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Sample records for diseases mycoses study

  1. 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

    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

    2008-09-01

    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.

  2. 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.

  3. [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.

  4. Revised Definitions of Invasive Fungal Disease from 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) Consensus Group

    PubMed Central

    De Pauw, Ben; Walsh, Thomas J.; Donnelly, J. Peter; Stevens, David A.; Edwards, John E.; Calandra, Thierry; Pappas, Peter G.; Maertens, Johan; Lortholary, Olivier; Kauffman, Carol A.; Denning, David W.; Patterson, Thomas F.; Maschmeyer, Georg; Bille, Jacques; Dismukes, William E.; Herbrecht, Raoul; Hope, William W.; Kibbler, Christopher C.; Kullberg, Bart Jan; Marr, Kieren A.; Muñoz, Patricia; Odds, Frank C.; Perfect, John R.; Restrepo, Angela; Ruhnke, Markus; Segal, Brahm H.; Sobel, Jack D.; Sorrell, Tania C.; Viscoli, Claudio; Wingard, John R.; Zaoutis, Theoklis; Bennett, John E.

    2009-01-01

    Background Invasive fungal diseases are important causes of morbidity and mortality. Clarity and uniformity in defining these infections are important factors in improving the quality of clinical studies. A standard set of definitions strengthens the consistency and reproducibility of such studies. Methods After the introduction of the original 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 Group definitions, advances in diagnostic technology and the recognition of areas in need of improvement led to a revision of this document. The revision process started with a meeting of participants in 2003, to decide on the process and to draft the proposal. This was followed by several rounds of consultation until a final draft was approved in 2005. This was made available for 6 months to allow public comment, and then the manuscript was prepared and approved. Results The revised definitions retain the original classifications of “proven,” “probable,” and “possible” invasive fungal disease, but the definition of “probable” has been expanded, whereas the scope of the category “possible” has been diminished. The category of proven invasive fungal disease can apply to any patient, regardless of whether the patient is immunocompromised, whereas the probable and possible categories are proposed for immunocompromised patients only. Conclusions These revised definitions of invasive fungal disease are intended to advance clinical and epidemiological research and may serve as a useful model for defining other infections in high-risk patients. PMID:18462102

  5. Mycoses and Mycotoxicoses

    USDA-ARS?s Scientific Manuscript database

    Mold-related disease in avian species can be divided into two broad categories, namely mycoses and mycotoxicoses. Mycoses are typically defined as infection of tissue by a particular mold species. In general terms, Aspergillus, Dactylaria, and Microsporum are those molds most apt to be responsible f...

  6. LABORATORY-ACQUIRED MYCOSES

    DTIC Science & Technology

    laboratory- acquired mycoses . Insofar as possible, the etiological fungus, type of laboratory, classification of personnel, type of work conducted, and other...pertinent data have been listed in this study. More than 288 laboratory- acquired mycoses are described here, including 108 cases of

  7. Epidemiology of superficial mycoses in Northern Greece: a 4-year study.

    PubMed

    Nasr, A; Vyzantiadis, T A; Patsatsi, A; Louka, A; Ioakimidou, A; Zachrou, E; Chavale, A; Kalabalikis, D; Malissiovas, N; Sotiriadis, D

    2016-05-01

    Superficial mycoses are defined as the fungal infections of skin, hair or nails that are caused by dermatophytes, yeasts and non-dermatophytic moulds. Dermatophytes are the most frequently isolated fungi from specimens of patients with superficial mycoses. Studying the possible alteration of the epidemiology of superficial mycoses in Northern Greece during the last two to three decades. Data concerning the superficial mycoses from patients coming mainly from the region of Macedonia, Northern Greece, between January 2010 and January 2014 were recorded and analysed. They included specimens from 438 patients (146 M/292 F), within an age range of 2-85 years old. 503 samples were collected from skin (81, 16.1%), hair (18, 3.6%) and nails (fingernails 84, 16.7%, toenails 320, 63.6%) lesions. Of a total of 222 positive cultures, 50 were considered as yielding clinically non-significant isolates (saprophytes). Among the rest (172), dermatophytes were the most prevalent isolates (102, 59.3%), followed by yeasts (51, 29.7%) and non-dermatophytic moulds (19, 11%). Trichophyton rubrum (55, 53.9%), Trichophyton mentagrophytes (18, 17.6%) and Microsporum canis (23, 22.5%) were the most common isolates among dermatophytes (total = 102). Candida parapsilosis (26, 51%), and Candida albicans (10, 19.6%) among yeasts (total = 51) whereas Fusarium (6, 31.6%) and Acremonium species (3, 15.8%) among the non-dermatophytic moulds (total=19). Compared to previous studies from Northern Greece, the epidemiology of superficial mycoses in the specific geographic region seems not to have been altered the last two to three decades. © 2015 European Academy of Dermatology and Venereology.

  8. 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

  9. Subcutaneous mycoses: an aetiological study of 15 cases in a tertiary care hospital at Dibrugarh, Assam, northeast India.

    PubMed

    Bordoloi, Pallabi; Nath, Reema; Borgohain, Mondita; Huda, M M; Barua, Shyamanta; Dutta, Debajit; Saikia, Lahari

    2015-06-01

    Subcutaneous mycoses are a group of fungal infections of dermis and subcutaneous tissue which consist of sporotrichosis, chromoblastomycosis, phaeohyphomycosis, hyalohyphomycosis, mycetoma, subcutaneous zygomycosis, rhinosporidiosis, lobomycosis and disseminated penicilliosis. A total of 46 consecutive patients with clinically suspected subcutaneous mycoses attending various departments of Assam Medical College and Hospital were included in this prospective study to know the prevalence of subcutaneous mycoses in this eastern part of Assam. Direct microscopy in 10 and 40 % KOH, histopathological examination of biopsied tissue, colony characteristics on Sabourauds dextrose agar media both at 25 and 37 °C and detailed morphology of each fungus on lactophenol cotton blue mount were the basis of identification of the fungi. Subcutaneous mycoses were confirmed in 32.6 % (n = 15) cases. Out of 15 positive cases of subcutaneous mycoses, chromoblastomycosis was detected in six cases (n = 40 %), hyalohyphomycosis in three cases (n = 20 %), and lymphocutaneous sporotrichosis, disseminated penicilliosis and mycetoma in two cases each (n = 13.3 % each). In this study, seven different species of fungus were found to be responsible for five different clinical types of subcutaneous mycosis. Cladosporium cladosporioides, Bipolaris spicifera and Curvularia lunata were responsible for chromoblastomycosis, Fusarium oxysporum and Aspergillus terreus for hyalohyphomycosis, C. lunata for mycetoma, Sporothrix schenckii for lymphocutaneous sporotrichosis and Penicillium marneffei for disseminated penicilliosis. C. cladosporioides and C. lunata were the commonest black fungi causing subcutaneous mycosis in this sub-Himalayan belt. Rare species C. cladosporioides, B. spicifera and C. lunata were found to be causing chromoblastomycosis in this study.

  10. Causative agents of superficial mycoses in Istanbul, Turkey: retrospective study.

    PubMed

    Koksal, Fatma; Er, Emine; Samasti, Mustafa

    2009-09-01

    The aim of the present study was to determine the percentage of agents, which can give rise to superficial fungal infections in Istanbul, Turkey. Between 2000 and 2007, the clinical samples collected from 8,200 patients attending the outpatient Dermatology Clinic at Mihrimahsultan Medical Center were examined by direct microscopy and culture. Pathogen fungi were detected in 5,722 of the patients. Of the isolates were 4,218 (74%) dermatophytes, 1,196 (21%) Candida sp., 170 (3%) Malassezia furfur, and 138 (2%) Trichosporon sp. Among the dermatophytes, Trichophyton sp. was the most common isolate followed by Epidermophyton floccosum (243) and Microsporum sp. Among the Candida species, C. albicans (549) was also frequently found. Onychomycosis was the most prevalent type of infection, followed by tinea pedis, tinea cruris, tinea corporis, and tinea capitis. In conclusion, our study showed that the most common isolated agents from superficial infections were T. rubrum being Candida sp. the second most prevalent.

  11. Need for alternative trial designs and evaluation strategies for therapeutic studies of invasive mycoses.

    PubMed

    Rex, J H; Walsh, T J; Nettleman, M; Anaissie, E J; Bennett, J E; Bow, E J; Carillo-Munoz, A J; Chavanet, P; Cloud, G A; Denning, D W; de Pauw, B E; Edwards Jr, J E; Hiemenz, J W; Kauffman, C A; Lopez-Berestein, G; Martino, P; Sobel, J D; Stevens, D A; Sylvester, R; Tollemar, J; Viscoli, C; Viviani, M A; Wu, T

    2001-07-01

    Studies of invasive fungal infections have been and remain difficult to implement. Randomized clinical trials of fungal infections are especially slow and expensive to perform because it is difficult to identify eligible patients in a timely fashion, to prove the presence of the fungal infection in an unequivocal fashion, and to evaluate outcome in a convincing fashion. Because of these challenges, licensing decisions for antifungal agents have to date depended heavily on historical control comparisons and secondary advantages of the new agent. Although the availability of newer and potentially more effective agents makes these approaches less desirable, the fundamental difficulties of trials of invasive fungal infections have not changed. Therefore, there is a need for alternative trial designs and evaluation strategies for therapeutic studies of invasive mycoses, and this article summarizes the possible strategies in this area.

  12. [Epidemiological and clinical profile of superficial mycoses in the Monastir region (Tunisia). Retrospective study (1991-1994) of 3578 cases].

    PubMed

    Khorchani, H; Haouet, H; Amri, M; Zanned, I; Babba, H; Azaiz, R

    1996-01-01

    Despite of socio-economical improvement in our population and the efficacy of available antifungal treatment, superficial mycoses remain a common condition in dermatologic practice. To determine the epidemio-clinical pattern of superficial mycoses in our region, a retrospective study of 3578 cases have been carried out in the Department of Dermatology of the University Hospital of Monastir during a 4 year-period. The mean age of patients was 33 years (range: 6 months-91 years). The male to female sex-ratio was 0.82. Rural origin, history of previous mycoses, diabetes, topic or systemic corticosteroids and the presence of animals in surroundings were the most predisposing factors. The most frequent clinical patterns were: tinea corcoris and pedis (40.3%), Tinea versicolor (21.6%), Tinea capitis (9.7%) dermatophytosis of hairless skin (9.6%) and onychomycosis (8.6%). Dermatophyte was the most frequent (55.5%). The occurrence of superficial mycose especially if it affects diffuse area of the body, or if it is relapsing and resistant to treatment, requires looking for predisposing factors.

  13. Respiratory and systemic mycoses: an overview.

    PubMed

    Randhawa, H S

    2000-01-01

    Respiratory and systemic mycoses are globally emerging as a problem of increasing importance in infectious diseases. This is attributed to the growing population of immunocompromised patients due to epidemic outbreak of AIDS or to other factors such as use of immunosuppressive drugs in recipients of organ transplantation. The available evidence has unequivocally established the endemic occurrence of blastomycosis, histoplasmosis and penicilliosis mameffei in India. In fact, pencilliosis marneffei has emerged as a major endemic mycosis of AIDS patients in Southeast Asia. It has manifestations simulating those of histoplasmosis capsulati, and it may spread to other regions with enlarging population of AIDS patients. Comprehensive studies are indicated in order to delineate the endemic areas of the afore-mentioned systemic mycoses. Among the other important systemic mycoses reported from India are aspergillosis, cryptococcosis, candidiasis and zygomycosis. Our current knowledge of the global distribution of systemic mycoses does not depict their true prevalence. It largely reflects the geographic distribution of medical mycologists or other investigators engaged in the study of fungal diseases and their research interests. Invasive aspergillosis has emerged as an important disease in patients with neutropenia and bone narrow transplant recipients, cryptoccosis, penicilliosis marneffei and pneumocystosis in patients with AIDS, fusariosis in patients with leukaemia receiving cytotoxic therapy, zygomycosis in diabetic patients and in patients on defroxamine therapy, and Malasseziafurfur infection in patients on total parenteral nutrition: Opportunistic systemic mycoses due to yeasts and yeast-like fungi have become commoner than those due to filamentous fungi, occupying fourth position in the list of bloodstream pathogens in some centers in USA. Also, their incidence, pattern of clinical presentations and species spectrum have significantly changed, largely due to more

  14. [Causative agents of superficial mycoses isolated in Dakar, Senegal: Retrospective study from 2011 to 2015].

    PubMed

    Diongue, K; Diallo, M A; Ndiaye, M; Badiane, A S; Seck, M C; Diop, A; Ndiaye, Y D; Ndiaye, D

    2016-12-01

    Superficial fungal infections, particularly of the skin, scalp and nails are very common and have been reported worldwide. The most common causative agents of these mycoses are dermatophytes, yeasts and molds. However, these agents vary with time and depend on many factors including the geography. The objective of this study was to identify the causative agents of superficial mycoses diagnosed at the Le Dantec University Hospital in Dakar (Senegal). The study concerned 1851 outpatients received in the parasitological and mycological laboratory of Le Dantec hospital during the period from January 2011 to December 2015. Every patient benefited from direct examination and mycological culture. Among the 1851 patients, 633 were confirmed with superficial mycoses and the prevalence was 34.2 %. The age of patients ranged from two months to 81 years with a mean age of 31 years. Superficial mycoses were found more in women (70.3 %) than men (29.7 %) and a little more than thirty-nine percent (39.3 %) were adults. The causative agents identified were: dermatophytes (58 %), yeast (36.7 %) and non-dermatophytic filamentous fungi (NDFF, 5.3 %). The most isolated species were: Candida albicans (26.9 %), Trichophyton soudanense (24.9 %) and T. rubrum (13.7 %). These fungi were responsible for different clinical aspects, isolated and other associated. Among the isolated clinical aspects, those affecting hair (tinea capitis) were by far the largest with 44.8 %, followed by tinea unguium (34.5 %). Associations were especially type of tinea capitis and tinea manuum (2.4 %) and toenails onychomycosis associated with interdigital tinea pedis (2.7 %). Tinea capitis agents were exclusively dermatophytes and the predominant agent was T. soudanense with 47,8 %. Tinea unguium agents were yeast (79 %), dermatophytes (18 %) or NDFF (3 %) and the most found species was C. albicans (63.9 %). Dermatophytes, yeasts and molds were respectively found more in children and

  15. 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.

  16. [Intra-abdominal mycoses].

    PubMed

    Boos, C; Kujath, P; Bruch, H-P

    2005-01-01

    The incidence of invasive mycoses in patients undergoing abdominal surgery amounts to approximately 8% and shows an upward trend in epidemiological studies. The lethality of these systemic mycoses, which are mostly based on Candida infections constitutes up to 60%. The development of a sytemic mycosis is marked by exogenic, endogenic and iatrogenic risk factors and typically displays tissue invasion after an initial fungal contamination or systemic dissemination via fungal sepsis. Fungal peritonitis is generally a monoinfection with Candida spp., where Candida albicans outweighs in 70% of cases. Aspergillus spp. are only detected abdominally in rare cases. The histological verification of a fungal invasion is regarded as proof of the existence of an invasive mycosis, but typical macroscopic findings with corresponding cultural findings can also confirm the diagnosis. Systemic mycosis requires an early initiation of a consistent antimycotic therapy as well as definitive surgical eradication of the focus in order to reduce high lethal rate. Resistances or incorrect dosages can be validated objectively by means of histological monitoring of the antimycotic therapy, thus affording early recognition of the need to change the substance class.

  17. [Mycoses in domestic animals].

    PubMed

    García, M E; Blanco, J L

    2000-03-01

    In the present paper we will present a general view of the main mycoses affecting domestic animals. In the dog, we show the importance of the dermatophytoses, increased by its zoonosic character and the problem of the false negatives in the traditional microbiological culture. Under the general term of systemic mycoses we include a series of conditions considered usually as aspergillosis, bat with more and more fungal species implicated as possible etiological agents. In addition, fungi, especially yeasts, are being implicated in canine otitis; in our laboratory 86 % of canine chronic otitis involve a yeast etiology, alone or in collaboration with bacteria. In the cat, dermatophytes are more common than in the dog, and are the main source of infection in man, with the description of a high percentage of healthy carrier animals. Cryptococcosis is a severe disease, usually secondary to other process, especially feline immunodeficiency. In cows we refer to fungal abortion, with three main fungi implicated: Aspergillus, Candida and Zygomycetes. In some areas of our country the percentage of fungal abortion is around 10 %. A consequence of the multiple use of antibiotics in mastitis is selection of yeasts, especially those included in the genera Candida and Cryptococcus. Bovine dermatophytoses is an extensively disseminated disease in our country, with a commercial specific vaccine available. In small ruminants, Cryptococcus causes severe pneumonic processes that could be confused clinically with other conditions. An additional important question is the description of isolation of this fungus from tree leaves. In poultry, aspergillosis is a known and controlled disease, but with more importance in captive wild birds with an ecological value. In horses, we emphasize the lung infections by different fungi, specially Pneumocystis carinii, and arthritis by yeasts as consequence of wound contamination or surgery.

  18. The trend of imported mycoses in Japan.

    PubMed

    Kamei, Katsuhiko; Sano, Ayako; Kikuchi, Ken; Makimura, Koichi; Niimi, Masakazu; Suzuki, Kazuo; Uehara, Yoshimasa; Okabe, Nobuhiko; Nishimura, Kazuko; Miyaji, Makoto

    2003-03-01

    Pathogenic fungi that are non-native in Japan are highly virulent and present a significant health hazard to persons in the environment into which they are introduced. Little is known, however, about the precise trend of infection by imported mycoses in Japan. To clarify this issue, all available cases were collected through a search of MEDLINE and Japana Centra Revuo Medicine and analyzed. Also included in this analysis were cases not reported in the literature for which the authors provided identification of the fungi, diagnosis, or treatment. The analysis revealed that, for three diseases, the number of imported mycoses cases in Japan is much higher than previously reported: 31 cases of coccidioidomycosis, 34 cases of histoplasmosis, and 17 cases of paracoccidioidomycosis. Additionally, one case of penicilliosis marneffei was found. The most rapid increase in the incidence of these mycoses occurred from 1991 to 1995. Analysis of the patients' profiles provided the following information: (1) coccidioidomycosis infection in Japan is increasing very rapidly, (2) Japan might be an endemic area of histoplasmosis infection, (3) histoplasmosis is a potentially fatal disease; and (4) reliable serodiagnostic methods have been used only infrequently. Because of the increase of international travel and immigration, the incidence of imported mycoses in Japan is expected to continue rising, and mycoses that have never been reported in Japan, such as blastomycosis, might also be encountered in the near future. To cope with this newly emerging health problem to residents of Japan, the Japanese medical system must train its members to identify and treat mycoses.

  19. The prevalence of skin eruptions and mycoses of the buttocks and feet in aged care facility residents: a cross-sectional study.

    PubMed

    Nakagami, Gojiro; Takehara, Kimie; Kanazawa, Toshiki; Miura, Yuka; Nakamura, Tetsuro; Kawashima, Makoto; Tsunemi, Yuichiro; Sanada, Hiromi

    2014-01-01

    The prevalence of skin mycoses in the elderly remains unclear. The proportion of people with skin eruptions who are positive for mycoses using direct microscopy is not known. The purpose of this study is to identify the prevalence of skin eruptions and skin mycoses (e.g. candidiasis and tinea) in the buttocks and feet, which are common sites of skin mycoses in residents of long-term care facilities. This multi-site cross-sectional study used visual inspection and direct microscopy to diagnose the type of skin eruption. Subjects were residents of facilities covered by long-term care insurance schemes in Japan. Of the 171 residents enrolled in this study, 72.5% had a skin eruption. Only 4.8% of participants had tinea in the buttocks; 2.4% had buttock candidiasis. In those with a nail abnormality, 58.3% of residents had tinea unguium. For tinea pedis, residents who had any form of interdigital or plantar region skin eruption, 22.5% and 31.4% of residents were positive, respectively. The prevalence of observed skin mycoses was: buttock candidiasis 1.8%; buttock tinea 3.5%; tinea unguium 56.2%; interdigital tinea pedis 20.5%; and plantar tinea pedis 22.5%. The very low proportion of residents with mycoses in the buttocks suggests that anti-inflammatory agents, such as steroids, should be used as first choice. Our observation that not all residents with skin eruptions on the feet had tinea, should remind clinicians to perform direct microscopy before initiating antifungal treatments.

  20. 21-year retrospective study of the prevalence of Scopulariopsis brevicaulis in patients suspected of superficial mycoses

    PubMed Central

    Macura, Anna B.

    2015-01-01

    Introduction In the genus Scopulariopsis, Scopulariopsis brevicaulis is the most common aetiological agent of infections in humans. It usually affects nails and is one of the commonest moulds associated with onychomycoses. Other forms of infections (skin, subcutaneous, deep tissues, and disseminated infections) have also been described. Aim To examine the prevalence of S. brevicaulis in clinical materials obtained from patients suspected of keratinized tissues mycoses. Material and methods The analysis of the prevalence of S. brevicaulis in clinical specimens was based on mycological test's results carried out for patients who were referred with a suspicion of superficial mycoses to the Department of Mycology, Chair of Microbiology, Jagiellonian University Medical College from 1992 till 2012. Results In the years 1992–2012 16,815 clinical samples (nail scrapings, nail swabs, skin scrapings, skin swabs, hair) were collected. Pathogenic fungi were detected in 7193 samples and S. brevicaulis was present in 255 (3.5%). The prevalence of S. brevicaulis in males and females was comparable. The species was most often isolated from toenails (80%), both from males and females. In the analysed period we observed a decrease in the prevalence of S. brevicaulis. In most cases (60%) S. brevicaulis occurred alone in 40% of S. brevicaulis positive cultures, other fungi were also isolated. The fungi most frequently isolated with S. brevicaulis were Trichophyton rubrum, T. mentagrophytes, Penicillium sp., Candida sp., and Aspergillus sp. Conclusions Scopulariopsis brevicaulis is not a common cause of superficial fungal infections of keratinized tissues, but is a typical mould associated with toenail onychomycosis. A proper identification of this species in onychomycoses is essential for the implementation of effective antifungal therapy. PMID:26161060

  1. [Mycoses at Hospital Universitario "Ruiz y Páez", Ciudad Bolívar, Venezuela, 2002].

    PubMed

    Cermeño, Julman R; Hernández, Isabel; Godoy, Gerardo; Cabello, Ismery; Cermeño, Julmery J; Orellán, Yida; Blanco, Ytalia

    2005-03-01

    To estimate the prevalence of mycoses in the Universitary Hospital "Ruiz y Páez" (Bolivar State, Venezuela) during 2002, a retrospective study was carried out. Four hundred and fifty six mycoses were diagnosed in 250,956 patients. The most frequent mycoses, the cutaneous form (94.5%), were produced by dermatophytes, Malassezia furfur and Candida spp. in 90%. Deep mycoses were detected in 4.7% and consisted of histoplasmosis (2.6%), paracoccidioidomycosis (1.7%) and cryptococcosis (0.4%). Several patients with deep mycoses presented HIV infection, tuberculosis and hematological disorders (neoplasias among them). The frequency of mycoses in the general population that attend the Hospital Universitario "Ruiz y Páez" is low, superficial mycoses are predominant, and some conditions seem to predispose to deep mycoses.

  2. [Epidemiology of Visceral Mycoses in Autopsy Cases in 2011].

    PubMed

    Suzuki, Yuhko; Ohto, Hitoshi; Togano, Tomiteru; Kume, Hikaru

    2015-01-01

    To identify recent trends in the frequency of mycoses in autopsy cases, we performed an epidemiological analysis using the data reported in the "Annual Report of Autopsy Cases in Japan" from 2011. 12,339 cases were autopsied, of which 608 (4.9 %) were found to have fungal infections. Of these, 411 cases (67.6 %) were male, the median age was 67, and 353 cases were severe (58.1 %). Aspergillus spp. was the most predominant causative agent among those infected with one pathogen. These data corroborate our previous data from reports in 2007 and 2009. For the first time since 1989, we observed a case of mycoses caused by Exophiala spp. with adult T cell leukemia and lymphoma. The types of underlying disease were also typical of that in our previous analysis in 2009. These included solid cancers in 124 cases (20.4 %), leukemia in 83 cases (13.7 %), bacterial infections such as pneumonia 69 cases (11.3 %) and malignant lymphoma in 66 cases (10.9 %). In 2011, the number of mycoses following solid organ transplantation totaled 12 cases and was the most numerous since 2005. A limitation of this study may be that the epidemiology of autopsied cases includes the more severe end of the fungal infection spectrum, and selection bias could not be ruled out. Nonetheless, this epidemiological analysis of autopsied cases with fungal infection provides a strong incentive to intensify and improve efforts in diagnosing and treating visceral mycosis.

  3. Host defenses in subcutaneous mycoses.

    PubMed

    Vera-Cabrera, Lucio; Salinas-Carmona, Mario Cesar; Waksman, Noemi; Messeguer-Pérez, Jonathan; Ocampo-Candiani, Jorge; Welsh, Oliverio

    2012-01-01

    Subcutaneous mycoses include diverse clinical syndromes, characterized by invasion of the skin and subcutaneous tissue by saprobic fungi. Individuals living in rural areas constantly suffer lesions or trauma; however, only a few of them develop disease. In this contribution, we describe recent advances in the understanding of the virulence of these organisms, focusing on the most prevalent infections, sporotrichosis, chromoblastomycosis, and mycetoma. Although these infectious diseases are considered neglected tropical diseases, modern molecular techniques have been able to identify the etiologic agents and observe variations in the former monolithic concept of the species, which was based mostly on morphologic characteristics. The complete genetic characterization of the causative agents, along with that of their host, will help in the understanding of the factors on which the development of these infections depends.

  4. [Epidemiological status of mycoses in the Argentine Republic].

    PubMed

    Davel, G; Canteros, C E

    2007-01-01

    We herein report the results of a retrospective nationwide survey on mycoses diagnosed between January and December, 2004. The study included data provided by 72 laboratories located in 19 provinces and in Buenos Aires City. Out of 801,805 microbiological specimens processed that year, only 62,681 (8%) were submitted to mycological studies. A total of 23,600 mycoses cases were diagnosed: 11,107 (47%) superficial mycoses, 10,830 (46%) mucosal candidiasis and 1,663 (7%) deep mycoses. Relative frequencies of superficial mycoses did not differ significantly (p > 0.05) from frequencies observed in a previous study covering Buenos Aires City and Province (1993), and from two countrywide surveys conducted by the National Network of Mycology Laboratories and National Quality Control Program (NNML and NQCP) in 1999 and 2002. The most frequent deep mycoses were yeast fungaemia (34%), cryptococcosis (20%), broncho-pulmonary aspergillosis (13%), histoplasmosis (11%), paracoccidioidomycosis (7%) and pneumocystosis (5%). In contrast with results of four previous nationwide studies on broncho-pulmonary mycoses including a survey performed by NNML and NQCP in 2002, our study revealed that histoplasmosis prevailed over paracoccidioidomycosis, thus ranking for the first time as the most frequent endemic mycosis in Argentina.

  5. Rare mycoses of the oral cavity: a literature epidemiologic review.

    PubMed

    Iatta, Roberta; Napoli, Christian; Borghi, Elisa; Montagna, Maria Teresa

    2009-11-01

    Stomatologic fungal infections display different etiologies, pathogenesis, and clinical presentations. The incidence of rare mycoses of oral cavity is very low. These infections can involve both immunocompromised and immmunocompetent patients with common predisposing factors, such as diabetes or suffering from diseases causing immune system impairment. Oral mycoses can cause acute, chronic, and mucocutaneous lesions. Candidiasis is the most common mouth mycosis. Although occasionally primary mouth pathogens, Cryptococcus spp. or filamentous fungi (Aspergillus spp. and zygomycetes) can cause oral mycoses, with the oral localization more commonly secondary to a more serious systemic infection. The diagnosis of oral mycoses is based on clinical examination; for yeasts, culture is necessary to identify the etiologic agents; for filamentous fungi, in particular for zygomycetes and dimorphic, a definitive diagnosis can be made by histologic examination and pertinent stains with or without isolation of the fungus from the same site.

  6. Etiological agents of superficial mycoses in Kayseri, Turkey.

    PubMed

    Kayman, T; Sarıgüzel, F M; Koç, A N; Tekinşen, F K

    2013-07-01

    In this study, we aimed to determine the prevalence of agents that cause superficial mycoses and clinical types of superficial mycoses in terms of age and gender in our region were aimed. Five hundred samples of nails, skin and skin with hair taken from 476 children and adult patients pre-diagnosed with superficial mycoses were examined by direct microscopy and cultural methods between October 2009 and October 2010. Fungal elements were determined in 212 (42.4%) of the samples by using direct microscopy. Fungal growth was detected in 111 (22.2%) cultures of the same samples. It was found that the most common agents in superficial mycoses were Trichophyton rubrum (43.7%), Candida spp. (28%) and less often, Aspergillus spp., Malassezia spp., Saccharomyces spp., Rhodotorula spp., Trichosporon spp. and Trichophyton verrucosum. The significance of diagnosis by using direct microscopy and culturing together was again shown for the diagnosis of superficial fungal infections that follow a chronic course and affect the quality of life of patients. The most common agents in the superficial mycoses were T. rubrum. With this study, defining the aetiological agents of superficial mycoses in the Kayseri region is expected to contribute to the literature in terms of epidemiological data. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

  7. Treatment of tropical mycoses.

    PubMed

    Restrepo, A

    1994-09-01

    Several subcutaneous and deep-seated mycoses are either observed more frequently in the tropical areas or are restricted to certain regions within the tropics. These mycoses include sporotichosis, chromoblastomycosis, entomophthoromycosis, eumycetoma, lobomycosis, and paracoccidioidomycosis. In sporotrichosis and paracoccidioidomycosis, therapy often results in either complete resolution or marked improvement. For decades sporotrichosis has been treated successfully with potassium iodide, but recently the triazole compounds, especially itraconazole, have proved effective and free of major side effects. The usual therapy for paracoccidioidomycosis is sulfonamides or amphotericin B; the former requires prolonged treatment, whereas the latter causes a significant degree of toxicity. Various azole derivatives (ketoconazole, fluconazole, saperconazole, and itraconazole) allow shorter treatment courses, can be given orally, and are more effective. Presently, itraconazole is the drug of choice. Chromoblastomycosis is a difficult condition to treat, especially if it is caused by Fonsecaea pedrosoi. Several therapeutic approaches have been used, including heat, surgery, cryotherapy, thiabendazole, amphotericin B combined with flucytosine, and azole derivatives, but their success has been modest. A 65% response rate has been obtained with itraconazole given for periods of 6 to 19 months; in limited trials, saperconazole appears to be more effective and requires shorter treatment courses. Only a few patients with eumycetoma respond to therapy; 70% of patients with Madurella mycetomatis respond to prolonged treatment with ketoconazole. Griseofulvin has been tried in nonresponders with partial success. Limited data in patients with Fusarium species eumycetoma indicate good responses to itraconazole. Eumycetoma caused by Pseudallescheria boydii or Acremonium species has been refractory to therapy. Therapy of entomophthoromycosis is also difficult because the diagnosis is usually

  8. Incidence of systemic mycoses in autopsy material.

    PubMed

    Koch, S; Höhne, F-M; Tietz, H-J

    2004-02-01

    The incidence of systemic mycoses was investigated in the autopsy material of the Institute of Pathology of the Humaine Hospital in Bad Saarow, Germany. This hospital provides qualified standard care in east Brandenburg with a wide spectrum of medical disciplines caring for patients with acute medical conditions as well as oncological cases (660 beds). Between 1973 and 2001, 47 systemic mycoses were diagnosed in 4813 autopsies of deceased adults, corresponding to 0.98%. During the period of investigation, both the care provided by the hospital and the organization of the health service changed. The autopsy frequency fell from about 80% (1973-1991) to about 28% (1992-2001). This is thus still far higher than the average of about 3% assumed for the Federal Republic of Germany. Although the incidence of systemic mycoses increased during the entire 29-year period of investigation, the number of cases in whom this was the immediate cause of death decreased. Whereas candidoses predominated from 1973 to 1991, a shift in favor of aspergilloses was noticed in the period from 1992 to 2001. Systemic mycosis was diagnosed intravitally in only three of 47 cases. The present study therefore underscores the significance of clinical autopsy as a diagnostic method and means of medical quality control.

  9. [Mycoses and zoonoses: Cryptococcus spp].

    PubMed

    Cabañes, F Javier

    2008-03-01

    The term "zoonosis" is difficult to delimit because different authors have various definitions for this term. Few mycoses are usually considered zoonoses. However, the role that animals play in the epidemiology of the main human mycoses is still not well known. Moreover, the environmental niches for these fungal agents have not yet been completely determined. This special issue of the "Revista Iberoamericana de Micología" deals with the talks and round table presented at the VIII Spanish Mycological Congress held in October 2006 in Barcelona, Spain on "Cryptococcus spp. and zoonoses".

  10. Advances and challenges in management of invasive mycoses.

    PubMed

    Patterson, Thomas F

    Invasive mycoses pose a major diagnostic and therapeutic challenge. Advances in antifungal agents and diagnostic methods offer the potential for improved outcomes in patients with these infections, which are often lethal. Many fungal pathogens occur almost exclusively in opportunistic settings--in the immunocompromised host--and these infections are the focus of this review. Several areas of ongoing challenge remain, including the emergence of resistant organisms and the absence of reliable markers for early identification of patients at risk of developing invasive fungal disease. This Seminar reviews the changing epidemiology of invasive mycoses, new diagnostic methods, and recent therapeutic options and current management strategies for these opportunistic pathogens.

  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. Aspergillosis and other systemic mycoses. The growing problem.

    PubMed

    Fraser, D W; Ward, J I; Ajello, L; Plikaytis, B D

    1979-10-12

    To measure the incidence in the United States of systemic mycoses necessitating hospitalization, we reviewed discharge records of 1,875 hospitals participating in the Professional Activity Study of the Commission on Professional and Hospital Activities. Projected incidence rates in 1976 ranged from 23.0 per million for histoplasmosis to 0.2 per million for blastomycosis. High prevalences of leukemia or lymphoma (5.9% to 10.2%) or of other malignancies (9.9% to 13.2%) were recorded in patients with aspergillosis, candidasis, or cryptococcosis. High prevalences of chronic obstructive lung disease (9.6% to 9.9%) were recorded in those with aspergillosis or histoplasmosis. Marked increases from 1970 to 1976 were found in the incidence of aspergillosis (158%), actinomycosis (92%), cryptococcosis (78%), and coccidioidomycosis (74%). Increasing numbers of persons with immunosuppressive conditions, migration of susceptible persons into hyperendemic areas, and aging of the population contributed to the increases.

  13. 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.

  14. Migration and mycoses.

    PubMed

    Morrone, A

    2013-12-01

    In recent years, the incidence of fungal infections of the skin, one of the most frequent forms of infection, has been steadily increasing in Europe. One of the main factors contributing to this increase is the gradual raise of migratory flows towards Europe. In the last decades Italy has witnessed an ever-increasing growth of the migrant population, and has become, to this day, one of the European countries with the highest number of immigrants. This phenomenon has had significant implications in clinical practice of dermatologic mycology as it is increasingly common to see unusual clinical isolate causal agents absent in our latitudes until a short time ago. This review provides an update on the epidemiology, classification, pathogenesis, clinical manifestations and treatment of the most important dermato-mycosis observed in the immigrant population, through the most typical cases, investigated by microscopic and cultural findings. These diseases continue to expand and are often difficult to detect. The special relationship between host-environment interaction-parasite plays a crucial role as, even more than in other categories, it is widely widespread among the immigrants.

  15. Opportunistic filamentous mycoses: aspergillosis, mucormycosis, phaeohyphomycosis and hyalohyphomycosis.

    PubMed

    Perusquía-Ortiz, Ana María; Vázquez-González, Denisse; Bonifaz, Alexandro

    2012-09-01

    Opportunistic filamentous mycoses are widely distributed all over the world. They are rarely observed in Europe but are common in developing countries. The most common are the aspergilloses (due to Aspergillus spp.) mostly in neutropenia and immunosuppression; the mucormycoses characterized by rapid progression in patients with diabetic ketoacidosis; the phaeohyphomycoses due to pigmented fungi causing either a mild superficial or a very serious deep disease and the hyalohyphomycoses due to hyaline filamentous fungi (Fusarium spp., Pseudallescheria spp., Scopulariopsis spp.). Cutaneous manifestations are usually secondary to dissemination from pulmonary or visceral disease; primary cases are less frequent and due to direct inoculation into the skin. We review epidemiological, clinical, diagnostic, and therapeutic data on the four most important opportunistic filamentous mycoses: aspergillosis, mucormycosis, phaeohyphomycosis and hyalohyphomycosis.

  16. Subcutaneous mycoses: chromoblastomycosis, sporotrichosis and mycetoma.

    PubMed

    Bonifaz, Alexandro; Vázquez-González, Denisse; Perusquía-Ortiz, Ana María

    2010-08-01

    Subcutaneous mycoses are common in subtropical and tropical regions of the world. They are rarely observed in Europe. These mycoses are heterogeneous, but all are caused by penetrating trauma of the skin. Most cases in Europe are observed in returning travelers, aid workers, archaeologists and immigrants. Therefore, a careful, thorough history is essential in order to reach a proper diagnosis. We provide up-to-date epidemiological, clinical, diagnostic, and therapeutic data on the three most important imported subcutaneous mycoses in Europe: chromoblastomycosis, sporotrichosis and mycetoma.

  17. Cutaneous involvement in the deep mycoses: A review. Part II -Systemic mycoses.

    PubMed

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

    2016-12-01

    In the second part of this review on the deep mycoses, we describe the main systemic mycoses-paracoccidioidomycosis, coccidioidomycosis, histoplasmosis, mucormycosis, and cryptococcosis-and their cutaneous manifestations. Skin lesions are only occasionally seen in deep systemic mycoses either directly, when the skin is the route of entry for the fungus, or indirectly, when the infection has spread from a deeper focus. These cutaneous signs are often the only clue to the presence of a potentially fatal infection. As with the subcutaneous mycoses, early diagnosis and treatment is important, but in this case, even more so.

  18. A 7-year survey of superficial and cutaneous mycoses in a public hospital in Natal, Northeast Brazil

    PubMed Central

    Calado, Nicácia Barbosa; de Sousa Júnior, Francisco Canindé; Diniz, Mariana Guimarães; Fernandes, Ana Cristina Santos; Cardoso, Fernando José Ramos; Zaror, Luiz Conrado; Ferreira, Maria Ângela Fernandes; Milan, Eveline Pipolo

    2011-01-01

    In the present study, we determined the frequency of superficial and cutaneous mycoses and their etiologic agents during a 7-year period (2002–2008) in Natal, Brazil. A total of 1,717 specimens of skin, nail, and hair were collected from 1,382 patients with suspected mycoses lesions and were then subjected to direct microscopy and culture. PMID:24031755

  19. 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.

  20. Molecular diagnosis of endemic and invasive mycoses: advances and challenges.

    PubMed

    Gómez, Beatriz L

    2014-01-01

    The diagnosis of endemic and invasive fungal disease remains challenging. Molecular techniques for identification of fungi now play a significant and growing role in clinical mycology and offer distinct advantages as they are faster, more sensitive and more specific. The aim of this mini-review is to provide an overview of the state of the art of molecular diagnosis of endemic and invasive fungal diseases, and to emphasize the challenges and current need for standardization of the different methods. The European Aspergillus PCR Initiative (EAPCRI) has made significant progress in developing a standard for Aspergillus polymerase chain reaction (PCR), but recognizes that the process will not be finished until clinical utility has been established in formal and extensive clinical trials. Similar efforts should be implemented for the diagnosis of the other mycoses in order to fully validate the current methods or reinforce the need to design new ones. This manuscript is part of the series of works presented at the "V International Workshop: Molecular genetic approaches to the study of human pathogenic fungi" (Oaxaca, Mexico, 2012).

  1. 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.

  2. 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.

  3. Mycoses of implantation in Latin America: an overview of epidemiology, clinical manifestations, diagnosis and treatment.

    PubMed

    Queiroz-Telles, Flavio; Nucci, Marcio; Colombo, Arnaldo Lopes; Tobón, Angela; Restrepo, Angela

    2011-04-01

    Implantation or subcutaneous mycoses are a frequent health problem in Latin American countries and other tropical and subtropical areas. Although such infections rarely cause disseminated or invasive disease, they have an important impact on public health, and timely diagnosis and appropriate treatment remain important. Although some implantation mycoses are found in immunocompromised persons, the immunocompetent population is the principal target in Latin America. Most etiologic agents are found in soil, vegetation, and decaying matter in tropical, subtropical, and humid environments and infection is commonly the result of penetrating injury. Infections primarily occur (1) among low socioeconomic groups, (2) among those living in rural areas or involved in farming, hunting, or other outdoor activities, and (3) particularly among adult men. This review focuses on the epidemiology of the most clinically significant implantation mycoses in Latin America, i.e., sporotrichosis, eumycetoma, chromoblastomycosis, subcutaneous phaeohyphomycosis, subcutaneous zygomycosis, and lacaziosis. Main epidemiologic findings, clinical manifestations, diagnosis, and treatment options are also discussed.

  4. Clinical analysis of deep cutaneous mycoses: a 12-year experience at a single institution.

    PubMed

    Kim, M S; Lee, S M; Sung, H S; Won, C H; Chang, S; Lee, M W; Choi, J-H; Moon, K-C

    2012-11-01

    Deep cutaneous mycoses can cause significant morbidity and mortality, especially in immunocompromised patients. There have been few studies focusing on deep cutaneous mycoses and there are no data from Asian countries. This study aimed to investigate clinical characteristics, underlying predisposing factors, aetiological organisms and outcomes in patients with deep cutaneous mycoses. A retrospective medical record review of patients with deep cutaneous mycoses treated at a tertiary referral centre in Korea from 1999 to 2010. Forty-one cases of deep cutaneous mycosis were identified (median age: 49). Most patients (32/41) had impaired immunological status, and seven of the remaining nine had a history of physical trauma. Neutropenia and long-term use of antibiotics were detected in 13 and 12 patients respectively. Nodular skin lesions were the most common type (17/41) and the morphology of the lesions varied. Fungal organisms were identified by culture and histopathology of skin specimens. Candida (16/41) was the most common organism, followed by Aspergillus, Alternaria, Fusarium (4/41 each). Systemic antifungal treatment was successful in 28 patients, while nine patients died from the fungal infection. Our study may lead to improved insights into deep cutaneous mycoses as their incidence is increasing and they vary in different clinical settings.

  5. [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.

  6. [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.

  7. [Molecular and immunological methods applied in diagnosis of mycoses].

    PubMed

    Kuba, Katarzyna

    2008-01-01

    The diagnosis of fungal infections remains a problem for the management of fungal diseases, particularly in the immunocompromised patients. Systemic Candida infections and invasive aspergillosis can be a serious problem for individuals who need intensive care. Traditional methods used for the identification and typing of medically important fungi, such as morphological and biochemical analysis, are time-consuming. For the diagnosis of mycoses caused by pathogenic fungi faster and more specific methods, especially after the dramatic increase in nosocomial invasive mycoses are needed. New diagnostic tools to detect circulating fungal antigens in biological fluids and PCR-based methods to detect species or genus-specific DNA or RNA have been developed. Antigen detection is limited to searching only one genus. Molecular genetic methods, especially PCR analysis, are becoming increasingly important as a part of diagnostics in the clinical mycology laboratory. Various modifications of the PCR method are used to detect DNA in clinical material, particularly multiple, nested and real-time PCR. Molecular methods may be used to detection of nucleic acids of fungi in clinical samples, to identify fungal cultures at the species level or to evaluate strain heterogeneity differences within the species. This article reviews some of the recent advances in the possibility of molecular diagnosis of fungal infections.

  8. Epidemiological trends in skin mycoses worldwide.

    PubMed

    Havlickova, Blanka; Czaika, Viktor A; Friedrich, Markus

    2008-09-01

    Fungal infections of the skin and nails are a common global problem. The high prevalence of superficial mycotic infections shows that 20-25% of the world's population has skin mycoses, making these one of the most frequent forms of infection. Pathogens responsible for skin mycoses are primarily anthropophilic and zoophilic dermatophytes from the genera Trichophyton (T.), Microsporum (M.) and Epidermophyton (E.). There appears to be considerable inter- and intra-continental variability in the global incidence of these fungal infections. Trichophyton rubrum, T. interdigitale (mentagrophytes var. interdigitale), M. canis, M. audouinii, T. tonsurans and T. verrucosum are the most common, but the attack rates and incidence of specific mycoses can vary widely. Local socio-economic conditions and cultural practices can also influence the prevalence of a particular infection in a given area. For example, tinea pedis (athlete's foot) is more prevalent in developed countries than in emerging economies and is likely to be caused by the anthropophilic germ T. rubrum. In poorer countries, scalp infections (tinea capitis) caused by T. soudanense or M. audouinii are more prevalent. This review summarises current epidemiological trends for fungal infections and focuses on dermatomycosis of glabrous skin on different continents.

  9. Mycoses in the transplanted patient.

    PubMed

    Dictar, M O; Maiolo, E; Alexander, B; Jacob, N; Verón, M T

    2000-01-01

    The incidence of invasive fungal infection (IFI) has increased considerably over the past 20 years, and transplant recipients are at especially high risk for fungal infections owing to their overall immunosuppressed condition. Organ transplantation procedures were incorporated as a therapeutic option for many patients who lacked the normal functions of organs such as the heart, liver, kidney, lung, pancreas and small bowel. The prevalence of IFI in solid organ transplant (SOTR) patients ranges from 5 to 50% in kidney and liver transplants, respectively. In bone marrow transplant (BMT) patients, IFI are major causes of morbidity and mortality due to the protracted neutropenic period and graft-versus-host disease. Candida spp. and Aspergillus spp. account for >80% of fungal episodes in both SOTR and BMT. The development of new immunosuppressive agents, new prophylaxis strategies (as pre-emptive therapy) and the improvement in surgical techniques led to increase survival of transplant recipients. In this session, a clear and concise update of the recent advances in the laboratory diagnosis of candidiasis and aspergillosis in this kind of patients was presented. However, we still need to establish more rapid, sensitive and specific methods for IFI diagnosis. Representatives of the 'Subcomision de Infecciones en el Paciente Neutropenico y Transplantado (SIPNYT)' de la Sociedad Argentina de Infectologia (SADI), presented the results of an unusual multicenter study both retrospective and descriptive studies of IFI in SOTR and BMT patients in Argentina. In addition, a study of IFI in 1,861 SOTR patients from four centers and the analysis of IFI in 2,066 BMT patients from all 12 BMT centers from Argentina was presented. From these studies it can be concluded that 'all transplant recipients are not the same' and that they should be stratified according to their different risk degrees in order to determine the best prophylaxis and treatment strategies.

  10. Mycoses in Thailand: current concerns.

    PubMed

    Ungpakorn, Rataporn

    2005-01-01

    Scytalidium dimidiatum is the leading cause of fungal foot diseases in Thailand, in contrast to similar studies in which dermatophytes have been identified as the predominant pathogens. By contrast, the prevalence of Candida albicans in our study was only 2.6 approximately 3.0%. Scytalidium fungal foot infection is clinically indistinguishable from that caused by dermatophytes and should be included as a possible cause of treatment failure in tinea pedis and onychomycosis. Without proper culture identification, clinically diagnosed patients would be treated with a standard antifungal regimen leading to minimal response and be interpreted as drug resistant cases resulting in switching of drugs and more aggressive management procedures. Tinea capitis is another health problem in young children. However, for Microsporum canis and some ectothrix organisms, the effectiveness of treatment may be less than endothrix infection. Griseofulvin is still the mainstay antifungal although itraconazole and terbinafine are as effective. Pulse regimen may be another option with advantages of increased compliance and convenience. Two pulses of terbinafine may be sufficient for treating most cases of Microsporum infection, although additional treatment may be needed if clinical improvement is not evident at week 8 after initiating therapy. Chromoblastomycosis is another subcutaneous infection that requires long treatment duration with costly antifungal drugs. The most common pathogen in Thailand is Fonsecaea pedrosoi. Preliminary study of pulse itraconazole 400 mg/d 1 week monthly for 9-12 consecutive months showed promising results. The prevalence of Penicillium marneffei infection is alarming in HIV infected patients living in endemic areas. Diagnosis relies on direct examination of the specimens and confirmation by culture. Treatment regimens include systemic amphotericin B or itraconazole followed by long-term prophylaxis. Treatment outcome depends on the immune status of the

  11. Epidemiological Characterization of Opportunistic Mycoses between the Years 2006 and 2010 in Korea.

    PubMed

    Park, Je-Seop; Cho, Seung-Hak; Youn, Seung-Ki; Bak, Young-Seok; Yu, Young-Bin; Kim, Young Kwon

    2016-01-01

    In order to perform an epidemiological characterization of opportunistic mycosis infections, we collected health insurance data between the years 2006 and 2010 from the Health Insurance Corporation and analyzed the data to determine the prevalence of opportunistic mycoses and treatment management of opportunistic mycoses. The prevalence within the study increased consecutively by 0.02% to 0.12% every year. The annual prevalence of opportunistic mycoses increased from 2.437% in 2006 to 2.709% in 2010. The average annual prevalence was 2.605%. Candidiasis occurred the most frequently, followed by aspergillosis, zygomycosis, and cryptococcosis. The regions with the highest incidences were the capital areas, Gyeonggi and Seoul. By sex, the prevalence in females (4.851%) was 14 times higher than that in males (0.352%). Interestingly, the adults from the 20- to 49-year-old age group showed higher prevalence than children and the elderly. The average duration of hospitalized treatment was 17.31 days and of outpatient treatment was 2.21 days; 3,577 hundred million won was used in total for medical expenses. This study provides useful data to study trends of opportunistic mycoses.

  12. [Current epidemiology and laboratory diagnosis of endemic mycoses in Spain].

    PubMed

    Buitrago, María J; Cuenca-Estrella, Manuel

    2012-08-01

    Histoplasmosis and paracoccidioidomycosis are emerging infections in Spain associated with immigration and travelling. In last three decades a total of 128 cases of histoplasmosis have been reported in Spain, 59 in travellers, 63 in immigrants, three associated to drug abuse, two in laboratory workers, and one in a solid organ transplant receptor. In 1969 the first Spanish case of paracoccidioidomycosis was published and a total of 21 cases have been reported so far. Those patients suffered from the chronic form of the disease with period of latency as long as 50 years. Other endemic mycoses such as blastomycosis, coccidioidomycosis, lobomycosis, pythiosis and sporotrichosis have not increased in frequency. Microbiological cultures of endemic fungi must be handled in facilities which comply with international biosafety regulations and must also be taken into account for cultures from patients with suspected endemic mycosis.

  13. Treatment of superficial mycoses: review - part II*

    PubMed Central

    Dias, Maria Fernanda Reis Gavazzoni; Bernardes-Filho, Fred; Quaresma-Santos, Maria Victória Pinto; Amorim, Adriana Gutstein da Fonseca; Schechtman, Regina Casz; Azulay, David Rubem

    2013-01-01

    Superficial fungal infections of the hair, skin and nails are a major cause of morbidity in the world. Choosing the right treatment is not always simple because of the possibility of drug interactions and side effects. The first part of the article discusses the main treatments for superficial mycoses - keratophytoses, dermatophytosis, candidiasis, with a practical approach to the most commonly-used topical and systemic drugs , referring also to their dosage and duration of use. Promising new, antifungal therapeutic alternatives are also highlighted, as well as available options on the Brazilian and world markets. PMID:24474103

  14. Laboratory diagnosis of invasive mycoses.

    PubMed

    O'Shaughnessy, Elizabeth M; Shea, Yvonne M; Witebsky, Frank G

    2003-03-01

    Rising numbers of immunocompromised patients have led to an ever-increasing population at risk of invasive fungal disease. Much has been achieved in the laboratory diagnosis of these infections, such as advances in blood culture systems, and the development of new biochemical, antigen detection assays, and molecular methodologies. More standardized susceptibility testing guidelines provide for better therapeutic interventions. In an era of economic cutbacks in health care, future challenges include the development of cost-effective and technically simplified systems, which provide early detection and identification of common and emerging fungal pathogens. It will, however, take some time to establish the clinical relevance of these new methodologies in different patient populations.

  15. [New developments in therapy of deep mycoses].

    PubMed

    Yamaguchi, H

    2000-01-01

    Over the past two decades the incidence of deep mycoses caused by several major groups of fungal pathogens such as Candida spp., aspergilli, Cryptococcus neoformans and zygomycetes has risen steadily. Moreover, opportunistic fungal infections due to Fusarium spp., Trichosporon spp., Pseudallescheria boydii and other emerging pathogens, as well as fluconazole-resistant Candida albicans, all of which are often resistant to existing antifungal drugs, are also encountered more and more frequently. This makes it more difficult for the clinician to achieve successful treatment. Thus there is an urgent need to develop new antifungal agents or formulations with advantages over and/or complimentary to existing drugs. This review focuses on current approaches to antifungal chemotherapy with special reference to the clinical development of new drugs, including (ii) lipid formulations of amphotericin B, (i) second-generation azoles and (iii) antifungal lipopeptides.

  16. Infrequent Production of Xanthomegnin by Fungal Strains Recovered from Patients with Ocular Mycoses.

    PubMed

    Ozdemir, Havva Gül; Kandemir, Hazal; Çürük, Akif; Ilkit, Macit; Seyedmousavi, Seyedmojtaba

    2016-04-01

    Mycotoxins are putative virulence factors of fungi that play an important role in the pathogenesis of fungal infections. Mycotoxin production has been used as a diagnostic marker for the early diagnosis of fungal diseases. Using high-performance liquid chromatography, we investigated whether the fungal strains recovered from eye tissue samples obtained from patients with ocular mycoses produced the mycotoxin xanthomegnin. We tested 62 well-characterized strains of fungi, including Aspergillus spp. (n = 14), Exophiala spp. (n = 9), Fusarium spp. (n = 15), and several molds (n = 24). All isolates were identified to the species level using PCR and DNA sequencing of rRNA genes. We detected xanthomegnin activity (0.02 µg/ml) in one of the three Aspergillus flavus strains. However, we were unable to detect xanthomegnin in any of the other 61 fungal strains. Our result suggests that xanthomegnin production was infrequent in fungal strains recovered from patients with ocular mycoses.

  17. Difficult mycoses of the skin: advances in the epidemiology and management of eumycetoma, phaeohyphomycosis and chromoblastomycosis.

    PubMed

    Garnica, Marcia; Nucci, Marcio; Queiroz-Telles, Flavio

    2009-12-01

    Eumycetoma, phaeohyphomycosis and chromoblastomycosis are subcutaneous mycoses having in common the fact that they are acquired as a result of penetrating trauma to the skin and may be caused by a large variety of fungi. This article will review recent data regarding the epidemiology and treatment of these infections. Recent epidemiologic observations in these mycoses include an increased incidence of phaeohyphomycosis in immunosuppressed patients, the association of polymorphisms in genes involved in innate immunity, the occurrence of eumycetoma caused by Madurella mycetomatis and the nosocomial acquisition of phaeohyphomycosis. The management of these infections continues to be challenging. An approach that involves early diagnosis, the use of systemic antifungal agents and local therapies, including surgical removal of lesions, is the basis of the treatment of these diseases. It is crucial that the epidemiology and clinical presentation of these infections are understood if we are to improve their outcomes.

  18. Identification and management of invasive mycoses in internal medicine: a road-map for physicians.

    PubMed

    Falcone, Marco; Concia, Ercole; Iori, Ido; Lo Cascio, Giuliana; Mazzone, Antonino; Pea, Federico; Violi, Francesco; Venditti, Mario

    2014-08-01

    Invasive mycoses are a rising problem, not only in traditional categories of patients like hematologic or neutropenic ones, but also in elderly non-neutropenic patients admitted to internal medicine wards. Patients being admitted to medical wards are usually older, have multiple comorbidities, e.g., liver cirrhosis or chronic obstructive respiratory disease, may be malnourished or receive peripheral or total parenteral nutrition, and frequently are undergoing chronic corticosteroid therapy, chemotherapy for cancer or monoclonal antibodies for autoimmune diseases. Such risk factors may be contemporarily present in a single patient increasing the risk for the development of invasive mycoses. Diagnosis of candidemia and invasive aspergillosis is particularly difficult in patients hospitalized on medical wards, since symptoms and signs have low specificity, and most diagnostic tests have been only validated in neutropenic hematologic patients, but not in those without neutropenia. Both candidemia and invasive aspergillosis carry significant morbidity and mortality. The aim of this paper is to provide a simple guide to physicians for a prompt identification and treatment of patients with possible or suspected invasive mycoses.

  19. [Resistance problems in treatment of vaginal mycoses? (author's transl)].

    PubMed

    Spitzbart, H

    1980-01-01

    The authors isolated 135 yeasts from patients who had undergone repeated treatment for mycoses. Analyses were made to determine resistance to Nystatin and Clotrimazol. Secondary resistance was exhibited by Candida species, but their pathogenicity still is controversial.

  20. 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

  1. Invasive mycoses: strategies for effective management.

    PubMed

    Kontoyiannis, Dimitrios P

    2012-01-01

    Effective management of invasive fungal infections (IFIs) depends on early individualized therapy that optimizes efficacy and safety. Considering the negative consequences of IFI, for some high-risk patients the potential benefits of prophylactic therapy may outweigh the risks. When using a prophylactic, empiric, or preemptive therapeutic approach, clinicians must take into account the local epidemiology, spectrum of activity, pharmacokinetic and pharmacodynamic parameters, and safety profile of different antifungal agents, together with unique host-related factors that may affect antifungal efficacy or safety. Therapeutic drug monitoring is increasingly recognized as important or necessary when employing lipophilic triazoles (itraconazole, voriconazole, posaconazole) or flucytosine. Because early diagnostics remain limited for uncommon, yet emerging opportunistic molds (e.g., Mucorales), and treatment delay is associated with increased mortality, early effective management often depends on a high index of suspicion, taking into account predisposing factors, host cues favoring mucormycosis, and local epidemiology. Antifungal options for mucormycosis are limited, and optimal management depends on a multimodal approach that includes early diagnosis/clinical suspicion, correction of underlying predisposing factors, radical debridement of affected tissues, and extended antifungal therapy. This article discusses strategies for the effective management of invasive mycoses, with a particular focus on antifungal hepatotoxicity.

  2. 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.

