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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 Central

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

    2009-01-01

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

  2. Mycoses and Mycotoxicoses

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  3. 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. PMID:25596859

  4. 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

  5. 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

  6. [Opportunistic mycoses in pediatrics].

    PubMed

    Dupont, B

    1985-12-01

    The two most important pathologic conditions leading to mycotic opportunistic infections in children are impairment of mechanisms of defense due to immunosuppressive drugs and congenital defects of immunity. Other circumstances belong to pediatrics such as prematurity or cystic fibrosis. A few examples are chosen to illustrate these situations: congenital candidiasis, chronic mucocutaneous candidiasis, chronic dermatophytic disease, neonatal candidemia, mycotic infections in chronic granulomatous disease and aspergillosis in cystic fibrosis. PMID:3833106

  7. 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

  8. [Therapy of nail mycoses].

    PubMed

    Büchner, S A

    1998-08-01

    Onchomycosis is the most common nail disease, accounting for approximately 30% of all cutaneous fungal infections. The treatment approach needs to take into account the location and extent of onychomycosis, sensitivity of drug to fungal organism, adverse-effects profile, dosage schedule, duration of therapy, concomitant medical conditions, and concurrent medications. To confirm the diagnosis, it is important to correctly select the appropriate site for specimen collection used for both direct microscopy and fungal culture. Topical antifungal agents may be considered for the treatment of early onychomycosis, in the absence of nail matrix involvement. The newer generation of oral antifungal agents for the treatment of onychomycosis are terbinafine, itraconazole and fluconazole. These drugs used alone, or in combination with topical antifungals, are providing the basis for effective treatment of onychomycosis in a large proportion of patients. PMID:9757817

  9. 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. PMID:25982207

  10. 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). PMID:24252827

  11. 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. PMID:24442042

  12. Interdigital foot infections: Corynebacterium minutissimum and agents of superficial mycoses

    PubMed Central

    Sariguzel, Fatma Mutlu; Koc, A. Nedret; Yagmur, Gülhan; Berk, Elife

    2014-01-01

    Interdigital foot infections are mostly caused initially by dermatophytes, yeasts and less frequently by bacteria. Erythrasma caused by Corynebacterium minutissimum can be confused with superficial mycoses. The aim of the study was to determine the prevalence of the etiologic agents of superficial mycoses and the frequency of Corynebacterium minutissimum in interdigital foot infections. All the samples obtained from the 121 patients with interdigital foot infections were examined directly with the use of 20% potassium hydroxide mounts and Gram stain under the microscope and cultured on Sabouraud’s dextrose agar plates. In identification of superficial mycoses, the rate was found to be 14% with the cultural method and 14% with direct microscopic examination. Using a combination of direct microscopic examination and culture, a 33.8% ratio was achieved. In the culture of these samples, the most isolated factor was Trichophyton rubrum (33.7%). In 24 of the patients (19.8%) Corynebacterium minutissimum was detected by Gram staining, in 6 of these patients Trichophyton rubrum was found, Trichophyton mentagrophytes was found in 2 and Trichosporon spp. was found in 1. The examination of interdigital foot lesions in the laboratory, the coexistence of erythrasma with dermatophytes and yeast should be considered. PMID:25477907

  13. Interdigital foot infections: Corynebacterium minutissimum and agents of superficial mycoses.

    PubMed

    Sariguzel, Fatma Mutlu; Koc, A Nedret; Yagmur, Gülhan; Berk, Elife

    2014-01-01

    Interdigital foot infections are mostly caused initially by dermatophytes, yeasts and less frequently by bacteria. Erythrasma caused by Corynebacterium minutissimum can be confused with superficial mycoses. The aim of the study was to determine the prevalence of the etiologic agents of superficial mycoses and the frequency of Corynebacterium minutissimum in interdigital foot infections. All the samples obtained from the 121 patients with interdigital foot infections were examined directly with the use of 20% potassium hydroxide mounts and Gram stain under the microscope and cultured on Sabouraud's dextrose agar plates. In identification of superficial mycoses, the rate was found to be 14% with the cultural method and 14% with direct microscopic examination. Using a combination of direct microscopic examination and culture, a 33.8% ratio was achieved. In the culture of these samples, the most isolated factor was Trichophyton rubrum (33.7%). In 24 of the patients (19.8%) Corynebacterium minutissimum was detected by Gram staining, in 6 of these patients Trichophyton rubrum was found, Trichophyton mentagrophytes was found in 2 and Trichosporon spp. was found in 1. The examination of interdigital foot lesions in the laboratory, the coexistence of erythrasma with dermatophytes and yeast should be considered. PMID:25477907

