; Shahraz, Saeid; Moradi-Lakeh, Maziar; Malekzadeh, Reza

    2015-07-01

    BACKGROUND Gastrointestinal and liver diseases (GILD) constitute a noteworthy portion of causes of death and disability in Iran. However, data on their prevalence and burden is sparse in Iran. The Global Burden of Disease (GBD) study in 2010 has provided invaluable comprehensive data on the burden of GILD in Iran. METHODS Estimations of death, years of life lost due to premature death (YLL), years of life lost due to disability (YLD), disability-adjusted life years (DALY), life expectancy, and healthy life expectancy have been reported for 291 diseases, 67 risk factors, 1160 sequelae, for both sexes and 19 age groups, form 1990 to 2010 for 187 countries. In the current paper, 5 major categories of gastrointestinal (GI) and liver diseases have been investigated as follows: GI infectious diseases, GI and liver cancers, liver infections, chronic end stage liver disease, and other digestive diseases. RESULTS Among women, 7.6% of all deaths and 3.9% of all DALYs were due to digestive and liver diseases in 2010. The respective figures in men were 7.8% of deaths and 4.6% of DALYs. The most important cause of death among children under 5 is diarrhea. Among adults between 15 to 49 years old, the main causes of death are GI and liver cancers and cirrhosis, while diarrhea still remains a major cause of DALY. Among adults 50 years and above, GI and liver cancers and cirrhosis are the main causes of both deaths and DALYs. Gastritis and duodenitis, diarrheal diseases, gall bladder and bile duct diseases, acute hepatitis A, peptic ulcer disease, appendicitis, and acute hepatitis A mainly cause disability rather than death. CONCLUSION GBD study provides invaluable source of data on burden of GILD in Iran. However, there exist limitations, namely overestimation of burden of liver cancer and underestimation of the burden of GI diseases that are usually diagnosed in outpatient settings. The collaboration of scientists across the world and specifically those from developing countries

  3. Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.

    PubMed Central

    1993-01-01

    An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data on linked DNA markers, from four major testing centres in different European Community countries (Belgium, Italy, Netherlands, and United Kingdom). Information was available on 603 applicants, with 213 final results given, of which 32% gave an increased risk. A series of specific issues and problems were documented systematically for all applicants, results being given on frequency of occurrence and illustrated by individual case histories. The principal issues could be grouped as problems of inappropriate referral, problems involving relatives, and problems relating to disclosure of results. At least one important problem was encountered in 46% of applicants, emphasising the importance of expert counselling, preparation, and support of applicants, and of close liaison between clinical, counselling, and laboratory staff. The extensive and detailed information available for Huntington's disease from this and other studies will be of considerable value in relation to genetic testing for other late onset genetic disorders and will be even more relevant to Huntington's disease now that specific mutation analysis is possible for this disorder. PMID:8133502

  4. Pharmacogenetic studies in Alzheimer disease.

    PubMed

    Zúñiga Santamaría, T; Yescas Gómez, P; Fricke Galindo, I; González González, M; Ortega Vázquez, A; López López, M

    2018-06-10

    Alzheimer disease (AD) is the most common cause of dementia and is considered one of the main causes of disability and dependence affecting quality of life in elderly people and their families. Current pharmacological treatment includes acetylcholinesterase inhibitors (donepezil, galantamine, rivastigmine) and memantine; however, only one-third of patients respond to treatment. Genetic factors have been shown to play a role in this inter-individual variability in drug response. We review pharmacogenetic reports of AD-modifying drugs, the pharmacogenetic biomarkers included, and the phenotypes evaluated. We also discuss relevant methodological considerations for the design of pharmacogenetic studies into AD. A total of 33 pharmacogenetic reports were found; the majority of these focused on the variability in response to and metabolism of donepezil. Most of the patients included were from Caucasian populations, although some studies also include Korean, Indian, and Brazilian patients. CYP2D6 and APOE are the most frequently studied biomarkers. The associations proposed are controversial. Potential pharmacogenetic biomarkers for AD have been identified; however, it is still necessary to conduct further research into other populations and to identify new biomarkers. This information could assist in predicting patient response to these drugs and contribute to better treatment decision-making in a context as complex as aging. Copyright © 2018 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Habitual coffee consumption and risk of type 2 diabetes, ischemic heart disease, depression and Alzheimer’s disease: a Mendelian randomization study

    PubMed Central

    Kwok, Man Ki; Leung, Gabriel M.; Schooling, C. Mary

    2016-01-01

    Observationally, coffee is inversely associated with type 2 diabetes mellitus (T2DM), depression and Alzheimer’s disease, but not ischemic heart disease (IHD). Coffee features as possibly protective in the 2015 Dietary Guidelines for Americans. Short-term trials suggest coffee has neutral effect on most glycemic traits, but raises lipids and adiponectin. To clarify we compared T2DM, depression, Alzheimer’s disease, and IHD and its risk factors by genetically predicted coffee consumption using two-sample Mendelian randomization applied to large extensively genotyped case-control and cross-sectional studies. Childhood cognition was used as a negative control outcome. Genetically predicted coffee consumption was not associated with T2DM (odds ratio (OR) 1.02, 95% confidence interval (CI) 0.76 to 1.36), depression (0.89, 95% CI 0.66 to 1.21), Alzheimer’s disease (1.17, 95% CI 0.96 to 1.43), IHD (0.96, 95% CI 0.80 to 1.14), lipids, glycemic traits, adiposity or adiponectin. Coffee was unrelated to childhood cognition. Consistent with observational studies, coffee was unrelated to IHD, and, as expected, childhood cognition. However, contrary to observational findings, coffee may not have beneficial effects on T2DM, depression or Alzheimer’s disease. These findings clarify the role of coffee with relevance to dietary guidelines and suggest interventions to prevent these complex chronic diseases should be sought elsewhere. PMID:27845333

  6. Alignment between Chronic Disease Policy and Practice: Case Study at a Primary Care Facility

    PubMed Central

    Draper, Claire A.; Draper, Catherine E.; Bresick, Graham F.

    2014-01-01

    Background Chronic disease is by far the leading cause of death worldwide and of increasing concern in low- and middle-income countries, including South Africa, where chronic diseases disproportionately affect the poor living in urban settings. The Provincial Government of the Western Cape (PGWC) has prioritized the management of chronic diseases and has developed a policy and framework (Adult Chronic Disease Management Policy 2009) to guide and improve the prevention and management of chronic diseases at a primary care level. The aim of this study is to assess the alignment of current primary care practices with the PGWC Adult Chronic Disease Management policy. Methods One comprehensive primary care facility in a Cape Town health district was used as a case study. Data was collected via semi-structured interviews (n = 10), focus groups (n = 8) and document review. Participants in this study included clinical staff involved in chronic disease management at the facility and at a provincial level. Data previously collected using the Integrated Audit Tool for Chronic Disease Management (part of the PGWC Adult Chronic Disease Management policy) formed the basis of the guide questions used in focus groups and interviews. Results The results of this research indicate a significant gap between policy and its implementation to improve and support chronic disease management at this primary care facility. A major factor seems to be poor policy knowledge by clinicians, which contributes to an individual rather than a team approach in the management of chronic disease patients. Poor interaction between facility- and community-based services also emerged. A number of factors were identified that seemed to contribute to poor policy implementation, the majority of which were staff related and ultimately resulted in a decrease in the quality of patient care. Conclusions Chronic disease policy implementation needs to be improved in order to support chronic disease

  7. Alignment between chronic disease policy and practice: case study at a primary care facility.

    PubMed

    Draper, Claire A; Draper, Catherine E; Bresick, Graham F

    2014-01-01

    Chronic disease is by far the leading cause of death worldwide and of increasing concern in low- and middle-income countries, including South Africa, where chronic diseases disproportionately affect the poor living in urban settings. The Provincial Government of the Western Cape (PGWC) has prioritized the management of chronic diseases and has developed a policy and framework (Adult Chronic Disease Management Policy 2009) to guide and improve the prevention and management of chronic diseases at a primary care level. The aim of this study is to assess the alignment of current primary care practices with the PGWC Adult Chronic Disease Management policy. One comprehensive primary care facility in a Cape Town health district was used as a case study. Data was collected via semi-structured interviews (n = 10), focus groups (n = 8) and document review. Participants in this study included clinical staff involved in chronic disease management at the facility and at a provincial level. Data previously collected using the Integrated Audit Tool for Chronic Disease Management (part of the PGWC Adult Chronic Disease Management policy) formed the basis of the guide questions used in focus groups and interviews. The results of this research indicate a significant gap between policy and its implementation to improve and support chronic disease management at this primary care facility. A major factor seems to be poor policy knowledge by clinicians, which contributes to an individual rather than a team approach in the management of chronic disease patients. Poor interaction between facility- and community-based services also emerged. A number of factors were identified that seemed to contribute to poor policy implementation, the majority of which were staff related and ultimately resulted in a decrease in the quality of patient care. Chronic disease policy implementation needs to be improved in order to support chronic disease management at this facility. It is possible that similar

  8. Intrapartum electrocardiogram alteration in fetuses with congenital heart disease: a case-control study.

    PubMed

    Gay, Estelle; Bornallet, Géraldine; Gaucherand, Pascal; Doret, Muriel

    2015-11-01

    To assess if the fetal electrocardiogram especially ST segment is modified by congenital heart diseases: modifications in frequencies of the different ST events and modifications in signal quality. A retrospective case-control study, comparing frequencies of the different ST events and the quality of the signal between fetuses with congenital heart diseases and fetuses without congenital heart disease. From 2000 to 2011, fifty-eight fetuses with congenital heart disease had their heart rate recording using a STAN device during labor. Control group was fetuses who were born just before a case and had a STAN as a second line for intrapartum surveillance. Cases and controls were matched on parity, gestational age at birth, presence of growth restriction and umbilical artery pH. Frequencies of the different ST event and quality of the signal were first analyzed for the global labor recording, and then separately for the first and the second phase of labor. No statistically significant difference in ST event frequencies between fetuses with congenital heart disease and the control group was found. Regarding the quality of the signal, 11.49% (±18.82) of recording time is a signal loss for fetus with congenital heart disease whereas only 5.18% (±10.67) for the control group (p=0.028). This is the first study investigating for intrapartum electrocardiogram modification in fetus with congenital heart disease. Congenital heart diseases do not modify frequencies of ST events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  9. A comparative study of European rare disease and orphan drug markets.

    PubMed

    Denis, Alain; Mergaert, Lut; Fostier, Christel; Cleemput, Irina; Simoens, Steven

    2010-10-01

    This article aims to compare regulatory aspects of rare disease and orphan drug markets in Belgium, France, Italy, the Netherlands, Sweden and the United Kingdom. Information was derived from the international literature, analysis of legal texts, and a survey completed by national experts. These countries adopted varying approaches towards regulating rare disease and orphan drug markets and, hence, the availability, pricing and reimbursement of orphan drugs vary between countries. Strategies to keep down prices include public procurement in Sweden, profit controls in the United Kingdom, and price comparisons with other countries. To gain reimbursement, the cost-effectiveness and/or budget impact of orphan drugs is considered in some countries. Other societal considerations, such as whether the drug treats a life-threatening disease, are sometimes taken into account. Extensive government intervention exists in rare disease and orphan drug markets in the countries studied. Our recommendations are to define priorities for research on rare diseases and orphan drugs at the European level, to set up disease and patient registries with a view to investigating the long-term effectiveness and cost-effectiveness of orphan drugs, to assess the profitability of orphan drugs, and to take into account societal considerations when evaluating orphan drugs. Copyright (c) 2010 Elsevier Ireland Ltd. All rights reserved.

  10. Political Ideology, Confidence in Science, and Participation in Alzheimer Disease Research Studies.

    PubMed

    Gabel, Matthew; Gooblar, Jonathan; Roe, Catherine M; Selsor, Natalie J; Morris, John C

    2018-01-18

    Americans' confidence in science varies based on their political ideology. This ideological divide has potentially important effects on citizens' engagement with and participation in clinical studies of Alzheimer disease (AD). A probability sample of 1583 Americans was surveyed about their willingness to participate in longitudinal AD research and about their political attitudes. These survey results were compared with a survey of 382 participants in a longitudinal AD study at the Knight Alzheimer Disease Research Center. Among Americans, more conservative ideology decreases willingness to participate in a hypothetical longitudinal cohort study of AD both directly and through its negative effect on confidence in science. The Knight Alzheimer Disease Research Center study participants expressed more liberal ideology and greater confidence in science than Americans in general. Of the survey respondents opposed to participation, over a quarter changed to neutral or positive if the study returned their research results to them. Clinical studies of AD are likely biased toward participants who are more liberal and have higher confidence in science than the general population. This recruitment bias may be reduced by lowering the trust demanded of participants through measures such as returning research results to participants.

  11. A 12 year prospective study of circulatory disease among Danish shift workers.

    PubMed

    Tüchsen, F; Hannerz, H; Burr, H

    2006-07-01

    Previous studies of the risk of heart disease after shift work reached different estimates and review authors disagree about the validity of some of the studies. A cross sectional study showed that shift workers had a higher prevalence of nearly every unfavourable work environment factor investigated. Conflicts at work and low decision latitude were more frequent among shift workers, and all-day walking or standing work and part-time jobs were more often found among female shift workers. To estimate the risk of circulatory disease in a prospective follow up of a representative sample of gainfully employed Danes, considering known or suspected confounding factors. A cohort of 5517 people who were gainfully employed in 1990 were followed up for all hospital treatments due to circulatory diseases (390-458, ICD-8; I00-I99, ICD-10) from 1991 to 2002 inclusive. A log linear Poisson regression model was applied to control confounding factors and calculate the relative risk for 927 men and women working nights, evenings, or other non-day shifts compared to 4579 day workers. Non-day workers compared to day workers had a relative risk (RR) for all circulatory diseases of 1.31 (95% CI 1.06-1.63). Without control for BMI and smoking, the RR estimate was 1.33 (95% CI 1.07-1.65). For a subgroup of workers with at least three years' seniority, the RR was 1.40 (95% CI 1.09-1.81). The population based aetiological fraction of shift work was estimated to 5%. This study adds to a growing body of evidence suggesting that shift work carries an excess risk of circulatory diseases.

  12. Toxoplasma gondii exposure and Parkinson's disease: a case-control study.

    PubMed

    Alvarado-Esquivel, Cosme; Méndez-Hernández, Edna Madai; Salas-Pacheco, José Manuel; Ruano-Calderón, Luis Ángel; Hernández-Tinoco, Jesús; Arias-Carrión, Oscar; Sánchez-Anguiano, Luis Francisco; Castellanos-Juárez, Francisco Xavier; Sandoval-Carrillo, Ada Agustina; Liesenfeld, Oliver; Ramos-Nevárez, Agar

    2017-02-13

    To determine the association between Toxoplasma gondii infection and Parkinson's disease and to investigate whether T. gondii seropositivity is associated with the general characteristics of patients with Parkinson's disease. Case-control study. Cases and controls were enrolled in Durango City, Mexico. 65 patients with Parkinson's disease and 195 age- and gender-matched control subjects without Parkinson's disease. Serum samples of participants were analysed for anti- T. gondii IgG and IgM antibodies by commercially available enzyme-linked immunoassays. Prevalence of T. gondii DNA was determined in seropositive subjects using PCR. The association between clinical data and infection was examined by bivariate analysis. Anti- T. gondii IgG antibodies were found in 6/65 cases (9.2%) and in 21/195 controls (10.8%) (OR 0.84; 95% CI 0.32 to 2.18; p=0.81). The frequency of high (>150 IU/mL) antibody levels was similar among cases and controls (p=0.34). None of the anti- T. gondii IgG positive cases and four of the anti- T. gondii IgG positive controls had anti- T. gondii IgM antibodies (p=0.54). The prevalence of T. gondii DNA was comparable in seropositive cases and controls (16.7% and 25%, respectively; p=1.0). Seroprevalence of T. gondii infection was associated with a young age onset of disease (p=0.03), high Unified Parkinson Disease Rating Scale scores (p=0.04) and depression (p=0.02). Seropositivity to T. gondii infection was lower in patients treated with pramipexole than in patients without this treatment (p=0.01). However, none of the associations remained significant after Bonferroni correction. The results do not support an association between T. gondii infection and Parkinson's disease. However, T. gondii infection might have an influence on certain symptoms of Parkinson's disease. Further research to elucidate the role of T. gondii exposure on Parkinson's disease is warranted. Published by the BMJ Publishing Group Limited. For permission to use (where not

  13. Mortality from respiratory diseases associated with opium use: a population-based cohort study.

    PubMed

    Rahmati, Atieh; Shakeri, Ramin; Khademi, Hooman; Poutschi, Hossein; Pourshams, Akram; Etemadi, Arash; Khoshnia, Masoud; Sohrabpour, Amir Ali; Aliasgari, Ali; Jafari, Elham; Islami, Farhad; Semnani, Shahryar; Gharravi, Abdolsamad; Abnet, Christian C; Pharoah, Paul D P; Brennan, Paul; Boffetta, Paolo; Dawsey, Sanford M; Malekzadeh, Reza; Kamangar, Farin

    2017-11-01

    Recent studies have suggested that opium use may increase mortality from cancer and cardiovascular diseases. However, no comprehensive study of opium use and mortality from respiratory diseases has been published. We aimed to study the association between opium use and mortality from respiratory disease using prospectively collected data. We used data from the Golestan Cohort Study, a prospective cohort study in northeastern Iran, with detailed, validated data on opium use and several other exposures. A total of 50 045 adults were enrolled from 2004 to 2008, and followed annually until June 2015, with a follow-up success rate of 99%. We used Cox proportional hazard regression models to evaluate the association between opium use and outcomes of interest. During the follow-up period, 331 deaths from respiratory disease were reported (85 due to respiratory malignancies and 246 due to non-malignant aetiologies). Opium use was associated with an increased risk of death from any respiratory disease (adjusted HR 95% CI 3.13 (2.42 to 4.04)). The association was dose-dependent with a HR of 3.84 (2.61 to 5.67) for the highest quintile of cumulative opium use versus never use (P trend <0.001). The HRs (95% CI) for the associations between opium use and malignant and non-malignant causes of respiratory mortality were 1.96 (1.18 to 3.25) and 3.71 (2.76 to 4.96), respectively. Long-term opium use is associated with increased mortality from both malignant and non-malignant respiratory diseases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  14. Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease

    PubMed Central

    Lee, James C.; Biasci, Daniele; Roberts, Rebecca; Gearry, Richard B.; Mansfield, John C.; Ahmad, Tariq; Prescott, Natalie J.; Satsangi, Jack; Wilson, David C.; Jostins, Luke; Anderson, Carl A.; Traherne, James A.; Lyons, Paul A.; Parkes, Miles; Smith, Kenneth G.C.

    2017-01-01

    For most immune-mediated diseases, the main determinant of patient well-being is not the diagnosis itself, but the course the disease takes over time (prognosis)1–3. This varies substantially between patients for reasons that are poorly understood. Familial studies support a genetic contribution to prognosis4–6, but little evidence has been found for a proposed association between prognosis and the burden of susceptibility variants7–13. To better characterise how genetic variation influences disease prognosis, we performed a within-cases genome-wide association study in two cohorts of patients with Crohn's disease. We identified four genome-wide significant loci, none of which showed any association with disease susceptibility. Conversely, the aggregated effect of all 170 disease susceptibility loci was not associated with prognosis. Together, these data suggest that the genetic contribution to prognosis in Crohn’s disease is largely independent from the contribution to disease susceptibility, and point to a biology of prognosis that could provide new therapeutic opportunities. PMID:28067912

  15. Sample size determination for disease prevalence studies with partially validated data.

    PubMed

    Qiu, Shi-Fang; Poon, Wai-Yin; Tang, Man-Lai

    2016-02-01

    Disease prevalence is an important topic in medical research, and its study is based on data that are obtained by classifying subjects according to whether a disease has been contracted. Classification can be conducted with high-cost gold standard tests or low-cost screening tests, but the latter are subject to the misclassification of subjects. As a compromise between the two, many research studies use partially validated datasets in which all data points are classified by fallible tests, and some of the data points are validated in the sense that they are also classified by the completely accurate gold-standard test. In this article, we investigate the determination of sample sizes for disease prevalence studies with partially validated data. We use two approaches. The first is to find sample sizes that can achieve a pre-specified power of a statistical test at a chosen significance level, and the second is to find sample sizes that can control the width of a confidence interval with a pre-specified confidence level. Empirical studies have been conducted to demonstrate the performance of various testing procedures with the proposed sample sizes. The applicability of the proposed methods are illustrated by a real-data example. © The Author(s) 2012.

  16. Serum Proteome Profiles in Stricturing Crohn’s Disease: A pilot study.

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Townsend, Peter; Zhang, Qibin; Shapiro, Jason

    Background: Crohn’s disease (CD) is a form of inflammatory bowel disease (IBD) with different described behaviors, including stricture. At present, there are no laboratory studies that can differentiate stricturing CD from other phenotypes of IBD. We performed a pilot study to examine differences in the proteome among patients with stricturing Crohn’s disease, non-stricturing Crohn’s disease, and ulcerative colitis (UC). Methods: Serum samples were selected from the Ocean State Crohn’s and Colitis Area Registry (OSCCAR), an established cohort of patients with IBD. Crohn’s disease patients with surgically-resected stricture were matched with similar patients with Crohn’s disease without known stricture, and withmore » UC. Serum samples from each patient were digested and analyzed using liquid chromatography-mass spectrometry to characterize the proteome. Statistical analyses were performed to identify peptides and proteins that can differentiate CD with stricture. Results: Samples from 9 patients in each group (27 total patients) were analyzed. Baseline demographic characteristics were similar among the three groups. We quantified 7668 peptides and 897 proteins for analysis. ROC analysis identified a subset of peptides with an area under the curve greater than 0.9, indicating greater separation potential. Partial least squares discriminant analysis was able to distinguish among the three groups with up to 70% accuracy by peptides, and up to 80% accuracy by proteins. We identified the significantly different proteins and peptides, and determined their function based on previously published literature. Conclusions: The serum of patients with stricturing CD, non-stricturing CD, and UC are distinguishable via proteomic analysis. Some of the proteins that differentiate the stricturing phenotype have been implicated in complement activation, fibrinolytic pathways, and lymphocyte adhesion.« less

  17. Impulse control disorders in advanced Parkinson's disease with dyskinesia: The ALTHEA study.

    PubMed

    Biundo, Roberta; Weis, Luca; Abbruzzese, Giovanni; Calandra-Buonaura, Giovanna; Cortelli, Pietro; Jori, Maria Cristina; Lopiano, Leonardo; Marconi, Roberto; Matinella, Angela; Morgante, Francesca; Nicoletti, Alessandra; Tamburini, Tiziano; Tinazzi, Michele; Zappia, Mario; Vorovenci, Ruxandra Julia; Antonini, Angelo

    2017-11-01

    Impulse control disorders and dyskinesia are common and disabling complications of dopaminergic treatment in Parkinson's disease. They may coexist and are possibly related. The objectives of this study were to assess the frequency and severity of impulse control disorders in Parkinson's disease patients with dyskinesia. The ALTHEA study enrolled 251 Parkinson's disease patients with various degrees of dyskinesia severity from 11 movement disorders centers in Italy. Each patient underwent a comprehensive assessment including Unified Dyskinesia Rating Scale and the Questionnaire for Impulsive Compulsive Disorders in Parkinson Disease-Rating Scale. There was an overall 55% frequency of impulse control disorder and related behaviors (36% were clinically significant). The positive patients were younger at disease diagnosis and onset and had higher Unified Dyskinesia Rating Scale historical and total score (P = 0.001 and P = 0.02, respectively, vs negative). There was an increased frequency of clinically significant impulse control disorders in patients with severe dyskinesia (P = 0.013), a positive correlation between the questionnaire total score and dopamine agonist dose (P = 0.018), and a trend with levodopa dose. More than half of Parkinson's disease patients with dyskinesia have impulse control disorders and related behaviors, which are frequently clinically significant. Dopaminergic therapy total dose is associated with their severity. Clinicians should carefully assess patients with maladaptive behaviors and dyskinesia because they do not properly evaluate their motor and nonmotor status. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  18. Childhood Trauma and Adult Risk Factors and Disease in Hispanics/Latinos in the US: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) Sociocultural Ancillary Study.

    PubMed

    Llabre, Maria M; Schneiderman, Neil; Gallo, Linda C; Arguelles, William; Daviglus, Martha L; Gonzalez, Franklyn; Isasi, Carmen R; Perreira, Krista M; Penedo, Frank J

    Adverse childhood experiences (ACEs) are implicated in diseases of adulthood. We report the prevalence of ACEs in Hispanics/Latinos in the US and their association with major risk factors and diseases in adulthood. Data from the Sociocultural Ancillary Study of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) were used. The Sociocultural Ancillary Study of the Hispanic Community Health Study/Study of Latinos is an epidemiological study conducted in four urban communities in the US: Bronx, Chicago, Miami, and San Diego. The analytic sample comprised 5117 participants, ages 18 to 74 at baseline. Linear and logistic models, adjusted for sociodemographic factors, were used to examine associations of ACEs and risk factors (depressive symptoms, obesity, smoking, and alcohol use) and chronic disease (coronary heart disease, stroke, diabetes, asthma, chronic obstructive pulmonary disease, and cancer); the latter were also adjusted for risk factors. Most participants (77.2%) experienced at least one ACE, and 28.7% experienced four or more. Adverse childhood experiences were common among all ancestry groups, with variability among them. Prevalence of four or more ACEs was higher among women than men (31.2% and 25.8%, respectively). Adverse childhood experiences were associated with depressive symptoms, body mass index, smoking, alcohol use, cancer, coronary heart disease, and chronic obstructive pulmonary disease, but not asthma, diabetes, or stroke. Associations were not moderated by social support. Adverse childhood experiences are prevalent among US Hispanics/Latinos and are involved in disease in adulthood. The apparent higher prevalence of ACEs in US Hispanics/Latinos did not correspond with stronger associations with disease. Further studies are needed to identify factors that may moderate the associations of ACE with adult disease.

  19. A genetic study of Wilson’s disease in the United Kingdom

    PubMed Central

    Coffey, Alison J.; Durkie, Miranda; Hague, Stephen; McLay, Kirsten; Emmerson, Jennifer; Lo, Christine; Klaffke, Stefanie; Joyce, Christopher J.; Dhawan, Anil; Hadzic, Nedim; Mieli-Vergani, Giorgina; Kirk, Richard; Elizabeth Allen, K.; Nicholl, David; Wong, Siew; Griffiths, William; Smithson, Sarah; Giffin, Nicola; Taha, Ali; Connolly, Sally; Gillett, Godfrey T.; Tanner, Stuart; Bonham, Jim; Sharrack, Basil; Palotie, Aarno; Rattray, Magnus; Dalton, Ann

    2013-01-01

    Previous studies have failed to identify mutations in the Wilson’s disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with clinically and biochemically confirmed Wilson’s disease. A total of 116 different ATP7B mutations were detected, 32 of which are novel. The overall mutation detection frequency was 98%. The likelihood of mutations in genes other than ATP7B causing a Wilson’s disease phenotype is therefore very low. We report the first cases with Wilson’s disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mutations and three families with Wilson’s disease in two consecutive generations. We determined the genetic prevalence of Wilson’s disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects. The frequency of all single nucleotide variants with in silico evidence of pathogenicity (Class 1 variant) was 0.056 or 0.040 if only those single nucleotide variants that had previously been reported as mutations in patients with Wilson’s disease were included in the analysis (Class 2 variant). The frequency of heterozygote, putative or definite disease-associated ATP7B mutations was therefore considerably higher than the previously reported occurrence of 1:90 (or 0.011) for heterozygote ATP7B mutation carriers in the general population (P < 2.2 × 10-16 for Class 1 variants or P < 5 × 10-11 for Class 2 variants only). Subsequent exclusion of four Class 2 variants without additional in silico evidence of pathogenicity led to a further reduction of the mutation frequency to 0.024. Using this most conservative approach, the calculated frequency of individuals predicted to carry two mutant pathogenic ATP7B alleles is 1:7026 and

  20. Systems Pharmacology-Based Approach of Connecting Disease Genes in Genome-Wide Association Studies with Traditional Chinese Medicine.