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

    PubMed Central

    Sherchand, Jeevan Bahadur; Pokharel, Dinesh Binod; Pokhrel, Bharat Mani; Mishra, Shyam Kumar; 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. PMID:28003819

  4. Two rare cases of central nervous system opportunistic mycoses.

    PubMed

    Mlinarić Missoni, Emilija; Baršić, Bruno

    2012-12-01

    This article presents two cases of opportunistic mycoses (OMs) of the central nervous system (CNS) caused by Cryptococcus neoformans and Aspergillus nidulans, respectively. The patients were hospitalised in local hospitals between 2009 and 2011 because of unspecific symptoms (fever, headache, and/or weight lost). Duration of symptoms varied from 4 days to over 2 weeks. The patients were treated with antibiotics and symptomatically. OM was not suspected in any of them. The patients became critically ill with symptoms of CNS involvement and were transferred to the Intensive Care Unit (ICU) of the University Hospital for Infectious diseases (UHID) in Zagreb. None of the patients belonged to the high-risk population for developing OMs. They were not HIV-infected, had no transplantation of bone marrow or solid organ, and were not on severe immunosuppressive chemotherapy. Fungi were isolated from cerebrospinal fluid (CSF) samples and, in one patient, from aspirate of cerebral abscess. Isolation and mycological identification of all fungal isolates and in vitro antifungal susceptibility testing of these isolates were done at the Reference Centre for Mycological Diagnostics of Systemic and Disseminated Infections (RCMDSDI) in Zagreb. The patient with cryptococcal meningitis was treated with amphotericin B and fluconazole and the patient with cerebral aspergilloma with voriconazole.

  5. Antifungal activity of itraconazole and voriconazole against clinical isolates obtained from animals with mycoses.

    PubMed

    Okabayashi, Ken; Imaji, Mashio; Osumi, Takafumi; Murakami, Yoshihiko; Maruyama, Haruhiko; Kano, Rui; Hasegawa, Atsuhiko; Watanabe, Toshi

    2009-01-01

    Animal mycosis, particularly deep mycosis, is one of the most challenging conditions encountered by veterinarians. Pathogens causing mycotic infections in animals include fungi such as Cryptococcus neoformans, Candida spp., and Aspergillus spp. The antifungal drugs used for the treatment of deep mycoses in animals as well as humans are polyenes and azoles. However, the sensitivity of clinical isolates obtained from animals toward these drugs has rarely been assayed. In this study, the antifungal activities of itraconazole and voriconazole against clinical isolates of C. neoformans, Candida spp., and A. fumigatus isolated from animals with mycoses were examined using the broth microdilution method performed according to the guidelines provided by the Clinical and Laboratory Standards Institute. The minimum inhibitory concentrations (MICs) of itraconazole toward the C. neoformans, Candida spp., and A. fumigatus isolates were 0.125 - 1, 0.125 - 2, and 0.25 - 2 microg/ml, respectively, and those of voriconazole were 0.0625 - 0.5, < or =0.0313 - 0.0625, and 0.0625 - 1 microg/ml, respectively. The results of the MIC analyses implied that the fungal isolates obtained from infected animals exhibit an equivalent degree of susceptibility to itraconazole and voriconazole, as is observed in the case of isolates obtained from humans. The appropriate antifungal therapeutic strategy for the treatment of mycoses in animals must be selected taking into consideration the host immune status and organ function as well as the in vitro sensitivity of the pathogens to antifungal drugs.

  6. Endemic systemic mycoses: coccidioidomycosis, histoplasmosis, paracoccidioidomycosis and blastomycosis.

    PubMed

    Bonifaz, Alexandro; Vázquez-González, Denisse; Perusquía-Ortiz, Ana María

    2011-09-01

    Endemic deep or systemic mycoses are common in specific geographical areas of the world. Coccidioidomycosis is present in semi-desert areas, histoplasmosis and paracoccidioidomycosis in tropical regions and blastomycosis belongs to temperate climates. The two former are widely distributed in the American continent and some tropical regions of the world; the third is limited to Central and South America, and the last to North America and Central and East Africa. These mycoses all have a similar pathogenesis, as the inoculum enters the host through the respiratory tract. Cutaneous manifestations are secondary to lymphatic and hematogenous dissemination. These deep mycoses are exceptional in Europe. Most cases are observed in returning travelers from endemic areas, aid workers, archaeologists, speleologist and immigrants. However, there have been some autochthonous cases of histoplasmosis due to Histoplasma capsulatum var. capsulatum reported in European countries such as Italy and Germany. In this article, we provide up-to-date epidemiological, clinical, diagnostic and therapeutic data on the four most important imported systemic mycoses in Europe.

  7. [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.

  8. 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

  9. Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.

    PubMed

    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

  10. Emerging trends in the epidemiology of invasive mycoses in England and Wales (1990-9).

    PubMed

    Lamagni, T L; Evans, B G; Shigematsu, M; Johnson, E M

    2001-06-01

    Invasive fungal infections are becoming an increasing public health problem owing to the growth in numbers of susceptible individuals. Despite this, the profile of mycoses remains low and there is no surveillance system specific to fungal infections currently existing in England and Wales. We analysed laboratory reports of deep-seated mycoses made to the Communicable Disease Surveillance Centre between 1990 and 1999 from England and Wales. A substantial rise in candidosis was seen during this period (6.76-13.70 reports per million population/year), particularly in the older age groups. Rates of cryptococcosis in males fluctuated over the decade but fell overall (1.05-0.66 per million population/year), whereas rates of female cases gradually rose up until 1998 (0.04-0.41 per million population/year). Reports of Pneumocystis carinii in men reduced substantially between 1990 and 1999 (2.77-0.42 per million population/year) but showed little change in women. Reports of aspergillosis fluctuated up until 1996, after which reports of male and female cases rose substantially (from 0.08 for both in 1996 to 1.92 and 1.69 per million population/year in 1999 for males and females respectively), largely accounted for by changes in reporting practice from one laboratory. Rates of invasive mycoses were generally higher in males than females, with overall male-to-female rate ratios of 1.32 (95% CI 1.25-1.40) for candidosis, 1.30 (95% CI 1.05-1.60) for aspergillosis, 3.99 (95% CI 2.93-5.53) for cryptococcosis and 4.36 (95% CI 3.47-5.53) for Pneumocystis carinii. The higher male than female rates of reports is likely to be a partial reflection of HIV epidemiology in England and Wales, although this does not fully explain the ratio in infants and older age groups. Lack of information on underlying predisposition prevents further identification of risk groups affected. Whilst substantial under-reporting of Pneumocystis carinii and Cryptococcus species was apparent, considerable

  11. Systemic mycoses in the immunocompromised host: an update in antifungal therapy.

    PubMed

    Kontoyiannis, D P; Mantadakis, E; Samonis, G

    2003-04-01

    Despite significant advances in the management of immunosuppressed patients, invasive fungal infections remain an important life-threatening complication. In the last decade several new antifungal agents, including compounds in pre-existing classes (new generation of triazoles, polyenes in lipid formulations) and novel classes of antifungals with a unique mechanism of action (echinocandins), have been introduced in clinical practice. Ongoing and future studies will determine their exact role in the management of different mycoses. The acceleration of antifungal drug discovery offers promise for the management of these difficult to treat opportunistic infections.

  12. [NEW STRATEGIES FOR THE MICROBIOLOGICAL DIAGNOSIS OF VISCERAL MYCOSES].

    PubMed

    Alanio, Alexandre; Bretagne, Stéphane

    2015-12-01

    The recent improvements of the diagnosis of invasive mycoses have included the shortening of the species identification time for a rapid adaptation of the antifungal treatment, and the anticipation of the diagnosis thanks to biomarkers. Species identification is now achieved using MALDI-TOF 24 hours earlier than with the previous phenotypic tests. The aim is now to identify directly on positive blood bottle either using MALDI-TOF or molecular methods. The biomarkers are dominated by antigens (mannan, galactomanan, glucan) with available commercial kits. These antigens are mainly used as screening tests in patients at risk of invasive mycoses. Their main limitation is their weak specificity rather than their sensitivity. For circulating DNA, the quantitative real-time PCR format and the publication of recommendations for validation of diagnostic assays suggest they should be implemented soon in a diagnostic strategy.

  13. Saperconazole in the treatment of systemic and subcutaneous mycoses.

    PubMed

    Franco, L; Gomez, I; Restrepo, A

    1992-10-01

    In a 2-year period, 30 patients with culture-proven mycoses (chromoblastomycosis, sporotrichosis, and paracoccidioidomycosis) were treated with the new orally administered triazole, saperconazole (SPZ) (R66905). The daily dose varied from 100 to 200 mg. All patients responded to treatment; the mean time required to heal the lesions and convert the cultures to negative was 3.5 months for sporotrichosis, 4.6 for paracoccidioidomycosis, and 9.0 for chromoblastomycosis. Evaluation by a scoring system indicated that 36.6% of the patients achieved complete resolution of the pretherapy abnormalities, while the remaining (63.3%) experienced major improvement. No collateral effects were reported; there were no bone-marrow or liver toxicities. SPZ is an effective drug for the treatment of the above-mentioned mycoses and appears to be suitable for the control of chromoblastomycosis.

  14. Isavuconazole Treatment of Cryptococcosis and Dimorphic Mycoses

    PubMed Central

    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.

    2016-01-01

    Background. 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. Methods. 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. Results. 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. Conclusions. 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. Clinical Trials Registration. NCT00634049. PMID:27169478

  15. Superficial mycoses at the Hospital do Servidor Público Municipal de São Paulo between 2005 and 2011*

    PubMed Central

    Chiacchio, Nilton Di; Madeira, Celso Luiz; Humaire, Caio Rosa; Silva, Camila Simon; Fernandes, Lucia Helena Gomes; Reis, Ana Lucia Dos

    2014-01-01

    BACKGROUND Superficial mycoses are fungal infections limited to the outermost layers of the skin. Dermatophytic filamentous fungi and yeasts are the major causative agents of these mycoses. Dermatophytosis is one of the clinical conditions caused by fungal infections most commonly found in dermatological practice. Thus, knowledge of the ecology of dermatophytes provides a better understanding of the natural history of dermatophytosis. OBJECTIVE This study aimed to investigate epidemiological and mycological features of superficial mycoses diagnosed from 2005 to 2011 in the Dermatology Clinic of the Hospital do Servidor Público Municipal de São Paulo, Brazil. METHOD This retrospective study was conducted in the Laboratory of Medical Mycology at the Dermatology Clinic of the Hospital do Servidor Público Municipal de São Paulo. Mycological examinations of 9042 patients with clinical suspicion of superficial mycoses performed between 2005 and 2011 were reviewed. RESULTS Of 9042 direct microscopic examinations, 2626 (29%) were positive for dermatophytes, 205 (2.3%) were positive for Malassezia, 191 (2.1%) were positive for other types of yeast, 48 (0.5%) were positive for bacteria, and 5972 (66%) were negative. Mean age of patients was 48 years, 6920 (77%) patients were female and 2112 (23%) were male. CONCLUSION The biota consisted of six dermatophyte species: T. rubrum, T. mentagrophytes, M. gypseum, T. tonsurans, E. floccosum, and M. canis. The most common site of involvement was the nail and foot in adults and scalp in children, with a female predominance. Both Candida and Malassezia were more prevalent in adult women, the former most commonly affecting the interdigital region and nails and the latter the chest and neck. PMID:24626650

  16. Superficial mycoses at the Hospital do Servidor Público Municipal de São Paulo between 2005 and 2011.

    PubMed

    Di Chiacchio, Nilton; Madeira, Celso Luiz; Humaire, Caio Rosa; Silva, Camila Simon; Fernandes, Lucia Helena Gomes; Dos Reis, Ana Lucia

    2014-01-01

    Superficial mycoses are fungal infections limited to the outermost layers of the skin. Dermatophytic filamentous fungi and yeasts are the major causative agents of these mycoses. Dermatophytosis is one of the clinical conditions caused by fungal infections most commonly found in dermatological practice. Thus, knowledge of the ecology of dermatophytes provides a better understanding of the natural history of dermatophytosis. This study aimed to investigate epidemiological and mycological features of superficial mycoses diagnosed from 2005 to 2011 in the Dermatology Clinic of the Hospital do Servidor Público Municipal de São Paulo, Brazil. This retrospective study was conducted in the Laboratory of Medical Mycology at the Dermatology Clinic of the Hospital do Servidor Público Municipal de São Paulo. Mycological examinations of 9042 patients with clinical suspicion of superficial mycoses performed between 2005 and 2011 were reviewed. Of 9042 direct microscopic examinations, 2626 (29%) were positive for dermatophytes, 205 (2.3%) were positive for Malassezia, 191 (2.1%) were positive for other types of yeast, 48 (0.5%) were positive for bacteria, and 5972 (66%) were negative. Mean age of patients was 48 years, 6920 (77%) patients were female and 2112 (23%) were male. The biota consisted of six dermatophyte species: T. rubrum, T. mentagrophytes, M. gypseum, T. tonsurans, E. floccosum, and M. canis. The most common site of involvement was the nail and foot in adults and scalp in children, with a female predominance. Both Candida and Malassezia were more prevalent in adult women, the former most commonly affecting the interdigital region and nails and the latter the chest and neck.

  17. On Immuno-Allergic Reactions of Patients with Mycoses due to Trichophyton rubrum and to Some Zoophilic Fungi,

    DTIC Science & Technology

    Allergy and autoimmune processes were found in patients with onychomycosis caused by Tr. rubrum and with mycoses caused by Tr. gypseum and Tr...with experimental mycoses caused by Tr. gypseum and onychomycosis caused by Tr. rubrum.

  18. Vaccine-induced protection against 3 systemic mycoses endemic to North America requires Th17 cells in mice.

    PubMed

    Wüthrich, Marcel; Gern, Benjamin; Hung, Chiung Yu; Ersland, Karen; Rocco, Nicole; Pick-Jacobs, John; Galles, Kevin; Filutowicz, Hanna; Warner, Thomas; Evans, Michael; Cole, Garry; Klein, Bruce

    2011-02-01

    Worldwide rates of systemic fungal infections, including three of the major pathogens responsible for such infections in North America (Coccidioides posadasii, Histoplasma capsulatum, and Blastomyces dermatitidis), have soared recently, spurring interest in developing vaccines. The development of Th1 cells is believed to be crucial for protective immunity against pathogenic fungi, whereas the role of Th17 cells is vigorously debated. In models of primary fungal infection, some studies have shown that Th17 cells mediate resistance, while others have shown that they promote disease pathology. Here, we have shown that Th1 immunity is dispensable and that fungus-specific Th17 cells are sufficient for vaccine-induced protection against lethal pulmonary infection with B. dermatitidis in mice. Further, vaccine-induced Th17 cells were necessary and sufficient to protect against the three major systemic mycoses in North America. Mechanistically, Th17 cells engendered protection by recruiting and activating neutrophils and macrophages to the alveolar space, while the induction of Th17 cells and acquisition of vaccine immunity unexpectedly required the adapter molecule Myd88 but not the fungal pathogen recognition receptor Dectin-1. These data suggest that human vaccines against systemic fungal infections should be designed to induce Th17 cells if they are to be effective.

  19. Update on therapy for superficial mycoses: review article part I*

    PubMed Central

    Dias, Maria Fernanda Reis Gavazzoni; Quaresma-Santos, Maria Victória Pinto; Bernardes-Filho, Fred; Amorim, Adriana Gutstein da Fonseca; Schechtman, Regina Casz; Azulay, David Rubem

    2013-01-01

    Superficial fungal infections of the hair, skin and nails are a major cause of morbidity in the world. Choosing the right treatment is not always simple because of the possibility of drug interactions and side effects. The first part of the article discusses the main treatments for superficial mycoses - keratophytoses, dermatophytosis, candidiasis, with a practical approach to the most commonly-used topical and systemic drugs , referring also to their dosage and duration of use. Promising new, antifungal therapeutic alternatives are also highlighted, as well as available options on the Brazilian and world markets. PMID:24173183

  20. Current concepts in systemic and topical therapy for superficial mycoses.

    PubMed

    Millikan, Larry E

    2010-03-04

    There presently exists a wide selection of choices in the treatment of superficial mycoses. The main categories of broad-spectrum agents are the allylamines and imidazoles, which have been tried and proven over more than 2 decades of usage with good safety. Nystatin and griseofulvin have even longer experience of about 5 decades but have niche usage for yeasts and dermatophytes, respectively. Although no new therapeutic groups have appeared, extensive development of vehicles and delivery systems has enhanced therapeutic results and increased patient compliance.

  1. Human mycoses and advances in antifungal therapy.

    PubMed

    Fromtling, R A

    2001-04-01

    The 11th Focus on Fungal Infections meeting was held in Washington, D.C., U.S.A., March 1416, 2001. At the conference, there were well-attended sessions that focused on the pathogenesis and therapy of fungal disease. This report focuses on new information on fungal incidence and pathogenesis as well as on the in vitro and clinical experience of established antifungal drugs (fluconazole, itraconazole, amphotericin B, liposomal formulations of amphotericin B, terbinafine) and the newer antifungal compounds approved for use (e.g., caspofungin) and in development (the new-generation azoles: voriconazole, posaconazole, ravuconazole, and the candins, micafungin and anidulafungin).

  2. [Cutaneous mycoses in Japan originating from animals].

    PubMed

    Kano, Rui

    2012-01-01

    Human cases of dermatophytoses are occasionally transmitted from animals, and suffered from tinea corporis and sometimes Kerion celsi. The most frequent causative agent of these diseases is Microsporum canis. The other dermatophyte, Arthroderma benhamiae is now prevailing in rabbits, rodents and hedgehogs that are popular household pets in Japan. Therefore, some human cases of A. benhamiae infection were reported and the transmission of this infection from rabbits and rodents was confirmed.Cryptococcosis is regarded as dangerous zoonosis, but its transmission from animal to peoples has not been documented in Japan. Animal cases of cryptococcosis are possible to increase in number by developing immunosuppressive animals as well as by spreading of newly introduced C. gattii to Japan.Animal cases of sporotrichosis are rarely reported in Japan. However, feline sporotrichosis should be prevented and promptly treated since it easily transmitted to people from cat lesions and the exudates where copious numbers of organisms are found in tissues.

  3. A practical method to detect mycoses of the nails.

    PubMed

    Goihman-Yahr, Mauricio; Franco-Arcia, Francisco; Maldonado, Carlota

    2015-01-01

    The authors present a method that allows for reliable identification of fungal structures in nails with suspected colonization by fungi. The method is based on the well-known technique of heating nail fragments in 20% potassium hydroxide, but its details allow for reliable and quick processing of samples, when convenient. The method requires simple equipment and is designed for individual practices but might be employed as is or with minor technical improvements by a dermatology department. Minor changes will make it feasible to simultaneously process several samples. The results that were obtained show that while experienced clinicians achieve positive clinical diagnoses in the majority of instances, inaccuracies occur in a sizable proportion of cases. In addition, the varied combination of yeasts and hyphae that were found, bolster the view that microscopic examination is necessary to justify and optimize systemic treatment of mycoses of the nails. Our technique permits the processing and observation of the totality of samples obtained from a single nail or several nails.

  4. Epidemiology of visceral mycoses in autopsy cases in Japan: comparison of the data from 1989, 1993, 1997, 2001, 2005 and 2007 in Annual of Pathological Autopsy Cases in Japan.

    PubMed

    Kume, Hikaru; Yamazaki, Toshikazu; Togano, Tomiteru; Abe, Michiko; Tanuma, Hiroyuki; Kawana, Seiji; Okudaira, Masahiko

    2011-01-01

    The data on visceral mycoses reported in the " Annual of Pathological Autopsy Cases in Japan " were analyzed epidemiologically every four years from 1989 to 2005, and in 2007. The frequency rates of visceral mycoses dropped sharply between 1989 (4.5%) and 1994 (3.2%), but by 2001 had risen again and have remained (4.4-4.6%) generally stable since then. The predominant causative agents were Candida and Aspergillus. Although the rate of candidosis showed a gradual decrease, the rate of aspergillosis showed an increase by degrees. Furthermore, the rate of aspergillosis exceeded that of candidosis in 1994, and the difference in the rates between the two conditions apparently further increased until 2001. After 2005, however no changes in this difference were observed. For complicated infections, the incidence of coinfection with Aspergillus and Candida showed a decreasing, and that with Aspergillus and Zygomycetes showed an increasing tendency. Severe infections with Zygomycetes showed a clear increase from 57.4% in 1989 to 88.9% in 2007. Comparing underlying diseases with mycoses in 1989 and 2007, leukemia (including myelodysplastic syndrome) decreased from 26.1% to 18.8% and bacterial infections (including interstitial pneumonia) increased from 11.1% to 22.1%. By age, the highest frequency rate of mycoses was observed in the range of 60-79 years, and the frequency rate of exogenous fungal infections such as aspergillosis, cryptococcosis, zygomycosis and trichosporonosis showed an increasing trend in the less than one-year old group.

  5. Fungal diseases of horses.

    PubMed

    Cafarchia, Claudia; Figueredo, Luciana A; Otranto, Domenico

    2013-11-29

    Among diseases of horses caused by fungi (=mycoses), dermatophytosis, cryptococcosis and aspergillosis are of particular concern, due their worldwide diffusion and, for some of them, zoonotic potential. Conversely, other mycoses such as subcutaneous (i.e., pythiosis and mycetoma) or deep mycoses (i.e., blastomycosis and coccidioidomycosis) are rare, and/or limited to restricted geographical areas. Generally, subcutaneous and deep mycoses are chronic and progressive diseases; clinical signs include extensive, painful lesions (not pathognomonic), which resemble to other microbial infections. In all cases, early diagnosis is crucial in order to achieve a favorable prognosis. Knowledge of the epidemiology, clinical signs, and diagnosis of fungal diseases is essential for the establishment of effective therapeutic strategies. This article reviews the clinical manifestations, diagnosis and therapeutic protocols of equine fungal infections as a support to early diagnosis and application of targeted therapeutic and control strategies.

  6. 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

  7. 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.

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

    PubMed

    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.

  9. Oral mycoses in avian scavengers exposed to antibiotics from livestock farming.

    PubMed

    Pitarch, Aida; Gil, Concha; Blanco, Guillermo

    2017-12-15

    The exposure to antimicrobial pharmaceuticals as environmental contaminants can exert direct and indirect detrimental effects on health of wildlife. Fungal infections pose a major threat to domestic, captive-housed wild and free-ranging wild animals worldwide. However, little is known about their role in disease in birds in the wild. Here, we evaluated the incidence of thrush-like lesions in the oral cavity of wild nestling cinereous vultures (Aegypius monachus), griffon vultures (Gyps fulvus), Egyptian vultures (Neophron percnopterus) and golden eagles (Aquila chrysaetos) exposed to veterinary antibiotics via the consumption of medicated livestock carcasses. Lesions, which varied in number, size and location, were more frequent in the cinereous (77.8%, n=9) and griffon vultures (66.7%, n=48) than in the Egyptian vultures (28.6%, n=21) and golden eagles (28.6%, n=7). In all individuals (100%, n=24) of a subsample of the affected nestlings, yeast species were isolated from thrush-like oral lesions and identified using a well-established system based on their carbohydrate assimilation profiles and other complementary tests. Fourteen yeast species from seven genera (Candida, Meyerozyma, Pichia, Yarrowia, Cryptococcus, Rhodotorula and Trichosporon) were isolated from the lesions of the four host species. We found differential infections and effects depending on host age-related exposure or susceptibility to different yeast species across the development of nestling griffon vultures. This unprecedented outbreak of oral mycoses is alarming because of the delicate conservation status of several of the affected species. The role of livestock antibiotics in the transition of yeast species from commensal to opportunistic pathogens should be evaluated in an attempt to avoid the detrimental effects of contamination and disease on host health, as well as on the transmission of fungal emerging pathogens among wildlife populations and species, and their dissemination across

  10. 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

  11. Acidophilic actinobacteria synthesised silver nanoparticles showed remarkable activity against fungi-causing superficial mycoses in humans.

    PubMed

    Anasane, N; Golińska, P; Wypij, M; Rathod, D; Dahm, H; Rai, M

    2016-03-01

    Superficial mycoses are limited to the most external part of the skin and hair and caused by Malassezia sp., Trichophyton sp. and Candida sp. We report extracellular biosynthesis of silver nanoparticles (AgNPs) by acidophilic actinobacteria (SF23, C9) and its in vitro antifungal activity against fungi-causing superficial mycoses. The phylogenetic analysis based on the 16S rRNA gene sequence of strains SF23 and C9 showed that they are most closely related to Pilimelia columellifera subsp. pallida GU269552(T). The detection of AgNPs was confirmed by visual observation of colour changes from colourless to brown, and UV-vis spectrophotometer analysis, which showed peaks at 432 and 427 nm, respectively. These AgNPs were further characterised by nanoparticle tracking analysis (NTA), Zeta potential, Fourier-transform infrared spectroscopy (FTIR) and transmission electron microscopy (TEM). The FTIR analysis exhibited the presence of proteins as capping agents. The TEM analysis revealed the formation of spherical and polydispersed nanoparticles in the size range of 4-36 nm and 8-60 nm, respectively. The biosynthesised AgNPs were screened against fungi-causing superficial mycoses viz., Malassezia furfur, Trichophyton rubrum, Candida albicans and C. tropicalis. The highest antifungal activity of AgNPs from SF23 and C9 against T. rubrum and the least against M. furfur and C. albicans was observed as compared to other tested fungi. The biosynthesised AgNPs were found to be potential anti-antifungal agent against fungi-causing superficial mycoses. © 2015 Blackwell Verlag GmbH.

  12. Parasitoses and mycoses--still current public health hazards.

    PubMed

    Wójcik, Anna; Błaszkowska, Joanna

    2013-01-01

    Current environmental aspects of parasitological and mycological diseases, diagnostics problems and some mechanisms of pathogens' action facilitating invasion of human organisms have been presented. Imported humans parasitoses, difficulties in diagnosis and treatment, possibility of expansion of the endemic pathogens' occurrence ranges have been discussed. Mycological topics included evaluation of the role of birds as vectors of potentially pathogenic fungi in biosphere, threats connected with biofilms formation in hospital and home environments, and interrelations among microorganisms in such biofilms.

  13. [Skin diseases and tropical medicine. Results from a prospective study (2004-2007)].

    PubMed

    Ramírez-Olivencia, G; Bru Gorraiz, F J; Rivas González, P; Lago Núñez, M; Herrero Mendoza, M D; Puente Puente, S

    2009-12-01

    An increase of international trips has been taken place in recent years, being Spain one of the principal issuing countries of internationl tourism. Dermatological diseases returning from tropical areas are frequent causes of medical consultation. Etiology is varied. OBJECTIVE. The aims of the present study are: to evaluate the importance of dermatological pathology in patients who come to a consultation of Tropical Medicine; to analyze the influence of duration, motive and the destination of the trip; and to describe the most frequent entities. An observational prospective study was realized, including all Spanish people older than 18 years-old who came to a consultation of Tropical Medicine. The period of study was between January 1st, 2004 and December 31st, 2007. Epidemiological and clinical items were collected from the group of patients with dermatological pathology. There were attended 3,351 new consultations, with 660 cases of skin diseases. The infectious pathology constituted an almost the half (48.5%) of the dermatological pathology (320 cases). The injuries more frequently described were associated with stings arthropods (113 cases) and cutaneous larva migrans (CLM) (84), mycoses (52) and urticaria (43). The appearance of dermatosis in the travelers seems to be determined by the motive, the duration and the destination. Given the heterogeneity of the pathology, the recognition of the injuries is fundamental to initiate the suitable treatment.

  14. Superficial mycoses in Paraíba: a comparative analysis and bibliographical revision.

    PubMed

    Araújo, Guilherme de Medeiros Lins de; Araújo, Nilberto Dias de; Farias, Rodrigo Pessoa de; Cavalcanti, Francinete Carla Nunes; Lima, Maria do Livramento Ferreira; Braz, Ricardo Antonio Faustino da Silva

    2010-01-01

    A survey of the incidence of clinically diagnosed cases of superficial mycosis was carried out using individual report cards in four Family Health units in Patos-PB, in 2007. We had a sample of 197 positive records with Pityriasis and Tinea as the most incident mycoses. There was a higher prevalence among female patients who were between 11 - 20 years of age. A high number of non-identified infections was found: 46,19%. The identification of the agents of such non-identified infections is not possible as they are not infections of compulsory notification.

  15. Mortality due to systemic mycoses as a primary cause of death or in association with AIDS in Brazil: a review from 1996 to 2006.

    PubMed

    Prado, Marli; Silva, Marcelo Barbosa da; Laurenti, Ruy; Travassos, Luiz R; Taborda, Carlos P

    2009-05-01

    Deaths caused by systemic mycoses such as paracoccidioidomycosis, cryptococcosis, histoplasmosis, candidiasis, aspergillosis, coccidioidomycosis and zygomycosis amounted to 3,583 between 1996-2006 in Brazil. When analysed as the underlying cause of death, paracoccidioidomycosis represented the most important cause of deaths among systemic mycoses (approximately 51.2%). When considering AIDS as the underlying cause of death and the systemic mycoses as associated conditions, cryptococcosis (50.9%) appeared at the top of the list, followed by candidiasis (30.2%), histoplasmosis (10.1%) and others. This mortality analysis is useful in understanding the real situation of systemic mycoses in Brazil, since there is no mandatory notification of patients diagnosed with systemic mycoses in the official health system.

  16. Dermatophyte species in superficial mycoses in the Kraków district, Poland in the years 1972-2007.

    PubMed

    Macura, A B; Krzyściak, P; Skóra, M; Gniadek, A

    2010-03-01

    Considerable changes in the dermatophyte spectrum have been observed in the past century. Hence, many authors point out the necessity of performing periodical overviews of the mycological flora producing mycoses in humans in a given area. Analysis of dermatophyte species was performed, which were isolated from the lesions in patients suspected of superficial mycosis and referred to the Department of Mycology. The materials were isolated from patients suspected of superficial mycosis from Kraków region from January 1, 1972 through December 31, 2007. A total of 4983 dermatophyte strains were isolated from 23 124 specimens, which amounts to 21.5%. The percentage of dermatophytes isolated in the past decade decreased to 13.1% in the year 2007. Trichophyton rubrum outnumbered Trichophyton mentagrophytes during the entire survey period: 62.4 vs. 33.5%. The participation of Microsporum canis amounted to 1.71% and that of Epidermophyton floccosum to 1.32%. The species M. canis appeared by the end of the 1980s. The remaining dermatophyte species comprised 1% of the isolates. A considerable decrease in dermatophyte isolations has been observed since 2000. Trichophyton rubrum outnumbered T. mentagrophytes during the entire period of study. The percentages of T. rubrum and T. mentagrophytes are decreasing while the percentages of other dermatophytes are slowly increasing.

  17. Relevance of Candida and other mycoses for morbidity and mortality in severe sepsis and septic shock due to peritonitis.

    PubMed

    Lichtenstern, Christoph; Herold, Christina; Mieth, Markus; Brenner, Thorsten; Decker, Sebastian; Busch, Cornelius J; Hofer, Stefan; Zimmermann, Stefan; Weigand, Markus A; Bernhard, Michael

    2015-07-01

    This single-centre retrospective cohort study evaluated the incidence and outcome of mycoses in critical ill patients (n = 283) with sepsis due to peritonitis. Overall mortality was 41.3%, and the 28-day mortality was 29.3%. Fungal pathogens were found in 51.9%. The common first location was the respiratory tract (66.6%), followed by the abdominal site (19.7%). Candida colonisation was found in 64.6%, and invasive Candida infection in 34.0%. Identified fungi were Candida spp. in 98.6% and Aspergillus spp. in 6.1%. Patients with fungal pathogens showed a higher rate of postoperative peritonitis, APACHE II and tracheotomy. In comparison to patients without fungal pathogens, these patients showed a longer duration on mechanical ventilation, and a higher overall mortality. Patients with Candida-positive swabs from abdominal sites had more fascia dehiscence and anastomosis leakage. Seventy-two patients (48.9%) received antifungal therapy, 26 patients were treated empirically. Antifungal therapy was not associated with a decrease in mortality. Age and renal replacement therapy were associated with mortality. In conclusion, fungi are common pathogens in critically ill patients with peritonitis, and detection of fungi is associated with an increase in overall mortality. Particularly, Candida-positive abdominal swabs are associated with an increase in morbidity. However, we were not able to demonstrate a survival benefit for antifungal therapy in peritonitis patients. © 2015 Blackwell Verlag GmbH.

  18. [Role of voriconazole in critically ill patients with invasive mycoses].

    PubMed

    Alvarez Lerma, Francisco

    2007-09-30

    This observational study of the use of voriconazole conducted in Spain has identified reasons, characteristics, and forms of use of voriconazole in critically ill patients admitted to the ICU. Voriconale was used for directed treatment (63%), by the intravenous route (75%), as rescue treatment (41%) in severely ill patients (APACHE 21) with high need of resources and therapeutic interventions. Satisfactory clinical response was obtained in 50% of cases, related adverse events were scarce (16%), and withdrawal of voriconazole was not necessary. Clinical indications included empirical, etiologic, and rescue treatment of infections caused by Aspergillus, Candida albicans and most species different than C. albicans. Voriconazole can be used for preemptive therapy in patients at risk of invasive candidasis. When selecting voriconazole, liver function, renal function (i.v. formulation) and history of azoles use should be considered, although none of these circumstances is an absolute contraindication for the prescription of voriconazole in critically ill patients.

  19. [Selected aspects of modern epidemiology of ENT-mycoses].

    PubMed

    Kriukov, A I; Kunel'skaia, V Ia; Shadrin, G B

    2011-01-01

    The prevalence of mycosis affecting ears, nose, and throat was analysed based on the literature data and the results of original observations of 3964 patients who applied for medical aid to the counseling department of our centre during the period from 2005 to 2007. The study revealed a relative increase in the occurrence of ear, nose, and throat mycosis in the structure of chronic inflammatory pathology. Specifically, the frequency of mycotic otitis rose to 25.2%, mycotic infestation of the pharynx in patients with pharyngitis and tonsillitis to 28.7%, mycotic infestation of the larynx associated with chronic laryngitis to 20%, and mycosis in patients presenting with chronic inflammation of the nasal cavity or paranasal sinuses to 7%. The spectrum of pathogenic fungi affecting ears, nose, and throat has been identified. The enhanced contribution of various non-albicans Candida strains to the development of chronic inflammation is documented. Aspergillus species are shown to play the increasingly more important role in the affection of palatal tonsils, laryngeal and pharyngeal mucosa.

  20. Coccidioidomycosis and other systemic mycoses of marine mammals stranding along the central California, USA coast: 1998-2012.

    PubMed

    Huckabone, Sara E; Gulland, Frances M D; Johnson, Suzanne M; Colegrove, Kathleen M; Dodd, Erin M; Pappagianis, Demosthenes; Dunkin, Robin C; Casper, David; Carlson, Erin L; Sykes, Jane E; Meyer, Weiland; Miller, Melissa A

    2015-04-01

    A wide range of systemic mycoses have been reported from captive and wild marine mammals from North America. Examples include regionally endemic pathogens such as Coccidioides and Blastomyces spp., and novel pathogens like Cryptococcus gattii, which appear may have been introduced to North America by humans. Stranding and necropsy data were analyzed from three marine mammal stranding and response facilities on the central California coast to assess the prevalence, host demographics, and lesion distribution of systemic mycoses affecting locally endemic marine mammals. Between 1 January 1998 and 30 June 2012, >7,000 stranded marine mammals were necropsied at the three facilities. Necropsy and histopathology records were reviewed to identify cases of locally invasive or systemic mycoses and determine the nature and distribution of fungal lesions. Forty-one animals (0.6%) exhibited cytological, culture- or histologically confirmed locally invasive or systemic mycoses: 36 had coccidioidomycosis, two had zygomycosis, two had cryptococcosis, and one was systemically infected with Scedosporium apiospermum (an Ascomycota). Infected animals included 18 California sea lions (Zalophus californianus), 20 southern sea otters (Enhydra lutris nereis), two Pacific harbor seals (Phoca vitulina richardsi), one Dall's porpoise (Phocoenoides dalli), and one northern elephant seal (Mirounga angustirostris). Coccidioidomycosis was reported from 15 sea lions, 20 sea otters, and one harbor seal, confirming that Coccidioides spp. is the most common pathogen causing systemic mycosis in marine mammals stranding along the central California coast. We also report the first confirmation of C. gattii infection in a wild marine mammal from California and the first report of coccidioidomycosis in a wild harbor seal. Awareness of these pathogenic fungi during clinical care and postmortem examination is an important part of marine mammal population health surveillance and human health protection

  1. Caspofungin for the treatment of invasive fungal disease in hematological patients (ProCAS Study).

    PubMed

    Jarque, I; Tormo, M; Bello, J L; Rovira, M; Batlle, M; Julià, A; Tabares, S; Rivas, C; Fernández-Sevilla, A; García-Boyero, R; Debén, G; González-Campos, J; Capote, F J; Sanz, M A

    2013-02-01

    Caspofungin is an echinocandin with proven efficacy in invasive candidiasis (IC) and invasive aspergillosis (IA). This multicenter, prospective, non-comparative, observational ProCAS study was aimed to assess the effectiveness and safety of caspofungin in adult hematological patients with IC or IA under everyday clinical conditions. Favorable outcomes included complete and partial responses on the last day of caspofungin therapy. Safety was assessed up to 14 days post-caspofungin. A total of 115 patients (69 male) with a median age of 52 years (range, 23-78 years) were analyzed. Underlying disease was acute myeloid leukemia in 45 patients (39%), and 21 (18%) were allogeneic stem cell transplant recipients. Thirty-four (29.5%) patients had a diagnosis of IA and 26 (22.6%) had IC (candidemia). The median duration of caspofungin therapy was 14 days (range, 1-100). The overall favorable response rate was 77% (20/26) for patients with IC (69% first-line) and 79% (27/34) for those with IA. Antifungal therapy with caspofungin was generally well tolerated, only two (1.7%) patients having a non-serious drug-related adverse reaction. These results suggest that caspofungin, either alone or in combination, should be considered an effective and safe option for the treatment of invasive mycoses in patients with severe hematological disorders.

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

    PubMed Central

    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.

  3. Clinical Use of Fungal PCR from Deep Tissue Samples in the Diagnosis of Invasive Fungal Diseases - A Retrospective, Observational Study.

    PubMed

    Ala-Houhala, Mari; Koukila-Kähkölä, Pirkko; Antikainen, Jenni; Valve, Jaana; Kirveskari, Juha; Anttila, Veli-Jukka

    2017-09-01

    We evaluated the clinical use of panfungal polymerase chain reaction (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. Secondly, we retrospectively evaluated the results of 307 fungal PCR tests performed from 2013-2015. Samples were taken from normally sterile tissues and fluids. The patient population was non-selected. 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), compering the fungal PCR results to the likelihood of IFD along with the culture and microscopy results. There were 48 (16%) positive and 259 (84%) negative PCR results. The sensitivity and specificity of PCR for diagnosing invasive fungal disease were 60.5% and 91.7%, respectively, while the NPV and PPV 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. Published by Elsevier Ltd.

  4. Fungal colonization - an additional risk factor for diseased dogs and cats?

    PubMed

    Biegańska, Małgorzata; Dardzińska, Weronika; Dworecka-Kaszak, Bożena

    2014-01-01

    The aim of the presented mini-review is to review the literature data referring to opportunistic mycoses in pet dogs and cats suffering from other concurrent diseases, comparable to human medical disorders with high risk of secondary mycoses. This review also presents the preliminary results of a project aimed at understanding the fungal colonization and occurrence of secondary mycoses in pets suffering from metabolic disorders, neoplasms and viral infections. The incidence of opportunistic mycoses is higher in such individuals, mostly because of their impaired immunity. The main risk factors are primary and secondary types of immunodeficiency connected with anti-cancer treatment or neoplastic disease itself. Moreover, literature data and the results of our investigations show that Candida yeasts are prevalent among diabetic animals and indicate that these fungi are the main etiological agents of secondary infections of the oral cavity, GI and urogenital tracts. Other important conditions possibly favoring the development of mycoses are concurrent infections of cats with FeLV and FIV viruses. Thus, in all cases of the mentioned underlying diseases, animals should be carefully monitored by repeated mycological examination, together with inspection of other parameters. Also, the prophylaxis of opportunistic mycoses should be carefully considered alike other factors influencing the prognosis and the outcome of primary diseases.

  5. Sertaconazole: a review of its use in the management of superficial mycoses in dermatology and gynaecology.

    PubMed

    Croxtall, Jamie D; Plosker, Greg L

    2009-01-01

    Sertaconazole (Dermofix, Ertaczo, Ginedermofix, Monazol, Mykosert or Zalain), an imidazole antifungal agent, inhibits the synthesis of ergosterol, an essential cell wall component of fungi. It is indicated in the EU for the treatment of superficial skin mycoses such as dermatophytosis (including tinea corporis, tinea cruris, tinea manus, tinea barbae and tinea pedis), cutaneous candidiasis, pityriasis versicolor and seborrhoeic dermatitis of the scalp, and in the US for tinea pedis only. Sertaconazole has broad-spectrum antifungal activity against dermatophytes of the Trichophyton, Epidermophyton and Microsporum genera, and yeasts of the genera Candida and Cryptococcus; additionally, it is effective against opportunistic filamentous fungi and Gram-positive bacteria. Moreover, the antifungal activity of sertaconazole is maintained in clinical isolates of dermatophytes that show reduced susceptibility to other azoles. While the drug has good dermal penetration, this is not associated with systemic absorption. In clinical trials in patients with superficial mycoses, 2% sertaconazole cream applied twice daily was effective in the eradication of a range of dermatophytoses, and a significantly greater proportion of patients were cured compared with those receiving 2% miconazole cream twice-daily treatment. In patients with vulvovaginal candidiasis, sertaconazole as a single-dose ovule or tablet was effective in the eradication of Candida spp., and achieved both a more rapid and a higher cure rate compared with a triple dose of econazole. Both as a topical cream and suppository preparation, sertaconazole was generally well tolerated. Sertaconazole is a well established antifungal agent, which is now available in a variety of formulations, and remains a useful treatment option particularly in patients with fungal infections resistant to other azoles. Like other azoles, sertaconazole inhibits the synthesis of ergosterol, an essential component of fungal cell walls

  6. Oral mycoses and other opportunistic infections in HIV: therapy and emerging problems - a workshop report.

    PubMed

    Vidya, K M; Rao, U K; Nittayananta, W; Liu, H; Owotade, F J

    2016-04-01

    Oral mycoses and other opportunistic infections are recognized features of HIV infection even after four decades of the epidemic. The therapeutic options, challenges of therapy, and evolving patterns of opportunistic infections were evaluated by the workshop. It was observed that high Candida counts and infection are still more prevalent in HIV-positive individuals even in the era of antiretroviral therapy. Furthermore, one or more non-Candida albicans are present in some HIV-positive individuals. While Candida species are more virulent in HIV infection, similar virulence may be present in other states of immunosuppression. Consequently, the interplay between host factors and virulence ultimately determines the clinical outcomes. Adverse clinical outcomes such as candidemia and other deep fungal infections are on the increase in HIV infection. Disseminated histoplasmosis and penicilliosis have been reported, especially with low CD4 counts. Even with advances in antifungal therapy, mortality and morbidity from deep fungal infections have not changed significantly. In addition, long-term exposure to common antifungal drugs such as fluconazole has led to the development of antifungal resistance in 6% to 36%. Development of new antifungal therapeutic agents and the use of alternative therapies may offer breakthrough. In addition, effective strategies to enhance the host immune status are being explored. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Invasive aspergillosis. Disease spectrum, treatment practices, and outcomes. I3 Aspergillus Study Group.

    PubMed

    Patterson, T F; Kirkpatrick, W R; White, M; Hiemenz, J W; Wingard, J R; Dupont, B; Rinaldi, M G; Stevens, D A; Graybill, J R

    2000-07-01

    A review of representative cases of invasive aspergillosis was conducted to describe current treatment practices and outcomes. Eighty-nine physicians experienced with aspergillosis completed case forms on 595 patients with proven or probable invasive aspergillosis diagnosed using modifications of the Mycoses Study Group criteria. Pulmonary disease was present in 56%, with disseminated infection in 19%. The major risk factors for aspergillosis were bone marrow transplantation (32%) and hematologic malignancy (29%), but patients had a variety of underlying conditions including solid organ transplants (9%), AIDS (8%), and pulmonary diseases (9%). Overall, high antifungal failure rates occurred (36%), and complete antifungal responses were noted in only 27%. Treatment practices revealed that amphotericin B alone (187 patients) was used in most severely immunosuppressed patients while itraconazole alone (58 patients) or sequential amphotericin B followed by itraconazole (93 patients) was used in patients who were less immunosuppressed than patients receiving amphotericin B alone. Response rate for patients receiving amphotericin B alone was poor, with complete responses noted in only 25% and death due to or with aspergillosis in 65%. In contrast, patients receiving itraconazole alone or following amphotericin B had death due to or with Aspergillus in 26% and 36%, respectively. These results confirm that mortality from invasive aspergillosis in severely immunosuppressed patients remains high even with standard amphotericin B. Improved responses were seen in the less immunosuppressed patients receiving sequential amphotericin B followed by itraconazole and those receiving itraconazole alone. New approaches and new therapies are needed to improve the outcome of invasive aspergillosis in high-risk patients.

  8. Study Links Celiac Disease, Anorexia

    MedlinePlus

    ... news/fullstory_164453.html Study Links Celiac Disease, Anorexia Chances of being diagnosed with eating disorder were ... face a heightened risk of being diagnosed with anorexia, a new study suggests. The Swedish researchers found ...

  9. Skin and subcutaneous mycoses in tilapia (Oreochromis niloticus) caused by Fusarium oxysporum in coinfection with Aeromonas hydrophila.

    PubMed

    Cutuli, M Teresa; Gibello, Alicia; Rodriguez-Bertos, Antonio; Blanco, M Mar; Villarroel, Morris; Giraldo, Alejandra; Guarro, Josep

    2015-09-01

    Subcutaneous mycoses in freshwater fish are rare infections usually caused by oomycetes of the genus Saprolegnia and some filamentous fungi. To date, Fusarium infections in farmed fish have only been described in marine fish. Here, we report the presence of Fusarium oxysporum in subcutaneous lesions of Nile tilapia (Oreochromis niloticus). Histopathologic evaluation revealed granuloma formation with fungal structures, and the identity of the etiological agent was demonstrated by morphological and molecular analyses. Some of the animals died as a result of systemic coinfection with Aeromonas hydrophila.

  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. 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.

  12. [Epidemiological transition of mycosis diseases in sub-Saharan Africa: from surface to depth].

    PubMed

    Chandenier, J; Desoubeaux, G

    2015-02-01

    Fungi are schematically responsible for three distinct kinds of infections: superficial mycoses, subcutaneous and deep ones. The current socio-epidemiological transition observed in sub-Saharan Africa does not actually lead to similar consequences regarding these three categories of fungal entities. For instance, it has long been known that superficial mycoses are very prevalent in tropical areas, since they are partly due to the warm climate and the promiscuity. They are mostly caused by dermatophytic fungi or Malassezia sp. (Pityriasis versicolor). Subcutaneous mycoses are rarer, and usually due to dimorphic fungi which are accidentally inoculated into the body after a skin injury or a trauma. Sometimes very spectacular, the clinical outcome is then described as chronic. Thus, chromoblastomycosis, rhinoentomophtoromycosis or mycetoma are some examples of subcutaneous mycoses which remain well-known by practitioners of endemic countries. Deep mycoses (or invasive / systemic mycoses) are defined by fungal infections of deep anatomical sites that should be normally sterile. By contrast with the other entities mentioned above, the outcome may be rapidly fatal for the patient. One of the most outstanding examples was the great increasing of cryptococcal meningitis during the HIV outbreak in the 80'. A few other similar mycoses may be feared in a near future, since they usually occur in contexts of important immunosuppression which are about to be definitely experienced in Africa: overall increase of chronic diseases like diabetes, lengthening life expectancy and its associated diseases, widespread medical practices which were only seen in advanced intensive care units, onco-haematology departments or graft centers so far. Thus, the deep mycoses will inevitably increase in Africa, as they did in all developed countries over the last two decades. The consequences will not only be limited to the clinical management as described above: the diagnostic approach is also

  13. Serious fungal diseases in the Republic of Uzbekistan.

    PubMed

    Tilavberdiev, S A; Denning, D W; Klimko, N N

    2017-03-14

    We have undertaken the first and preliminary estimation of severe and chronic mycotic diseases in the Republic of Uzbekistan, using a model proposed by LIFE (Leading International Fungal Education). Calculation was carried out based on data from 2014. Published results describing mycoses in Uzbekistan were identified. In the absence of published or official data, information about the frequency of mycoses from scientific literature elsewhere in groups at risk of development of fungal infections were taken into account. We also utilized methodology used in analogous estimations of mycoses in the Russian Federation. We estimate that of the 30.8 million population, 536,978 people (1.8% of the population) were affected by severe and chronic mycotic diseases. In 2014, there were 12,351 cases of acute invasive fungal diseases and 524,627 cases of chronic fungal diseases, including 1,941 cases of chronic pulmonary aspergillosis. The most frequent problems were recurrent vulvovaginal candidiasis (513,600 cases), trichophytosis of the scalp (6,414), and relapsed oral candidiasis (4,950). Results of the investigation indicate a significant prevalence of mycoses in the Republic of Uzbekistan.

  14. 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

  15. Studying Polyglutamine Diseases in Drosophila

    PubMed Central

    Xu, Zhen; Tito, Antonio; Rui, Yan-Ning; Zhang, Sheng

    2015-01-01

    Polyglutamine (polyQ) diseases are a family of dominantly transmitted neurodegenerative disorders caused by an abnormal expansion of CAG trinucleotide repeats in the protein-coding regions of the respective disease-causing genes. Despite their simple genetic basis, the etiology of these diseases is far from clear. Over the past two decades, Drosophila has proven to be successful in modeling this family of neurodegenerative disorders, including the faithful recapitulation of pathological features such as polyQ length-dependent formation of protein aggregates and progressive neuronal degeneration. Additionally, it has been valuable in probing the pathogenic mechanisms, in identifying and evaluating disease modifiers, and in helping elucidate the normal functions of disease-causing genes. Knowledge learned from this simple invertebrate organism has had a large impact on our understanding of these devastating brain diseases. PMID:26257024

  16. Immunologic studies in pneumococcal disease.

    PubMed

    Dee, T H; Schiffman, G; Sottile, M I; Rytel, M W

    1977-06-01

    Many patients die from pneumococcal disease despite the availability of effective antimicrobial agents. Immunologic studies including detection, typing, and quantitation of serum pneumococcal capsular polysaccharide (PCP) antigen by counterimmunoelectrophoresis (CIE), quantitation of PCP antibody by radioimmunoassay (RIA), and quantitation of serum complement components C3, C4, and C3PA and serum immunoglobulins IgG, IgM, and IgA by the radial immunodiffusion technique of Mancini were performed with the sera of 18 patients. Five patients died (group I), and 13 survived (group II) pneumococcal infection. Both groups were comparable in age, underlying disease, and leukopenia on admission. All patients of group I and 10 of 13 (77%) of group II patients were bacteremic. Two patients in each group had an extrapulmonary focus infection. PCP antigen was detected in the sera of all group I and nine of 13 group II patients. PCP antigen levels were larger than or equal to 15 microng/ml in four of five group I and two of 13 group II patients (p = 0.022). Levels of antibody to PCP exceeded 100 ng/ml of antibody nitrogen (AbN) in 10 of 12 group II and one of five group I patients (p = 0.027) during the course of illness. All group I patients and three of 12 group II patients had decreased levels of one or more complement components on admission (p less than 0.01). One or more complement components remained decreased until death in four group I patients but returned to normal or elevated levels in all group II patients. No difference in serum immunoglobulin concentrations were found.

  17. Amphotericin B Lipid Complex (Abelcet) in the treatment of invasive mycoses: the North American experience.

    PubMed

    Lister, J

    1996-01-01

    Abelcet, or Amphotericin B lipid Complex, is unique formulation, comprising an equimolar mixture of amphotericin B complexed with two lipids. In preclinical studies, Abelcet was clearly demonstrated to be less toxic than amphotericin B desoxycholate and to be effective in models where amphotericin B was ineffective at its maximum tolerated dose. Pharmacokinetic studies in animals also showed that the concentration of Abelcet in blood is similar or reduced compared to levels seen with conventional amphotericin B, with accumulation in the liver, lungs and spleen. Phase I clinical trials determined the optimum tolerated dose of Abelcet to be 5 mg/kg d-1. Data are now available for 228 cases (including 51 paediatric cases) of invasive fungal infection treated with Abelcet in an open-label emergency-release protocol. All patients had to have failed on previous amphotericin B or other conventional antifungals, or to have unacceptable toxicity on amphotericin B, or underlying renal disease, or nephrotoxicity due to other drugs. Abelcet was administered at a dose of 5 mg/kg d-1 for 4 wk. Approximately one-third of patients had candidiasis, one-third aspergillosis and one-third other infections, including fusariosis. Of 183 cases evaluable for response, 126 (69%) had a clinical response (cure or improvement) which was mycologically confirmed in 55% (61/110 tested). Results in paediatric cases were similar to or better than those seen in the group as a whole. When comparisons were made between cases with different types of infection, underlying disease/immunosuppressive disorder, and degree of neutropenia, the response rates were very consistent from group to group. Treatment with Abelcet was well tolerated and mean serum creatinine levels actually declined during therapy, particularly in patients with pre-existing renal dysfunction.

  18. Topical antifungal-corticosteroid combination therapy for the treatment of superficial mycoses: conclusions of an expert panel meeting.

    PubMed

    Schaller, Martin; Friedrich, Markus; Papini, Manuela; Pujol, Ramon M; Veraldi, Stefano

    2016-06-01

    Superficial fungal infections affect 20-25% of people worldwide and can cause considerable morbidity, particularly if an inflammatory component is present. As superficial fungal infections can be diverse, the treatment should be tailored to the individual needs of the patient and several factors should be taken into account when deciding on the most appropriate treatment option. These include the type, location and surface area of the infection, patient age, degree of inflammation and underlying comorbidities. Although several meta-analyses have shown that there are no significant differences between the numerous available topical antifungal agents with regard to mycological cure, agents differ in their specific intrinsic properties, which can affect their clinical use. The addition of a corticosteroid to an antifungal agent at the initiation of treatment can attenuate the inflammatory symptoms of the infection and is thought to increase patient compliance, reduce the risk of bacterial superinfection and enhance the efficacy of the antifungal agent. However, incorrect use of antifungal-corticosteroid therapy may be associated with treatment failure and adverse effects. This review summarises available treatment options for superficial fungal infections and provides general treatment recommendations based on the consensus outcomes of an Expert Panel meeting on the topical treatment of superficial mycoses.

  19. AIDS-related opportunistic mycoses seen in a tertiary care hospital in North India.

    PubMed

    Wadhwa, Anupriya; Kaur, Ravinder; Agarwal, Satish Kumar; Jain, Shyama; Bhalla, Preena

    2007-08-01

    Sixty symptomatic confirmed human immunodeficiency virus (HIV)-positive adult patients, of both sexes, suspected of having a fungal infection were taken as a study population, and the clinicomycological profile was correlated with the immunological status of the patients with particular reference to CD4 counts. Relevant samples were collected and subjected to direct microscopy, fungal culture and serology. CD4 counts were determined by flow cytometry. Patients belonged to the age group of 17-65 years, with a male : female ratio of 4.8 : 1. Heterosexuality was the commonest mode of transmission. Candidiasis was the most common diagnosis (41.7 %), followed by cryptococcosis (10.0 %), and pneumocystinosis and aspergillosis (8.3 % each). Two cases of histoplasmosis were also diagnosed. A low mean CD4 count of <200 cells microl(-1) was seen with most fungal infections. A total of 73 % of patients belonged to World Health Organization (WHO) stage 4, while 23.33 % belonged to stage 3. Thirty one patients (51.67 %) belonged to Centers for Disease Control and Prevention (CDC) stage C3. Various fungal infections correlated well with the mean CD4 counts. It was difficult to correlate statistically WHO and CDC staging because of the small sample size. However, it was possible to assess to a limited extent the possibility of using clinical diagnosis to predict the status of progression of HIV infection in a resource-poor outpatient setting.

  20. Management of mycetoma: major challenge in tropical mycoses with limited international recognition.

    PubMed

    Ahmed, Abdalla A O; van de Sande, Wendy W J; Fahal, Ahmed; Bakker-Woudenberg, Irma; Verbrugh, Henri; van Belkum, Alex

    2007-04-01

    The present review highlights an orphan infectious disease in alarming need of international recognition. While money is being invested to develop new broad-spectrum antimicrobial drugs to treat infection in general, improvement in the management of complicated infections such as mycetoma receives little support. Many case presentations describe single-center experience in the management of mycetoma. Unfortunately, randomized and blinded clinical studies into the efficacy of antimicrobial treatment are desperately lacking. Response to medical treatment is usually better in actinomycetoma than eumycetoma. Eumycetoma is difficult to treat using current therapies. Surgery in combination with azole treatment is the recommended regimen for small eumycetoma lesions in the extremities. Bone involvement complicates clinical management, leaving surgical amputation as the only treatment option. Although clinical management has not received major attention recently, laboratory technology has improved in areas of molecular diagnosis and epidemiology. Management of mycetoma and laboratory diagnosis of its etiological agents need to be improved and better implemented in endemic regions. Optimized therapeutic approaches and more detailed epidemiological data are urgently needed. It is vital to initiate multicenter collaborations on national and international levels to develop consensus clinical score sheets and state-of-the-art treatment regimens for mycetoma patients.

  1. [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.

  2. 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.

  3. Cutaneous and systemic mycoses from infection with Lecanicillium spp. in captive Guthega skinks (Liopholis guthega).

    PubMed

    Scheelings, T F; Dobson, E C; Hooper, C; Eden, P

    2015-07-01

    Guthega skinks have been listed as critically endangered and are considered particularly vulnerable to extinction because of their isolation and restricted distribution. There is no information on their captive husbandry, or the diseases that affect them. Cutaneous and systemic mycosis from infection with Lecanicillium spp. was diagnosed in a captive colony of Guthega skinks (Liopholis guthega). Infection resulted in the death of five lizards. Diagnosis of infection was confirmed using a combination of histopathology, fungal culture and DNA sequencing from all affected animals. An additional four similarly affected individuals were successfully treated with a combination of voriconazole (10 mg/kg PO once daily) and shallow baths of benzalkonium chloride and polyhexamethylene biguanide hydrochloride (F10) (1 : 250, 20 min once daily). This is the first report of Lecanicillium spp. infection in reptiles. © 2015 Australian Veterinary Association.

  4. Twin studies in auto-immune disease.

    PubMed

    Leslie, R D; Hawa, M

    1994-01-01

    Immune-mediated diseases affect up to 5% of the population and are a major cause of morbidity and mortality. These diseases can be organ specific, such as insulin-dependent diabetes (IDDM) and non-organ specific, such as Rheumatoid Arthritis (RA). Identical and non-identical twins have been used to establish whether these diseases are determined by genetic or environmental factors. The results of these studies have been collated in a new section of the Mendel Institute in Rome. Diseases included in these studies included IDDM, RA, Systemic Lupus Erythematosus (SLE), Multiple Sclerosis (MS) and Myasthenia. Striking differences in concordance rates between identical and non-identical twins in all these studies suggest that genetic factors are important in causing these diseases. All the diseases are known to be associated with HLA genes on chromosome 6 which may account for some or all of the genetic susceptibility. However, in the majority of pairs the affected twin has an unaffected co-twin. These observations suggest that non-genetically determined factors, probably environmental factors and not somatic mutations, are critical. The study of unaffected co-twins, who are at high disease-risk, has allowed the identification of changes which precede and predict the clinical disease. The immune-mediated destruction in many of these diseases is probably caused by T-lymphocytes. Twin studies have shown the importance of genetic factors in determining T-cell responses. Identical twins should, therefore, provide the perfect test bed to assess the role of T-cells in immune-mediated diseases.