  14. Superficial mycoses in Saudi Arabia.

    PubMed

    Venugopal, P V; Venugopal, T V

    1992-01-01

    Between June 1988 and December 1990, 1018 cases of superficial mycoses were investigated. Diagnosis was confirmed by microscopic examination in 503 cases and the causal agent was isolated in 490 cases. Tinea capitis accounted for 47.7% (92.5% in children below 10 years of age). The frequency of other clinical types in descending order was pityriasis versicolor 25.8%, tinea corporis 9%, onychomycosis 5.8%, tinea pedis 4%, intertrigo 3.9% and tinea cruris 2.8%. Erythrasma was encountered three times and mixed piedra and trichomycosis axillaris once. Microsporum canis was the commonest aetiological agent, responsible for 46.9% of ringworm infections. Malassezia furfur was the next most common agent (26.5%) followed by Candida albicans (8.6%) and Trichophyton violaceum (8.2%). Other species were found less frequently. T.simii was isolated from four cases of tinea cruris and one each of tinea capitis and tinea corporis, and Piedraia hortae and Trichosporon beigelii from a case of mixed piedra infection. PMID:1445094

  15. [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. PMID:27382801

  16. [State of the art in invasive diseases by filamentous fungi].

    PubMed

    Pemán, Javier; Quindós, Guillermo

    2014-01-01

    Invasive fungal infections have become a major cause of morbimortality in intensive care patients, persons suffering from cancer or immune deficiencies, and other diseases with impaired immunity. Candida albicans remains the most frequent fungal pathogen, but advances in the diagnosis, prevention and treatment of invasive candidiasis are leading to important etiological changes. Among the emerging invasive mycoses, are those caused by filamentous fungi, such as Aspergillus, Lomentospora/Scedosporium, Fusarium or the Mucorales. Invasive aspergillosis is difficult to diagnose, and although there are diagnostic tools available, their use is not widespread, and their effectiveness vary depending on the group of patients. Clinical suspicion in high-risk patients, radiological diagnosis and the use of biomarkers, such as 1,3-β-D-glucan and galactomannan, can be of great help. However, diagnostic resources are limited in other mycoses, but radiology, pathological studies and the microbiological diagnosis can be useful. The high mortality of these mycoses requires early empirical antifungal treatment in many cases. Voriconazole is the first choice for treatment of the majority of aspergillosis, scedosporiasis, fusariosis and other hyalohyphomycoses. The treatment of mucormycoses, Lomentospora prolificans infections or mycoses by dematiaceous fungi are more complicated. Amphotericin B is active against many mucoralean fungi, but the combination of two or more antifungal agents could be a therapeutic alternative in many amphotericin B-refractory mycoses. Current clinical challenges include improving the diagnosis and the treatment of these mycoses, along with improving the adequate prevention in patients at high risk of suffering from them. PMID:25449676