    PubMed

    Kim, Jihye; Yoo, Minjae; Shin, Jimin; Kim, Hyunmin; Kang, Jaewoo; Tan, Aik Choon

    2018-01-01

    Traditional Chinese medicine (TCM) originated in ancient China has been practiced over thousands of years for treating various symptoms and diseases. However, the molecular mechanisms of TCM in treating these diseases remain unknown. In this study, we employ a systems pharmacology-based approach for connecting GWAS diseases with TCM for potential drug repurposing and repositioning. We studied 102 TCM components and their target genes by analyzing microarray gene expression experiments. We constructed disease-gene networks from 2558 GWAS studies. We applied a systems pharmacology approach to prioritize disease-target genes. Using this bioinformatics approach, we analyzed 14,713 GWAS disease-TCM-target gene pairs and identified 115 disease-gene pairs with q value < 0.2. We validated several of these GWAS disease-TCM-target gene pairs with literature evidence, demonstrating that this computational approach could reveal novel indications for TCM. We also develop TCM-Disease web application to facilitate the traditional Chinese medicine drug repurposing efforts. Systems pharmacology is a promising approach for connecting GWAS diseases with TCM for potential drug repurposing and repositioning. The computational approaches described in this study could be easily expandable to other disease-gene network analysis.

  1. Systems Pharmacology-Based Approach of Connecting Disease Genes in Genome-Wide Association Studies with Traditional Chinese Medicine

    PubMed Central

    Kim, Jihye; Yoo, Minjae; Shin, Jimin; Kim, Hyunmin; Kang, Jaewoo

    2018-01-01

    Traditional Chinese medicine (TCM) originated in ancient China has been practiced over thousands of years for treating various symptoms and diseases. However, the molecular mechanisms of TCM in treating these diseases remain unknown. In this study, we employ a systems pharmacology-based approach for connecting GWAS diseases with TCM for potential drug repurposing and repositioning. We studied 102 TCM components and their target genes by analyzing microarray gene expression experiments. We constructed disease-gene networks from 2558 GWAS studies. We applied a systems pharmacology approach to prioritize disease-target genes. Using this bioinformatics approach, we analyzed 14,713 GWAS disease-TCM-target gene pairs and identified 115 disease-gene pairs with q value < 0.2. We validated several of these GWAS disease-TCM-target gene pairs with literature evidence, demonstrating that this computational approach could reveal novel indications for TCM. We also develop TCM-Disease web application to facilitate the traditional Chinese medicine drug repurposing efforts. Systems pharmacology is a promising approach for connecting GWAS diseases with TCM for potential drug repurposing and repositioning. The computational approaches described in this study could be easily expandable to other disease-gene network analysis. PMID:29765977

  2. Prevalence and Morbidity of Undiagnosed Celiac Disease From a Community-based Study

    PubMed Central

    Choung, Rok Seon; Larson, Scott A.; Khaleghi, Shahryar; Rubio-Tapia, Alberto; Ovsyannikova, Inna G.; King, Katherine S.; Larson, Joseph J.; Lahr, Brian D.; Poland, Gregory A.; Camilleri, Michael J.; Murray, Joseph A.

    2016-01-01

    Background & Aims Little is known about the prevalence and burden of undiagnosed celiac disease in individuals younger than 50 years old. We determined the prevalence and morbidity of undiagnosed celiac disease in individuals younger than 50 years in a community. Methods We tested sera from 31,255 residents of Olmsted County, Minnesota (younger than 50 years old) without a prior diagnosis of celiac disease assay using an assay for immunoglobulin A (IgA) against tissue transglutaminase (tTG); in subjects with positive test results, celiac disease was confirmed using an assay for endomysial IgA. We performed a nested case–control study to compare the proportion of comorbidities between undiagnosed cases of celiac disease and age- and sex-matched seronegative controls (1:2). Medical records were abstracted to identify potential comorbidities. Results We identified 338 of 30,425 adults with positive results from both serologic tests. Based on this finding, we estimated the prevalence of celiac disease to be 1.1% (95% CI, 1.0%–1.2%); 8 of 830 children tested positive for IgA against tTG (1.0%, 95% CI, 0.4%–1.9%). No typical symptoms or classic consequences of diagnosed celiac disease (diarrhea, anemia, or fracture) were associated with undiagnosed celiac disease. Undiagnosed celiac disease was associated with increased rates of hypothyroidism (odds ratio, 2.2; P<.01) and lower than average level of cholesterol (P=.03) and ferritin (P=.01). During a median follow-up period of 6.3 years, the cumulative incidence of subsequent diagnosis with celiac disease at 5 years after testing was 10.8% in persons with undiagnosed celiac disease vs 0.1% in seronegative persons (P<.01). Celiac disease status was not associated with overall survival. Conclusions Based on serologic tests of a community population for celiac disease, we estimated the prevalence of undiagnosed celiac disease to be 1%. Undiagnosed celiac disease appeared to be clinically silent and remained undetected

  3. Oral contraceptives and the risk of gallbladder disease: a comparative safety study

    PubMed Central

    Etminan, Mahyar; Delaney, Joseph A.C.; Bressler, Brian; Brophy, James M.

    2011-01-01

    Background Recent concerns have been raised about the risk of gallbladder disease associated with the use of drospirenone, a fourth-generation progestin used in oral contraceptives. We conducted a study to determine the magnitude of this risk compared with other formulations of oral contraceptives. Methods We conducted a retrospective cohort study using the IMS LifeLink Health Plan Claims Database. We included women who were using an oral contraceptive containing ethinyl estradiol combined with a progestin during 1997–2009. To be eligible, women had to have been taking the oral contraceptive continuously for at least six months. We computed adjusted rate ratios (RRs) for gallbladder disease using a Cox proportional hazards model. In the primary analysis, gallbladder disease was defined as cholecystectomy; in a secondary analysis, it was defined as hospital admission secondary to gallbladder disease. Results We included 2 721 014 women in the cohort, 27 087 of whom underwent surgical or laparoscopic cholecystectomy during the follow-up period. Compared with levonorgestrel, an older second-generation progestin, a small, statistically significant increase in the risk of gallbladder disease was associated with desogestrel (adjusted RR 1.05, 95% confidence interval [CI] 1.01–1.09), drospirenone (adjusted RR 1.20, 95% CI 1.16–1.26) and norethindrone (adjusted RR 1.10, 95% CI 1.06–1.14). No statistically significant increase in risk was associated with the other formulations of oral contraceptive (ethynodiol diacetate, norgestrel and norgestimate). Interpretation In a large cohort of women using oral contraceptives, we found a small, statistically significant increase in the risk of gallbladder disease associated with desogestrel, drospirenone and norethindrone compared with levonorgestrel. However, the small effect sizes compounded with the possibility of residual biases in this observational study make it unlikely that these differences are clinically

  4. Epigenetic regulation in allergic diseases and related studies

    PubMed Central

    Kuo, Chang-Hung; Hsieh, Chong-Chao; Lee, Min-Sheng; Chang, Kai-Ting; Kuo, Hsuan-Fu

    2014-01-01

    Asthma, a chronic inflammatory disorder of the airway, has features of both heritability as well as environmental influences which can be introduced in utero exposures and modified through aging, and the features may attribute to epigenetic regulation. Epigenetic regulation explains the association between early prenatal maternal smoking and later asthma-related outcomes. Epigenetic marks (DNA methylation, modifications of histone tails or noncoding RNAs) work with other components of the cellular regulatory machinery to control the levels of expressed genes, and several allergy- and asthma-related genes have been found to be susceptible to epigenetic regulation, including genes important to T-effector pathways (IFN-γ, interleukin [IL] 4, IL-13, IL-17) and T-regulatory pathways (FoxP3). Therefore, the mechanism by which epigenetic regulation contributes to allergic diseases is a critical issue. In the past most published experimental work, with few exceptions, has only comprised small observational studies and models in cell systems and animals. However, very recently exciting and elegant experimental studies and novel translational research works were published with new and advanced technologies investigating epigenetic mark on a genomic scale and comprehensive approaches to data analysis. Interestingly, a potential link between exposure to environmental pollutants and the occurrence of allergic diseases is revealed recently, particular in developed and industrialized countries, and endocrine disrupting chemicals (EDCs) as environmental hormone may play a key role. This review addresses the important question of how EDCs (nonylphenol, 4 octylphenol, and phthalates) influences on asthma-related gene expression via epigenetic regulation in immune cells, and how anti-asthmatic agents prohibit expression of inflammatory genes via epigenetic modification. The discovery and validation of epigenetic biomarkers linking exposure to allergic diseases might lead to better

  5. Early Menopause Predicts Future Coronary Heart Disease and Stroke: The Multi-Ethnic Study of Atherosclerosis (MESA)

    PubMed Central

    Wellons, Melissa; Ouyang, Pamela; Schreiner, Pamela J; Herrington, David M; Vaidya, Dhananjay

    2012-01-01

    Objective Cardiovascular disease is the number one killer of women. Identifying women at risk of cardiovascular disease has tremendous public health importance. Early menopause is associated with increased cardiovascular disease events in some predominantly white populations, but not consistently. Our objective was to determine if a self-reported early menopause (menopause at an age <46) identifies women as at risk for future coronary heart disease or stroke. Methods The study population came from the Multi-Ethnic Study of Atherosclerosis, a longitudinal, ethnically diverse cohort study of US men and women aged 45 to 84 years enrolled in 2000–2002 and followed up until 2008. The association between a personal history of early menopause (either natural menopause or surgical removal of ovaries at an age <46) and future coronary heart disease and stroke was assessed in 2509 women (ages 45–84, 987 White, 331 Chinese, 641 Black, 550 Hispanic) from the Multi-Ethnic Study Atherosclerosis, who were free of cardiovascular disease at baseline. Results 693/2509 (28%) of women reported either surgical or natural early menopause. In survival curves, women with early menopause had worse coronary heart disease and stroke-free survival (log rank p=<0.008 and 0.0158). In models adjusted for age, race/ethnicity, Multi-Ethnic Study Atherosclerosis site and traditional cardiovascular disease risk factors, this risk for coronary heart disease and stroke remained (HR 2.08, 95% CI 1.17, 3.70 and 2.19, 95% CI 1.11, 4.32, respectively). Conclusions Early menopause is positively associated with coronary heart disease and stroke in a multiethnic cohort, independent of traditional cardiovascular disease risk factors. PMID:22692332

  6. [Chronic disease, mortality and disability in an elderly Spanish population: the FRADEA study].

    PubMed

    Alfonso Silguero, Sergio A; Martínez-Reig, Marta; Gómez Arnedo, Llanos; Juncos Martínez, Gema; Romero Rizos, Luis; Abizanda Soler, Pedro

    2014-01-01

    The objective of this study was to analyse the relationships between the major chronic diseases and multiple morbidity, with mortality, incident disability in basic activities of daily living, and loss of mobility in the elderly. A total of 943 participants were selected from the FRADEA Study, using available baseline data of chronic diseases, and at the follow-up visit of mortality, incident disability, and loss of mobility. The analysis was made of the unadjusted and adjusted association between the number of chronic diseases, the number of 14 pre-selected diseases, and the presence of two or more chronic diseases (multiple morbidity) with adverse health events recorded. Participants with a higher number of diseases (OR 1.11; 95% CI: 1.02-1.22), and 14 pre-selected diseases (OR 1.19; 95% CI: 1.03-1.38) had a higher adjusted mortality risk, but not a higher incident disease or mobility loss risk. Subjects with multiple morbidity had a higher non-significant mortality risk (HR 1.45; 95% CI: 0.87-2.43), than those without multiple morbidity. Disability-free mean time in participants with and without multiple morbidity was 846±34 and 731±17 days, respectively (Log-rank χ(2) 7.45. P=.006), and with our without mobility loss was 818±32 and 696±13 days, respectively (Log rank χ(2) 10.99. P=.001). Multiple morbidity was not associated with mortality, incident disability in ADL, or mobility loss in adults older than 70 years, although if mortality is taken into account, the number of chronic diseases is linear. Copyright © 2013 SEGG. Published by Elsevier Espana. All rights reserved.

  7. Aortic PWV in Chronic Kidney Disease: A CRIC Ancillary Study

    PubMed Central

    Townsend, Raymond R.; Wimmer, Neil J.; Chirinos, Julio A.; Parsa, Afshin; Weir, Matthew; Perumal, Kalyani; Lash, James P.; Chen, Jing; Steigerwalt, Susan P.; Flack, John; Go, Alan S.; Rafey, Mohammed; Rahman, Mahboob; Sheridan, Angela; Gadegbeku, Crystal A.; Robinson, Nancy A.; Joffe, Marshall

    2009-01-01

    Background Aortic PWV is a measure of arterial stiffness and has proved useful in predicting cardiovascular morbidity and mortality in several populations of patients, including the healthy elderly, hypertensives and those with end stage renal disease receiving hemodialysis. Little data exist characterizing aortic stiffness in patients with chronic kidney disease who are not receiving dialysis, and in particular the effect of reduced kidney function on aortic PWV. Methods We performed measurements of aortic PWV in a cross-sectional cohort of participants enrolled in the Chronic Renal Insufficiency Cohort (CRIC) study to determine factors which predict increased aortic PWV in chronic kidney disease. Results PWV measurements were obtained in 2564 participants. The tertiles of aortic PWV (adjusted for waist circumference) were < 7.7 m/sec, 7.7–10.2 m/sec and > 10.2 m/sec with an overall mean (± S.D.) value of 9.48 ± 3.03 m/sec [95% CI = 9.35–9.61 m/sec]. Multivariable regression identified significant independent positive associations of age, blood glucose concentrations, race, waist circumference, mean arterial blood pressure, gender, and presence of diabetes with aortic PWV and a significant negative association with the level of kidney function. Conclusions The large size of this unique cohort, and the targeted enrollment of chronic kidney disease participants provides an ideal situation to study the role of reduced kidney function as a determinant of arterial stiffness. Arterial stiffness may be a significant component of the enhanced cardiovascular risk associated with kidney failure. PMID:20019670

  8. Cardiovascular disease in children in Djibouti: a single-centre study.

    PubMed

    Massoure, Pierre-Laurent; Roche, Nicolas-Charles; Lamblin, Gatien; Dehan, Celine; Kaiser, Eric; Fourcade, Laurent

    2013-01-01

    Few data are available about pediatric cardiovascular disease (CVD) in the Horn of Africa. The objective of this study was to describe the spectrum of CVD in children in Djibouti. Clinical features and management of Djiboutian children between 1 month-old and 15 year-old with CVD were prospectively recorded over a two-year period in Bouffard Military Hospital in Djibouti (January 2009- December 2010). Clinical examination and echocardiography were performed on 156 patients: 32 of them (20%) had CVD. Three (10%) of them had Down's syndrome. The median age was 5 years (male 53%). Congenital heart disease was observed in 27 (84%) patients and dilated cardiomyopathy (DCM) in 5 (16%) patients including 2 patients with rheumatic valvular disease. Ventricular septal defect was frequent (28%). Other abnormalities were atrial septal defect (13%), Tetralogy of Fallot (9%), pulmonary stenosis (6%) and 3 other patients had multiple congenital anomalies condition. Surgical management was required in 22 (69%) patients and was performed on 15 (47%) cases. During follow up (mean 11.3 ± 6.8 months), 5 (16%) patients died. Absence of surgery was associated with significant mortality (p > 0.05) but age, sex and mean follow up were not. Pediatric CVD is at least as common in this Djiboutian community as in other African cohorts. The absence of surgery was a major mortality risk factor. DCM was frequent in this study. Much work remains to be done to discover the size and nature of genetic and environmental contributions to these various forms of heart diseases in the Horn of Africa.

  9. Striatal dopamine in Parkinson disease: A meta-analysis of imaging studies.

    PubMed

    Kaasinen, Valtteri; Vahlberg, Tero

    2017-12-01

    A meta-analysis of 142 positron emission tomography and single photon emission computed tomography studies that have investigated striatal presynaptic dopamine function in Parkinson disease (PD) was performed. Subregional estimates of striatal dopamine metabolism are presented. The aromatic L-amino-acid decarboxylase (AADC) defect appears to be consistently smaller than the dopamine transporter and vesicular monoamine transporter 2 defects, suggesting upregulation of AADC function in PD. The correlation between disease severity and dopamine loss appears linear, but the majority of longitudinal studies point to a negative exponential progression pattern of dopamine loss in PD. Ann Neurol 2017;82:873-882. © 2017 American Neurological Association.

  10. Study of gastro-oesophageal reflux disease in patients with mild-to-moderate chronic obstructive pulmonary disease in India.

    PubMed

    Kamble, Nitish L; Khan, Naushad A; Kumar, Naresh; Nayak, Hemanta K; Daga, Mradul K

    2013-04-01

    To study the incidence and pattern of gastro-oesophageal reflux disease (GORD) in patients with mild-to-moderate chronic obstructive pulmonary disease (COPD) using dual-probe 24-h oesophageal pH recording. This was a prospective study of 50 patients with mild-to-moderate stage COPD based on the Global Initiative for Chronic Obstructive Lung Disease (GOLD) guidelines. A detailed history of illness along with spirometry was done in all patients. In the study group, reflux symptoms were measured using a validated scoring system. All the patients underwent oesophageal manometry and dual-probe 24-h oesophageal pH recording. Symptoms of gastro-oesophageal reflux were present in 38 patients. Twenty-four-hour oesophageal pH monitoring revealed pathological reflux in 31 out of 38 symptomatic and 8 out of 12 asymptomatic patients. The overall rate of GORD was 78% in our study. Only distal GORD was observed in 11 (28.9%), and both distal and proximal GORD was observed in 20 (52.6%) out of the 38 symptomatic subjects. In the remaining 12 asymptomatic patients, eight had GORD. Distal GORD was present in six (50%) patients, and two (16.6%) had both distal and proximal GORD in this group. Isolated proximal GORD was not observed in any patient. There is an increased occurrence of GORD in patients with even mild-to-moderate COPD. © 2013 The Authors. Respirology © 2013 Asian Pacific Society of Respirology.

  11. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015), a global--clinical evaluations, serum biomarkers, genetic studies and neuroimaging--prospective, multicenter, non-interventional, long-term study on Parkinson's disease progression.

    PubMed

    Santos-García, Diego; Mir, Pablo; Cubo, Esther; Vela, Lydia; Rodríguez-Oroz, Mari Cruz; Martí, Maria José; Arbelo, José Matías; Infante, Jon; Kulisevsky, Jaime; Martínez-Martín, Pablo

    2016-02-25

    Parkinson's disease (PD) is a progressive neurodegenerative disorder causing motor and non-motor symptoms that can affect independence, social adjustment and the quality of life (QoL) of both patients and caregivers. Studies designed to find diagnostic and/or progression biomarkers of PD are needed. We describe here the study protocol of COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015), an integral PD project based on four aspects/concepts: 1) PD as a global disease (motor and non-motor symptoms); 2) QoL and caregiver issues; 3) Biomarkers; 4) Disease progression. Observational, descriptive, non-interventional, 5-year follow-up, national (Spain), multicenter (45 centers from 15 autonomous communities), evaluation study. Specific goals: (1) detailed study (clinical evaluations, serum biomarkers, genetic studies and neuroimaging) of a population of PD patients from different areas of Spain, (2) comparison with a control group and (3) follow-up for 5 years. COPPADIS-2015 has been specifically designed to assess 17 proposed objectives. approximately 800 non-dementia PD patients, 600 principal caregivers and 400 control subjects. Study evaluations: (1) baseline includes motor assessment (e.g., Unified Parkinson's Disease Rating Scale part III), non-motor symptoms (e.g., Non-Motor Symptoms Scale), cognition (e.g., Parkinson's Disease Cognitive Rating Scale), mood and neuropsychiatric symptoms (e.g., Neuropsychiatric Inventory), disability, QoL (e.g., 39-item Parkinson's disease Quality of Life Questionnaire Summary-Index) and caregiver status (e.g., Zarit Caregiver Burden Inventory); (2) follow-up includes annual (patients) or biannual (caregivers and controls) evaluations. Serum biomarkers (S-100b protein, TNF-α, IL-1, IL-2, IL-6, vitamin B12, methylmalonic acid, homocysteine, uric acid, C-reactive protein, ferritin, iron) and brain MRI (volumetry, tractography and MTAi [Medial Temporal Atrophy Index]), at baseline and at the end of follow

  12. Caenorhabditis elegans as a model to study renal development and disease: sexy cilia.

    PubMed

    Barr, Maureen M

    2005-02-01

    The nematode Caenorhabditis elegans has no kidney per se, yet "the worm" has proved to be an excellent model to study renal-related issues, including tubulogenesis of the excretory canal, membrane transport and ion channel function, and human genetic diseases including autosomal dominant polycystic kidney disease (ADPKD). The goal of this review is to explain how C. elegans has provided insight into cilia development, cilia function, and human cystic kidney diseases.

  13. Inverse Association of Parkinson Disease With Systemic Lupus Erythematosus: A Nationwide Population-based Study.

    PubMed

    Liu, Feng-Cheng; Huang, Wen-Yen; Lin, Te-Yu; Shen, Chih-Hao; Chou, Yu-Ching; Lin, Cheng-Li; Lin, Kuen-Tze; Kao, Chia-Hung

    2015-11-01

    The effects of the inflammatory mediators involved in systemic lupus erythematous (SLE) on subsequent Parkinson disease have been reported, but no relevant studies have focused on the association between the 2 diseases. This nationwide population-based study evaluated the risk of Parkinson disease in patients with SLE.We identified 12,817 patients in the Taiwan National Health Insurance database diagnosed with SLE between 2000 and 2010 and compared the incidence rate of Parkinson disease among these patients with that among 51,268 randomly selected age and sex-matched non-SLE patients. A Cox multivariable proportional-hazards model was used to evaluate the risk factors of Parkinson disease in the SLE cohort.We observed an inverse association between a diagnosis of SLE and the risk of subsequent Parkinson disease, with the crude hazard ratio (HR) being 0.60 (95% confidence interval 0.45-0.79) and adjusted HR being 0.68 (95% confidence interval 0.51-0.90). The cumulative incidence of Parkinson disease was 0.83% lower in the SLE cohort than in the non-SLE cohort. The adjusted HR of Parkinson disease decreased as the follow-up duration increased and was decreased among older lupus patients with comorbidity.We determined that patients with SLE had a decreased risk of subsequent Parkinson disease. Further research is required to elucidate the underlying mechanism.

  14. Retinopathy and chronic kidney disease in the Chronic Renal Insufficiency Cohort (CRIC) study.

    PubMed

    Grunwald, Juan E; Alexander, Judith; Ying, Gui-Shuang; Maguire, Maureen; Daniel, Ebenezer; Whittock-Martin, Revell; Parker, Candace; McWilliams, Kathleen; Lo, Joan C; Go, Alan; Townsend, Raymond; Gadegbeku, Crystal A; Lash, James P; Fink, Jeffrey C; Rahman, Mahboob; Feldman, Harold; Kusek, John W; Xie, Dawei; Jaar, Bernard G

    2012-09-01

    To investigate the association between retinopathy and chronic kidney disease. In this observational, cross-sectional study, 2605 patients of the Chronic Renal Insufficiency Cohort (CRIC) study, a multicenter study of chronic kidney disease, were offered participation. Nonmydriatic fundus photographs of the disc and macula in both eyes were obtained in 1936 of these subjects. The photographs were reviewed in a masked fashion at a central photograph reading center using standard protocols. Presence and severity of retinopathy (diabetic, hypertensive, or other) and vessel diameter caliber were assessed by trained graders and a retinal specialist using protocols developed for large epidemiologic studies. Kidney function measurements and information on traditional and nontraditional risk factors for decreased kidney function were obtained from the CRIC study. Greater severity of retinopathy was associated with lower estimated glomerular filtration rate after adjustment for traditional and nontraditional risk factors. The presence of vascular abnormalities usually associated with hypertension was also associated with lower estimated glomerular filtration rate. We found no strong direct relationship between estimated glomerular filtration rate and average arteriolar or venular calibers. Our findings show a strong association between severity of retinopathy and its features and level of kidney function after adjustment for traditional and nontraditional risk factors for chronic kidney disease, suggesting that retinovascular pathology reflects renal disease.

  15. Network-based study reveals potential infection pathways of hepatitis-C leading to various diseases.

    PubMed

    Mukhopadhyay, Anirban; Maulik, Ujjwal

    2014-01-01

    Protein-protein interaction network-based study of viral pathogenesis has been gaining popularity among computational biologists in recent days. In the present study we attempt to investigate the possible pathways of hepatitis-C virus (HCV) infection by integrating the HCV-human interaction network, human protein interactome and human genetic disease association network. We have proposed quasi-biclique and quasi-clique mining algorithms to integrate these three networks to identify infection gateway host proteins and possible pathways of HCV pathogenesis leading to various diseases. Integrated study of three networks, namely HCV-human interaction network, human protein interaction network, and human proteins-disease association network reveals potential pathways of infection by the HCV that lead to various diseases including cancers. The gateway proteins have been found to be biologically coherent and have high degrees in human interactome compared to the other virus-targeted proteins. The analyses done in this study provide possible targets for more effective anti-hepatitis-C therapeutic involvement.

  16. Network-Based Study Reveals Potential Infection Pathways of Hepatitis-C Leading to Various Diseases

    PubMed Central

    Mukhopadhyay, Anirban; Maulik, Ujjwal

    2014-01-01

    Protein-protein interaction network-based study of viral pathogenesis has been gaining popularity among computational biologists in recent days. In the present study we attempt to investigate the possible pathways of hepatitis-C virus (HCV) infection by integrating the HCV-human interaction network, human protein interactome and human genetic disease association network. We have proposed quasi-biclique and quasi-clique mining algorithms to integrate these three networks to identify infection gateway host proteins and possible pathways of HCV pathogenesis leading to various diseases. Integrated study of three networks, namely HCV-human interaction network, human protein interaction network, and human proteins-disease association network reveals potential pathways of infection by the HCV that lead to various diseases including cancers. The gateway proteins have been found to be biologically coherent and have high degrees in human interactome compared to the other virus-targeted proteins. The analyses done in this study provide possible targets for more effective anti-hepatitis-C therapeutic involvement. PMID:24743187

  17. Culture, Disease, and Stress among Latino Immigrants. RIIES Special Study.

    ERIC Educational Resources Information Center

    Cohen, Lucy M.