  5. Rare systemic mycoses in cats: blastomycosis, histoplasmosis and coccidioidomycosis: ABCD guidelines on prevention and management.

    PubMed

    Lloret, Albert; Hartmann, Katrin; Pennisi, Maria Grazia; Ferrer, Lluis; Addie, Diane; Belák, Sándor; Boucraut-Baralon, Corine; Egberink, Herman; Frymus, Tadeusz; Gruffydd-Jones, Tim; Hosie, Margaret J; Lutz, Hans; Marsilio, Fulvio; Möstl, Karin; Radford, Alan D; Thiry, Etienne; Truyen, Uwe; Horzinek, Marian C

    2013-07-01

    Rare fungal infections, including those hitherto not reported in Europe, may occur sporadically in non-endemic areas, or imported cases may be seen. Blastomycosis is mainly seen in North America; no cases have been reported in Europe. Histoplasmosis, which is endemic in the eastern US, Central and South America, has been diagnosed in Japan and Europe. Coccidioidomycosis is endemic in the southwestern US, Central and South America; only one imported case has been reported in Europe. The primary mode of transmission is inhalation of conidia or spores from the environment. Most feline cases present with a combination of clinical signs (mainly respiratory, along with skin, eye, central nervous system and bone). Lymphadenopathy and systemic signs may be present. Diagnosis is based on fungal detection by cytology and/or histology. Commercial laboratories do not routinely perform fungal culture. Diagnosis of coccidioidomycosis, which is more difficult, may be supported by antibody detection. Treatment consists of prolonged systemic antifungal therapy, with itraconazole as the first-choice agent for histoplasmosis and blastomycosis. The prognosis is good if owner compliance is adequate and adverse drug effects do not occur. Cat owners travelling to endemic areas should be warned about these diseases. There is no zoonotic risk.

  6. Rabbit Models for Studying Human Infectious Diseases

    PubMed Central

    Peng, Xuwen; Knouse, John A; Hernon, Krista M

    2015-01-01

    Using an appropriate animal model is crucial for mimicking human disease conditions, and various facets including genetics, anatomy, and pathophysiology should be considered before selecting a model. Rabbits (Oryctolagus cuniculus) are well known for their wide use in production of antibodies, eye research, atherosclerosis and other cardiovascular diseases. However, a systematic description of the rabbit as primary experimental models for the study of various human infectious diseases is unavailable. This review focuses on the human infectious diseases for which rabbits are considered a classic or highly appropriate model, including AIDS (caused by HIV1), adult T-cell leukemia–lymphoma (human T-lymphotropic virus type 1), papilloma or carcinoma (human papillomavirus) , herpetic stromal keratitis (herpes simplex virus type 1), tuberculosis (Mycobacterium tuberculosis), and syphilis (Treponema pallidum). In addition, particular aspects of the husbandry and care of rabbits used in studies of human infectious diseases are described. PMID:26678367

  7. Effects of temperature and relative humidity on sporulation of Metarhizium anisopliae var. acridum in mycosed cadavers of Schistocerca gregaria.

    PubMed

    Arthurs, S; Thomas, M B

    2001-08-01

    The effects of relative humidity (RH) and temperature on the sporulation of Metarhizium anisopliae var. acridum on mycosed cadavers of desert locust, Schistocerca gregaria, were assessed in the laboratory. Quantitative assessments of conidial production over 10 days under constant conditions showed that sporulation was optimized at RH > 96% and at temperatures between 20 and 30 degrees C. Under both these conditions >10(9) conidia/cadaver were produced. At 25 degrees C, conidial yield was maximized under conditions in which cadavers remained in contact with damp substrate. Relatively little sporulation occurred at 15 degrees C (< 3 x 10(7) conidia/cadaver) and 40 degrees C (< 4 x 10(6) conidia/cadaver) and no sporulation occurred at 10 or 45 degrees C. Following incubation, conidial yield was closely related to the water content of locust cadavers. In separate tests, locust cadavers were incubated for 10 days under diurnally fluctuating temperature and RH that comprised favorable (25 degrees C/100% RH) alternating with unfavorable (40 degrees C/80% RH) conditions for sporulation. In this case, fewer conidia were produced compared with cadavers that were incubated under the favorable conditions for an equal period cumulatively but were not periodically exposed to unfavorable conditions. However, this reduced sporulation observed with the fluctuating condition was not observed when cadavers were similarly incubated under favorable/unfavorable conditions of temperature but were not periodically exposed to the low RH condition. This result implies that sporulation is a dynamic process, dependent not only on periodic exposure to favorable RH but also on the interrelation of this with low RH. Associated tests and the monitoring of changes in cadaver weights imply that the mechanism driving the reduced sporulation under fluctuating RH is the net water balance of cadavers, i.e. the cumulative ability of the fungus/cadaver to adsorb water necessary for sporulation at high

  8. [Mycoses frequency in three communities in the North mountain of the State of Puebla].

    PubMed

    Méndez-Tovar, Luis Javier; Lemini-López, Alicia; Hernández-Hernández, Francisca; Manzano-Gayosso, Patricia; Blancas-Espinosa, Roberto; López-Martínez, Rubén

    2003-01-01

    In order to know mycosis frequency in the North of the State of Puebla, Mexico, in habitants from the communities of Ayotoxco, Mazatepec and Zacatipan were studied. Previous medical study biological samples were submitted to direct examination, smear and culture. Histoplasmin and sporotrichin skin test were applied to 57 individual from Zacatipan. From 110 patients 146 mycological studies were performed. Eighty six cases (59%) of mycosis were detected: 43 finger or toenails onychomycosis, 25 tinea pedis, seven tinea capitis, four cases of tinea manum and, finally, five cases of seborrhoeic dermatitis and two of pitiriasis versicolor. We isolated: 18 streins of dermatophytes, mainly Trichophyton rubrum and T. mentagrophytes (11 and 5 strains respectively); 12 cultures of non-dermatophytes filamentous fungi; six cases of mycelia sterile; six yeast strains, most of them Candida spp but none C. albicans. From 57 patients to whom skin tests were applied, five of them (8.8%) were positive to both antigens; ten positive (17.6%) only to histoplasmin and eight (14%) to sporotrichin. This study showed that rural population from Puebla present a high frequency of superficial mycosis (61% of mycological studies). Considering the percentage of positive skin test we suppose that there are many not diagnosed sporotrichosis and histoplasmosis cases.

  9. Update on invasive mycoses by filamentous fungi in critically ill patients.

    PubMed

    Pemán, Javier; Luque, Pilar; Nieto, Mercedes; Pozo, Juan Carlos; Solé, Amparo; Zaragoza, Rafael

    2011-03-01

    The present article is an update of the literature on invasive fungal infections caused by filamentous fungi in critically ill patients. A multidisciplinary group of Spanish physicians with an interest in these infections organized a joint session and selected the most important papers produced lately in the field. Each article was analyzed and discussed by one of the members of the panel. Studies from the fields of causative microorganisms, epidemiology, and diagnosis are discussed; including the assessment of different strategies for the early identification and treatment of patients at risk of fungal infections by filamentous fungi in the intensive care unit setting. Copyright © 2011 Elsevier España S.L. All rights reserved.

  10. [Multifocal mycoses in women: prevalence, species characteristics, and some intraspecific features].

    PubMed

    Mamos, Aneta Renata; Kurnatowska, Alicja

    2004-01-01

    The aim of this study was to detect fungi in three ontocenoses of 947 women (aged 20-45). The prevalence of multifocal fungal infections in women varied from 62.2 +/- 2.99% to 81.0 +/- 3.92% in different ontocenoses. They assumed the following mean values: 38.4 +/- 1.77% for the vagina, 42.2 +/- 1.80% for the oral cavity, and 25.0 +/- 1.58% for the anus. The clinical manifestations of sexual organs inflammations were statistically significantly (p < 0.01) more frequent in women infected with fungi than in those without fungi in the vaginal ontocenosis. The highest convergence of the fungi presence with subjective and objective symptoms (assessed using the Yule Q index value) concerned: pruritus of the vulva or/and vaginal walls, burning sensation or painful urethra, as well as oedema of the external opening of the urethra, vulva or/and the vagina (Q from +0.808 to +0.970). However, there was no statistically significant convergence between occurrence of the fungi and vaginal discharge and painful hypogastrium. Based on more than 40 phenotypical features (morphological, biochemical) of the axenic strains originating from vaginal, oral, and anal ontocenoses, a total of 12 species of fungi were identified: Candida albicans, C. guilliermondii, C. krusei, C. tropicalis, C. kefyr, C. utilis, C. humicola, C. viswanathii, C. glabrata, C. parapsilosis, Rhodotorula mucilaginosa, and Geotrichum candidum. For intraspecific features, depending on the profile of the compounds used for auxanogram, 9 codes were read for Candida albicans and only one code for each of other species was detected. In API ZYM test based on assessment of 19 hydrolase activities the enzymograms of species included from 6 to 11 enzymes.

  11. 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.

  12. 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.

  13. Using Xenopus to study genetic kidney diseases.

    PubMed

    Lienkamp, Soeren S

    2016-03-01

    Modern sequencing technology is revolutionizing our knowledge of inherited kidney disease. However, the molecular role of genes affected by the rapidly rising number of identified mutations is lagging behind. Xenopus is a highly useful, but underutilized model organism with unique properties excellently suited to decipher the molecular mechanisms of kidney development and disease. The embryonic kidney (pronephros) can be manipulated on only one side of the animal and its formation observed directly through the translucent skin. The moderate evolutionary distance between Xenopus and humans is a huge advantage for studying basic principles of kidney development, but still allows us to analyze the function of disease related genes. Optogenetic manipulations and genome editing by CRISPR/Cas are exciting additions to the toolbox for disease modelling and will facilitate the use of Xenopus in translational research. Therefore, the future of Xenopus in kidney research is bright.

  14. Invasive mycoses: diagnostic challenges.

    PubMed

    Ostrosky-Zeichner, Luis

    2012-01-01

    Despite the availability of newer antifungal drugs, outcomes for patients with invasive fungal infections (IFIs) continue to be poor, in large part due to delayed diagnosis and initiation of appropriate antifungal therapy. Standard histopathologic diagnostic techniques are often untenable in at-risk patients, and culture-based diagnostics typically are too insensitive or nonspecific, or provide results after too long a delay for optimal IFI management. Newer surrogate markers of IFIs with improved sensitivity and specificity are needed to enable earlier diagnosis and, ideally, to provide prognostic information and/or permit therapeutic monitoring. Surrogate assays should also be accessible and easy to implement in the hospital. Several nonculture-based assays of newer surrogates are making their way into the medical setting or are currently under investigation. These new or up-and-coming surrogates include antigens/antibodies (mannan and antimannan antibodies) or fungal metabolites (d-arabinitol) for detection of invasive candidiasis, the Aspergillus cell wall component galactomannan used to detect invasive aspergillosis, or the fungal cell wall component and panfungal marker β-glucan. In addition, progress continues with use of polymerase chain reaction- or other nucleic acid- or molecular-based assays for diagnosis of either specific or generic IFIs, although the various methods must be better standardized before any of these approaches can be more fully implemented into the medical setting. Investigators are also beginning to explore the possibility of combining newer surrogate markers with each other or with more standard diagnostic approaches to improve sensitivity, specificity, and capacity for earlier diagnosis, at a time when fungal burden is still relatively low and more responsive to antifungal therapy.

  15. 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.

  16. 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

  17. 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

  18. Genomics and disease resistance studies in livestock☆

    PubMed Central

    Bishop, Stephen C; Woolliams, John A

    2014-01-01

    This paper considers the application of genetic and genomic techniques to disease resistance, the interpretation of data arising from such studies and the utilisation of the research outcomes to breed animals for enhanced resistance. Resistance and tolerance are defined and contrasted, factors affecting the analysis and interpretation of field data presented, and appropriate experimental designs discussed. These general principles are then applied to two detailed case studies, infectious pancreatic necrosis in Atlantic salmon and bovine tuberculosis in dairy cattle, and the lessons learnt are considered in detail. It is concluded that the rate limiting step in disease genetic studies will generally be provision of adequate phenotypic data, and its interpretation, rather than the genomic resources. Lastly, the importance of cross-disciplinary dialogue between the animal health and animal genetics communities is stressed. PMID:26339300

  19. Social Media Methods for Studying Rare Diseases

    PubMed Central

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

    2014-01-01

    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. PMID:24733869

  20. [General epidemiology of invasive fungal disease].

    PubMed

    Pemán, Javier; Salavert, Miguel

    2012-02-01

    Invasive mycoses associated with high morbidity and mortality rates are increasing among immunocompromised or severely ill patients. Candida, Cryptococcus, Pneumocystis and Aspergillus are most prevalent agents with varying distribution as regards geography, patient condition and hospital units. The latest multicentre candidaemia survey conducted in Spain, showed C. albicans as the most frequently isolated species followed by C. parapsilosis, C. glabrata, C. tropicalis and C. krusei in contrast with other European or American studies where C. glabrata was second in rank. Aspergillus spp. is the leading agent causing invasive mycoses among filamentous fungi followed by Fusarium spp., Scedosporium spp. and zygomycetes. Aspergillus fumigatus is the most common agent in invasive aspergillosis (and azole-resistant isolates have been reported) but in the last few years Aspergillus flavus, Aspergillus nidulans and Aspergillus terreus have been isolated with increasing frequency variable with geographical factors, patients' underlying conditions or previous antifungal treatments. Copyright © 2011 Elsevier España, S.L. All rights reserved.

  1. A Portable Kit for Rapid Diagnosis of Infectious Diseases under Field Conditions

    DTIC Science & Technology

    1980-08-14

    A PORTABLE KIT FOR RAPID~ DIAGNOSIS OF INFECTIOUS DISEASES UNDER FIELD CONDITIONS W. R. SANBORN REPORT NO. 80-22 ELECT o JUL 198 ~SA NAV) AL HEALTH ...DIAGNOSIS of INFECTIOUS DISEASES under FIELD CONDITIONS I / Warren R. Sanborn Head, Microbiology Branch Biological Sciences Division Naval Health ...formation. Blood and stool examinations for parasites require a microscope, I as do examinations for certain superficial mycoses . The McArthur microscope

  2. PET and SPECT studies in Parkinson's disease.

    PubMed

    Brooks, D J

    1997-04-01

    Positron emission tomography (PET) and single photon emission tomography (SPECT) provide sensitive means for quantifying the loss of nigrostriatal dopaminergic fibres in Parkinson's disease and for detecting the presence of dopaminergic dysfunction in asymptomatic at-risk relatives and patients with isolated tremor. Functional imaging can also be used to follow the rate of disease progression objectively, determine the efficacy of putative neuroprotective agents, and monitor the viability of transplants of fetal tissue. Additionally, in vivo pharmacological changes associated with development of treatment complications (fluctuations, dyskinesias) can be studied. Loss of dopaminergic projections produces profound changes in resting and activated brain metabolism. PET and SPECT activation studies have suggested that the akinesia of Parkinson's disease is associated with failure to activate the supplementary motor and dorsal pre-frontal areas. Activation of these cortical areas is restored towards normal by the use of dopaminergic medication, striatal transplantation with fetal mesencephalic tissue, and pallidotomy. The aim of this chapter is to review the insight which functional imaging has given us into the pathophysiology of parkinsonism.

  3. Spatial distribution of disease: three case studies.

    PubMed

    Selvin, S; Shaw, G; Schulman, J; Merrill, D W

    1987-09-01

    Maps transformed so as to have constant density of residential population were used to analyze the spatial distribution of disease in three specific areas. Each area had received recent attention because of suspected environmental pollution. The area adjacent to the Rocky Flats Facility (CO) was examined to identify any association between possible plutonium releases and increases in lung cancer or leukemia incidence. The industrial area of northern Contra Costa County (CA) was studied to explore a relationship between petrochemical industrial emissions and histologic-specific lung cancers. Finally, a suspected increase in the risk of congenital cardiac defects possibly related to pollution of the Santa Clara County (CA) water supply was investigated. No evidence of elevated risk of disease was found to be associated with either the Rocky Flats Facility or the polluted water of Santa Clara County. An increase in lung cancer, found by other investigators in earlier years, was shown to persist in association with industrial emissions in Contra Costa County.

  4. Spatial distribution of disease: three case studies

    SciTech Connect

    Selvin, S.; Shaw, G.; Schulman, J.; Merrill, D.W.

    1987-09-01

    Maps transformed so as to have constant density of residential population were used to analyze the spatial distribution of disease in three specific areas. Each area had received recent attention because of suspected environmental pollution. The area adjacent to the Rocky Flats Facility (CO) was examined to identify any association between possible plutonium releases and increases in lung cancer or leukemia incidence. The industrial area of northern Contra Costa County (CA) was studied to explore a relationship between petrochemical industrial emissions and histologic-specific lung cancers. Finally, a suspected increase in the risk of congenital cardiac defects possibly related to pollution of the Santa Clara County (CA) water supply was investigated. No evidence of elevated risk of disease was found to be associated with either the Rocky Flats Facility or the polluted water of Santa Clara County. An increase in lung cancer, found by other investigators in earlier years, was shown to persist in association with industrial emissions in Contra Costa County.

  5. A disease management case study in infectious disease.

    PubMed

    Wert, S M

    1996-01-01

    One of the earliest attempts at risk sharing between a managed-care organization and a pharmaceutical company is the infectious disease management program developed since late 1993 by Intergroup of Arizona and Eli Lilly and Company (Indianapolis, Indiana) in conjunction with the Center for Pharmaceutical Economics at The University of Arizona (Tucson, Arizona) and other entities. In the first phase of the program, protocols were built around eight infectious disease states, and it was recognized that second-line antibiotics were often prescribed when more economical first-line antibiotics would be equally effective. The second phase of the program emphasized developing treatment algorithms focused on patient outcomes, using merged medical and pharmacy claims databases to determine the effects of the antibiotic changes. To implement the program successfully, some significant shifts in corporate, medical, and patient mind-sets had to be addressed. A primary goal was to encourage a movement from a rebate, volume-driven, cost structure to a shared-risk, appropriate-use, reimbursement method in which both managed-care and the pharmaceutical company incentives could mesh as far as possible. Over the long term, it is hoped that this project will lay the groundwork for other disease management programs for high-impact, frequently occurring diseases.

  6. [Estimated numbers of visceral mycoses in cases of leukemia and MDS in Japan : analysis of data from the Annual of Pathological Autopsy Cases and the vital statistics published by Ministry of health, labour and welfare in Japan].

    PubMed

    Togano, Tomiteru; Shibuya, Kazutoshi; Kume, Hikaru

    2012-01-01

    Our analysis reported here, is the first one in the world to make a nationwide-level estimate on numbers of visceral mycoses in case of leukemia and myelodysplastic syndrome (MDS)in Japan. The data on visceral mycoses in cases reported in the" Annual of the Pathological Autopsy Cases in Japan" published by the Japanese society of pathology in 2002 and 2006, and the data in the vital statics in Japan published by Ministry of health, labour and welfare were analyzed epidemiologically. The estimated numbers of visceral mycoses were 2,250 out of the estimated total death 8,976 in 2001, and 2290 out of 9,805 in 2005, respectively, in cases of leukemia and MDS in Japan. Furthermore, the estimated severe cases that we thought direct cause of death were 1,454 in 2001, and 1,464 in 2005, respectively. In the severe cases, the most causative agents were Aspergillus. The estimated numbers of Candida and Zygomycetes were interestingly almost same in the severe cases, but the lethal rate in Zygomycetes was about 60-80 % , almost twice as that in Candida. We think it is imperative to continuously survey and watch these rates towards the future.

  7. [Mondor's disease: study of two topographic localizations].

    PubMed

    Ortega Calvo, M; Villadiego Sánchez, J M

    2003-06-01

    Superficial thoracic wall and dorsal vein of the penis phlebitis are uncommon diseases. Both are known as Mondor's disease. Two cases have been diagnosed in a short period of time in a Southern. Spain primary care clinics.

  8. 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.

  9. 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)

  10. 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)

  11. On methods for studying stochastic disease dynamics

    PubMed Central

    Keeling, M.J; Ross, J.V

    2007-01-01

    Models that deal with the individual level of populations have shown the importance of stochasticity in ecology, epidemiology and evolution. An increasingly common approach to studying these models is through stochastic (event-driven) simulation. One striking disadvantage of this approach is the need for a large number of replicates to determine the range of expected behaviour. Here, for a class of stochastic models called Markov processes, we present results that overcome this difficulty and provide valuable insights, but which have been largely ignored by applied researchers. For these models, the so-called Kolmogorov forward equation (also called the ensemble or master equation) allows one to simultaneously consider the probability of each possible state occurring. Irrespective of the complexities and nonlinearities of population dynamics, this equation is linear and has a natural matrix formulation that provides many analytical insights into the behaviour of stochastic populations and allows rapid evaluation of process dynamics. Here, using epidemiological models as a template, these ensemble equations are explored and results are compared with traditional stochastic simulations. In addition, we describe further advantages of the matrix formulation of dynamics, providing simple exact methods for evaluating expected eradication (extinction) times of diseases, for comparing expected total costs of possible control programmes and for estimation of disease parameters. PMID:17638650

  12. On methods for studying stochastic disease dynamics.

    PubMed

    Keeling, M J; Ross, J V

    2008-02-06

    Models that deal with the individual level of populations have shown the importance of stochasticity in ecology, epidemiology and evolution. An increasingly common approach to studying these models is through stochastic (event-driven) simulation. One striking disadvantage of this approach is the need for a large number of replicates to determine the range of expected behaviour. Here, for a class of stochastic models called Markov processes, we present results that overcome this difficulty and provide valuable insights, but which have been largely ignored by applied researchers. For these models, the so-called Kolmogorov forward equation (also called the ensemble or master equation) allows one to simultaneously consider the probability of each possible state occurring. Irrespective of the complexities and nonlinearities of population dynamics, this equation is linear and has a natural matrix formulation that provides many analytical insights into the behaviour of stochastic populations and allows rapid evaluation of process dynamics. Here, using epidemiological models as a template, these ensemble equations are explored and results are compared with traditional stochastic simulations. In addition, we describe further advantages of the matrix formulation of dynamics, providing simple exact methods for evaluating expected eradication (extinction) times of diseases, for comparing expected total costs of possible control programmes and for estimation of disease parameters.

  13. 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

  14. British motor neuron disease twin study.

    PubMed Central

    Graham, A J; Macdonald, A M; Hawkes, C H

    1997-01-01

    OBJECTIVES: To investigate the cause of sporadic motor neuron disease (MND) by twin study, so allowing (1) estimation of the genetic contribution, and (2) collection of matched pairs for a case-control study of possible environmental factors. METHODS: 10872 death certificates bearing the diagnosis MND were collected from 1979 to 1989 inclusive. Inspection of individual birth entries allowed identification of potential twins. The status of each co-twin was determined and contact made through the National Health Service Central Register (NHS-CR) and their general practitioner (GP). The diagnosis of MND was verified via the co-twin and relatives, and medical records where available. Zygosity was assessed using a recognised questionnaire. Details concerning environmental exposures and health were gathered by interview of cotwin and relatives using a semistructured questionnaire. Heritability (h2) of MND was estimated, and the environmental information was analysed by conditional logistic regression modelling. RESULTS: Seventy seven probands were identified, of whom 26 were monozygotic and 51 dizygotic. Four monozygotic probands were concordant, but two probands came from a family known to have familial MND. The estimated heritability was between 0.38 and 0.85. Most environmental risk factors were not significant. Regular vehicle maintenance (odds ratio (OR) = 7.0; 95% confidence interval (95% CI) 1.3-89.9) and occupational paint usage (OR = 3.75; 95% CI 1.0-17.1), however, occurred significantly more often in the affected cases. CONCLUSIONS: This "death discordant" method for twin collection has proved to be viable, and has allowed the ascertainment of a large population sample in a rare disease. The genetic role in sporadic MND is substantial, and higher than expected. Exposure to industrial chemicals, particularly constituents of petrochemicals and paints, may contribute to the aetiology of MND. PMID:9219739

  15. 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.

  16. A Twin Study of Perthes Disease.

    PubMed

    Metcalfe, David; Van Dijck, Stephanie; Parsons, Nicolas; Christensen, Kaare; Perry, Daniel C

    2016-03-01

    Legg-Calvé-Perthes disease (LCPD) is an idiopathic avascular necrosis of the femoral head. Its etiology is poorly understood, although previous studies have implicated low birth weight and possible genetic determinants. The aim of this study was to identify potential birth weight and genetic associations with LCPD. We extracted all twin pairs from the Danish Twin Registry (DTR) in which at least 1 individual had LCPD. The DTR captures every twin pair born alive in Denmark, and those with LCPD were identified by using health record linkage. Probanwise concordance was calculated to describe the likelihood that any given individual had LCPD if their co-twin was also diagnosed. There were 81 twin pairs: 10 monozygotic, 51 dizygotic, and 20 unclassified (unknown zygosity [UZ]). There was no association between birth weight and being the affected co-twin. Four pairs (2 dizygotic and 2 UZ) were concordant for LCPD, which is greater than would be expected assuming no familial aggregation. There were no concordant monozygotic twin pairs. The overall probandwise concordance was 0.09 (95% confidence interval [CI]: 0.01-0.18): 0.00 for the monozygotic, 0.08 (95% CI: 0.00-0.18) for the dizygotic, and 0.18 (95% CI: 0.00-0.40) for the UZ twin pairs. This study found evidence of familial clustering in LCPD but did not show a genetic component. The absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of monozygotic twin pairs. Copyright © 2016 by the American Academy of Pediatrics.

  17. A cross-sectional survey to study the relationship of periodontal disease with cardiovascular disease, respiratory disease, and diabetes mellitus.

    PubMed

    Oberoi, Sukhvinder Singh; Harish, Yashoda; Hiremath, Shivalingaswamy; Puranik, Manjunath

    2016-01-01

    Periodontal deterioration has been reported to be associated with systemic diseases such as cardiovascular disease (CVD), diabetes mellitus, respiratory disease, liver cirrhosis, bacterial pneumonia, nutritional deficiencies, and adverse pregnancy outcomes. The present study assessed the periodontal disease among patients with systemic conditions such as diabetes, CVD, and respiratory disease. The study population consisted of 220 patients each of CVD, respiratory disease, and diabetes mellitus, making a total of 660 patients in the systemic disease group. A control group of 340 subjects were also included in the study for comparison purpose. The periodontal status of the patients with these confirmed medical conditions was assessed using the community periodontal index of treatment needs (CPITNs) index. The prevalence of CPITN code 4 was found to be greater among the patients with respiratory disease whereas the mean number of sextants with score 4 was found to be greater among the patients with diabetes mellitus and CVD. The treatment need 0 was found to be more among the controls (1.18%) whereas the treatment need 1, 2, and 3 were more among the patients with respiratory disease (100%, 97.73%, and 54.8%), diabetes mellitus (100%, 100% and 46.4%), and CVD (100%, 97.73%, and 38.1%), in comparison to the controls (6.18%). From the findings of the present study, it can be concluded that diabetes mellitus, CVD, and respiratory disease are associated with a higher severity of periodontal disease.

  18. A cross-sectional survey to study the relationship of periodontal disease with cardiovascular disease, respiratory disease, and diabetes mellitus

    PubMed Central

    Oberoi, Sukhvinder Singh; Harish, Yashoda; Hiremath, Shivalingaswamy; Puranik, Manjunath

    2016-01-01

    Background: Periodontal deterioration has been reported to be associated with systemic diseases such as cardiovascular disease (CVD), diabetes mellitus, respiratory disease, liver cirrhosis, bacterial pneumonia, nutritional deficiencies, and adverse pregnancy outcomes. Aim: The present study assessed the periodontal disease among patients with systemic conditions such as diabetes, CVD, and respiratory disease. Materials and Methods: The study population consisted of 220 patients each of CVD, respiratory disease, and diabetes mellitus, making a total of 660 patients in the systemic disease group. A control group of 340 subjects were also included in the study for comparison purpose. The periodontal status of the patients with these confirmed medical conditions was assessed using the community periodontal index of treatment needs (CPITNs) index. Results: The prevalence of CPITN code 4 was found to be greater among the patients with respiratory disease whereas the mean number of sextants with score 4 was found to be greater among the patients with diabetes mellitus and CVD. The treatment need 0 was found to be more among the controls (1.18%) whereas the treatment need 1, 2, and 3 were more among the patients with respiratory disease (100%, 97.73%, and 54.8%), diabetes mellitus (100%, 100% and 46.4%), and CVD (100%, 97.73%, and 38.1%), in comparison to the controls (6.18%). Conclusion: From the findings of the present study, it can be concluded that diabetes mellitus, CVD, and respiratory disease are associated with a higher severity of periodontal disease. PMID:28298829

  19. Epidemiologic Studies of Exercise and Cardiovascular Disease

    ERIC Educational Resources Information Center

    Montoye, Henry J.

    1977-01-01

    A physically more active life, while not being related to atherosclerosis, could enable some individuals to live longer with atherosclerosis before dying from or showing symptoms of coronary heart disease. (MJB)

  20. Epidemiologic Studies of Exercise and Cardiovascular Disease

    ERIC Educational Resources Information Center

    Montoye, Henry J.

    1977-01-01

    A physically more active life, while not being related to atherosclerosis, could enable some individuals to live longer with atherosclerosis before dying from or showing symptoms of coronary heart disease. (MJB)

  1. Patterns of skin disease in a sample of the federal prison population: a retrospective chart review

    PubMed Central

    Gavigan, Geneviève; McEvoy, Alana; Walker, James

    2016-01-01

    Background: Dermatology in vulnerable populations is under-researched. Our objective was to analyze the most commonly referred skin diseases affecting the Correctional Service Canada inmates in Ontario. Methods: An observational, cross-sectional, retrospective chart review of inmate patients seen from 2008 until 2013 was performed. Two groups of patients were included in the analysis: those assessed in-person, and those evaluated by e-consult. Results: In the in-person patient group, the 3 most common diagnoses were acne, psoriasis and other superficial mycoses. For the e-consult group, the 3 most frequent diagnoses were acne, psoriasis and rosacea. There was a clear bias toward more inmates being seen in-person where the service was provided (Collins Bay Institution) than from other correctional institutions in Eastern Ontario. Interpretation: Most of the skin diseases that affected the incarcerated population studied were common afflictions, similar to those affecting the general population, which is in agreement with other studies. Future studies investigating skin diseases in male and female inmates across Canada would bestow more generalizable data. PMID:27398381

  2. Medullary cystic disease: a family study.

    PubMed

    Chen, H C; Chang, J M; Tsai, J H; Lai, Y H

    1998-03-01

    Medullary cystic disease of the kidney is characterized by progressive tubulointerstitial disease with medullary cyst formation and secondary glomerular sclerosis. We treated a patient with chronic renal failure and investigated the family history of renal disease. The patient, an 18-year-old woman, was admitted due to poor appetite and fatigue for several months. Findings on physical examination were normal except for a pale conjunctiva. Urinalysis revealed only mild proteinuria with clear sediment. The hemogram showed normocytic normochromic anemia with hemoglobin 86 g/L. The patient was azotemic and her creatinine clearance rate was 10.7 mL/min. Renal sonography showed contraction of both kidneys with a marked increase in cortical echogenicity. One small cyst was found in the medullary area. Computed tomography (CT) and magnetic resonance imaging revealed several medullary cysts. Percutaneous renal biopsy showed focal and periglomerular sclerosis, marked tubular atrophy, and interstitial fibrosis. Ten of her family members were examined for renal function, and by sonography and CT. Five had medullary cysts, and three of the five showed abnormal renal function. Medullary cystic disease should be considered in the differential diagnosis of patients with renal disease and a positive family history.

  3. Celiac disease markers in patients with liver diseases: a single center large scale screening study.

    PubMed

    Drastich, Pavel; Honsová, Eva; Lodererová, Alena; Jarešová, Marcela; Pekáriková, Aneta; Hoffmanová, Iva; Tučková, Ludmila; Tlaskalová-Hogenová, Helena; Spičák, Julius; Sánchez, Daniel

    2012-11-21

    To study the coincidence of celiac disease, we tested its serological markers in patients with various liver diseases. Large-scale screening of serum antibodies against tissue transglutaminase (tTG), and deamidated gliadin using enzyme-linked immunosorbent assay and serum antibodies against endomysium using immunohistochemistry, in patients with various liver diseases (n = 962) and patients who underwent liver transplantation (OLTx, n = 523) was performed. The expression of tTG in liver tissue samples of patients simultaneously suffering from celiac disease and from various liver diseases using immunohistochemistry was carried out. The final diagnosis of celiac disease was confirmed by histological analysis of small-intestinal biopsy. We found that 29 of 962 patients (3%) with liver diseases and 5 of 523 patients (0.8%) who underwent OLTx were seropositive for IgA and IgG anti-tTG antibodies. However, celiac disease was biopsy-diagnosed in 16 patients: 4 with autoimmune hepatitis type I, 3 with Wilson's disease, 3 with celiac hepatitis, 2 with primary sclerosing cholangitis, 1 with primary biliary cirrhosis, 1 with Budd-Chiari syndrome, 1 with toxic hepatitis, and 1 with non-alcoholic steatohepatitis. Unexpectedly, the highest prevalence of celiac disease was found in patients with Wilson's disease (9.7%), with which it is only rarely associated. On the other hand, no OLTx patients were diagnosed with celiac disease in our study. A pilot study of the expression of tTG in liver tissue using immunohistochemistry documented the overexpression of this molecule in endothelial cells and periportal hepatocytes of patients simultaneously suffering from celiac disease and toxic hepatitis, primary sclerosing cholangitis or autoimmune hepatitis type I. We suggest that screening for celiac disease may be beneficial not only in patients with associated liver diseases, but also in patients with Wilson's disease.

  4. Farber's disease: a fine structural study.

    PubMed

    Abenoza, P; Sibley, R K

    1987-01-01

    A 1-week-old baby boy presented with hepatosplenomegaly, coarse facial features, and cloudy corneas. A metabolic storage disease was considered and he underwent cutaneous and liver biopsy. By light microscopy the skin was normal. Kupffer cells were enlarged and had foamy cytoplasm. Ultrastructural examination of skin and liver demonstrated features compatible with Farber's disease: curvilinear and "banana" bodies, zebra-like structures, and concentric lamellar bodies. A deficiency of lysosomal acid ceramidase was subsequently demonstrated in cultured fibroblasts and in liver tissue corroborating the ultrastructural findings.

  5. The Disabling Effect of Diseases: A Study on Trends in Diseases, Activity Limitations, and Their Interrelationships

    PubMed Central

    Hoeymans, Nancy; Wong, Albert; Deeg, Dorly J. H.; Nusselder, Wilma J.; de Klerk, Mirjam M. Y.; van Boxtel, Martin P. J.; Picavet, H. Susan J.

    2012-01-01

    Objectives. Data from the Netherlands indicate a recent increase in prevalence of chronic diseases and a stable prevalence of disability, suggesting that diseases have become less disabling. We studied the association between chronic diseases and activity limitations in the Netherlands from 1990 to 2008. Methods. Five surveys among noninstitutionalized persons aged 55 to 84 years (n = 54 847) obtained self-reported data on chronic diseases (diabetes, heart disease, peripheral arterial disease, stroke, lung disease, joint disease, back problems, and cancer) and activity limitations (Organisation for Economic Co-operation and Development [OECD] long-term disability questionnaire or 36-item Short Form Health Survey [SF-36]). Results. Prevalence rates of chronic diseases increased over time, whereas prevalence rates of activity limitations were stable (OECD) or slightly decreased (SF-36). Associations between chronic diseases and activity limitations were also stable (OECD) or slightly decreased (SF-36). Surveys varied widely with regard to disease and limitation prevalence rates and the associations between them. Conclusions. The hypothesis that diseases became less disabling from 1990 to 2008 was only supported by results based on activity limitation data as assessed with the SF-36. Further research on how diseases and disability are associated over time is needed. PMID:22095363

  6. Metabolomics in the study of kidney diseases.

    PubMed

    Weiss, Robert H; Kim, Kyoungmi

    2011-10-25

    Metabolomics--the nontargeted measurement of all metabolites produced by the body--is beginning to show promise in both biomarker discovery and, in the form of pharmacometabolomics, in aiding the choice of therapy for patients with specific diseases. In its two basic forms (pattern recognition and metabolite identification), this developing field has been used to discover potential biomarkers in several renal diseases, including acute kidney injury (attributable to a variety of causes), autosomal dominant polycystic kidney disease and kidney cancer. NMR and gas chromatography or liquid chromatography, together with mass spectrometry, are generally used to separate and identify metabolites. Many hurdles need to be overcome in this field, such as achieving consistency in collection of biofluid samples, controlling for batch effects during the analysis and applying the most appropriate statistical analysis to extract the maximum amount of biological information from the data obtained. Pathway and network analyses have both been applied to metabolomic analysis, which vastly extends its clinical relevance and effects. In addition, pharmacometabolomics analyses, in which a metabolomic signature can be associated with a given therapeutic effect, are beginning to appear in the literature, which will lead to personalized therapies. Thus, metabolomics holds promise for early diagnosis, increased choice of therapy and the identification of new metabolic pathways that could potentially be targeted in kidney disease.

  7. Study of the dermatophytes in dogs and the risk of human infection.

    PubMed

    Kozak, M; Bilek, J; Beladicova, V; Beladicova, K; Baranova, Z; Bugarsky, A

    2003-01-01

    The infiltrative growth of fungi that multiplies in the tissues (dermatophytes, candida, agents of visceral mycoses) is the generally known proof of "active" functioning of these organisms. The relative importance of fungi as inducers of human and animal diseases grows constantly. The study was carried out on dogs that showed skin changes. The frequency of examinations was determined on the basis of anamneses. Skin scrapings and affected fragile or dull hair and skin swabs were subject to Laboratory diagnostic examinations based on cultivation and microscopical examination. Our evaluations were focused on the type of parasite--ecothrix, endothrix, neoendothrix, and the size of arthrospores. The results of our study are presented as the incidence of dermatophytes and other micromycetes in 100 samples of skin scrapings and swabs from 100 dogs of both sexes, different breeds and age categories that had exhibited skin problems. We isolated 12 species. Malassezia pachydermatis was the most frequently detected species and was isolated from 31 cases. Trichophyton mentagrophytes was isolated from 2 samples, species Microsporum canis was isolated only from one case, Candida albicans was isolated from 3 samples. The agent Candida krusei was isolated from 5 samples, Candida pulcherrima a relatively rare candidal species, was isolated from skin of an 8-year old Dalmatian bitch, Candida sp. in 5 cases. Trichosporon cutaneum was isolated from a 3-year old Laika etc. This study confirms the need of constant research in this area. This indicates that the incidence of mycoses in dogs and other pets is of importance in the exposure of people to the risk of acquiring mycotic infections. (Tab. 1, Fig. 5, Ref. 57).

  8. Genetic studies of Unverricht-Luendborg disease

    SciTech Connect

    Lafreniere, R.G.; Dube, M.P.; Rouleau, G.A.

    1994-09-01

    Unverricht-Luendborg disease (ULD) is a progressive myoclonus epilepsy with an age of onset between 6 and 13 years, myoclonic jerks that progressively worsen, and mental deterioration. ULD shows an autosomal recessive mode of inheritance. The ULD gene has been genetically linked to 21q22.3, and more recently estimated to lie within 0.3 cM of the markers PFKL, D21S25, and D21S154, based on linkage disequilibrium. We have previously identified eight families affected with ULD and shown linkage to 21q22.3. In our efforts to identify the metabolic basis of the disease, we have identified several other families with ULD and are testing them for linkage to 21q22.3 We are also constructing a cosmid and YAC contig of the candidate EPM1 region in 21q22.3 and are in the process of identifying candidate genes therefrom.

  9. Periodontal disease as a risk factor of recurrence of venous thromboembolic disease: a prospective study.

    PubMed

    Sánchez-Siles, Mariano; Rosa-Salazar, Vladimir; Salazar-Sánchez, Noemi; Camacho-Alonso, Fabio

    2015-01-01

    In recent years, periodontal disease has been related to a large number of systemic disorders. To study the possible relationship between periodontal disease and high levels of D-dimer in a group of patients with venous thromboembolic disease. A study was made of 142 patients diagnosed with unprovoked venous thromboembolic disease. All patients underwent oral examination consecutively and randomly. Finally, two groups were obtained: (a) patients with periodontal disease (n = 71); and (b) patients without periodontal disease (n = 71). All patients were subjected to periodontal study, with evaluation of the number of teeth, bleeding index, gingival index, simplified oral hygiene index, community periodontal index of treatment needs, clinical attachment level, probe depth, number of pockets ≥4 mm, number of pockets ≥6 mm. The D-dimer values were evaluated in both groups. D-dimer values were higher in the study group than the control group, with statistically significant differences (p = 0.010). A relationship is observed between the presence of periodontal disease and high D-dimer levels. Patients with venous thromboembolic disease and periodontal disease could have more risk of a new thromboembolism episode.

  10. A study on digital diseases of cattle in Morocco.

    PubMed

    Mahin, L; Chadli, M; Addi, A

    1986-01-01

    Digital diseases of cattle, as defined by the "International Council on Digital Diseases of the Ruminants" were studied on 32 farms with various management systems in Morocco. This study involved 953 cattle without lameness for claw examination and 89 lame cattle for detailed clinical examination and semiological trimming of the eight claws. Claw deformities, interdigital dermatitis and ungular erosion, chronic diffuse aseptic pododermatitis, circumscribed pododermatitis and deep digital diseases were described regarding their prevalence and clinical characteristics, including their distribution on fore and hind limbs, and on antero-medial, antero-lateral, postero-medial and postero-lateral claws. Interrelationships between different digital diseases and relationships between some digital diseases and environmental factors were searched by correlation studies. The results are compared with the characteristics of the same digital diseases in other countries.

  11. Diseases: the more common the less studied.

    PubMed

    de Melker, R A

    1995-03-01

    Due to large gaps in our knowledge of so-called 'common' diseases a scientific basis for their treatment is lacking. Patient care on a scientific basis and research are complementary. Present-day bureaucracy and policy on subsidies hamper the development of an adequate research policy. Trainees in general practice should be taught to think methodically and scientifically during their 3-year vocational training. A similar scientific attitude is essential within the GP networks with which departments of general practice co-operate and should be the point of departure in every GP's daily observations. The NHG (Dutch College of General Practitioners) should see to it that research shall become one of the basic tasks in general practice.

  12. [Isotope nephrographic studies in benign gynecologic diseases].

    PubMed

    Lamm, D

    1977-01-01

    1014 patients with benigne gynaecological diseases (functional incontinence of urine with and without displacement, myoma of uterus, ovarian tumors, chronic salpingoophoritis) were examined by means of isotope nephrogram before gynaecological treatment was begun. A group of 156 patients was parallely examined by means of chromocystoscopy and intravenous urography. For judgement of the ING-curves we applicated an extra parameter--the drain value "A"--, through which it was possible to differenciate between emptying disturbances and functional urinary transport disorders. To obtain this value it is necessary to change the position of the patients during examination. Under these conditions approximately 95% of ING-findings conformed with those vaised by intravenous urography. Giving weight to these conditions, we recommend the application of ING in gynaecology as a screening method. Criteria for optimal usage of this method are mentioned.

  13. 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.

  14. Infections as risk factor for autoimmune diseases - A nationwide study.

    PubMed

    Nielsen, Philip Rising; Kragstrup, Tue Wenzel; Deleuran, Bent Winding; Benros, Michael Eriksen

    2016-11-01

    Viruses, bacteria and other infectious pathogens are the major postulated environmental triggers of autoimmunity. In the present nation-wide study we describe the association between infections and 29 autoimmune diseases. We used the Danish Civil Registration System to identify 4.5 million persons born between 1945 and 2000. Information on infections and autoimmune diseases was obtained from the Danish Hospital Register. The cohort was followed from 1977 to 2012. Incidence rate ratios for developing an autoimmune disease were estimated using poisson regression. We found an association between hospital admission for an infection and 29 autoimmune diseases. This study shows that infections are risk factors for a broad spectrum of autoimmune diseases in a dose-response and temporal manner, in agreement with the hypothesis that infections are an environmental risk factor contributing to the etiology of autoimmune diseases together with genetic factors.

  15. [The agent Latrodectus and canine paecilomycotic eclampsia as a laboratory model in the survey of treatment for mycoses and parasitic diseases].

    PubMed

    Gasparian, E R; Streliaeva, A V; Chebyshev, N V; Sagieva, A T; Polzikov, V V; Lazareva, N B; Kurilov, D V; Zuev, S S; Shcheglova, T A; Sadykov, V M

    2012-01-01

    The extragent used to prepare a Latrodectus mactans hydrocarbon extract is a multicomponent system composed of alkanes, alkenes, and arenes. More than 100 compounds were identified in the hydrocarbon extract (petroleum). The petroleum matrix of Latrodectus mactans was first obtained to manufacture homeopathic remedies. The authors could prepare the first Russian homeopathic medicine from Latrodectus mactans, which proved to be effective in treating canine eclampsia. Canine experiments provide a rationale for the authors' choice as the only homeopathic remedy among thousand known drugs to treat female eclampsia. It is Latrodectus mactans that is in the list of homeopathic medicines permitted for use in accordance with Order No. 335 (Supplement 2) of the Ministry of Health and Medical Industry of Russia, issued on November 29, 1995. It is manufactured from Latrodectus mactans living in the USA.

  16. Prader-Willi Disease: A Case Study.

    ERIC Educational Resources Information Center

    Forbus, William R., III

    A case study focuses on the characteristics and physical management of a 15-year-old with Prader-Willi Syndrome, a birth defect associated with hypotonia, insatiable appetite, hypogonadism, central nervous system dysfunction, and abnormal growth and development . A literature review addresses studies dealing with behavior modification of obesity…

  17. Prader-Willi Disease: A Case Study.

    ERIC Educational Resources Information Center

    Forbus, William R., III

    A case study focuses on the characteristics and physical management of a 15-year-old with Prader-Willi Syndrome, a birth defect associated with hypotonia, insatiable appetite, hypogonadism, central nervous system dysfunction, and abnormal growth and development . A literature review addresses studies dealing with behavior modification of obesity…

  18. Established patterns of animal study design undermine translation of disease-modifying therapies for Parkinson's disease.

    PubMed

    Zeiss, Caroline J; Allore, Heather G; Beck, Amanda P

    2017-01-01

    Translation of disease-modifying therapies in neurodegenerative disease has been disappointing. Parkinson's disease (PD) was used to compare patterns of preclinical study design for symptomatic and potentially disease-modifying interventions. We examined the relationship of model, intervention type and timing, outcomes and outcome measures in 543 animal and human studies (1973-2015) across a contemporary cohort of animal and human interventional studies (n = 445), animal studies for approved interventions (n = 28), animal and human studies for those that failed to translate (n = 70). Detailed study design data were collected for 216 studies in non-human primate (NHP) and rodent toxin-induced models. Species-specific patterns of study design prevailed regardless of whether interventions were symptomatic or potentially disease-modifying. In humans and NHPs, interventions were typically given to both sexes well after the PD phenotype was established, and clinical outcome measures were collected at single (symptomatic) or multiple (disease-modifying) time-points. In rodents, interventions often preceded induction of the model, acute toxic protocols were common, usually given to young males, clinical outcome measures were used less commonly, and outcomes were less commonly assessed at multiple time points. These patterns were more prevalent in mice than rats. In contrast, study design factors such as randomization and blinding did not differ appreciably across symptomatic and disease-modifying intervention categories. The translational gap for potentially disease-modifying interventions in PD in part results from study designs, particularly in mice, that fail to model the progressive nature and relatively late intervention characteristic of PD, or that anchor mechanistic and neuropathologic data to longitudinal clinical outcomes. Even if measures to improve reproducibility are broadly adopted, perpetuation of these norms will continue to impede effective translation.

  19. 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.

  20. Should we perform systematic electrophysiological study in Steinert's disease?

    PubMed

    Fayssoil, Abdallah

    2008-10-18

    Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome 19q13.3. Because of rhythmic complications, the place for systematic electrophysiological study (EPS) has to be discussed.

  1. Should we perform systematic electrophysiological study in Steinert's disease?

    PubMed Central

    Fayssoil, Abdallah

    2008-01-01

    Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome 19q13.3. Because of rhythmic complications, the place for systematic electrophysiological study (EPS) has to be discussed. PMID:18928563

  2. 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)

  3. 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.

  4. Induced pluripotent stem cells in the study of neurological diseases

    PubMed Central

    2011-01-01

    Five years after their initial derivation from mouse somatic cells, induced pluripotent stem (iPS) cells are an important tool for the study of neurological diseases. By offering an unlimited source of patient-specific disease-relevant neuronal and glial cells, iPS cell-based disease models hold enormous promise for identification of disease mechanisms, discovery of molecular targets and development of phenotypic screens for drug discovery. The present review focuses on the recent advancements in modeling neurological disorders, including the demonstration of disease-specific phenotypes in iPS cell-derived neurons generated from patients with spinal muscular atrophy, familial dysautonomia, Rett syndrome, schizophrenia and Parkinson disease. The ability of this approach to detect treatment effects from known therapeutic compounds has also been demonstrated, providing proof of principle for the use of iPS cell-derived cells in drug discovery. PMID:21936964

  5. [Superficial mycoses--analysis of mycological examinations from Mycology Laboratory in Krakow in years 2010-2014].

    PubMed

    Andres, Michał; Jaworek, Andrzej; Stec-Polak, Magdalena; Radzimowska, Joanna; Wojas-Pelc, Anna

    2015-01-01

    Superficial fungal infections are a major epidemiological issue with increasing prevalence. Mycological examination is crucial for proper diagnosis. The aim of this study was to determine the epidemiological and etiological factors of superficial fungal infections in Malopolska and the incidence of superficial fungal infections in relation to sex and age. We analyzed 4608 results of mycological examinations taken from patients in 2010-2014 in Mycology Laboratory in Krakow. Materials were collected from affected areas: nails, skin of feet and hands, the smooth skin and hairy skin. The material was examined directly and cultured. Among 4608 collected materials culture was positive in 1765 cases. Dermatophytes were the most common isolates (865; 49%), followed by yeasts (702; 39.8%) and non-dermatophytic molds (161; 9.1%). There were 37 (2.1%) co-infections. Trichophyton rubrum (745; 86%) and Trichophyton mentagrophytes (90; 10%) were the most prevalent species among dermatophytes. Dermatophyte infections occurred significantly more frequent in males, whereas yeast and non-dermatophytic molds in females. The type, and change in etiological factors of fungal infections in patients is a reflection of social behavior modification and changes in the ecosystem of the region and may be an indication for the sanitary-epidemiological actions.

  6. Disability Weights Measurement for 228 Causes of Disease in the Korean Burden of Disease Study 2012

    PubMed Central

    2016-01-01

    Disability weight for each disease plays a key role in combining years lived with disability and years of life lost in disability adjusted life year. For the Korean Burden of Disease 2012 study, we have conducted a re-estimation of disability weights for causes of disease by adapting the methodology of a recent Global Burden of Disease study. Our study was conducted through a self-administered web-based survey using a paired comparison (PC) as the main valuation method. A total of 496 physicians and medical college students who were attending in third or fourth grade of a regular course conducted the survey. We applied a probit regression on the PC data and computed the predicted probabilities of each cause of disease from the coefficient estimates of the probit regression. We used 'being dead (1)' and 'full health (0)' as anchor points to rescale the predicted probability of each cause of disease on a scale of 0 to 1. By this method, disability weights for a total of 228 causes of disease were estimated. There was a fairly high correlation between the disability weights of overlapping causes of disease from this study and a previous South Korean study despite the differences in valuation methods and time periods. In conclusion, we have shown that disability weights can be estimated based on a PC by including 'full health' and 'being dead' as anchor points without resorting to a person trade-off. Through developments in the methodology of disability weights estimation from this study, disability weights can be easily estimated and continuously revised. PMID:27775250

  7. Disability Weights Measurement for 228 Causes of Disease in the Korean Burden of Disease Study 2012.

    PubMed

    Ock, Minsu; Lee, Jin Yong; Oh, In Hwan; Park, Hyesook; Yoon, Seok Jun; Jo, Min Woo

    2016-11-01

    Disability weight for each disease plays a key role in combining years lived with disability and years of life lost in disability adjusted life year. For the Korean Burden of Disease 2012 study, we have conducted a re-estimation of disability weights for causes of disease by adapting the methodology of a recent Global Burden of Disease study. Our study was conducted through a self-administered web-based survey using a paired comparison (PC) as the main valuation method. A total of 496 physicians and medical college students who were attending in third or fourth grade of a regular course conducted the survey. We applied a probit regression on the PC data and computed the predicted probabilities of each cause of disease from the coefficient estimates of the probit regression. We used 'being dead (1)' and 'full health (0)' as anchor points to rescale the predicted probability of each cause of disease on a scale of 0 to 1. By this method, disability weights for a total of 228 causes of disease were estimated. There was a fairly high correlation between the disability weights of overlapping causes of disease from this study and a previous South Korean study despite the differences in valuation methods and time periods. In conclusion, we have shown that disability weights can be estimated based on a PC by including 'full health' and 'being dead' as anchor points without resorting to a person trade-off. Through developments in the methodology of disability weights estimation from this study, disability weights can be easily estimated and continuously revised.

  8. Study of familial Parkinson's disease in Russia, Uzbekistan, and Zambia

    PubMed Central

    Atadzhanov, M; Zumla, A; Mwaba, P

    2005-01-01

    Objective: The aims of this study were (A) to determine inheritance patterns of familial Parkinson's disease in three different geographical areas (Russia, Uzbekistan, and Zambia); (B) compare clinical characteristics of familial with sporadic Parkinson's disease; and (C) assess whether there were ethnic differences in clinical manifestations of the disease. Methods: Fifty two index cases of familial Parkinson's disease in Moscow, 55 in Tashkent, and 27 in Lusaka were selected on the basis of the typical clinical features of Parkinson's disease with a familial history. The sex ratio, transmission patterns, and segregation ratio were determined by pedigree analysis. Results: Familial Parkinson's disease was found in all three countries (30 families in Russia, 12 in Uzbekistan, and seven in Zambia), and appeared more common in Russia. Both autosomal dominant and autosomal recessive patterns of inheritance were seen, but autosomal dominance was more common in all countries. Conclusions: In all three countries men have a higher risk of developing Parkinson's disease than women and there are ethnic differences in clinical manifestations of the disease. The onset of both familial and sporadic Parkinson's disease in Zambian patients occurs at a younger age and is associated with slow progression and a benign course, and generally responds well to levodopa treatment. PMID:15701745

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

    PubMed

    Arends, Maarten; 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

    2016-12-15

    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.

  10. Parkinson's Disease and Melanoma May Occur Together, Study Finds

    MedlinePlus

    ... gov/news/fullstory_167078.html Parkinson's Disease and Melanoma May Occur Together, Study Finds Doctors should counsel ... are about four times more likely to develop melanoma skin cancer, and conversely, people with melanoma have ...

  11. Ten-Year Study of a Wilson's Disease Dysarthric.

    ERIC Educational Resources Information Center

    Day, Linda Susan; Parnell, Martha M.

    1987-01-01

    The 10-year longitudinal case study describes the history, speech therapy program, and treatment results for an adult male with Wilson's disease, a genetically based metabolic progressive neurological disorder which includes severe speech problems. (DB)

  12. [Clinicopathological study of chronic kidney diseases (CKD)].

    PubMed

    Yoshida, Haruyoshi

    2012-02-01

    I started my life as a medical doctor at Amagasaki Prefectural Hospital after graduation from the Faculty of Medicine, Kyoto University in September 1971. I joined the newly established section of nephrology in the second year. The chief was Dr. Kazuro Kanatsu who had just moved from Kyoto University at the time of the campus disturbances. Dr. Kanatsu not only oriented me in clinical nephrology, but also guided me in medical research. I used to go to the laboratory of Dr. Tadao Tamura, Kyoto University once a week to learn renal biopsy study. In 1977, I entered the Department of Pathology, Postgraduate School of my university to learn immunopathology from Prof. Yoshihiro Hamashima. In the second year, I was willingly involved in the research group on murine SLE organized by the newly invited associate professor, Dr. Toshikazu Shirai, who taught young researchers such as myself how to consider, practice and enjoy experiments. In 1982, I went abroad to Prof. Peter Miescher, University of Geneva, who was a friend of Prof. Hamashima and organized immunopathology research groups. In the laboratory of Prof. Shozo Izui, I performed an isoelectric focused study on anti-DNA antibodies in lupus-prone mice and identified the pathogenetic role of the clonal expansion of autoantibodies. After 3 years, I came back to the 3rd Division of Internal Medicine of my university. Meanwhile, Prof. Chuichi Kawai guided me to go back to Prof. Hamashima's Pathology Department, where I helped young doctors publish a series of papers, including studies on SLE and a murine model of IgA glomerulonephritis. Later, I was obliged to leave the Pathology Department, and moved to Himeji National Hospital in 1992 as a clinical nephrologist by the invitation of the Director, Dr. Tamura. At that time I was very much encouraged by Prof. Shirai at Juntendo University, who gave me a letter with an old saying "Jinkan itarutokoro seizan ari". After 3 years, I moved to Kitano Hospital, Osaka, where I learned

  13. [Clotrimazol therapy of skin mycoses].

    PubMed

    Szarmach, H; Poniecka, H; Stepka, L

    1977-03-01

    Clinical evaluation of a 1% clotrimazole cream and solution on 236 in and out patients with different clinical manifestations of mycotic infections was done. Clotrimazole, both cream and solution, is an effective and well tolerated agent in the treatment of infections due to dermatophytes and yeasts. Best results were recorded with patients suffering from pityriasis versicolor and erythrasma, and interdigital erosion.

  14. Functional Analysis of the Human Genome:. Study of Genetic Disease

    NASA Astrophysics Data System (ADS)

    Tsui, Lap-Chee

    2003-04-01

    I will divide my remarks into 3 parts. First, I will give a brief summary of the Human Genome Project. Second, I will describe our work on human chromosome 7 to illustrate how we could contribute to the Project and disease research. Third, I would like to bring across the argument that study of genetic disease is an integral component of the Human Genome Project. In particular, I will use cystic fibrosis as an example to elaborate why I consider disease study is a part of functional genomics.

  15. ELECTRON MICROSCOPIC STUDIES OF RENAL DISEASE

    PubMed Central

    Latta, Harrison

    1960-01-01

    The nephrotic syndrome, glomerulonephritis, disseminated lupus erythematosus and the Fanconi syndrome show characteristic changes with electron microscopy. Experimental studies of animals were carried out to determine the significance of such changes by observing reactions that occur under carefully controlled conditions. A lesion with collagen deposition that was found in the centrolobular region of glomeruli sheds new light on the function of this region. This evidence must be considered in developing an understanding of how the production of urine is controlled. Fluid-filled compartments and various bodies associated with the ultrastructure of tubule cells can be produced under conditions which suggest that these structures play a role in tubular resorption. ImagesFigure 1, 2.Figure 3.Figure 4, 5.Figure 6, 7.Figure 8, 9.Figure 10.Figure 11, 12.Figure 13, 14.Figure 15, 16.Figure 17. PMID:13759386

  16. 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.