    This study examines culture and illness among Latino immigrants living in Washington, D.C. Both newcomers and established residents with Latin American origins are included in three levels of inquiry: (1) a study of beliefs and perceptions about disease and the practices followed in the management of illness; (2) the identification of levels of…

  18. A content validity study of signs, symptoms and diseases/health problems expressed in LIBRAS.

    PubMed

    Aragão, Jamilly da Silva; de França, Inacia Sátiro Xavier; Coura, Alexsandro Silva; de Sousa, Francisco Stélio; Batista, Joana D'arc Lyra; Magalhães, Isabella Medeiros de Oliveira

    2015-01-01

    To validate the content of signs, symptoms and diseases/health problems expressed in LIBRAS for people with deafness. Method: Methodological development study, which involved 36 people with deafness and three LIBRAS specialists. The study was conducted in three stages: investigation of the signs, symptoms and diseases/health problems, referred to by people with deafness, reported in a questionnaire; video recordings of how people with deafness express, through LIBRA, the signs, symptoms and diseases/health problems; and validation of the contents of the recordings of the expressions by LIBRAS specialists. Data were processed in a spreadsheet and analyzed using univariate tables, with absolute frequencies and percentages. The validation results were analyzed using the Content Validity Index (CVI). 33 expressions in LIBRAS, of signs, symptoms and diseases/health problems were evaluated, and 28 expressions obtained a satisfactory CVI (1.00). The signs, symptoms and diseases/health problems expressed in LIBRAS presented validity, in the study region, for health professionals, especially nurses, for use in the clinical anamnesis of the nursing consultation for people with deafness.

  19. Dermatophytes and other fungi associated with skin mycoses in Tripoli, Libya.

    PubMed

    Ellabib, M S; Khalifa, Z; Kavanagh, K

    2002-04-01

    This study sought to determine the prevalence of skin infections and their causative agents in the Libyan population. Samples were collected from 2224 patients attending the Dermatology Clinics of the Tripoli Medical Centre (TMC) between August 1997 and December 1999 and were submitted to a mycology laboratory for analysis. Diagnosis was confirmed by microscopic examination in 1180 cases (53.1%) and the causative agent was isolated and cultured in 1160 cases (52.2%). Dermatophytes, Malassezia furfur and Candida albicans were the most common etiological agents isolated. Tinea corporis accounted for 45.9% of cases (85% of cases occurred in children below 15 years of age). The frequency of the other clinical types in descending order was pityriasis versicolor 27.8% (322 cases), candidiosis 13.4% (156 cases), tinea pedis 8.1% (94 cases), tinea manuum 2.6% (30 cases) and tinea barbae 2.2% (26 cases). Trichophyton violaceum was the most common etiological agent, responsible for 44% (300 cases) of dermatophyte infections. Malassezia furfur was ranked the second most frequent causative agent being found in 27.8% of cases, followed by Trichophyton rubrum 13.8% (160 cases) and Candida albicans 10% (116 cases). Other species isolated included Microsporum canis 8.1% (94 cases), Epidermophyton floccosum 6.6% (76 cases) and Trichophyton mentagrophytes 3.1% (36 cases).

  20. Complementary acupuncture in Parkinson's disease: a spect study.

    PubMed

    Huang, Yong; Jiang, Xuemei; Zhuo, Ying; Wik, Gustav

    2010-02-01

    We studied cerebral effects of complementary acupuncture in Parkinson's disease using single photon emission computed tomography (SPECT) measures of 99mTc-ECD and 99mTc-TRODAT-4, before and after five weeks of treatment. Ten patients were randomly assigned to receive levodopa alone (controls) or levodopa and complementary scalp electro-acupuncture. Before treatment, no hemispheric regional cerebral blood flow (rCBF) differences were found, whereas striatal dopamine transporter (DAT) activity was lower in the most affected hemisphere. Treatment with levodopa alone did not change rCBF, whereas it increased basal ganglion DAT activity in the most affected hemisphere. Patients who received levodopa and complementary acupuncture had increased rCBF in the frontal lobe, the occipital lobe, the basal ganglion, and the cerebellum in the most affected hemisphere as compared to baseline, but there were no changes in basal ganglia DAT levels. Thus, complementary acupuncture treatment in Parkinson's disease may affect rCBF but not basal ganglion DAT.

  1. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies.

    PubMed

    Miller, Patti J; Dimitrov, Kiril M; Williams-Coplin, Dawn; Peterson, Melanie P; Pantin-Jackwood, Mary J; Swayne, David E; Suarez, David L; Afonso, Claudio L

    2015-01-01

    Infections of poultry species with virulent strains of Newcastle disease virus (NDV) cause Newcastle disease (ND), one of the most economically significant and devastating diseases for poultry producers worldwide. Biological engagement programs between the Southeast Poultry Research Laboratory (SEPRL) of the United States Department of Agriculture and laboratories from Russia, Pakistan, Ukraine, Kazakhstan, and Indonesia collectively have produced a better understanding of the genetic diversity and evolution of the viruses responsible for ND, which is crucial for the control of the disease. The data from Kazakhstan, Russia, and Ukraine identified possible migratory routes for birds that may carry both virulent NDV (vNDV) and NDV of low virulence into Europe. In addition, related NDV strains were isolated from wild birds in Ukraine and Nigeria, and from birds in continental USA, Alaska, Russia, and Japan, identifying wild birds as a possible mechanism of intercontinental spread of NDV of low virulence. More recently, the detection of new sub-genotypes of vNDV suggests that a new, fifth, panzootic of ND has already originated in Southeast Asia, extended to the Middle East, and is now entering into Eastern Europe. Despite expected challenges when multiple independent laboratories interact, many scientists from the collaborating countries have successfully been trained by SEPRL on molecular diagnostics, best laboratory practices, and critical biosecurity protocols, providing our partners the capacity to further train other employes and to identify locally the viruses that cause this OIE listed disease. These and other collaborations with partners in Mexico, Bulgaria, Israel, and Tanzania have allowed SEPRL scientists to engage in field studies, to elucidate more aspects of ND epidemiology in endemic countries, and to understand the challenges that the scientists and field veterinarians in these countries face on a daily basis. Finally, new viral characterization tools

  2. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies

    PubMed Central

    Miller, Patti J.; Dimitrov, Kiril M.; Williams-Coplin, Dawn; Peterson, Melanie P.; Pantin-Jackwood, Mary J.; Swayne, David E.; Suarez, David L.; Afonso, Claudio L.

    2015-01-01

    Infections of poultry species with virulent strains of Newcastle disease virus (NDV) cause Newcastle disease (ND), one of the most economically significant and devastating diseases for poultry producers worldwide. Biological engagement programs between the Southeast Poultry Research Laboratory (SEPRL) of the United States Department of Agriculture and laboratories from Russia, Pakistan, Ukraine, Kazakhstan, and Indonesia collectively have produced a better understanding of the genetic diversity and evolution of the viruses responsible for ND, which is crucial for the control of the disease. The data from Kazakhstan, Russia, and Ukraine identified possible migratory routes for birds that may carry both virulent NDV (vNDV) and NDV of low virulence into Europe. In addition, related NDV strains were isolated from wild birds in Ukraine and Nigeria, and from birds in continental USA, Alaska, Russia, and Japan, identifying wild birds as a possible mechanism of intercontinental spread of NDV of low virulence. More recently, the detection of new sub-genotypes of vNDV suggests that a new, fifth, panzootic of ND has already originated in Southeast Asia, extended to the Middle East, and is now entering into Eastern Europe. Despite expected challenges when multiple independent laboratories interact, many scientists from the collaborating countries have successfully been trained by SEPRL on molecular diagnostics, best laboratory practices, and critical biosecurity protocols, providing our partners the capacity to further train other employes and to identify locally the viruses that cause this OIE listed disease. These and other collaborations with partners in Mexico, Bulgaria, Israel, and Tanzania have allowed SEPRL scientists to engage in field studies, to elucidate more aspects of ND epidemiology in endemic countries, and to understand the challenges that the scientists and field veterinarians in these countries face on a daily basis. Finally, new viral characterization tools

  3. Cerebrospinal fluid biochemical studies in patients with Parkinson's disease: toward a potential search for biomarkers for this disease

    PubMed Central

    Jiménez-Jiménez, Félix J.; Alonso-Navarro, Hortensia; García-Martín, Elena; Agúndez, José A. G.

    2014-01-01

    The blood-brain barrier supplies brain tissues with nutrients and filters certain compounds from the brain back to the bloodstream. In several neurodegenerative diseases, including Parkinson's disease (PD), there are disruptions of the blood-brain barrier. Cerebrospinal fluid (CSF) has been widely investigated in PD and in other parkinsonian syndromes with the aim of establishing useful biomarkers for an accurate differential diagnosis among these syndromes. This review article summarizes the studies reported on CSF levels of many potential biomarkers of PD. The most consistent findings are: (a) the possible role of CSF urate on the progression of the disease; (b) the possible relations of CSF total tau and phosphotau protein with the progression of PD and with the preservation of cognitive function in PD patients; (c) the possible value of CSF beta-amyloid 1-42 as a useful marker of further cognitive decline in PD patients, and (d) the potential usefulness of CSF neurofilament (NFL) protein levels in the differential diagnosis between PD and other parkinsonian syndromes. Future multicentric, longitudinal, prospective studies with long-term follow-up and neuropathological confirmation would be useful in establishing appropriate biomarkers for PD. PMID:25426023

  4. Invasive mold infections: virulence and pathogenesis of mucorales.

    PubMed

    Morace, Giulia; Borghi, Elisa

    2012-01-01

    Mucorales have been increasingly reported as cause of invasive fungal infections in immunocompromised subjects, particularly in patients with haematological malignancies or uncontrolled diabetes mellitus and in those under deferoxamine treatment or undergoing dialysis. The disease often leads to a fatal outcome, but the pathogenesis of the infection is still poorly understood as well as the role of specific virulence determinants and the interaction with the host immune system. Members of the order Mucorales are responsible of almost all cases of invasive mucormycoses, the majority of the etiological agents belonging to the Mucoraceae family. Mucorales are able to produce various proteins and metabolic products toxic to animals and humans, but the pathogenic role of these potential virulence factors is unknown. The availability of free iron in plasma and tissues is believed to be crucial for the pathogenesis of these mycoses. Vascular invasion and neurotropism are considered common pathogenic features of invasive mucormycoses.

  5. Celiac Disease in Children with Severe Acute Malnutrition (SAM): A Hospital Based Study.

    PubMed

    Beniwal, Neetu; Ameta, Gaurav; Chahar, Chandra Kumar

    2017-05-01

    To evaluate the prevalence and clinical features of Celiac disease among children with severe acute malnutrition (SAM). This prospective observational study was conducted in PBM Children Hospital, Bikaner from July 2012 through December 2013. All consecutively admitted children with SAM were recruited. All subjects were screened for Celiac disease by serological test for IgA-anti tissue Transglutaminase (IgA tTG) antibodies. All seropositive children underwent upper gastrointestinal endoscopy for small bowel biopsy for the confirmation. Clinical features of patients with and without celiac disease were compared. The sero-prevalence (IgA tTg positivity) of Celiac disease was found to be 15.38% while prevalence of biopsy confirmed Celiac disease was 14.42% among SAM children. Abdominal distension, diarrhea, anorexia, constipation, pain in abdomen, vitamin deficiencies, edema, clubbing and mouth ulcers were more common in patients of Celiac disease compared to patients without Celiac disease but the difference was statistically significant only for abdominal distension and pain abdomen. There is a high prevalence of Celiac disease in SAM. Screening for Celiac disease (especially in presence of pain abdomen and abdominal distension) should be an essential part of work-up in all children with SAM.

  6. Speech rate in Parkinson's disease: A controlled study.

    PubMed

    Martínez-Sánchez, F; Meilán, J J G; Carro, J; Gómez Íñiguez, C; Millian-Morell, L; Pujante Valverde, I M; López-Alburquerque, T; López, D E

    2016-09-01

    Speech disturbances will affect most patients with Parkinson's disease (PD) over the course of the disease. The origin and severity of these symptoms are of clinical and diagnostic interest. To evaluate the clinical pattern of speech impairment in PD patients and identify significant differences in speech rate and articulation compared to control subjects. Speech rate and articulation in a reading task were measured using an automatic analytical method. A total of 39 PD patients in the 'on' state and 45 age-and sex-matched asymptomatic controls participated in the study. None of the patients experienced dyskinesias or motor fluctuations during the test. The patients with PD displayed a significant reduction in speech and articulation rates; there were no significant correlations between the studied speech parameters and patient characteristics such as L-dopa dose, duration of the disorder, age, and UPDRS III scores and Hoehn & Yahr scales. Patients with PD show a characteristic pattern of declining speech rate. These results suggest that in PD, disfluencies are the result of the movement disorder affecting the physiology of speech production systems. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Determining the disease management process for epileptic patients: A qualitative study.

    PubMed

    Hosseini, Nazafarin; Sharif, Farkhondeh; Ahmadi, Fazlollah; Zare, Mohammad

    2016-01-01

    Epilepsy exposes patients to many physical, social, and emotional challenges. Thus, it seems to portray a complex picture and needs holistic care. Medical treatment and psychosocial part of epilepsy remain central to managing and improving the patient's qualify of life through team efforts. Some studies have shown the dimensions of self-management, but its management process of epilepsy patients, especially in Iran, is not clear. This study aimed to determine the disease management process in patients with epilepsy in Iran. This qualitative approach and grounded theory study was conducted from January 2009 to February 2012 in Isfahan city (Iran). Thirty-two participants were recruited by the goal-oriented, and snowball sample selection and theoretical sampling methods. After conducting a total of 43 in-depth interviews with the participants, the researchers reached data saturation. Data were analyzed using Strauss and Corbin method. With a focus on disease management process, researchers found three main themes and seven sub-themes as a psychosocial process (PSP). The main themes were: perception of threat to self-identity, effort to preserve self-identity, and burn out. The psychosocial aspect of the disease generated one main variable "the perception of identity loss" and one central variable "searching for self-identity." Participants attributed threat to self-identity and burn out to the way their disease was managed requiring efforts to preserve their identity. Recommendations consist of support programs and strategies to improve the public perception of epilepsy in Iran, help patients accept their condition and preserve self-identity, and most importantly, enhance medical management of epilepsy.

  8. Association between consumption of soy and risk of cardiovascular disease: A meta-analysis of observational studies.

    PubMed

    Yan, Zhaoli; Zhang, Xinyue; Li, Chunlin; Jiao, Shouchun; Dong, Wenyao

    2017-05-01

    Background The relationships between dietary intake of soy foods and risk of cardiovascular disease are uncertain. The aims of this study were to evaluate and summarize the evidence on the association between consumption of soy and risk of cardiovascular disease (including stroke and coronary heart disease). Methods We systematically searched the MEDLINE and EMBASE databases from their inception up to 22 February 2016. We included only observational studies, and used random-effects models to calculate summary relative risks (SRRs) and 95% confidence intervals (CIs). Results A total of 10 prospective cohort and seven case-control studies met the inclusion criteria. There were a total of 17,269 cardiovascular disease events, including 6265 stroke events, 10,806 coronary heart disease events, and 198 other cardiovascular disease events. A significant negative association was shown between soy intake and risk of cardiovascular disease (SRR = 0.84 95% CI: 0.75-0.94; p heterogeneity <0.001, I 2  = 71.4%). Subgroup meta-analyses indicated that a statistically significant protective effect was primarily observed in case-control studies and in Asian populations. There was a borderline significant association between intake of tofu and the risk of cardiovascular disease (SRR = 0.80, 95% CI: 0.64-1.00). A significant negative association was shown for the association between soy intake and risk of stroke (SRR = 0.82, 95% CI: 0.68-0.99) and coronary heart disease (SRR = 0.83, 95% CI: 0.72-0.95). There were no associations between soy isoflavones consumption and risk of cardiovascular disease, stroke, and coronary heart disease. Conclusion Overall evidence indicated that consumption of soy was negatively associated with the risk of cardiovascular disease, stroke, and coronary heart disease risk.

  9. Epidemiology and the control of disease in China, with emphasis on the Chinese Biobank Study

    PubMed Central

    Li, L.; Guo, Y.; Chen, Z.; Chen, J.; Peto, R.

    2015-01-01

    summary Similar to many other developing countries, China is facing a double burden of disease as a result of epidemiological transition. Non-communicable diseases (NCDs) represent a major challenge, having an adverse effect on the health of the Chinese population and increasing the economic burden of health care. In today’s era of evidence-based medicine and decision making, China, as a developing country, has a lack of local scientific evidence which will affect the effectiveness of NCD prevention and control. As such, and on the basis of decades of cooperation and trust with the University of Oxford, the Chinese Biobank Study [Kadoorie Study of Chronic Disease in China (KSCDC)] was commenced in 2004. KSCDC, an international prospective project, aims to establish the basis of a blood-based health database, using genetic, environmental and lifestyle aspects to investigate and understand the causes, risk factors, pathogenesis, prevalence patterns and trends of major chronic diseases in China (such as stroke, coronary heart disease, cancer, diabetes, hypertension, chronic obstructive pulmonary disease etc.). This study has a duration of 15–20 years, and will provide scientific evidence for strategic planning of NCD prevention and control, and development of new treatment and intervention approaches. In total, approximately 510,000 adults aged 30–79 years have been recruited from the general population in 10 geographically defined regions (five rural and five urban) of China, with differing disease profiles and differing risk exposures. Extensive data collection has been undertaken with questionnaires, physical measurements, and collection and storage of blood samples. KSCDC is a multi-factor, multi-disease, multi-disciplinary large-scale chronic disease epidemiological study, and is also one of the largest long-term blood-based population cohort studies ever conducted in the world. It is worth mentioning that all gene specimens are kept in China, and all

  10. Risk of Periodontal Disease in Patients With Asthma: A Nationwide Population-Based Retrospective Cohort Study.

    PubMed

    Shen, Te-Chun; Chang, Pei-Ying; Lin, Cheng-Li; Wei, Chang-Ching; Tu, Chih-Yen; Hsia, Te-Chun; Shih, Chuen-Ming; Hsu, Wu-Huei; Sung, Fung-Chang; Kao, Chia-Hung

    2017-08-01

    Studies have reported an association between asthma and oral diseases, including periodontal diseases. The aim of this retrospective study is to investigate risk of periodontal diseases for patients with asthma. Using the claims data of National Health Insurance of Taiwan and patients without a history of periodontal diseases, 19,206 asthmatic patients, who were newly diagnosed from 2000 through 2010, were identified. For each case, four comparison individuals without history of asthma and periodontal disease were randomly selected from the general population and frequency matched (categorical matched) by sex, age, and year of diagnosis (n = 76,824). Both cohorts were followed to the end of 2011 to monitor occurrence of periodontal diseases. Adjusted hazard ratios (aHRs) of periodontal disease were estimated using Cox proportional hazards regression analysis. Overall incidence of periodontal diseases was 1.18-fold greater in the asthma cohort than in the comparison cohort (P <0.001). Patients with at least three emergency visits annually had an aHR of 55.9 (95% confidence interval [CI] = 50.6 to 61.7) for periodontal diseases compared with those with a mean of less than one visit. Patients with at least three admissions annually also had a similar aHR (51.8) for periodontal disease. In addition, asthmatic patients on inhaled corticosteroid (ICS) therapy had greater aHRs than non-users (aHR = 1.12; 95% CI = 1.03 to 1.23). In the studied population, asthmatic patients are at an elevated risk of developing periodontal diseases. The risk is much greater for those with emergency medical demands or hospital admissions and those on ICS treatment.

  11. Infections in Hematopoietic Cell Transplant Recipients: Results From the Organ Transplant Infection Project, a Multicenter, Prospective, Cohort Study

    PubMed Central

    Cleveland, Angela A.; Dubberke, Erik R.; Kauffman, Carol A.; Avery, Robin K.; Husain, Shahid; Paterson, David L.; Silveira, Fernanda P.; Chiller, Tom M.; Benedict, Kaitlin; Murphy, Kathleen; Pappas, Peter G.

    2017-01-01

    Abstract Background. Infection is a major cause of morbidity and mortality after allogeneic hematopoietic cell transplantation (HCT). Our object was to better define the epidemiology and outcomes of infections after HCT. Methods. This was a prospective, multicenter cohort study of HCT recipients and conducted from 2006 to 2011. The study included 4 US transplant centers and 444 HCT recipients. Data were prospectively collected for up to 30 months after HCT using a standardized data collection tool. Results. The median age was 53 years, and median follow up was 413 (range, 5–980) days. The most common reason for HCT was hematologic malignancy (87%). The overall crude mortality was 52%. Death was due to underlying disease in 44% cases and infection in 21%. Bacteremia occurred in 231 (52%) cases and occurred early posttransplant (median day 48). Gram-negative bloodstream infections were less frequent than Gram-positive, but it was associated with higher mortality (45% vs 13%, P = .02). Clostridium difficile infection developed in 148 patients (33%) at a median of 27 days post-HCT. There were 53 invasive fungal infections (IFIs) among 48 patients (11%). The median time to IFI was 142 days. Of 155 patients with cytomegalovirus (CMV) infection, 4% had CMV organ involvement. Varicella zoster infection (VZV) occurred in 13 (4%) cases and was disseminated in 2. Infection with respiratory viruses was seen in 49 patients. Pneumocystis jirovecii pneumonia was rare (1%), and there were no documented cases of nocardiosis, toxoplasmosis, endemic mycoses, or mycobacterial infection. This study lacked standardized antifungal and antiviral prophylactic strategies. Conclusions. Infection remains a significant cause of morbidity and mortality after HCT. Bacteremias and C difficile infection are frequent, particularly in the early posttransplant period. The rate of IFI is approximately 10%. Organ involvement with CMV is infrequent, as are serious infections with VZV and herpes

  12. A cohort study of Danish patients with interstitial lung diseases: burden, severity, treatment and survival.

    PubMed

    Hyldgaard, Charlotte

    2015-04-01

    Interstitial lung diseases (ILDs) form a heterogeneous group of rare diseases characterised by varying degrees of pulmonary inflammation and fibrosis. We hypothesised that IPF and unclassifiable ILD were common in a Danish ILD cohort and that prognostic factors based on disease characteristics and comorbidities could be identified The aims of the PhD study were to describe the demographics of ILD in Central Denmark, to characterise the distribution of ILD diagnoses, and to assess prognostic factors in IPF and unclassifiable ILD. The study is based on a cohort of 431 ILD patients referred to our department during a 6-year period. All ILD diagnoses were re-evaluated according to current diagnostic criteria. Patients were followed from the time of first visit on suspicion of an ILD to the last visit to the centre, death, transplantation, or discharge from follow-up. The incidence of ILD was 4.1 per 100,000 inhabitants, and the incidence of IPF was 1.3 per 100,000 inhabitants in Central Den-mark. The most frequently occurring ILDs were IPF (28%), unclassifiable ILDs (extensive fibrotic disease and other unclassifiable ILDs) (24%), connective tissue disease-related ILD (14%), hyper-sensitivity pneumonitis (7%) and NSIP (7%). Cardiovascular dis-ease was present in 21% of the patients. The presence of cardio-vascular disease at the time of IPF diagnosis did not lead to increased mortality, whereas cardiovascular disease diagnosed during the course of IPF was a statistically significant predictor of mortality. Our study also showed that diabetes and concomitant anticoagulant therapy were associated with worse outcome in IPF, and that a simple HRCT scoring system could be used in the prediction of outcome in fibrotic ILDs. The study of unclassifiable ILD revealed two disease categories: one group characterised by extensive fibrotic disease and one characterised by more inflammatory features. The latter group was characterised by younger age and significantly better

  13. A retrospective study of diseases in Ambystoma mexicanum: a report of 97 cases

    PubMed Central

    TAKAMI, Yoshinori; UNE, Yumi

    2017-01-01

    Ambystoma mexicanum kept as pets are affected by a variety of diseases. However, no reports regarding the incidence of specific diseases are available. This study aimed to identify the diseases that occur frequently in this species by surveying the incidence of conditions in pet A. mexicanum specimens brought to a veterinary hospital. The sample comprised 97 pet A. mexicanum individuals brought to the authors’ hospital during the 82-month period, i.e., from January 2008 to October 2014. In total, 116 diseases were identified. The most common disease was hydrocoelom (32 cases; 27.5% of all cases). Elucidating the pathogenesis of hydrocoelom, which has a high prevalence rate, is vital to maintaining the long-term health of A. mexicanum pets. PMID:28529268

  14. A retrospective study of diseases in Ambystoma mexicanum: a report of 97 cases.

    PubMed

    Takami, Yoshinori; Une, Yumi

    2017-06-16

    Ambystoma mexicanum kept as pets are affected by a variety of diseases. However, no reports regarding the incidence of specific diseases are available. This study aimed to identify the diseases that occur frequently in this species by surveying the incidence of conditions in pet A. mexicanum specimens brought to a veterinary hospital. The sample comprised 97 pet A. mexicanum individuals brought to the authors' hospital during the 82-month period, i.e., from January 2008 to October 2014. In total, 116 diseases were identified. The most common disease was hydrocoelom (32 cases; 27.5% of all cases). Elucidating the pathogenesis of hydrocoelom, which has a high prevalence rate, is vital to maintaining the long-term health of A. mexicanum pets.

  15. Health Information-Seeking Patterns of the General Public and Indications for Disease Surveillance: Register-Based Study Using Lyme Disease.

    PubMed

    Pesälä, Samuli; Virtanen, Mikko J; Sane, Jussi; Mustonen, Pekka; Kaila, Minna; Helve, Otto

    2017-11-06

    People using the Internet to find information on health issues, such as specific diseases, usually start their search from a general search engine, for example, Google. Internet searches such as these may yield results and data of questionable quality and reliability. Health Library is a free-of-charge medical portal on the Internet providing medical information for the general public. Physician's Databases, an Internet evidence-based medicine source, provides medical information for health care professionals (HCPs) to support their clinical practice. Both databases are available throughout Finland, but the latter is used only by health professionals and pharmacies. Little is known about how the general public seeks medical information from medical sources on the Internet, how this behavior differs from HCPs' queries, and what causes possible differences in behavior. The aim of our study was to evaluate how the general public's and HCPs' information-seeking trends from Internet medical databases differ seasonally and temporally. In addition, we aimed to evaluate whether the general public's information-seeking trends could be utilized for disease surveillance and whether media coverage could affect these seeking trends. Lyme disease, serving as a well-defined disease model with distinct seasonal variation, was chosen as a case study. Two Internet medical databases, Health Library and Physician's Databases, were used. We compared the general public's article openings on Lyme disease from Health Library to HCPs' article openings on Lyme disease from Physician's Databases seasonally across Finland from 2011 to 2015. Additionally, media publications related to Lyme disease were searched from the largest and most popular media websites in Finland. Both databases, Health Library and Physician's Databases, show visually similar patterns in temporal variations of article openings on Lyme disease in Finland from 2011 to 2015. However, Health Library openings show not only

  16. Knowledge and pharmacological management of Alzheimer's disease by managing community pharmacists: a nationwide study.

    PubMed

    Zerafa, Natalie; Scerri, Charles

    2016-12-01

    Background Managing community pharmacists can play a leading role in supporting community dwelling individuals with Alzheimer's disease and their caregivers. Objective The main purpose of this study was to assess knowledge of managing community pharmacists towards Alzheimer's disease and its pharmacological management. Setting Community pharmacies in the Maltese islands. Method A nationwide survey was conducted with full-time managing community pharmacists in possession of a tertiary education degree in pharmacy studies. The level of knowledge was investigated using the Alzheimer's Disease Knowledge Scale and the Alzheimer's Disease Pharmacotherapy Measure. Participants were also asked to rate a number of statements related to disease management. Results Maltese managing community pharmacists (57 % response rate) had inadequate knowledge on risk factors, caregiving issues and pharmacological management of Alzheimer's disease. Age and number of years working in a community pharmacy setting were found to be negatively correlated with increased knowledge. Conclusion The findings highlight the need of providing training and continued educational support to managing community pharmacists in order to provide quality advice to individuals with dementia and their caregivers in the community.

  17. Women, men, and rheumatoid arthritis: analyses of disease activity, disease characteristics, and treatments in the QUEST-RA study.

    PubMed

    Sokka, Tuulikki; Toloza, Sergio; Cutolo, Maurizio; Kautiainen, Hannu; Makinen, Heidi; Gogus, Feride; Skakic, Vlado; Badsha, Humeira; Peets, Tõnu; Baranauskaite, Asta; Géher, Pál; Ujfalussy, Ilona; Skopouli, Fotini N; Mavrommati, Maria; Alten, Rieke; Pohl, Christof; Sibilia, Jean; Stancati, Andrea; Salaffi, Fausto; Romanowski, Wojciech; Zarowny-Wierzbinska, Danuta; Henrohn, Dan; Bresnihan, Barry; Minnock, Patricia; Knudsen, Lene Surland; Jacobs, Johannes Wg; Calvo-Alen, Jaime; Lazovskis, Juris; Pinheiro, Geraldo da Rocha Castelar; Karateev, Dmitry; Andersone, Daina; Rexhepi, Sylejman; Yazici, Yusuf; Pincus, Theodore

    2009-01-01

    Gender as a predictor of outcomes of rheumatoid arthritis (RA) has evoked considerable interest over the decades. Historically, there is no consensus whether RA is worse in females or males. Recent reports suggest that females are less likely than males to achieve remission. Therefore, we aimed to study possible associations of gender and disease activity, disease characteristics, and treatments of RA in a large multinational cross-sectional cohort of patients with RA called Quantitative Standard Monitoring of Patients with RA (QUEST-RA). The cohort includes clinical and questionnaire data from patients who were seen in usual care, including 6,004 patients at 70 sites in 25 countries as of April 2008. Gender differences were analyzed for American College of Rheumatology Core Data Set measures of disease activity, DAS28 (disease activity score using 28 joint counts), fatigue, the presence of rheumatoid factor, nodules and erosions, and the current use of prednisone, methotrexate, and biologic agents. Women had poorer scores than men in all Core Data Set measures. The mean values for females and males were swollen joint count-28 (SJC28) of 4.5 versus 3.8, tender joint count-28 of 6.9 versus 5.4, erythrocyte sedimentation rate of 30 versus 26, Health Assessment Questionnaire of 1.1 versus 0.8, visual analog scales for physician global estimate of 3.0 versus 2.5, pain of 4.3 versus 3.6, patient global status of 4.2 versus 3.7, DAS28 of 4.3 versus 3.8, and fatigue of 4.6 versus 3.7 (P < 0.001). However, effect sizes were small-medium and smallest (0.13) for SJC28. Among patients who had no or minimal disease activity (0 to 1) on SJC28, women had statistically significantly higher mean values compared with men in all other disease activity measures (P < 0.001) and met DAS28 remission less often than men. Rheumatoid factor was equally prevalent among genders. Men had nodules more often than women. Women had erosions more often than men, but the statistical significance

  18. Women, men, and rheumatoid arthritis: analyses of disease activity, disease characteristics, and treatments in the QUEST-RA Study

    PubMed Central

    Sokka, Tuulikki; Toloza, Sergio; Cutolo, Maurizio; Kautiainen, Hannu; Makinen, Heidi; Gogus, Feride; Skakic, Vlado; Badsha, Humeira; Peets, Tõnu; Baranauskaite, Asta; Géher, Pál; Újfalussy, Ilona; Skopouli, Fotini N; Mavrommati, Maria; Alten, Rieke; Pohl, Christof; Sibilia, Jean; Stancati, Andrea; Salaffi, Fausto; Romanowski, Wojciech; Zarowny-Wierzbinska, Danuta; Henrohn, Dan; Bresnihan, Barry; Minnock, Patricia; Knudsen, Lene Surland; Jacobs, Johannes WG; Calvo-Alen, Jaime; Lazovskis, Juris; Pinheiro, Geraldo da Rocha Castelar; Karateev, Dmitry; Andersone, Daina; Rexhepi, Sylejman; Yazici, Yusuf; Pincus, Theodore

    2009-01-01

    Introduction Gender as a predictor of outcomes of rheumatoid arthritis (RA) has evoked considerable interest over the decades. Historically, there is no consensus whether RA is worse in females or males. Recent reports suggest that females are less likely than males to achieve remission. Therefore, we aimed to study possible associations of gender and disease activity, disease characteristics, and treatments of RA in a large multinational cross-sectional cohort of patients with RA called Quantitative Standard Monitoring of Patients with RA (QUEST-RA). Methods The cohort includes clinical and questionnaire data from patients who were seen in usual care, including 6,004 patients at 70 sites in 25 countries as of April 2008. Gender differences were analyzed for American College of Rheumatology Core Data Set measures of disease activity, DAS28 (disease activity score using 28 joint counts), fatigue, the presence of rheumatoid factor, nodules and erosions, and the current use of prednisone, methotrexate, and biologic agents. Results Women had poorer scores than men in all Core Data Set measures. The mean values for females and males were swollen joint count-28 (SJC28) of 4.5 versus 3.8, tender joint count-28 of 6.9 versus 5.4, erythrocyte sedimentation rate of 30 versus 26, Health Assessment Questionnaire of 1.1 versus 0.8, visual analog scales for physician global estimate of 3.0 versus 2.5, pain of 4.3 versus 3.6, patient global status of 4.2 versus 3.7, DAS28 of 4.3 versus 3.8, and fatigue of 4.6 versus 3.7 (P < 0.001). However, effect sizes were small-medium and smallest (0.13) for SJC28. Among patients who had no or minimal disease activity (0 to 1) on SJC28, women had statistically significantly higher mean values compared with men in all other disease activity measures (P < 0.001) and met DAS28 remission less often than men. Rheumatoid factor was equally prevalent among genders. Men had nodules more often than women. Women had erosions more often than men, but

  19. Allergy-related diseases and recurrent abdominal pain during childhood - a birth cohort study.

    PubMed

    Olén, O; Neuman, Å; Koopmann, B; Ludvigsson, J F; Ballardini, N; Westman, M; Melén, E; Kull, I; Simrén, M; Bergström, A

    2014-12-01

    Allergy and immune dysregulation may have a role in the pathophysiology of recurrent abdominal pain of functional origin, but previous studies of allergy-related diseases and abdominal pain have contradictory results. To examine the association between allergy-related diseases or sensitisation during childhood and abdominal pain at age 12 years. In this birth cohort study of 4089 children, parents answered questionnaires regarding asthma, allergic rhinitis, eczema and food hypersensitivity ('allergy-related diseases') at ages 0,1,2,4,8 and 12 years. Blood for analyses of allergen-specific IgE was sampled at 4 and 8 years. At 12 years, the children answered questions regarding abdominal pain. Children with coeliac disease or inflammatory bowel disease were excluded. Associations were examined using multivariable logistic regression. Among 2610 children with complete follow-up, 9% (n = 237) reported abdominal pain at 12 years. All allergy-related diseases were associated with concurrent abdominal pain at 12 years and the risk increased with increasing number of allergy-related diseases (P for trend <0.001). Asthma at 1 and 2 years and food hypersensitivity at 8 years were significantly associated with abdominal pain at 12 years. There was an increased risk of abdominal pain at 12 years in children sensitised to food allergens at 4 or 8 years, but in stratified analyses, this was confined to children whose parents had not reported food hypersensitivity at time of sensitisation. Allergy-related diseases as well as sensitisation to food allergens were associated with an elevated risk of abdominal pain, and the risk increased with the number of allergy-related diseases. © 2014 John Wiley & Sons Ltd.

  20. Burns and long-term infectious disease morbidity: A population-based study.

    PubMed

    Duke, Janine M; Randall, Sean M; Wood, Fiona M; Boyd, James H; Fear, Mark W

    2017-03-01

    There is a growing volume of data that indicates that serious injury suppresses immune function, predisposing individuals to infectious complications. With recent evidence showing long-term immune dysfunction after less severe burn, this study aimed to investigate post-burn infectious disease morbidity and assess if burn patients have increased long-term hospital use for infectious diseases. A population-based longitudinal study using linked hospital morbidity and death data from Western Australia for all persons hospitalised for a first burn (n=30,997) in 1980-2012. A frequency matched non-injury comparison cohort was randomly selected from Western Australia's birth registrations and electoral roll (n=123,399). Direct standardisation was used to assess temporal trends in infectious disease admissions. Crude annual admission rates and length of stay for infectious diseases were calculated. Multivariate negative binomial and Cox proportional hazards regression modeling were used to generate adjusted incidence rate ratios (IRR) and hazard ratios (HR), respectively. After adjustment for demographic factors and pre-existing health status, the burn cohort had twice (IRR, 95% confidence interval (CI): 2.04, 1.98-2.22) as many admissions and 3.5 times the number of days in hospital (IRR, 95%CI: 3.46, 3.05-3.92) than the uninjured cohort for infectious diseases. Higher rates of infectious disease admissions were found for severe (IRR, 95%CI: 2.37, 1.89-2.97) and minor burns (IRR, 95%CI: 2.22, 2.11-2.33). Burns were associated with significantly increased incident admissions: 0-30days (HR, 95%CI: 5.18, 4.15-6.48); 30days-1year (HR, 95%CI: 1.69, 1.53-1.87); 1-10 years (HR, 95%CI: 1.40:1.33-1.47); >10years (HR, 95%CI: 1.16, 1.08-1.24). Respiratory, skin and soft tissue and gastrointestinal infections were the most common. The burn cohort had a 1.75 (95%CI: 1.37-2.25) times greater rate of mortality caused by infectious diseases during the 5-year period after discharge than

  1. Visceral Fat and Novel Biomarkers of Cardiovascular Disease in Patients With Addison's Disease: A Case-Control Study.

    PubMed

    Bergthorsdottir, Ragnhildur; Ragnarsson, Oskar; Skrtic, Stanko; Glad, Camilla A M; Nilsson, Staffan; Ross, Ian Louis; Leonsson-Zachrisson, Maria; Johannsson, Gudmundur

    2017-11-01

    Patients with Addison's disease (AD) have increased cardiovascular mortality. To study visceral fat and conventional and exploratory cardiovascular risk factors in patients with AD. A cross-sectional, single-center, case-control study. Patients (n = 76; n = 51 women) with AD and 76 healthy control subjects were matched for sex, age, body mass index (BMI), and smoking habits. The primary outcome variable was visceral abdominal adipose tissue (VAT) measured using computed tomography. Secondary outcome variables were prevalence of metabolic syndrome (MetS) and 92 biomarkers of cardiovascular disease. The mean ± standard deviation age of all subjects was 53 ± 14 years; mean BMI, 25 ± 4 kg/m2; and mean duration of AD, 17 ± 12 years. The median (range) daily hydrocortisone dose was 30 mg (10 to 50 mg). Median (interquartile range) 24-hour urinary free cortisol excretion was increased in patients vs controls [359 nmol (193 to 601 nmol) vs 175 nmol (140 to 244 nmol); P < 0.001]. VAT did not differ between groups. After correction for multiple testing, 17 of the 92 studied biomarkers differed significantly between patients and control subjects. Inflammatory, proinflammatory, and proatherogenic risk biomarkers were increased in patients [fold change (FC), >1] and vasodilatory protective marker was decreased (FC, <1). Twenty-six patients (34%) vs 12 control subjects (16%) fulfilled the criteria for MetS (P = 0.01). Despite higher cortisol exposure, VAT was not increased in patients with AD. The prevalence of MetS was increased and several biomarkers of cardiovascular disease were adversely affected in patients with AD. Copyright © 2017 Endocrine Society

  2. Computational intelligence in bioinformatics: SNP/haplotype data in genetic association study for common diseases.

    PubMed

    Kelemen, Arpad; Vasilakos, Athanasios V; Liang, Yulan

    2009-09-01

    Comprehensive evaluation of common genetic variations through association of single-nucleotide polymorphism (SNP) structure with common complex disease in the genome-wide scale is currently a hot area in human genome research due to the recent development of the Human Genome Project and HapMap Project. Computational science, which includes computational intelligence (CI), has recently become the third method of scientific enquiry besides theory and experimentation. There have been fast growing interests in developing and applying CI in disease mapping using SNP and haplotype data. Some of the recent studies have demonstrated the promise and importance of CI for common complex diseases in genomic association study using SNP/haplotype data, especially for tackling challenges, such as gene-gene and gene-environment interactions, and the notorious "curse of dimensionality" problem. This review provides coverage of recent developments of CI approaches for complex diseases in genetic association study with SNP/haplotype data.

  3. The LIFE child study: a life course approach to disease and health

    PubMed Central

    2012-01-01

    Background Profound knowledge about child growth, development, health, and disease in contemporary children and adolescents is still rare. Epidemiological studies together with new powerful research technologies present exciting opportunities to the elucidation of risk factor-outcome associations with potentially major consequences for prevention, diagnosis and treatment. Aim To conduct a unique prospective longitudinal cohort study in order to assess how environmental, metabolic and genetic factors affect growth, development and health from fetal life to adulthood. Methods The ‘Leipzig Research Centre for Civilization Diseases (LIFE) Child Study’ focuses on two main research objectives: (1) monitoring of normal growth, development and health; (2) non-communicable diseases such as childhood obesity and its co-morbidities, atopy and mental health problems. Detailed assessments will be conducted alongside long-term storage of biological samples in 2,000 pregnant women and more than 10,000 children and their families. Results Close coordination and engagement of a multidisciplinary team in the LIFE Child study successfully established procedures and systems for balancing many competing study and ethical needs. Full participant recruitment and complete data collection started in July 2011. Early data indicate a high acceptance rate of the study program, successful recruitment strategies and the establishment of a representative cohort for the population of Leipzig. A series of subprojects are ongoing, and analyses and publications are on their way. Discussion This paper addresses key elements in the design and implementation of the new prospective longitudinal cohort study LIFE Child. Given the recognized need for long-term data on adverse effects on health and protective factors, our study data collection should provide magnificent opportunities to examine complex interactions that govern the emergence of non-communicable diseases. PMID:23181778

  4. Wayfinding in Aging and Alzheimer’s Disease within a Virtual Senior Residence: Study Protocol

    PubMed Central

    DAVIS, Rebecca; OHMAN, Jennifer

    2017-01-01

    Aim To report a study protocol that examines the impact of adding salient cues within a virtual reality simulation of a senior residential building on wayfinding for older adults with and without Alzheimer’s disease. Background An early symptom of Alzheimer’s disease is the inability to find one’s way (wayfinding). Senior residential environments are especially difficult for wayfinding. Salient cues may be able to help persons with Alzheimer’s disease find their way more effectively so they can maintain independence. Design . A repeated measures, within and between subjects design. Methods This study was funded by the National Institutes of Health (August 2012). Older adults (n=40) with normal cognition and older adults with early stage Alzheimer’s disease/mild cognitive impairment (n=40) will try to find their way to a location repeatedly within a virtual reality simulation of senior residence. There are two environments: standard (no cues) and salient (multiple cues). Outcome measures include how often and how quickly participants find the target location in each cue condition. Discussion The results of this study have the potential to provide evidence for ways to make the environment more supportive for wayfinding for older adults with Alzheimer’s disease. This study is registered at Trialmatch.alz.org (Identifier 260425-5). PMID:26915997

  5. Applications of systems approaches in the study of rheumatic diseases.

    PubMed

    Kim, Ki-Jo; Lee, Saseong; Kim, Wan-Uk

    2015-03-01

    The complex interaction of molecules within a biological system constitutes a functional module. These modules are then acted upon by both internal and external factors, such as genetic and environmental stresses, which under certain conditions can manifest as complex disease phenotypes. Recent advances in high-throughput biological analyses, in combination with improved computational methods for data enrichment, functional annotation, and network visualization, have enabled a much deeper understanding of the mechanisms underlying important biological processes by identifying functional modules that are temporally and spatially perturbed in the context of disease development. Systems biology approaches such as these have produced compelling observations that would be impossible to replicate using classical methodologies, with greater insights expected as both the technology and methods improve in the coming years. Here, we examine the use of systems biology and network analysis in the study of a wide range of rheumatic diseases to better understand the underlying molecular and clinical features.

  6. Exploring the Association Between Rosacea and Parkinson Disease: A Danish Nationwide Cohort Study.

    PubMed

    Egeberg, Alexander; Hansen, Peter Riis; Gislason, Gunnar H; Thyssen, Jacob P

    2016-05-01

    The pathogenesis of rosacea is unclear, but increased matrix metalloproteinase target tissue activity appears to play an important role. Parkinson disease and other neurodegenerative disorders also display increased matrix metalloproteinase activity that contribute to neuronal loss. To investigate the risk of incident (new-onset) Parkinson disease in patients with rosacea. A nationwide cohort study of the Danish population was conducted using individual-level linkage of administrative registers. All Danish citizens 18 years or older from January 1, 1997, to December 31, 2011 (N = 5 472 745), were included. Data analysis was conducted from June 26 to July 27, 2015. The main outcome was a diagnosis of Parkinson disease. Incidence rates (IRs) per 10 000 person-years were calculated, and incidence rate ratios (IRRs) adjusted for age, sex, socioeconomic status, smoking, alcohol abuse, medication, and comorbidity were estimated by Poisson regression models. A total of 5 404 692 individuals were included in the reference population; of these, 22 387 individuals (9812 [43.8%] women; mean [SD] age at diagnosis, 75.9 [10.2] years) received a diagnosis of Parkinson disease during the study period and 68 053 individuals (45 712 [67.2%] women; mean age, 42.2 [16.5] years) were registered as having rosacea. The IRs of Parkinson disease per 10 000 person-years were 3.54 (95% CI, 3.49-3.59) in the reference population and 7.62 (95% CI, 6.78-8.57) in patients with rosacea. The adjusted IRR of Parkinson disease was 1.71 (95%, CI 1.52-1.92) in patients with rosacea compared with the reference population. There was a 2-fold increased risk of Parkinson disease in patients classified as having ocular rosacea (adjusted IRR, 2.03 [95% CI, 1.67-2.48]), and tetracycline therapy appeared to reduce the risk of Parkinson disease (adjusted IRR, 0.98 [95% CI, 0.97-0.99]). Rosacea constitutes an independent risk factor for Parkinson disease. This association could be due to shared

  7. Identifying strains that contribute to complex diseases through the study of microbial inheritance

    PubMed Central

    Faith, Jeremiah J.; Colombel, Jean-Frédéric; Gordon, Jeffrey I.

    2015-01-01

    It has been 35 y since Carl Woese reported in PNAS how sequencing ribosomal RNA genes could be used to distinguish the three domains of life on Earth. During the past decade, 16S rDNA sequencing has enabled the now frequent enumeration of bacterial communities that populate the bodies of humans representing different ages, cultural traditions, and health states. A challenge going forward is to quantify the contributions of community members to wellness, disease risk, and disease pathogenesis. Here, we explore a theoretical framework for studies of the inheritance of bacterial strains and discuss the advantages and disadvantages of various study designs for assessing the contribution of strains to complex diseases. PMID:25576328

  8. Workplace exposure to passive smoking and risk of cardiovascular disease: summary of epidemiologic studies.

    PubMed Central

    Kawachi, I; Colditz, G A

    1999-01-01

    We reviewed the published epidemiologic studies addressing the relationship between workplace exposure to environmental tobacco smoke (ETS) and cardiovascular disease risk in three case-control studies and three cohort studies. Although the point estimates of risk for cardiovascular disease exceeded 1.0 in five of six studies, none of the relative risks was statistically significant because of the small number of cardiovascular end points occurring in individual studies. In common with most epidemiologic investigations of the health risks of ETS, none of the workplace studies included independent biochemical validation of ETS exposure. In contrast to the evidence on increased cardiovascular disease risk from exposure to spousal ETS, studies of ETS exposure in the workplace are still sparse and inconclusive. Conversely, there is no biologically plausible reason to believe that the hazards of ETS exposure that have been demonstrated in the home should not also apply to the workplace. PMID:10592141

  9. Estimated GFR and incident cardiovascular disease events in American Indians: the Strong Heart Study.

    PubMed

    Shara, Nawar M; Wang, Hong; Mete, Mihriye; Al-Balha, Yaman Rai; Azalddin, Nameer; Lee, Elisa T; Franceschini, Nora; Jolly, Stacey E; Howard, Barbara V; Umans, Jason G

    2012-11-01

    In populations with high prevalences of diabetes and obesity, estimating glomerular filtration rate (GFR) by using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation may predict cardiovascular disease (CVD) risk better than by using the Modification of Diet in Renal Disease (MDRD) Study equation. Longitudinal cohort study comparing the association of GFR estimated using either the CKD-EPI or MDRD Study equation with incident CVD outcomes. American Indians participating in the Strong Heart Study, a longitudinal population-based cohort with high prevalences of diabetes, CVD, and CKD. Estimated GFR (eGFR) predicted using the CKD-EPI and MDRD Study equations. Fatal and nonfatal cardiovascular events, consisting of coronary heart disease, stroke, and heart failure. The association between eGFR and outcomes was explored in Cox proportional hazards models adjusted for traditional risk factors and albuminuria; the net reclassification index and integrated discrimination improvement were determined for the CKD-EPI versus MDRD Study equations. In 4,549 participants, diabetes was present in 45%; CVD, in 7%; and stages 3-5 CKD, in 10%. During a median of 15 years, there were 1,280 cases of incident CVD, 929 cases of incident coronary heart disease, 305 cases of incident stroke, and 381 cases of incident heart failure. Reduced eGFR (<90 mL/min/1.73 m2) was associated with adverse events in most models. Compared with the MDRD Study equation, the CKD-EPI equation correctly reclassified 17.0% of 2,151 participants without incident CVD to a lower risk (higher eGFR) category and 1.3% (n=28) were reclassified incorrectly to a higher risk (lower eGFR) category. Single measurements of eGFR and albuminuria at study visits. Although eGFR based on either equation had similar associations with incident CVD, coronary heart disease, stroke, and heart failure events, in those not having events, reclassification of participants to eGFR categories was superior using the

  10. Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

    PubMed

    Testa, Francesco; Melillo, Paolo; Di Iorio, Valentina; Orrico, Ada; Attanasio, Marcella; Rossi, Settimio; Simonelli, Francesca

    2014-12-01

    To evaluate disease progression in a cohort of patients with a clinical and genetic diagnosis of Stargardt disease. Longitudinal cohort study. A total of 56 selected patients with a clinical and molecular diagnosis of Stargardt disease, an early age of onset, and a median follow-up length of 2 years. Patients underwent routine examination, including full-field electroretinography, microperimetry, and optical coherence tomography. Best-corrected visual acuity (BCVA), mean retinal sensitivity, fixation stability, preferred retinal locus, inner segment/outer segment (IS/OS) junction loss, and atrophic lesion area. A total of 56 patients with a mean age at disease onset of 15.3 years (range, 3-28 years), a mean disease duration of 12.1 years, and a mean age at baseline of 27.4 years were analyzed. The median BCVA was 20/200 in both eyes. Optical coherence tomography parameters (IS/OS alteration and retinal pigment epithelium lesion area) were obtained in only 49 patients because the signal quality was poor in the remaining 7 patients. Optical coherence tomography revealed a mean retinal pigment epithelium lesion area of 2.6 mm(2), preserved foveal IS/OS in 4.1% of patients, loss of foveal IS/OS in 59.2% of patients, and extensive loss of macular IS/OS in 36.7% of patients. Microperimetric findings showed a reduced macular sensitivity (mean, 10 decibels [dB]) and an unstable fixation in half of the patient cohort. The longitudinal analysis showed a significant progressive reduction of BCVA and macular sensitivity (at an estimated rate of 0.04 decimals and 1.19 dB/year, respectively) associated with a significant enlargement of retinal pigment epithelium lesion area (0.282 mm(2)/year). No significant changes in ophthalmoscopic findings and electroretinographic responses were detected. This study highlights the importance of microperimetry and optical coherence tomography in monitoring patients with Stargardt disease. Quantifying the decline of visual functionality and

  11. Patient and Disease Characteristics Associated with Activation for Self-Management in Patients with Diabetes, Chronic Obstructive Pulmonary Disease, Chronic Heart Failure and Chronic Renal Disease: A Cross-Sectional Survey Study

    PubMed Central

    Bos-Touwen, Irene; Schuurmans, Marieke; Monninkhof, Evelyn M.; Korpershoek, Yvonne; Spruit-Bentvelzen, Lotte; Ertugrul-van der Graaf, Inge; de Wit, Niek; Trappenburg, Jaap

    2015-01-01

    A substantial proportion of chronic disease patients do not respond to self-management interventions, which suggests that one size interventions do not fit all, demanding more tailored interventions. To compose more individualized strategies, we aim to increase our understanding of characteristics associated with patient activation for self-management and to evaluate whether these are disease-transcending. A cross-sectional survey study was conducted in primary and secondary care in patients with type-2 Diabetes Mellitus (DM-II), Chronic Obstructive Pulmonary Disease (COPD), Chronic Heart Failure (CHF) and Chronic Renal Disease (CRD). Using multiple linear regression analysis, we analyzed associations between self-management activation (13-item Patient Activation Measure; PAM-13) and a wide range of socio-demographic, clinical, and psychosocial determinants. Furthermore, we assessed whether the associations between the determinants and the PAM were disease-transcending by testing whether disease was an effect modifier. In addition, we identified determinants associated with low activation for self-management using logistic regression analysis. We included 1154 patients (53% response rate); 422 DM-II patients, 290 COPD patients, 223 HF patients and 219 CRD patients. Mean age was 69.6±10.9. Multiple linear regression analysis revealed 9 explanatory determinants of activation for self-management: age, BMI, educational level, financial distress, physical health status, depression, illness perception, social support and underlying disease, explaining a variance of 16.3%. All associations, except for social support, were disease transcending. This study explored factors associated with varying levels of activation for self-management. These results are a first step in supporting clinicians and researchers to identify subpopulations of chronic disease patients less likely to be engaged in self-management. Increased scientific efforts are needed to explain the greater

  12. Longitudinal Study of Gray Matter Changes in Parkinson Disease.

    PubMed

    Jia, X; Liang, P; Li, Y; Shi, L; Wang, D; Li, K

    2015-12-01

    The pathology of Parkinson disease leads to morphological brain volume changes. So far, the progressive gray matter volume change across time specific to patients with Parkinson disease compared controls remains unclear. Our aim was to investigate the pattern of gray matter changes in patients with Parkinson disease and to explore the progressive gray matter volume change specific to patients with Parkinson disease with disease progression by using voxel-based morphometry analysis. Longitudinal cognitive assessment and structural MR imaging of 89 patients with Parkinson disease (62 men) and 55 healthy controls (33 men) were from the Parkinson's Progression Markers Initiative data base, including the initial baseline and 12-month follow-up data. Two-way analysis of covariance was performed with covariates of age, sex, years of education, imaging data from multiple centers, and total intracranial volume by using Diffeomorphic Anatomical Registration Through Exponentiated Lie Algebra tool from SPM8 software. Gray matter volume changes for patients with Parkinson disease were detected with decreased gray matter volume in the frontotemporoparietal areas and the bilateral caudate, with increased gray matter volume in the bilateral limbic/paralimbic areas, medial globus pallidus/putamen, and the right occipital cortex compared with healthy controls. Progressive gray matter volume decrease in the bilateral caudate was found for both patients with Parkinson disease and healthy controls, and this caudate volume was positively associated with cognitive ability for both groups. The progressive gray matter volume increase specific to the patients with Parkinson disease was identified close to the left ventral lateral nucleus of thalamus, and a positive relationship was found between the thalamic volume and the tremor scores in a subgroup with tremor-dominant patients with Parkinson disease. The observed progressive changes in gray matter volume in Parkinson disease may provide

  13. Family clustering of secondary chronic kidney disease with hypertension or diabetes mellitus. A case-control study.

    PubMed

    de Almeida, Fernando Antonio; Ciambelli, Giuliano Serafino; Bertoco, André Luz; Jurado, Marcelo Mai; Siqueira, Guilherme Vasconcelos; Bernardo, Eder Augusto; Pavan, Maria Valeria; Gianini, Reinaldo José

    2015-02-01

    In Brazil hypertension and type 2 diabetes mellitus are responsible for 60% of cases of end-stage renal disease in renal replacement therapy. In the United States studies have identified family clustering of chronic kidney disease, predominantly in African-Americans. A single Brazilian study observed family clustering among patients with chronic kidney disease when compared with hospitalized patients with normal renal function. This article aims to assess whether there is family clustering of chronic kidney disease in relatives of individuals in renal replacement therapy caused by hypertension and/or diabetes mellitus. A case-control study with 336 patients in renal replacement therapy with diabetes mellitus or hypertension for at least 5 years (cases) and a control matched sample group of individuals with hypertension or diabetes mellitus and normal renal function (n = 389). Individuals in renal replacement therapy (cases) had a ratio of 2.35 (95% CI 1.42-3.89, p < 0.001) versus the control group in having relatives with chronic renal disease, irrespective of race or causative illness. There is family clustering of chronic kidney disease in the sample studied, and this predisposition is irrespective of race and underlying disease (hypertension or diabetes mellitus).