  17. Pulmonary Fungal Diseases in Immunocompetent Hosts: A Single-Center Retrospective Analysis of 35 Subjects.

    PubMed

    Yan, XiaoPei; Zong, Feng; Kong, Hui; Wang, YanLi; Zhao, XinYun; Liu, WenRui; Wang, ZaiLiang; Xie, WeiPing

    2016-08-01

    Pulmonary fungal disease is an emerging issue in immunocompetent patients, for whom the characteristics are only partially understood. We conducted a single-center retrospective study of histologically verified pulmonary fungal disease in Eastern China from 2006 to 2014 to understand the demographics, clinical manifestations, therapeutic approaches, and factors associated with prognosis in this population. All cases were diagnosed according to the 2008 European Organization for the Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infection Diseases Mycoses Study Group definition criteria. A total of 112 cases of pulmonary fungal diseases were enrolled (35 proven, 16 probable, 61 possible), and we analyzed the 35 patients with histologically proven pulmonary fungal diseases in this study. The main fungal species identified were Aspergillus (51.4 %), Cryptococcus (22.9 %), and Mucor (2.4 %). Treatment consisted of antifungal therapeutic agents (54.3 %), surgery and postsurgical agents (25.7 %), or surgery alone (14.3 %). The overall crude mortality rate was 14.3 %, and the mortality due to pulmonary fungal infections was 2.9 %. Significant predictors of mortality by univariate analysis were hypoalbuminemia (P = 0.005), cancer (P = 0.008), and positive culture (P = 0.044). Additionally, hypoalbuminemia was the only risk factor for mortality by multivariate analysis (RR = 7.56, 95 % CI 1.38-41.46). Pulmonary fungal disease in immunocompetent patients, with Aspergillus as the most common identified species, had a prognosis that was influenced by the level of serum albumin.

  18. A candidate gene study of canine joint diseases.

    PubMed

    Clements, Dylan N; Short, Andrea D; Barnes, Annette; Kennedy, Lorna J; Ferguson, John F; Butterworth, Steven J; Fitzpatrick, Noel; Pead, Matthew; Bennett, David; Innes, John F; Carter, Stuart D; Ollier, William E R

    2010-01-01

    Canine osteoarthritis (OA) commonly occurs in association with articular diseases, such as hip dysplasia (HD), elbow dysplasia (ED), or cranial cruciate ligament rupture (CCLR). We hypothesized that a common genomic risk for the development of canine joint disease and canine OA would be identified by evaluating the allele frequencies of candidate gene single nucleotide polymorphisms (SNPs) in dogs with OA associated with different articular diseases when compared with a general population of breed-matched dogs. DNA was extracted from blood samples obtained from Labrador Retrievers and Golden Retrievers surgically treated for ED, HD, and CCLR and confirmed to have radiographic evidence of OA. One hundred and thirteen SNPs in 20 candidate genes were genotyped. No significant associations were identified for SNPs or haplotypes in the candidate genes for the diseases evaluated. The candidate gene approach for the study of genetic association is unlikely to be successful for complex canine diseases such as OA without prior trait mapping evaluation.

  19. [Study and prospects for clinical diseases treated with scraping therapy].

    PubMed

    Wang, Ying-ying; Yang, Jin-sheng

    2009-02-01

    In order to explore characteristics of clinical diseases treated by scraping therapy, summarize laws of clinical application of scraping therapy, and prospect for research direction of scraping therapy in future, collect 437 articles about scraping therapy between 1994-2007 and analyze and summarize the treated diseases and methods of scraping therapy. Results indicate that scraping therapy has been widely applied to commonly encountered diseases and frequently encountered diseases in departments of internal medicine, surgery, gynecology and pediatrics, etc. with more obvious therapeutic effects. Clinically, it can combine with acupuncture and moxibustion, cupping, massage, blood-letting puncture and other methods. In future, the studies on standardization of manipulation and standards for assessment of therapeutic effect, suitable diseases and the mechanisms of scraping therapy, and development of tools and media, etc. of scraping therapy should be strengthened.

  20. Disability-Adjusted Life Years for Communicable Disease in the Korean Burden of Disease Study 2012.

    PubMed

    Lee, Ye Rin; Moon, Kanghee; Kim, Young Ae; Park, So Youn; Oh, Chang Mo; Lee, Kyung Suk; Oh, In Hwan

    2016-11-01

    Globally, the incidence of communicable diseases has decreased compared to non-communicable diseases. However, chronic communicable diseases such as HIV/AIDS and tuberculosis persist worldwide. Furthermore, emerging new infections such as H1N1 influenza pose a new threat to public health. However, most studies have focused on non-communicable diseases because of their increasing incidence, with fewer studies investigating communicable diseases. Therefore, we estimated the burden of communicable diseases in Korea using national representative 2012 data. To estimate the disability-adjusted life years (DALY), we used cause of death data from the Statistics Korea to estimate the years of life lost (YLL), applied the Korean garbage code algorithm, and used national claims data from the National Health Insurance Service (NHIS) to estimate years lived with disability (YLD). In 2012, the total DALYs of communicable disease were 445 per 100,000, with 129 YLLs per 100,000 and 316 YLDs per 100,000. The total DALYs in men were 468 per 100,000, greater than the 422 per 100,000 DALYs seen in women. The DALYs of lower respiratory infections were the highest value among communicable diseases at 143/100,000 DALYs followed by tuberculosis and upper respiratory infections. The 40-49 years old age group had the largest number of total DALYs. In contrast, the over 80 years old age group had the largest number of total DALYs per 100,000 followed by the 70-79 and 0-9 years old age groups. These results enable the prioritization of interventions related to communicable diseases and can be used for evidence-based public health policies.

  1. Coeliac disease in primary care: case finding study

    PubMed Central

    Hin, Harold; Bird, Graham; Fisher, Peter; Mahy, Nick; Jewell, Derek

    1999-01-01

    Objectives To provide evidence of underdiagnosis of coeliac disease and to describe the main presenting symptoms of coeliac disease in primary care. Design Case finding in a primary care setting by testing for coeliac disease by using the endomysial antibody test. Setting Nine surgeries in and around a market town in central England, serving a population of 70 000. Participants First 1000 patients screened from October 1996 to October 1997. Outcome measures Determination of endomysial antibody titre of patients fulfilling the study criteria, followed by small intestine biopsy of those with positive results. Results The 30 patients (out of 1000 samples) with positive results on the endomysial antibody test all had histological confirmation on small intestine biopsy. The commonest mode of presentation (15/30) was anaemia of varying severity. Most patients (25/30) presented with non-gastrointestinal symptoms. Specificity of the endomysial antibody test was 30/30. Conclusions Underdiagnosis and misdiagnosis of coeliac disease are common in general practice and often result in protracted and unnecessary morbidity. Serological screening in primary care will uncover a large proportion of patients with this condition and should be made widely available and publicised. Coeliac disease should be considered in patients who have anaemia or are tired all the time, especially when there is a family history of the disease. Key messagesGeneral practitioners currently see many people with undiagnosed coeliac diseaseThe most likely presentation is a combination of microcytic anaemia, past or present, a family history of the disease, and feeling tired all the timeEstimations of endomysial antibody and IgA are reliable diagnostic toolsThe prevalence of coeliac disease in Britain is higher than the accepted figure of 1:1000 populationIncreased awareness of the extra intestinal manifestations of coeliac disease, coupled with a low threshold for serological testing, will uncover a

  2. 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.

  3. Coronary artery disease in patients with cerebrovascular disease: a prospective study

    SciTech Connect

    Rokey, R.; Rolak, L.A.; Harati, Y.; Kutka, N.; Verani, M.S.

    1984-07-01

    Coronary artery disease is the cause of death in most patients who have transient ischemic attacks or stroke. Evaluation for this condition is not routinely performed in such patients, and no prospective studies have been reported. We prospectively examined 50 consecutive patients with transient ischemic attacks or mild stroke to determine the prevalence and importance of coronary artery disease. All patients were examined by a cardiologist and underwent both exercise thallium-201 scintigraphy and exercise radionuclide ventriculography. Sixteen patients were suspected to have coronary artery disease on the basis of clinical evaluation. In 15 of these the was confirmed by the nuclear scans. The remaining 34 patients had no clinical evidence of heart disease, yet 14 had abnormal cardiac scans. Twenty of 22 patients with abnormal scans who underwent cardiac catheterization had significant coronary artery disease or a cardiomyopathy. The discovery of heart disease altered clinical management in 13 patients. Overall, 29 of 50 patients had significant coronary artery disease, compared with a 7% prevalence of the condition in other patients of similar age at the same institution.

  4. [Alzheimer's disease and geolocation: initial results of the Estima study].

    PubMed

    Rialle, Vincent; Ollivet, Catherine; Brissonneau, Christophe; Leard, Franck; Barth, Iwan; Extra, Jocelyne; Sablier, Juliette

    2012-01-01

    Geolocation devices for patients suffering from Alzheimer's disease constitute an improvement in their care. However, this system arouses debate. The Estima study offers a series of results and recommendations concerning the use of these devices. It consists of three complementary sections: a sociological study, an observational retrospective study and an ethical analysis.

  5. 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.

  6. Study of Hepatic Osteodystrophy in Patients with Chronic Liver Disease

    PubMed Central

    Karoli, Yogesh; Fatima, Jalees; Manhar, Mohammad

    2016-01-01

    Introduction Chronic Liver Disease (CLD) is a major cause of morbidity and mortality worldwide. It involves haemodynamic and metabolic complications. Hepatic Osteodystrophy is a metabolic bone disease that may occur in individuals with chronic liver disease. It can significantly affect morbidity and quality of life of these patients. Fractures are also associated with an excess mortality. It has been an under recognized and inadequately studied complication among Indian population. An early diagnosis is essential to correct reversible risk factors which predispose to bone mass loss. Aim To assess the prevalence of metabolic bone disease and identify the risk factors associated with hepatic osteodystrophy in patients with cirrhosis. Materials and Methods This was an observational, cross-sectional, hospital based study conducted at a medical college hospital. All patients more than 20-year-old, diagnosed with chronic liver disease/Cirrhosis were enrolled. They were subjected to haematological, biochemical investigations, evaluation of Vitamin D and other hormonal parameters. Bone Mineral Density (BMD) was estimated by Dual Energy X-ray Absorptiometry (DEXA). Results A total of 72 patients with mean age 50.04±11.24 years were included in the study. Amongst causes of chronic liver disease were alcoholic liver disease 22 (30.6%), CLD due to hepatitis B 24 (33.3%) and chronic hepatitis C 26 (36.1%). Twenty one (29.2%) patients had normal BMD while 51 (70.8%) had a low BMD. Out of these 51 patients, 36 (70.6%) were diagnosed of osteopenia and 15 (29.4%) others were found to have osteoporosis. Vitamin D levels and severity of liver disease had correlation with low BMD. Conclusion Low BMD is highly prevalent in patients with chronic liver disease of variable aetiologies. We advocate more randomised and prospective studies to be conducted on homogeneous groups with chronic liver disease in its various stages. In view of numerous therapeutic options available both for liver

  7. Multidisciplinary studies of disease burden in the Diseases of the Most Impoverished Programme.

    PubMed

    Deen, Jacqueline L; von Seidlein, Lorenz; Clemens, John D

    2004-09-01

    With limited healthcare resources, rational prioritization of healthcare interventions requires knowledge and analysis of disease burden. In the absence of actual disease-burden data from less-developed countries, various types of morbidity and mortality estimates have been made. Besides having questionable reliability, these estimates do not capture the full burden of a disease since they provide only the number of cases and deaths. The modelling methods that include disability are more comprehensive but are difficult to understand, and their reliability is affected by baseline approximations. To provide policy-makers with information needed for rational decision-making, the Diseases of the Most Impoverished (DOMI) Programme of the International Vaccine Institute has used a multidisciplinary approach to describe the burden of disease due to typhoid fever, shigellosis, and cholera. Recognizing the relative advantages and disadvantages of various methodologies, the programme employs passive clinic-based surveillance in defined communities to provide prospective data. The prospective data are complemented with retrospectively-collected information from existing sources, frequently less accurate and complete but readily available for the whole population over extended periods. To create a more complete picture, economic and qualitative studies specific to each disease are incorporated in these prospective studies. The goal is to achieve a more complete and realistic picture by combining the results of these various methodologies, acknowledging the strengths and limitations of each. These projects also build in-country capacity in terms of treatment, diagnosis, epidemiology, and data management.

  8. Etiology and Pathophysiology of Frontotemporal Dementia, Parkinson Disease and Alzheimer Disease: Lessons from Genetic Studies

    PubMed Central

    Wider, Christian; Wszolek, Zbigniew K.

    2008-01-01

    Genetic studies have led to major discoveries in the pathogenesis of various neurodegenerative diseases. Ubiquitin-positive familial frontotemporal dementia was recently found to be caused by mutations in the progranulin gene (PGRN), and the major constituent of the inclusions, TDP-43, was subsequently identified. The tau gene (MAPT) causes frontotemporal dementia with parkinsonism linked to chromosome 17. In Parkinson disease, LRRK2 mutations have emerged as a major cause of both familial and sporadic forms, adding to the previously known genes SNCA, PRKN, DJ1 and PINK1. Several genes have been implicated in Alzheimer disease, including the APP gene and the PSEN genes. Recently, variants in the sortilin-related receptor 1 gene, SORL1, were associated with Alzheimer disease. PMID:18322368

  9. Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease: lessons from genetic studies.

    PubMed

    Wider, Christian; Wszolek, Zbigniew K

    2008-01-01

    Genetic studies have led to major discoveries in the pathogenesis of various neurodegenerative diseases. Ubiquitin-positive familial frontotemporal dementia was recently found to be caused by mutations in the progranulin gene (PGRN), and the major constituent of the inclusions, TDP-43, was subsequently identified. The tau gene (MAPT) causes frontotemporal dementia with parkinsonism linked to chromosome 17. In Parkinson disease, LRRK2 mutations have emerged as a major cause of both familial and sporadic forms, adding to the previously known genes SNCA,PRKN,DJ1 and PINK1. Several genes have been implicated in Alzheimer disease, including the APP gene and the PSEN genes. Recently, variants in the sortilin-related receptor 1 gene, SORL1, were associated with Alzheimer disease. 2008 S. Karger AG, Basel

  10. Canine heartworm disease: a review and pilot study.

    PubMed

    Haddock, K C

    1987-01-01

    Canine heartworm disease is a mosquito vectored illness resulting from parasitization by the filariid worm Dirofilaria immitis. While presenting some danger to humans, the filariid has its greatest impact on the canine population. In recent years the disease has become established throughout much of the United States, perhaps as the result of diffusion from a suspected hearth in the southeastern coastal plain. While its distribution is known in general terms, much research remains to be done to assess the pattern of distribution as well as the impact of D. immitis on canine populations and their human owners for many locales. The present study provides a review of the literature on the parasite; on its distribution, particularly in the United States; and on the ecology of canine heartworm disease. A pilot study is presented which emphasizes the problems encountered in establishing a data base for observations on the disease at the local level.

  11. Fungal diseases of reptiles.

    PubMed

    Schumacher, Juergen

    2003-05-01

    Fungal infections affecting the integumentary system, the upper and lower respiratory system and the gastro-intestinal tract have been reported in many species of captive reptiles. Systemic mycoses are diagnosed rarely in reptiles, and in most cases, they are a postmortem finding. Commonly, immunocompromised reptiles, kept in suboptimal environmental conditions are affected. In many cases, mixed bacterial and fungal infections of opportunistic organisms may be present. A diagnosis of a primary fungal infection is based on proper selection and collection of diagnostic specimens such as biopsies of infected tissues. Treatment of fungal infections in reptiles includes administration of effective antifungal agents and correction of inappropriate environmental conditions such as poor hygiene, too high or too low temperature and humidity, inadequate diet, and stress from overcrowding. Few studies have investigated effective dosages and dosage intervals of antifungal agents in reptiles.

  12. Genome-Wide Association Studies and Liver Disease

    PubMed Central

    Speliotes, Elizabeth K.

    2016-01-01

    Sequencing of the human genome has opened up many opportunities to learn about our own genetic susceptibilities to disease. In this Foreword to this issue of Seminars in Liver Disease, I provide some required background to understanding genome-wide association analyses in general, including a list of terms (Table 1) often used in such studies. Five areas of particular significance are then reviewed in detail in the articles that follow. PMID:26676811

  13. 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.

  14. Molecular Simulation Studies of Proteins Involved in Parkinson's Disease

    NASA Astrophysics Data System (ADS)

    Carloni, Paolo

    2007-12-01

    This contribution describes two recent computational studies related to proteins involved in Parkinson's Disease (PD). The first focuses on the interplay between dopamine and α-synuclein (AS), which plays a central role in PD (unpublished results). The second deals with the protein DJ-1, whose mutations are present in patients suffering from familiar PD [1]. Computational methods are used to investigate the relationship between such mutations and the protein oligomeric state, which may be important for the progression of the disease.

  15. Study on Assessment of Renal Function in Chronic Liver Disease

    PubMed Central

    Das, Nupur; Paria, Baishakhi; Sarkar, Sujoy

    2015-01-01

    Introduction: Renal dysfunction is common in chronic liver disease. The cause of this renal dysfunction is either multi-organ involvement in acute conditions or secondary to advanced liver disease. Objectives: The study was undertaken to assess the renal function in chronic liver diseases and find out the association of alteration of renal function with gradation of liver disease. (assessed by child-pugh criteria) and to find out the association of alteration of renal function among the cases of chronic liver disease of different aetiology. Materials and Methods: This cross-sectional, observational study was undertaken in Department of General Medicine, Calcutta National Medical College & Hospital, Kolkata during March 2012 to July 2013 with 50 admitted patients of chronic liver disease after considering the exclusion criteria. The patients were interviewed with a pre-designed and pre-tested schedule, examined clinically, followed by some laboratory investigations relevant to diagnose the aetiology of chronic liver disease, and to assess the severity of liver and renal dysfunction. Data was analysed by standard statistical method. Results: Eighty six percent of the patients were male and the mean age of study population was 43.58 y, 68% patients suffered from alcoholic liver disease, followed by 14% patients had chronic Hepatitis-B, 10% patients developed acute kidney injury, 20% had hepato renal syndrome and 14% had IgA deposition. The distribution of serum urea and creatinine across the categories of Child Pugh classification tested by Mann-Whitney test and the distribution was statistically significant. Conclusion: The present study has found significant association between severity of liver dysfunction and certain parameters of renal dysfunction. PMID:25954647

  16. Longitudinal study of heart disease in a Jamaican rural population

    PubMed Central

    Miall, W. E.; Del Campo, E.; Fodor, J.; Rhode, J. R. Nava; Ruiz, L.; Standard, K. L.; Swan, A. V.

    1972-01-01

    A long-term epidemiological study of heart disease in a representative rural community in Jamaica was started in 1962-63 and the first follow-up survey was carried out in 1967-68. This report describes the prevalence of several cardiovascular characteristics at each survey, and their associations with other measurements. The nature of the electrocardiographic abnormalities and their relationship with symptoms of effort pain and prolonged chest pain suggests that much of the disease seen in this population is ultimately ischaemic in origin despite evidence that classical myocardial infarction and severe coronary atheroma are relatively infrequent. Nevertheless both the symptoms and the electrocardiographic abnormalities had features that were not completely typical of occlusive disease of extramural coronary arteries. These findings are discussed in terms of the four conditions—hypertension, conventional coronary heart disease, small artery disease, and cardiomyopathy—that are believed to account for most cases of heart disease in this community, and it is concluded that the overall pattern of disease cannot be explained by any single disorder of overriding importance. The evidence suggests that all may be important contributors. PMID:4538187

  17. Particulate matter and heart disease: Evidence from epidemiological studies

    SciTech Connect

    Peters, Annette . E-mail: peters@gsf.de

    2005-09-01

    The association between particulate matter and heart disease was noted in the mid-nineties of last century when the epidemiological evidence for an association between air pollution and hospital admissions due to cardiovascular disease accumulated and first hypotheses regarding the pathomechanism were formulated. Nowadays, epidemiological studies have demonstrated coherent associations between daily changes in concentrations of ambient particles and cardiovascular disease mortality, hospital admission, disease exacerbation in patients with cardiovascular disease and early physiological responses in healthy individuals consistent with a risk factor profile deterioration. In addition, evidence was found that annual average PM{sub 2.5} exposures are associated with increased risks for mortality caused by ischemic heart disease and dysrhythmia. Thereby, evidence is suggesting not only a short-term exacerbation of cardiovascular disease by ambient particle concentrations but also a potential role of particles in defining patients' vulnerability to acute coronary events. While this concept is consistent with the current understanding of the factors defining patients' vulnerability, the mechanisms and the time-scales on which the particle-induced vulnerability might operate are unknown.

  18. Animal analogues for the study of dental and oral diseases.

    PubMed

    Levy, B M

    1980-01-01

    The usual laboratory animals, such as rats and hamsters, may not fit the criteria for an analogue of human periodontal disease, although they may be useful in the study of dental caries. Rats, hamsters, mice, guinea pigs and rabbits have been the animals of choice in studies relating nutritional deficiencies and excesses to the dental and oral tissues. Gerbils, dogs, cats, horses, cows and fowl are useful in the study of mineralized tissues of teeth and bones. Recently, primate analogues have been developed for the study of periodontal diseaes and dental caries, the two most important dental diseases afflicting man. The use of a wide variety of laboratory animals in basic dental research makes it timely to review some of the guidelines for the selection of specific animals for particular diseases.

  19. 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.

  20. Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

    PubMed

    von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim

    2016-10-01

    Little is known about the experiences of women with Fabry disease. The aim of this study was to explore women's experiences of being heterozygous for Fabry disease. We used an explorative qualitative study design and selected ten Norwegian women who were known heterozygous for Fabry disease to participate. We conducted in-depth semi-structured interviews and analyzed the interviews using inductive thematic analysis. We found that learning about one's heterozygous status may be devastating for some. However, for most of the participants, heterozygous status, as well as doctors' acceptance of symptoms in women heterozygous for Fabry disease, provided an explanation and relief. Although many women did not consider themselves ill, they wished to be acknowledged as more than "just carriers." The participants were grateful for enzyme replacement therapy, although it had its burdens regarding time, planning, and absences from school or work. Women with Fabry disease felt that the lack of knowledge among healthcare professionals about Fabry disease was frustrating and worrisome. These findings suggest that healthcare professionals should acknowledge the different ways women react to their diagnosis, and be aware of the personal costs of receiving treatment.

  1. Wilson's disease studied with FDG and positron emission tomography

    SciTech Connect

    Hawkins, R.A.; Mazziotta, J.C.; Phelps, M.E.

    1987-11-01

    Four patients with Wilson's disease and eight normal controls were studied with 2-deoxy-2-(/sup 18/F)fluoro-D-glucose (FDG) and positron emission tomography (PET). The patients had diffusely reduced glucose metabolism in all brain regions evaluated compared with controls, with the exception of the thalamus. The ratio of the cerebral metabolic rate for glucose in the lenticular nuclei to hemispheres declined from 1.23 (+/- 0.14 SD) in controls to 1.03 (+/- 0.06) (p less than 0.025) in Wilson's disease patients. Compared with Huntington's disease, the PET FDG results in Wilson's disease indicate relatively less focal involvement of the caudate nucleus, more severe focal changes in the lenticular nuclei, and more significant global changes in glucose metabolism.

  2. Pharmacotherapy in Parkinson’s disease: case studies

    PubMed Central

    Mestre, Tiago; Ferreira, Joaquim J.

    2010-01-01

    Parkinson’s disease is a common neurodegenerative disorder with the particular feature of having various available treatments with proven efficacy. However, no treatment is curative. Recent trial results provided data for the discussion about the potential disease-modifying effect of new drugs as well as of other therapeutic strategies. The changing clinical phenotype following the progression of the disease multiplies the number of treatment targets and makes the application of recommendations from guidelines or other treatment algorithms to the individual patient a complex task. In the present manuscript, we discuss the treatment management of three case studies illustrating different stages of disease with distinct phenomenology. The proposed therapeutic alternatives are discussed based on the best data available; that is, treatment guidelines, clinical trial results or observational data. PMID:21179604

  3. 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…

  4. Cognitive Dysfunction Survey of the Japanese Patients with Moyamoya Disease (COSMO-JAPAN Study): Study Protocol

    PubMed Central

    TAKAGI, Yasushi; MIYAMOTO, Susumu

    2015-01-01

    Moyamoya disease is a cerebrovascular occlusive disease characterized by progressive stenosis or by occlusion at the terminal portion of the bilateral internal carotid arteries. The unusual vascular network (moyamoya vessels) at the base of the brain with this disease as collateral channels is developed in this disease. Social independence because of cognitive impairment has recently been recognized as an important unsolved social issue with adult moyamoya disease. The patients with cognitive impairment have difficulty in proving their status because the standard neuroradiological and neuropsychological methods to define cognitive impairment with moyamoya disease are not determined. These patients with cognitive impairment should be supported by social welfare as psychologically handicapped persons. Thus Cognitive Dysfunction Survey of the Japanese Patients with Moyamoya Disease (COSMO-JAPAN study) is planned. In this study, we want to establish a standard finding of the cognitive impairment in patients with moyamoya disease. PMID:25739435

  5. Cognitive Dysfunction Survey of the Japanese Patients with Moyamoya Disease (COSMO-JAPAN Study): study protocol.

    PubMed

    Takagi, Yasushi; Miyamoto, Susumu

    2015-01-01

    Moyamoya disease is a cerebrovascular occlusive disease characterized by progressive stenosis or by occlusion at the terminal portion of the bilateral internal carotid arteries. The unusual vascular network (moyamoya vessels) at the base of the brain with this disease as collateral channels is developed in this disease. Social independence because of cognitive impairment has recently been recognized as an important unsolved social issue with adult moyamoya disease. The patients with cognitive impairment have difficulty in proving their status because the standard neuroradiological and neuropsychological methods to define cognitive impairment with moyamoya disease are not determined. These patients with cognitive impairment should be supported by social welfare as psychologically handicapped persons. Thus Cognitive Dysfunction Survey of the Japanese Patients with Moyamoya Disease (COSMO-JAPAN study) is planned. In this study, we want to establish a standard finding of the cognitive impairment in patients with moyamoya disease.

  6. 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

  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. 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

  9. 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

  10. A comparative study of metronidazole and sulfasalazine for active Crohn's disease: the cooperative Crohn's disease study in Sweden. II. Result.

    PubMed

    Ursing, B; Alm, T; Bárány, F; Bergelin, I; Ganrot-Norlin, K; Hoevels, J; Huitfeldt, B; Järnerot, G; Krause, U; Krook, A; Lindström, B; Nordle, O; Rosén, A

    1982-09-01

    Seventy-eight patients with active Crohn's disease participated in a randomized, double-blind, cross-over trial. The study comprised two 4-mo period. The purpose was to test the efficacy of metronidazole in comparison with that of sulfasalazine. As the main evaluation criteria the Crohn's Disease Activity Index and plasma levels of orosomucoid were chosen. In the first period no difference in efficacy as measured by Crohn's Disease Activity Index was found between the treatment groups. The reduction of the plasma orosomucoid level was significantly more pronounced in the metronidazole group. The hemoglobin concentration increased more in this group than in the sulfasalazine group, possibly due to a toxic effect of sulfasalazine. The erythrocyte sedimentation rate decreased similarly with both drugs. In 15 patients who had active disease throughout the first period, Crohn's Disease Activity Index decreased significantly in the second period for those who switched to metronidazole, but not for those who switched to sulfasalazine. After crossover, no apparent further change in Crohn's Disease Activity Index occurred in either of the treatment groups among patients who had responded favorably in the first period. The plasma concentration of orosomucoid increased significantly among the patients in the sulfasalazine group but not in the metronidazole group. It is therefore concluded that metronidazole is slightly more effective than sulfasalazine in the treatment of crohn's disease. It is worthwhile switching the drug regimen from sulfasalazine, when it fails, to metronidazole, but not from metronidazole to sulfasalazine.

  11. Sjögren's syndrome: studying the disease in mice

    PubMed Central

    2011-01-01

    Sjögren's syndrome (SS), a systemic autoimmune disease, is characterized by inflammation of exocrine tissues accompanied by a significant loss of their secretory function. Clinical symptoms develop late and there are no diagnostic tests enabling early diagnosis of SS. Thus, particularly to study these covert stages, researchers turn to studying animal models where mice provide great freedom for genetic manipulation and testing the effect of experimental intervention. The present review summarizes current literature pertaining to both spontaneous and extrinsic-factor induced SS-like diseases in mouse models, discussing advantages and disadvantages related to the use of murine models in SS research. PMID:21672284

  12. Sjögren's syndrome: studying the disease in mice.

    PubMed

    Delaleu, Nicolas; Nguyen, Cuong Q; Peck, Ammon B; Jonsson, Roland

    2011-06-13

    Sjögren's syndrome (SS), a systemic autoimmune disease, is characterized by inflammation of exocrine tissues accompanied by a significant loss of their secretory function. Clinical symptoms develop late and there are no diagnostic tests enabling early diagnosis of SS. Thus, particularly to study these covert stages, researchers turn to studying animal models where mice provide great freedom for genetic manipulation and testing the effect of experimental intervention. The present review summarizes current literature pertaining to both spontaneous and extrinsic-factor induced SS-like diseases in mouse models, discussing advantages and disadvantages related to the use of murine models in SS research.

  13. Design of Depression in Alzheimer's Disease Study-2.

    PubMed

    Martin, Barbara K; Frangakis, Constantine E; Rosenberg, Paul B; Mintzer, Jacobo E; Katz, Ira R; Porsteinsson, Anton P; Schneider, Lon S; Rabins, Peter V; Munro, Cynthia A; Meinert, Curtis L; Niederehe, George; Lyketsos, Constantine G

    2006-11-01

    Research on the efficacy of antidepressant therapy for depressive symptoms in Alzheimer disease has been hampered by lack of systematic diagnosis, small sample sizes, and short-term follow up. To address these issues, the authors present the design of the Depression in Alzheimer's Disease Study-2 (DIADS-2), a randomized, placebo-controlled multicenter trial to evaluate the efficacy and safety of the selective serotonin reuptake inhibitor sertraline for the treatment of depression in people with Alzheimer disease. The authors present and discuss the following important aspects of the design: the inclusion of structured psychosocial therapy for the caregivers of all participants; the measurement not only of patient mood outcomes, but also of global and functional outcomes for patients and mood and burden outcomes for caregivers; the ongoing rating of multiple diagnostic criteria to allow nosologic study of depression in Alzheimer disease; the evaluation of both short-term efficacy and longer-term outcomes; the follow up of all patients regardless of whether they complete study treatment; and the unmasking of treatment assignment at the conclusion of each patient's treatment phase. The authors believe these design elements are important features to be included in trials of depression and other neuropsychiatric disturbances in Alzheimer disease.

  14. Clinical and experimental study of Castleman disease in children.

    PubMed

    Zhang, Jun; Li, ChangChun; Lv, LinYa; Yang, Chao; Kong, Xiang Ru; Zhu, Jin; Zhang, Yun; Wang, Shan

    2015-01-01

    Castleman disease (CD) is a rare lymphoproliferative disease that is often underdiagnosed or misdiagnosed, especially in children. For this reason, we describe the clinical manifestations, diagnosis and treatment of CD in 11 children. A retrospective study was performed to analyze the clinical features of 11 children with CD in a single institution from January 2001 to December 2012. All had computed tomography (CT) and lymph node resection for pathology diagnosis. The average age of patients was 9.67 ± 4.26 years (range 1.3-15.5 years) including eight males (72.73%) and three females (27.27%). All but two (18.18%) had multicentric Castleman disease (MCD). Human immunodeficiency virus (HIV) or human herpes virus 8 (HHV8) infected cells were not detected in all patients. All patients were misdiagnosed in outside hospitals without tissue examination. Only in one case, the preoperative CT scan suggested CD. After treatment, 10 out of 11 children with CD in our study were disease free in the follow-up period ranging from 12 to 136 months (average 65.1 ± 10.21 months). CD in children is rare, and is frequently misdiagnosed clinically. Our study shows that surgical resection is very effective in the treatment of unicentric Castleman disease (UCD). The rare UCD patient and all MCD patients treated with the modified NHLBFM-90 protocol had good prognosis. © 2014 Wiley Periodicals, Inc.

  15. Occupational risk for Crohn's disease: A two-center study.

    PubMed

    Liu, Song; Ding, Jie; Wang, Meng; Wang, Gefei; Wu, Xiuwen; Feng, Min; Song, Peng; Ren, Jianan; Guan, Wenxian

    2016-11-01

    Occupational factors have been suggested as possible elements in the etiology of Crohn's disease, although evidences have not been fully obtained. This study is to investigate possible associations between occupation and development of Crohn's disease. This prospective study was carried out in two major hospitals during January 2010 and December 2014. Demographic and clinical data were collected for the calculation of standard incidence ratios and 95% confidence intervals by occupation. A total of 401 patients with Crohn's disease were recruited into this study. Participants were distributed into 8 major occupational groups, among which "professionists" (17.7%), "service and sales" (18.7%) and "unclassified individuals" (mainly students) (20.2%) took up the most proportions. Increased standard incidence ratios were found in "service and sales" (2.526±0.135, 95% CI: 1.939-3.290), "professionists" (4.216±0.142, 95% CI: 3.194-5.565), and most significantly, in "administrative staffs" (5.476±0.170, 95% CI: 3.926-7.639). In contrast, decreased standard incidence ratios for Crohn's disease were observed in the category of "workers in agriculture, forestry, animal husbandry, fishery and water conservancy" (0.088±0.146, 95% CIs: 0.066-0.117). Occupational elements are implicated in the likelihood of development of Crohn's disease. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  16. "Gestaltomics": Systems Biology Schemes for the Study of Neuropsychiatric Diseases.

    PubMed

    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.

  17. Parabiosis for the study of age-related chronic disease

    PubMed Central

    Eggel, Alexander; Wyss-Coray, Tony

    2014-01-01

    Summary Modern medicine wields the power to treat large numbers of diseases and injuries most of us would have died from just a hundred years ago. In view of this tremendous achievement, it can seem as if progress has slowed, and we have been unable to impact the most devastating diseases of our time. Chronic diseases of age such as cardiovascular disease, diabetes, osteoarthritis, or Alzheimer’s disease turn out to be of a complexity that may require transformative ideas and paradigms to understand and treat them. Parabiosis, which mimics aspects of the naturally occurring shared blood supply in conjoined twins in humans and certain animals, may just have the power to be such a transformative experimental paradigm. Forgotten and now shunned in many countries, it has contributed to major breakthroughs in tumor biology, endocrinology, and transplantation research in the past century, and a set of new studies in the US and Britain report stunning advances in stem cell biology and tissue regeneration using parabiosis between young and old mice. We review here briefly the history of parabiosis and discuss its utility to study physiological and pathophysiological processes. We argue that parabiosis is a technique that should enjoy wider acceptance and application, and that policies should be revisited especially if one is to study complex age-related, chronic disorders. PMID:24496774

  18. A PubMed-Wide Associational Study of Infectious Diseases

    PubMed Central

    Sintchenko, Vitali; Anthony, Stephen; Phan, Xuan-Hieu; Lin, Frank; Coiera, Enrico W.

    2010-01-01

    Background Computational discovery is playing an ever-greater role in supporting the processes of knowledge synthesis. A significant proportion of the more than 18 million manuscripts indexed in the PubMed database describe infectious disease syndromes and various infectious agents. This study is the first attempt to integrate online repositories of text-based publications and microbial genome databases in order to explore the dynamics of relationships between pathogens and infectious diseases. Methodology/Principal Findings Herein we demonstrate how the knowledge space of infectious diseases can be computationally represented and quantified, and tracked over time. The knowledge space is explored by mapping of the infectious disease literature, looking at dynamics of literature deposition, zooming in from pathogen to genome level and searching for new associations. Syndromic signatures for different pathogens can be created to enable a new and clinically focussed reclassification of the microbial world. Examples of syndrome and pathogen networks illustrate how multilevel network representations of the relationships between infectious syndromes, pathogens and pathogen genomes can illuminate unexpected biological similarities in disease pathogenesis and epidemiology. Conclusions/Significance This new approach based on text and data mining can support the discovery of previously hidden associations between diseases and microbial pathogens, clinically relevant reclassification of pathogenic microorganisms and accelerate the translational research enterprise. PMID:20224767

  19. Alzheimer's disease after remote head injury: an incidence study.

    PubMed Central

    Schofield, P W; Tang, M; Marder, K; Bell, K; Dooneief, G; Chun, M; Sano, M; Stern, Y; Mayeux, R

    1997-01-01

    OBJECTIVE: To evaluate a history of remote head injury as a risk factor for subsequent dementia due to Alzheimer's disease. METHODS: 271 participants of a community based longitudinal study of aging in north Manhattan without evidence of significant cognitive impairment were interrogated for a history of head injury on two occasions at entry into the study. The examining physician sought a history of head injury with loss of conciousness. Independently, a risk factor interviewer inquired about a history of head injury with loss of consiousness or amnesia, the duration of any loss of consiousness, and the date of the head injury. Patients were followed up with standardised annual evaluations for up to five years to determine the first occurrence of dementia. RESULTS: Over the course of the study incident dementia due to probable or possible Alzheimer's disease was diagnosed in 39 patients. Cox proportional hazards modelling showed that a history of head injury with loss of consiousness reported to the physician was associated with earlier onset of dementia due to Alzheimer's disease (relative risk (RR) = 4.1, 95% confidence interval (95% CI) 1.3-12.7). head injury with loss of consiousness or amnesia reported to the risk factor interviewer was not significantly associated with earlier onset of Alzheimer's disease overall (RR 2.0, 95% CI 0.7-6.2), but those who reported loss of consiousness exceeding five minutes were at significantly increased risk (RR 11.2, 95% CI 2.3-59.8). Incident Alzheimer's disease was significantly associated with head injury which occurred within the preceding 30 years (RR 5.4, 95% CI 1.5-19.5). CONCLUSION: The results of this cohort study are consistent with the findings of several case-control studies suggesting that head injury may be a risk factor for Alzheimer's disease. PMID:9048710

  20. Neuroimaging studies of striatum in cognition part II: Parkinson's disease

    PubMed Central

    Hanganu, Alexandru; Provost, Jean-Sebastien; Monchi, Oury

    2015-01-01

    In recent years a gradual shift in the definition of Parkinson's disease (PD) has been established, from a classical akinetic-rigid movement disorder to a multi-system neurodegenerative disease. While the pathophysiology of PD is complex and goes much beyond the nigro-striatal degeneration, the striatum has been shown to be responsible for many cognitive functions. Patients with PD develop impairments in multiple cognitive domains and the PD model is probably the most extensively studied regarding striatum dysfunction and its influence on cognition. Up to 40% of PD patients present cognitive impairment even in the early stages of disease development. Thus, understanding the key patterns of striatum and connecting regions' influence on cognition will help develop more specific approaches to alleviate cognitive impairment and slow down its decline. This review focuses on the contribution of neuroimaging studies in understanding how striatum impairment affects cognition in PD. PMID:26500512

  1. Relationship between systemic diseases and endodontics: an online study guide.

    PubMed

    2008-05-01

    The Editorial Board of the Journal of Endodontics has developed a literature-based study guide of topical areas related to endodontics. This study guide is intended to give the reader a focused review of the essential endodontic literature and does not cite all possible articles related to each topic. Although citing all articles would be comprehensive, it would defeat the idea of a study guide. This section will cover the relationship between systemic diseases and endodontics.

  2. The ascending rank of chronic kidney disease in the global burden of disease study.

    PubMed

    Jager, Kitty J; Fraser, Simon D S

    2017-04-01

    General population-based studies, the chronic kidney disease (CKD) prognosis consortium and renal registries worldwide have contributed to the description of the scale of CKD as a public health problem. Since 1990, CKD has been included in the list of non-communicable diseases investigated by the Global Burden of Disease (GBD) study. The GBD represents a systematic, high-quality, scientific effort to quantify the comparative magnitude of health loss from all major diseases, injuries and risk factors. This article provides an outline of the place of CKD in the ranking of these diseases and the change over time. Whereas age-standardized death and disability-adjusted life years (DALYs) rates due to non-communicable diseases in general have been declining, such favourable trends do not exist for CKD. Altogether the GBD reports indicate increasing rates for death and DALYs due to CKD with huge variation across the globe. A substantial component of the observed increase in mortality attributable to CKD relates to that caused by diabetes mellitus and hypertension. For the increase in DALYs, CKD due to diabetes mellitus appears to be the main contributor. It is possible that these trends are in part due to new data becoming available or different coding behaviour over time, including greater specificity of coding. Although some feel there is evidence of overdiagnosis, it seems clear that in many regions CKD and its risk factors are a growing public health problem and in some of them rank very high as cause of years of life lost and DALYs. Therefore, public health policies to address this problem as well as secondary prevention in high-risk groups remain greatly needed. © The Author 2017. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  3. Early growth in children with coeliac disease: a cohort study.

    PubMed

    Kahrs, Christian R; Magnus, Maria C; Stigum, Hein; Lundin, Knut E A; Størdal, Ketil

    2017-06-13

    We aimed to study growth during the first 2 years of life in children later diagnosed with coeliac disease compared with children without, in a time with changing epidemiology and improved diagnostics. A prospective population-based pregnancy cohort study. The nationwide Norwegian Mother and Child Cohort Study. 58 675 children born between 2000 and 2009 with prospectively collected growth data. Coeliac disease was identified through combined data from questionnaires and the Norwegian Patient Register. The differences in height and weight at age 0, 3, 6, 8, 12, 15-18 and 24 months using internally standardised age and gender-specific z-scores. Linear regression and mixed models were used. During a median follow-up of 8.6 years (range 4.6-14.2), 440 children (0.8%) were diagnosed with coeliac disease at a mean age of 4.4 years (range 1.5-8.5). Children with coeliac disease had significantly lower z-scores for height from 12 months (-0.09 standard deviation scores (SDS), 95% CI -0.18 to -0.01) and weight from 15 to 18 months of life (-0.09 SDS, 95% CI -0.18 to -0.01) compared with cohort controls. The longitudinal analysis from 0 to 24 months yielded a significant reduction in height z-score per year (-0.07 SDS, 95% CI -0.13 to -0.01) but not for weight among children with coeliac disease. Excluding children diagnosed before age 2 years gave similar results. This study indicates that growth retardation in children later diagnosed with coeliac disease commonly starts at 12 months of age, and precedes clinical symptoms that usually bring the suspicion of diagnosis. © 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.

  4. Epidemiologic studies of environmental agents and systemic autoimmune diseases.

    PubMed Central

    Mayes, M D

    1999-01-01

    Systemic lupus erythematosus and systemic scleroderma are autoimmune diseases thought to have an exogenous trigger. This review summarizes relevant case-control and cohort studies that investigated exogenous sex hormones, silica, silicone, solvents, pesticides, mercuric chloride, and hair dyes as putative risk factors for the development of these diseases. These studies indicate that estrogen replacement therapy in postmenopausal women increases the risk of developing lupus, scleroderma, and Raynaud disease, although the increase in risk is relatively modest. Oral contraceptives may also play a role in disease susceptibility in lupus but not apparently in scleroderma. Environmental endocrine modulators, in the form of pesticides, may represent another opportunity for estrogenlike effects to occur, but there is scant evidence that these agents play a role in human systemic autoimmune disease. Although exposure to silica dust increases the risk of scleroderma in men occupied in the industry, this does not explain most male scleroderma cases. When this exposure was investigated among women, no significant risk was found. Additionally, silicone in implanted devices as well as occupational exposure to silicone-containing compounds did not pose an increased risk among women for scleroderma. The role of solvent exposure has been investigated as a risk factor for scleroderma with mixed findings. One study suggested a potential role in male patients or in those individuals with Scl-70 antibody positivity either male or female. Two other studies were unable to corroborate this finding. Mercuric chloride causes antifibrillarin antibodies and immune complex glomerulonephritis in susceptible mouse strains. Antifibrillarin antibodies, but not glomerulonephritis, occur in a subset of scleroderma patients and preliminary evidence suggests that mercury levels may be higher in this group of individuals. Hair products have been studied as possibly raising the risk of developing lupus

  5. 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.

  6. Epigenome-Wide Association Studies for common human diseases

    PubMed Central

    Rakyan, Vardhman K.; Down, Thomas A.; Balding, David J.; Beck, Stephan

    2012-01-01

    Despite the success of genome-wide association studies (GWAS) in identifying loci associated with common diseases, a significant proportion of the causality remains unexplained. Recent advances in genomic technologies have placed us in a position to initiate large-scale studies of human disease-associated epigenetic variation, specifically variation in DNA methylation (DNAm). Such Epigenome-Wide Association Studies (EWAS) present novel opportunities but also create new challenges that are not encountered in GWAS. We discuss EWAS study design, cohort and sample selections, statistical significance and power, confounding factors, and follow-up studies. We also discuss how integration of EWAS with GWAS can help to dissect complex GWAS haplotypes for functional analysis. PMID:21747404

  7. Drosophila tools and assays for the study of human diseases

    PubMed Central

    Ugur, Berrak; Chen, Kuchuan; Bellen, Hugo J.

    2016-01-01

    ABSTRACT Many of the internal organ systems of Drosophila melanogaster are functionally analogous to those in vertebrates, including humans. Although humans and flies differ greatly in terms of their gross morphological and cellular features, many of the molecular mechanisms that govern development and drive cellular and physiological processes are conserved between both organisms. The morphological differences are deceiving and have led researchers to undervalue the study of invertebrate organs in unraveling pathogenic mechanisms of diseases. In this review and accompanying poster, we highlight the physiological and molecular parallels between fly and human organs that validate the use of Drosophila to study the molecular pathogenesis underlying human diseases. We discuss assays that have been developed in flies to study the function of specific genes in the central nervous system, heart, liver and kidney, and provide examples of the use of these assays to address questions related to human diseases. These assays provide us with simple yet powerful tools to study the pathogenic mechanisms associated with human disease-causing genes. PMID:26935102

  8. Using Zebrafish to Study Kidney Development and Disease.

    PubMed

    Jerman, Stephanie; Sun, Zhaoxia

    2017-01-01

    The kidneys are a crucial pair of organs that are responsible for filtering the blood to remove waste, maintain electrolyte and water homeostasis, and regulate blood pressure. There are a number of factors, both genetic and environmental, that can impair the function of the kidneys resulting in significant morbidity and mortality for millions of people affected by kidney disease worldwide. The zebrafish, Danio rerio, has emerged as an attractive vertebrate model in the study of kidney development and disease and has proven to be a powerful tool in the advancement of how kidney development occurs in vertebrates and how the kidney repairs itself after injury. Zebrafish share significant similarities in kidney development and composition of nephrons, the functional unit of the kidney. This makes the zebrafish a very promising model to study the mechanisms by which renal developmental defects occur. Furthermore, zebrafish are ideally suited for the study of how vertebrate kidneys respond to injury and have provided researchers with invaluable information on repair processes after kidney injury. Importantly, zebrafish have profound potential for discovering treatment modalities and, in fact, studies in zebrafish models have provided leads for therapeutics for human patients suffering from kidney disease and kidney injury. Here, we discuss the similarities and differences in zebrafish and mammalian kidney models, and highlight some of the major contributions the zebrafish has made in the understanding of kidney development and disease. © 2017 Elsevier Inc. All rights reserved.

  9. Study of magnetic field of the brain in Parkinson's disease.

    PubMed

    Makhortykh, S A; Semechkin, R A

    2009-03-01

    The magnetic field of the brain in parkinsonism was studied. Magnetic encephalography data were analyzed by a comprehensive spectral method. Sources of magnetic activity of the brain were simulated by punctate current dipoles. Based on the results of classification, we detected the pattern of high magnetic activity; this opens new vistas for the diagnosis and treatment of Parkinson's disease.

  10. 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.

  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. ECIL recommendations for the use of biological markers for the diagnosis of invasive fungal diseases in leukemic patients and hematopoietic SCT recipients.

    PubMed

    Marchetti, O; Lamoth, F; Mikulska, M; Viscoli, C; Verweij, P; Bretagne, S

    2012-06-01

    As culture-based methods for the diagnosis of invasive fungal diseases (IFD) in leukemia and hematopoietic SCT patients have limited performance, non-culture methods are increasingly being used. The third European Conference on Infections in Leukemia (ECIL-3) meeting aimed at establishing evidence-based recommendations for the use of biological tests in adult patients, based on the grading system of the Infectious Diseases Society of America. The following biomarkers were investigated as screening tests: galactomannan (GM) for invasive aspergillosis (IA); β-glucan (BG) for invasive candidiasis (IC) and IA; Cryptococcus Ag for cryptococcosis; mannan (Mn) Ag/anti-mannan (A-Mn) Ab for IC, and PCR for IA. Testing for GM, Cryptococcus Ag and BG are included in the revised EORTC/MSG (European Organization for Research and Treatment of Cancer/Mycoses Study Group) consensus definitions for IFD. Strong evidence supports the use of GM in serum (A II), and Cryptococcus Ag in serum and cerebrospinal fluid (CSF) (A II). Evidence is moderate for BG detection in serum (B II), and the combined Mn/A-Mn testing in serum for hepatosplenic candidiasis (B III) and candidemia (C II). No recommendations were formulated for the use of PCR owing to a lack of standardization and clinical validation. Clinical utility of these markers for the early management of IFD should be further assessed in prospective randomized interventional studies.

  13. Inflammation and peripheral venous disease. The San Diego Population Study.

    PubMed

    Cushman, M; Callas, P W; Allison, M A; Criqui, M H

    2014-09-02

    The inflammatory response to healing in venous thrombosis might cause vein damage and post-thrombotic syndrome. Inflammation may also be involved in venous insufficiency apart from deep-vein thrombosis. We studied the association of inflammation markers with venous insufficiency in a general population sample. We characterised 2,404 men and women in a general population cohort for peripheral venous disease and its severity using physical exam, symptom assessment, and venous ultrasound. Inflammation markers, C-reactive protein (CRP), fibrinogen, interleukin 1-beta (IL-1-beta), IL-8, IL-10, intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), E-selectin, monocyte chemoattractant-1 (MCP-1) and vascular endothelial cell growth factor (VEGF) were compared in 352 case participants with peripheral venous disease and 352 controls with no venous abnormalities frequency matched to cases by age, sex and race. Associations were also evaluated including a subset of 108 cases of severe venous disease, as previously defined. Odds ratios (95% CI), for peripheral venous disease for biomarkers in the top quartile (adjusting for age, race, sex, body mass index and history of venous thrombosis) were 1.8 (1.1-3.0), 1.6 (1.0-2.5) and 1.5 (0.9-2.3) for CRP, fibrinogen and IL-10, respectively. Associations were larger considering cases of severe venous disease, with odds ratios for these three analytes of 2.6 (1.2-5.9), 3.1 (1.3-7.3) and 2.2 (1.1-4.4), and for IL-8: 2.4 (1.1-5.2). There was no association of IL-1-beta, ICAM-1, VCAM-1, E-selectin, MCP-1 or VEGF with overall cases or severe venous disease. In conclusion, a subset of inflammation markers were associated with increased risk of peripheral venous disease, suggesting potential therapeutic targets for treatment.

  14. [Clinical study on interstitial lung disease in children of China].

    PubMed

    Chen, Hui-zhong

    2011-10-01

    Interstitial lung disease in children represents a heterogeneous group of disorders of both known and unknown causes. This study aimed to understand better the causes of the disease in children and to provide information on the current approach to diagnosis and management of the disease. Through the Pediatric Diffuse Parenchymal Lung Disease/Pediatric Interstitial Lung Disease Cooperative Group of China, data of 93 cases of interstitial lung disease of children from 11 hospitals were collected with the same questionnaire in 2009. Respiratory tract secretions were obtained for bacterial culture. Respiratory virus antigen examination, mycoplasma antibody, EB virus, cytomegalovirus, and herpes simplex viruses antibody detection were performed. Cells in the sputum, gastric juice and bronchoalveolar lavage fluid (BALF) were tested for hemosiderin. The CT or high resolution CT (HRCT) of the lung and blood-gas analysis were also performed. Fourteen cases underwent lung biopsy and 25 cases underwent bronchomicrocopy. Data were then pooled and discussed through a series of meetings. Fifty-three cases were male, 40 were female and their age ranged from 8 months to 14 years. Thirty-nine cases were diagnosed as bronchiolitis obliterans (BO); 39 as idiopathic pulmonary hemosiderosis (IPH); 7 as idiopathic interstitial pneumonia (IIP) of unknown causes, of whom 4 cases had non specific interstitial pneumonia, 1 case as acute interstitial pneumonia and 1 case as lymphocytic interstitial pneumonia, 1 case as idiopathic pulmonary fibrosis; 2 cases as secondary interstitial lung disease, one was secondary to SLE, one to human immunodeficiency virus (HIV) infection; 2 cases had hypersensitive pneumonitis; 2 cases had pulmonary alveolar proteinosis; 1 case had bronchiolitis obliterans organizing pneumonia; 1 case had lipoid pneumonia;1 case of diffuse panbronchiolitis; 1 case of microlithiasis alveolaris pulmonum. Forty two cases had cough, 24 of them also had tachypnea, 8 cases had

  15. 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 [FEV1]) (-94.20 mL per year). Each 1% increase in FEV1 % 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 FEV1 (+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 FEV1 (-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.

  16. [Computed tomography in the study of periodontal disease].

    PubMed

    Lavezzi, P; Mengalli, P; Savoldi, E

    1993-10-01

    Periodontal disease, an affection of bacterial etiology, causes the destruction of the periodontal tissue. From both the diagnostic and the prognostic points of view, it is extremely important to evaluate the changes occurring in the alveolar bone in patients affected with periodontal disease. The information obtained by conventional radiographic techniques is usually poor due to the overlapping of anatomical structures and to the lack of an axial view of the structures. CT, thanks to millimetrical sections of the dental structures along the planes which parallel the hard palate, allows the evaluation of: 1) the size and the relationship between teeth roots, with no overlapping of anatomical structures; 2) bone thickness; 3) very early bone lesions around the teeth roots. The authors suggest CT as a valuable tool in the study of periodontal disease in its early stage and in the evaluation of advanced lesions, both before treatment and during follow-up, when it is important to check the results of conservative treatment.

  17. Applications of systems approaches in the study of rheumatic diseases

    PubMed Central

    Kim, Ki-Jo; Lee, Saseong

    2015-01-01

    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. PMID:25750554

  18. 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

  19. Issues affecting minority participation in research studies of Alzheimer disease.

    PubMed

    Welsh, Kathleen A; Ballard, Edna; Nash, Florence; Raiford, Kate; Harrell, Lindy

    1994-01-01

    Despite the need for minority subjects in research studies of Alzheimer disease (AD), the successful involvement of minority patients in such studies has been difficult. This report discusses the many societal, economic, logistical, and attitudinal barriers that have inhibited the participation of minority patients and their families in medical research programs of AD. Special consideration is given to the unique cultural issues that arise when conducting studies involving African-American elderly subjects. Methods are considered for overcoming the barriers to participation gleaned from the national study CERAD (Consortium to Establish a Registry of Alzheimer Disease) and other investigations of AD. Recommendations are made for future research programs targeted on the specific health care needs and concerns of the minority segments of our population.

  20. [Clinical and microbiological study of adult periodontal disease].

    PubMed

    Nogueira Moreira, A; Fernández Canigia, L; Furman, C; Chiappe, V; Marcantoni, M; Bianchini, H

    2001-01-01

    The aim of this study was to carry out a microbiological evaluation of sites with and without clinical evidence of moderate and severe periodontitis and their correlation with clinical parameters. A total of 52 disease sites and 10 healthy sites were selected according to clinical criteria. The following clinical indexes were measured for all the sites: plaque index, gingival index, blood on probing, depth on probing and insertion level. Samples of subgingival plaque were collected for culture and for differential counts of microbial morphotypes. In disease sites the most frequently isolated were: Prevotella intermedia/nigrescens (65%), Porphyromonas gingivalis (23%), Actinobacillus actinomycetemcomitans (23%), Fusobacterium nucleatum (10%) and Peptostreptococcus sp. (31%). The aerobic gram-positive microflora was predominant in healthy sites. Significant differences were observed in microbial morphotypes between healthy and disease sites: cocci 18.71% and 78.90%, motile rods 46.12% and 16.70%, total spirochetes 26.48% and 2.80%, respectively. The presence of motile rods, spirochetes and P. intermedia/nigrescens were the parameters with most sensitivity to suspect periodontal disease. There were significant differences in the subgingival microflora between healthy and disease sites in patients with moderate and severe periodontitis.

  1. Studies on the Metabolic Error in Refsum's Disease*

    PubMed Central

    Steinberg, Daniel; Mize, Charles E.; Avigan, Joel; Fales, Henry M.; Eldjarn, Lorentz; Try, Kenneth; Stokke, Oddvar; Refsum, Sigvald

    1967-01-01

    Studies utilizing mevalonic acid-2-14C and D2O as precursors failed to provide evidence for an appreciable rate of endogenous biosynthesis of phytanic acid in a patient with Refsum's disease. Orally administered tracer doses of phytol-U-14C were well absorbed both by seven normal control subjects (61 to 94%) and by two patients with Refsum's disease (74 and 80%). The fraction of the absorbed dose converted to 14CO2 in 12 hours was 3.5 and 5.8% in Refsum's disease patients and averaged 20.9% in seven control subjects. Labeled phytanic acid was demonstrated in the plasma of both control subjects and patients given phytol-U-14C, establishing phytol in the diet as a potential precursor of phytanic acid. This labeled phytanic acid had disappeared almost completely from the plasma of the seven control subjects by 24 to 48 hours, whereas it persisted at high concentrations in the plasma of the two patients for many days. We conclude that the phytanic acid accumulating in Refsum's disease is primarily of exogenous origin and that patients with Refsum's disease have a relative block in the degradation of phytanic acid and possibly other similar branched-chain compounds. This may relate to a deficiency in mechanisms for release of phytanic acid from stored ester forms or, more probably, to reactions essential to oxidative degradation of the carbon skeleton. PMID:4164676

  2. Neighborhood psychosocial hazards and cardiovascular disease: the Baltimore Memory Study.

    PubMed

    Augustin, Toms; Glass, Thomas A; James, Bryan D; Schwartz, Brian S

    2008-09-01

    We examined associations between cardiovascular disease and neighborhood psychosocial hazards, such as violent crime, abandoned buildings, and signs of incivility, to evaluate whether features of place are associated with older adult health. We analyzed first-visit data from the Baltimore Memory Study of randomly selected residents aged 50 to 70 years (n=1140) of 65 contiguous neighborhoods in Baltimore, Maryland. We looked for associations between self-reports of history of selected cardiovascular diseases and scores on the 12-item neighborhood psychosocial hazards scale. After adjustment for established individual risk factors for cardiovascular disease, residents in neighborhoods with scores in the highest quartile of the psychosocial hazards scale had more than 4 times higher odds of a history of myocardial infarction and more than 3 times higher odds of myocardial infarction, stroke, transient ischemic attack, or intermittent claudication compared with residents living in neighborhoods scoring in the lowest quartile. Neighborhood psychosocial hazards were significantly associated with self-reported cardiovascular disease after adjustment for individual-level risk factors. This is consistent with the hypothesis that environmental stress plays a role in the etiology of cardiovascular disease.