  14. Cardiovascular disease in children in Djibouti: a single-centre study

    PubMed Central

    Massoure, Pierre-Laurent; Roche, Nicolas-Charles; Lamblin, Gatien; Dehan, Celine; Kaiser, Eric; Fourcade, Laurent

    2013-01-01

    Introduction Few data are available about pediatric cardiovascular disease (CVD) in the Horn of Africa. The objective of this study was to describe the spectrum of CVD in children in Djibouti. Methods Clinical features and management of Djiboutian children between 1 month-old and 15 year-old with CVD were prospectively recorded over a two-year period in Bouffard Military Hospital in Djibouti (January 2009- December 2010). Results Clinical examination and echocardiography were performed on 156 patients: 32 of them (20%) had CVD. Three (10%) of them had Down's syndrome. The median age was 5 years (male 53%). Congenital heart disease was observed in 27 (84%) patients and dilated cardiomyopathy (DCM) in 5 (16%) patients including 2 patients with rheumatic valvular disease. Ventricular septal defect was frequent (28%). Other abnormalities were atrial septal defect (13%), Tetralogy of Fallot (9%), pulmonary stenosis (6%) and 3 other patients had multiple congenital anomalies condition. Surgical management was required in 22 (69%) patients and was performed on 15 (47%) cases. During follow up (mean 11.3 ± 6.8 months), 5 (16%) patients died. Absence of surgery was associated with significant mortality (p > 0.05) but age, sex and mean follow up were not. Conclusion Pediatric CVD is at least as common in this Djiboutian community as in other African cohorts. The absence of surgery was a major mortality risk factor. DCM was frequent in this study. Much work remains to be done to discover the size and nature of genetic and environmental contributions to these various forms of heart diseases in the Horn of Africa. PMID:23785546

  15. Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

    PubMed

    Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

    2018-02-01

    Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P < .0001) or intrauterine growth retardation group (50.0% vs 14.3%, P = .044) was significantly higher than that in isolated congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P < .0001). No significant difference was observed in the detection rates between congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild

  16. Outdoor air pollution and cardiovascular diseases in Lebanon: a case-control study.

    PubMed

    Nasser, Zeina; Salameh, Pascale; Dakik, Habib; Elias, Elias; Abou Abbas, Linda; Levêque, Alain

    2015-01-01

    Outdoor air pollution is increasingly considered as a serious threat for cardiovascular diseases (CVD). The aim of this study is to investigate the association between outdoor pollutants and cardiovascular diseases among adults in Lebanon and to examine the possible moderator effect of cigarette smoking status on this association. A multicenter case-control study was conducted between October 2011 and October 2012. Cases were hospitalized patients diagnosed with CVD by a cardiologist while the control group subjects were free of any cardiac diseases. Information on sociodemographic characteristics, tobacco consumption, self-rated global health, pollution exposure, and other risk factors was collected using a questionnaire. The results of the logistic regression revealed that living near busy highway (OR 5.04, 95% CI (4.44-12.85), P < 0.001) and close to local diesel generator (OR 4.76, 95% CI (2.07-10.91), P < 0.001) was significantly associated with CVD. The association between the CVD and exposure to outside pollutants differed by cigarette smoking status. A clear difference was noted between nonsmokers and current smokers OR 4.6, 95% CI (1.10-19.25) and OR 10.11, 95% CI (7.33-20.23), respectively. Forthcoming studies are needed to clarify the potential link between outdoor air pollution and cardiovascular diseases in Lebanon. Public health interventions must be implemented to reduce air pollution and to improve air quality.

  17. Chagas disease study using satellite image processing: A Bolivian case

    NASA Astrophysics Data System (ADS)

    Vargas-Cuentas, Natalia I.; Roman-Gonzalez, Avid; Mantari, Alicia Alva; Muñoz, Luis AnthonyAucapuma

    2018-03-01

    Remote sensing is the technology that has enabled us to obtain information about the Earth's surface without directly contacting it. For this reason, currently, the Bolivian state has considered a list of interesting applications of remote sensing in the country, including the following: biodiversity and environment monitoring, mining and geology, epidemiology, agriculture, water resources and land use planning. The use of satellite images has become a great tool for epidemiology because with this technological advance we can determine the environment in which transmission occurs, the distribution of the disease and its evolution over time. In that context, one of the important diseases related to public health in Bolivia is Chagas disease, also known as South American Trypanosomiasis. Chagas is caused by a blood-sucking bug or Vinchuca, which causes serious intestinal and heart long term problems and affects 33.4% of the Bolivian population. This disease affects mostly humble people, so the Bolivian state invests millions of dollars to acquire medicine and distribute it for free. Due to the above reasons, the present research aims to analyze some areas of Bolivia using satellite images for developing an epidemiology study. The primary objective is to understand the environment in which the transmission of the disease happens, and the climatic conditions under which occurs, observe the behavior of the blood-sucking bug, identify in which months occur higher outbreaks, in which months the bug leaves its eggs, and under which weather conditions this happens. All this information would be contrasted with information extracted from the satellite images and data from the Ministry of Health, and the Institute of Meteorology in Bolivia. All this data will allow us to have a more integrated understanding of this disease and promote new possibilities to prevent and control it.

  18. Novel Methods in Disease Biogeography: A Case Study with Heterosporosis

    PubMed Central

    Escobar, Luis E.; Qiao, Huijie; Lee, Christine; Phelps, Nicholas B. D.

    2017-01-01

    Disease biogeography is currently a promising field to complement epidemiology, and ecological niche modeling theory and methods are a key component. Therefore, applying the concepts and tools from ecological niche modeling to disease biogeography and epidemiology will provide biologically sound and analytically robust descriptive and predictive analyses of disease distributions. As a case study, we explored the ecologically important fish disease Heterosporosis, a relatively poorly understood disease caused by the intracellular microsporidian parasite Heterosporis sutherlandae. We explored two novel ecological niche modeling methods, the minimum-volume ellipsoid (MVE) and the Marble algorithm, which were used to reconstruct the fundamental and the realized ecological niche of H. sutherlandae, respectively. Additionally, we assessed how the management of occurrence reports can impact the output of the models. Ecological niche models were able to reconstruct a proxy of the fundamental and realized niche for this aquatic parasite, identifying specific areas suitable for Heterosporosis. We found that the conceptual and methodological advances in ecological niche modeling provide accessible tools to update the current practices of spatial epidemiology. However, careful data curation and a detailed understanding of the algorithm employed are critical for a clear definition of the assumptions implicit in the modeling process and to ensure biologically sound forecasts. In this paper, we show how sensitive MVE is to the input data, while Marble algorithm may provide detailed forecasts with a minimum of parameters. We showed that exploring algorithms of different natures such as environmental clusters, climatic envelopes, and logistic regressions (e.g., Marble, MVE, and Maxent) provide different scenarios of potential distribution. Thus, no single algorithm should be used for disease mapping. Instead, different algorithms should be employed for a more informed and complete

  19. Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.

    PubMed

    Cavero-Carbonell, Clara; Gras-Colomer, Elena; Guaita-Calatrava, Rosana; López-Briones, Carmen; Amorós, Rubén; Abaitua, Ignacio; Posada, Manuel; Zurriaga, Oscar

    2016-06-01

    Patient registries (PRs) are important tools for public-health surveillance and rare-disease research. The purpose of this study is to identify the most important criteria for the creation of a rare-disease PR that could be used by public-health authorities to develop health policies. A consensus-development Delphi study was used, with participants selected for their expertize in rare diseases and registries. Participants were asked to complete a questionnaire on the most important criteria for creating PRs. Three rounds were performed. Agreement was reached on half the questions in the first round and on 89% of questions in the final round, with a total expert participation rate of around 60% by the final stage. This study made it possible to reach a broader consensus starting from experts' initial assessment of the features that should be considered for the creation of a rare-disease PR. The consensus method used made it possible to define the characteristics of a PR based on expert opinion within a rare-disease framework. This study may serve as a guide for helping other researchers plan and build a rare-disease PR. © The Author 2015. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  20. Inflammatory bowel disease versus irritable bowel syndrome: a hospital-based, case-control study of disease impact on quality of life.

    PubMed

    Pace, F; Molteni, P; Bollani, S; Sarzi-Puttini, P; Stockbrügger, R; Bianchi Porro, G; Drossman, D A

    2003-10-01

    Inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS) are intestinal diseases perceived differently by patients and doctors: the former is considered essentially as an 'organic' disease (i.e. an illness in which the role of stress or psychological factors is at best secondary to the disease itself), whereas the latter is acknowledged as a 'functional' disorder (i.e. illness thought to be more in the 'mind' than in the body of the patient). Accordingly, the respective impact of the two diseases on patients' health-related quality of life (HRQOL) is perceived to be very different. We aimed to compare the relative impact of the disease on HRQOL, psychological profile and perceived burden of stressful life events in two groups of outpatients suffering from IBS and IBD and attending our outpatient department at an Italian university hospital. Eighty patients with IBD (26 with ulcerative colitis and 54 with Crohn disease) and 85 controls with IBS formed the patient samples of the study. Three questionnaires were given to the patients while they were attending the outpatient department because of their previously diagnosed disease, namely the SF-36 (a generic well-validated tool for measuring HRQOL), the SCL-90 (for assessing the psychological profile of patients), and the Holmes & Rahe schedule (for the assessment of stressful life experiences). The results were then compared by means of analysis of variance (ANOVA) and Bonferroni-adjusted t test, when appropriate. HRQOL appeared to be similarly reduced in both disease groups (SF-36 overall mean value: 58.2 +/- 16.1 in IBS patients versus 56.4 +/- 22.3 in IBD patients: P > 0.05) in comparison with normative Italian data. Furthermore, the overall severity of psychological symptoms was not statistically different between patients suffering from IBD versus IBS, as shown by SCL-90 mean scores of 0.89 + 0.45 versus 0.83 +/- 0.48, respectively (P > 0.05). On the contrary, the severity of recent stressful life

  1. Association between Low to Moderate Arsenic Exposure and Incident Cardiovascular Disease. A Prospective Cohort Study

    PubMed Central

    Moon, Katherine A.; Guallar, Eliseo; Umans, Jason G.; Devereux, Richard B.; Best, Lyle G.; Francesconi, Kevin A.; Goessler, Walter; Pollak, Jonathan; Silbergeld, Ellen K.; Howard, Barbara V.; Navas-Acien, Ana

    2014-01-01

    Background Inorganic arsenic exposure in water and food is a global public health problem. Chronic exposure to high levels of arsenicis consistently associated with increased risk of cardiovascular disease, whereas prospective data on low to moderate chronic arsenic exposure (<100μg/L in drinking water) are lacking. Objective To evaluate the association between chronic low to moderate arsenic exposure and incident cardiovascular disease. Design Prospective cohort study. Setting The Strong Heart Study baseline visit in 1989-1991, with follow-up through 2008. Patients 3,575 American Indian men and women aged 45-74 years living in Arizona, Oklahoma, and North and South Dakota. Measurements The sum of inorganic and methylated arsenic species in urine at baseline was used as a biomarker of chronic arsenic exposure. Participants were followed for incident fatal and non-fatal cardiovascular disease, including coronary heart disease and stroke. Results 1,184 participants developed fatal and non-fatal cardiovascular disease and 439 participants developed fatal cardiovascular disease. Comparing the highest to lowest quartile arsenic concentrations (>15.7 vs. <5.8 μg/g creatinine), the hazard ratios (95% confidence interval) for cardiovascular disease, coronary heart disease, and stroke mortality after adjustment for socio-demographic factors, smoking, body mass index, and lipids were 1.65 (1.20, 2.27; p-trend<0.001), 1.71 (1.19, 2.44; p-trend<0.001) and 3.03 (1.08, 8.50; p-trend=0.061), respectively. The corresponding hazard ratios for incident cardiovascular disease, coronary heart disease, and stroke were 1.32 (1.09, 1.59; p-trend=0.002), 1.30 (1.04, 1.62; p-trend=0.006), and 1.47 (0.97, 2.21; p-trend=0.032), respectively. These associations varied by study region and were attenuated following further adjustment for diabetes, hypertension, and measures of kidney disease. Limitations Direct measurement of individual arsenic in drinking water was unavailable. Residual

  2. Advances in the Studies of Ginkgo Biloba Leaves Extract on Aging-Related Diseases

    PubMed Central

    Zuo, Wei; Yan, Feng; Zhang, Bo; Li, Jiantao; Mei, Dan

    2017-01-01

    The prevalence of degenerative disorders in public health has promoted in-depth investigations of the underlying pathogenesis and the development of new treatment drugs. Ginkgo biloba leaves extract (EGb) is obtained from Ginkgo biloba leaves and has been used for thousands of years. In recent decades, both basic and clinical studies have established the effects of EGb. It is widely used in various degenerative diseases such as cerebrovascular disease, Alzheimer’s disease, macroangiopathy and more. Here, we reviewed several pharmacological mechanisms of EGb, including its antioxidant properties, prevention of mitochondrial dysfunctions, and effect on apoptosis. We also described some clinical applications of EGb, such as its effect on neuro and cardiovascular protection, and anticancer properties. The above biological functions of EGb are mainly focused on aging-related disorders, but its effect on other diseases remains unclear. Thus, through this review, we aim to encourage further studies on EGb and discover more potential applications PMID:29344418

  3. Fatal cerebral mycoses caused by the ascomycete Chaetomium strumarium.

    PubMed

    Abbott, S P; Sigler, L; McAleer, R; McGough, D A; Rinaldi, M G; Mizell, G

    1995-10-01

    Three cases of fatal cerebral mycosis in males with prior histories of intravenous drug use from the United States and Australia are reported. Infection in each case was limited to brain abscess; no other sites of infection were observed. The fungus seen by histopathology and isolated from the brain tissue in each case was identified as Chaetomium strumarium. This is the first report of human infection by this species, and C. strumarium is the second species of Chaetomium known to cause primary brain infection. Chaetomium strumarium is unusual among members of the genus Chaetomium in forming ascocarps covered with pale, thin-walled, flexuous hairs, a feature leading to its original placement in the genus Achaetomium. Presence of pinkish exudate droplets and/or crystals associated with hyphae or ascocarps, sometimes accompanied by a pinkish diffusible pigment; good growth at 42 degrees C; and production of small conidia further distinguish this species. The brain abscess isolates were compared with isolates from prior cases of cerebral infection which had been identified as either Chaetomium atrobrunneum or Chaetomium globosum. With reidentification of one isolate originally identified as C. globosum to C. atrobrunneum, only C. strumarium and C. atrobrunneum have been confirmed to cause infection involving the brain.

  4. Fatal cerebral mycoses caused by the ascomycete Chaetomium strumarium.

    PubMed Central

    Abbott, S P; Sigler, L; McAleer, R; McGough, D A; Rinaldi, M G; Mizell, G

    1995-01-01

    Three cases of fatal cerebral mycosis in males with prior histories of intravenous drug use from the United States and Australia are reported. Infection in each case was limited to brain abscess; no other sites of infection were observed. The fungus seen by histopathology and isolated from the brain tissue in each case was identified as Chaetomium strumarium. This is the first report of human infection by this species, and C. strumarium is the second species of Chaetomium known to cause primary brain infection. Chaetomium strumarium is unusual among members of the genus Chaetomium in forming ascocarps covered with pale, thin-walled, flexuous hairs, a feature leading to its original placement in the genus Achaetomium. Presence of pinkish exudate droplets and/or crystals associated with hyphae or ascocarps, sometimes accompanied by a pinkish diffusible pigment; good growth at 42 degrees C; and production of small conidia further distinguish this species. The brain abscess isolates were compared with isolates from prior cases of cerebral infection which had been identified as either Chaetomium atrobrunneum or Chaetomium globosum. With reidentification of one isolate originally identified as C. globosum to C. atrobrunneum, only C. strumarium and C. atrobrunneum have been confirmed to cause infection involving the brain. PMID:8567907

  5. Genome-wide association studies in Alzheimer's disease.

    PubMed

    Bertram, Lars; Tanzi, Rudolph E

    2009-10-15

    Genome-wide association studies (GWAS) have gained considerable momentum over the last couple of years for the identification of novel complex disease genes. In the field of Alzheimer's disease (AD), there are currently eight published and two provisionally reported GWAS, highlighting over two dozen novel potential susceptibility loci beyond the well-established APOE association. On the basis of the data available at the time of this writing, the most compelling novel GWAS signal has been observed in GAB2 (GRB2-associated binding protein 2), followed by less consistently replicated signals in galanin-like peptide (GALP), piggyBac transposable element derived 1 (PGBD1), tyrosine kinase, non-receptor 1 (TNK1). Furthermore, consistent replication has been recently announced for CLU (clusterin, also known as apolipoprotein J). Finally, there are at least three replicated loci in hitherto uncharacterized genomic intervals on chromosomes 14q32.13, 14q31.2 and 6q24.1 likely implicating the existence of novel AD genes in these regions. In this review, we will discuss the characteristics and potential relevance to pathogenesis of the outcomes of all currently available GWAS in AD. A particular emphasis will be laid on findings with independent data in favor of the original association.

  6. Meta-analysis of few small studies in orphan diseases.

    PubMed

    Friede, Tim; Röver, Christian; Wandel, Simon; Neuenschwander, Beat

    2017-03-01

    Meta-analyses in orphan diseases and small populations generally face particular problems, including small numbers of studies, small study sizes and heterogeneity of results. However, the heterogeneity is difficult to estimate if only very few studies are included. Motivated by a systematic review in immunosuppression following liver transplantation in children, we investigate the properties of a range of commonly used frequentist and Bayesian procedures in simulation studies. Furthermore, the consequences for interval estimation of the common treatment effect in random-effects meta-analysis are assessed. The Bayesian credibility intervals using weakly informative priors for the between-trial heterogeneity exhibited coverage probabilities in excess of the nominal level for a range of scenarios considered. However, they tended to be shorter than those obtained by the Knapp-Hartung method, which were also conservative. In contrast, methods based on normal quantiles exhibited coverages well below the nominal levels in many scenarios. With very few studies, the performance of the Bayesian credibility intervals is of course sensitive to the specification of the prior for the between-trial heterogeneity. In conclusion, the use of weakly informative priors as exemplified by half-normal priors (with a scale of 0.5 or 1.0) for log odds ratios is recommended for applications in rare diseases. © 2016 The Authors. Research Synthesis Methods published by John Wiley & Sons Ltd. © 2016 The Authors. Research Synthesis Methods published by John Wiley & Sons Ltd.

  7. [Risk factors for ischemic heart disease in Mexico: a case control study].

    PubMed

    Camacho-Hernández, R; Corona-Muñiz, I; Vázquez-Martínez, J L; Martínez-Rodríguez, F; Escobedo-de la Peña, J

    1995-01-01

    A case control study was developed in order to assess the strength of the association of modifiable risk factors and the occurrence of coronary heart disease in Mexicans. A total of 284 incident cases of acute myocardial infarction and 284 age and sex matched hospitalized controls were included in the study. Information was obtained in all subjects regarding socio-demographic variables, history of diabetes, hypertension, smoking, obesity and serum cholesterol. A conditional logistic regression model, showed that diabetes mellitus, hypertension, smoking, hypercholesterolemia and obesity, explained the occurrence of coronary heart disease in the studied population. The risk of an acute myocardial infarction heavily increases in the extreme levels of exposure; and this risk is six fold higher in those who daily smoke more than 20 cigarettes, and it is eight fold higher in those subjects with a serum cholesterol greater than 240 mg/dl. Due to the increase in the occurrence of coronary heart disease in Mexico, and the strength of the association observed with these modifiable risk factors, a public health program to decrease its prevalence, is justified.

  8. The mPower study, Parkinson disease mobile data collected using ResearchKit.

    PubMed

    Bot, Brian M; Suver, Christine; Neto, Elias Chaibub; Kellen, Michael; Klein, Arno; Bare, Christopher; Doerr, Megan; Pratap, Abhishek; Wilbanks, John; Dorsey, E Ray; Friend, Stephen H; Trister, Andrew D

    2016-03-03

    Current measures of health and disease are often insensitive, episodic, and subjective. Further, these measures generally are not designed to provide meaningful feedback to individuals. The impact of high-resolution activity data collected from mobile phones is only beginning to be explored. Here we present data from mPower, a clinical observational study about Parkinson disease conducted purely through an iPhone app interface. The study interrogated aspects of this movement disorder through surveys and frequent sensor-based recordings from participants with and without Parkinson disease. Benefitting from large enrollment and repeated measurements on many individuals, these data may help establish baseline variability of real-world activity measurement collected via mobile phones, and ultimately may lead to quantification of the ebbs-and-flows of Parkinson symptoms. App source code for these data collection modules are available through an open source license for use in studies of other conditions. We hope that releasing data contributed by engaged research participants will seed a new community of analysts working collaboratively on understanding mobile health data to advance human health.

  9. Incidence of new-onset autoimmune disease in girls and women with pre-existing autoimmune disease after quadrivalent human papillomavirus vaccination: a cohort study.

    PubMed

    Grönlund, O; Herweijer, E; Sundström, K; Arnheim-Dahlström, L

    2016-12-01

    To assess whether quadrivalent human papillomavirus (qHPV) vaccination is associated with increased incidence of new-onset autoimmune disease in girls and women with pre-existing autoimmune disease. This register-based open cohort study included all girls and women between 10 and 30 years of age in Sweden in 2006-2012 diagnosed with at least one of 49 prespecified autoimmune diseases (n = 70 265). Incidence rate ratios were estimated for new-onset autoimmune disease within 180 days of qHPV vaccination using Poisson regression adjusting for, country of birth, parental country of birth, parental income and parental education. A total of 70 265 girls and women had at least one of the 49 predefined autoimmune diseases; 16% of these individuals received at least one dose of qHPV vaccine. In unvaccinated girls and women, 5428 new-onset autoimmune diseases were observed during 245 807 person-years at a rate of 22.1 (95% CI 21.5-22.7) new events per 1000 person-years. In vaccinated girls and women, there were 124 new events during 7848 person-years at a rate of 15.8 (95% CI 13.2-18.8) per 1000 person-years. There was no increase in the incidence of new-onset autoimmune disease associated with qHPV vaccination during the risk period; on the contrary, we found a slightly reduced risk (incidence rate ratio 0.77, 95% CI 0.65-0.93). In this nationwide study, qHPV vaccination was not associated with increased incidence of new-onset autoimmune disease in girls and women with pre-existing autoimmune disease. © 2016 The Association for the Publication of the Journal of Internal Medicine.

  10. Lyme Disease and YouTube TM: A Cross-Sectional Study of Video Contents.

    PubMed

    Basch, Corey H; Mullican, Lindsay A; Boone, Kwanza D; Yin, Jingjing; Berdnik, Alyssa; Eremeeva, Marina E; Fung, Isaac Chun-Hai

    2017-08-01

    Lyme disease is the most common tick-borne disease. People seek health information on Lyme disease from YouTube TM videos. In this study, we investigated if the contents of Lyme disease-related YouTube TM videos varied by their sources. Most viewed English YouTube TM videos (n = 100) were identified and manually coded for contents and sources. Within the sample, 40 videos were consumer-generated, 31 were internet-based news, 16 were professional, and 13 were TV news. Compared with consumer-generated videos, TV news videos were more likely to mention celebrities (odds ratio [OR], 10.57; 95% confidence interval [CI], 2.13-52.58), prevention of Lyme disease through wearing protective clothing (OR, 5.63; 95% CI, 1.23-25.76), and spraying insecticides (OR, 7.71; 95% CI, 1.52-39.05). A majority of the most popular Lyme disease-related YouTube TM videos were not created by public health professionals. Responsible reporting and creative video-making facilitate Lyme disease education. Partnership with YouTube TM celebrities to co-develop educational videos may be a future direction.

  11. Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity.

    PubMed

    van den Bergen, J C; Wokke, B H A; Hulsker, M A; Verschuuren, J J G M; Aartsma-Rus, A M

    2015-03-01

    Becker muscular dystrophy is characterized by a variable disease course. Many factors have been implicated to contribute to this diversity, among which the expression of several components of the dystrophin associated glycoprotein complex. Together with dystrophin, most of these proteins anchor the muscle fiber cytoskeleton to the extracellular matrix, thus protecting the muscle from contraction induced injury, while nNOS is primarily involved in inducing vasodilation during muscle contraction, enabling adequate muscle oxygenation. In the current study, we investigated the role of three components of the dystrophin associated glycoprotein complex (beta-dystroglycan, gamma-sarcoglycan and nNOS) and the dystrophin homologue utrophin on disease severity in Becker patients. Strength measurements, data about disease course and fresh muscle biopsies of the anterior tibial muscle were obtained from 24 Becker patients aged 19 to 66. The designation of Becker muscular dystrophy in this study was based on the mutation and not on the clinical severity. Contrary to previous studies, we were unable to find a relationship between expression of nNOS, beta-dystroglycan and gamma-sarcoglycan at the sarcolemma and disease severity, as measured by muscle strength in five muscle groups and age at reaching several disease milestones. Unexpectedly, we found an inverse correlation between utrophin expression at the sarcolemma and age at reaching disease milestones. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Disease outcome of inflammatory bowel disease patients: general outline of a Europe-wide population-based 10-year clinical follow-up study.

    PubMed

    Wolters, Frank L; Russel, Maurice G; Sijbrandij, Jildou; Schouten, Leo J; Odes, Selwyn; Riis, Lene; Munkholm, Pia; Langholz, Ebbe; Bodini, Paolo; O'Morain, Colm; Katsanos, Kostas; Tsianos, Epameinondas; Vermeire, Severine; Van Zeijl, Gilbert; Limonard, Charles; Hoie, Ole; Vatn, Morten; Moum, Bjørn; Stockbrügger, Reinhold W

    2006-01-01

    To give a general outline of a 10-year clinical follow-up study of a population-based European cohort of inflammatory bowel disease (IBD) patients and to present the first results in terms of clinical outcome parameters and risk factors. A population-based cohort of newly, prospectively, diagnosed cases was initiated between 1991 and 1993. The 2201 patients with IBD (706 had Crohn's disease (CD), 1379 had ulcerative colitis (UC) and 116 had indeterminate colitis) originated from 20 different areas in 11 different European countries and Israel. For the 10-year follow-up of this cohort, electronic data-collecting instruments were made available through an Internet-based website. Data concerning vital status, disease activity, medication use, surgical events, cancer, pregnancy, fertility, quality of life and health-care costs were gathered. A blood sample was obtained from patients and controls to perform genotypic characterization. Thirteen centres from eight European countries and Israel participated. In 958 (316 CD and 642 UC) out of a total of 1505 IBD patients (64%) from these 13 centres, a complete dataset was obtained at follow-up. Even though an increased mortality risk was observed in CD patients 10 years after diagnosis, a benign disease course was observed in this patient group in terms of disease recurrence. A correlation between ASCA and CARD15 variants in CD patients and complicated disease course was observed. A north-south gradient was observed regarding colectomy rates in UC patients. Direct costs were found to be highest in the first year after diagnosis and greater in CD patients than in UC patients, with marked differences between participating countries. This 10-year clinical follow-up study of a population-based European cohort of IBD patients provides updated information on disease outcome of these patient groups.

  13. Vascular biomarkers to predict response to exercise in Alzheimer's disease: the study protocol.

    PubMed

    Li, Danni; Thomas, Robin; Tsai, Michael Y; Li, Ling; Vock, David M; Greimel, Susan; Yu, Fang

    2016-12-30

    Exercise interventions are a promising treatment for improving cognition in persons with Alzheimer's disease. This is similar to Alzheimer's disease pharmacotherapies in which only 18-48% of treated patients demonstrate improvement in cognition. Aerobic exercise interventions positively affect brain structure and function through biologically sound pathways. However, an under-studied mechanism of aerobic exercise's effects is n-3 fatty acids in plasma. The objective of this pilot study is to inform a future large-scale study to develop n-3 fatty acids-based prediction of cognitive responses to aerobic exercise treatment in Alzheimer's disease. This study will recruit and follow a cohort of 25 subjects enrolled in the FIT-AD Trial, an ongoing randomised controlled trial that investigates the effects of a 6-month moderate-intensity cycling intervention on cognition and hippocampal volume in older adults with mild to moderate Alzheimer's disease over a year. This study will collect blood from subjects at baseline and at 3 and 6 months to assay vascular biomarkers (ie, plasma fatty acids). Global cognition as measured by the Alzheimer's Disease Assessment Scale-Cognition (ADAS-Cog) at baseline, 3, 6, 9 and 12 months will be used as the main outcome. A multiple linear-regression model will be used with 12-month change in cognition as the outcome and baseline measure of n-3 fatty acids or changes in the ratio of n-3 to n-6 fatty-acid levels in plasma at 3 and/or 6 months, randomised treatment group, and their interaction as predictors. We have obtained Institutional Review Board approval for our study. We obtain consent or assent/surrogate consent from all subjects depending on their consenting capacity assessment. Data of this study are/will be stored in the Research Electronic Data Capture (REDCap). We plan to present and publish our study findings through presentations and manuscripts. NCT01954550. Published by the BMJ Publishing Group Limited. For permission to

  14. Low clinical diagnostic accuracy of early vs advanced Parkinson disease: clinicopathologic study.

    PubMed

    Adler, Charles H; Beach, Thomas G; Hentz, Joseph G; Shill, Holly A; Caviness, John N; Driver-Dunckley, Erika; Sabbagh, Marwan N; Sue, Lucia I; Jacobson, Sandra A; Belden, Christine M; Dugger, Brittany N

    2014-07-29

    Determine diagnostic accuracy of a clinical diagnosis of Parkinson disease (PD) using neuropathologic diagnosis as the gold standard. Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to determine the predictive value of a clinical PD diagnosis, using 2 clinical diagnostic confidence levels, PossPD (never treated or not clearly responsive) and ProbPD (responsive to medications). Neuropathologic diagnosis was the gold standard. Based on first visit, 9 of 34 (26%) PossPD cases had neuropathologically confirmed PD while 80 of 97 (82%) ProbPD cases had confirmed PD. PD was confirmed in 8 of 15 (53%) ProbPD cases with <5 years of disease duration and 72 of 82 (88%) with ≥5 years of disease duration. Using final diagnosis at time of death, 91 of 107 (85%) ProbPD cases had confirmed PD. Clinical variables that improved diagnostic accuracy were medication response, motor fluctuations, dyskinesias, and hyposmia. Using neuropathologic findings of PD as the gold standard, this study establishes the novel findings of only 26% accuracy for a clinical diagnosis of PD in untreated or not clearly responsive subjects, 53% accuracy in early PD responsive to medication (<5 years' duration), and >85% diagnostic accuracy of longer duration, medication-responsive PD. Caution is needed when interpreting clinical studies of PD, especially studies of early disease that do not have autopsy confirmation. The need for a tissue or other diagnostic biomarker is reinforced. This study provides Class II evidence that a clinical diagnosis of PD identifies patients who will have pathologically confirmed PD with a sensitivity of 88% and specificity of 68%. © 2014 American Academy of Neurology.

  15. Determining the disease management process for epileptic patients: A qualitative study

    PubMed Central

    Hosseini, Nazafarin; Sharif, Farkhondeh; Ahmadi, Fazlollah; Zare, Mohammad

    2016-01-01

    Background: Epilepsy exposes patients to many physical, social, and emotional challenges. Thus, it seems to portray a complex picture and needs holistic care. Medical treatment and psychosocial part of epilepsy remain central to managing and improving the patient's qualify of life through team efforts. Some studies have shown the dimensions of self-management, but its management process of epilepsy patients, especially in Iran, is not clear. This study aimed to determine the disease management process in patients with epilepsy in Iran. Materials and Methods: This qualitative approach and grounded theory study was conducted from January 2009 to February 2012 in Isfahan city (Iran). Thirty-two participants were recruited by the goal-oriented, and snowball sample selection and theoretical sampling methods. After conducting a total of 43 in-depth interviews with the participants, the researchers reached data saturation. Data were analyzed using Strauss and Corbin method. Results: With a focus on disease management process, researchers found three main themes and seven sub-themes as a psychosocial process (PSP). The main themes were: perception of threat to self-identity, effort to preserve self-identity, and burn out. The psychosocial aspect of the disease generated one main variable “the perception of identity loss” and one central variable “searching for self-identity.” Conclusions: Participants attributed threat to self-identity and burn out to the way their disease was managed requiring efforts to preserve their identity. Recommendations consist of support programs and strategies to improve the public perception of epilepsy in Iran, help patients accept their condition and preserve self-identity, and most importantly, enhance medical management of epilepsy. PMID:26985223

  16. Comorbidity in patients with chronic obstructive pulmonary disease in family practice: a cross sectional study.

    PubMed

    García-Olmos, Luis; Alberquilla, Angel; Ayala, Victoria; García-Sagredo, Pilar; Morales, Leticia; Carmona, Montserrat; de Tena-Dávila, María José; Pascual, Mario; Muñoz, Adolfo; Salvador, Carlos H; Monteagudo, Jose L

    2013-01-16

    Chronic obstructive pulmonary disease (COPD) is frequent and often coexists with other diseases. The aim of this study was to quantify the prevalence of COPD and related chronic comorbidity among patients aged over 40 years visiting family practices in an area of Madrid. An observational, descriptive, cross-sectional study was conducted in a health area of the Madrid Autonomous Region (Comunidad Autónoma de Madrid). The practice population totalled 198,670 persons attended by 129 Family Physicians (FPs), and the study population was made up of persons over the age of 40 years drawn from this practice population. Patients were deemed to have COPD if this diagnosis appeared on their clinical histories. Prevalence of COPD; prevalence of a further 25 chronic diseases in patients with COPD; and standardised prevalence ratios, were calculated. Prevalence of COPD in family medicine was 3.2% (95% CI 3.0-3.3) overall, 5.3% among men and 1.4% among women; 90% of patients presented with comorbidity, with a mean of 4 ± 2.04 chronic diseases per patient, with the most prevalent related diseases being arterial hypertension (52%), disorders of lipid metabolism (34%), obesity (25%), diabetes (20%) and arrhythmia (15%). After controlling for age and sex, the observed prevalence of the following ten chronic diseases was higher than expected: heart failure; chronic liver disease; asthma; generalised artherosclerosis; osteoporosis; ischaemic heart disease; thyroid disease; anxiety/depression; arrhythmia; and obesity. Patients with COPD, who are frequent in family practice, have a complex profile and pose a clinical and organisational challenge to FPs.

  17. Oral health and later coronary heart disease: Cohort study of one million people.

    PubMed

    Batty, G David; Jung, Keum Ji; Mok, Yejin; Lee, Sun Ju; Back, Joung Hwan; Lee, Sunmi; Jee, Sun Ha

    2018-04-01

    Aims Systematic reviews report an association between poorer oral health and an increased risk of coronary heart disease. This contentious relationship may not be causal but existing studies have been insufficiently well powered comprehensively to examine the role of confounding, particularly by cigarette smoking. Accordingly, we sought to examine the role of smoking in generating the relationship between oral health and coronary heart disease in life-long non-smokers. Methods and results In the Korean Cancer Prevention Study, 975,685 individuals (349,579 women) aged 30-95 years had an oral examination when tooth loss, a widely used indicator of oral health, was ascertained. Linkage to national mortality and hospital registers over 21 years of follow-up gave rise to 64,784 coronary heart disease events (19,502 in women). In the whole cohort, after statistical adjustment for age, there was a moderate, positive association between tooth loss and coronary heart disease in both men (hazard ratio for seven or more missing teeth vs. none; 95% confidence interval 1.08; 1.02, 1.14; P trend across tooth loss groups <0.0001) and women (1.09; 1.01, 1.18; P trend 0.0016). Restricting analyses to a subgroup of 464,145 never smokers (25,765 coronary heart disease events), however, resulted in an elimination of this association in men (1.01; 0.85, 1.19); P trend 0.7506) but not women (1.08; 0.99, 1.18; P trend 0.0086). Conclusion In men in the present study, the relationship between poor oral health and coronary heart disease risk appeared to be explained by confounding by cigarette smoking so raising questions about a causal link.

  18. Seasonal temperature is associated with Parkinson's disease prescriptions: an ecological study

    NASA Astrophysics Data System (ADS)

    Rowell, David; Nghiem, Son; Ramagopalan, Sreeram; Meier, Ute-Christiane

    2017-12-01

    The aim of this study is to test what effect the weather may have on medications prescribed to treat Parkinson's disease. Twenty-three years of monthly time, series data was sourced from the Pharmaceutical Benefits Scheme (PBS) and the Bureau of Meteorology (BOM). Data were available for eight states and territories and their corresponding capital cities. The dependent variable was the aggregate levodopa equivalent dose (LED) for 51 Parkinson's medications identified on the PBS. Two explanatory variables of interest, temperature and solar exposure, were identified in the BOM data set. Linear and cosinor models were estimated with fixed and random effects, respectively. The prescribed LED was 4.2% greater in January and 4.5% lower in July. Statistical analysis showed that temperature was associated with the prescription of Parkinson medications. Our results suggest seasonality exists in Parkinson's disease symptoms and this may be related to temperature. Further work is needed to confirm these findings and understand the underlying mechanisms as a better understanding of the causes of any seasonal variation in Parkinson's disease may help clinicians and patients manage the disease more effectively.

  19. A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study.

    PubMed

    Mentzakis, Emmanouil; Stefanowska, Patricia; Hurley, Jeremiah

    2011-07-01

    Policy debate about funding criteria for drugs used to treat rare, orphan diseases is gaining prominence. This study presents evidence from a discrete choice experiment using a convenience sample of university students to investigate individual preferences regarding public funding for drugs used to treat rare diseases and common diseases. This pilot study finds that: other things equal, the respondents do not prefer to have the government spend more for drugs used to treat rare diseases; that respondents are not willing to pay more per life year gained for a rare disease than a common disease; and that respondents weigh relevant attributes of the coverage decisions (e.g. costs, disease severity and treatment effectiveness) similarly for both rare and common diseases. The results confirm the importance of severity and treatment effectiveness in preferences for public funding. Although this is the first study of its kind, the results send a cautionary message regarding the special treatment of orphan drugs in coverage decision-making.

  20. Descriptive study of relationship between cardio-ankle vascular index and biomarkers in vascular-related diseases.

    PubMed

    Liu, Jinbo; Liu, Huan; Zhao, Hongwei; Shang, Guangyun; Zhou, Yingyan; Li, Lihong; Wang, Hongyu

    2017-01-01

    Cardio-ankle vascular index (CAVI) was supposed to be an independent predictor for vascular-related events. Biomarkers such as homocysteine (Hcy), N-terminal pro-brain natriuretic peptide (NT-proBNP), and urine albumin(microalbumin) (UAE) have involved the pathophysiological development of arteriosclerosis. The present study was to investigate relationship between CAVI and biomarkers in vascular-related diseases. A total of 656 subjects (M/F 272/384) from department of Vascular Medicine were enrolled into our study. They were divided into four groups according to the numbers of suffered diseases, healthy group (group 0: subjects without diseases of hypertension, diabetes mellitus (DM), coronary heart disease (CHD); n = 186), group 1 (with one of diseases of hypertension, CHD, DM; n = 237), group 2 (with two of diseases of hypertension, CHD, DM; n = 174), and group 3 (with all diseases of hypertension, CHD, DM; n = 59). CAVI was measured by VS-1000 apparatus. CAVI was increasing with increasing numbers of suffered vascular-related diseases. Similar results were found in the parameters of biomarkers such as Hcy, log NT-ProBNP, and log UAE. There were positive correlation between log NT-proBNP, Hcy, log UAE, and CAVI in the entire study group and nonhealthy group. Positive correlation between log UAE and CAVI were found in the entire study group after adjusting for age, body mass index (BMI), blood pressure, uric acid, and lipids. Multivariate analysis showed that log UAE was an independent associating factor of CAVI in all subjects. CAVI was significantly higher in subjects with hypertension, CHD, and DM. There was correlation between arterial stiffness and biomarkers such as NT-proBNP, Hcy, and UAE.

  1. Prospective multicentre PCR-based Aspergillus DNA screening in high-risk patients with and without primary antifungal mould prophylaxis.

    PubMed

    Springer, J; Lackner, M; Nachbaur, D; Girschikofsky, M; Risslegger, B; Mutschlechner, W; Fritz, J; Heinz, W J; Einsele, H; Ullmann, A J; Löffler, J; Lass-Flörl, C

    2016-01-01

    Invasive aspergillosis (IA) is associated with significant morbidity and mortality, and, among other factors, this is due to a delay in diagnosis performed with conventional techniques. A prospective, multicentre study was conducted to evaluate the efficacy of Aspergillus DNA screening in the early diagnosis of IA. Patients undergoing haematopoietic stem cell transplantation or chemotherapy for acute leukaemia were enrolled for biomarker screening. Three centres applied the same protocol for in-house PCR, which was compliant with the European Aspergillus PCR Initiative recommendations, to guarantee the highest diagnostic standards. Two thousand one hundred and twenty-eight sera from 213 patients were investigated and stratified according to the revised European Organization for the Research and Treatment of Cancer/Mycoses Study Group criteria for invasive fungal disease. The incidence rates of probable and possible IA were 18% and 38%, respectively. The sensitivity, specificity and positive predictive value (PPV) of PCR were superior in antifungal drug-naive patients, being 71.4%, 92.3%, and 62.5%, respectively. The last of these key performance indicators (PPV) was moderate in patients receiving primary prophylaxis, at 5.4%. Negative predictive values for both strategies applied were 100% with and 98.3% without antifungal mould prophylaxis. PCR has the potential to play a decisive role in the diagnosis and management of Aspergillus infections in centres not applying primary antifungal mould prophylaxis. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  2. Epidemiology and the control of disease in China, with emphasis on the Chinese Biobank Study.

    PubMed

    Li, L; Guo, Y; Chen, Z; Chen, J; Peto, R

    2012-03-01

    Similar to many other developing countries, China is facing a double burden of disease as a result of epidemiological transition. Non-communicable diseases (NCDs) represent a major challenge, having an adverse effect on the health of the Chinese population and increasing the economic burden of health care. In today's era of evidence-based medicine and decision making, China, as a developing country, has a lack of local scientific evidence which will affect the effectiveness of NCD prevention and control. As such, and on the basis of decades of cooperation and trust with the University of Oxford, the Chinese Biobank Study [Kadoorie Study of Chronic Disease in China (KSCDC)] was commenced in 2004. KSCDC, an international prospective project, aims to establish the basis of a blood-based health database, using genetic, environmental and lifestyle aspects to investigate and understand the causes, risk factors, pathogenesis, prevalence patterns and trends of major chronic diseases in China (such as stroke, coronary heart disease, cancer, diabetes, hypertension, chronic obstructive pulmonary disease etc.). This study has a duration of 15-20 years, and will provide scientific evidence for strategic planning of NCD prevention and control, and development of new treatment and intervention approaches. In total, approximately 510,000 adults aged 30-79 years have been recruited from the general population in 10 geographically defined regions (five rural and five urban) of China, with differing disease profiles and differing risk exposures. Extensive data collection has been undertaken with questionnaires, physical measurements, and collection and storage of blood samples. KSCDC is a multi-factor, multi-disease, multi-disciplinary large-scale chronic disease epidemiological study, and is also one of the largest long-term blood-based population cohort studies ever conducted in the world. It is worth mentioning that all gene specimens are kept in China, and all associated

  3. Pattern of glomerular diseases in Oman: a study based on light microscopy and immunofluorescence.

    PubMed

    Alwahaibi, Nasar Yousuf; Alhabsi, Taiseer Ahmed; Alrawahi, Samira Abdullah

    2013-03-01

    Light microscopy and immunofluorescence play an important part in the final diagnosis of renal biopsy. The aim of this study was to analyze the pattern of various glomerular diseases in Oman. A total of 424 renal biopsies were retrospectively analyzed at the Sultan Qaboos University Hospital between 1999 and 2010. Focal and segmental glomerulosclerosis (FSGS), minimal change disease (MCD), membranous glomerulopathy (MGN) and IgA nephropathy were the most common primary glomerular diseases encountered, accounting for 21.2%, 17%, 12.3% and 8.3%, respectively, of all cases. Lupus nephritis was the most common secondary glomerular disease and was the most prevalent among all biopsies, accounting for 30.4% of all biopsies. Amyloidosis was seen in only two cases. The presence of fluorescein isothiocyanatefibrin in all renal cases was low when compared with IgG, IgA, IgM, C3 and C1q markers. In conclusion, based on the findings of this study, lupus nephritis was the most common of all glomerular diseases and FSGS was the most common primary glomerular disease. The importance of fluorescein isothiocyanate-fibrin in the diagnosis of renal biopsy needs to be further investigated.

  4. Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships.

    PubMed

    Zhang, Wangshu; Coba, Marcelo P; Sun, Fengzhu

    2016-01-11

    Protein domains can be viewed as portable units of biological function that defines the functional properties of proteins. Therefore, if a protein is associated with a disease, protein domains might also be associated and define disease endophenotypes. However, knowledge about such domain-disease relationships is rarely available. Thus, identification of domains associated with human diseases would greatly improve our understanding of the mechanism of human complex diseases and further improve the prevention, diagnosis and treatment of these diseases. Based on phenotypic similarities among diseases, we first group diseases into overlapping modules. We then develop a framework to infer associations between domains and diseases through known relationships between diseases and modules, domains and proteins, as well as proteins and disease modules. Different methods including Association, Maximum likelihood estimation (MLE), Domain-disease pair exclusion analysis (DPEA), Bayesian, and Parsimonious explanation (PE) approaches are developed to predict domain-disease associations. We demonstrate the effectiveness of all the five approaches via a series of validation experiments, and show the robustness of the MLE, Bayesian and PE approaches to the involved parameters. We also study the effects of disease modularization in inferring novel domain-disease associations. Through validation, the AUC (Area Under the operating characteristic Curve) scores for Bayesian, MLE, DPEA, PE, and Association approaches are 0.86, 0.84, 0.83, 0.83 and 0.79, respectively, indicating the usefulness of these approaches for predicting domain-disease relationships. Finally, we choose the Bayesian approach to infer domains associated with two common diseases, Crohn's disease and type 2 diabetes. The Bayesian approach has the best performance for the inference of domain-disease relationships. The predicted landscape between domains and diseases provides a more detailed view about the disease

  5. Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study.

    PubMed

    Kugathasan, Subra; Denson, Lee A; Walters, Thomas D; Kim, Mi-Ok; Marigorta, Urko M; Schirmer, Melanie; Mondal, Kajari; Liu, Chunyan; Griffiths, Anne; Noe, Joshua D; Crandall, Wallace V; Snapper, Scott; Rabizadeh, Shervin; Rosh, Joel R; Shapiro, Jason M; Guthery, Stephen; Mack, David R; Kellermayer, Richard; Kappelman, Michael D; Steiner, Steven; Moulton, Dedrick E; Keljo, David; Cohen, Stanley; Oliva-Hemker, Maria; Heyman, Melvin B; Otley, Anthony R; Baker, Susan S; Evans, Jonathan S; Kirschner, Barbara S; Patel, Ashish S; Ziring, David; Trapnell, Bruce C; Sylvester, Francisco A; Stephens, Michael C; Baldassano, Robert N; Markowitz, James F; Cho, Judy; Xavier, Ramnik J; Huttenhower, Curtis; Aronow, Bruce J; Gibson, Greg; Hyams, Jeffrey S; Dubinsky, Marla C

    2017-04-29

    Stricturing and penetrating complications account for substantial morbidity and health-care costs in paediatric and adult onset Crohn's disease. Validated models to predict risk for complications are not available, and the effect of treatment on risk is unknown. We did a prospective inception cohort study of paediatric patients with newly diagnosed Crohn's disease at 28 sites in the USA and Canada. Genotypes, antimicrobial serologies, ileal gene expression, and ileal, rectal, and faecal microbiota were assessed. A competing-risk model for disease complications was derived and validated in independent groups. Propensity-score matching tested the effect of anti-tumour necrosis factor α (TNFα) therapy exposure within 90 days of diagnosis on complication risk. Between Nov 1, 2008, and June 30, 2012, we enrolled 913 patients, 78 (9%) of whom experienced Crohn's disease complications. The validated competing-risk model included age, race, disease location, and antimicrobial serologies and provided a sensitivity of 66% (95% CI 51-82) and specificity of 63% (55-71), with a negative predictive value of 95% (94-97). Patients who received early anti-TNFα therapy were less likely to have penetrating complications (hazard ratio [HR] 0·30, 95% CI 0·10-0·89; p=0·0296) but not stricturing complication (1·13, 0·51-2·51; 0·76) than were those who did not receive early anti-TNFα therapy. Ruminococcus was implicated in stricturing complications and Veillonella in penetrating complications. Ileal genes controlling extracellular matrix production were upregulated at diagnosis, and this gene signature was associated with stricturing in the risk model (HR 1·70, 95% CI 1·12-2·57; p=0·0120). When this gene signature was included, the model's specificity improved to 71%. Our findings support the usefulness of risk stratification of paediatric patients with Crohn's disease at diagnosis, and selection of anti-TNFα therapy. Crohn's and Colitis Foundation of America, Cincinnati

  6. Health Information–Seeking Patterns of the General Public and Indications for Disease Surveillance: Register-Based Study Using Lyme Disease

    PubMed Central

    Virtanen, Mikko J; Sane, Jussi; Mustonen, Pekka; Kaila, Minna; Helve, Otto

    2017-01-01

    Background People using the Internet to find information on health issues, such as specific diseases, usually start their search from a general search engine, for example, Google. Internet searches such as these may yield results and data of questionable quality and reliability. Health Library is a free-of-charge medical portal on the Internet providing medical information for the general public. Physician’s Databases, an Internet evidence-based medicine source, provides medical information for health care professionals (HCPs) to support their clinical practice. Both databases are available throughout Finland, but the latter is used only by health professionals and pharmacies. Little is known about how the general public seeks medical information from medical sources on the Internet, how this behavior differs from HCPs’ queries, and what causes possible differences in behavior. Objective The aim of our study was to evaluate how the general public’s and HCPs’ information-seeking trends from Internet medical databases differ seasonally and temporally. In addition, we aimed to evaluate whether the general public’s information-seeking trends could be utilized for disease surveillance and whether media coverage could affect these seeking trends. Methods Lyme disease, serving as a well-defined disease model with distinct seasonal variation, was chosen as a case study. Two Internet medical databases, Health Library and Physician’s Databases, were used. We compared the general public’s article openings on Lyme disease from Health Library to HCPs’ article openings on Lyme disease from Physician’s Databases seasonally across Finland from 2011 to 2015. Additionally, media publications related to Lyme disease were searched from the largest and most popular media websites in Finland. Results Both databases, Health Library and Physician’s Databases, show visually similar patterns in temporal variations of article openings on Lyme disease in Finland from 2011

  7. KNOW-CKD (KoreaN cohort study for Outcome in patients With Chronic Kidney Disease): design and methods.

    PubMed

    Oh, Kook-Hwan; Park, Sue Kyung; Park, Hayne Cho; Chin, Ho Jun; Chae, Dong Wan; Choi, Kyu Hun; Han, Seung Hyeok; Yoo, Tae Hyun; Lee, Kyubeck; Kim, Yong-Soo; Chung, Wookyung; Hwang, Young-Hwan; Kim, Soo Wan; Kim, Yeong Hoon; Kang, Sun Woo; Park, Byung-Joo; Lee, Joongyub; Ahn, Curie

    2014-05-19

    The progression and complications of chronic kidney disease should differ depending on the cause (C), glomerular filtration rate category (G), and albuminuria (A). The KNOW-CKD (KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease), which is a prospective cohort study, enrolls subjects with chronic kidney disease stages 1 to 5 (predialysis). Nine nephrology centers in major university hospitals throughout Korea will enroll approximately 2,450 adults with chronic kidney disease over a 5-year period from 2011 to 2015. The participating individuals will be monitored for approximately 10 years until death or until end-stage renal disease occurs. The subjects will be classified into subgroups based on the following specific causes of chronic kidney disease: glomerulonephritis, diabetic nephropathy, hypertensive nephropathy, polycystic kidney disease, and others. The eligible subjects will be evaluated at baseline for socio-demographic information, detailed personal/family history, office BP, quality of life, and health behaviors. After enrollment in the study, thorough assessments, including laboratory tests, cardiac evaluation and radiologic imaging, will be performed according to the standardized protocol. The biospecimen samples will be collected regularly. A renal event is defined by >50% decrease in estimated GFR (eGFR) from the baseline values, doubling of serum creatinine, or end-stage renal disease. The primary composite outcome consists of renal events, cardiovascular events, and death. As of September 2013, 1,470 adult chronic kidney disease subjects were enrolled in the study, including 543 subjects with glomerulonephritis, 317 with diabetic nephropathy, 294 with hypertensive nephropathy and 249 with polycystic kidney disease. As the first large-scale chronic kidney disease cohort study to be established and maintained longitudinally for up to 10 years, the KNOW-CKD will help to clarify the natural course, complication profiles, and risk

  8. A Mapping Study on Mobile Games for Patients of Chronic Diseases.

    PubMed

    de Sá, Kévin Cardoso; Martins, Márcio Garcia; da Costa, Cristiano André; Barbosa, Jorge Luis Victoria; da Rosa Righi, Rodrigo

    2017-09-01

    There is a growing interest of using technologies to propose solutions for healthcare issues. One of such issues is the incidence of chronic diseases, which are responsible for a considerable proportion of worldwide mortality. It is possible to prevent the development of such diseases using tools and methods that instruct the population. To achieve this, mobile games provide a powerful environment for teaching different subjects to user, without them actively knowing that they are learning new concepts. Despite the growing interest of using mobile games in healthcare, more specifically by patients with chronic diseases, in the best of our knowledge there are no studies that address the current research being published in the area. To close this gap, we carried out a systematic mapping study to synthesize an overview of the area. Five databases were searched and more than 1200 studies were analyzed and filtered. Among them, 17 met the the inclusion and exclusion criteria defined in this work. The results show that there is still room for research in this area, since the studies focus on a younger audience rather than proposing solutions for all ages. Furthermore, the number of chronic conditions being addressed is still small, obesity and diabetes are prevalent. Besides, the full capacity of game features that foster learning through games are not being employed, the majority of games proposed by the articles encompass less than half of these features.