  3. 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.

  4. Prevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina.

    PubMed

    Jaurretche, Sebastián; Antogiovanni, Norberto; Perreta, Fernando

    2017-09-01

    Nephropathy is one of the major complications of Fabry Disease (FD) and mainly includes reduced glomerular filtration rate (GFR) and proteinuria. Despite the frequency, scarce information exists regarding the frequency of CKD as well as other related complications in FD patients in Argentina. The aim of the study was to measure the prevalence of CKD at diagnosis of FD as well as to describe other related conditions in a large cohort of patients with FD. Methods: a cross-sectional study performed in three FD centers of Argentina during January 2014 and January 2016. Information at diagnosis regarding patient demographics, disease characteristics, key laboratory values, and renal, cardiac, cerebrovascular diseases and other related complications were collected. Results: A total of 60 patients were included. The mean age at diagnosis was 25.5 ± 16 years. 42% of included patients presented CKD in which the disease was mild (GFR ≥ 60 and < 90) in 60% (n = 15), moderate (GFR ≥ 30 and < 60) in 16% (n = 4), severe (GFR ≥ 15 and < 30) in 4% (n = 1) and failure (GFR < 15) in 20% (n = 5). Arrhythmias were reported for 13.3% of patients. In 33.3% the echocardiographic evaluation demonstrated left ventricular hypertrophy and peripheral neuropathy in 63.3%. Conclusion: This study presents information regarding the prevalence of CKD in a large cohort of FD patients at the moment of diagnosis in Argentina. Future studies will help us to confirm these initial findings.

  5. [Clinical study on development of nontuberculous mycobacterial lung disease].

    PubMed

    Kurashima, Atsuyuki

    2004-12-01

    problem, most are still unidentified. STUDY OF MAC LUNG DISEASE TREATMENT: It was known that Mycobacterium kansasii lung disease is healed with a chemotherapy like analog of anti-tuberculosis chemotherapy, already in those days. However, the results of MAC lung disease chemotherapy were extremely poor. We tried to express a physicians experience quantitatively as follows, in 1987. The results of 8 weeks sputum culture on Ogawa egg medium were converted semi-quantitatively to CFU numbers based on "Japanese standard guideline of Mycobacterium tuberculosis inspection". We exhibit the ratio of post-treatment consecutive 6 months culture yield to pre-treatment culture yield as response rate, about 110 pulmonary MAC cases. Through this study, we clarify the followings. The results of chemotherapy do not correlate susceptibility test for Mycobacterium tuberculosis. Multidrug regimen is more useful. Small extent of lesion is more responsive. Combination with aminoglycoside chemotherapy is more effective. These conclusions were almost same as the ATS guideline of 1990. New drugs such as, new macrolides and new quinolones appeared for pulmonary MAC treatment through the feedback from systemic MAC complicated AIDS treatments from the latter half of 90's. We measured the sensitive strain ratio at 2 mcg/ml of OFLX, CPFX, LVFX about 990 clinical isolates and could expect availability for M. kansasii or M. fortuitum, but these new quinolones are not enough effective for MAC. Also we examined MIC for various antimycobacterial agent by 50 MAC clinical isolates, and we could expect a certain availability of SPFX, GFLX, CPFX, CAM for MAC. The availability of clarithromycin (CAM) has been established through many randomized clinical trials for disseminated MAC complicated AIDS, but for pulmonary MAC, complete cure is still difficult if we use CAM including regimen. We performed surgical treatment for relatively young patients with localized lesions. We carry out the adaptation reference such

  6. [Vascular risk factors and Alzheimer disease risk: epidemiological studies review].

    PubMed

    Cowppli-Bony, Pascale; Dartigues, Jean-François; Orgogozo, Jean-Marc

    2006-03-01

    Etiology of Alzheimer's disease (AD) is still undefined in its most frequent sporadic type, but a role of vascular risk factor is more and more evocated in its pathophysiology. This role enables to hope that preventive or curative care of vascular risk factors could decrease AD incidence. Among these factors, high blood pressure, diabetes, hypercholesterolemia and tobacco consumption were the most studied. We review the risk for AD, which had been associated with each of these factors in epidemiological studies. High blood pressure is associated with an increased risk of AD in most studies while the results are more controversial for the others factors. All these four vascular risk factors have variable interaction with the presence of cerebrovascular diseases and of the epsilon 4 allele of the apolipoprotein E gene which is a predisposition factor for sporadic AD.

  7. Acupuncture points for treating Parkinson's disease based on animal studies.

    PubMed

    Kwon, Sunoh; Seo, Byung-Kwan; Kim, Seungtae

    2016-10-01

    Parkinson's disease (PD) is a well-known neurodegenerative disease caused by dopaminergic cell death in the nigrostriatal pathway. Recent studies have shown that acupuncture can be a potential therapy for the treatment of PD, but it is not clear which acupuncture points (acupoints) play major roles in reliving symptoms of PD. Yanglingquan (GB 34), Zusanli (ST 36), Fengfu (GV 16), Taichong (LR 3), Baihui (GV 20) and Dazhui (GV 14) acupoints have frequently been to investigate the effectiveness and action mechanism of acupuncture for treating PD, but it is not clear why they were selected. This review summarizes the current understanding of the acupoints for PD treatment based on Oriental medicine theories and on the accumulated findings from previous animal studies. The results of this study will be useful to development of a strategy for future research in this field.

  8. The Nakuru eye disease cohort study: methodology & rationale

    PubMed Central

    2014-01-01

    Background No longitudinal data from population-based studies of eye disease in sub-Saharan-Africa are available. A population-based survey was undertaken in 2007/08 to estimate the prevalence and determinants of blindness and low vision in Nakuru district, Kenya. This survey formed the baseline to a six-year prospective cohort study to estimate the incidence and progression of eye disease in this population. Methods/Design A nationally representative sample of persons aged 50 years and above were selected between January 2007 and November 2008 through probability proportionate to size sampling of clusters, with sampling of individuals within clusters through compact segment sampling. Selected participants underwent detailed ophthalmic examinations which included: visual acuity, autorefraction, visual fields, slit lamp assessment of the anterior and posterior segments, lens grading and fundus photography. In addition, anthropometric measures were taken and risk factors were assessed through structured interviews. Six years later (2013/2014) all subjects were invited for follow-up assessment, repeating the baseline examination methodology. Discussion The methodology will provide estimates of the progression of eye diseases and incidence of blindness, visual impairment, and eye diseases in an adult Kenyan population. PMID:24886366

  9. Coeliac disease and invasive pneumococcal disease: a population-based cohort study.

    PubMed

    Röckert Tjernberg, A; Bonnedahl, J; Inghammar, M; Egesten, A; Kahlmeter, G; Nauclér, P; Henriques-Normark, B; Ludvigsson, J F

    2017-04-01

    Severe infections are recognized complications of coeliac disease (CD). In the present study we aimed to examine whether individuals with CD are at increased risk of invasive pneumococcal disease (IPD). To do so, we performed a population-based cohort study including 29 012 individuals with biopsy-proven CD identified through biopsy reports from all pathology departments in Sweden. Each individual with CD was matched with up to five controls (n = 144 257). IPD events were identified through regional and national microbiological databases, including the National Surveillance System for Infectious Diseases. We used Cox regression analyses to estimate hazard ratios (HRs) for diagnosed IPD. A total of 207 individuals had a record of IPD whereas 45/29 012 had CD (0·15%) and 162/144 257 were controls (0·11%). This corresponded to a 46% increased risk for IPD [HR 1·46, 95% confidence interval (CI) 1·05-2·03]. The risk estimate was similar after adjustment for socioeconomic status, educational level and comorbidities, but then failed to attain statistical significance (adjusted HR 1·40, 95% CI 0·99-1·97). Nonetheless, our study shows a trend towards an increased risk for IPD in CD patients. The findings support results seen in earlier research and taking that into consideration individuals with CD may be considered for pneumococcal vaccination.

  10. [Mouth diseases and dental materials: potential for study with cytofluorometry].

    PubMed

    Tabaj, D; Braulin, L; Frezzini, C; Visintini, E; Maglione, M; Melato, M

    2000-01-01

    The potential dental materials have of inducing mouth diseases is well known, and various methods have been developed to investigate this phenomenon. Among these there are histological studies of the pulp and periodontium exposed to dental materials, both in vivo and in vitro in humans and animals. Other studies are based on the clinical observation of the effects induced by dental materials. Aim of the paper is to evaluate the use of flow cytometry to analyse crevicular fluid to study its content in terms of inflammatory cells and inflammation mediators. Samples of crevicular fluid were collected by aspiration using a bevelled needle mounted on a 5 ml syringe from patients without periodontitis and with periodontitis and multiple heterogeneous dental restorations. This method was adopted since it allows to place the cells of the fluid in suspension. Part of the fluid was analysed by cytology and part by flow cytometry. In the patients without periodontal disease cytological examination revealed the presence of desquamated epithelial cells and colonies of cocci, rods and spirochaetae. In the patients with periodontal disease the same examination revealed, besides the above, the presence of inflammatory cells. Flow cytometry confirmed the findings of cytological examination, thus proving to be an effective method for studying crevicular fluid. This method allows to identify specific inflammatory cells or mediators of inflammation in crevicular fluid and may therefore prove to be very useful in the study of alterations induced by some dental materials at the level of the gingival sulcus.

  11. Network theory to understand microarray studies of complex diseases.

    PubMed

    Benson, Mikael; Breitling, Rainer

    2006-09-01

    Complex diseases, such as allergy, diabetes and obesity depend on altered interactions between multiple genes, rather than changes in a single causal gene. DNA microarray studies of a complex disease often implicate hundreds of genes in the pathogenesis. This indicates that many different mechanisms and pathways are involved. How can we understand such complexity? How can hypotheses be formulated and tested? One approach is to organize the data in network models and to analyze these in a top-down manner. Globally, networks in nature are often characterized by a small number of highly connected nodes, while the majority of nodes have few connections. The highly connected nodes serve as hubs that affect many other nodes. Such hubs have key roles in the network. In yeast cells, for example, deletion of highly connected proteins is associated with increased lethality, compared to deletion of less connected proteins. This suggests the biological relevance of networks. Moving down in the network structure, there may be sub-networks or modules with specific functions. These modules may be further dissected to analyze individual nodes. In the context of DNA microarray studies of complex diseases, gene-interaction networks may contain modules of co-regulated or interacting genes that have distinct biological functions. Such modules may be linked to specific gene polymorphisms, transcription factors, cellular functions and disease mechanisms. Genes that are reliably active only in the context of their modules can be considered markers for the activity of the modules and may thus be promising candidates for biomarkers or therapeutic targets. This review aims to give an introduction to network theory and how it can be applied to microarray studies of complex diseases.

  12. Plasma Metabolomics in Human Pulmonary Tuberculosis Disease: A Pilot Study

    PubMed Central

    Frediani, Jennifer K.; Jones, Dean P.; Tukvadze, Nestan; Uppal, Karan; Sanikidze, Eka; Kipiani, Maia; Tran, ViLinh T.; Hebbar, Gautam; Walker, Douglas I.; Kempker, Russell R.; Kurani, Shaheen S.; Colas, Romain A.; Dalli, Jesmond; Tangpricha, Vin; Serhan, Charles N.; Blumberg, Henry M.; Ziegler, Thomas R.

    2014-01-01

    We aimed to characterize metabolites during tuberculosis (TB) disease and identify new pathophysiologic pathways involved in infection as well as biomarkers of TB onset, progression and resolution. Such data may inform development of new anti-tuberculosis drugs. Plasma samples from adults with newly diagnosed pulmonary TB disease and their matched, asymptomatic, sputum culture-negative household contacts were analyzed using liquid chromatography high-resolution mass spectrometry (LC-MS) to identify metabolites. Statistical and bioinformatics methods were used to select accurate mass/charge (m/z) ions that were significantly different between the two groups at a false discovery rate (FDR) of q<0.05. Two-way hierarchical cluster analysis (HCA) was used to identify clusters of ions contributing to separation of cases and controls, and metabolomics databases were used to match these ions to known metabolites. Identity of specific D-series resolvins, glutamate and Mycobacterium tuberculosis (Mtb)-derived trehalose-6-mycolate was confirmed using LC-MS/MS analysis. Over 23,000 metabolites were detected in untargeted metabolomic analysis and 61 metabolites were significantly different between the two groups. HCA revealed 8 metabolite clusters containing metabolites largely upregulated in patients with TB disease, including anti-TB drugs, glutamate, choline derivatives, Mycobacterium tuberculosis-derived cell wall glycolipids (trehalose-6-mycolate and phosphatidylinositol) and pro-resolving lipid mediators of inflammation, known to stimulate resolution, efferocytosis and microbial killing. The resolvins were confirmed to be RvD1, aspirin-triggered RvD1, and RvD2. This study shows that high-resolution metabolomic analysis can differentiate patients with active TB disease from their asymptomatic household contacts. Specific metabolites upregulated in the plasma of patients with active TB disease, including Mtb-derived glycolipids and resolvins, have potential as biomarkers

  13. Novel Methods in Disease Biogeography: A Case Study with Heterosporosis.

    PubMed

    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

  14. 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.

  15. Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease: A European population study.

    PubMed

    Dale, Maria; Maltby, John; Shimozaki, Steve; Cramp, Rebecca; Rickards, Hugh

    2016-01-01

    Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington's disease. However, among certain medical populations, evidence of sex differences in mood across various disease stages has been found, reflecting trends among the general population that women tend to experience anxiety and depression 1.5 to 2 times more than men. The current study examined whether disease stage and sex, either separately or as an interaction term, predicted anxiety and depression in Huntington's disease. A cross-sectional study of REGISTRY data involving 453 Huntington's disease participants from 12 European countries was undertaken using the Hospital Anxiety and Depression Scale. A series of multiple regression analyses were undertaken to discover to what extent disease stage and sex predicted anxiety, depression, and general distress after controlling for a number of known predictors of mood difficulties. Disease stage, but not sex, was found to predict depressive symptoms and general distress. Neither disease stage nor sex predicted anxiety. Furthermore, an interaction term computed for disease stage and sex did not contribute to the models tested. In terms of considering risks to developing depression and anxiety in the Huntington's disease population, practitioners may need to pay special attention to disease stage progression (but not sex differences) to enable early detection and treatment of depression (but not anxiety). Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Circulatory disease mortality in the Massachusetts tuberculosis fluoroscopy cohort study.

    PubMed

    Little, Mark P; Zablotska, Lydia B; Brenner, Alina V; Lipshultz, Steven E

    2016-03-01

    High-dose ionizing radiation is associated with circulatory disease. Risks from lower-dose fractionated exposures, such as from diagnostic radiation procedures, remain unclear. In this study we aimed to ascertain the relationship between fractionated low-to-medium dose radiation exposure and circulatory disease mortality in a cohort of 13,568 tuberculosis patients in Massachusetts, some with fluoroscopy screenings, between 1916 and 1961 and follow-up until the end of 2002. Analysis of mortality was in relation to cumulative thyroid (cerebrovascular) or lung (all other circulatory disease) radiation dose via Poisson regression. Over the full dose range, there was no overall radiation-related excess risk of death from circulatory disease (n = 3221; excess relative risk/Gy -0.023; 95% CI -0.067, 0.028; p = 0.3574). Risk was somewhat elevated in hypertensive heart disease (n = 89; excess relative risk/Gy 0.357; 95% CI -0.043, 1.030, p = 0.0907) and slightly decreased in ischemic heart disease (n = 1950; excess relative risk/Gy -0.077; 95% CI -0.130, -0.012; p = 0.0211). However, under 0.5 Gy, there was a borderline significant increasing trend for all circulatory disease (excess relative risk/Gy 0.345; 95% CI -0.032, 0.764; p = 0.0743) and for ischemic heart disease (excess relative risk/Gy 0.465; 95% CI, -0.032, 1.034, p = 0.0682). Pneumolobectomy increased radiation-associated risk (excess relative risk/Gy 0.252; 95% CI 0.024, 0.579). Fractionation of dose did not modify excess risk. In summary, we found no evidence of radiation-associated excess circulatory death risk overall, but there are indications of excess circulatory death risk at lower doses (<0.5 Gy). Although consistent with other radiation-exposed groups, the indications of higher risk at lower doses are unusual and should be confirmed against other data.

  17. 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.

  18. Systemic Inflammation in Cardiovascular and Periodontal Disease: Comparative Study

    PubMed Central

    Glurich, Ingrid; Grossi, Sara; Albini, Boris; Ho, Alex; Shah, Rashesh; Zeid, Mohamed; Baumann, Heinz; Genco, Robert J.; De Nardin, Ernesto

    2002-01-01

    Epidemiological studies have implicated periodontal disease (PD) as a risk factor for the development of cardiovascular disease (CVD). These studies addressed the premise that local infection may perturb the levels of systemic inflammatory mediators, thereby promoting mechanisms of atherosclerosis. Levels of inflammatory mediators in the sera of subjects with only PD, only CVD, both diseases, or neither condition were compared. Subjects were assessed for levels of C-reactive protein (CRP), serum amyloid A (SAA), ceruloplasmin, α1-acid-glycoprotein (AAG), α1-antichymotrypsin (ACT), and the soluble cellular adhesion molecules sICAM-1 and sVCAM by enzyme-linked immunoabsorbent and/or radial immunodiffusion assays. CRP levels in subjects with either condition alone were elevated twofold above subjects with neither disease, whereas a threefold increase was noted in subjects with both diseases (P = 0.0389). Statistically significant increases in SAA and ACT were noted in subjects with both conditions compared to those with one or neither condition (P = 0.0162 and 0.0408, respectively). Ceruloplasmin levels were increased in subjects with only CVD (P = 0.0001). Increases in sVCAM levels were noted in all subjects with CVD (P = 0.0054). No differences in sICAM levels were noted among subject groups. A trend toward higher levels of AAG was noted in subjects with both conditions and for ACT in subjects with only PD. Immunohistochemical examination of endarterectomy specimens of carotid arteries from subjects with atherosclerosis documented SAA and CRP deposition in association with atheromatous lesions. The data support the hypothesis that localized persistent infection may influence systemic levels of inflammatory mediators. Changes in inflammatory mediator levels potentially impact inflammation-associated atherosclerotic processes. PMID:11874889

  19. 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.

  20. A case-control study of Alzheimer's disease in Australia.

    PubMed

    Broe, G A; Henderson, A S; Creasey, H; McCusker, E; Korten, A E; Jorm, A F; Longley, W; Anthony, J C

    1990-11-01

    We conducted a case-control study of clinically diagnosed Alzheimer's disease (AD) on 170 cases aged 52 to 96 years, and 170 controls matched for age, sex and, where possible, the general practice of origin. Trained lay interviewers naive to the hypotheses and to the clinical status of the elderly person carried out risk-factor interviews with informants. Significant odds ratios were found for 4 variables: a history of either dementia, probable AD, or Down's syndrome in a 1st-degree relative, and underactivity as a behavioral trait in both the recent and more distant past. Previously reported or suggested associations not confirmed by this study include head injury, starvation, thyroid disease, analgesic abuse, antacid use (aluminum exposure), alcohol abuse, smoking, and being left-handed.

  1. [Evolutionary study of 81 children with celiac disease].

    PubMed

    Danus, O; Larraín, F; Urbina, A M

    1979-01-01

    A review of 81 children with celiac disease over a period of 5 years is presented. These cases were seen at the Gastroenterological Unit of the Hospital de Nińos Roberto del Río, during years 1970 through 1972. 62% of the patients (50) were placed under control of their disease, the rest were studied and diagnosed only for other centers. The short term evolution was good in 48 children (96%), while the medium and long term evolution, 2 to 5 years, was good only in 56% of the patients. This evolution was in direct relationship to the fulfillment of the dietary indications. The therapeutic test was positive among the studied group. A delay was observed in 80% of the cases that lasted from 1 to 6 months. The clinical and laboratory features of the group are analyzed, and the working method is described.

  2. Buccopalpebral reflex in Parkinson disease and blink reflex study.

    PubMed

    Unal, Yasemin; Kutlu, Gulnihal; Erdal, Abidin; Inan, Levent E

    2013-07-01

    To define a new primitive reflex named the buccopalpebral reflex (BPR), and to investigate this reflex clinically and neurophysiologically in patients with Parkinson disease. This prospectively designed study included 17 patients, 9 BPR positive patients, and 8 BPR negative patients in Ankara Research and Training Hospital, Ankara, Turkey, and was carried out between January and December 2008. All patients had Parkinson disease without any medication. Using the blink reflex technique, 3 branches of the trigeminal nerve were stimulated. Additionally, the Mini Mental State Examination (MMSE), the Unified Parkinson`s Disease Rating Scale (UPDRS), the Hoehn and Yahr Score (HYS), the blink frequency, and the duration of Parkinson disease was also matched between the 2 groups. In patients with positive BPR, 5 had tremor and the remaining 4 had bradykinesia as a dominant symptom, while all other patients with negative BPR had only tremor. When blink reflex findings were compared between the 2 groups, R2 and contralateral R2 latencies that were taken by supraorbital stimulus were significantly shorter in the BPR positive patients. There were no statistically significant differences in terms of MMSE, UPDRS, HYS, and frequency of blinking, and duration of illness between the 2 groups. This reflex may be an indicator of sensitivity or decrease of threshold level such as Myerson`s sign, in which there is no inhibition in glabella reflex. The blink reflex findings support this hypothesis.

  3. Laryngeal disease in cats: a retrospective study of 35 cases.

    PubMed

    Taylor, Samantha S; Harvey, Andrea M; Barr, Frances J; Moore, Alasdair H; Day, Michael J

    2009-12-01

    The aim of this retrospective study was to review the medical records of cats referred to the University of Bristol for investigation of laryngeal disease (n=35). Cases were categorised into one of four groups: cats with laryngeal paralysis (LP, n=14), laryngeal neoplasia (n=10), laryngeal inflammation (n=6), or miscellaneous laryngeal diseases (n=5). Laryngoscopy and echolaryngography were useful diagnostic techniques but histology was required for diagnosis of diseases other than LP. Two cats with lymphoma received chemotherapy achieving survival times of 60 and 1440 days. Four cats with LP were treated surgically, with a median survival time of 300 days (range 10-360 days) and six were treated conservatively with a median survival time of 780 days (range 300-2520 days). Three cats with inflammatory disease were treated medically and one by excision of the lesion. Two cats achieved survival times of 120 and 2800 days. Cats with LP, laryngeal lymphoma or laryngitis had excellent long-term survival following appropriate treatment.

  4. Parkinson's disease and forced exercise: a preliminary study.

    PubMed

    Qutubuddin, Abu; Reis, Timothy; Alramadhani, Raed; Cifu, David X; Towne, Alan; Carne, William

    2013-01-01

    Objective. The concept of forced exercise has drawn attention for the treatment of Parkinson's disease symptoms with anecdotal reports of success. This study sought to ascertain any significant effect of forced exercise using a motorized stationary bicycle when compared to controls on Parkinson's disease symptoms in a blinded, randomized, and controlled setting. Setting. Parkinson's disease outpatient clinic, Veterans Administration Medical Center. Method. We assessed 23 patients (13 experimental and 10 controls) on a number of standard Parkinson's measures at baseline, after participation in eight weeks of twice weekly forced exercise or eight weeks of conventional clinic care, and then after a three-month period had elapsed. Dependent measures were UPDRS-III, Berg Balance Scale, finger taping test, and the PDQ-39. Results. Results did not demonstrate any main effect differences between the exercise and control groups on any measure at any point in time. A within subjects effect was demonstrated for the forced exercise group on overall UPDRS-III scores at the three-month end point. No other within group effects were noted. Results suggest that early enthusiasm for forced exercise may need tempering. Limitations of the study are discussed as well as numerous logistical challenges to this type of study.

  5. Parkinson's Disease and Forced Exercise: A Preliminary Study

    PubMed Central

    Reis, Timothy; Alramadhani, Raed; Cifu, David X.; Towne, Alan; Carne, William

    2013-01-01

    Objective. The concept of forced exercise has drawn attention for the treatment of Parkinson's disease symptoms with anecdotal reports of success. This study sought to ascertain any significant effect of forced exercise using a motorized stationary bicycle when compared to controls on Parkinson's disease symptoms in a blinded, randomized, and controlled setting. Setting. Parkinson's disease outpatient clinic, Veterans Administration Medical Center. Method. We assessed 23 patients (13 experimental and 10 controls) on a number of standard Parkinson's measures at baseline, after participation in eight weeks of twice weekly forced exercise or eight weeks of conventional clinic care, and then after a three-month period had elapsed. Dependent measures were UPDRS-III, Berg Balance Scale, finger taping test, and the PDQ-39. Results. Results did not demonstrate any main effect differences between the exercise and control groups on any measure at any point in time. A within subjects effect was demonstrated for the forced exercise group on overall UPDRS-III scores at the three-month end point. No other within group effects were noted. Results suggest that early enthusiasm for forced exercise may need tempering. Limitations of the study are discussed as well as numerous logistical challenges to this type of study. PMID:23853722

  6. Antioxidants as adjuvant therapy in rheumatoid disease. A preliminary study.

    PubMed

    Helmy, M; Shohayeb, M; Helmy, M H; el-Bassiouni, E A

    2001-01-01

    The aim of the present study was to assess the therapeutic value of adding a high dose of vitamin E or an antioxidant combination to the treatment regimen of the rheumatoid disease. The study was carried out on 30 patients with rheumatoid disease diagnosed according to the criteria of American Rheumatism Association (ARA), subvided into three equal groups. Patients in group I received a standard treatment of intramuscular methotrexate (CAS 59-05-2; 12.5 mg/week), oral sulphasalazine (CAS 599-79-1; 0.5 g b.i.d.) and indometacin (CAS 53-86-1; 100 mg suppository at bed-time). In group II the patients received the standard treatment plus a combination of antioxidants. Patients in group III received a high dose of vitamin E (400 mg t.i.d.) in addition to the standard treatment. The disease state was evaluated using Ritchle's articular score index and the duration of morning stiffness. Laboratory evaluations included the rheumatoid factor, erythrocyte sedimentation rate (ESR), plasma levels of vitamin E and malonedialdehyde (MDA), and the activity of glutathione peroxidase (GPx). In the group receiving the standard regimen, the patients started to feel tangible improvement by the end of the second month. With adjuvant therapy of either the antioxidant combination or a high dose of vitamin E the symptoms of arthritis were better controlled from the first month. By the end of the second month, the values of the three monitoring tests were significantly decreased indicating better control of the disease. The percentage increase in the activity of GPx was highest in patients taking the antioxidant combination and least in those taking the standard treatment. The decrease in plasma MDA followed the same pattern. With adjuvant therapy, the vitamin E level in plasma increased with the duration of treatment. The results obtained in the present study are encouraging. The clinical improvement and the shift in the disease indices towards normal make the use of antioxidants as

  7. [Study on burden of disease in Chongqing, 2010-2013].

    PubMed

    Wen, Xiaoyan; Sun, Anlong; Peng, Bin; Xu, Xiaolan; Tan, Tao; Xu, Yuchen; Hu, Shan; Chen, Jiangpeng; Que, Ping

    2015-10-01

    To analysis the burden of diseases (BOD) and economic burden of disease (EBOD) in Chongqing and provide scientific evidence for effective prevention and control of diseases. The burden of diseases of Chongqing were estimated by use of disability-adjusted life year (DALY) from 2010 to 2013, two-step method was used in the calculation of direct economic burden of diseases. DALY combined with the human capital method were used to measure the indirect economic burden. From 2010 to 2013, DALY loss by all causes for the residents in Chongqing were 123.90, 127.01, 123.30 and 125.99 person year per thousand persons, respectively. The diseases mainly included non-communicable diseases, accounting for 83%-87%, followed by injure and infectious diseases. The five leading diseases of BOD in Chongqing were respiratory system disease, circulatory system disease, malignant tumor, accidental death, neuropsychiatric disease, respectively. The total economic burden of diseases was 1 621.34 million yuan RMB in 2013. The direct and indirect economic burden of diseases were 794.42 million yuan RMB and 826.92 million yuan RMB, which could be attributed to circulatory system disease, respiratory system diseases, injury, malignant tumor and muscle bones and connective tissue diseases. Respiratory system disease, circulatory system diseases, malignant tumor, and injury have caused heavy burden both in people's health and economic status in Chongqing. It is necessary to take effective measures to prevent and control these diseases.

  8. 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

  9. 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

  10. Motor vehicle accidents in Parkinson's disease: A questionnaire study.

    PubMed

    Ueno, T; Kon, T; Haga, R; Nishijima, H; Tomiyama, M

    2017-09-25

    Few studies have investigated the risk factors for motor vehicle accidents (MVA) in individuals with Parkinson's disease (PD) in Japan. We sent an anonymous questionnaire to 1417 patients with PD who had received medical care certificates for Intractable Diseases during the 2014 fiscal year from the Aomori Prefectural Government in Japan. Data from patients with PD who previously or currently held a driving license at the time of the survey were analyzed. Complete datasets were obtained from 384 patients with PD who were either past or present driving license holders. Fifty-seven patients had caused at least one MVA in the last 5 years before the survey. Logistic regression analyses revealed that ergot-dopamine agonist (DA) use and excessive daytime sleepiness (Epworth Sleepiness Scale score ≥ 10) were the best predictors of MVAs. Patients having caused non-sleep-related MVAs had significantly longer disease durations, more frequent ergot-DA use, and higher cognition and communication subscores on the Parkinson's Disease Questionnaire-39 than those without non-sleep-related MVAs (P < .05). The Epworth Sleepiness Scale scores of PD patients with sleep-related MVAs were significantly higher than those of patients without sleep-related MVAs (P < .01). Excessive daytime sleepiness and ergot-DA use may be important predictive risk factors for MVAs in PD. Daytime sleepiness appears to be related to sleep-related MVAs in PD, whereas disease progression and ergot-DA use may contribute to non-sleep-related MVAs. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Quantitative thermophoretic study of disease-related protein aggregates.

    PubMed

    Wolff, Manuel; Mittag, Judith J; Herling, Therese W; Genst, Erwin De; Dobson, Christopher M; Knowles, Tuomas P J; Braun, Dieter; Buell, Alexander K

    2016-03-17

    Amyloid fibrils are a hallmark of a range of neurodegenerative disorders, including Alzheimer's and Parkinson's diseases. A detailed understanding of the physico-chemical properties of the different aggregated forms of proteins, and of their interactions with other compounds of diagnostic or therapeutic interest, is crucial for devising effective strategies against such diseases. Protein aggregates are situated at the boundary between soluble and insoluble structures, and are challenging to study because classical biophysical techniques, such as scattering, spectroscopic and calorimetric methods, are not well adapted for their study. Here we present a detailed characterization of the thermophoretic behavior of different forms of the protein α-synuclein, whose aggregation is associated with Parkinson's disease. Thermophoresis is the directed net diffusional flux of molecules and colloidal particles in a temperature gradient. Because of their low volume requirements and rapidity, analytical methods based on this effect have considerable potential for high throughput screening for drug discovery. In this paper we rationalize and describe in quantitative terms the thermophoretic behavior of monomeric, oligomeric and fibrillar forms of α-synuclein. Furthermore, we demonstrate that microscale thermophoresis (MST) is a valuable method for screening for ligands and binding partners of even such highly challenging samples as supramolecular protein aggregates.

  12. Cold-agglutinin hemolytic diseases, a rheo-optical study.

    PubMed

    Plá, Laura Verónica; Stoltz, Jean François; Valverde, Juana R; Riquelme, Bibiana D

    2008-01-01

    The aim of this study was to analyze the strength of red blood cells agglutination, induced by autoantibodies in patients with Cold-Agglutinin Hemolytic Disease (CAHD), and the hemorheological profile (deformability and osmotic fragility) by the utilization of rheo-optical techniques. The strength of the antigen-antibody reaction was approached by the work required to dissociate mechanically red blood cells agglutinates. It is focused on the evaluation of the qualitative adhesiveness of cell approached by the dissociation kinetics carried out in a Couette flow (erythroaggregameter). The analysis was performed by recording the increase of the reflectivity signal as the agglutinates are dissociated by shear into smaller ones. A total of eight patients aged <54 years with recent diagnostic of CAHD detected by positive Direct Anti-globulin Test (DAT) and very low RBC counts at 20 degrees C, were studied. Two parametric values were interesting: the dimensionless energy parameter and the characteristic dissociation time, which showed good correlation with hematological parameters. In conclusion, the dissociation method provides a powerful tool for estimating the qualitative adhesiveness of red blood cells agglutinated by autoantibodies in patients suffering of cold-agglutinin hemolytic disease and it would be very interesting to evaluate the severity of the disease.

  13. Quantitative thermophoretic study of disease-related protein aggregates

    PubMed Central

    Wolff , Manuel; Mittag, Judith J.; Herling, Therese W.; Genst, Erwin De; Dobson, Christopher M.; Knowles, Tuomas P. J.; Braun, Dieter; Buell, Alexander K.

    2016-01-01

    Amyloid fibrils are a hallmark of a range of neurodegenerative disorders, including Alzheimer’s and Parkinson’s diseases. A detailed understanding of the physico-chemical properties of the different aggregated forms of proteins, and of their interactions with other compounds of diagnostic or therapeutic interest, is crucial for devising effective strategies against such diseases. Protein aggregates are situated at the boundary between soluble and insoluble structures, and are challenging to study because classical biophysical techniques, such as scattering, spectroscopic and calorimetric methods, are not well adapted for their study. Here we present a detailed characterization of the thermophoretic behavior of different forms of the protein α-synuclein, whose aggregation is associated with Parkinson’s disease. Thermophoresis is the directed net diffusional flux of molecules and colloidal particles in a temperature gradient. Because of their low volume requirements and rapidity, analytical methods based on this effect have considerable potential for high throughput screening for drug discovery. In this paper we rationalize and describe in quantitative terms the thermophoretic behavior of monomeric, oligomeric and fibrillar forms of α-synuclein. Furthermore, we demonstrate that microscale thermophoresis (MST) is a valuable method for screening for ligands and binding partners of even such highly challenging samples as supramolecular protein aggregates. PMID:26984748

  14. A Polysomnographic Study of Parkinson's Disease Sleep Architecture

    PubMed Central

    Martinez-Ramirez, Daniel; De Jesus, Sol; Walz, Roger; Cervantes-Arriaga, Amin; Peng-Chen, Zhongxing; Okun, Michael S.; Alatriste-Booth, Vanessa; Rodríguez-Violante, Mayela

    2015-01-01

    Sleep disturbance is a common nonmotor phenomenon in Parkinson's disease (PD) affecting patient's quality of life. In this study, we examined the association between clinical characteristics with sleep disorders and sleep architecture patterns in a PD cohort. Patients underwent a standardized polysomnography study (PSG) in their “on medication” state. We observed that male gender and disease duration were independently associated with obstructive sleep apnea (OSA). Only lower levodopa equivalent dose (LED) was associated with periodic limb movement disorders (PLMD). REM sleep behavior disorder (RBD) was more common among older patients, with higher MDS-UPDRS III scores, and LED. None of the investigated variables were associated with the awakenings/arousals (A/A). Sleep efficiency was predicted by amantadine usage and age, while sleep stage 1 was predicted by dopamine agonists and Hoehn & Yahr severity. The use of MAO-B inhibitors and MDS-UPDRS part III were predictors of sleep stages 2 and 3. Age was the only predictor of REM sleep stage and gender for total sleep time. We conclude that sleep disorders and architecture are poorly predictable by clinical PD characteristics and other disease related factors must also be contributing to these sleep disturbances. PMID:26504612

  15. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases.

    PubMed

    Lee, Wen-Chung

    2016-06-09

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use.

  16. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases

    PubMed Central

    Lee, Wen-Chung

    2016-01-01

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use. PMID:27278756

  17. Clinical studies with ropinirole in Parkinson's disease and RLS.

    PubMed

    Jost, Wolfgang H; Angersbach, Dieter; Rascol, Olivier

    2006-08-01

    Ropinirole is a modern dopamine agonist with a half-life of medium extent that is highly selective for D(2)-receptors. Ropinirole is an indole derivative and thus does not belong to the group of ergoline dopamine receptor agonists. Its effect has been proved in a number of controlled studies in both monotherapy and combination treatments of Parkinson's disease. We can meanwhile refer to the long-term data of studies that have been run for more than 10 years. The substance has also been approved for the management of restless legs syndrome. A long-acting formula of the substance will be available soon.

  18. Communicable disease epidemiology following migration: studies from the African famine.

    PubMed

    Shears, P; Lusty, T

    1987-01-01

    Few epidemiological studies have been undertaken of morbidity and mortality due to communicable disease in mass migration. This article reviews data from refugee displacement areas in north-east Africa. Risk factors to increase morbidity and mortality include 1) breakdown of health services, 2) movement to new ecological zones, 3) malnutrition, and 4) crowding and poor sanitation in relief camps. Highest mortalities are recorded in children under 5 years old, principal causes being measles, gastro-enteritis, chest infections, and malaria. The greatest morbidity and mortality occurs after arrival in relief camps, and could be reduced by epidemiologically based, selective health programs. This article stresses the importance of regional level coordination between relief agencies and the need for an effective disease surveillance system.

  19. Motor Neuron Diseases Accompanying Spinal Stenosis: A Case Study.

    PubMed

    Shin, HyeonJu; Park, Sun Kyung; HaeJin, Suh; Choi, Yun Suk

    2016-03-01

    A 75-year-old man, who was healthy, visited the hospital because of shooting pain and numbness in both lower limbs (right > left). The patient had an L4/5 moderate right foraminal stenosis and right subarticular disc protrusion and received a lumbar epidural block. The patient experienced severe weakness in the right lower limb after 2 days. Lumbar and cervical magnetic resonance images were taken and electromyography and a nerve conduction study were performed to arrive at the diagnosis of a motor neuron disease. The patient expired 4 months later with respiratory failure due to motor neuron disease. This case suggests that any abnormal neurological symptoms that occur after an epidural block should be examined thoroughly via testing and consultations to identify the cause of the symptoms.

  20. Bone sarcomas in Paget disease: a study of 85 patients

    SciTech Connect

    Smith, J.; Botet, J.F.; Yeh, S.D.J.

    1984-09-01

    This is a comprehensive review of 85 patients who had bone sarcoma associated with Paget disease and who were seen at Memorial Sloan-Kettering Cancer Center between 1927 and 1982. There was an almost equal distribution of tumors in the axial and the appendicular skeletons. The pelvis, humerus, femur, and skull were the tumor sites in 80% of cases. The tumors were bulky large soft tissue masses. Lytic lesions were more common than sclerotic lesions. Methylene diphosphonate scans of the bone often showed a cold area that was associated with marked increase in uptake on the gallium scan. Angiography, which was performed in 13 patients, was useful, but CT was much more helpful in showing the soft tissue mass as well as the extent of bony disease. Only three patients in this study survived for five years.

  1. Cholesterol, lipoproteins and subclinical interstitial lung disease: the MESA study.

    PubMed

    Podolanczuk, Anna J; Raghu, Ganesh; Tsai, Michael Y; Kawut, Steven M; Peterson, Eric; Sonti, Rajiv; Rabinowitz, Daniel; Johnson, Craig; Barr, R Graham; Hinckley Stukovsky, Karen; Hoffman, Eric A; Carr, J Jeffrey; Ahmed, Firas S; Jacobs, David R; Watson, Karol; Shea, Steven J; Lederer, David J

    2017-01-27

    We investigated associations of plasma lipoproteins with subclinical interstitial lung disease (ILD) by measuring high attenuation areas (HAA: lung voxels between -600 and -250 Hounsfield units) in 6700 adults and serum MMP-7 and SP-A in 1216 adults age 45-84 without clinical cardiovascular disease in Multi-Ethnic Study of Atherosclerosis. In cross-sectional analyses, each SD decrement in high density lipoprotein cholesterol (HDL-C) was associated with a 2.12% HAA increment (95% CI 1.44% to 2.79%), a 3.53% MMP-7 increment (95% CI 0.93% to 6.07%) and a 6.37% SP-A increment (95% CI 1.35% to 11.13%), independent of demographics, smoking and inflammatory biomarkers. These findings support a novel hypothesis that HDL-C might influence subclinical lung injury and extracellular matrix remodelling.

  2. Zebrafish as a model system to study heritable skin diseases.

    PubMed

    Li, Qiaoli; Uitto, Jouni

    2013-01-01

    Heritable skin diseases represent a broad spectrum of clinical manifestations due to mutations in ∼500 different genes. A number of model systems have been developed to advance our understanding of the pathomechanisms of genodermatoses. Zebrafish (Danio rerio), a freshwater vertebrate, has a well-characterized genome, the expression of which can be easily manipulated. The larvae develop rapidly, with all major organs having largely developed by 5-6 days post-fertilization, including the skin which consists at that stage of the epidermis comprising two cell layers and separated from the dermal collagenous matrix by a basement membrane zone. Here, we describe the use of morpholino-based antisense oligonucleotides to knockdown the expression of specific genes in zebrafish and to examine the consequent knockdown efficiency and skin phenotypes. Zebrafish can provide a useful model system to study heritable skin diseases.

  3. 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

  4. Cohort profile: the Finnish Medication and Alzheimer's disease (MEDALZ) study

    PubMed Central

    Tolppanen, Anna-Maija; Taipale, Heidi; Koponen, Marjaana; Lavikainen, Piia; Tanskanen, Antti; Tiihonen, Jari; Hartikainen, Sirpa

    2016-01-01

    Purpose The aim of the Medicine use and Alzheimer's disease (MEDALZ) study is to investigate the changes in medication and healthcare service use among persons with Alzheimer's disease (AD) and to evaluate the safety and effectiveness of medications in this group. This is important, because the number of persons with AD is rapidly growing and even though they are a particularly vulnerable patient group, the number of representative, large-scale studies with adequate follow-up time is limited. Participants MEDALZ contains all residents of Finland who received a clinically verified diagnosis of AD between 2005 and 2011 and were community-dwelling at the time of diagnosis (N=70 719). The diagnosis is based on the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (NINCS-ADRDA) and Diagnostic and Statistical Manual Fourth Edition (DSM-IV) criteria for Alzheimer's disease. The cohort contains socioeconomic data (education, occupational status and taxable income, 1972–2012) and causes of death (2005–2012), data from the prescription register (1995–2012), the special reimbursement register (1972–2012) and the hospital discharge register (1972–2012). Future updates are planned. The average age was 80.1 years (range 34.5–104.6 years). The majority of cohort (65.2%) was women. Currently, the average length of follow-up after AD diagnosis is 3.1 years and altogether 26 045 (36.8%) persons have died during the follow-up. Findings Altogether 53% of the cohort had used psychotropic drugs within 1 year after AD diagnoses. The initiation rate of for example, benzodiazepines and related drugs and antidepressants began to increase already before AD diagnosis. Future plans We are currently assessing if these, and other commonly used medications are related to adverse events such as death, hip fractures, head injuries and pneumonia. PMID:27412109

  5. 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

  6. Sacrococcygeal pilonidal disease: sinotomy versus excisional surgery, a retrospective study.

    PubMed

    Rabie, M Ezzedien; Al Refeidi, Abdullah A; Al Haizaee, Abdullah; Hilal, Saleh; Al Ajmi, Hassan; Al Amri, Abdul Aziz

    2007-03-01

    Pilonidal disease is a disease of relatively young people, the exact aetiology of which is unknown. Treatment options vary from simple incision to complex flap procedures. Each method has its advocates and they all have a variable recurrence rate. The multiplicity of procedures testifies to the lack of an optimal treatment method. The objective of this study is to compare sinotomy, that is, simply laying the sinus open with the more popular radical surgery, where the sinus-bearing tissues are excised. Patients who were admitted to Aseer Central Hospital, Saudi Arabia with a pilonidal sinus or abscess, in the period from April 1999 to January 2005, were identified. The medical records were reviewed and data related to the patient characteristics, disease process and the procedures carried out were noted. Identified patients were contacted by phone to check recurrence of the disease and their abidance to instructions regarding regular hair removal from the area. Eighty-one patients were included in the study. The median age was 24.2 years (range 16-60 years). There were 9 women and 72 men. All procedures were carried out under general anaesthesia except sinotomy, which was carried out under general or local anaesthesia. The surgical procedure was incision and drainage of abscess in 16 cases (19.8%), excision with primary closure in 29 cases (35.8%), excision by the open method in 15 cases (18.5%), sinotomy in 14 cases (17.3%) and rhomboid flap construction in 8 cases (9.9%). The overall recurrence rate was 26.9%, and the mean hospital stay was 4.1 days. Sinotomy had a low recurrence rate (12.5%) and a short hospital stay (2.8 days). Sinotomy has the advantages of simplicity, the possibility of operating under local anaesthesia, with an acceptable recurrence rate. We recommend sinotomy for pilonidal sinus and abscess alike, both in primary and recurrent cases.

  7. Post hoc Parkinson's disease: identifying an uncommon disease in the Cardiovascular Health Study.

    PubMed

    Ton, T G; Jain, S; Boudreau, R; Thacker, E L; Strotmeyer, E S; Newman, A B; Longstreth, W T; Checkoway, H

    2010-01-01

    Although ongoing cohort studies offer a unique opportunity to apply existing information collected prospectively to further the scientific understanding of Parkinson's disease (PD), they typically have limited information for clinical diagnosis. We used combinations of self-report, International Classification of Diseases - 9th edition codes and antiparkinsonian medications to identify PD in the Cardiovascular Health Study. To determine whether the expected inverse association between smoking and PD is evident using our outcome definitions, we assessed baseline smoking characteristics for various definitions of PD. We identified 60 cases with prevalent PD (1.0%; 95% confidence interval, CI = 0.8-1.3%) and 154 with incident PD by year 14. Clear associations were observed for current smokers (odds ratio, OR = 0.50; 95% CI = 0.26-0.95) and for those who smoked ≥50 pack-years (OR = 0.53; 95% CI = 0.29-0.96). Estimates for smoking were similar when ≥2 data sources were required. Estimates for self-report alone were attenuated towards null. Using multiple data sources to identify PD represents an alternative method of outcome identification in a cohort that would otherwise not be possible for PD research. Ongoing cohort studies can provide settings in which rapid replication and explorations of new hypotheses for PD are possible. Copyright © 2010 S. Karger AG, Basel.

  8. 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.

  9. 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.

  10. 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 factor in the

  11. Global economic consequences of selected surgical diseases: a modelling study.

    PubMed

    Alkire, Blake C; Shrime, Mark G; Dare, Anna J; Vincent, Jeffrey R; Meara, John G

    2015-04-27

    The surgical burden of disease is substantial, but little is known about the associated economic consequences. We estimate the global macroeconomic impact of the surgical burden of disease due to injury, neoplasm, digestive diseases, and maternal and neonatal disorders from two distinct economic perspectives. We obtained mortality rate estimates for each disease for the years 2000 and 2010 from the Institute of Health Metrics and Evaluation Global Burden of Disease 2010 study, and estimates of the proportion of the burden of the selected diseases that is surgical from a paper by Shrime and colleagues. We first used the value of lost output (VLO) approach, based on the WHO's Projecting the Economic Cost of Ill-Health (EPIC) model, to project annual market economy losses due to these surgical diseases during 2015-30. EPIC attempts to model how disease affects a country's projected labour force and capital stock, which in turn are related to losses in economic output, or gross domestic product (GDP). We then used the value of lost welfare (VLW) approach, which is conceptually based on the value of a statistical life and is inclusive of non-market losses, to estimate the present value of long-run welfare losses resulting from mortality and short-run welfare losses resulting from morbidity incurred during 2010. Sensitivity analyses were performed for both approaches. During 2015-30, the VLO approach projected that surgical conditions would result in losses of 1·25% of potential GDP, or $20·7 trillion (2010 US$, purchasing power parity) in the 128 countries with data available. When expressed as a proportion of potential GDP, annual GDP losses were greatest in low-income and middle-income countries, with up to a 2·5% loss in output by 2030. When total welfare losses are assessed (VLW), the present value of economic losses is estimated to be equivalent to 17% of 2010 GDP, or $14·5 trillion in the 175 countries assessed with this approach. Neoplasm and injury account

  12. Noncommunicable disease in rural India: Are we seriously underestimating the risk? The Nallampatti noncommunicable disease study

    PubMed Central

    Swaminathan, Krishnan; Veerasekar, Ganesh; Kuppusamy, Sujatha; Sundaresan, Mohanraj; Velmurugan, Ganesan; Palaniswami, Nalla G.

    2017-01-01

    Aim: To assess the prevalence of noncommunicable diseases in a true rural farming population in South India and compare the data with the landmark contemporary Indian Council of Medical Research-India Diabetes (ICMR-INDIAB) study. Methods: Local Ethics Committee approval and informed consent was obtained from all participants. Inclusion criteria were participants, aged ≥20 and ≤85 years, from Nallampatti, a classical farming village from Tamil Nadu state, India. All participants were administered a detailed questionnaire, had anthropometric measurements including height, weight, and waist circumference. Bloods were drawn for random blood glucose, glycated hemoglobin (HbA1c), nonfasting lipid profile, Cystatin C, uric acid, and hemoglobin. All participants had carotid intima-media thickness (CIMT) done by high-resolution B-mode carotid ultrasound. Results: More than 50% of the population had either diabetes or prediabetes based on HbA1c. Nearly, 40% of the population had hypertension with suboptimal control in those with known hypertension. Nearly, a third of the population had dyslipidemia, elevated cystatin C levels, and abnormal CIMT. The burden was higher than the comparable ICMR-INDIAB study in rural Tamil Nadu. Conclusion: One-third to one-half of this rural farming population is at risk of cardiovascular disease, with poor control of preexisting cardiovascular risk factors. Current Indian data may underestimate the risk in different ethnic populations and regions of India. Long-term follow-up of this cohort for the incident cardiovascular disease will shed light on the true cardiovascular risk in a typical South Indian rural farming population. PMID:28217505

  13. Insects as models to study the epigenetic basis of disease.

    PubMed

    Mukherjee, Krishnendu; Twyman, Richard M; Vilcinskas, Andreas

    2015-07-01

    Epigenetic inheritance refers to changes in gene expression that are heritable across generations but are not caused by changes in the DNA sequence. Many environmental factors are now known to cause epigenetic changes, including the presence of pathogens, parasites, harmful chemicals and other stress factors. There is increasing evidence that transcriptional reprogramming caused by epigenetic modifications can be passed from parents to offspring. Indeed, diseases such as cancer can occur in the offspring due to epigenetically-inherited gene expression profiles induced by stress experienced by the parent. Empirical studies to investigate the role of epigenetics in trans-generational gene regulation and disease require appropriate model organisms. In this review, we argue that selected insects can be used as models for human diseases with an epigenetic component because the underlying molecular mechanisms (DNA methylation, histone acetylation and the expression of microRNAs) are evolutionarily conserved. Insects offer a number of advantages over mammalian models including ethical acceptability, short generation times and the potential to investigate complex interacting parameters such as fecundity, longevity, gender ratio, and resistance to pathogens, parasites and environmental stress.

  14. [Hydroxyapatite rheumatism (multiple tendon calcification disease). I.- Clinical study].

    PubMed

    Amor, B; Cherot, A; Delbarre, F

    1977-05-01

    A study was made of 45 patients suffering from hydroxyapatite rheumatism (multiple tendon calcifications disease). There were 36 women and 9 men aged between 15 and 61 years with an average age of 14. The following joints were involved (the first figure refers to clinical affection, that between brackets to radiologically demonstrable calcifications): shoulder 34 (36); neck 14 (15); wrist 18 (11); fingers 19 (17); hip 11 (29); knee 14 (18); ankle 10 (14); foot 5 (6); spinal column 16 (24). In 30 patients the disease manifested itself in the form of acute recurrent migratory arthritis resembling gout. In 8 cases, it developed in the form of acute recurrent migratory arthritis resembling gout. In 8 cases, it developed in the form of acute polyarthritis and in 7 as rheumatoid arthritis without radiological lesions. Thirty-two patients could be followed up. Four of them were cured, 9 showed improvement but still suffered attacks of pain. Eighteen patients were not improved, their pains growing more chronic. Four patients had a family history of multiple tendon calcifications disease.

  15. A qualitative study of infectious diseases fellowships in Japan.

    PubMed

    Iwata, Kentaro; Doi, Asako

    2016-02-21

    The purpose of this research is to elucidate the actual status of Infectious Diseases (ID) Fellowship programs in Japan to improve them further. We conducted qualitative interviews with infectious diseases fellows and his/her faculty consultants from 10 institutions providing ID Fellowships in Japan. We qualitatively analysed the data to delineate the actual status of each program and the fellowship program policies overall, and to identify measures for further improvement. The interviews revealed that there are largely two kinds of ID fellowships; ID programs entirely devoting full time to infectious diseases, and programs that are subordinate concepts of other subspecialties, where only a portion of hours were devoted to ID. Some institutions did not even have an ID department. Time spent by the faculty consultants on fellows also varied among programs. The desire for improvement also varied among interviewees; some being happy with the current system while others demanded radical reform. Even though there are many ID fellowship programs in Japan, the content, quality, and concepts apparently vary among programs. The perceptions by interviewees on the educational system differed, depending on the standpoints they have on ID physicians. There probably needs to be a coherency in the provision of ID fellowship programs so that fellows acquire competency in the subspecialty with sufficient expertise to act as independent ID specialists. Further studies are necessary for the improvement of ID subspecialty training in Japan.

  16. Moyamoya syndrome associated with Graves’ disease: a case series study

    PubMed Central

    Zhou, Li-Xin; Wei, Yan-Ping; Li, Ming-Li; Xu, Wei-Hai; Gao, Shan; Cui, Li-Ying

    2014-01-01

    Objective The aim of this study was to describe the clinical and radiological findings of patients with moyamoya syndrome and Graves’ disease. Possible mechanisms predisposing these individuals to ischemic stroke are discussed. Methods We retrospectively analyzed 12 consecutive patients with both moyamoya syndrome and Graves’ disease. Moyamoya vasculopathy was diagnosed by digital subtract angiography or magnetic resonance angiography (MRA). The clinical characteristics, laboratory data, vascular radiological characteristics and outcome were reported. Results All patients were female and mean age was 33.33±12.65 years. Stenosis or occlusion of bilateral terminal internal carotid artery and/or proximal anterior/middle cerebral arteries was found in nine patients. Among them, three patients displayed asymmetrical stenosis. In addition, there were three patients with probable unilateral moamoya syndrome. Eleven patients presented with ischemic stroke and/or transient ischemic attack (TIA) and one with dizziness. Thyroid function tests demonstrated elevated thyroid hormone levels and suppressed thyroid stimulating hormone levels in all the patients with ischemic events. All patients received anti-thyroid therapy and two had recurrent ischemic attack after drug withdrawal. Conclusions Moyamoya syndrome associated Graves’ disease often presented with asymmetric stenosis or occlusion. We hypothesize cerebrovascular hemodynamic changes due to thyrotoxicosis contribute to the ischemic events. PMID:25333052

  17. A qualitative study of infectious diseases fellowships in Japan

    PubMed Central

    Doi, Asako

    2016-01-01

    Objectives The purpose of this research is to elucidate the actual status of Infectious Diseases (ID) Fellowship programs in Japan to improve them further. Methods We conducted qualitative interviews with infectious diseases fellows and his/her faculty consultants from 10 institutions providing ID Fellowships in Japan. We qualitatively analysed the data to delineate the actual status of each program and the fellowship program policies overall, and to identify measures for further improvement. Results The interviews revealed that there are largely two kinds of ID fellowships; ID programs entirely devoting full time to infectious diseases, and programs that are subordinate concepts of other subspecialties, where only a portion of hours were devoted to ID. Some institutions did not even have an ID department. Time spent by the faculty consultants on fellows also varied among programs. The desire for improvement also varied among interviewees; some being happy with the current system while others demanded radical reform. Conclusions Even though there are many ID fellowship programs in Japan, the content, quality, and concepts apparently vary among programs. The perceptions by interviewees on the educational system differed, depending on the standpoints they have on ID physicians. There probably needs to be a coherency in the provision of ID fellowship programs so that fellows acquire competency in the subspecialty with sufficient expertise to act as independent ID specialists. Further studies are necessary for the improvement of ID subspecialty training in Japan.  PMID:26896873

  18. Celiac disease without villous atrophy in children: a prospective study.

    PubMed

    Kurppa, Kalle; Ashorn, Merja; Iltanen, Sari; Koskinen, Lotta L E; Saavalainen, Päivi; Koskinen, Outi; Mäki, Markku; Kaukinen, Katri

    2010-09-01

    To establish whether children who are endomysial antibody (EmA) positive and have normal small-bowel mucosal villous morphology are truly gluten-sensitive and may benefit from early treatment with a gluten-free diet. Children who were EmA positive with normal small-bowel mucosal villi were compared with children who were seropositive with villous atrophy by using several markers of untreated celiac disease. Thereafter, children with normal villous structure either continued on a normal diet or were placed on a gluten-free diet and re-investigated after 1 year. Seventeen children who were seronegative served as control subjects for baseline investigations. Normal villous morphology was noted in 17 children who were EmA positive, and villous atrophy was noted in 42 children who were EmA positive. These children were comparable in all measured variables regardless of the degree of enteropathy, but differed significantly from the seronegative control subjects. During the dietary intervention, in children who were EmA positive with normal villi, the disease was exacerbated in children who continued gluten consumption, whereas in all children who started the gluten-free diet, both the gastrointestinal symptoms and abnormal antibodies disappeared. The study provided evidence that children who are EmA positive have a celiac-type disorder and benefit from early treatment despite normal mucosal structure, indicating that the diagnostic criteria for celiac disease should be re-evaluated. Copyright (c) 2010 Mosby, Inc. All rights reserved.

  19. Histopathological study on myocardial hypertrophy associated with ischemic heart disease.

    PubMed

    Ishijima, M

    1990-06-01

    The mode and causes of myocardial hypertrophy occurring in association with ischemic heart disease were studied. The investigation involved autopsied hearts (15 cases of subendocardial infarction, 27 of transmural infarction, 20 of non-infarcted three vessel disease and 17 controls) and biopsied materials obtained during coronary-aorta bypass graft surgery (23 patients with angina pectoris and 46 with myocardial infarction). The subendocardial infarction group showed most marked myocardial hypertrophy that reflected extensive infarction and fibrosis, dilatation of the left ventricular cavity and the loss of myocytes. Despite a marked decrease in the number of myocyte layers, the residual myocardium of the left ventricle was uniformly hypertrophic, accompanied by an increase in the heart weight. The larger the area of fibrosis, the more marked was myocardial hypertrophy irrespective of the luminal diameter of the responsible coronary artery. These findings indicate that myocardial hypertrophy associated with ischemic heart disease is enhanced by the compensatory mechanisms for a decrease in the contractile myocardium due to fibrosis.

  20. [Morquio A disease: clinical and molecular study of Tunisian patients].