  9. Probiotics in diverticular disease of the colon: an open label study.

    PubMed

    Lamiki, Pepu; Tsuchiya, Junji; Pathak, Surajit; Okura, Ruichi; Solimene, Umberto; Jain, Shalini; Kawakita, Shichiro; Marotta, Francesco

    2010-03-01

    To investigate the effectiveness and safety of a symbiotic mixture in preventing recurrence of constipation-related abdominal pain in patients with uncomplicated diverticular disease of the colon. Forty-six consecutive patients (10 men, 36 women, mean age 62.5 years, range 49 to 77 years), previously affected by symptomatic uncomplicated diverticular disease of the colon, were enrolled in a 6-month follow-up study in a prospective, randomized, open-label study. The following symptoms were assessed at entry and through follow-up by using a quantitative scale: constipation, diarrhoea and abdominal pain. After recruitment, the patients were assigned to the following treatment: SCM-III symbiotic mixture, 10 ml three times a day. The colonization of ingested Lactobacillus acidophilus 145 and Bifidobacterium spp. 420 was assessed by species-specific PCR. Forty-five patients completed the study (97%). Thirty-one patients (68%) were still symptom free after the 6th month of treatment. Treatment with SCM-III was regarded as "effective" or "very effective" in more than 78% of the patients altogether (p<0.01 vs baseline values). The microbiological study showed that, as compared to baseline values, SCM-III enabled a significant increase of the lactobacilli and bifidobacteria counting and a trend decrease of clostridia. Genomic analysis confirmed the survivability of the ingested strain as long as treatment was given. The present symbiotic mixture seems to be effective in preventing recurrence of symptomatic uncomplicated diverticular disease of the colon, especially in those patients with constipation-predominant features.

  10. Presenilin E318G variant and Alzheimer's disease risk: the Cache County study.

    PubMed

    Hippen, Ariel A; Ebbert, Mark T W; Norton, Maria C; Tschanz, JoAnn T; Munger, Ronald G; Corcoran, Christopher D; Kauwe, John S K

    2016-06-29

    Alzheimer's disease is the leading cause of dementia in the elderly and the third most common cause of death in the United States. A vast number of genes regulate Alzheimer's disease, including Presenilin 1 (PSEN1). Multiple studies have attempted to locate novel variants in the PSEN1 gene that affect Alzheimer's disease status. A recent study suggested that one of these variants, PSEN1 E318G (rs17125721), significantly affects Alzheimer's disease status in a large case-control dataset, particularly in connection with the APOEε4 allele. Our study looks at the same variant in the Cache County Study on Memory and Aging, a large population-based dataset. We tested for association between E318G genotype and Alzheimer's disease status by running a series of Fisher's exact tests. We also performed logistic regression to test for an additive effect of E318G genotype on Alzheimer's disease status and for the existence of an interaction between E318G and APOEε4. In our Fisher's exact test, it appeared that APOEε4 carriers with an E318G allele have slightly higher risk for AD than those without the allele (3.3 vs. 3.8); however, the 95 % confidence intervals of those estimates overlapped completely, indicating non-significance. Our logistic regression model found a positive but non-significant main effect for E318G (p = 0.895). The interaction term between E318G and APOEε4 was also non-significant (p = 0.689). Our findings do not provide significant support for E318G as a risk factor for AD in APOEε4 carriers. Our calculations indicated that the overall sample used in the logistic regression models was adequately powered to detect the sort of effect sizes observed previously. However, the power analyses of our Fisher's exact tests indicate that our partitioned data was underpowered, particularly in regards to the low number of E318G carriers, both AD cases and controls, in the Cache county dataset. Thus, the differences in types of datasets used may help to

  11. Knowledge and experiences of Chagas disease in Bolivian women living in Spain: a qualitative study.

    PubMed

    Blasco-Hernández, Teresa; García-San Miguel, Lucía; Navaza, Bárbara; Navarro, Miriam; Benito, Agustín

    2016-01-01

    In Europe, Spain has the highest number of people with Chagas disease (CD). Bolivian migrants account for 81% of the reported cases. One of the priorities in controlling the disease is prevention of mother-to-child transmission. Despite under-diagnosis in Spain being estimated at 90%, there are currently few studies that explore the social and cultural dimensions of this disease. The aim of this study was to explore the knowledge and experiences of Bolivian women with CD, in order to generate a useful understanding for the design and implementation of public health initiatives. Qualitative study based on semi-structured interviews, triangular groups, and field notes. Fourteen Bolivian women with CD living in Madrid. The participants were aware that the disease was transmitted through the vector, that it could be asymptomatic, and that it could also be associated with sudden death by heart failure. They opined that the treatment as such could not cure the disease but only slow it down. There was a sense of indifference along with a lack of understanding of the risk of contracting the disease. Participants who presented with symptoms, or those with relatives suffering from the disease, were concerned about fatalities, cardiac problems, and possible vertical transmission. There was also a fear of being rejected by others. The disease was described as something that affected a large number of people but only showed up in a few cases and that too after many years. There was a widespread assumption that it was better not to know because doing so, allows the disease to take hold. Disease risk perception was very low in Bolivian women living in Madrid. This factor, together with the fear of being screened, may be contributing to the current rate of under-diagnosis.

  12. Knowledge and experiences of Chagas disease in Bolivian women living in Spain: a qualitative study

    PubMed Central

    Blasco-Hernández, Teresa; Miguel, Lucía García-San; Navaza, Bárbara; Navarro, Miriam; Benito, Agustín

    2016-01-01

    Background In Europe, Spain has the highest number of people with Chagas disease (CD). Bolivian migrants account for 81% of the reported cases. One of the priorities in controlling the disease is prevention of mother-to-child transmission. Despite under-diagnosis in Spain being estimated at 90%, there are currently few studies that explore the social and cultural dimensions of this disease. Objective The aim of this study was to explore the knowledge and experiences of Bolivian women with CD, in order to generate a useful understanding for the design and implementation of public health initiatives. Design Qualitative study based on semi-structured interviews, triangular groups, and field notes. Participants Fourteen Bolivian women with CD living in Madrid. Results The participants were aware that the disease was transmitted through the vector, that it could be asymptomatic, and that it could also be associated with sudden death by heart failure. They opined that the treatment as such could not cure the disease but only slow it down. There was a sense of indifference along with a lack of understanding of the risk of contracting the disease. Participants who presented with symptoms, or those with relatives suffering from the disease, were concerned about fatalities, cardiac problems, and possible vertical transmission. There was also a fear of being rejected by others. The disease was described as something that affected a large number of people but only showed up in a few cases and that too after many years. There was a widespread assumption that it was better not to know because doing so, allows the disease to take hold. Conclusions Disease risk perception was very low in Bolivian women living in Madrid. This factor, together with the fear of being screened, may be contributing to the current rate of under-diagnosis. PMID:26976265

  13. Screening of some essential oils against Trichosporon species.

    PubMed

    Uniyal, Veena; Saxena, Seema; Bhatt, R P

    2013-01-01

    White Piedra is a superficial mycoses characterized by nodules on the hair shaft, caused by the basidiomycetous yeast Trichosporon species. In this study 25 essential oils were extracted and screened against two Trichosporon species i.e. Trichosporon asahii and Trichosporon cutaneum. Both these fungi procured from MTCC Chandigarh were maintained on yeast malt agar plates and tubes at 25 degrees C. Two screening methods viz., agar well diffusion assay and minimum inhibitory concentration were adopted for the study. The results showed that the maximum anti-yeast activity against T. asahii and T. cutaneum was demonstrated by oil of Mentha piperita showing full inhibition of both the fungi, Melaleuca alternifolia with an inhibition zone of 45 and 40 mm, Cymbopogon winterians with inhibition zone of 45 and 45 mm and Cymbopogon flexuosus with 35 and 30 mm inhibition zones. The oil of Trachyspermum ammi exhibited 10 and 20 mm, Abelmoschus moschatus exhibited 30 and 20 mm, Salvia sclarea showed 20 and 18 mm and Jasminum officinale exhibited 25 and 15 mm inhibition zones showing moderate activity. The oil of Cyperus scariosus, Pogostemon patchouli and Rosa damascene showed no inhibition zone against both the fungi while Vetiveria zizanoides exhibited no inhibition in case of T. asahii and inhibition zone of 10 mm in case of T. cutaneum demonstrating comparatively low activity against both the fungi. These results support that the essential oils can be used to cure superficial mycoses and these oils may have significant role as pharmaceuticals and preservatives.

  14. The hydrolytic enzymes produced by fungi strains isolated from the sand and soil of recreational areas

    PubMed

    Kurnatowski, Piotr; Wójcik, Anna; Błaszkowska, Joanna; Góralska, Katarzyna

    2016-10-01

    The pathogenicity of fungi depends on, inter alia, the secretion of hydrolytic enzymes. The aim of this study was to determine the enzymatic activity of yeasts and yeast-like fungi isolated from children’s recreation areas, and compare the results with literature data of strains obtained from patients with mycoses. The enzymatic activity of 96 strains was assessed using an API ZYM kit (bioMerieux, France) and their biotypes were established. The fungal species were found to produce from 16 to 19 hydrolases: the most active were: leucine arylamidase (e5), acid phosphatase (e10), alkaline phosphatase (e1), naphthol-AS-BI-phosphohydrolase (e11), esterase – C4 (e2), β-galac - tosidase (e13) and β-glucosidase (e16). In addition, 13 biotypes characteristic of particular species of fungi were defined. Most strains could be categorized as biotypes C2 – 39.5% and A – 26%. The examined fungal strains isolated from recreational areas have selected biochemical characteristics i.e. production of hydrolases, which demonstrate their pathogenicity. They produce a number of enzymes which are also present in strains isolated from patients with mycoses, including: leucine arylamidase (e5), acid phosphatase (e10), naphthol-AS-BI-phosphohydrolase (e11) and alkaline phosphatase (e1). The biotypes identified in the course of this study (A, B3, B4, C1, C6 and D3) have been also reported in cases of fungal infection. Therefore, the fungi present in the sand and soil of recreational have pathogenic properties and are possible factors of fungal infection among children.

  15. [Evaluation of Fusarium spp. pathogenicity in plant and murine models].

    PubMed

    Forero-Reyes, Consuelo M; Alvarado-Fernández, Angela M; Ceballos-Rojas, Ana M; González-Carmona, Lady C; Linares-Linares, Melva Y; Castañeda-Salazar, Rubiela; Pulido-Villamarín, Adriana; Góngora-Medina, Manuel E; Cortés-Vecino, Jesús A; Rodríguez-Bocanegra, María X

    The genus Fusarium is widely recognized for its phytopathogenic capacity. However, it has been reported as an opportunistic pathogen in immunocompetent and immunocompromised patients. Thus, it can be considered a microorganism of interest in pathogenicity studies on different hosts. Therefore, this work evaluated the pathogenicity of Fusarium spp. isolates from different origins in plants and animals (murine hosts). Twelve isolates of Fusarium spp. from plants, animal superficial mycoses, and human superficial and systemic mycoses were inoculated in tomato, passion fruit and carnation plants, and in immunocompetent and immunosuppressed BALB/c mice. Pathogenicity tests in plants did not show all the symptoms associated with vascular wilt in the three plant models; however, colonization and necrosis of the vascular bundles, regardless of the species and origin of the isolates, showed the infective potential of Fusarium spp. in different plant species. Moreover, the pathogenicity tests in the murine model revealed behavioral changes. It was noteworthy that only five isolates (different origin and species) caused mortality. Additionally, it was observed that all isolates infected and colonized different organs, regardless of the species and origin of the isolates or host immune status. In contrast, the superficial inoculation test showed no evidence of epidermal injury or colonization. The observed results in plant and murine models suggest the pathogenic potential of Fusarium spp. isolates in different types of hosts. However, further studies on pathogenicity are needed to confirm the multihost capacity of this genus. Copyright © 2017 Asociación Argentina de Microbiología. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Dog as a model in studies on human hereditary diseases and their gene therapy.

    PubMed

    Switonski, Marek

    2014-03-01

    During the last 15 years spectacular progress has been achieved in knowledge on the dog genome organization and the molecular background of hereditary diseases in this species. A majority of canine genetic diseases have their counterparts in humans and thus dogs are considered as a very important large animal model in human biomedicine. Among canine monogenic diseases with known causative gene mutations there are two large groups classified as retinal dystrophies and lysosomal storage diseases. Specific types of these diseases are usually diagnosed in a single or several breeds. A well known disorder, restricted to a single breed, is congenital stationary night blindness described in Briards. This disease is a counterpart of Leber amaurosis in children. On the other hand, one of the most common monogenic human diseases (Duchenne muscular dystrophy), has its canine counterparts in several breeds (e.g., the Golden retriever, Beagle and German short-haired pointer). For some of the canine diseases gene therapy strategy was successfully applied, e.g., for congenital stationary night blindness, rod-cone dystrophy and muccopolysaccharydoses type I, IIIB and VII. Since phenotypic variability between the breeds is exceptionally high, the dog is an interesting model to study the molecular background of congenital malformations (e.g., dwarfism and osteoporosis imperfecta). Also disorders of sexual development (DSD), especially testicular or ovotesticular DSD (78,XX; SRY-negative), which is widely distributed across dozens of breeds, are of particular interest. Studies on the genetic background of canine cancers, a major health problem in this species, are also quite advanced. On the other hand, genetic studies on canine counterparts of major human complex diseases (e.g., obesity, the metabolic syndrome and diabetes mellitus) are still in their infancy. Copyright © 2014 Society for Biology of Reproduction & the Institute of Animal Reproduction and Food Research of Polish

  17. Genome-wide association study of Alzheimer's disease with psychotic symptoms.

    PubMed

    Hollingworth, P; Sweet, R; Sims, R; Harold, D; Russo, G; Abraham, R; Stretton, A; Jones, N; Gerrish, A; Chapman, J; Ivanov, D; Moskvina, V; Lovestone, S; Priotsi, P; Lupton, M; Brayne, C; Gill, M; Lawlor, B; Lynch, A; Craig, D; McGuinness, B; Johnston, J; Holmes, C; Livingston, G; Bass, N J; Gurling, H; McQuillin, A; Holmans, P; Jones, L; Devlin, B; Klei, L; Barmada, M M; Demirci, F Y; DeKosky, S T; Lopez, O L; Passmore, P; Owen, M J; O'Donovan, M C; Mayeux, R; Kamboh, M I; Williams, J

    2012-12-01

    Psychotic symptoms occur in ~40% of subjects with Alzheimer's disease (AD) and are associated with more rapid cognitive decline and increased functional deficits. They show heritability up to 61% and have been proposed as a marker for a disease subtype suitable for gene mapping efforts. We undertook a combined analysis of three genome-wide association studies (GWASs) to identify loci that (1) increase susceptibility to an AD and subsequent psychotic symptoms; or (2) modify risk of psychotic symptoms in the presence of neurodegeneration caused by AD. In all, 1299 AD cases with psychosis (AD+P), 735 AD cases without psychosis (AD-P) and 5659 controls were drawn from Genetic and Environmental Risk in AD Consortium 1 (GERAD1), the National Institute on Aging Late-Onset Alzheimer's Disease (NIA-LOAD) family study and the University of Pittsburgh Alzheimer Disease Research Center (ADRC) GWASs. Unobserved genotypes were imputed to provide data on >1.8 million single-nucleotide polymorphisms (SNPs). Analyses in each data set were completed comparing (1) AD+P to AD-P cases, and (2) AD+P cases with controls (GERAD1, ADRC only). Aside from the apolipoprotein E (APOE) locus, the strongest evidence for association was observed in an intergenic region on chromosome 4 (rs753129; 'AD+PvAD-P' P=2.85 × 10(-7); 'AD+PvControls' P=1.11 × 10(-4)). SNPs upstream of SLC2A9 (rs6834555, P=3.0 × 10(-7)) and within VSNL1 (rs4038131, P=5.9 × 10(-7)) showed strongest evidence for association with AD+P when compared with controls. These findings warrant further investigation in larger, appropriately powered samples in which the presence of psychotic symptoms in AD has been well characterized.

  18. Antidepressant Studies in Parkinson’s Disease

    PubMed Central

    Weintraub, Daniel; Morales, Knashawn H.; Moberg, Paul J.; Bilker, Warren B.; Balderston, Catherine; Duda, John E.; Katz, Ira R.; Stern, Matthew B.

    2007-01-01

    The objective of this study was to determine effect sizes for both antidepressant treatment and placebo for depression in Parkinson’s disease (PD), and to compare the findings with those reported in elderly depressed patients without PD. Recent reviews have concluded that there is little empiric evidence to support the use of antidepressants in PD; however, available data has not been analyzed to determine the effect size for antidepressant treatment in PD depression. A literature review identified antidepressant studies in PD. Suitable studies were analyzed using meta-analytic techniques, and effect sizes were compared with those from antidepressant studies in elderly patients without PD. Large effect sizes were found for both active treatment and placebo in PD, but there was no difference between the two groups. In contrast, active treatment was superior to placebo in depressed elderly patients without PD. In PD, increasing age and a diagnosis of major depression were associated with better treatment response. Results also suggest that newer antidepressants are well tolerated in PD. Despite the high prevalence of depression and antidepressant use in PD, controlled treatment research has been almost non-existent. Meta-analysis results suggest a large but nonspecific effect for depression treatment in PD. In addition, PD patients may benefit less from antidepressant treatment, particularly selective serotonin reuptake inhibitors, than do elderly patients without PD. PMID:15954137

  19. [NOD2 gene mutation in Moroccan patients with Crohn's disease: prevalence, genotypic study and correlation of NOD2 gene mutation with the phenotype of Crohn's disease].

    PubMed

    Tamzaourte, Mouna; Errabih, Ikram; Krami, Hayat; Maha, Fadlouallah; Maria, Lahmiri; Benzzoubeir, Nadia; Ouazzani, Laaziza; Sefiani, Ahmed; Ouazzani, Houria

    2017-01-01

    The aim of this study was to determine the prevalence of NOD2/CARD15 gene mutations in a group of Moroccan patients with Crohn's disease and to study its correlation with genotype-phenotypic expression. We conducted a cross-sectional case-control study over a period of 16 months. 101 patients with Crohn's disease were enrolled between January 2012 and April 2013 as well as a control group of 107 patients. We performed a genetic analysis to identify 3 NOD2 gene variants: p.Arg702Trp, p.Gly908Arg and p.Leu1007fsins. Then we conducted a study of the correlation between genotype and phenotypic expression. The genetic analysis of patients with Crohn's disease highlighted the presence of NOD2 mutation in 14 patients (13.77%) versus 7 patients (6.53%) in the control group. The study of the frequency of different alleles showed p.Gly908Arg mutation in 6.43%, p.Leu1007fsins in 0.99% and p.Arg702Trp in 0.49% versus 2.80%, 0% and 0.46% in the control group respectively. The study of the correlation between genotype and phenotypic expression showed that CARD15 mutation is associated with ileocecal Crohn's disease, with fistulizing and stenosing behavior in Crohn's disease as well as with severe evolution and frequent recourse to surgery and immunosuppressants. The prevalence of NOD2/ CARD15 mutation in our case series is low. This mutation is correlated with severe Crohn's disease.

  20. Distance Caregivers of People with Alzheimer's Disease and Related Dementia: A Phenomenological Study

    ERIC Educational Resources Information Center

    Edwards, Megan

    2010-01-01

    The population of distance caregivers of people with dementia/Alzheimer's disease has not been extensively researched. This research study focused on exploring the lived experience of people caring for someone with dementia/Alzheimer's disease from a distance (defined as 2 or more hours away) to help shed light on this caregiving population. Ten…

  1. Incidence of autoimmune bullous diseases in Serbia: a 20-year retrospective study.

    PubMed

    Milinković, Mirjana V; Janković, Slavenka; Medenica, Ljiljana; Nikolić, Miloš; Reljić, Vesna; Popadić, Svetlana; Janković, Janko

    2016-10-01

    While most previous surveys on the clinico-epidemiological features of autoimmune bullous diseases (AIBDs) have predominantly focused on a single disease entity or just one disease group, there have been only few studies examining the incidence of various AIBDs. In the present study, we set out to determine the spectrum of AIBDs, to estimate the incidence of the most common AIBDs, and to examine their temporal trends in Central Serbia over a period of 20 years. We retrospectively recruited 1,161 new AIBD cases diagnosed in Central Serbia during the period from January 1991 to December 2010. The diagnosis was based on strict clinical, histological, and immunohistological evaluation. The incidence rates were: 4.35 per million population/year (pmp/year) for pemphigus, 4.47 pmp/year for pemphigoid, 1.42 pmp/year for dermatitis herpetiformis (DH), 0.25 pmp/year for linear IgA disease, and 0.08 pmp/year for epidermolysis bullosa acquisita. In the period observed, age-adjusted incidence rates significantly increased for pemphigus and particularly for pemphigoid, whereas they decreased, albeit not significantly, for DH. For the first time, our study evaluates the incidence rates of the entire spectrum of AIBDs in Serbia, and examines their temporal trends over a 20-year period. To the best of our knowledge, our finding of similar incidence rates for pemphigus and pemphigoid has previously not been reported. © 2016 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  2. Epidemiological studies in incidence, prevalence, mortality, and comorbidity of the rheumatic diseases

    PubMed Central

    Gabriel, Sherine E; Michaud, Kaleb

    2009-01-01

    Epidemiology is the study of the distribution and determinants of disease in human populations. Over the past decade there has been considerable progress in our understanding of the fundamental descriptive epidemiology (levels of disease frequency: incidence and prevalence, comorbidity, mortality, trends over time, geographic distributions, and clinical characteristics) of the rheumatic diseases. This progress is reviewed for the following major rheumatic diseases: rheumatoid arthritis (RA), juvenile rheumatoid arthritis, psoriatic arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, polymyalgia rheumatica, gout, Sjögren's syndrome, and ankylosing spondylitis. These findings demonstrate the dynamic nature of the incidence and prevalence of these conditions – a reflection of the impact of genetic and environmental factors. The past decade has also brought new insights regarding the comorbidity associated with rheumatic diseases. Strong evidence now shows that persons with RA are at a high risk for developing several comorbid disorders, that these conditions may have atypical features and thus may be difficult to diagnose, and that persons with RA experience poorer outcomes after comorbidity compared with the general population. Taken together, these findings underscore the complexity of the rheumatic diseases and highlight the key role of epidemiological research in understanding these intriguing conditions. PMID:19519924

  3. Assessment of brain reference genes for RT-qPCR studies in neurodegenerative diseases

    PubMed Central

    Rydbirk, Rasmus; Folke, Jonas; Winge, Kristian; Aznar, Susana; Pakkenberg, Bente; Brudek, Tomasz

    2016-01-01

    Evaluation of gene expression levels by reverse transcription quantitative real-time PCR (RT-qPCR) has for many years been the favourite approach for discovering disease-associated alterations. Normalization of results to stably expressed reference genes (RGs) is pivotal to obtain reliable results. This is especially important in relation to neurodegenerative diseases where disease-related structural changes may affect the most commonly used RGs. We analysed 15 candidate RGs in 98 brain samples from two brain regions from Alzheimer’s disease (AD), Parkinson’s disease (PD), Multiple System Atrophy, and Progressive Supranuclear Palsy patients. Using RefFinder, a web-based tool for evaluating RG stability, we identified the most stable RGs to be UBE2D2, CYC1, and RPL13 which we recommend for future RT-qPCR studies on human brain tissue from these patients. None of the investigated genes were affected by experimental variables such as RIN, PMI, or age. Findings were further validated by expression analyses of a target gene GSK3B, known to be affected by AD and PD. We obtained high variations in GSK3B levels when contrasting the results using different sets of common RG underlining the importance of a priori validation of RGs for RT-qPCR studies. PMID:27853238

  4. Assessment of brain reference genes for RT-qPCR studies in neurodegenerative diseases.

    PubMed

    Rydbirk, Rasmus; Folke, Jonas; Winge, Kristian; Aznar, Susana; Pakkenberg, Bente; Brudek, Tomasz

    2016-11-17

    Evaluation of gene expression levels by reverse transcription quantitative real-time PCR (RT-qPCR) has for many years been the favourite approach for discovering disease-associated alterations. Normalization of results to stably expressed reference genes (RGs) is pivotal to obtain reliable results. This is especially important in relation to neurodegenerative diseases where disease-related structural changes may affect the most commonly used RGs. We analysed 15 candidate RGs in 98 brain samples from two brain regions from Alzheimer's disease (AD), Parkinson's disease (PD), Multiple System Atrophy, and Progressive Supranuclear Palsy patients. Using RefFinder, a web-based tool for evaluating RG stability, we identified the most stable RGs to be UBE2D2, CYC1, and RPL13 which we recommend for future RT-qPCR studies on human brain tissue from these patients. None of the investigated genes were affected by experimental variables such as RIN, PMI, or age. Findings were further validated by expression analyses of a target gene GSK3B, known to be affected by AD and PD. We obtained high variations in GSK3B levels when contrasting the results using different sets of common RG underlining the importance of a priori validation of RGs for RT-qPCR studies.