    PubMed

    Khedhiri, Souhir; Chkioua, Latifa; Ferchichi, Salima; Miled, Abdelhedi; Laradi, Sandrine

    2011-01-01

    Type IVA mucopolysaccharidosis or Morquio A disease is a lysosomal storage disease, autosomal recessive, caused by deficiency of the N-acetylgalactosamine-6-sulfate sulfatase or GALNS. The severe phenotype is characterized by a severe skeletal dysplasia without any mental retardation. The aim of this study was to propose a strategy of molecular and prenatal diagnosis of this pathology. A molecular study was carried out on 7 patients MPS IVA issued from 5 unrelated families recruited from different Tunisian regions. All the patients were offspring of consanguineous marriages. The clinical and biologic study confirmed the diagnosis of MPS IVA within the 7 studied patients. Three GALNS mutations were identified by molecular analysis: IVS1+1G>A, G66R and A85T. The unions between Tunisian relatives are important and increase the Morquio A incidence in Tunisia. The identification of GALNS mutations in the Tunisian population permits better understanding of the Morquio A phenotype, a reliable genetic counselling and a molecular prenatal diagnosis to Tunisian at-risk relatives.

  1. Working on asymmetry in Parkinson's disease: randomized, controlled pilot study.

    PubMed

    Ricciardi, Lucia; Ricciardi, Diego; Lena, Francesco; Plotnik, Meir; Petracca, Martina; Barricella, Simona; Bentivoglio, Anna Rita; Modugno, Nicola; Bernabei, Roberto; Fasano, Alfonso

    2015-08-01

    Posture, gait and balance problems are very disabling symptoms in Parkinson's disease (PD). An increased stride-to-stri de variability, reduction of automaticity and asymmetry of lower limbs function characterize parkinsonian gait. These features predispose to freezing of gait (FOG), which often leads to falls. The aim of this study was to evaluate how the modulation of asymmetry through physiotherapy might improve gait and reduce FOG, thus preventing falls. Twenty-eight PD patients entered a double-blind pilot feasibility controlled study and were evaluated at baseline and after 3 months of a rehabilitative program (performed twice a week) by means of the motor part of the Unified Parkinson's Disease Rating Scale (UPDRS-III), Gait and Falls Questionnaire, Tinetti balance and gait scale, Short Physical Performance Battery (SPPB), European Quality of Life questionnaire. Patients were randomly assigned to three treatment arms: (1) worst side improvement; (2) best side improvement; (3) standard therapy. All study arms showed a significant improvement of the Tinetti and SPPB scores. BSI led to a greater improvement than ST in terms of UPDRS-III (p = 0.01); Tinetti total score (p = 0.05) and Tinetti gait subscore (p = 0.01). Our study confirms the efficacy of physical therapy in the treatment of PD and, more importantly, suggests that specific intervention tailored on individual feature (e.g., asymmetry of motor condition) might be even more effective than standard rehabilitative programs.

  2. Modeling diseases in multiple mouse strains for precision medicine studies.

    PubMed

    Klein, Andrés D

    2017-03-01

    The genetic basis of the phenotypic variability observed in patients can be studied in mice by generating disease models through genetic or chemical interventions in many genetic backgrounds where the clinical phenotypes can be assessed and used for genome-wide association studies (GWAS). This is particularly relevant for rare disorders, where patients sharing identical mutations can present with a wide variety of symptoms, but there are not enough number of patients to ensure statistical power of GWAS. Inbred strains are homozygous for each loci, and their single nucleotide polymorphisms catalogs are known and freely available, facilitating the bioinformatics and reducing the costs of the study, since it is not required to genotype every mouse. This kind of approach can be applied to pharmacogenomics studies as well.

  3. Using Genomics to Study Human Biology and Disease

    SciTech Connect

    Myers, Ricard M.

    2005-04-06

    The Human Genome Project culminated in April 2003 with the finished DNA sequence of all of the human chromosomes. This book of information, particularly in conjunction with the genome sequences of many other organisms, has already begun to revolutionize the way that biomedical scientists study our species. The identification of essentially all of our genes has provided a template upon which researchers can discover basic processes that govern cells, organs, and the whole organism, and to understand the fundamental causes of the diseases that occur when something goes wrong with a gene or a set of genes. The Genome Project has already made it possible to identify the genes that are defective in more than 1,000 rare inherited diseases, and these discoveries have helped to understand the mechanisms of the more common forms of these disorders. This understanding of primary defects in diseases - which is translated as mutations in genes that encode proteins that serve specific functions - is transforming the way that biotechnology and pharmaceutical companies identify drug targets, and a few notable cases have already had a striking impact on specific diseases. In addition, it has become clear that the differential response to drugs in human populations is heavily influenced by genes, and a whole field called pharmacogenetics has begun to identify these genetic factors. Such knowledge will allow physicians to prescribe drugs targeted to each individual, with the potential to increase efficacy and decrease side-effects. Determining the DNA sequence of the human genome and identifying the genes has been an exciting endeavor, but we are only just beginning to understand the treasures present in all of our DNA. My presentation will briefly describe the road we took to get the sequence, as well as the tools that we are developing to unlock its secrets.

  4. Diarrheal diseases of infancy in Cali, Colombia: study design and summary report on isolated disease agents.

    PubMed

    Newell, K W; Dover, A S; Clemmer, D I; D'Alessandro, A; Duenas, A; Gracián, M; LeBlanc, D R

    1976-01-01

    For public health reasons, it is important that the etiologic agents of early childhood diarrhea be isolated and identified, and that their routes of transmission be defined. This is especially true in tropical and subtropical developing countries, where childhood patterns of exposure to diarrheal disease agents usually differ from those in developed countries, and where diarrheal illness is a frequent harbinger of death among children under five years of age. This artical describes a study designed to identify diarrheal disease agents and transmission patterns in Cali, a large city of western Colombia's fertile Cauca River Valley. The study area, composed of five working-class districts with a total population of some 40,000, appeared to provide an environment fairly similar to those of many other "average" working-class communities in Latin America. Beginning in July 1962, a cohort of 296 children being born in these districts was studied, the period of investigation starting with the date of birth and continuing until each child's second birthday or its premature withdrawal from the study. Weekly home visits were made to establish defecation patterns, feeding practices, and anthropometry. The resulting data were then analyzed in terms of defecation frequencies, occurrence of liquid stools, and the presence of blood, mucus, or pus in the stools. Differences were noted in male and female defecation patterns and in the defecation frequencies of different age groups. Stool specimens for bacteriologic, virologic, and parasitologic examination were collected monthly on a regular basis and weekly when diarrhea occurred. Numerically, viruses were isolated and identified more often than other agents. The most commonly isolated parasite species and viral and bacterial serotypes were G. lamblia (from 222 subjects), echovirus 11 (from 166 subjects), and enteropathogenic Escherichia coli 026:B6 (from 138 subjects). Compared with the findings of several studies in other

  5. The association of autoimmune thyroid disease (AITD) with psoriatic disease: a prospective cohort study, systematic review and meta-analysis.

    PubMed

    Khan, Samer R; Bano, Arjola; Wakkee, Marlies; Korevaar, Tim I M; Franco, Oscar H; Nijsten, Tamar E C; Peeters, Robin P; Chaker, Layal

    2017-10-01

    Autoimmune thyroid disease (AITD) and psoriatic disease share auto-immunological components. Few studies have investigated the link between both, yielding inconclusive results. We assessed the association of AITD with psoriatic disease in a prospective cohort study and performed a systematic review and meta-analysis. 8214 participants of the Rotterdam Study (RS) with thyroid peroxidase antibodies (TPO-Abs), thyroid-stimulating hormone (TSH) and/or free thyroxine (FT4) measurements and information on psoriatic disease were included. We performed logistic and Cox regression analyses and a systematic literature search in several electronic databases on AITD and psoriatic disease. We pooled odds ratios (ORs) of included studies using the Mantel-Haenszel method, while adding RS data on prevalent psoriatic disease. Within the RS, we found no association between TPO-Ab positivity and psoriatic disease. There was a positive trend between TSH and prevalent psoriatic disease, and between FT4 and incident psoriatic disease, although not significant. Out of 1850 articles identified, seven were included in the systematic review and four in the meta-analysis. The risk of psoriatic disease (pooled OR) was 1.71 (confidence interval (CI): 1.27-2.31) for TPO-Ab positivity, 1.25 (CI: 1.14-1.37) for AITD and 1.34 (CI: 1.16-1.54) respectively, and 1.17 (CI: 1.03-1.32) for hypothyroidism and hyperthyroidism. Our meta-analysis suggests that TPO-Ab positivity, hypothyroidism and hyperthyroidism might be associated with prevalent psoriatic disease. However, there are only few studies with large heterogeneity regarding psoriatic disease definition and indication of publication bias. Additional prospective data are needed to assess the association of AITD with incident psoriatic disease. © 2017 European Society of Endocrinology.

  6. Definition of nocturnal gastroesophageal reflux for studies on respiratory diseases.

    PubMed

    Emilsson, Össur Ingi; Benediktsdóttir, Bryndís; Ólafsson, Ísleifur; Cook, Elizabeth; Júlíusson, Sigurður; Berg, Sören; Nordang, Leif; Björnsson, Einar Stefán; Guðlaugsdóttir, Sunna; Guðmundsdóttir, Anna Soffía; Janson, Christer; Gislason, Thorarinn

    2016-01-01

    Nocturnal gastroesophageal reflux (nGER) has been associated with respiratory diseases. Our aim was to study a questionnaire method to identify nGER subjects with respiratory involvement in a general population. A subgroup of Icelandic participants in the European Community Respiratory Health Survey III (ECRHS III) reporting symptoms of nGER (n  =  48) as well as age and gender paired controls (n  =  42) were studied further by a structured interview, questionnaires, laryngeal fibrescopy, and exhaled breath condensate. A subgroup underwent 24-h oesophageal pH impedance (24-h MII-pH) measurements. Symptoms of nGER were assessed with a modified version of the reflux disease questionnaire (RDQ), where symptoms were divided into daytime and nocturnal. A report of nGER both at baseline and at follow-up was defined as persistent nGER. Participants reporting persistent nGER had significantly more signs of laryngopharyngeal reflux according to the reflux finding score than those without nGER (Mean ± SD: 5.1 ± 2.3 vs. 3.9 ± 2.2, p  =  0.02). Of the 16 persistent nGER subjects that underwent 24-h MII-pH, 11 had abnormal gastroesophageal reflux, but none of three control subjects (69% vs. 0%). Pepsin was more commonly found in exhaled breath condensate in the nGER group (67% vs. 45%, p  =  0.04). Participants with nGER symptoms at least once a month, reported on two occasions, had a high level of positive 24-h MII-pH measurements, laryngeal inflammation and pepsin in exhaled breath condensate. This nGER definition identified a representable group for studies on nGER and respiratory diseases in a general population.

  7. Identifying Complexity in Infectious Diseases Inpatient Settings: An Observation Study

    PubMed Central

    Roosan, Don; Weir, Charlene; Samore, Matthew; Jones, Makoto; Rahman, Mumtahena; Stoddard, Gregory J.; Del Fiol, Guilherme

    2017-01-01

    Background Understanding complexity in healthcare has the potential to reduce decision and treatment uncertainty. Therefore, identifying both patient and task complexity may offer better task allocation and design recommendation for next generation health information technology system design. Objective To identify the specific complexity-contributing factors in the infectious disease domain and the relationship with the complexity perceived by clinicians. Method We observed and audio recorded the clinical rounds of three infectious disease teams. Thirty cases were observed for a period of four consecutive days. Transcripts were coded based on the clinical complexity-contributing factors from the clinical complexity model. Ratings of complexity on day 1 for each case were collected. We then used statistical methods to identify complexity-contributing factors in relationship to perceived complexity of clinicians. Results A factor analysis (principal component extraction with varimax rotation) of specific items revealed three factors (eigenvalues>2.0) explaining 47% of total variance, namely task interaction and goals (10 items, 26%, Cronbach’s Alpha=0.87), urgency and acuity (6 items, 11%, Cronbach’s Alpha=0.67), and psychosocial behavior (4 items, 10%, Cronbach’s alpha=0.55). A linear regression analysis showed no statistically significant association between complexity perceived by the physicians and objective complexity, which was measured from coded transcript by three clinicians (Multiple R-squared=0.13, p=0.61). There were no physician effects on the rating of perceived complexity. Conclusion Task complexity contributes significantly to overall complexity in the infectious disease domain. The different complexity-contributing factors found in this study can guide health information technology system designers and researchers for intuitive design. Different types of decision support tools can help to reduce the specific complexity- contributing factors

  8. A clinical study of periodontal disease in sheep.

    PubMed

    Morris, P L; Whitley, B D; Orr, M B; Laws, A J

    1985-06-01

    Detailed examinations were made of the central permanent incisors and periodontia of 30 or 40 ewes on each of one control farm and three periodontal disease (P.D.) farms. The study confirmed that incisor crown lengthening, protrusion and loosening were significant features of P.D. Periodontitis (assessed by increased sulcus depth and bleeding after probing) about the lingual sulcus was a significant feature of P.D. Labial gingivitis and labial periodontitis were not significant features. A relatively long lower jaw did not appear to be a feature of P.D. 87.

  9. [Orphan diseases and orphan medicines: a Belgian and European study].

    PubMed

    Denis, Alain; Mergaert, Lut; Fostier, Christel; Cleemput, Irina; Simoens, Steven

    2009-12-01

    The objective of this study is to analyze policies concerning orphan medicines, used to treat patients suffering from a rare disease. The decisions about orphan designation and marketing authorization of orphan medicines are taken at European level, but each Member State is responsible for decisions regarding reimbursement. The European measures to encourage the development of orphan medicines, such as market exclusivity for a period of ten years, seem to be successful. However, this market exclusivity should be revised once the profitability of such medicines has clearly been demonstrated. Our study recommends the implementation of patient registries at the European level in order to describe the natural evolution of rare diseases and the efficacy of orphan medicines, the majority of which are relatively expensive. In 2008, Belgian social security services reimbursed orphan medicines for an amount of 66 million euro, accounting for more than 5% of the hospital pharmaceutical budget. The reimbursement of an orphan medicine to an individual patient is subject to multiple conditions. Our study recommends that a unique counter within the NIHDI is created which centralizes all reimbursement requests. The reimbursement of an orphan medicine must be linked to the provision of standardized information needed for a patient register. The NIHDI administration could then, in collaboration with external experts, evaluate reimbursement requests and ensure a coherent application of reimbursement criteria.

  10. APP mouse models for Alzheimer's disease preclinical studies.

    PubMed

    Sasaguri, Hiroki; Nilsson, Per; Hashimoto, Shoko; Nagata, Kenichi; Saito, Takashi; De Strooper, Bart; Hardy, John; Vassar, Robert; Winblad, Bengt; Saido, Takaomi C

    2017-09-01

    Animal models of human diseases that accurately recapitulate clinical pathology are indispensable for understanding molecular mechanisms and advancing preclinical studies. The Alzheimer's disease (AD) research community has historically used first-generation transgenic (Tg) mouse models that overexpress proteins linked to familial AD (FAD), mutant amyloid precursor protein (APP), or APP and presenilin (PS). These mice exhibit AD pathology, but the overexpression paradigm may cause additional phenotypes unrelated to AD Second-generation mouse models contain humanized sequences and clinical mutations in the endogenous mouse App gene. These mice show Aβ accumulation without phenotypes related to overexpression but are not yet a clinical recapitulation of human AD In this review, we evaluate different APP mouse models of AD, and review recent studies using the second-generation mice. We advise AD researchers to consider the comparative strengths and limitations of each model against the scientific and therapeutic goal of a prospective preclinical study. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

  11. The optimal template effect in hippocampus studies of diseased populations.

    PubMed

    Avants, Brian B; Yushkevich, Paul; Pluta, John; Minkoff, David; Korczykowski, Marc; Detre, John; Gee, James C

    2010-02-01

    We evaluate the impact of template choice on template-based segmentation of the hippocampus in epilepsy. Four dataset-specific strategies are quantitatively contrasted: the "closest to average" individual template, the average shape version of the closest to average template, a best appearance template and the best appearance and shape template proposed here and implemented in the open source toolkit Advanced Normalization Tools (ANTS). The cross-correlation similarity metric drives the correspondence model and is used consistently to determine the optimal appearance. Minimum shape distance in the diffeomorphic space determines optimal shape. Our evaluation results show that, with respect to gold-standard manual labeling of hippocampi in epilepsy, optimal shape and appearance template construction outperforms the other strategies for gaining data-derived templates. Our results also show the improvement is most significant on the diseased side and insignificant on the healthy side. Thus, the importance of the template increases when used to study pathology and may be less critical for normal control studies. Furthermore, explicit geometric optimization of the shape component of the unbiased template positively impacts the study of diseased hippocampi. Copyright (c) 2009 Elsevier Inc. All rights reserved.

  12. Network properties of complex human disease genes identified through genome-wide association studies.

    PubMed

    Barrenas, Fredrik; Chavali, Sreenivas; Holme, Petter; Mobini, Reza; Benson, Mikael

    2009-11-30

    Previous studies of network properties of human disease genes have mainly focused on monogenic diseases or cancers and have suffered from discovery bias. Here we investigated the network properties of complex disease genes identified by genome-wide association studies (GWAs), thereby eliminating discovery bias. We derived a network of complex diseases (n = 54) and complex disease genes (n = 349) to explore the shared genetic architecture of complex diseases. We evaluated the centrality measures of complex disease genes in comparison with essential and monogenic disease genes in the human interactome. The complex disease network showed that diseases belonging to the same disease class do not always share common disease genes. A possible explanation could be that the variants with higher minor allele frequency and larger effect size identified using GWAs constitute disjoint parts of the allelic spectra of similar complex diseases. The complex disease gene network showed high modularity with the size of the largest component being smaller than expected from a randomized null-model. This is consistent with limited sharing of genes between diseases. Complex disease genes are less central than the essential and monogenic disease genes in the human interactome. Genes associated with the same disease, compared to genes associated with different diseases, more often tend to share a protein-protein interaction and a Gene Ontology Biological Process. This indicates that network neighbors of known disease genes form an important class of candidates for identifying novel genes for the same disease.

  13. Smoking and Parkinson's disease: systematic review of prospective studies.

    PubMed

    Allam, Mohamed Farouk; Campbell, Michael J; Hofman, Albert; Del Castillo, Amparo Serrano; Fernández-Crehuet Navajas, Rafael

    2004-06-01

    We estimated the pooled risk of tobacco smoking for Parkinson's disease (PD). Inclusion criteria included systematic searches of MedLine, PsycLIT, Embase, Current Contents, previously published reviews, examination of cited reference sources, and personal contact and discussion with several investigators expert in the field. Published prospective studies on PD and cigarette smoking. When two or more studies were based on an identical study, the study that principally investigated the relationship or the study that was published last was used. Seven prospective studies were carried out between 1959 and 1997, of which six reported risk estimates. Four cohorts were based on standardised mortality rates, which were exclusively of male. Only one study included risk estimates for both males and females separately. The risk of ever smoker was 0.51 (95% confidence interval, 0.43 to 0.61). There was an obvious protective effect of current smoking in the pooled estimate (relative risk, 0.35; 95% CI, 0.26-0.47). Former smokers had lower risk compared with never smokers (relative risk, 0.66; 95% CI, 0.49-0.88). Although our pooled estimates show that smoking is inversely associated with the risk of PD, the four prospective studies that were based on follow-up of mortality of smokers had many limitations. Further studies evaluating the association between smoking and PD in women are strongly needed.

  14. [Longitudinal studies in the prevention of cardiovascular diseases].

    PubMed

    Balaguer Vintró, Ignacio

    2004-01-01

    Longitudinal studies of well defined cohorts have contributed to the identification of risk factors of coronary heart disease and other clinical complications of atherosclerosis. After commenting on the conclusions of experimental atherosclerosis and risk factors suggested by the study of a series of myocardial infarction in young adults and their matched controls, we discuss the methodology, management and results of longitudinal studies carried out in the United States since 1949: Twin Cities, Framingham, Pooling Project, Western Collaborative, Puerto Rico Evans County, NI-IION-SAN, San Francisco, Harvard, Bogalusa and CARDIA. Special attention is given to the hypothesis proposed at the beginning of the Framingham Study and the obstacles and changes to continue the project after the first twenty-four years. We also expose the Seven Countries Study, designed and managed by Ancel Keys, as the first study performed with centralized methodology in various countries, and the studies in various European countries: Whitehall, Manresa, Paris, British Regional, Northwick Park, Caerphilly, Speedwell and PROCAM. We analyse the role of the longitudinal studies in the methodology of later studies: sons and daughters of the Framingham participants, longitudinal studies based on questionnaires, studies of the other risk factors, prevalence of risk factors in retrospective studies, trials of primary prevention (MRFIT, WHO European Collaborative Trial and Gotenburg Study) and the participation of the trained teams in the MONICA Project. We present the issues still under debate in connection with the methodology and results of the longitudinal studies: problems in the periodic examination of the participants in the epidemiologic studies, changes in definition of the new cases of acute cardiovascular events, use and selection of risk functions based on coronary charts to calculate the individual risk and cardiovascular risk factors as yet unknown.

  15. 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

  16. The Non-Communicable Disease Burden in Korea: Findings from the 2012 Korean Burden of Disease Study

    PubMed Central

    2016-01-01

    In recognition of Korea's rising burden of non-communicable diseases (NCDs), we investigated the nation's NCD status and extracted detailed information from the 2012 Korean Burden of Disease study. Consistent with that study, we used disability-adjusted life year (DALY) as a metric. Using national data sources and disability weights specific to the Korean population, we analyzed 116 disaggregated NCDs from the study's four-level disease and injury hierarchy for both sexes and nine age groups. Per 100,000 population, 21,019 DALYs were lost to 116 NCDs. Of those, 13.97% were due to premature death (death prior to the standard life expectancy for a subject's age) and 86.03% to non-fatal health outcomes. Based on traditional statistics, the main causes of health loss were mortality of neoplasms; cardiovascular and circulatory diseases; diabetes, urogenital, blood, and endocrine diseases; and chronic respiratory diseases. When combined with analyses of premature death and non-fatal outcomes, however, a substantially different view emerged: the main causes of health loss were diabetes mellitus, low back pain, chronic obstructive pulmonary disease, ischemic heart disease, ischemic stroke, cirrhosis of the liver, osteoarthritis, asthma, gastritis and duodenitis, and periodontal disease (in that order), collectively causing 49.20% of DALYs. Thus, burden of disease data using DALYs rather than traditional statistics brings a new perspective to characterization of the population's health that provides practical information useful for developing and targeting national NCD control programs to better meet national needs. PMID:27775253

  17. The Non-Communicable Disease Burden in Korea: Findings from the 2012 Korean Burden of Disease Study.

    PubMed

    Yoon, Jihyun; Seo, Hyeyoung; Oh, In Hwan; Yoon, Seok Jun

    2016-11-01

    In recognition of Korea's rising burden of non-communicable diseases (NCDs), we investigated the nation's NCD status and extracted detailed information from the 2012 Korean Burden of Disease study. Consistent with that study, we used disability-adjusted life year (DALY) as a metric. Using national data sources and disability weights specific to the Korean population, we analyzed 116 disaggregated NCDs from the study's four-level disease and injury hierarchy for both sexes and nine age groups. Per 100,000 population, 21,019 DALYs were lost to 116 NCDs. Of those, 13.97% were due to premature death (death prior to the standard life expectancy for a subject's age) and 86.03% to non-fatal health outcomes. Based on traditional statistics, the main causes of health loss were mortality of neoplasms; cardiovascular and circulatory diseases; diabetes, urogenital, blood, and endocrine diseases; and chronic respiratory diseases. When combined with analyses of premature death and non-fatal outcomes, however, a substantially different view emerged: the main causes of health loss were diabetes mellitus, low back pain, chronic obstructive pulmonary disease, ischemic heart disease, ischemic stroke, cirrhosis of the liver, osteoarthritis, asthma, gastritis and duodenitis, and periodontal disease (in that order), collectively causing 49.20% of DALYs. Thus, burden of disease data using DALYs rather than traditional statistics brings a new perspective to characterization of the population's health that provides practical information useful for developing and targeting national NCD control programs to better meet national needs.

  18. Farmers' loss due to Guinea worm disease: a pilot study.

    PubMed

    Brieger, W R; Guyer, J

    1990-04-01

    Guinea worm disease has been blamed for much disability and loss of productivity among farmers in Africa and South Asia. Many studies have tried to equate days lost in illness to monetary values. These attempts often overlook the process of disability in relation to farming patterns. This pilot effort uses a qualitative case study approach to learn about how Guinea worm can cause loss to farmers. Twenty in-depth interviews with affected farmers showed that their losses are related to the time of year they are affected by Guinea worm. Some crops with flexible planting times, e.g. cassava, may not be as affected. Duration of disability is another determining factor. Insights from this pilot study can be used to design more appropriate large-scale survey instruments and guide development of longitudinal research.

  19. An Exploration of Latent Structure in Observational Huntington's Disease Studies.

    PubMed

    Ghosh, Soumya; Sun, Zhaonan; Li, Ying; Cheng, Yu; Mohan, Amrita; Sampaio, Cristina; Hu, Jianying

    2017-01-01

    Huntington's disease (HD) is a monogenic neurodegenerative disorder characterized by the progressive decay of motor and cognitive abilities accompanied by psychiatric episodes. Tracking and modeling the progression of the multi-faceted clinical symptoms of HD is a challenging problem that has important implications for staging of HD patients and the development of improved enrollment criteria for future HD studies and trials. In this paper, we describe the first steps towards this goal. We begin by curating data from four recent observational HD studies, each containing a diverse collection of clinical assessments. The resulting dataset is unprecedented in size and contains data from 19,269 study participants. By analyzing this large dataset, we are able to discover hidden low dimensional structure in the data that correlates well with surrogate measures of HD progression. The discovered structures are promising candidates for future consumption by downstream statistical HD progression models.

  20. Asthmatic disease among urban preschoolers: an observational study.

    PubMed

    Fritz, Gisela J; Herbarth, Olf

    2004-01-01

    Asthma is of increasing concern especially in industrialized countries. This cross-sectional study was to assess the influence of spatial and temporal variations in the urban air pollution profile on asthmatic disease. The prevalences presented are based on physician-diagnosed asthmatic and allergic disease data, collected between 1993 and 1995. Seven hundred and thirty-six preschool children (age 2 to 7, mean 5.7 years) of 37 daycare centres in the City of Leipzig participated in the study. Variations were observed in the lifetime prevalences of asthma and allergy with differences in a residential area's ambient pollution profile. Depending on the level of traffic (high or low), children residing in areas with a dominant coal-heating emission profile had more frequently a diagnosis of asthma, 17.5% and 8.8% (95% confidence intervals [CI]: 10.8...23.5 and 5.8...11.6, respectively), as compared to those, living in centrally heated areas 13.4% and 5.8% (CI: 6.6...19.3 and 1.2...9.6, respectively). Allergic disorders occurred more often in areas with a predominantly traffic-associated pollution profile, 14.3% and 9.6% vs. 5.8% and 3.7% (CI: 7.4...20.3 and 6.4...12.5; 1.2...9.6 and 0.2...6.5, respectively). Interestingly, asthmatic disease was not necessarily associated with a clinical history of allergies. Of the children with physician-diagnosed asthma, 83.7% were not reported to have a concurrent diagnosis of allergies nor to show clinical symptoms. This suggests that environmental exposures (i.e., complex pollution mixtures associated with residential coal-heating and/or traffic) may have differentially influenced the phenotypic expression of asthma. A qualitative discussion is presented on the occurrence of "asthma without reported allergies" in Leipzig.

  1. Balloon Angioplasty for Intracranial Atherosclerotic Disease: A Multicenter Study

    PubMed Central

    Karanam, Lakshmi Sudha Prasanna; Sharma, Mukesh; Alurkar, Anand; Baddam, Sridhar Reddy; Pamidimukkala, Vijaya; Polavarapu, Raghavasarma

    2017-01-01

    Aim To evaluate the role and efficacy of the balloon angioplasty in intracranial atherosclerotic disease (ICAD) in patients who presented with acute stroke due to vessel occlusion and in patients with symptomatic disease despite optimum medical management. Methods From 2013 to 2016, a total of 39 patients (24 males and 15 females with a mean age of 64.5 years) underwent balloon angioplasty over a period of 2 years and 8 months in three different institutions in India. Maverick balloon catheter (Boston scientific) is used in all the patients. MRI brain with MR angiogram was done in all the patients prior to intervention. Twenty-three patients who had underlying severe ICAD presented with acute stroke due to vessel occlusion. Sixteen patients presented with symptomatic ICAD with recurrent ischemic attack due to the progressing underlying disease despite optimum medical management. Technical success, peri-procedural events, and clinical outcomes were documented for all the patients. Results Technical success (residual stenosis < 50%) was achieved in 37 cases. Extra cranial carotid stenting was required in 2 patients. In patients with acute stroke presentation (NIHSS score median of 16.5), adjuvant intravenous and intra-arterial tissue plasminogen activator were given in 8 and 3 patients, respectively, and mechanical thrombectomy (MT) with solitaire was used in 15 patients. Patients who underwent MT in acute stroke without ICAD were not included in the study. Reocclusion occurred in one patient who developed disabling stroke and one patient died of intra-cerebral hemorrhage. Thus, the mortality of this study is 2%. Clinical outcome was assessed based on mRS. One-month, three-month, and six-month follow-up was available in >90% of the patients. MR angiogram on follow-up of nine months was done in 26 patients, and none of them had restenosis. Conclusion Balloon angioplasty is a safe option and can be effectively used in patients of ICAD with acceptable risks and

  2. Retrospective study of prognostic factors in pediatric invasive pneumococcal disease

    PubMed Central

    Peng, Chun-Chih; Chang, Hung-Yang; Huang, Daniel Tsung-Ning; Chang, Lung; Lei, Wei-Te

    2017-01-01

    Streptococcus pneumoniae remains the leading causative pathogen in pediatric pneumonia and bacteremia throughout the world. The invasive pneumococcal disease (IPD) is known as isolation of S. pneumoniae from a normally sterile site (e.g., blood, cerebrospinal fluid, synovial fluid, pericardial fluid, pleural fluid, or peritoneal fluid). The aim of this study is to survey the clinical manifestations and laboratory results of IPD and identify the prognostic factors of mortality. From January 2001 to December 2006, a retrospective review of chart was performed in a teaching hospital in Taipei. The hospitalized pediatric patients with the diagnosis of pneumonia, arthritis, infectious endocarditis, meningitis or sepsis were recruited. Among them, 50 patients were pneumococcal infections proved by positive culture results or antigen tests. Clinical manifestations, laboratory data and hospitalization courses were analyzed. The median age was 3.5-year-old and there were 30 male patients (60%). Eight patients (16%) had underlying disease such as leukemia or congenital heart disease. Hemolytic uremic syndrome (HUS) was observed in ten patients and extracorporeal membrane oxygenation (ECMO) was performed in three patients. Leukocytosis, elevated C-reactive protein and AST level were noted in most of the patients. The overall mortality rate was 10%. We found that leukopenia, thrombocytopenia and high CRP level were significant predictors for mortality. In conclusion, S. pneumoniae remains an important health threat worldwide and IPD is life-threatening with high mortality rate. We found leukopenia, thrombocytopenia, and high CRP levels to be associated with mortality in pediatric IPD, and these factors are worthy of special attention at admission. Although we failed to identify a statistically significant prognostic factor in multivariate analysis due to relatively small sample size, we suggest an aggressive antibiotic treatment in patients with these factors at admission

  3. Identifying complexity in infectious diseases inpatient settings: An observation study.

    PubMed

    Roosan, Don; Weir, Charlene; Samore, Matthew; Jones, Makoto; Rahman, Mumtahena; Stoddard, Gregory J; Del Fiol, Guilherme

    2017-07-01

    Understanding complexity in healthcare has the potential to reduce decision and treatment uncertainty. Therefore, identifying both patient and task complexity may offer better task allocation and design recommendation for next-generation health information technology system design. To identify specific complexity-contributing factors in the infectious disease domain and the relationship with the complexity perceived by clinicians. We observed and audio recorded clinical rounds of three infectious disease teams. Thirty cases were observed for a period of four consecutive days. Transcripts were coded based on clinical complexity-contributing factors from the clinical complexity model. Ratings of complexity on day 1 for each case were collected. We then used statistical methods to identify complexity-contributing factors in relationship to perceived complexity of clinicians. A factor analysis (principal component extraction with varimax rotation) of specific items revealed three factors (eigenvalues>2.0) explaining 47% of total variance, namely task interaction and goals (10 items, 26%, Cronbach's Alpha=0.87), urgency and acuity (6 items, 11%, Cronbach's Alpha=0.67), and psychosocial behavior (4 items, 10%, Cronbach's alpha=0.55). A linear regression analysis showed no statistically significant association between complexity perceived by the physicians and objective complexity, which was measured from coded transcripts by three clinicians (Multiple R-squared=0.13, p=0.61). There were no physician effects on the rating of perceived complexity. Task complexity contributes significantly to overall complexity in the infectious diseases domain. The different complexity-contributing factors found in this study can guide health information technology system designers and researchers for intuitive design. Thus, decision support tools can help reduce the specific complexity-contributing factors. Future studies aimed at understanding clinical domain-specific complexity

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

    PubMed

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

    2015-09-01

    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. 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. 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. 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.

  5. [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.

  6. Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium.

    PubMed

    Lee, Jong-Keuk; Hong, Young Mi; Jang, Gi Young; Yun, Sin Weon; Yu, Jeong Jin; Yoon, Kyung Lim; Lee, Kyung-Yil; Kil, Hong-Rang

    2015-11-01

    In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors.

  7. Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium

    PubMed Central

    Hong, Young Mi; Jang, Gi Young; Yun, Sin Weon; Yu, Jeong Jin; Yoon, Kyung Lim; Lee, Kyung-Yil; Kil, Hong-Rang

    2015-01-01

    In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors. PMID:26617644

  8. Zebrafish as a disease model for studying human hepatocellular carcinoma

    PubMed Central

    Lu, Jeng-Wei; Ho, Yi-Jung; Yang, Yi-Ju; Liao, Heng-An; Ciou, Shih-Ci; Lin, Liang-In; Ou, Da-Liang

    2015-01-01

    Liver cancer is one of the world’s most common cancers and the second leading cause of cancer deaths. Hepatocellular carcinoma (HCC), a primary hepatic cancer, accounts for 90%-95% of liver cancer cases. The pathogenesis of HCC consists of a stepwise process of liver damage that extends over decades, due to hepatitis, fatty liver, fibrosis, and cirrhosis before developing fully into HCC. Multiple risk factors are highly correlated with HCC, including infection with the hepatitis B or C viruses, alcohol abuse, aflatoxin exposure, and metabolic diseases. Over the last decade, genetic alterations, which include the regulation of multiple oncogenes or tumor suppressor genes and the activation of tumorigenesis-related pathways, have also been identified as important factors in HCC. Recently, zebrafish have become an important living vertebrate model organism, especially for translational medical research. In studies focusing on the biology of cancer, carcinogen induced tumors in zebrafish were found to have many similarities to human tumors. Several zebrafish models have therefore been developed to provide insight into the pathogenesis of liver cancer and the related drug discovery and toxicology, and to enable the evaluation of novel small-molecule inhibitors. This review will focus on illustrative examples involving the application of zebrafish models to the study of human liver disease and HCC, through transgenesis, genome editing technology, xenografts, drug discovery, and drug-induced toxic liver injury. PMID:26576090

  9. 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.

  10. Mitochondria in metabolic disease: getting clues from proteomic studies.

    PubMed

    Peinado, Juan R; Diaz-Ruiz, Alberto; Frühbeck, Gema; Malagon, Maria M

    2014-03-01

    Mitochondria play a key role as major regulators of cellular energy homeostasis, but in the context of mitochondrial dysfunction, mitochondria may generate reactive oxidative species and induce cellular apoptosis. Indeed, altered mitochondrial status has been linked to the pathogenesis of several metabolic disorders and specially disorders related to insulin resistance, such as obesity, type 2 diabetes, and other comorbidities comprising the metabolic syndrome. In the present review, we summarize information from various mitochondrial proteomic studies of insulin-sensitive tissues under different metabolic states. To that end, we first focus our attention on the pancreas, as mitochondrial malfunction has been shown to contribute to beta cell failure and impaired insulin release. Furthermore, proteomic studies of mitochondria obtained from liver, muscle, and adipose tissue are summarized, as these tissues constitute the primary insulin target metabolic tissues. Since recent advances in proteomic techniques have exposed the importance of PTMs in the development of metabolic disease, we also present information on specific PTMs that may directly affect mitochondria during the pathogenesis of metabolic disease. Specifically, mitochondrial protein acetylation, phosphorylation, and other PTMs related to oxidative damage, such as nitrosylation and carbonylation, are discussed.

  11. Periodontal disease and spontaneous preterm birth: a case control study

    PubMed Central

    Wood, Stephen; Frydman, Albert; Cox, Stephen; Brant, Rollin; Needoba, Sheilia; Eley, Barry; Sauve, Reg

    2006-01-01

    Background Several studies have suggested an association between periodontal disease and prematurity but this finding has not been consistently observed. Methods Case control study. Cases (n = 50) were women who had delivered after spontaneous preterm labor at <35 weeks gestation. Two groups of controls (n = 101) were recruited: women who were undelivered but at a preterm gestation and women who delivered at term. A standard, clinical, periodontal examination was performed and gingival crevicular fluid was obtained from standardized locations and tested for neutrophil elastase along with the bacterial enzymes gingipain and dipeptidylpeptidase. Data were analyzed with Fisher's exact tests, ANOVA and multivariate logistic regression. Results There was no difference in the proportion of sites with significant attachment loss (≥3 mm): Cases-3.2%, Controls-2.2% p = 0.21. The gingival crevicular fluid concentrations of elastase and gingipain were elevated in cases vs. controls 238.8 uU/ul vs. 159.6 uU/ul p = .007 and 2.70 uU/ul vs. 1.56 uU/ul p = .001. On multivariate analysis, the mean log concentration of elastase, but not of gingipain, remained a significant predictor of preterm labor p = .0.015. Conclusion We found no evidence that clinical periodontal disease is associated with spontaneous preterm birth. Elevated gingival crevicular fluid levels of elastase were associated with preterm birth but further research is needed before this can be assumed to be a causal relationship. PMID:16848912

  12. Postmenopausal hormone therapy and Alzheimer disease: A prospective cohort study.

    PubMed

    Imtiaz, Bushra; Tuppurainen, Marjo; Rikkonen, Toni; Kivipelto, Miia; Soininen, Hilkka; Kröger, Heikki; Tolppanen, Anna-Maija

    2017-03-14

    To explore the association between postmenopausal hormone therapy (HT) and Alzheimer disease (AD). Twenty-year follow-up data from the Kuopio Osteoporosis Risk Factor and Prevention study cohort were used. Self-administered questionnaires were sent to all women aged 47-56 years, residing in Kuopio Province starting in 1989 until 2009, every 5th year. Register-based information on HT prescriptions was available since 1995. Probable AD cases, based on DSM-IV and National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association criteria, were identified from the special reimbursement register (1999-2009). The study population included 8,195 women (227 cases of incident AD). Postmenopausal estrogen use was not associated with AD risk in register-based or self-reported data (hazard ratio/95% confidence interval 0.92/0.68-1.2, 0.99/0.75-1.3, respectively). Long-term self-reported postmenopausal HT was associated with reduced AD risk (0.53/0.31-0.91). Similar results were obtained with any dementia diagnosis in the hospital discharge register as an outcome. Our results do not provide strong evidence for a protective association between postmenopausal HT use and AD or dementia, although we observed a reduced AD risk among those with long-term self-reported HT use. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  13. [Treatment pattern of Alzheimer's disease with cholinesterase inhibitors (TRAIN study)].

    PubMed

    Gil-Néciga, E; Gobartt, A L

    To describe the relation between the level of cognitive impairment in Alzheimer's disease and the use of cholinesterase inhibitors (ChEIs) in neurology, geriatric and psychiatric units, and to establish the clinical profile of these patients. An epidemiological, multi-centre, cross-sectional study was conducted. Subjects included in the study were consecutive outpatients diagnosed with Alzheimer's disease, in accordance with the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, and who had been treated with rivastigmine, donepezil or galantamine, either on its own or in association with memantine in the last six months. The recruitment period lasted three months. In a single visit, researchers determined the medication that was used, the dose, the mini-mental test, the overall clinical impression-overall improvement and the overall clinical impression-severity of the disease. A total of 1940 patients were selected from neurology, psychiatric and geriatric services all over the country. Possible differences in the habits of different specialists as regards prescribing were analysed, together with the relation between cognitive impairment and the type of medication employed. The mean age of the patients was 77 +/- 6.6 years, 62% of whom were females; the mean score on the mini-mental test was 17.4 +/- 5.5. The mini-mental score was similar in patients treated with rivastigmine (18.02 +/- 5.23), donepezil (17.08 +/- 5.54) or galantamine (17.34 +/- 5.38). In patients who were treated with memantine in association with a ChEI, the mini-mental score was significantly lower (11.44 +/- 5.68) (p < 0.0001). The doses of the different ChEIs used by the specialists were similar. A higher percentage of patients had maximum doses of donepezil (81%) than in the cases of rivastigmine (43%) and galantamine (67%). The different specialists involved (neurologists, geriatricians and psychiatrists) displayed similar habits regarding the utilisation of Ch

  14. The Australian Burden of Disease Study: measuring the loss of health from diseases, injuries and risk factors.

    PubMed

    Mathers, C D; Vos, E T; Stevenson, C E; Begg, S J

    2000-06-19

    This is an overview of the first burden of disease and injury studies carried out in Australia. Methods developed for the World Bank and World Health Organization Global Burden of Disease Study were adapted and applied to Australian population health data. Depression was found to be the top-ranking cause of non-fatal disease burden in Australia, causing 8% of the total years lost due to disability in 1996. Mental disorders overall were responsible for nearly 30% of the non-fatal disease burden. The leading causes of total disease burden (disability-adjusted life years [DALYs]) were ischaemic heart disease and stroke, together causing nearly 18% of the total disease burden. Depression was the fourth leading cause of disease burden, accounting for 3.7% of the total burden. Of the 10 major risk factors to which the disease burden can be attributed, tobacco smoking causes an estimated 10% of the total disease burden in Australia, followed by physical inactivity (7%).

  15. Handwriting Rehabilitation in Parkinson Disease: A Pilot Study.

    PubMed

    Ziliotto, Adriana; Cersosimo, Maria G; Micheli, Federico E

    2015-08-01

    To assess the utility of handwriting rehabilitation (HR) in Parkinson disease (PD) patients who experienced difficulties with handwriting and signing. Sixty PD patients were prospectively studied with graphological evaluations. Thirty PD patients were assigned to HR for 9 weeks. At the end of this training, all patients were evaluated again and results of basal vs. final evaluations were compared. At final evaluation, the group assigned to HR showed significantly larger amplitude of the first 'e' in the phrase, larger signature surface area, and superior margin. A trend of increase in letter size was also observed. Handwriting with progressively decreasing size of letters and ascending direction with respect to the horizontal were prominent findings in both groups of patients and they did not change after HR. Rehabilitation programs for handwriting problems in PD patients are likely to be helpful. Larger randomized studies are needed to confirm these results.

  16. Weather patterns and Legionnaires' disease: a meteorological study.

    PubMed

    Ricketts, K D; Charlett, A; Gelb, D; Lane, C; Lee, J V; Joseph, C A

    2009-07-01

    This study examined the impact of meteorological conditions on sporadic, community-acquired cases of Legionnaires' disease in England and Wales (2003-2006), with reference to the 2006 increase in cases. A case-crossover methodology compared each case with self-controlled data using a conditional logistic regression analysis. Effect modification by quarter and year was explored. In total, 674 cases were entered into the dataset and two meteorological variables were selected for study based on preliminary analyses: relative humidity during a case's incubation period, and temperature during the 10-14 weeks preceding onset. For the quarter July-September there was strong evidence to suggest a year, humidity and temperature interaction (Wald chi2=30.59, 3 d.f., P<0.0001). These findings have implications for future case numbers and resource requirements.

  17. Handwriting Rehabilitation in Parkinson Disease: A Pilot Study

    PubMed Central

    Ziliotto, Adriana; Micheli, Federico E.

    2015-01-01

    Objective To assess the utility of handwriting rehabilitation (HR) in Parkinson disease (PD) patients who experienced difficulties with handwriting and signing. Methods Sixty PD patients were prospectively studied with graphological evaluations. Thirty PD patients were assigned to HR for 9 weeks. At the end of this training, all patients were evaluated again and results of basal vs. final evaluations were compared. Results At final evaluation, the group assigned to HR showed significantly larger amplitude of the first 'e' in the phrase, larger signature surface area, and superior margin. A trend of increase in letter size was also observed. Handwriting with progressively decreasing size of letters and ascending direction with respect to the horizontal were prominent findings in both groups of patients and they did not change after HR. Conclusion Rehabilitation programs for handwriting problems in PD patients are likely to be helpful. Larger randomized studies are needed to confirm these results. PMID:26361595

  18. SPECT study of regional cerebral blood flow in Alzheimer disease

    SciTech Connect

    Bonte, F.J.; Ross, E.D.; Chehabi, H.H.; Devous, M.D. Sr.

    1986-07-01

    A common cause of dementia in late midlife and old age is Alzheimer disease (AD), which affects more than one in 20 individuals over the age of 65. Past studies of regional cerebral blood flow (rCBF) in patients with AD here suggested blood flow abnormalities, but findings have differed. We have studied 37 patients diagnosed as having AD with inhalation and washout of /sup 133/Xe and single-photon emission computed tomography (SPECT), obtaining evidence of abnormal rCBF patterns in 19. Flow reductions were most common in the temporoparietal regions and were occasionally found in the frontal areas. Investigators using positron-emission tomography (PET) have identified similar findings with respect to rCBF and regional oxygen, glucose, and protein metabolism. The SPECT determination of rCBF, which gives information similar to that provided by PET, may assume importance in the diagnosis of AD and in the differential diagnosis of the dementias.

  19. Hodgkin's disease: case control epidemiological study in Yorkshire.

    PubMed Central

    Bernard, S. M.; Cartwright, R. A.; Darwin, C. M.; Richards, I. D.; Roberts, B.; O'Brien, C.; Bird, C. C.

    1987-01-01

    This is the first report of a case-control epidemiological study on lymphomas and leukaemias occurring in Yorkshire during 1979-84. This paper deals with the results of the Hodgkin's disease analysis comprising 248 cases and 489 controls. The results indicate support for previous work with respect to small family size and past history of infectious mononucleosis. Positive observations made in a previous pilot study are also confirmed and extended with respect to associations with certain chronic skin lesions, dental anaesthesia and familial factors. Negative associations are described with respect to X-ray exposures and cigarette smoking. It is proposed that these results fit into a general hypothesis that these conditions are the result of interaction between infectious agents and altered immunity in those persons genetically predisposed. PMID:3814482

  20. Hodgkin's disease: case control epidemiological study in Yorkshire.

    PubMed

    Bernard, S M; Cartwright, R A; Darwin, C M; Richards, I D; Roberts, B; O'Brien, C; Bird, C C

    1987-01-01

    This is the first report of a case-control epidemiological study on lymphomas and leukaemias occurring in Yorkshire during 1979-84. This paper deals with the results of the Hodgkin's disease analysis comprising 248 cases and 489 controls. The results indicate support for previous work with respect to small family size and past history of infectious mononucleosis. Positive observations made in a previous pilot study are also confirmed and extended with respect to associations with certain chronic skin lesions, dental anaesthesia and familial factors. Negative associations are described with respect to X-ray exposures and cigarette smoking. It is proposed that these results fit into a general hypothesis that these conditions are the result of interaction between infectious agents and altered immunity in those persons genetically predisposed.

  1. Synergistic Effects of Six Chronic Disease Pairs on Decreased Physical Activity: The SMILE Cohort Study

    PubMed Central

    Dörenkamp, Sarah; Mesters, Ilse; Vos, Rein; Schepers, Jan; van den Akker, Marjan; Teijink, Joep; de Bie, Rob

    2016-01-01

    Little is known about whether and how two chronic diseases interact with each other in modifying the risk of physical inactivity. The aim of the present study is to identify chronic disease pairs that are associated with compliance or noncompliance with the Dutch PA guideline recommendation and to study whether specific chronic disease pairs indicate an extra effect on top of the effects of the diseases individually. Cross-sectional data from 3,386 participants of cohort study SMILE were used and logistic regression analysis was performed to study the joint effect of the two diseases of each chronic disease pair for compliance with the Dutch PA guideline. For six chronic disease pairs, patients suffering from both diseases belonging to these disease pairs in question show a higher probability of noncompliance to the Dutch PA guideline, compared to what one would expect based on the effects of each of the two diseases alone. These six chronic disease pairs were chronic respiratory disease and severe back problems; migraine and inflammatory joint disease; chronic respiratory disease and severe kidney disease; chronic respiratory disease and inflammatory joint disease; inflammatory joint disease and rheumatoid arthritis; and rheumatoid arthritis and osteoarthritis of the knees, hips, and hands. PMID:27274994

  2. CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study.

    PubMed

    Kang, Ju-Hee; Mollenhauer, Brit; Coffey, Christopher S; Toledo, Jon B; Weintraub, Daniel; Galasko, Douglas R; Irwin, David J; Van Deerlin, Vivianna; Chen-Plotkin, Alice S; Caspell-Garcia, Chelsea; Waligórska, Teresa; Taylor, Peggy; Shah, Nirali; Pan, Sarah; Zero, Pawel; Frasier, Mark; Marek, Kenneth; Kieburtz, Karl; Jennings, Danna; Tanner, Caroline M; Simuni, Tanya; Singleton, Andrew; Toga, Arthur W; Chowdhury, Sohini; Trojanowski, John Q; Shaw, Leslie M

    2016-06-01

    The development of biomarkers to predict the progression of Parkinson's disease (PD) from its earliest stage through its heterogeneous course is critical for research and therapeutic development. The Parkinson's Progression Markers Initiative (PPMI) study is an ongoing international multicenter, prospective study to validate biomarkers in drug-naïve PD patients and matched healthy controls (HC). We quantified cerebrospinal fluid (CSF) alpha-synuclein (α-syn), amyloid-beta1-42 (Aβ1-42), total tau (t-tau), and tau phosphorylated at Thr181 (p-tau) in 660 PPMI subjects at baseline, and correlated these data with measures of the clinical features of these subjects. We found that CSF α-syn, t-tau and p-tau levels, but not Aβ1-42, were significantly lower in PD compared with HC, while the diagnostic value of the individual CSF biomarkers for PD diagnosis was limited due to large overlap. The level of α-syn, but not other biomarkers, was significantly lower in PD patients with non-tremor-dominant phenotype compared with tremor-dominant phenotype. In addition, in PD patients the lowest Aβ1-42, or highest t-tau/Aβ1-42 and t-tau/α-syn quintile in PD patients were associated with more severe non-motor dysfunction compared with the highest or lowest quintiles, respectively. In a multivariate regression model, lower α-syn was significantly associated with worse cognitive test performance. APOE ε4 genotype was associated with lower levels of Aβ1-42, but neither with PD diagnosis nor cognition. Our data suggest that the measurement of CSF biomarkers in early-stage PD patients may relate to disease heterogeneity seen in PD. Longitudinal observations in PPMI subjects are needed to define their prognostic performance.

  3. Italy and Argentina compared: an epidemiological study of occupational diseases.

    PubMed

    De Sio, S; Goglia, C; Cristaudo, A; Pacella, E; Romanelli, F; Santilli, V; Vitarelli, A; Mandolesi, D; Balladore, F; Nieto, H

    2016-01-01

    The research presented in this paper analyses the clinic-pathological manifestations and work-related health risks identified among outpatients treated in the hospitals of Rome and Buenos Aires. The occupational anamnestic data were collected between 2013 and 2014 through questionnaires with specific items aimed at detecting occupational diseases classified by target organ systems in outpatient clinics of cardiology, dermatology, physical medicine, ophthalmology, orthopedics, endocrinology (thyroid and gonads). An inferential statistical analysis was then carried out to evaluate the relationship between nationality, exposure to occupational risks and the prevalence and incidence of the selected pathologies. An univariate statistical analysis was performed for this purpose and, in the case of statistically significant results, a subsequent multivariate analysis was used to evaluate the incidence of occupational risk factors and nationality on the pathology diagnosed in conjunction with other confounding factors such as smoking habits and gender. The total sample consisted of 1090 subjects of both sexes. Risks were grouped into seven categories and diseases into 12 diagnostic groups. We analyzed the correlation between risks and diseases with respect to hospital outpatients and to the total sample then comparing Argentina and Italy's data. Analysis of data revealed a higher prevalence of hypertension and dysmetabolic disorders for DSE (Display Screen Equipment) workers both in Italy and Argentina; however, multivariate analysis showed that smoking represents a confounding factor for this association. A higher prevalence of allergic contact dermatitis (ACD) was found in the population samples of Rome and there appeared to be a correlation between eye disorders/defects and Argentine data source. Our study suggests the usefulness of collecting occupational anamnestic data from outpatient departments to highlight possible associations between occupational risks

  4. Alzheimer's disease and smoking: bias in cohort studies.

    PubMed

    Debanne, Sara M; Bielefeld, Roger A; Cheruvu, Vinay K; Fritsch, Thomas; Rowland, Douglas Y

    2007-06-01

    The discrepancy between cohort and case-control studies regarding the association between smoking and Alzheimer's disease (AD) has been attributed to the competing risk of early mortality of smokers. A simulation study was conducted to show that the bias favoring smokers acts also on cohort studies. In the model, individuals {grow older} and have smoking habits according to published year-age-gender-specific patterns, with morbidity and mortality according to their demographic and smoking profiles. Those individuals dying of smoking-related causes ("phantoms") remain at risk of AD and of death from other causes. Three scenarios were considered: no association of AD and smoking, increased risk for smokers, and decreased risk for smokers. For each simulation of a cohort study, two incidence density ratios (IDR) were computed: one including the phantoms that developed AD (thus ignoring smoking-related deaths) and another excluding them (thus mimicking real-life studies). For all scenarios, the simulations show that smoking-related death creates a bias, resulting in smokers having an understated risk of AD compared to non-smokers. The speculation that the conflicting results of case-control and cohort studies are solely due to the increased mortality in smokers thus appears unjustified. Other factors must also be considered to explain the discrepancy in results.

  5. Ethnicity and Onset of Cardiovascular Disease: A CALIBER Study

    ClinicalTrials.gov

    2017-06-07

    Abdominal Aortic Aneurysm; Coronary Heart Disease; Sudden Cardiac Death; Intracerebral Haemorrhage; Heart Failure; Ischemic Stroke; Myocardial Infarction; Stroke; Peripheral Arterial Disease; Stable Angina Pectoris; Subarachnoid Haemorrhage; Transient Ischemic Attack; Unstable Angina; Cardiac Arrest

  6. Pilot study: peripheral biomarkers for diagnosing sporadic Parkinson's disease.

    PubMed

    Grünblatt, Edna; Zehetmayer, Sonja; Jacob, Christian P; Müller, Thomas; Jost, Wolfgang H; Riederer, Peter

    2010-12-01

    The need for an early and differential diagnosis of Parkinson's disease (PD) is undoubtedly one of the main quests of the century. An early biomarker would enable therapy to begin sooner and would, hopefully, slow or better prevent progression of the disease. We performed transcript profiling via quantitative RT-PCR in RNA originating from peripheral blood samples. The groups were de novo (n = 11) and medicated PD (n = 94) subjects and healthy controls (n = 34), while for negative control Alzheimer's disease (AD; n = 14) subjects were recruited as an additional neurodegenerative disease. The results were retested on a second recruitment consisting 22 medicated PD subjects versus 33 controls and 12 AD. Twelve transcripts were chosen as candidate genes, according to previous postmortem brain profiling. Multiple analyses resulted in four significant genes: proteasome (prosome, macropain) subunit-alpha type-2 (PSMA2; p = 0.0002, OR = 1.15 95% CI 1.07-1.24), laminin, beta-2 (laminin S) (LAMB2; p = 0.0078, OR = 2.26 95% CI 1.24-4.14), aldehyde dehydrogenase 1 family-member A1 (ALDH1A1; p = 0.016, OR = 1.05 95% CI 1.01-1.1), and histone cluster-1 H3e (HIST1H3E; p = 0.03, OR = 0.975 95% CI 0.953-0.998) differentiating between medicated PD subjects versus controls. Using these four biomarkers for PD diagnosis, we achieved sensitivity and specificity of more than 80%. These biomarkers might be specific for PD diagnosis, since in AD subjects no significant results were observed. In the second validation, three genes (PSMA2, LAMB2 and ALDH1A1) demonstrated high reproducibility. This result supports previous studies of gene expression profiling and may facilitate the development of biomarkers for early diagnosis of PD.

  7. Quality of Life and Economic Burden of Respiratory Disease in Asia-Pacific-Asia-Pacific Burden of Respiratory Diseases Study.

    PubMed

    Wang, De Yun; Ghoshal, Aloke Gopal; Bin Abdul Muttalif, Abdul Razak; Lin, Horng-Chyuan; Thanaviratananich, Sanguansak; Bagga, Shalini; Faruqi, Rab; Sajjan, Shiva; Brnabic, Alan J M; Dehle, Francis C; Cho, Sang-Heon

    2016-05-01

    Asia-Pacific Burden of Respiratory Diseases is a cross-sectional, observational study examining the burden of disease in adults with respiratory diseases across six countries. The aim of this study was to describe health care resource use (HCRU), work impairment, cost burden, and health-related quality of life (HRQOL) associated with respiratory disease in the Asia-Pacific. Consecutive participants aged 18 years or older with a primary diagnosis of asthma, allergic rhinitis, chronic obstructive pulmonary disease, or rhinosinusitis were enrolled. Participants completed a survey detailing respiratory symptoms, HCRU, work productivity and activity impairment, and HRQOL. Locally sourced unit costs for each country were used in the calculation of total costs. The study enrolled 5250 patients. Overall, the mean annual cost for patients with a respiratory disease was US $4191 (SGD 8489) per patient. For patients who reported impairment at work, the mean annual cost was US $7315 (SGD 10,244), with productivity loss being the highest cost component for all four diseases (US $6310 [SGD 9100]). On average, patients were impaired for one-third of their time at work and 5% of their work time missed because of respiratory disease, which resulted in a 36% reduction in productivity. Patients with a primary diagnosis of chronic obstructive pulmonary disease had the greatest impact on HRQOL. In the Asia-Pacific, respiratory diseases have a significant impact on HCRU and associated costs, along with work productivity. Timely and effective management of these diseases has the potential to reduce disease burden and health care costs and improve work productivity and HRQOL. Copyright © 2015 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

  8. A Lyme Disease Case Study and Individualized Healthcare Plan

    ERIC Educational Resources Information Center

    Cavendish, Roberta

    2003-01-01

    The Atlantic and Pacific coasts are the boundaries of Lyme disease with the Northeastern and Midwestern regions of the United States continuing to report the majority of cases. New reported cases of Lyme disease doubled from 1991 to 2001 according to statistics published by the Centers for Disease Control and Prevention (CDC, 2002). Within that…

  9. A Lyme Disease Case Study and Individualized Healthcare Plan

    ERIC Educational Resources Information Center

    Cavendish, Roberta

    2003-01-01

    The Atlantic and Pacific coasts are the boundaries of Lyme disease with the Northeastern and Midwestern regions of the United States continuing to report the majority of cases. New reported cases of Lyme disease doubled from 1991 to 2001 according to statistics published by the Centers for Disease Control and Prevention (CDC, 2002). Within that…

  10. USHERING IN THE STUDY AND TREATMENT OF PRECLINICAL ALZHEIMER DISEASE

    PubMed Central

    Langbaum, Jessica B.S.; Fleisher, Adam S.; Chen, Kewei; Ayutyanont, Napatkamon; Lopera, Francisco; Quiroz, Yakeel T.; Caselli, Richard J.; Tariot, Pierre N.; Reiman, Eric M.

    2014-01-01

    Researchers have begun to characterize the subtle biological and cognitive processes that precede the clinical onset of Alzheimer disease (AD), and to set the stage for accelerated evaluation of experimental treatments to delay the onset, reduce the risk of or completely prevent clinical decline. Here, we provide an overview of the experimental strategies, and brain imaging and cerebrospinal fluid biomarker measures that are used in early detection and tracking of AD, highlighting at-risk individuals who could be suitable for preclinical monitoring. We discuss how these advances have contributed to reconceptualization of AD as a sequence of biological changes that occur during progression from preclinical AD, to mild cognitive impairment and finally dementia, and we review recently proposed research criteria for preclinical AD. Advances in the study of preclinical AD have driven the recognition that efficacy of at least some AD therapies may depend on initiation of treatment before clinical manifestation of disease, leading to a new era of AD prevention research. PMID:23752908

  11. Ushering in the study and treatment of preclinical Alzheimer disease.

    PubMed

    Langbaum, Jessica B; Fleisher, Adam S; Chen, Kewei; Ayutyanont, Napatkamon; Lopera, Francisco; Quiroz, Yakeel T; Caselli, Richard J; Tariot, Pierre N; Reiman, Eric M

    2013-07-01

    Researchers have begun to characterize the subtle biological and cognitive processes that precede the clinical onset of Alzheimer disease (AD), and to set the stage for accelerated evaluation of experimental treatments to delay the onset, reduce the risk of, or completely prevent clinical decline. In this Review, we provide an overview of the experimental strategies, and brain imaging and cerebrospinal fluid biomarker measures that are used in early detection and tracking of AD, highlighting at-risk individuals who could be suitable for preclinical monitoring. We discuss how advances in the field have contributed to reconceptualization of AD as a sequence of biological changes that occur during progression from preclinical AD, to mild cognitive impairment and finally dementia, and we review recently proposed research criteria for preclinical AD. Advances in the study of preclinical AD have driven the recognition that efficacy of at least some AD therapies may depend on initiation of treatment before clinical manifestation of disease, leading to a new era of AD prevention research.

  12. Turner syndrome and autoimmune diseases: record-linkage study.

    PubMed

    Goldacre, Michael J; Seminog, Olena O

    2014-01-01

    There is increasing evidence that Turner syndrome is associated with an elevated risk of a range of autoimmune disorders. We aimed to document this in a national study. Use of a record-linked dataset of all hospital admissions in England, 1999-2011, to construct a retrospective cohort of people with Turner syndrome and a control cohort of people without it. Statistical follow-up to identify the occurrence of 29 separate autoimmune disorders in each cohort. Calculation of rate ratios, comparing the Turner and control cohorts. In the Turner syndrome cohort (2459 people), rate ratios were elevated for 16 of the 29 conditions. Examples included coeliac disease (rate ratio 14.0, 95% CI 10.2 to 18.8), Crohn's disease (5.3, 3.5 to 7.8), ulcerative colitis (3.9, 2.3 to 6.1), hypothyroidism (8.8, 7.8 to 9.9) and hyperthyroidism (4.9, 3.2 to 7.1). The increased risk of autoimmune disorders in people with Turner syndrome covers a wide range of conditions.

  13. Computational Study of Ventilation and Disease Spread in Poultry Houses

    NASA Astrophysics Data System (ADS)

    Cimbala, John; Pawar, Sourabh; Wheeler, Eileen; Lindberg, Darla

    2006-11-01

    The air flow in and around poultry houses has been studied numerically with the goal of determining disease spread characteristics and comparing ventilation schemes. A typical manure-belt layer egg production facility is considered. The continuity, momentum, and energy equations are solved for flow both inside and outside poultry houses using the commercial computational fluid dynamics (CFD) code FLUENT. Both simplified two-dimensional and fully three-dimensional geometries are modeled. The spread of virus particles is considered to be analogous to diffusion of a tracer contaminant gas, in this case ammonia. The effect of thermal plumes produced by the hens in the poultry house is also considered. Two ventilation schemes with opposite flow directions are compared. Contours of temperature and ammonia mass fraction for both cases are obtained and compared. The analysis shows that ventilation and air quality characteristics are much better for the case in which the air flow is from bottom to top (enhancing the thermal plume) instead of from top to bottom (fighting the thermal plume) as in most poultry houses. This has implications in air quality control in the event of epidemic outbreaks of avian flu or other infectious diseases.

  14. Chemical approaches to the study of environmental diseases

    SciTech Connect

    Phillips, N.J.

    1986-01-01

    Cause-and-effect relationships are difficult to establish in chronic diseases which take years to develop. Awareness of the health hazards posed by long-term, low-level exposure to toxins has focused attention on causative environmental agents. Studies discussed here identified chemical factors potentially involved in the induction of chronic diseases. The novel spiroketal mycotoxins talaromycins A and B (C/sub 12/H/sub 22/O/sub 4/) were isolated from Talaromyces stipitatus, a fungus associated with fermenting silage. /sup 1/H NMR 2D COSY spectroscopy was used to distinguish isolated spin systems in the diastereomeric mixture and to facilitate the complete proton assignments of the pure isomers. Dipolar couplings between protons on different rings of the bicyclic system, observed by NOE difference and 2D Exchange spectroscopy, established the relative configuration of the ketal center. Extracts of the fungus Fusarium equiseti isolated from the home of genetically unrelated leukemia patients showed toxicity to mammals and immunosuppressive activity. Chronic byssinosis may result from accumulation of toxins in the lungs of long-term cotton mill workers.

  15. Quantitative study of salivary secretion in Parkinson's disease.

    PubMed

    Tumilasci, Omar R; Cersósimo, M G; Belforte, Juan E; Micheli, Federico E; Benarroch, Eduardo E; Pazo, Jorge H

    2006-05-01

    We examined basal and reflex salivary flow rate and composition in 46 patients with Parkinson's disease (PD), both in off and on conditions, compared to 13 age-matched controls without underlying disease or treatment affecting autonomic function. Whole saliva was collected 12 hours after withdrawal of dopaminergic drugs and at the peak of levodopa-induced motor improvement. Twenty-three of the 46 PD patients had received domperidone a week before the study. Basal salivary flow rate was significantly lower in PD patients in the off state compared to controls (P<0.005). Levodopa increased salivary flow rate (P<0.05) both in the domperidone-pretreated and untreated groups. Citric acid stimulated salivary flow rate in both the off and on states in PD patients. This effect was higher in the domperidone-pretreated patients. Salivary concentration of sodium, chloride, and amylase was higher in PD patients than in controls and was not affected by levodopa or domperidone treatment. Levodopa stimulates both basal and reflex salivary flow rate in PD. The mechanism appears to be central, as the effect is not blocked by domperidone. Domperidone may have a peripheral effect that potentiates reflex salivary secretion. Salivary composition is abnormal in PD and is not affected by levodopa treatment.

  16. Noninvasive biophotonic imaging for studies of infectious disease

    PubMed Central

    Andreu, Nuria; Zelmer, Andrea; Wiles, Siouxsie

    2011-01-01

    According to World Health Organization estimates, infectious organisms are responsible for approximately one in four deaths worldwide. Animal models play an essential role in the development of vaccines and therapeutic agents but large numbers of animals are required to obtain quantitative microbiological data by tissue sampling. Biophotonic imaging (BPI) is a highly sensitive, nontoxic technique based on the detection of visible light, produced by luciferase-catalysed reactions (bioluminescence) or by excitation of fluorescent molecules, using sensitive photon detectors. The development of bioluminescent/fluorescent microorganisms therefore allows the real-time noninvasive detection of microorganisms within intact living animals. Multiple imaging of the same animal throughout an experiment allows disease progression to be followed with extreme accuracy, reducing the number of animals required to yield statistically meaningful data. In the study of infectious disease, the use of BPI is becoming widespread due to the novel insights it can provide into established models, as well as the impact of the technique on two of the guiding principles of using animals in research, namely reduction and refinement. Here, we review the technology of BPI, from the instrumentation through to the generation of a photonic signal, and illustrate how the technique is shedding light on infection dynamics in vivo. PMID:20955395

  17. 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.

  18. Genomewide association study for onset age in Parkinson disease.

    PubMed

    Latourelle, Jeanne C; Pankratz, Nathan; Dumitriu, Alexandra; Wilk, Jemma B; Goldwurm, Stefano; Pezzoli, Gianni; Mariani, Claudio B; DeStefano, Anita L; Halter, Cheryl; Gusella, James F; Nichols, William C; Myers, Richard H; Foroud, Tatiana

    2009-09-22

    Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age may represent invaluable therapeutic targets to delay the disease, we sought to identify such genetic modifiers using a genomewide association study in familial PD. There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age. Initial analyses were performed using genotypes generated with the Illumina HumanCNV370Duo array in a sample of 857 unrelated, familial PD cases. Subsequently, a meta-analysis of imputed SNPs was performed combining the familial PD data with that from a previous GWAS of 440 idiopathic PD cases. The SNPs from the meta-analysis with the lowest p-values and consistency in the direction of effect for onset age were then genotyped in a replication sample of 747 idiopathic PD cases from the Parkinson Institute Biobank of Milan, Italy. Meta-analysis across the three studies detected consistent association (p < 1 x 10(-5)) with five SNPs, none of which reached genomewide significance. On chromosome 11, the SNP with the lowest p-value (rs10767971; p = 5.4 x 10(-7)) lies between the genes QSER1 and PRRG4. Near the PARK3 linkage region on chromosome 2p13, association was observed with a SNP (rs7577851; p = 8.7 x 10(-6)) which lies in an intron of the AAK1 gene. This gene is closely related to GAK, identified as a possible PD susceptibility gene in the GWAS of the familial PD cases. Taken together, these results suggest an influence of genes involved in endocytosis and lysosomal sorting in PD pathogenesis.

  19. Genomewide association study for onset age in Parkinson disease

    PubMed Central

    Latourelle, Jeanne C; Pankratz, Nathan; Dumitriu, Alexandra; Wilk, Jemma B; Goldwurm, Stefano; Pezzoli, Gianni; Mariani, Claudio B; DeStefano, Anita L; Halter, Cheryl; Gusella, James F; Nichols, William C; Myers, Richard H; Foroud, Tatiana

    2009-01-01

    Background Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age may represent invaluable therapeutic targets to delay the disease, we sought to identify such genetic modifiers using a genomewide association study in familial PD. There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age. Methods Initial analyses were performed using genotypes generated with the Illumina HumanCNV370Duo array in a sample of 857 unrelated, familial PD cases. Subsequently, a meta-analysis of imputed SNPs was performed combining the familial PD data with that from a previous GWAS of 440 idiopathic PD cases. The SNPs from the meta-analysis with the lowest p-values and consistency in the direction of effect for onset age were then genotyped in a replication sample of 747 idiopathic PD cases from the Parkinson Institute Biobank of Milan, Italy. Results Meta-analysis across the three studies detected consistent association (p < 1 × 10-5) with five SNPs, none of which reached genomewide significance. On chromosome 11, the SNP with the lowest p-value (rs10767971; p = 5.4 × 10-7) lies between the genes QSER1 and PRRG4. Near the PARK3 linkage region on chromosome 2p13, association was observed with a SNP (rs7577851; p = 8.7 × 10-6) which lies in an intron of the AAK1 gene. This gene is closely related to GAK, identified as a possible PD susceptibility gene in the GWAS of the familial PD cases. Conclusion Taken together, these results suggest an influence of genes involved in endocytosis and lysosomal sorting in PD pathogenesis. PMID:19772629

  20. Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey.

    PubMed

    Blumental, Sophie; Mouy, Richard; Mahlaoui, Nizar; Bougnoux, Marie-Elisabeth; Debré, Marianne; Beauté, Julien; Lortholary, Olivier; Blanche, Stéphane; Fischer, Alain

    2011-12-01

    Invasive fungal infection (IFI) represents a life-threatening condition for patients with chronic granulomatous disease (CGD) and causes one-third of deaths in this population. This study offers a descriptive review of invasive mold infection (mIFI) in children with CGD over an extended period of time. In a cohort of patients with CGD registered in the French National database for Primary Immunodeficiency, we performed a retrospective review of proven mIFI episodes (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 2008 criteria) occurring from 1984 through 2009. Twenty-nine proven mIFIs were identified in 24 patients. Thirteen (54%) of 24 children were receiving itraconazole prophylaxis. Seven episodes were caused by Aspergillus fumigatus, 10 by Aspergillus nidulans, 2 by Aspergillus species, and 6 by other opportunistic molds (4 patients only had positive pathological examination findings). First proven mIFI occurred later in the group that received itraconazole than in the group without (median time to mIFI, 10 vs 4 years; P < .01), with a higher proportion of infections due to A. nidulans and other opportunistic molds (P < .05). Course of IFI was complex, with the median duration of therapy and hospitalization reaching 446 and 153 days, respectively. Combined antifungal therapy was commonly used. Four patients received geno-identical hematopoietic stem cell transplantation as salvage therapy. Global cure rate among the cohort reached 75%, but sequelae were frequent. Prognosis has improved over time (43% mortality during 1985-1990 vs 6% thereafter; P = .06). Mortality tended to be lower in the group that recieved itraconazole prophylaxis but at the cost of a longer duration of therapy among cured patients. Management of mIFI remains challenging in patients with CGD, but significant improvements have been made over the past

  1. Ferritin Diversity: Mechanistic Studies, Disease Implications, and Materials Chemistry

    NASA Astrophysics Data System (ADS)

    Hilton, Robert J.

    2011-07-01

    The study of ferritin includes a rich history of discoveries and scientific progress. Initially, the composition of ferritin was determined. Soon, it was shown that ferritin is a spherical, hollow protein. Eventually, over several decades of research, the structure and some function of this interesting protein was elucidated. However, the ferritin field was not completely satisfied. Today, for example, researchers are interested in refining the details of ferritin function, in discovering the role of ferritin in a variety of diseases, and in using ferritin for materials chemistry applications. The work presented in this dissertation highlights the progress that we have made in each of these three areas: (1) Mechanistic studies: The buffer used during horse spleen ferritin iron loading significantly influences the mineralization process and the quantity of iron deposited in ferritin. The ferrihydrite core of ferritin is crystalline and ordered when iron is loaded into ferritin in the presence of imidazole buffer. On the other hand, when iron is loaded into ferritin in the presence of MOPS buffer, the ferrihydrite core is less crystalline and less ordered, and a smaller amount of total iron is loaded in ferritin. We also show that iron can be released from the ferritin core in a non-reductive manner. The rate of Fe3+ release from horse spleen ferritin was measured using the Fe3+-specific chelator desferoxamine. We show that iron release occurs by three kinetic events. (2) Disease studies: In order to better understand iron disruption during disease states, we performed in vitro assays that mimicked chronic kidney disease. We tested the hypothesis that elevated levels of serum phosphate interrupted normal iron binding by transferrin and ferritin. Results show that phosphate competes for iron, forming an iron(III)-phosphate complex that is inaccessible to either transferrin or ferritin. Ferritin samples separated from the iron(III)-phosphate complex shows that as the

  2. 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.

  3. Diseases

    Treesearch

    Thomas E. Hinds

    1985-01-01

    Although many diseases attack aspen, relatively few kill or seriously injure living trees. The common leaf diseases, in general, are widely distributed throughout the range of aspen, whereas there are subtle differences in distribution between the important decay fungi, and apparently entirely different areas of distribution of major cankercausing organisms. However,...

  4. Role of "diseased" root cementum in healing following treatment of periodontal disease. A clinical study.

    PubMed

    Nyman, S; Westfelt, E; Sarhed, G; Karring, T

    1988-08-01

    This clinical trial was undertaken to examine whether root debridement in the treatment of periodontal disease must include the removal of the exposed cementum in order to achieve periodontal health. The study included 11 adult patients with moderate to advanced periodontal disease. In a split-mouth design, the dentition of each patient was by random selection divided into test- and control quadrants comprising the incisors, canines and premolars. Following a baseline examination, all patients were given a case presentation and a detailed instruction in self-performed oral hygiene measures. The patients were then subjected to periodontal surgery. Following reverse bevel incisions, buccal and lingual mucoperiosteal flaps were elevated and all granulation tissue was removed. In 2 jaw quadrants (control quadrants) in each patient, the denuded root surfaces were carefully scaled and planed in order to remove soft and hard deposits as well as all cementum, using hand instruments and flame-formed diamond stones. In the contralateral quadrants (test quadrants) the roots were not scaled and planed but soft microbial deposits were removed by polishing the root surfaces with the but soft microbial deposits were removed by polishing the root surfaces with the use of rubber cups, interdental rubber tips and a polishing paste. Calculus in the test quadrants was removed by the use of a curette, but precaution was taken to avoid the removal of cementum. The flaps were repositioned to their original level and sutured. The patients were following active treatment enrolled in a supervised maintenance care program including "professional tooth cleaning" once every 2 weeks for a 3-month period.(ABSTRACT TRUNCATED AT 250 WORDS)

  5. Indexing Disease Progression at Study Entry with Individuals At-Risk for Huntington Disease

    PubMed Central

    Zhang, Ying; Long, Jeffrey D.; Mills, James A.; Warner, John H.; Lu, Wenjing; Paulsen, Jane S.

    2011-01-01

    The identification of clinical and biological markers of disease in persons at risk for Huntington Disease (HD) has increased in efforts to better quantify and characterize the epoch of prodrome prior to clinical diagnosis. Such efforts are critical in the design and implementation of clinical trials for HD so that interventions can occur at a time most likely to increase neuronal survival and maximize daily functioning. A prime consideration in the examination of prodromal individuals is their proximity to diagnosis. It is necessary to quantify proximity so that individual differences in key marker variables can be properly interpreted. We take a data-driven approach to develop an index that can be viewed as a proxy for time to HD diagnosis known as the CAG-Age Product Scaled or CAPS. CAPS is an observed utility variable computed for all genetically at-risk individuals based on age at study entry and CAG repeat length. Results of a longitudinal receiver operating characteristic (ROC) analysis showed that CAPS had a relatively strong ability to predict individuals who became diagnosed, especially in the first 2 years. Bootstrap validation provided evidence that CAPS computed on a new sample from the same population could have similar discriminatory power. Cutoffs for the empirical CAPS distribution can be used to create a classification for mutation-positive individuals (Low-Med-High) that is useful for comparison with the naturally occurring mutation-negative Control group. The classification is an improvement over the one currently in use as it is based on observed data rather than model-based estimated values. PMID:21858921

  6. Therapeutic efficacy of cyclic home elemental enteral alimentation in Crohn's disease: Japanese cooperative Crohn's disease study.

    PubMed

    Matsueda, K; Shoda, R; Takazoe, M; Hiwatashi, N; Bamba, T; Kobayashi, K; Saito, T; Terano, A; Yao, T

    1995-11-01

    Crohn's disease (CD) often flares up and requires frequent hospitalization and/or surgery. Cyclic home elemental enteral alimentation (C-HEEA) was developed to prevent flare-up of CD and to minimize patient hospitalization. However, its therapeutic efficacy has not been studied in a large patient population. Therefore, questionnaires were sent to members of the Inflammatory Bowel Disease (IBD) Research Group of Japan to evaluate the therapeutic efficacy of C-HEEA and to define the factors that may affect the efficacy of the treatment. Data for 410 patients (C-HEEA-treated n = 322; drug-treated n = 88) were collected from 29 institutions and analysis showed the following results. The cumulative remission and non-hospitalization rates of the C-HEEA treated group were significantly higher than the rates of the drug-treated group in all patients and in those with ileitis and ileo-colitis (P < 0.0001, P < 0.001, and P < 0.01, respectively), but no significant difference was noted in patients with colitis. Cumulative remission and non-hospitalization rates were also influenced by the daily calorie content of the elemental diet (ED); more than 1200 kcal of the ED per day was found to be more effective than lower amounts to maintain remission and to prevent hospitalization. The therapeutic efficacy of C-HEEA was shown to be superior to that of drug treatment in patients with CD with ileal involvement, and it is suggested that more than 1200kcal per day should be supplied by the ED to enhance its therapeutic efficacy.

  7. Disease surveillance based on Internet-based linear models: an Australian case study of previously unmodeled infection diseases

    PubMed Central

    Rohart, Florian; Milinovich, Gabriel J.; Avril, Simon M. R.; Lê Cao, Kim-Anh; Tong, Shilu; Hu, Wenbiao

    2016-01-01

    Effective disease surveillance is critical to the functioning of health systems. Traditional approaches are, however, limited in their ability to deliver timely information. Internet-based surveillance systems are a promising approach that may circumvent many of the limitations of traditional health surveillance systems and provide more intelligence on cases of infection, including cases from those that do not use the healthcare system. Infectious disease surveillance systems built on Internet search metrics have been shown to produce accurate estimates of disease weeks before traditional systems and are an economically attractive approach to surveillance; they are, however, also prone to error under certain circumstances. This study sought to explore previously unmodeled diseases by investigating the link between Google Trends search metrics and Australian weekly notification data. We propose using four alternative disease modelling strategies based on linear models that studied the length of the training period used for model construction, determined the most appropriate lag for search metrics, used wavelet transformation for denoising data and enabled the identification of key search queries for each disease. Out of the twenty-four diseases assessed with Australian data, our nowcasting results highlighted promise for two diseases of international concern, Ross River virus and pneumococcal disease. PMID:27994231

  8. Long-Term Disease Course and Pregnancy Outcomes in Women with Inflammatory Bowel Disease: An Indian Cohort Study.

    PubMed

    Padhan, Rajesh Kumar; Kedia, Saurabh; Garg, Sushil Kumar; Bopanna, Sawan; Mouli, V Pratap; Dhingra, Rajan; Makharia, Govind; Ahuja, Vineet

    2017-08-01

    The literature on interaction between pregnancy and inflammatory bowel disease (IBD) is inconsistent, and there are no reports on this aspect from Asia. This study evaluated the impact both IBD and pregnancy have on each other in a large cohort of Indian patients. In total, 514 females with ulcerative colitis (UC) or Crohn's disease (CD) aged between 18 and 45 years attending IBD clinic, at our institute, from July 2004 to July 2013 were screened, and patients with data on pregnancy status were included (n = 406). Pregnancies were categorized as either before, after or coinciding with disease onset. Long-term disease course was ascertained from prospectively maintained records. Pregnancy and fetal outcomes were recorded from antenatal records or individual interviews. Of 406 patients (UC: 336, CD: 70), 310 became pregnant (UC: 256, CD: 54), with a total of 597 pregnancies (UC: 524, CD: 73). More UC patients with pregnancies were in long-term remission than non-pregnant patients (56.7 vs. 43.4 %, p = 0.04). Long-term remission was less frequent in UC patients in whom pregnancy coincided with disease onset than patients with pregnancies before and after/pregnancy after the disease onset (41.4 vs. 62.5 %, p = 0.023). Pregnancies after the disease onset were associated with more cesarean sections and adverse fetal outcomes than pregnancies before disease onset in both UC and CD patients. Long-term disease course in UC patients was better in pregnant as compared to non-pregnant patients. Among pregnant UC patients, disease course was worst when pregnancy coincided with disease onset. Pregnancy and fetal outcomes were worse in pregnancy after disease onset than pregnancy before disease onset.

  9. [Basic studies on enzyme therapy of immune complex diseases].

    PubMed

    Steffen, C; Menzel, J

    1985-04-12

    Several in vitro investigations and animal experiments are described which may be used as experimental basis for the enzymatic treatment of rheumatoid arthritis and, possibly, also other immune complex diseases. Demonstration of absorption of unaltered orally-administered radiolabelled enzymes is shown in guinea pigs and rabbits. In vitro experiments with 4 types of soluble immune complexes which were incubated with gradually increasing amounts of enzymes showed dose-dependent cleavage of complexes. Antigen-induced experimental arthritis of rabbits, fed different amounts of a therapeutically used mixture of enzymes at different times, could be inhibited by this treatment, in dependence of dosage and time of feeding. With respect to the therapeutic applications of this study, the results favour the use of a high dosage repeated daily administration, since duration of effect seems limited.

  10. Facial expression recognition in Alzheimer's disease: a longitudinal study.

    PubMed

    Torres, Bianca; Santos, Raquel Luiza; Sousa, Maria Fernanda Barroso de; Simões Neto, José Pedro; Nogueira, Marcela Moreira Lima; Belfort, Tatiana T; Dias, Rachel; Dourado, Marcia Cristina Nascimento

    2015-05-01

    Facial recognition is one of the most important aspects of social cognition. In this study, we investigate the patterns of change and the factors involved in the ability to recognize emotion in mild Alzheimer's disease (AD). Through a longitudinal design, we assessed 30 people with AD. We used an experimental task that includes matching expressions with picture stimuli, labelling emotions and emotionally recognizing a stimulus situation. We observed a significant difference in the situational recognition task (p ≤ 0.05) between baseline and the second evaluation. The linear regression showed that cognition is a predictor of emotion recognition impairment (p ≤ 0.05). The ability to perceive emotions from facial expressions was impaired, particularly when the emotions presented were relatively subtle. Cognition is recruited to comprehend emotional situations in cases of mild dementia.

  11. Efficient methods for studying stochastic disease and population dynamics.

    PubMed

    Keeling, M J; Ross, J V

    2009-01-01

    Stochastic ecological and epidemiological models are now routinely used to inform management and decision making throughout conservation and public-health. A difficulty with the use of such models is the need to resort to simulation methods when the population size (and hence the size of the state space) becomes large, resulting in the need for a large amount of computation to achieve statistical confidence in results. Here we present two methods that allow evaluation of all quantities associated with one- (and higher) dimensional Markov processes with large state spaces. We illustrate these methods using SIS disease dynamics and studying species that are affected by catastrophic events. The methods allow the possibility of extending exact Markov methods to real-world problems, providing techniques for efficient parameterisation and subsequent analysis.

  12. Genetically Engineered Mouse Models for Studying Inflammatory Bowel Disease

    PubMed Central

    Mizoguchi, Atsushi; Takeuchi, Takahito; Himuro, Hidetomo; Okada, Toshiyuki; Mizoguchi, Emiko

    2015-01-01

    Inflammatory bowel disease (IBD) is a chronic intestinal inflammatory condition that is mediated by very complex mechanisms controlled by genetic, immune, and environmental factors. More than 74 kinds of genetically engineered mouse strains have been established since 1993 for studying IBD. Although mouse models cannot fully reflect human IBD, they have provided significant contributions for not only understanding the mechanism, but also developing new therapeutic means for IBD. Indeed, 20 kinds of genetically engineered mouse models carry the susceptibility genes identified in human IBD, and the functions of some other IBD susceptibility genes have also been dissected out using mouse models. Cutting-edge technologies such as cell-specific and inducible knockout systems, which were recently employed to mouse IBD models, have further enhanced the ability of investigators to provide important and unexpected rationales for developing new therapeutic strategies for IBD. In this review article, we briefly introduce 74 kinds of genetically engineered mouse models that spontaneously develop intestinal inflammation. PMID:26387641

  13. [Caroli's disease. Presentation of 8 cases studied with ERCP].

    PubMed

    Vázquez-Iglesias, J L; García-Reinoso, C; Arnal, F; Valbuena, L; Yáñez, J; Durana, J; Suárez, F; Alonso, P

    1991-07-01

    Eight patients with Caroli's Disease are presented, studied by Endoscopic Retrograde Cholangiopancreatography (ERCP) from January 1976 through January 1990. In this period of time 1,525 procedures were carried out, this entity thus representing 0.52% of patients submitted to ERCP in our population. Six patients were females, being female: male ratio 3:1. Mean age was 52 years (range: 40-75). All patients presented a clinical history of recurring episodes of abdominal pain and/or crisis of cholangitis. In the ERCP carried out in these eight patients, cystic dilatation of intrahepatic left lobe bile ducts were confirmed in five patients, dilatation generalized to both lobes in two, and affecting exclusively the right lobe in one patient.

  14. Disability weights for the Global Burden of Disease 2013 study.

    PubMed

    Salomon, Joshua A; Haagsma, Juanita A; Davis, Adrian; de Noordhout, Charline Maertens; Polinder, Suzanne; Havelaar, Arie H; Cassini, Alessandro; Devleesschauwer, Brecht; Kretzschmar, Mirjam; Speybroeck, Niko; Murray, Christopher J L; Vos, Theo

    2015-11-01

    The Global Burden of Disease (GBD) study assesses health losses from diseases, injuries, and risk factors using disability-adjusted life-years, which need a set of disability weights to quantify health levels associated with non-fatal outcomes. The objective of this study was to estimate disability weights for the GBD 2013 study. We analysed data from new web-based surveys of participants aged 18-65 years, completed in four European countries (Hungary, Italy, the Netherlands, and Sweden) between Sept 23, 2013, and Nov 11, 2013, combined with data previously collected in the GBD 2010 disability weights measurement study. Surveys used paired comparison questions for which respondents considered two hypothetical individuals with different health states and specified which person they deemed healthier than the other. These surveys covered 183 health states pertinent to GBD 2013; of these states, 30 were presented with descriptions revised from previous versions and 18 were new to GBD 2013. We analysed paired comparison data using probit regression analysis and rescaled results to disability weight units between 0 (no loss of health) and 1 (loss equivalent to death). We compared results with previous estimates, and an additional analysis examined sensitivity of paired comparison responses to duration of hypothetical health states. The total analysis sample consisted of 30 230 respondents from the GBD 2010 surveys and 30 660 from the new European surveys. For health states common to GBD 2010 and GBD 2013, results were highly correlated overall (Pearson's r 0·992 [95% uncertainty interval 0·989-0·994]). For health state descriptions that were revised for this study, resulting disability weights were substantially different for a subset of these weights, including those related to hearing loss (eg, complete hearing loss: GBD 2010 0·033 [0·020-0·052]; GBD 2013 0·215 [0·144-0·307]) and treated spinal cord lesions (below the neck: GBD 2010 0·047 [0·028-0·072

  15. A Comparative Study of Central Hemodynamics in Parkinson's Disease.

    PubMed

    Park, Joong Hyun; Han, Sang Won; Baik, Jong Sam

    2017-09-01

    To explore the central aortic pressure in patients with Parkinson's disease (PD). We investigated central arterial stiffness by measurement of the augmentation index (AIx) in PD patients. Patients were eligible for the study if they were de novo PD and 45 years of age or older. The patients' demographics, vascular risk factors, and neurologic examinations were collected at baseline. The AIx was measured by applanation tonometry. A total of 147 subjects (77 in control and 70 in PD groups) were enrolled in the study. While there was no significant difference in peripheral systolic blood pressure (SBP), diastolic blood pressure (DBP), or mean arterial pressure between groups, peripheral pulse pressure (PP) was significantly lower in the PD group than in the control group (p = 0.012). Regarding central pressure, aortic DBP was significantly higher and PP was significantly lower in the PD group (p = 0.001, < 0.0001). Although there was no significant difference in the AIx between the groups, a trend toward a lower AIx was observed in the PD group (31.2% vs. 28.1%, p = 0.074). This study showed that peripheral and central PP was significantly lower in the PD group than in the control group. Our study suggests that PD patients may have a low risk of a cardiovascular event by reason of a lower PP.

  16. Inflammatory Pathways in Parkinson's Disease; A BNE Microarray Study.

    PubMed

    Durrenberger, Pascal F; Grünblatt, Edna; Fernando, Francesca S; Monoranu, Camelia Maria; Evans, Jordan; Riederer, Peter; Reynolds, Richard; Dexter, David T

    2012-01-01

    The aetiology of Parkinson's disease (PD) is yet to be fully understood but it is becoming more and more evident that neuronal cell death may be multifactorial in essence. The main focus of PD research is to better understand substantia nigra homeostasis disruption, particularly in relation to the wide-spread deposition of the aberrant protein α-synuclein. Microarray technology contributed towards PD research with several studies to date and one gene, ALDH1A1 (Aldehyde dehydrogenase 1 family, member A1), consistently reappeared across studies including the present study, highlighting dopamine (DA) metabolism dysfunction resulting in oxidative stress and most probably leading to neuronal cell death. Neuronal cell death leads to increased inflammation through the activation of astrocytes and microglia. Using our dataset, we aimed to isolate some of these pathways so to offer potential novel neuroprotective therapeutic avenues. To that effect our study has focused on the upregulation of P2X7 (purinergic receptor P2X, ligand-gated ion channel, 7) receptor pathway (microglial activation) and on the NOS3 (nitric oxide synthase 3) pathway (angiogenesis). In summary, although the exact initiator of striatal DA neuronal cell death remains to be determined, based on our analysis, this event does not remain without consequence. Extracellular ATP and reactive astrocytes appear to be responsible for the activation of microglia which in turn release proinflammatory cytokines contributing further to the parkinsonian condition. In addition to tackling oxidative stress pathways we also suggest to reduce microglial and endothelial activation to support neuronal outgrowth.

  17. Minimal residual disease studies by flow cytometry in acute leukemia.

    PubMed

    Campana, Dario; Coustan-Smith, Elaine

    2004-01-01

    Minimal residual disease (MRD) assays are increasingly important in the clinical management of patients with acute leukemia. Among the methods available for monitoring MRD, flow cytometry holds great promise for clinical application because of its simplicity and wide availability. Several studies have demonstrated strong correlations between MRD levels by flow cytometry during clinical remission and treatment outcome, lending support to the reliability of this approach. Flow-cytometric detection of MRD is based on the identification of immunophenotypic combinations expressed on leukemic cells but not on normal hematopoietic cells. Its sensitivity depends on the specificity of the immunophenotypes used to track leukemic cells and on the number of cells available for study. Immunophenotypes that allow detection of 1 leukemic cell in 10,000 normal cells can be identified in at least 90% of patients with acute lymphoblastic leukemia; immunophenotypes that allow detection of 1 leukemic cell in 1,000-10,000 normal cells can be identified in at least 85% of patients with acute myeloid leukemia. Identification of new markers of leukemia by gene array technology should lead to the design of simple and reliable antibody panels for universal monitoring of MRD. Here we review the relative advantages and disadvantages of flow cytometry for MRD studies, as well as results obtained in correlative studies with treatment outcome. Copyright 2004 S. Karger AG, Basel

  18. Comparative EEG mapping studies in Huntington's disease patients and controls.

    PubMed

    Painold, Annamaria; Anderer, Peter; Holl, Anna K; Letmaier, Martin; Saletu-Zyhlarz, Gerda M; Saletu, Bernd; Bonelli, Raphael M

    2010-11-01

    Huntington's disease (HD) is a devastating neurodegenerative disorder with prominent motor and cognitive decline. Previous studies with small sample sizes and methodological limitations have described abnormal electroencephalograms (EEG) in this cohort. The aim of the present study was to investigate objectively and quantitatively the neurophysiological basis of the disease in HD patients as compared to normal controls, utilizing EEG mapping. In 55 HD patients and 55 healthy controls, a 3-min vigilance-controlled EEG (V-EEG) was recorded during midmorning hours. Evaluation of 36 EEG variables was carried out by spectral analysis and visualized by EEG mapping techniques. To elucidate drug interference, the analysis was performed for the total group, unmedicated patients only and between treated and untreated patients. Statistical overall analysis by the omnibus significance test demonstrated significant (p < 0.01 and p < 0.05) EEG differences between HD patients and controls. Subsequent univariate analysis revealed a general decrease in total power and absolute alpha and beta power, an increase in delta/theta power, and a slowing of the centroids of delta/theta, beta and total power. The slowing of the EEG in HD reflects a disturbed brain function in the sense of a vigilance decrement, electrophysiologically characterized by inhibited cortical areas (increased delta/theta power) and a lack of normal routine and excitatory activity (decreased alpha and beta power). The results are similar to those found in other dementing disorders. Medication did not affect the overall interpretation of the quantitative EEG analysis, but certain differences might be due to drug interaction, predominantly with antipsychotics. Spearman rank correlations revealed significant correlations between EEG mapping and cognitive and motor impairment in HD patients.

  19. Retinal emboli and cardiovascular disease: the Beaver Dam Eye Study.

    PubMed Central

    Klein, Ronald; Klein, Barbara E K; Moss, Scot E; Meuer, Stacy M

    2003-01-01

    PURPOSE: To describe the 10-year incidence of retinal emboli, the associated risk factors, and the relationship of retinal emboli to stroke and ischemic heart disease mortality. METHODS: The Beaver Dam Eye Study (n = 4,926) is a population-based study of persons 43 to 86 years of age. Retinal emboli were detected at baseline (1988-1990) and at a 5-year (1993-1995) and a 10-year (1998-2000) follow-up by grading of stereoscopic 30 degrees color fundus photographs using standardized protocols. Cause-specific mortality was determined from death certificates. RESULTS: The 10-year cumulative incidence of retinal emboli was 1.5%. While adjusting for age and sex, the incidence of retinal emboli was associated with increased pulse pressure (odds ratio [OR] 4th versus 1st quartile range, 2.42; 95% confidence interval (CI), 0.98-5.97; P test of trend = .03), higher serum total cholesterol (OR, 2.77; 95% CI, 1.06-7.23; P = .03), higher leukocyte count (OR, 2.28; 95% CI, 1.04-4.96; P = .05), smoking status (OR current versus never smoker, 4.60: 95% CI, 2.08-10.16; P < .001), and a history of coronary artery bypass surgery (OR, 7.17; 95% CI, 3.18-16.18; P < .001) at baseline. While controlling for age, sex, and systemic factors, a significantly higher hazard of dying with a mention of stroke on the death certificate was found in people with retinal emboli (hazard ratio, 2.40; 95% CI, 1.16-4.99) compared with those without. CONCLUSIONS: The data show an association of smoking and cardiovascular disease with the incidence of retinal emboli. Also, persons with retinal emboli are at increased risk of stroke-related death. PMID:14971575

  20. Case Control Polysomnographic Studies of Sleep Disorders in Parkinson's Disease

    PubMed Central

    Yong, Ming-Hui; Fook-Chong, Stephanie; Pavanni, Ratnagopal; Lim, Li-Ling; Tan, Eng-King

    2011-01-01

    Background The relationship between a number of primary sleep disorders and Parkinson's disease (PD) is still debated. There are limited case control polysomnographic studies in PD and most of these study sample sizes are small. Methodology/Findings We conducted one of the largest case-control studies involving overnight polysomnographic evaluation, with prospective recruitment of unselected Parkinson's disease patients and healthy controls from an Asian population. The cases were recruited from the specialized movement disorder outpatient clinics in a tertiary referral center, and controls from the same geographical locations. All subjects underwent an overnight polysomnographic study and a multiple sleep latency test. A total of 124 subjects including 56 patients and 68 controls frequency-matched for age and sex were included. Multivariate analysis revealed that patients had significantly shorter total sleep time than controls (p = 0.01), lower sleep efficiency (p = 0.001) and increased REM latency (p = 0.007). In patients, multivariate analysis showed that reduced total sleep time was significantly associated with increased age (p = 0.001) and increased levodopa dose (p = 0.032). The mean Insomnia Severity Index was higher in PD patients (9.0±7.1) compared to controls (3.3±3.9, p<0.001). The mean Epworth Sleepiness Scale score was higher in PD patients (9.3±5.9 vs. 5.7±4.8, p<0.001). Nocturnal arousals, obstructive sleep apnea, periodic leg movements and objective abnormal sleepiness were not increased in our patients. Conclusions/Significance Our case-control polysomnographic study, the first-ever performed in an Asian population, revealed altered sleep architecture and reduced sleep in PD patients compared to controls. Reduced total sleep time was associated with increased age and levodopa dose. However, nocturnal arousals, primary sleep disorders and abnormal sleepiness were not increased in our PD patients suggesting that ethnic

  1. Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.

    PubMed

    Visser, Gepke; Rake, Jan Peter; Labrune, Philippe; Leonard, James V; Moses, Shimon; Ullrich, Kurt; Wendel, Udo; Smit, G Peter A

    2002-10-01

    Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. the following guidelines for the management of patients with glycogen storage disease type 1b are in addition to those general guidelines for glycogen storage disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction.

  2. Established patterns of animal study design undermine translation of disease-modifying therapies for Parkinson’s disease

    PubMed Central

    Zeiss, Caroline J.; Allore, Heather G.; Beck, Amanda P.

    2017-01-01

    Translation of disease-modifying therapies in neurodegenerative disease has been disappointing. Parkinson’s disease (PD) was used to compare patterns of preclinical study design for symptomatic and potentially disease-modifying interventions. We examined the relationship of model, intervention type and timing, outcomes and outcome measures in 543 animal and human studies (1973–2015) across a contemporary cohort of animal and human interventional studies (n = 445), animal studies for approved interventions (n = 28), animal and human studies for those that failed to translate (n = 70). Detailed study design data were collected for 216 studies in non-human primate (NHP) and rodent toxin-induced models. Species-specific patterns of study design prevailed regardless of whether interventions were symptomatic or potentially disease-modifying. In humans and NHPs, interventions were typically given to both sexes well after the PD phenotype was established, and clinical outcome measures were collected at single (symptomatic) or multiple (disease-modifying) time-points. In rodents, interventions often preceded induction of the model, acute toxic protocols were common, usually given to young males, clinical outcome measures were used less commonly, and outcomes were less commonly assessed at multiple time points. These patterns were more prevalent in mice than rats. In contrast, study design factors such as randomization and blinding did not differ appreciably across symptomatic and disease-modifying intervention categories. The translational gap for potentially disease-modifying interventions in PD in part results from study designs, particularly in mice, that fail to model the progressive nature and relatively late intervention characteristic of PD, or that anchor mechanistic and neuropathologic data to longitudinal clinical outcomes. Even if measures to improve reproducibility are broadly adopted, perpetuation of these norms will continue to impede effective translation

  3. 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.

  4. Sedentary behaviour and cardiovascular disease: a review of prospective studies

    PubMed Central

    Ford, Earl S; Caspersen, Carl J

    2015-01-01

    Background Current estimates from objective accelerometer data suggest that American adults are sedentary for ~7.7h/day. Historically, sedentary behaviour was conceptualized as one end of the physical activity spectrum but is increasingly being viewed as a behaviour distinct from physical activity. Methods Prospective studies examining the associations between screen time (watching television, watching videos and using a computer) and sitting time and fatal and non-fatal cardiovascular disease (CVD) were identified. These prospective studies relied on self-reported sedentary behaviour. Results The majority of prospective studies of screen time and sitting time has shown that greater sedentary time is associated with an increased risk of fatal and non-fatal CVD. Compared with the lowest levels of sedentary time, risk estimates ranged up to 1.68 for the highest level of sitting time and 2.25 for the highest level of screen time after adjustment for a series of covariates, including measures of physical activity. For six studies of screen time and CVD, the summary hazard ratio per 2-h increase was 1.17 (95% CI: 1.13–1.20). For two studies of sitting time, the summary hazard ratio per 2-h increase was 1.05 (95% CI: 1.01–1.09). Conclusions Future prospective studies using more objective measures of sedentary behaviour might prove helpful in quantifying better the risk between sedentary behaviour and CVD morbidity and mortality. This budding science may better shape future guideline development as well as clinical and public health interventions to reduce the amount of sedentary behaviour in modern societies. PMID:22634869

  5. The role of churches in disease prevention research studies.

    PubMed Central

    Lasater, T M; Wells, B L; Carleton, R A; Elder, J P

    1986-01-01

    The design of a large-scale research project (The Health and Religion Project) in which church volunteers deliver behavior change programming on major cardiovascular risk factors (smoking, elevated blood pressure, elevated serum cholesterol, excess weight, and physical inactivity) is described. A total of 20 churches (Roman Catholic, Baptist, and Episcopal) were recruited throughout Rhode Island and randomly assigned to five experimental conditions. These conditions were designed to test the necessity of training special task forces to coordinate efforts within each church and to test the relative efficacy of high or low levels of professional (paid staff) involvement. Churches have many characteristics that are compatible with behavior change programming for primary prevention of chronic diseases. However, there have been very few research studies of churches engaging in primary prevention activities. Thus, the first step was to test the churches' receptivity to participation in this type of project. To do this, all churches in Rhode Island were surveyed by mail and phone. Those that met several eligibility criteria were randomly selected for recruitment into the study. The high receptivity of the churches was demonstrated by a response rate of 65 percent (20 of 31). This readiness is bolstered by the fact that all of the 20 churches that originally began the study have remained involved for at least 2 1/2 years. PMID:3083467

  6. Swallowing in patients with Parkinson's disease: a surface electromyography study.

    PubMed

    Ws Coriolano, Maria das Graças; R Belo, Luciana; Carneiro, Danielle; G Asano, Amdore; Al Oliveira, Paulo José; da Silva, Douglas Monteiro; G Lins, Otávio

    2012-12-01

    Our goal was to study deglutition of Parkinson's disease (PD) patients and normal controls (NC) using surface electromyography (sEMG). The study included 15 patients with idiopathic PD and 15 age-matched normal controls. Surface electromyography was collected over the suprahyoid muscle group. Conditions were the following: swallow at once 10 and 20 ml of water and 5 and 10 ml of yogurt of firm consistency, and freely drink 100 ml of water. During swallowing, durations of sEMG were significantly longer in PD patients than in normal controls but no significant differences of amplitudes were found. Eighty percent of the PD patients and 20 % of the NC needed more than one swallow to consume 20 ml of water, while 70 % of the PD patients and none of the NC needed more than one swallow to consume 5 ml of yogurt. PD patients took significantly more time and needed significantly more swallows to drink 100 ml of water than normal controls. We conclude that sEMG might be a simple and useful tool to study and monitor deglutition in PD patients.

  7. Target SNP selection in complex disease association studies

    PubMed Central

    Wjst, Matthias

    2004-01-01

    Background The massive amount of SNP data stored at public internet sites provides unprecedented access to human genetic variation. Selecting target SNP for disease-gene association studies is currently done more or less randomly as decision rules for the selection of functional relevant SNPs are not available. Results We implemented a computational pipeline that retrieves the genomic sequence of target genes, collects information about sequence variation and selects functional motifs containing SNPs. Motifs being considered are gene promoter, exon-intron structure, AU-rich mRNA elements, transcription factor binding motifs, cryptic and enhancer splice sites together with expression in target tissue. As a case study, 396 genes on chromosome 6p21 in the extended HLA region were selected that contributed nearly 20,000 SNPs. By computer annotation ~2,500 SNPs in functional motifs could be identified. Most of these SNPs are disrupting transcription factor binding sites but only those introducing new sites had a significant depressing effect on SNP allele frequency. Other decision rules concern position within motifs, the validity of SNP database entries, the unique occurrence in the genome and conserved sequence context in other mammalian genomes. Conclusion Only 10% of all gene-based SNPs have sequence-predicted functional relevance making them a primary target for genotyping in association studies. PMID:15248903

  8. Cardiac device implantation in Fabry disease: A retrospective monocentric study.

    PubMed

    Sené, Thomas; Lidove, Olivier; Sebbah, Joel; Darondel, Jean-Marc; Picard, Hervé; Aaron, Laurent; Fain, Olivier; Zenone, Thierry; Joly, Dominique; Charron, Philippe; Ziza, Jean-Marc

    2016-10-01

    The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD.Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy. Six patients (4M/2F) required a pacemaker (PM) for sinus node dysfunction (n = 4) or atrioventricular disease (n = 2). One female patient required an internal cardioverter-defibrillator (ICD) to prevent sudden cardiac death because of nonsustained ventricular tachycardia (nSVT). One female patient required PM-ICD for sinus node dysfunction and nSVT. One patient underwent CD implantation before the diagnosis of FD. The annual rate of CD implantation was estimated at 1.90 per 100 person years. On univariate analysis at the end of the follow-up period, the factors associated with ACAs requiring CD implantation were as follows: delayed diagnosis of FD, delayed initiation of enzyme replacement therapy, age at the last follow-up visit, and severe multiorgan phenotype (hypertrophic cardiomyopathy, chronic kidney disease, and/or sensorineural hearing loss). On multivariate analysis, age at diagnosis of FD and age at the last follow-up visit were independently associated with an increased risk of ACAs requiring CD (P < 0.05).Considering the high frequency of ACAs requiring CD implantation and the risk of sudden death in patients with FD, regular monitoring is mandatory, especially in patients with a late diagnosis of FD and/or with a severe phenotype. Regular Holter ECGs, therapeutic education of patients, and deliverance of an emergency card including a phenotype summary are

  9. Studies on the Protein Defect in Tangier Disease

    PubMed Central

    Lux, Samuel E.; Levy, Robert I.; Gotto, Antonio M.; Fredrickson, Donald S.

    1972-01-01

    High density lipoproteins (d 1.063-1.210 g/ml) were isolated from the plasma of normal individuals (HDL) and seven homozygous patients with Tangier disease (HDLt). In Tangier patients, the concentration of protein in the high density region (HDLt) was only 0.5-4.5% of normal. Immunochemical studies, including mixing experiments conducted in vivo and in vitro, indicated that HDLt was different from HDL. HDLt was the only high density lipoprotein detectable in the plasma of Tangier homozygotes. In heterozygotes both HDL and HDLt were present. HDLt was not detected in the plasma of over 300 normal persons and 10 patients with secondary high density lipoprotein deficiency and appeared to be a unique marker for Tangier disease. ApoHDL contained two major apoproteins designated apoLp-Gln-I and apoLp-Gln-II; together they comprised 85-90% of the total protein content. Both of the major HDL apoproteins were present in apoHDLt; but apoLp-Gln-I was disproportionately decreased with respect to apoLp-Gln-II, the ratio of their concentrations being 1: 12 in apoHDLt as compared with 3: 1 in apoHDL. Several minor apoprotein components which together comprise 5-15% of apoHDL were present in approximately normal proportions in apoHDLt. In the HDL of Tangier patients it was estimated that, compared with normal individuals, the concentration of apoLp-Gln-I was decreased about 600-fold and the concentration of apoLp-Gln-II about 17-fold. The decrease in these apoproteins was not due to preferential segregation with the lipoprotein fractions of d < 1.063 g/ml or with the plasma proteins of d > 1.21 g/ml. Tangier apoLp-Gln-I and apoLp-Gln-II appeared to be immunochemically identical with their normal counterparts, and no differences between the two sets of apoproteins were detected on polyacrylamide gel electrophoresis at pH 9.4 or 2.9. These results are most compatible with the hypothesis that the hereditary defect in Tangier disease is a mutation in an allele-regulating synthesis of

  10. [Perceived stress and cardiovascular disease mortality. The Ohsaki Cohort Study].

    PubMed

    Kowata, Emi; Hozawa, Atsushi; Kakizaki, Masako; Tomata, Yasutake; Nagai, Masato; Sugawara, Yumi; Kuriyama, Shinichi; Tsuji, Ichiro

    2012-02-01

    Previous studies have indicated that stress can affect the circulatory system. Although prospective studies have examined the association between perceived stress and cardiovascular disease (CVD) mortality, the results are still controversial. The purpose of the present study was to elucidate the relationship with stratified analyses by alcohol intake category and smoking status. The prospective Ohsaki Cohort Study covered all National Health Insurance beneficiaries aged 40 to 79 years living in the precinct of Ohsaki Public Health Center, Miyagi, Japan. A total of 45,293 Japanese (21,552 men and 23,741 women), without a history of cancer, ischemic heart disease or stroke, and who answered all items related to stress level at the baseline in 1994, were followed prospectively. Over 12 years of follow-up, 1,751 deaths from CVD occurred (994 men and 757 women). We used Cox proportional hazards models to calculate the hazard ratios (HR) and 95% confidence intervals (CI) for CVD mortality according to the perceived stress categories. The low stress category was used as the reference in all analyses. Perceived stress demonstrated a significant positive association with CVD mortality for men; the multivariate adjusted HR for high versus low stress was 1.43 (95% CI: 1.19, 1.87, P = 0.006). No significant relationship was noted for women. With current smokers, perceived high stress versus low had a pronounced association for both men (HR = 1.76, 95% CI: 1.28, 2.41, P = 0.001) and women (HR = 1.61, 95% CI: 1.20, 2.16, P = 0.004), and a similar tendency was noted for current drinking (HR = 1.56, 95% CI: 1.16, 2.09, P = 0.006, HR = 1.42, 95% CI: 1.08, 1.87, P = 0.001). Additionally, for both smoking and drinking men, those reporting high stress had 2 times the risk of CVD mortality of their low stress counterparts (P for trend < 0.001). The interaction of perceived stress with smoking for CVD mortality was of borderline statistical significance only for men (P for interaction

  11. 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

  12. Case Study of American Healthways' Diabetes Disease Management Program

    PubMed Central

    Pope, James E.; Hudson, Laurel R.; Orr, Patty M.

    2005-01-01

    Disease management has been defined as a system of coordinated health care interventions and communications for populations with conditions in which patient self-care efforts are significant (Disease Management Association of America, 2005). The purpose of this article is to provide an overview of the diabetes disease management program offered by American Healthways (AMHC) and highlight recently reported results of this program (Villagra, 2004a; Espinet et al., 2005). PMID:17288077

  13. X-ray imaging in advanced studies of ophthalmic diseases

    SciTech Connect

    Antunes, Andrea; Safatle, Angelica M. V.; Barros, Paulo S. M.; Morelhao, Sergio L.

    2006-07-15

    Microscopic characterization of pathological tissues has one major intrinsic limitation, the small sampling areas with respect to the extension of the tissues. Mapping possible changes on vast tissues and correlating them with large ensembles of clinical cases is not a feasible procedure for studying most diseases, as for instance vision loss related diseases and, in particular, the cataract. Although intraocular lens implants are successful treatments, cataract still is a leading public-health issue that grows in importance as the population increases and life expectancy is extended worldwide. In this work we have exploited the radiation-tissue interaction properties of hard x-rays--very low absorption and scattering--to map distinct lesions on entire eye lenses. At the used synchrotron x-ray photon energy of 20 keV (wavelength {lambda}=0.062 nm), scattering and refraction are angular resolved effects. It allows the employed x-ray image technique to efficiently characterize two types of lesions in eye lenses under cataractogenesis: distributions of tiny scattering centers and extended areas of fiber cell compaction. The data collection procedure is relatively fast; allowing dozens of samples to be totally imaged (scattering, refraction, and mass absorption images) in a single day of synchrotron beam time. More than 60 cases of canine cataract, not correlated to specific causes, were investigated in this first application of x-rays to image entire lenses. Cortical opacity cases, or partial opacity, could be related to the presence of calcificated tissues at the cortical areas, clearly visible in the images, whose elemental contents were verified by micro x-ray fluorescence as very rich in calcium. Calcificated tissues were also observed at nuclear areas in some cases of hypermature cataract. Total opacity cases without distinguishable amount of scattering centers consist in 70% of the analyzed cases, where remarkable fissure marks owing to extended areas of fiber

  14. Pilot study of correlation of pulp stones with cardiovascular disease.

    PubMed

    Edds, A C; Walden, J E; Scheetz, J P; Goldsmith, L J; Drisko, C L; Eleazer, P D

    2005-07-01

    We propose that calcification of dental pulp may have a similar pathogenesis as calcified atheromas and could lead to use of routine dental radiographs as a rapid screening method for early identification of potential cardiovascular disease (CVD). Fifty-five dental patients ages 20 to 55 were chosen because pulp stones in pulpally noninflamed teeth were not expected in this age group. They completed a questionnaire regarding their CVD status and that of their parents and siblings. Entry criteria included at least one asymptomatic, minimally restored, noncarious molar and no history of gout, renal disease, or renal lithiasis. Patients' periapical radiographs of record were viewed to determine the presence of pulp stones. There was a significant relationship between pre-existing CVD and pulp stones (odds ratio of 4.4 with a 95% confidence interval of 1.1, 18.7), but no relationship was found for family history of CVD and pulp stones (odds ratio of 1.7 with a 95% confidence interval of 0.5, 5.5). Seventy-four percent (14/19) of patients with reported CVD had detectable pulp stones while only 39% (14/36) of patients without a history of CVD had pulp stones. This pilot study demonstrates that patients with CVD have an increased incidence of pulp stones in teeth with noninflamed pulps compared to patients with no history of CVD. No relationship was found between presence of pulp stones and family history of CVD. The findings suggest that dental radiographic determination of the presence or absence of pulp stones may have possibilities for use in CVD screening.

  15. Longitudinal study of viruses associated with canine infectious respiratory disease.

    PubMed

    Erles, Kerstin; Dubovi, Edward J; Brooks, Harriet W; Brownlie, Joe

    2004-10-01

    In this investigation a population of dogs at a rehoming center was monitored over a period of 2 years. Despite regular vaccination of incoming dogs against distemper, canine adenovirus type 2 (CAV-2), and canine parainfluenza virus (CPIV), respiratory disease was endemic. Tissue samples from the respiratory tract as well as paired serum samples were collected for analysis. The development of PCR assays for the detection of CPIV, canine adenovirus types 1 and 2, and canine herpesvirus (CHV) is described. Surprisingly, canine adenovirus was not detected in samples from this population, whereas 19.4% of tracheal and 10.4% of lung samples were positive for CPIV and 12.8% of tracheal and 9.6% of lung samples were positive for CHV. As reported previously, a novel canine respiratory coronavirus (CRCoV) was detected in this population (K. Erles, C. Toomey, H. W. Brooks, and J. Brownlie, Virology 310:216-223, 2003). Infections with CRCoV occurred mostly during the first week of a dog's stay at the kennel, whereas CPIV and CHV were detected at later time points. Furthermore, the evaluation of an enzyme-linked immunosorbent assay for detection of antibodies to CPIV and an immunofluorescence assay for detection of antibodies to CHV is described. This study shows that CPIV is present at kennels despite vaccination. In addition, other agents such as CHV and CRCoV may play a role in the pathogenesis of canine respiratory disease, whereas CAV-2 and canine distemper virus were not present in this population, indicating that their prevalence in the United Kingdom is low due to widespread vaccination of dogs.