  5. Manual lymphatic drainage in chronic venous disease: a duplex ultrasound study.

    PubMed

    Dos Santos Crisóstomo, Rute Sofia; Candeias, Miguel Sandu; Ribeiro, Ana Margarida Martins; da Luz Belo Martins, Catarina; Armada-da-Silva, Paulo As

    2014-12-01

    To compare the effect of call-up and reabsorption maneuvers of manual lymphatic drainage on blood flow in femoral vein and great saphenous vein in patients with chronic venous disease and healthy controls. Forty-one subjects participated in this study (mean age: 42.68(15.23)), 23 with chronic venous disease (chronic venous disease group) with clinical classification C1-5 of clinical-etiological-anatomical-pathological (CEAP) and 18 healthy subjects (control group). Call-up and reabsorption maneuvers were randomly applied in the medial aspect of the thigh. The cross-sectional areas, as well as the peak and the mean blood flow velocity at femoral vein and great saphenous vein, were assessed by Duplex ultrasound at the baseline and during maneuvers. The venous flow volume changes were calculated. The venous flow volume in femoral vein and great saphenous vein increased during both manual lymphatic drainage maneuvers and in both groups (P < 0.05). The two maneuvers had a similar effect on femoral vein and great saphenous vein hemodynamics, and in both the chronic venous disease and control groups. As a result of the call-up maneuver, the flow volume augmentations, as a result of call-up maneuver, decreased with the severity of chronic venous disease in those patients measured by the clinical classification of CEAP (r = -0.64; P = 0.03). Manual lymphatic drainage increases the venous blood flow in the lower extremity with a magnitude that is independent from the specific maneuver employed or the presence of chronic venous disease. Therefore, manual lymphatic drainage may be an alternative strategy for the treatment and prevention of venous stasis complications in chronic venous disease. © The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  6. Reappearance of beriberi heart disease in Japan. A study of 23 cases.

    PubMed

    Kawai, C; Wakabayashi, A; Matsumura, T; Yui, Y

    1980-09-01

    Twenty-three Japanese patients with beriberi heart disease, 17 of them teenagers, were studied. The recent tendency for teenagers to take excessive sweet carbonated soft drinks, instant noodles and powermill-polished rice readily induces relative thiamine deficiency. A sudden increase in thiamine requirements due to strenuous exercise can result in overt beriberi heart disease. Alcohol had nothing to do with the development of the disease. Characteristic features commonly seen in teenage patients include peripheral edema, low peripheral vascular resistance, increased venous pressure enlarged heart, T wave abnormalities, hyperkinetic circulatory state and increased circulating blood volume. Thiamine deficiency was confirmed by a decrease in blood thiamine concentration, a decrease in erythrocyte transketolase activity and an increase in thiamine pyrophosphate (TPP) effect. Improvement was rapidly achieved with thiamine administration, balanced nutrition and rest, especially in the teenage patients. Increased circulating blood volume was useful in differentiating beriberi heart disease from hyperthyroidism.

  7. Drosophila as a screening tool to study human neurodegenerative diseases.

    PubMed

    Lenz, Sarah; Karsten, Peter; Schulz, Jörg B; Voigt, Aaron

    2013-11-01

    In an aging society, research involving neurodegenerative disorders is of paramount importance. Over the past few years, research on Alzheimer's and Parkinson's diseases has made tremendous progress. Experimental studies, however, rely mostly on transgenic animal models, preferentially using mice. Although experiments on mice have enormous advantages, they also have some inherent limitations, some of which can be overcome by the use of Drosophila melanogaster as an experimental animal. Among the major advantages of using the fly is its small genome, which can also be modified very easily. The fact that its genome lends itself to diverse alterations (e. g. mutagenesis, transposons) has made the fly a useful organism to perform large-scale and genome-wide screening approaches. This has opened up an entirely new field of experimental research aiming to elucidate genetic interactions and screen for modifiers of disease processes in vivo. Here, we provide a brief overview of how flies can be used to analyze molecular mechanisms underlying human neurodegenerative diseases. © 2013 International Society for Neurochemistry.

  8. Rivastigmine for mild cognitive impairment in Parkinson disease: a placebo-controlled study.

    PubMed

    Mamikonyan, Eugenia; Xie, Sharon X; Melvin, Emilie; Weintraub, Daniel

    2015-06-01

    Mild cognitive impairment (MCI) in Parkinson's disease (PD) may be associated with subtle functional impairment and worse quality of life. The objective of this study was to determine the efficacy and tolerability of rivastigmine for PD-MCI. Patients with PD-MCI (n = 28) were enrolled in a 24-week, randomized, double-blind, placebo-controlled, crossover, single-site study of the rivastigmine transdermal patch. The primary outcome measure was the Alzheimer's Disease Cooperative Study-Clinical Global Impression of Change (ADCS-CGIC). Secondary outcomes included the Montreal Cognitive Assessment (MoCA), Dementia Rating Scale-2 (DRS-2), Neurotrax computerized cognitive battery, the Everyday Cognition Battery (ECB), and the Parkinson's Disease Questionnaire (PDQ-8). Twenty-six participants (92.9%) completed both study phase assessments, and 23 (82.1%) completed both phases on study medication. The CGIC response rate demonstrated a trend effect in favor of rivastigmine (regression coefficient for interaction term in linear mixed-effects model = 0.44, F[df] = 3.01 [1, 24], P = 0.096). For secondary outcomes, a significant rivastigmine effect on the ECB (regression coefficient = -2.41, F[df] = 5.81 [1, 22.05], P = 0.03) was seen, but no treatment effect was found on any cognitive measures. Trend effects also occurred in favor of rivastigmine on the PDQ-8 (regression coefficient = 4.55, F[df] = 3.93 [1, 14. 79], P = 0.09) and the State Anxiety Inventory (regression coefficient = -1.24, F[df] = 3.17 [1, 33], P = 0.08). Rivastigmine in PD-MCI showed a trend effect for improvements on a global rating of cognition, disease-related health status, and anxiety severity, and significant improvement on a performance-based measure of cognitive abilities. © 2015 International Parkinson and Movement Disorder Society. © 2015 International Parkinson and Movement Disorder Society.

  9. Prevalence and Morbidity of Undiagnosed Celiac Disease From a Community-Based Study.

    PubMed

    Choung, Rok Seon; Larson, Scott A; Khaleghi, Shahryar; Rubio-Tapia, Alberto; Ovsyannikova, Inna G; King, Katherine S; Larson, Joseph J; Lahr, Brian D; Poland, Gregory A; Camilleri, Michael J; Murray, Joseph A

    2017-03-01

    Little is known about the prevalence and burden of undiagnosed celiac disease in individuals younger than age 50. We determined the prevalence and morbidity of undiagnosed celiac disease in individuals younger than age 50 in a community. We tested sera from 31,255 residents of Olmsted County, Minnesota (<50 y), without a prior diagnosis of celiac disease assay using an assay for IgA against tissue transglutaminase; in subjects with positive test results, celiac disease was confirmed using an assay for endomysial IgA. We performed a nested case-control study to compare the proportion of comorbidities between undiagnosed cases of celiac disease and age- and sex-matched seronegative controls (1:2). Medical records were abstracted to identify potential comorbidities. We identified 338 of 30,425 adults with positive results from both serologic tests. Based on this finding, we estimated the prevalence of celiac disease to be 1.1% (95% confidence interval, 1.0%-1.2%); 8 of 830 children tested positive for IgA against tissue transglutaminase (1.0%; 95% confidence interval, 0.4%-1.9%). No typical symptoms or classic consequences of diagnosed celiac disease (diarrhea, anemia, or fracture) were associated with undiagnosed celiac disease. Undiagnosed celiac disease was associated with increased rates of hypothyroidism (odds ratio, 2.2; P < .01) and a lower than average cholesterol level (P = .03) and ferritin level (P = .01). During a median follow-up period of 6.3 years, the cumulative incidence of a subsequent diagnosis with celiac disease at 5 years after testing was 10.8% in persons with undiagnosed celiac disease vs 0.1% in seronegative persons (P < .01). Celiac disease status was not associated with overall survival. Based on serologic tests of a community population for celiac disease, we estimated the prevalence of undiagnosed celiac disease to be 1.1%. Undiagnosed celiac disease appeared to be clinically silent and remained undetected, but long-term outcomes have

  10. Clinical, Dopaminergic, and Metabolic Correlations in Parkinson Disease: A Dual-Tracer PET Study.

    PubMed

    Liu, Feng-Tao; Ge, Jing-Jie; Wu, Jian-Jun; Wu, Ping; Ma, Yilong; Zuo, Chuan-Tao; Wang, Jian

    2018-05-31

    Neuroimaging indicators of Parkinson disease have been developed and applied in clinical practices. Dopaminergic imaging reflects nigrostriatal dopaminergic dysfunction, and metabolic network imaging offers disease-related metabolic changes at a system level. We aimed to elucidate the association between Parkinsonian symptoms and neuroimaging, and interactions between different imaging techniques. We conducted a dual-tracer PET study for the combined assessments of dopaminergic binding (C-CFT) and glucose metabolism (F-FDG) in 103 participants with Parkinson disease (65 male and 38 female subjects). The detailed clinical rating scores were systematically collected in all members. The interactions among dopaminergic bindings, metabolic changes, and clinical manifestations were evaluated at voxel, regional, and network levels. Striatal DAT binding correlated with akinesia-rigidity (P < 0.001) but not with tremor; the metabolic PET imaging, nonspecific to the dopaminergic dysfunction, disclosed a set of brain regions correlating with the cardinal symptoms, including tremor. In addition, the unilateral symptom correlated with the contralateral nigrostriatal dopamine loss, but with bilateral metabolic changes, suggesting their differences in the application of disease-related mechanistic studies. Further imaging-imaging correlation study revealed that dopaminergic dysfunction correlated with widely distributed metabolic changes in Parkinson disease, and the modest correlations supported the findings on the clinical-imaging correlation. In this dual-tracer PET study, we demonstrated the robust interactions among dopaminergic dysfunction, metabolic brain changes and clinical manifestations at voxel, regional, and network levels. Our findings might promote the understanding in the proper application of dopaminergic and metabolic PET imaging in Parkinson disease and offer more evidence in support of Parkinsonian pathophysiological mechanisms.This is an open-access article

  11. Subthalamic Nucleus Stimulation and Dysarthria in Parkinson's Disease: A PET Study

    ERIC Educational Resources Information Center

    Pinto, Serge; Thobois, Stephane; Costes, Nicolas; Le Bars, Didier; Benabid, Alim-Louis; Broussolle, Emmanuel; Pollak, Pierre; Gentil, Michele

    2004-01-01

    In Parkinson's disease, functional imaging studies during limb motor tasks reveal cerebral activation abnormalities that can be reversed by subthalamic nucleus (STN) stimulation. The effect of STN stimulation on parkinsonian dysarthria has not, however, been investigated using PET. The aim of the present study was to evaluate the effect of STN…

  12. Chronic obstructive pulmonary disease in China: a nationwide prevalence study.

    PubMed

    Fang, Liwen; Gao, Pei; Bao, Heling; Tang, Xun; Wang, Baohua; Feng, Yajing; Cong, Shu; Juan, Juan; Fan, Jing; Lu, Ke; Wang, Ning; Hu, Yonghua; Wang, Linhong

    2018-06-01

    Because of the rapid change in economic development and lifestyle in China, and the ageing population, concerns have grown that chronic obstructive pulmonary disease (COPD) could become epidemic. An up-to-date nationwide estimation of COPD prevalence in China is needed. We did a cross-sectional survey of a nationally representative sample of individuals from mainland China aged 40 years or older. The primary outcome was COPD, defined according to the 2017 Global Initiative for Chronic Obstructive Lung Disease (GOLD) lung function criteria. Between Dec 29, 2014, and Dec 31, 2015, 66 752 adults were recruited to the study population. The estimated standardised prevalence of COPD was 13·6% (95% CI 12·0-15·2). The prevalence of COPD differed significantly between men and women (19·0%, 95% CI 16·9-21·2 vs 8·1%, 6·8-9·3; p<0·0001), mainly because of a significant difference in smoking status between men and women (current smokers 58·2% vs 4·0%). The prevalence of COPD differed by geographic region, with the highest prevalence in southwest China (20·2%, 95% CI 14·7-25·8) and the lowest in central China (10·2%, 8·2-12·2). Among adults with COPD, 56·4% (95% CI 53·7-59·2) had mild disease (GOLD stage I), 36·3% (34·3-38·3) had moderate disease (GOLD stage II), 6·5% (5·5-7·4) had severe disease (GOLD stage III), and 0·9% (0·6-1·1) had very severe disease (GOLD stage IV). In a large, nationally representative sample of adults aged 40 years or older, the estimated overall prevalence of COPD in China in 2014-15 was 13·6%, indicating that this disease has become a major public-health problem. Strategies aimed at prevention and treatment of COPD are needed urgently. Chinese Central Government, the Ministry of Science and Technology of The People's Republic of China, and the National Natural Science Foundation of China. Copyright © 2018 Elsevier Ltd. All rights reserved.

  13. Risk factors for decreased bone mineral density in inflammatory bowel disease: A cross-sectional study.

    PubMed

    Wada, Yasuyo; Hisamatsu, Tadakazu; Naganuma, Makoto; Matsuoka, Katsuyoshi; Okamoto, Susumu; Inoue, Nagamu; Yajima, Tomoharu; Kouyama, Keisuke; Iwao, Yasushi; Ogata, Haruhiko; Hibi, Toshifumi; Abe, Takayuki; Kanai, Takanori

    2015-12-01

    Although inflammatory bowel disease (IBD) patients are at risk for metabolic bone disease, studies analyzing this correlation have identified various risk factors, including disease phenotype, age, sex and steroid therapy. Furthermore, few studies have assessed risk factors for bone loss in Japanese IBD patients. This study analyzed risk factors for metabolic bone disease in Japanese IBD patients. This cross-sectional study assessed 388 patients with IBD aged 20-50 years, including 232 with ulcerative colitis (UC) and 156 with Crohn's disease (CD). Bone mineral density of the femoral neck, total femur and lumbar spine was quantified by dual-energy X-ray absorptiometry. The blood concentrations of bone metabolism markers were measured. History of smoking and bone fracture, and nutritional intake were assessed using questionnaires. Of the 388 patients with IBD, 78 (20.1%; UC, 17.2%; CD, 24.4%) had osteopenia and 17 (4.4%; UC, 3.4%; CD, 5.8%) had osteoporosis, as assessed by T-score. Bone mineral density of the lumbar vertebrae was lower in males than in females. Multivariate regression analysis showed that risk factors for bone loss in UC patients were male sex, low body mass index (BMI), high steroid dose and disease location. Risk factors for bone loss in CD patients were male sex and low BMI. Among Japanese patients with IBD, male sex and low BMI were associated with increased risk for metabolic bone disease. In addition, Steroid therapy shouldn't be indiscriminate in UC patients. These findings may help identify patients at particularly high risk of metabolic bone disease and may help implement appropriate therapies in a timely manner and improve long-term quality of life. Copyright © 2015 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  14. Pattern of glomerular disease in the Saudi population: a single-center, five-year retrospective study.

    PubMed

    Nawaz, Z; Mushtaq, F; Mousa, D; Rehman, E; Sulaiman, M; Aslam, N; Khawaja, N

    2013-11-01

    Glomerular diseases continue to be the leading cause of end-stage renal disease (ESRD) globally. Hence, it is important to recognize the pattern of glomerular diseases in different geographical areas in order to understand the patho-biology, incidence and progression of the disorder. Published studies from different centers in Saudi Arabia have reported contradicting results. In this retrospective study, we report our experience at the Armed Forces Hospital, Riyadh, Saudi Arabia. A total of 348 native renal biopsies performed at our center on patients with proteinuria >1 g, hematuria and/or renal impairment during a period of 5 years (between January 2005 and December 2009) were studied by a histopathologist using light microscopy, immunofluorescence and electron microscopy, and were categorized. Results showed that primary glomerular disease accounted for 55.1% of all renal biopsies. The most common histological lesion was focal and segmental glomerulosclerosis (FSGS) (27.6%), followed by minimal change disease (MCD) (17.7%) and membrano-proliferative glomerulonephritis (MPGN) (13.0%). Secondary glomerular disease accounted for 37.9% of the glomerular diseases, with lupus nephritis (LN) being the most common lesion (54.5%), followed by hypertensive nephrosclerosis (22%), post-infectious glomerulonephritis (7.5%), diabetic nephropathy (DN) (6.8%) and vasculitides (4.5%). Four percent of all biopsies turned out to be ESRD while biopsy was inadequate in 2.8% of the cases. In conclusion, our study showed that FSGS was the most common primary GN encountered, while LN was the most common secondary GN. We encountered 14 cases of crescentic glomerulonephritis. Also, the prevalence of MPGN, MCD, IgA nephropathy and membranous GN was many folds higher in males when compared with the Western data. We believe that it is mandatory to maintain a Saudi Arabian Renal Biopsy Registry to understand better the pattern of glomerular disease in the Saudi population and to follow any

  15. Burden of Skin and Subcutaneous Diseases in Iran and Neighboring Countries: Results from the Global Burden of Disease Study 2015.

    PubMed

    Karimkhani, Chante; Dellavalle, Robert P; Karimi, Seyed M; Rahimi-Movaghar, Vafa; Pourmalek, Farshad; Kiadaliri, Aliasghar A; Sahraian, Mohammad Ali; Roshandel, Gholamreza; Fereshtehnejad, Seyed Mohammad; Qorbani, Mostafa; Radfar, Amir; Farvid, Maryam S; Asayesh, Hamid; Sepanlou, Sadaf G; Djalalinia, Shirin; Kasaeian, Amir; Khubchandani, Jagdish; Malekzadeh, Reza; Moradi-Lakeh, Maziar; Krohn, Kristopher J; Mokdad, Ali H; Vos, Theo; Naghavi, Mohsen

    2017-07-01

    Iran and its neighboring countries represent four world regions with unique cultures and geography. Skin diseases span a wide diversity of etiologies including infectious, inflammatory, autoimmune, vascular, neurogenic, and oncologic. The Global Burden of Disease Study (GBD) 2015 measures the burden from skin diseases in 195 countries. Epidemiologic data were collected from literature review, survey data, and hospital inpatient/outpatient claims data. These raw data entered modeling using a Bayesian meta-regression tool, DisMod MR-2.1, which yielded prevalence estimates by age/sex/location/year. Prevalence estimates were combined with disability weights to yield years lived with disability (YLDs). YLDs are combined with years of life lost (YLLs), from mortality estimates, to yield disability-adjusted life years (DALYs). DALYs were obtained for 16 skin conditions and both sexes in Iran and 15 surrounding countries. The sociodemographic index (SDI) for each country was also correlated with skin disease DALY rate using the Pearson coefficient (r) with two-tailed P-value. There was no significant correlation between individual skin diseases and SDI. Acne and dermatitis caused the greatest burden and BCC the lowest burden of skin diseases in Iran and the other 15 countries. SCC and BCC were responsible for the largest discrepancy by sex, with higher burden in males compared to females. Skin diseases, particularly dermatitis and acne, cause considerable burden in Iran and surrounding regions. Objective and transparent epidemiologic data such as GBD has the potential to inform and impact many facets of healthcare, research prioritization, public policy, and international partnerships.

  16. Prevalence of retinal diseases and their pattern in Tehran: the Tehran eye study.

    PubMed

    Hatef, Elham; Fotouhi, Akbar; Hashemi, Hassan; Mohammad, Kazem; Jalali, Kamran Hodjat

    2008-05-01

    To determine the prevalence of retinal diseases and their pattern in Tehran through a population-based study. In 2002, through a stratified random cluster sampling, 6497 citizens representing a cross-section of the population of Tehran were selected from 160 clusters. Eligible people were recruited through a door-to-door household survey in selected clusters and transferred to a clinic for an extensive eye examination and interview. The prevalence of retinal diseases was 8.56 per 100 (95% CI, 7.74-9.39). Acquired retinopathies (3.33 per 100) and peripheral retinal lesions (3.29 per 100) were the most common retinal diseases in our population. Cataract (12.47 per 100) was the major ocular comorbidity; high blood pressure (21.14 per 100) and diabetes mellitus (15.99 per 100) were the main systemic comorbidities among 415 patients with retinal diseases. The prevalence of low vision on the basis of best-corrected and presenting visual acuity was 0.63 and 2.87 per 100 in 415 patients with retinal disease. Two patients (0.48 per 100) were blind with corrected and presenting visual acuity. The prevalence of diabetic retinopathy in the studied population was 0.61 per 100 (95% CI, 0.39-0.82) and age-related macular degeneration was detected in 1.95 per 100 (95% CI, 1.55-2.34) of the population. These findings reveal a considerable prevalence of retinal diseases in the population. The prevalence might be underestimated due to the lack of fundus photography. The findings could be considered for case finding and planning treatment programs for specific retinal diseases.

  17. Gene expression levels as endophenotypes in genome-wide association studies of Alzheimer disease

    PubMed Central

    Zou, F.; Carrasquillo, M. M.; Pankratz, V. S.; Belbin, O.; Morgan, K.; Allen, M.; Wilcox, S. L.; Ma, L.; Walker, L. P.; Kouri, N.; Burgess, J. D.; Younkin, L. H.; Younkin, Samuel G.; Younkin, C. S.; Bisceglio, G. D.; Crook, J. E.; Dickson, D. W.; Petersen, R. C.; Graff-Radford, N.; Younkin, Steven G.; Ertekin-Taner, N.

    2010-01-01

    Background: Late-onset Alzheimer disease (LOAD) is a common disorder with a substantial genetic component. We postulate that many disease susceptibility variants act by altering gene expression levels. Methods: We measured messenger RNA (mRNA) expression levels of 12 LOAD candidate genes in the cerebella of 200 subjects with LOAD. Using the genotypes from our LOAD genome-wide association study for the cis-single nucleotide polymorphisms (SNPs) (n = 619) of these 12 LOAD candidate genes, we tested for associations with expression levels as endophenotypes. The strongest expression cis-SNP was tested for AD association in 7 independent case-control series (2,280 AD and 2,396 controls). Results: We identified 3 SNPs that associated significantly with IDE (insulin degrading enzyme) expression levels. A single copy of the minor allele for each significant SNP was associated with ∼twofold higher IDE expression levels. The most significant SNP, rs7910977, is 4.2 kb beyond the 3′ end of IDE. The association observed with this SNP was significant even at the genome-wide level (p = 2.7 × 10−8). Furthermore, the minor allele of rs7910977 associated significantly (p = 0.0046) with reduced LOAD risk (OR = 0.81 with a 95% CI of 0.70-0.94), as expected biologically from its association with elevated IDE expression. Conclusions: These results provide strong evidence that IDE is a late-onset Alzheimer disease (LOAD) gene with variants that modify risk of LOAD by influencing IDE expression. They also suggest that the use of expression levels as endophenotypes in genome-wide association studies may provide a powerful approach for the identification of disease susceptibility alleles. GLOSSARY AD = Alzheimer disease; CI = confidence interval; GWAS = genome-wide association study; LOAD = late-onset Alzheimer disease; mRNA = messenger RNA; OR = odds ratio; SNP = single nucleotide polymorphism. PMID:20142614

  18. Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population.

    PubMed

    Owen, Catherine J; Eden, James A; Jennings, Claire E; Wilson, Valerie; Cheetham, Tim D; Pearce, Simon H S

    2006-08-01

    Regulatory T lymphocytes play a crucial role in modulating potentially self-reactive clones, and dysfunction of this cell type contributes to autoimmune disease. FOXP3 is a critical determinant of CD(4+)CD(25+)T regulatory (T(reg)) cell development and function. The aim of this study was to investigate whether genetic polymorphisms at the FOXP3 locus predispose to autoimmune endocrinopathies. Five single nucleotide polymorphisms (SNPs) and two microsatellite polymorphisms were genotyped in our Caucasian cohorts of 633 unrelated Graves' disease (GD) subjects, 104 autoimmune Addison's disease (AAD) subjects and 528 healthy controls. SNP genotyping was performed by either restriction enzyme digestion or by primer-extension-MALDI-TOF (matrix-assisted laser desorption/ionisation time-of-flight) assay. Microsatellites were analysed using fluorescent PCR. Case-control analysis was performed using chi(2) testing on contingency tables for allele frequency. Haplotype analysis was performed using the UNPHASED package. No evidence for disease association was found with any of the seven polymorphisms in either of the GD or AAD subjects as compared with controls (P = 0.26-0.94). Haplotype analysis found a weak evidence for the association of a minor haplotype with GD; this was not significant when corrected for multiple testing. This study has found no robust evidence that FOXP3 gene polymorphism contributes to the susceptibility to GD or AAD in the UK population.

  19. A content validity study of signs, symptoms and diseases/health problems expressed in LIBRAS1

    PubMed Central

    Aragão, Jamilly da Silva; de França, Inacia Sátiro Xavier; Coura, Alexsandro Silva; de Sousa, Francisco Stélio; Batista, Joana D'arc Lyra; Magalhães, Isabella Medeiros de Oliveira

    2015-01-01

    Objectives: to validate the content of signs, symptoms and diseases/health problems expressed in LIBRAS for people with deafness Method: methodological development study, which involved 36 people with deafness and three LIBRAS specialists. The study was conducted in three stages: investigation of the signs, symptoms and diseases/health problems, referred to by people with deafness, reported in a questionnaire; video recordings of how people with deafness express, through LIBRA, the signs, symptoms and diseases/health problems; and validation of the contents of the recordings of the expressions by LIBRAS specialists. Data were processed in a spreadsheet and analyzed using univariate tables, with absolute frequencies and percentages. The validation results were analyzed using the Content Validity Index (CVI). Results: 33 expressions in LIBRAS, of signs, symptoms and diseases/health problems were evaluated, and 28 expressions obtained a satisfactory CVI (1.00). Conclusions: the signs, symptoms and diseases/health problems expressed in LIBRAS presented validity, in the study region, for health professionals, especially nurses, for use in the clinical anamnesis of the nursing consultation for people with deafness. PMID:26625991

  20. A 5-Year Follow-up Study on the Relationship between Obstructive Sleep Apnea and Parkinson Disease.

    PubMed

    Sheu, Jau-Jiuan; Lee, Hsin-Chien; Lin, Herng-Ching; Kao, Li-Ting; Chung, Shiu-Dong

    2015-12-15

    Sleep disturbances are among the most common nonmotor symptoms of Parkinson disease. However, no large epidemiological data regarding the association between obstructive sleep apnea (OSA) and Parkinson disease have been reported. The goal of this study was to investigate the risk for Parkinson disease during a 5-y follow-up period after a diagnosis of OSA using a population-based dataset. The data for this retrospective longitudinal cohort study were retrieved from the Taiwan Longitudinal Health Insurance Database 2000. We identified 1,532 patients with OSA as the study cohort and randomly selected 7,660 patients as the comparison cohort. Each subject was individually followed up for a 5-y period to identify those in whom Parkinson disease subsequently developed. Stratified Cox proportional hazard regressions were performed as a means of comparing the 5-y risk of subsequent Parkinson disease between the study cohort and comparison cohort. Of the 9,192 total patients, Parkinson disease developed in 0.73% during the 5-y follow-up period: 1.24% and 0.63% in the OSA and control cohorts, respectively. After censoring patients who died during the follow-up period and adjusting for socio-demographic characteristics, the hazard ratio (HR) of Parkinson disease during the 5-y follow-up period for patients with OSA was 2.26 (95% confidence interval [CI] = 1.32-3.88) compared with comparison patients. In addition, among females, the adjusted HR of Parkinson disease was 3.54 (95% CI = 1.50-8.34) for patients with OSA compared to patients without OSA. However, among males, there was no significantly increased hazard of Parkinson disease for patients with OSA compared to those without OSA. Female patients with OSA were found to be at a significant risk of subsequent Parkinson disease during a 5-y follow-up period. © 2015 American Academy of Sleep Medicine.