  16. Longitudinal Study of Viruses Associated with Canine Infectious Respiratory Disease

    PubMed Central

    Erles, Kerstin; Dubovi, Edward J.; Brooks, Harriet W.; Brownlie, Joe

    2004-01-01

    In this investigation a population of dogs at a rehoming center was monitored over a period of 2 years. Despite regular vaccination of incoming dogs against distemper, canine adenovirus type 2 (CAV-2), and canine parainfluenza virus (CPIV), respiratory disease was endemic. Tissue samples from the respiratory tract as well as paired serum samples were collected for analysis. The development of PCR assays for the detection of CPIV, canine adenovirus types 1 and 2, and canine herpesvirus (CHV) is described. Surprisingly, canine adenovirus was not detected in samples from this population, whereas 19.4% of tracheal and 10.4% of lung samples were positive for CPIV and 12.8% of tracheal and 9.6% of lung samples were positive for CHV. As reported previously, a novel canine respiratory coronavirus (CRCoV) was detected in this population (K. Erles, C. Toomey, H. W. Brooks, and J. Brownlie, Virology 310:216-223, 2003). Infections with CRCoV occurred mostly during the first week of a dog's stay at the kennel, whereas CPIV and CHV were detected at later time points. Furthermore, the evaluation of an enzyme-linked immunosorbent assay for detection of antibodies to CPIV and an immunofluorescence assay for detection of antibodies to CHV is described. This study shows that CPIV is present at kennels despite vaccination. In addition, other agents such as CHV and CRCoV may play a role in the pathogenesis of canine respiratory disease, whereas CAV-2 and canine distemper virus were not present in this population, indicating that their prevalence in the United Kingdom is low due to widespread vaccination of dogs. PMID:15472304

  17. 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.

  18. Hypnosis in the treatment of Morgellons disease: a case study.

    PubMed

    Gartner, Ashley M; Dolan, Sara L; Stanford, Matthew S; Elkins, Gary R

    2011-04-01

    Morgellons Disease is a condition involving painful skin lesions, fibrous growths protruding from the skin, and subcutaneous stinging and burning sensations, along with symptoms of anxiety, depression, fatigue, and memory and attention deficits. The etiological and physiological bases of these symptoms are unclear, making the diagnosis controversial and challenging to treat. There are currently no established treatments for Morgellons Disease. The following case example depicts treatment of a woman with Morgellons Disease using hypnotherapy. Data from this case example suggest that hypnotherapy is a promising intervention for the physical and psychological symptoms associated with Morgellons Disease.

  19. Study Design and Outcomes of Korean Obstructive Lung Disease (KOLD) Cohort Study

    PubMed Central

    Park, Tai Sun; Lee, Jae Seung; Seo, Joon Beom; Hong, Yoonki; Yoo, Jung-Wan; Kang, Byung Ju; Lee, Sei Won; Oh, Yeon-Mok

    2014-01-01

    Background The Korean Obstructive Lung Disease (KOLD) Cohort Study is a prospective longitudinal study of patients with chronic obstructive pulmonary disease (COPD), asthma, or other unclassified obstructive lung diseases. It was designed to develop new classification models and biomarkers that predict clinically relevant outcomes for patients with obstructive lung diseases. Methods Patients over 18 years old who have chronic respiratory symptoms and airflow limitations or bronchial hyper-responsiveness were enrolled at 17 centers in South Korea. After a baseline visit, the subjects were followed up every 3 months for various assessments. Results From June 2005 to October 2013, a total of 477 subjects (433 [91%] males; 381 [80%] diagnosed with COPD) were enrolled. Analyses of the KOLD Cohort Study identified distinct phenotypes in patients with COPD, and predictors of therapeutic responses and exacerbations as well as the factors related to pulmonary hypertension in COPD. In addition, several genotypes were associated with radiological phenotypes and therapeutic responses among Korean COPD patients. Conclusion The KOLD Cohort Study is one of the leading long-term prospective longitudinal studies investigating heterogeneity of the COPD and is expected to provide new insights for pathogenesis and the long-term progression of COPD. PMID:24851130

  20. Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study.

    PubMed

    van der Laan, Sander W; Fall, Tove; Soumaré, Aicha; Teumer, Alexander; Sedaghat, Sanaz; Baumert, Jens; Zabaneh, Delilah; van Setten, Jessica; Isgum, Ivana; Galesloot, Tessel E; Arpegård, Johannes; Amouyel, Philippe; Trompet, Stella; Waldenberger, Melanie; Dörr, Marcus; Magnusson, Patrik K; Giedraitis, Vilmantas; Larsson, Anders; Morris, Andrew P; Felix, Janine F; Morrison, Alanna C; Franceschini, Nora; Bis, Joshua C; Kavousi, Maryam; O'Donnell, Christopher; Drenos, Fotios; Tragante, Vinicius; Munroe, Patricia B; Malik, Rainer; Dichgans, Martin; Worrall, Bradford B; Erdmann, Jeanette; Nelson, Christopher P; Samani, Nilesh J; Schunkert, Heribert; Marchini, Jonathan; Patel, Riyaz S; Hingorani, Aroon D; Lind, Lars; Pedersen, Nancy L; de Graaf, Jacqueline; Kiemeney, Lambertus A L M; Baumeister, Sebastian E; Franco, Oscar H; Hofman, Albert; Uitterlinden, André G; Koenig, Wolfgang; Meisinger, Christa; Peters, Annette; Thorand, Barbara; Jukema, J Wouter; Eriksen, Bjørn Odvar; Toft, Ingrid; Wilsgaard, Tom; Onland-Moret, N Charlotte; van der Schouw, Yvonne T; Debette, Stéphanie; Kumari, Meena; Svensson, Per; van der Harst, Pim; Kivimaki, Mika; Keating, Brendan J; Sattar, Naveed; Dehghan, Abbas; Reiner, Alex P; Ingelsson, Erik; den Ruijter, Hester M; de Bakker, Paul I W; Pasterkamp, Gerard; Ärnlöv, Johan; Holmes, Michael V; Asselbergs, Folkert W

    2016-08-30

    Epidemiological studies show that high circulating cystatin C is associated with risk of cardiovascular disease (CVD), independent of creatinine-based renal function measurements. It is unclear whether this relationship is causal, arises from residual confounding, and/or is a consequence of reverse causation. The aim of this study was to use Mendelian randomization to investigate whether cystatin C is causally related to CVD in the general population. We incorporated participant data from 16 prospective cohorts (n = 76,481) with 37,126 measures of cystatin C and added genetic data from 43 studies (n = 252,216) with 63,292 CVD events. We used the common variant rs911119 in CST3 as an instrumental variable to investigate the causal role of cystatin C in CVD, including coronary heart disease, ischemic stroke, and heart failure. Cystatin C concentrations were associated with CVD risk after adjusting for age, sex, and traditional risk factors (relative risk: 1.82 per doubling of cystatin C; 95% confidence interval [CI]: 1.56 to 2.13; p = 2.12 × 10(-14)). The minor allele of rs911119 was associated with decreased serum cystatin C (6.13% per allele; 95% CI: 5.75 to 6.50; p = 5.95 × 10(-211)), explaining 2.8% of the observed variation in cystatin C. Mendelian randomization analysis did not provide evidence for a causal role of cystatin C, with a causal relative risk for CVD of 1.00 per doubling cystatin C (95% CI: 0.82 to 1.22; p = 0.994), which was statistically different from the observational estimate (p = 1.6 × 10(-5)). A causal effect of cystatin C was not detected for any individual component of CVD. Mendelian randomization analyses did not support a causal role of cystatin C in the etiology of CVD. As such, therapeutics targeted at lowering circulating cystatin C are unlikely to be effective in preventing CVD. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  1. Association studies in late onset sporadic Alzheimer`s disease

    SciTech Connect

    Goate, A.M.; Lendon, C.; Talbot, C.

    1994-09-01

    Alzheimer`s disease (AD) is characterized by an adult onset progressive dementia and the presence of numerous plaques and tangles within the brain at autopsy. The senile plaques are composed of a proteinaceous core surrounded by dystrophic neurites. The major protein component of the core is {beta}-amyloid but antibodies to many other proteins bind to senile plaques, e.g., antibodies to apolioprotein E (ApoE) and to {alpha}1-antichymotrypsin (AACT). Genetic studies have implicated mutations within the {beta}-amyloid precursor protein gene as the cause of AD in a small number of early onset AD families. More recently, assocition studies in late onset AD have demonstrated a positive association between ApoE-{epsilon}4 and AD. We report evidence for a negative association between ApoE-{epsilon}2 and AD in a large sample of sporadic late onset AD cases and matched controls supporting the role of ApoE in the etiology of AD. Ninety-three patients with sporadic AD (average age = 75 years, s.d. 8 yrs.) and 67 normal controls from the same ethnic background (age = 77 yrs., s.d. 10 yrs.) were recruited through the patient registry of the Washington University Alzheimer`s Disease Research Center. We found a statistically significant increase in ApoE-{epsilon}4 allele frequency in patients compared with controls ({chi}{sup 2}=7.75, 1 d.f., one tailed p=0.0027) and a significant decrease in {epsilon}2 allele frequency (Fisher`s exact test, one tailed p=0.0048), whereas the decreased frequency of {epsilon}3 in the patient groups was not statistically significant. Allele {epsilon}2 conferred a strong protective effect in our sample, with the odds ratio for AD for subjects possessing this allele being 0.08 (85% confidence interval 0.01-0.69). Similar studies using a polymorphism within the AACT gene showed no association with alleles at this locus in the entire AD sample or in AD cases homozygous for ApoE-{epsilon}3.

  2. Association Between Retinopathy and Cardiovascular Disease in Patients with Chronic Kidney Disease (From the Chronic Renal Insufficiency Cohort [CRIC] Study)

    PubMed Central

    Grunwald, Juan E.; Ying, Gui-Shuang; Maguire, Maureen; Pistilli, Maxwell; Daniel, Ebenezer; Alexander, Judith; Whittock-Martin, Revell; Parker, Candace; Mohler, Emile; Chia-Mei Lo, Joan; Townsend, Raymond; Gadegbeku, Crystal Ann; Lash, James Phillip; Fink, Jeffrey Craig; Rahman, Mahboob; Feldman, Harold; Kusek, John Walter; Xie, Dawei; Coleman, Martha; Keane, Martin Gerard

    2012-01-01

    Patients with chronic kidney disease (CKD) experience co-morbid illneses including cardiovascular disease (CVD) and retinopathy. The purpose of this study was to assess the association between retinopathy and self reported CVD in a subgroup of the participants of the Chronic Renal Insufficiency Cohort (CRIC) study. In this observational, ancillary investigation, 2605 CRIC participants were invited to participate in this study, and non-mydriatic fundus photographs in both eyes were obtained in 1936 subjects. Photographs were reviewed in a masked fashion at a central photograph reading center. Presence and severity of retinopathy (diabetic, hypertensive or other) and vessel diameter caliber were assessed using standard protocols by trained graders masked to information about study participants. History of self-reported cardiovascular disease was obtained using a medical history questionnaire. Kidney function measurements, traditional and non-traditional risk factors for CVD were obtained from the CRIC study. Greater severity of retinopathy was associated with higher prevalence of any cardiovascular disease and this association persisted after adjustment for traditional risk factors for CVD. Presence of vascular abnormalities usually associated with hypertension was also associated with increased prevalence of CVD. We found a direct relationship between CVD prevalence and mean venular caliber. In conclusion, presence of retinopathy was associated with CVD, suggesting that retinovascular pathology may be indicative of macrovascular disease even after adjustment for renal dysfunction and traditional CVD risk factors. This would make assessment of retinal morphology a valuable tool in chronic kidney disease studies of CVD outcomes. PMID:22516527

  3. Massage Therapy for Lyme Disease Symptoms: a Prospective Case Study

    PubMed Central

    Thomason, Meghan J.; Moyer, Christopher A.

    2012-01-01

    Introduction To study the effects of massage therapy (MT) on Lyme disease (LD) symptoms and affect. Methods A 21-year-old female college student previously diagnosed with LD was recruited for a prospective case study that incorporated alternating periods of treatment and nontreatment across 65 days. Her self-reported symptoms of pain, fatigue, and impairment of concentration were assessed by means of a daily diary with corresponding visual analog scales. Immediate effects of MT on affect were assessed by completion of the Positive and Negative Affect Scales before and after each treatment session. Results LD symptoms decreased during treatment periods and increased during nontreatment periods. Positive affect was increased at every MT session. Conclusions MT is a promising treatment for the symptoms pain, fatigue, and impaired concentration associated with LD. In addition, MT reliably increased positive affect. Massage therapists should consider using light-to-medium pressure MT for treatment of persons who present with a similar pattern of LD symptoms, and further research with this population is warranted. PMID:23429967

  4. Parkinson’s Disease in Saudi Patients: A Genetic Study

    PubMed Central

    Al-Mubarak, Bashayer R.; Bohlega, Saeed A.; Alkhairallah, Thamer S.; Magrashi, Amna I.; AlTurki, Maha I.; Khalil, Dania S.; AlAbdulaziz, Basma S.; Abou Al-Shaar, Hussam; Mustafa, Abeer E.; Alyemni, Eman A.; Alsaffar, Bashayer A.; Tahir, Asma I.; Al Tassan, Nada A.

    2015-01-01

    Parkinson’s disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, most of the studies focusing on the genetic component of PD have been performed on American, European and Asian populations, whereas Arab populations (excluding North African Arabs), particularly Saudis remain to be explored. Here we investigated the genetic causes of PD in Saudis by recruiting 98 PD-cases (sporadic and familial) and screening them for potential pathogenic mutations in PD-established genes; SNCA, PARKIN, PINK1, PARK7/DJ1, LRRK2 and other PD-associated genes using direct sequencing. To our surprise, the screening revealed only three pathogenic point mutations; two in PINK1 and one in PARKIN. In addition to mutational analysis, CNV and cDNA analysis was performed on a subset of patients. Exon/intron dosage alterations in PARKIN were detected and confirmed in 2 cases. Our study suggests that mutations in the ORF of the screened genes are not a common cause of PD in Saudi population; however, these findings by no means exclude the possibility that other genetic events such as gene expression/dosage alteration may be more common nor does it eliminate the possibility of the involvement of novel genes. PMID:26274610

  5. Prospective study of phobic anxiety and risk of Parkinson's disease.

    PubMed

    Weisskopf, Marc G; Chen, Honglei; Schwarzschild, Michael A; Kawachi, Ichiro; Ascherio, Alberto

    2003-06-01

    Anxiety disorders are common in Parkinson's disease (PD). However, the risk of PD among people with anxiety has not been examined in a prospective cohort study. We examined this relation prospectively within the Health Professionals Follow-Up Study, a cohort of US male health professionals. In 1988, anxiety was assessed using the Crown-Crisp phobic anxiety index in 35,815 men without PD, stroke, or cancer at baseline. There were 189 incident cases of PD during 12 years of follow-up. After adjusting for age, smoking, and caffeine intake, the relative risk of PD among men with the highest level of anxiety (Crown-Crisp index scores of 4 and above) was 1.5 (95% CI = 1.0-2.1; P-trend = 0.01) compared to men with the lowest level of anxiety. This positive association persisted after excluding cases of PD with onset in the first 2 years of follow-up. Use of anxiolytic medication was also associated with an elevated risk of PD (RR= 1.6; 95% CI = 0.9-3.1), but adjusting for this potential confounder did not materially affect the association between anxiety and risk of PD. Our results suggest that anxiety is a risk factor for PD. Whether this association is causal or the result of shared underlying biology remains a question. Copyright 2003 Movement Disorder Society

  6. Sudden death in Parkinson's disease: a retrospective autopsy study.

    PubMed

    Matsumoto, Hideyuki; Sengoku, Renpei; Saito, Yuko; Kakuta, Yukio; Murayama, Shigeo; Imafuku, Ichiro

    2014-08-15

    The aim of this paper is to reveal the causes of death and to verify sudden death of Parkinson's disease (PD) in an autopsy study. We reviewed the clinical data and the causes of death in 16 PD patients who had postmortem examinations. Prior to autopsy, nine patients died of known causes: five patients died of aspiration pneumonia, two of myocardial infarction, one of asphyxia, and one of dilated cardiomyopathy. Autopsy confirmed that the putative causes of death were compatible with the pathological ones. The remaining seven patients died suddenly of unknown causes. Autopsy revealed that the causes of death were asphyxia in two patients and perforation of a duodenal ulcer in one patient. Autopsy did not determine the causes of unknown death in the remaining four patients. Consequently, autopsy revealed that eight patients died of swallowing problems such as aspiration pneumonia and asphyxia, four of sudden death, three of cardiac problems, and one of a gastrointestinal problem. Although there was a bias that all patients had a postmortem examination, our study revealed that several PD patients died of sudden death without any satisfactory causes of death determined even by autopsy. Therefore, we propose that a non-negligible number of PD patients die of sudden death. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Optimization of Inflammatory Bowel Disease Cohort Studies in Asia

    PubMed Central

    2015-01-01

    With the incidence of inflammatory bowel disease (IBD) increasing rapidly in many Asian countries, including Hong Kong, it is important that patient characteristics are better understood. For example, are the phenotypes, behaviors, complications, and even treatment responses found in Asian patients similar to those of their Western counterparts? To formally address these questions, a properly designed local cohort study is needed. Whilst IBD is still relatively uncommon in Asia, the establishment of a local IBD registry will significantly contribute to the answering of these questions. The Hong Kong IBD registry was established to fill the gap in the understanding of IBD patients, and to foster research into IBD in Hong Kong. The Hong Kong IBD registry is a territory-wide registry that includes all public hospitals in Hong Kong. We included all IBD patients who were currently receiving medical care at these hospitals. With the help of the central computer medical record system of the Hospital Authority of Hong Kong, all clinical events, medications usage, endoscopy records, and laboratory results of patients in the registry were captured. Apart from data collection, the registry is also establishing a bio-specimen bank of blood and stool samples of IBD patients for future research. The IBD registry is a very useful platform for population-based studies on IBD in Asia. PMID:26130994

  8. Optimization of Inflammatory Bowel Disease Cohort Studies in Asia.

    PubMed

    Leung, Wai K

    2015-07-01

    With the incidence of inflammatory bowel disease (IBD) increasing rapidly in many Asian countries, including Hong Kong, it is important that patient characteristics are better understood. For example, are the phenotypes, behaviors, complications, and even treatment responses found in Asian patients similar to those of their Western counterparts? To formally address these questions, a properly designed local cohort study is needed. Whilst IBD is still relatively uncommon in Asia, the establishment of a local IBD registry will significantly contribute to the answering of these questions. The Hong Kong IBD registry was established to fill the gap in the understanding of IBD patients, and to foster research into IBD in Hong Kong. The Hong Kong IBD registry is a territory-wide registry that includes all public hospitals in Hong Kong. We included all IBD patients who were currently receiving medical care at these hospitals. With the help of the central computer medical record system of the Hospital Authority of Hong Kong, all clinical events, medications usage, endoscopy records, and laboratory results of patients in the registry were captured. Apart from data collection, the registry is also establishing a bio-specimen bank of blood and stool samples of IBD patients for future research. The IBD registry is a very useful platform for population-based studies on IBD in Asia.

  9. Ensemble transcript interaction networks: a case study on Alzheimer's disease.

    PubMed

    Armañanzas, Rubén; Larrañaga, Pedro; Bielza, Concha

    2012-10-01

    Systems biology techniques are a topic of recent interest within the neurological field. Computational intelligence (CI) addresses this holistic perspective by means of consensus or ensemble techniques ultimately capable of uncovering new and relevant findings. In this paper, we propose the application of a CI approach based on ensemble Bayesian network classifiers and multivariate feature subset selection to induce probabilistic dependences that could match or unveil biological relationships. The research focuses on the analysis of high-throughput Alzheimer's disease (AD) transcript profiling. The analysis is conducted from two perspectives. First, we compare the expression profiles of hippocampus subregion entorhinal cortex (EC) samples of AD patients and controls. Second, we use the ensemble approach to study four types of samples: EC and dentate gyrus (DG) samples from both patients and controls. Results disclose transcript interaction networks with remarkable structures and genes not directly related to AD by previous studies. The ensemble is able to identify a variety of transcripts that play key roles in other neurological pathologies. Classical statistical assessment by means of non-parametric tests confirms the relevance of the majority of the transcripts. The ensemble approach pinpoints key metabolic mechanisms that could lead to new findings in the pathogenesis and development of AD.

  10. Tumor diagnosis preceding Parkinson's disease: a case-control study.

    PubMed

    D'Amelio, Marco; Ragonese, Paolo; Morgante, Letterio; Epifanio, Antonio; Callari, Graziella; Salemi, Giuseppe; Savettieri, Giovanni

    2004-07-01

    Lower cancer risk in Parkinson's disease (PD) patients compared to the general population has been reported. However, most of the studies were based on death certificates. We designed a case-control study to estimate the association of tumor preceding PD onset and PD. PD patients were matched by age and gender to PD-free individuals, randomly selected from the municipalities of residence of cases. Occurrence of tumors preceding PD onset was assessed through a structured questionnaire. Neoplasms were categorized as benign, malignant, or of uncertain classification, and endocrine-related or not. Odds ratios (OR) were calculated using conditional logistic regression and adjusted for tumor categories and risk factors. We included 222 PD patients. Frequency of cancer was 6.8% for cases, 12.6% for controls. PD patients had a decreased risk for neoplasms (adjusted OR, 0.4; 95% confidence interval [CI], 0.2-0.7). Risk was reduced only for women (adjusted OR, 0.3; 95% CI, 0.1-0.7). PD patients had a decreased risk both for malignant (adjusted OR, 0.6; 95% CI, 0.1-2.5) and nonmalignant neoplasms (adjusted OR, 0.3; 95% CI, 0.1-0.7). Still, risk was decreased for endocrine-related tumors (adjusted OR, 0.3; 95% CI, 0.1-0.9) and non-endocrine-related tumors (adjusted OR, 0.4; 95% CI, 0.1-0.9). Our study confirms the inverse association between PD and neoplasms reported in previous epidemiologic studies.

  11. The Degree of Disease Knowledge in Patients with Gastroesophageal Reflux Disease: A Multi-center Prospective Study in Korea

    PubMed Central

    Jeong, In Du; Park, Moo In; Kim, Sung Eun; Kim, Beom Jin; Kim, Sang Wook; Kim, Jie-Hyun; Sung, Hye Young; Oh, Tae-Hoon; Kim, Yeon Soo

    2017-01-01

    Background/Aims Patient education has been shown to be beneficial in several diseases. To properly educate patients with gastroesophageal reflux disease (GERD), it is necessary to understand how much they already know about their disease. However, no study has examined the degree of disease knowledge in Korean patients with GERD. Therefore, we conducted this study to assess the degree of knowledge in such patients. Methods This multicenter prospective study was conducted from January 2014 to January 2015. A total of 746 patients (mean age, 52 years; 57.6% female) were enrolled from 7 hospitals in Korea. Inclusion criteria were diagnosis of GERD and ability to properly complete a survey. Degree of disease knowledge was assessed using the translated, validated Korean Urnes questionnaire, which consists of 22 items related to GERD. Results Mean percentage of correct answers was 46.3% and mean GERD knowledge score was 9.6. Degree of knowledge (mean percentage of correct answers) regarding etiology, prognosis, and treatment of GERD were 49.5%, 36.7%, and 37.5%, respectively. Degree of disease knowledge differed significantly according to age (P < 0.001), education (P < 0.001), income (P = 0.028), and occupation (P < 0.001). In multivariate analysis, using multiple logistic regression, the higher knowledge score group tended to have higher education and professional occupation. Conclusions The surveyed Korean patients had relatively low disease knowledge, suggesting that a GERD educational program may be beneficial in Korea. Formulation of a program is underway. PMID:28478662

  12. Clear Speech Variants: An Acoustic Study in Parkinson's Disease

    ERIC Educational Resources Information Center

    Lam, Jennifer; Tjaden, Kris

    2016-01-01

    Purpose: The authors investigated how different variants of clear speech affect segmental and suprasegmental acoustic measures of speech in speakers with Parkinson's disease and a healthy control group. Method: A total of 14 participants with Parkinson's disease and 14 control participants served as speakers. Each speaker produced 18 different…

  13. Clear Speech Variants: An Acoustic Study in Parkinson's Disease

    ERIC Educational Resources Information Center

    Lam, Jennifer; Tjaden, Kris

    2016-01-01

    Purpose: The authors investigated how different variants of clear speech affect segmental and suprasegmental acoustic measures of speech in speakers with Parkinson's disease and a healthy control group. Method: A total of 14 participants with Parkinson's disease and 14 control participants served as speakers. Each speaker produced 18 different…

  14. Etiological study of the short needle disease of pine

    Treesearch

    Francis A. Wood; Stanley P. Pennypacker

    1976-01-01

    The short needle disease of pines consists of dwarfing, crooking, twisting, and excessive elongation of random needles, failure of buds to develop, reduced lateral branch development and the premature casting of needles. The disease was initially associated with a power plant source of air pollution in the eastern United States during 1969; at that time the cause of...

  15. Microbleeds, Mortality, and Stroke in Alzheimer Disease: The MISTRAL Study.

    PubMed

    Benedictus, Marije R; Prins, Niels D; Goos, Jeroen D C; Scheltens, Philip; Barkhof, Frederik; van der Flier, Wiesje M

    2015-05-01

    Microbleeds are more prevalent in patients with Alzheimer disease (AD) compared with the general elderly population. In addition, microbleeds have been found to predict mortality in AD. To investigate whether microbleeds in AD increase the risk for mortality, stroke (including intracerebral hemorrhage), and cardiovascular events. The MISTRAL (do MIcrobleeds predict STRoke in ALzheimer's disease) Study is a longitudinal cohort study within the memory clinic-based Amsterdam Dementia Cohort. We selected all patients with AD with a baseline visit between January 2, 2002, and December 16, 2009, and microbleeds (n = 111) and matched those (1:2) for age, sex, and magnetic resonance imaging scanner to 222 patients with AD without microbleeds. After a minimal follow-up of 3 years, information on all-cause mortality, stroke-related mortality, and cardiovascular mortality was obtained between November 1, 2012, and May 1, 2014. In addition, we obtained information on the occurrence of incident stroke or transient ischemic attack, cardiovascular events, and nursing home admittance. Stroke-related mortality, incident stroke, and intracerebral hemorrhage. Patients had a mean (SD) age of 71.2 (7.8) years and 127 (42%) were female. Compared with having no microbleeds, microbleeds in lobar locations were associated with an increased risk for stroke-related mortality (hazard ratio [HR], 33.9; 95% CI, 2.5-461.7), whereas nonlobar microbleeds were associated with an increased risk for cardiovascular mortality (HR, 12.0; 95% CI, 3.2-44.7). In addition, lobar microbleeds were associated with an increased risk for incident stroke (HR, 3.8; 95% CI, 1.5-10.1) and nonlobar microbleeds with an increased risk for cardiovascular events (HR, 6.2; 95% CI, 1.5-25.0). Even higher risks for incident stroke and cardiovascular events were found in patients using antithrombotic medication. All 5 patients with an intracerebral hemorrhage had lobar microbleeds at baseline; 4 of them used antithrombotics

  16. 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 Central

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

    2017-01-01

    Summary 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. PMID:28357175

  17. 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

  18. The CREST-E study of creatine for Huntington disease

    PubMed Central

    Schifitto, Giovanni; Oakes, David; Bredlau, Amy-Lee; Meyers, Catherine M.; Nahin, Richard; Rosas, Herminia Diana

    2017-01-01

    Objective: To investigate whether creatine administration could slow progressive functional decline in adults with early symptoms of Huntington disease. Methods: We conducted a multicenter, randomized, double-blind, placebo-controlled study of up to 40 g daily of creatine monohydrate in participants with stage I and II HD treated for up to 48 months. The primary outcome measure was the rate of change in total functional capacity (TFC) between baseline and end of follow-up. Secondary outcome measures included changes in additional clinical scores, tolerability, and quality of life. Safety was assessed by adverse events and laboratory studies. Results: At 46 sites in North America, Australia, and New Zealand, 553 participants were randomized to creatine (275) or placebo (278). The trial was designed to enroll 650 patients, but was halted for futility after the first interim analysis. The estimated rates of decline in the primary outcome measure (TFC) were 0.82 points per year for participants on creatine, 0.70 points per year for participants on placebo, favoring placebo (nominal 95% confidence limits −0.11 to 0.35). Adverse events, mainly gastrointestinal, were significantly more common in participants on creatine. Serious adverse events, including deaths, were more frequent in the placebo group. Subgroup analysis suggested that men and women may respond differently to creatine treatment. Conclusions: Our data do not support the use of creatine treatment for delaying functional decline in early manifest HD. Clinicaltrials.gov identifier: NCT00712426. Classification of evidence: This study provides Class II evidence that for patients with early symptomatic HD, creatine monohydrate is not beneficial for slowing functional decline. PMID:28701493

  19. Imaging prodromal Parkinson disease: the Parkinson Associated Risk Syndrome Study.

    PubMed

    Jennings, Danna; Siderowf, Andrew; Stern, Matthew; Seibyl, John; Eberly, Shirley; Oakes, David; Marek, Kenneth

    2014-11-04

    The purpose of this study is to evaluate the relative risk of abnormal dopamine transporter (DAT) imaging for subjects with and without hyposmia and the feasibility of acquiring a large, community-based, 2-tiered biomarker assessment strategy to detect prodromal Parkinson disease (PD). In this observational study, individuals without a diagnosis of PD, recruited through 16 movement disorder clinics, underwent tier 1 assessments (olfactory testing, questionnaires). Tier 2 assessments (neurologic examination, DAT imaging, and other biomarker assessments) were completed by 303 subjects. The main outcome of the study is to compare age-expected [(123)I]β-CIT striatal binding ratio in hyposmic and normosmic subjects. Tier 1 assessments were mailed to 9,398 eligible subjects and returned by 4,999; 669 were hyposmic. Three hundred three subjects (203 hyposmic, 100 normosmic) completed baseline evaluations. DAT deficit was present in 11% of hyposmic subjects compared with 1% of normosmic subjects. Multiple logistic regression demonstrates hyposmia (odds ratio [OR] 12.4; 95% confidence interval [CI] 1.6, 96.1), male sex (OR 5.5; 95% CI 1.7, 17.2), and constipation (OR 4.3; 95% CI 1.6, 11.6) as factors predictive of DAT deficit. Combining multiple factors (hyposmia, male sex, and constipation) increased the percentage of subjects with a DAT deficit to >40%. Subjects with DAT deficit who do not meet criteria for a diagnosis of PD can be identified by olfactory testing. Sequential biomarker assessment may identify those at risk of PD. Selecting hyposmic individuals enriches the population for DAT deficit, and combining hyposmia with other potential risk factors (male sex, constipation) increases the percentage of subjects with a DAT deficit compatible with prodromal PD. © 2014 American Academy of Neurology.

  20. Outcomes of borderline rheumatic heart disease: A prospective cohort study.

    PubMed

    Bertaina, Geneviève; Rouchon, Bernard; Huon, Bertrand; Guillot, Nina; Robillard, Corinne; Noël, Baptiste; Nadra, Marie; Tribouilloy, Christophe; Marijon, Eloi; Jouven, Xavier; Mirabel, Mariana

    2017-02-01

    The advent of systematic screening for rheumatic heart disease (RHD) by echocardiography in endemic regions has led to a new entity: borderline RHD. The pathogenicity and natural history of borderline RHD needs to be addressed. The aim of this study was to assess the outcomes of children detected by echocardiography as having borderline RHD. Schoolchildren in 4th grade (i.e., aged 9-10years) who were prospectively echo-screened for RHD (2012-2014) in Nouméa, New Caledonia, were asked to participate. Children with borderline RHD according to consistent independent review by two cardiologists were included and followed-up in 2015. Among the 8684 schoolchildren screened, 49 were diagnosed with borderline RHD according to the Cardiologist clinically involved in the child's management plan. After independent review by two cardiologists, 25 children were consistently diagnosed with borderline RHD and included in the follow-up study. Overall, inter-observer agreement was moderate with diagnostic kappa values of 0.63 (95% CI 0.45-0.78). After a median follow-up of 23months (IQR (20.5-33.0), 15 children (60.0%) had stability of valvular lesions, 8 (32.0%) had normal findings according to the WHF criteria. Two children (8.0%) had definite RHD on the follow-up echocardiogram, but no clinical events or audible pathological murmur during the study period. No factor could be identified as prognostic of either stability or progression. Borderline RHD diagnosed by systematic screening in high-risk populations remains mostly unchanged at 2years follow-up. Diagnosis of borderline RHD may require two reviewers for consistency. Copyright © 2016. Published by Elsevier Ireland Ltd.

  1. Regenerative Therapies for Equine Degenerative Joint Disease: A Preliminary Study

    PubMed Central

    Broeckx, Sarah; Zimmerman, Marieke; Crocetti, Sara; Suls, Marc; Mariën, Tom; Ferguson, Stephen J.; Chiers, Koen; Duchateau, Luc; Franco-Obregón, Alfredo

    2014-01-01

    Degenerative joint disease (DJD) is a major cause of reduced athletic function and retirement in equine performers. For this reason, regenerative therapies for DJD have gained increasing interest. Platelet-rich plasma (PRP) and mesenchymal stem cells (MSCs) were isolated from a 6-year-old donor horse. MSCs were either used in their native state or after chondrogenic induction. In an initial study, 20 horses with naturally occurring DJD in the fetlock joint were divided in 4 groups and injected with the following: 1) PRP; 2) MSCs; 3) MSCs and PRP; or 4) chondrogenic induced MSCs and PRP. The horses were then evaluated by means of a clinical scoring system after 6 weeks (T1), 12 weeks (T2), 6 months (T3) and 12 months (T4) post injection. In a second study, 30 horses with the same medical background were randomly assigned to one of the two combination therapies and evaluated at T1. The protein expression profile of native MSCs was found to be negative for major histocompatibility (MHC) II and p63, low in MHC I and positive for Ki67, collagen type II (Col II) and Vimentin. Chondrogenic induction resulted in increased mRNA expression of aggrecan, Col II and cartilage oligomeric matrix protein (COMP) as well as in increased protein expression of p63 and glycosaminoglycan, but in decreased protein expression of Ki67. The combined use of PRP and MSCs significantly improved the functionality and sustainability of damaged joints from 6 weeks until 12 months after treatment, compared to PRP treatment alone. The highest short-term clinical evolution scores were obtained with chondrogenic induced MSCs and PRP. This study reports successful in vitro chondrogenic induction of equine MSCs. In vivo application of (induced) MSCs together with PRP in horses suffering from DJD in the fetlock joint resulted in a significant clinical improvement until 12 months after treatment. PMID:24465787

  2. Thyroid function and ischemic heart disease: a Mendelian randomization study.

    PubMed

    Zhao, Jie V; Schooling, C Mary

    2017-08-17

    To clarify the role of thyroid function in ischemic heart disease (IHD) we assessed IHD risk and risk factors according to genetically predicted thyroid stimulating hormone (TSH), free thyroxine (FT4) and thyroid peroxidase antibody (TPOAb) positivity. Separate-sample instrumental variable analysis with genetic instruments (Mendelian randomization) was used in an extensively genotyped case (n = 64,374)-control (n = 130,681) study, CARDIoGRAMplusC4D. Associations with lipids, diabetes and adiposity were assessed using the Global Lipids Genetics Consortium Results (n = 196,475), the DIAbetes Genetics Replication And Meta-analysis case (n = 34,380)-control (n = 114,981) study, and the Genetic Investigation of ANthropometric Traits (body mass index in 152,893 men and 171,977 women, waist-hip ratio in 93,480 men and 116,741 women). Genetically predicted thyroid function was not associated with IHD (odds ratio (OR) per standard deviation for TSH 1.05, 95% confidence interval (CI) 0.97 to 1.12; for FT4 1.01, 95% CI 0.91 to 1.12; for TPOAb positivity 1.10, 95% CI 0.83 to 1.46) or after Bonferroni correction with risk factors, except for an inverse association of FT4 with low-density lipoprotein-cholesterol. The associations were generally robust to sensitivity analyses using a weighted median method and MR Egger. This novel study provides little indication that TSH, FT4 or TPOAb positivity affects IHD, despite potential effects on its risk factors.

  3. 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

  4. Detection of dermatophytes in human nail and skin dust produced during podiatric treatments in people without typical clinical signs of mycoses.

    PubMed

    Nowicka, Danuta; Nawrot, Urszula; Włodarczyk, Katarzyna; Pajączkowska, Magdalena; Patrzałek, Anna; Pęcak, Anna; Mozdyniewicz, Paulina; Fleischer, Małgorzata

    2016-06-01

    Pedicures are the most common cosmetic foot treatment. Many pedicurists and podiatrists suffer from respiratory infections and diseases such as asthma, sinusitis, chronic cough and bronchitis. Skin and nail dust may play an important role in the development of occupational diseases and the transmission of mycosis to other clients. To examine the presence of dermatophytes in nail and skin dust produced during podiatric treatments of people without typical symptoms of mycosis and to assess the epidemiological hazards of tinea pedis for podiatrists as well as other clients. Seventy-seven samples underwent direct microscopy and culture. The results of direct microscopy were positive in 28/77 samples (36.36%) and doubtful in 3/77 (3.9%). Fungi were cultured from 36/77 samples (46.75%), including 8/77 (10.3%) positive for dermatophytes (Trichophyton rubrum-6 isolates and Trichophyton mentagrophytes-2). Material collected during podiatric treatments is potentially infected by pathogenic fungi; thus, there is a need to protect both workers who perform such treatments, as well as other clients, to prevent the transmission of pathogens in the Salon environment. Exposure to this occupational hazard may increase not only the risk of respiratory infections but also increase asthmatic or allergic reactions to Trichophyton.

  5. Dense Deposit Disease in Korean Children: A Multicenter Clinicopathologic Study

    PubMed Central

    Park, Se Jin; Kim, Yong-Jin; Ha, Tae-Sun; Lim, Beom Jin; Jeong, Hyeon Joo; Park, Yong Hoon; Lee, Dae Yeol; Kim, Pyung Kil; Kim, Kyo Sun; Chung, Woo Yeong

    2012-01-01

    The purpose of this study was to investigate the clinical, laboratory, and pathologic characteristics of dense deposit disease (DDD) in Korean children and to determine whether these characteristics differ between Korean and American children with DDD. In 2010, we sent a structured protocol about DDD to pediatric nephrologists throughout Korea. The data collected were compared with previously published data on 14 American children with DDD. Korean children had lower 24-hr urine protein excretion and higher serum albumin levels than American children. The light microscopic findings revealed that a higher percentage of Korean children had membranoproliferative glomerulonephritis patterns (Korean, 77.8%; American, 28.6%, P = 0.036), whereas a higher percentage of American children had crescents (Korean, 0%; American, 78.6%, P < 0.001). The findings from the electron microscopy revealed that Korean children were more likely to have segmental electron dense deposits in the lamina densa of the glomerular basement membrane (Korean, 100%; American, 28.6%, P = 0.002); mesangial deposit was more frequent in American children (Korean, 66.7%; American, 100%, P = 0.047). The histological findings revealed that Korean children with DDD were more likely to show membranoproliferative glomerulonephritis patterns than American children. The degree of proteinuria and hypoalbuminemia was milder in Korean children than American children. PMID:23091320

  6. Metabolic Bone Disease in Viral Cirrhosis: A Prospective Study

    PubMed Central

    Goubraim, Rabia; Kabbaj, Nawal; Salihoun, Mouna; Chaoui, Zakia; Nya, M'Hamed; Amrani, Naima

    2013-01-01

    Background/Aim. Metabolic Bone disorders are well-recognized extrahepatic complications of cirrhosis. The aim was to report their prevalence and the associated factors to their development in patients with viral cirrhosis. Patients and Methods. All consecutive patients with viral cirrhosis were prospectively enrolled. Parathyroid hormone, 25-hydroxyvitamin D, liver function, and phosphocalcic tests were measured in all patients. Bone mineral density was measured at the lumbar spine and total hip by dual-energy X-ray absorptiometry. Data were analyzed using SPSS software. Results. Forty-six cirrhotic patients were included with hepatitis C (87%) and hepatitis B (13%). The Child-Pugh score was grade A in 87% of cases and grade B in 13%. Thirty-seven patients had decreased bone mineral density with osteopenia in 24 patients and osteoporosis in 13 patients. Decreased 25-hydroxyvitamin D was found in 95.6% of cases. Bone disorders were significantly more frequent in old patients with low body mass index, long duration of liver disease, and low 25-hydroxyvitamin D level. None of these factors was an independent factor associated with bone disorders. Conclusion. Our study revealed a high prevalence of metabolic bone disorders among viral cirrhotic patients. Consequently, bone mineral density assessment should be performed systematically in all cirrhotic patients. PMID:27398385

  7. Segmentation and quantification for Alzheimer's disease (AD): a preliminary study

    NASA Astrophysics Data System (ADS)

    Lei, Tianhu; Udupa, Jayaram K.; Zhuge, Ying; Moonis, Gul; Clark, Christopher

    2003-05-01

    Alzheimer's is a progressive brain disease and is clinically characterized by cognitive symptoms that, in combination with behavioral disturbances, significantly interfere with activities of daily living. The purpose of this study is to investigate the possibility of developing volumetric measures of the structural damage and atrophy of brain derived from multiprotocol MR imaging. Our approach first applies intensity inhomogeneity correction and intensity standardization to PD and T2 weighted MR images to create base images for quantitative image analysis. Then, vectorial scale-based fuzzy connectedness segmentation (VSFCS) and morphological operations are applied to the base images to extract masks of cerebrospinal fluid (CSF), grey matter (GM), and white matter (WM), and further to create a clean and accurate intracranial (IC) mask. After separating CSF from brain parenchyma (BP), VSFCS is applied to BP (PD and T2) images to generate pure GM and WM masks, and then subtracting these pure from the BP mask to detect AD lesions. This method was applied to a set of conventional PD and T2 weighted MR images that were obtained from 5 patients with probable AD and 5 healthy normal control subjects. The segmented images of individual brain tissue regions (CSF, GM, WM, and AD lesion) are consistent with a Neuroradiologist's examination. The quantitative analysis shows that patients with AD have more atrophy. The mean value of the volume of brain parenchyma of patients with AD is about 10% less than that of healthy controls.

  8. Lymphoproliferative disease in antibody deficiency: a multi-centre study

    PubMed Central

    GOMPELS, M M; HODGES, E; LOCK, R J; ANGUS, B; WHITE, H; LARKIN, A; CHAPEL, H M; SPICKETT, G P; MISBAH, S A; SMITH, J L

    2003-01-01

    We have undertaken a retrospective study of antibody deficient patients, with and without lymphoma, and assessed the ability of specific polymerase chain reaction (PCR) primers to determine if the detection of clonal lymphocyte populations correlates with clinical and immunohistochemical diagnosis of lymphoma. We identified 158 cases with antibody deficiency presenting during the past 20 years. Paraffin-embedded biopsy specimens or slides were available for analysis in a cohort of 34 patients. Of these patients, 29 had common variable immunodeficiency, one X-linked agammaglobulinaemia, one X-linked immunoglobulin deficiency of uncertain cause and three isolated IgG subclass deficiency. We have confirmed that lymphoma in antibody deficiency is predominantly B cell in origin. Clonal lymphocyte populations were demonstrated in biopsies irrespective of histology (16/19 with lymphoma and 11/15 without). Isolated evidence of clonality in biopsy material is therefore an insufficient diagnostic criterion to determine malignancy. Furthermore, our data suggest that clonal expansions are rarely the result of Epstein–Barr virus-driven disease. PMID:14616793

  9. Cognitive neuroscience studies of semantic memory in Alzheimer's disease.

    PubMed

    Chertkow, Howard; Whatmough, Christine; Saumier, Daniel; Duong, Anh

    2008-01-01

    Semantic memory is the component of long-term memory that stores our concepts about the world. The disruption of semantic memory as a result of brain damage may have profound negative consequences on an individual's ability to name objects and process concepts. This can be disrupted as a result of many forms of brain damage, particularly Alzheimer's disease (AD). The current paper reviews research demonstrating that semantics deteriorates early in AD, particularly on effortful semantic tasks. There is a "category effect", meaning that AD preferentially affects concepts dealing with living things and abstract concepts compared to non-living objects and verbs/actions. While this pattern of deterioration, specific for AD, may reflect a breakdown within a distributed semantic system (where living things are distinguished by a high rate of inter-correlations between concepts or by a particular mode of being learned), it is equally possible that there is a regional distribution of semantic knowledge, with living things preferentially involving left temporal regions which become damaged early on in AD. Evidence from patients with strokes and semantic dementia, as well as activation studies in normal individuals, implicates the left posterior temporal region in semantic processing for pictures, abstract words, and concrete words. AD individuals, who are impaired in a variety of semantic tasks, show functional deficits in this area, and fail to activate it normally.

  10. Secondhand Smoke and Periodontal Disease: Atherosclerosis Risk in Communities Study

    PubMed Central

    Slade, Gary D.; Beck, James D.; Ágústsdóttir, Helga

    2011-01-01

    Objectives. We investigated the relationship between secondhand smoke and periodontal disease in nonsmokers. Methods. We undertook a cross-sectional analysis of the Atherosclerosis Risk in Communities study with 2739 lifetime nonsmokers aged 53–74 years, unexposed to other sources of tobacco, who received a complete periodontal examination at visit 4. Exposure was reported as average hours per week in close contact with a smoker in the preceding year. We defined severe periodontitis as 5 or more periodontal sites with probing pocket depth of 5 millimeters or more and clinical attachment levels of 3 millimeters or more in those sites. Other outcomes were extent of periodontal probing depths of 4 millimeters or more and extent of clinical attachment levels of 3 millimeters or more. Results. In a binary logistic regression model, adjusted odds of severe periodontitis for those exposed to secondhand smoke 1 to 25 hours per week increased 29% (95% confidence interval = 1.0, 1.7); for those exposed to secondhand smoke 26 hours per week, the odds were twice as high (95% confidence interval = 1.2, 3.4) as for those who were unexposed. Conclusions. Exposure to secondhand smoke and severe periodontitis among nonsmokers had a dose-dependent relationship. PMID:21551377

  11. Histopathologic reproducibility of thyroid disease in an epidemiologic study

    SciTech Connect

    Ron, E.; Griffel, B.; Liban, E.; Modan, B.

    1986-03-01

    An investigation of the long-term effects of childhood scalp irradiation demonstrated a significantly increased risk of thyroid tumors in the irradiated population. Because of the complexity of thyroid cancer diagnosis, a histopathologic slide review of 59 of the 68 patients (irradiated and nonirradiated) with thyroid disease was undertaken. The review revealed 90% agreement (kappa = +0.85, P less than 0.01) between the original and review diagnosis. Four of 27 cases previously diagnosed as malignant were reclassified as benign, yielding a cancer misdiagnosis rate of 14.8%. All four of the misdiagnosed cancers were of follicular or mixed papillary-follicular type. As a result of the histologic review, the ratio of malignant to benign tumors decreased from 2.55 to 1.75. Since disagreement in diagnosis was similar in the irradiated and nonirradiated groups, the relative risk of radiation-associated neoplasms did not change substantially. The histopathologic review shows that although there were some problems in diagnostic reproducibility, they were not statistically significant and did not alter our previous conclusions regarding radiation exposure. However, a 15% reduction in the number of malignancies might affect epidemiologic studies with an external comparison as well as geographic or temporal comparisons.

  12. Smoking, the environment and meningococcal disease: a case control study.

    PubMed Central

    Stanwell-Smith, R. E.; Stuart, J. M.; Hughes, A. O.; Robinson, P.; Griffin, M. B.; Cartwright, K.

    1994-01-01

    This case control study investigated environmental factors in 74 confirmed cases of meningococcal disease (MD). In children aged under 5, passive smoking in the home (30 or more cigarettes daily) was associated with an odds ratio (OR) of 7.5 (95% confidence interval (CI) 1.46-38.66). ORs increased both with the numbers of cigarettes smoked and with the number of smokers in the household, suggesting a dose-response relationship. MD in this age group was also significantly associated with household overcrowding (more than 1.5 persons per room) (OR 6.0, 95% CI 1.10-32.8), with kisses on the mouth with 4 or more contacts in the previous 2 weeks (OR 2.46, 95% CI 1.09-5.56), with exposure to dust from plaster, brick or stone in the previous 2 weeks (OR 2.24, 95% CI 1.07-4.65); and with changes in residence (OR 3.0, 95% CI 1.0-8.99), marital arguments (OR 3.0, 95% CI 1.26-7.17) and legal disputes in the previous 6 months (OR 3.10, 95% CI 1.24-7.78). These associations were independent of social class. Public health measures to lower the prevalence of cigarette smoking by parents of young children may reduce the incidence of MD. The influence of building dust and stressful life events merits further investigation. PMID:8150006

  13. Epigenetics and ocular diseases: from basic biology to clinical study.

    PubMed

    Yan, Biao; Yao, Jin; Tao, Zhi-Fu; Jiang, Qin

    2014-07-01

    Epigenetics is an emerging field in ophthalmology and has opened a new avenue for understanding ocular development and ocular diseases related to aging and environment. Epigenetic mechanisms, including DNA methylation, histone modifications, chromatin remodeling, and deployment of non-coding RNAs, result in the heritable silencing of gene expression without any change in DNA sequence. Accumulating evidence suggests a potential link between gene expression, chromatin structure, non-coding RNAs, and cellular differentiation during ocular development. Disruption of the balance of epigenetic networks could become the etiology of several ocular diseases. Here, we summarized the current knowledge about epigenetic regulatory mechanisms in ocular development and diseases.

  14. [Berger's disease. Study of eleven cases (author's transl)].

    PubMed

    García García, L; Giménez Llort, A; Camacho Díaz, J A; Cusí Sánchez, M V; López Cacho, F

    1982-03-01

    Among 39 patients with recurrent hematuria, 11 accomplished criteria of Berger's disease. The frequent association between recurrent hematuria and upper respiratory tract infections as well as constant elevation of serum IgA are emphasized. Their finding as well as the deposition of IgA on the mesangium and C'3 without C1q and C'4 suggest an alternative activation of the complement system which could explain the role of the IgA in the pathogenesis of Berger's disease. The disease can begin as acute glomerulonephritis and occasionally as a nephrotic syndrome, and its' prognosis is generally good in most instances.

  15. Hyperparathyroidism and thyroid disease. A study of their association

    SciTech Connect

    Stoffer, S.S.; Szpunar, W.E.; Block, M.

    1982-06-01

    The incidence of hyperparathyroidism was prospectively evaluated in a group of patients with thyroid disease, and the incidence of thyroid disease was retrospectively evaluated in a group of patients specifically referred for evaluation of hyperparathyroidism. Hyperparathyroidism was ten times more frequent in thyroid patients than expected in a general medical population and was especially prevalent in patients with nodular goiter. The incidence of thyroid disease in patients with hyperparathyroidism was 38.8%. Although radiation therapy was shown to be a factor in these associations, it alone could not explain the observed frequency.

  16. Reductions in (/sup 3/H)nicotinic acetylcholine binding in Alzheimer's disease and Parkinson's disease: an autoradiographic study

    SciTech Connect

    Whitehouse, P.J.; Martino, A.M.; Wagster, M.V.; Price, D.L.; Mayeux, R.; Atack, J.R.; Kellar, K.J.

    1988-05-01

    In Alzheimer's disease (AD) and Parkinson's disease (PD), dysfunction in the basal forebrain cholinergic system is accompanied by a consistent loss of presynaptic cholinergic markers in cortex, but changes in cholinergic receptor binding sites are poorly understood. In the present study, we used receptor autoradiography to map the distribution of nicotinic (/sup 3/H)acetylcholine binding sites in cortices of individuals with AD and PD and matched control subjects. In both diseases, a profound loss of nicotinic receptors occurs in all cortical layers, particularly the deepest layers.

  17. [Clinical and microbiological study of acute pelvic inflammatory disease].

    PubMed

    Ovalle, A; Martínez, M A; Casals, A; Yuhaniak, R; Giglio, M S

    1993-01-01

    Upper genital tract infection was investigated in 46 women admitted to hospital with clinic diagnosis of acute pelvic inflammatory disease (PID) and 62 control women accepted to hospital for laparoscopy Fallopian tubes sterilization. Diagnosis was ratified by laparoscopy in mild and moderate salpingitis; culdocentesis and ultrasonography were performed in severe salpingitis and endometrial sample was made in endometritis. Microbiological specimens were taken from the cervix and abdomen. Antecedents and complete clinical studies were obtained. Patients were treated with antibiotic association sodic G penicillin, chloramphenicol and gentamicin. Risk factors to development PID were: single female (p < 0.05), multiple sexual partner (p < 0.01), previous PID (p < 0.05), infertility (p < 0.05), mean year of IUD use in severe salpingitis (p = 0.05) and mean years of age from women with sexually transmitted bacterias (STB) vs endogenous bacterias (EB) (p < 0.05). In the control group no abdomen bacterias were isolated. In patients with PID, C. trachomatis was detected by serology in 28.3%. N. gonorrhoeae was isolated from the cervix in 23.9% and from the abdomen 17.4%. Besides it was isolated from the abdomen: M. hominis 17.3% and E. coli 15.2%. STB were isolated in 54.3% and EB in 47.8% of the patients. Bacterial association was present on the 37%. Cervix isolation of G. vaginalis and Mycoplasma were not correlated with development of PID. Cervix microbiological samples were useful to know abdomen microbic etiology. They coincide with those in the 90.9%. EB were more frequently isolated from severe salpingitis (p = 0.05) and STB from mild and moderate salpingitis (p = 0.05). Antibiotic association cured all the mild and moderate salpingitis with independence of bacterial etiology. Failure occurred in 2 diffuse peritonitis and 13/14 tubo-ovarian abscesses. Surgery used in severe salpingitis and diffuse peritonitis, principally consisted in anexectomy, peritoneal toilet and

  18. A phase II study of laquinimod in Crohn's disease

    PubMed Central

    D'Haens, Geert; Sandborn, William J; Colombel, Jean Frederic; Rutgeerts, Paul; Brown, Kurt; Barkay, Hadas; Sakov, Anat; Haviv, Asi; Feagan, Brian G

    2015-01-01

    Objective Laquinimod is an oral therapeutic agent under investigation for the treatment of Crohn's disease (CD), Huntington's disease, lupus nephritis and multiple sclerosis. This dose escalation study evaluated the safety and efficacy of laquinimod as induction therapy in patients with active moderate–severe CD. Design Multicentre, double-blind, sequential-cohort, randomised controlled trial with laquinimod doses of 0.5, 1, 1.5 or 2 mg/day or placebo (n=45 per cohort randomised in a 2:1 ratio) for 8 weeks with 4-week follow-up. Stable concomittant therapies and prior use of anti-tumour necrosis factor agents were permitted. Comprehensive safety assessments were performed and efficacy analyses included the proportions of patients in clinical remission (CD Activity Index (CDAI) <150 and no treatment failure (TF)), and with a clinical response (70 or 100 point CDAI reduction from baseline or remission and no TF). Results 117 patients received laquinimod and 63 patients received placebo. The overall incidence of adverse events (AEs) in the laquinimod group was similar to the pooled placebo group (86.2%–96.7% vs 82.5%) and most AEs were mild to moderate in severity. Treatment with laquinimod 0.5 mg showed consistent effects on remission (48.3% (CI 31% to 66%) vs 15.9% (CI 9% to 27%)), response 100 (55.2% (CI 37% to 71%) vs 31.7% (CI 22% to 44%)) and response 70 (62.1% (CI 44% to 77%) vs 34.9% (CI 24% to 47%)) versus placebo. Laquinimod 1.0 mg showed less benefit (26.7% remission (CI 14% to 44%) and 53.3% response 70 (CI 36% to 70%)), and no effect was noted on remission/response at higher doses. Conclusions Laquinimod was safe and well tolerated, and the effects on remission and response of the 0.5 mg dose suggest a treatment benefit in patients with CD. Trial registration number NCT00737932. PMID:25281416

  19. Six-year incidence of angle-closure disease in a South Indian population: the Chennai Eye Disease Incidence Study.

    PubMed

    Vijaya, Lingam; Asokan, Rashima; Panday, Manish; Choudhari, Nikhil S; Ramesh, Sathyamangalam Ve; Velumuri, Lokapavani; Boddupalli, Sachi Devi; Sunil, Govindan T; George, Ronnie

    2013-12-01

    To estimate the 6-year incidence of primary angle-closure (PAC) disease among adult population aged 40 years and older from rural and urban south India. Population-based longitudinal study. A complete ophthalmologic examination, including applanation tonometry, gonioscopy, biometry, stereoscopic fundus examination, and automated perimetry was performed at both baseline and at the 6-year follow up at base hospital. Incident PAC disease was defined as the development of PAC disease during the 6-year follow-up in phakic subjects without PAC disease at baseline. Diagnosis was made using the International Society Geographical and Epidemiological Ophthalmology classification. The data were analyzed for 3350 subjects (mean age, 56.4 ± 8.9 years; 1547 males, 1803 females) for a diagnosis of PAC disease at baseline and at follow-up examinations. The incidence of PAC disease was identified in 134 subjects (6-year incidence rate, 4.0%; 95% confidence interval (CI), 3.3-4.7). Among the 134 subjects, 88 subjects (2.6%, 95% CI, 2.1-3.2) were primary angle-closure suspects; 37 subjects (1.1%, 95% CI, 0.7-1.5) had primary angle closure, and 9 subjects (0.3%, 95% CI, 0.1-0.4) had primary angle-closure glaucoma. There was an inverse relationship between the incidence of PAC disease and the cataract surgery rates. Significant risk factors for PAC disease on logistic regressions were higher intraocular pressure, increased lens thickness, shorter axial length, shallow anterior chamber depth, anteriorly positioned lens, and hyperopia. The average incidence of PAC disease per year was 0.7%. All biometric parameters were found to be strong predictors for the incidence of PAC disease. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. Phonetic Approaches of Laryngopharyngeal Reflux Disease: A Prospective Study.

    PubMed

    Lechien, Jérôme R; Delvaux, Véronique; Huet, Kathy; Khalife, Mohamad; Fourneau, Anne-Françoise; Piccaluga, Myriam; Harmegnies, Bernard; Saussez, Sven

    2017-01-01

    The study aimed to explore the impact of the selection of the analyzed time interval on the significance of acoustic measurements used to investigate laryngopharyngeal reflux (LPR) treatment efficacy, and based on these results to develop an alternative statistical approach in data analysis focusing on individual patient vocal behavior. This is a prospective case series. From September 2013 to July 2015, 41 patients with a reflux finding score (RFS) > 7 and a reflux symptom index (RSI) > 13 were enrolled and treated with pantoprazole 20 mg twice daily and diet behavioral changes for 3 months. Voice recordings were performed at baseline and after 3 months of treatment. Most stable time intervals of 1, 2, 3, 4, and 5 seconds, and a 1-second time interval positioned at mid-production, were subjected to acoustic analysis. Based on the latter, we developed an "informativeness coefficient" for each acoustic parameter that aimed at assessing its sensitivity to clinical resolution in the case of LPR disease. Significant clinical improvement (RSI and RFS) was observed after treatment (P < 0.05). The acoustic analysis revealed that acoustic parameters significantly improving from pre- to posttreatment varied across time intervals. The duration and the position of the analyzed time interval in the production yielded considerable differences in the results. Analysis of the informativeness coefficient indicated that jitter, jitter percent, relative average perturbation (RAP), pitch perturbation quotient (PPQ), shimmer (ShdB), shimmer percent (Shim), amplitude perturbation quotient (APQ), and smoothed amplitude perturbation quotient (sAPQ) were the indices most sensitive to medical treatment efficacy, with a coefficient ranging from 75.86% to 86.21%. Depending on the selection of the time interval over which the acoustic parameters are measured, the potential effect of the treatment may or may not be statistically demonstrated. Future studies are needed to