  17. [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. PMID:22130575

  18. 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

  19. 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

  20. 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. PMID:22196206

  1. [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. PMID:25558751

  2. 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. PMID:26590579

  3. Opportunistic deep cutaneous mycoses in solid organ transplant recipients.

    PubMed

    Tessari, G; Cagalli, A; Girolomoni, G

    2014-08-01

    Invasive fungal infections are a major cause of morbidity and mortality among organ transplant recipients, despite many progresses concerning diagnosis, preventions and treatment. Risk factors for invasive fungal infections in transplanted recipients include type and severity of immunosuppression, especially in life-saving organs as lung or liver, older age at transplantation, and technical complexity of surgery, living in endemic areas or exposure to a contaminated environment. Superficial fungal infections are caused by Candida, Dermatophytes, and Malassezia. In invasive mycoses, skin lesions may occur as a consequence of the systemic dissemination of invasive mycoses, or after direct inoculation in the skin. Aspergillosis, cryptococcosis, Zygomycoses, dark mould infections, fusariosis and infections attributable to Scedosporium and Pseudallescheria species are the most common etiological agents. Cutaneous manifestations of fungal infection are not specific, and a high degree of suspicion is required, and prompt biopsy for histology and culture is needed. Therapy with lyposomal amphotericin B and new triazoles are effective. PMID:25068229

  4. Opportunistic deep cutaneous mycoses in solid organ transplant recipients.

    PubMed

    Tessari, G; Cagalli, A; Girolomoni, G

    2014-08-01

    Invasive fungal infections are a major cause of morbidity and mortality among organ transplant recipients, despite many progresses concerning diagnosis, preventions and treatment. Risk factors for invasive fungal infections in transplanted recipients include type and severity of immunosuppression, especially in life-saving organs as lung or liver, older age at transplantation, and technical complexity of surgery, living in endemic areas or exposure to a contaminated environment. Superficial fungal infections are caused by Candida, Dermatophytes, and Malassezia. In invasive mycoses, skin lesions may occur as a consequence of the systemic dissemination of invasive mycoses, or after direct inoculation in the skin. Aspergillosis, cryptococcosis, Zygomycoses, dark mould infections, fusariosis and infections attributable to Scedosporium and Pseudallescheria species are the most common etiological agents. Cutaneous manifestations of fungal infection are not specific, and a high degree of suspicion is required, and prompt biopsy for histology and culture is needed. Therapy with lyposomal amphotericin B and new triazoles are effective. PMID:24938725

  5. 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

  6. 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

  7. 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

  8. 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. PMID:23428378

  9. Invasive fungal disease in university hospital: a PCR-based study of autopsy cases

    PubMed Central

    Ruangritchankul, Komkrit; Chindamporn, Ariya; Worasilchai, Navaporn; Poumsuk, Ubon; Keelawat, Somboon; Bychkov, Andrey

    2015-01-01

    Invasive fungal disease (IFD) has high mortality rate, especially in the growing population of immunocompromised patients. In spite of introduction of novel diagnostic approaches, the intravital recognition of IFD is challenging. Autopsy studies remain a key tool for assessment of epidemiology of visceral mycoses. We aimed to determine species distribution and trends of IFD over the last 10 years in unselected autopsy series from a large university hospital. Forty-five cases of visceral mycoses, confirmed by histopathology and panfungal PCR, were found in 587 consecutive autopsies. Major underlying diseases were diabetes mellitus (20%), hematologic malignancies (15.6%) and systemic lupus erythematosus (15.6%). There was a high risk for disseminated IFD in immunocompromised patients stayed in the hospital over 1 month with a fever longer than 3 weeks. The most common fungi were Aspergillus spp. (58%), Candida spp. (16%), Mucorales (14%) and Fusarium spp. (10%). We found significant increase in Aspergillus flavus (P = 0.04) and Mucorales (P < 0.01) infections over the last 5 years. Concordance rate between histopathology and panfungal PCR was 89.5% to the genus level. All 6 cases of fusariomycosis were misinterpreted as aspergillosis by histology alone. The precise species identification, necessary for targeted antifungal treatment, was rendered only by the molecular technique. Panfungal PCR showed high performance on formalin-fixed paraffin-embedded specimens, providing important epidemiological data in retrospective autopsy series. Rapid detection of fungi by panfungal PCR assay has high potential for intravital diagnostics of IFD in surgical and biopsy specimens. PMID:26823814

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

    PubMed

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

    1994-01-01

    Stationary dermatologic examination covered 32 sufferers from epidermophytosis of soles, who used 3 types of antimicrobial insoles chosen through laboratory investigations. Clinical trials proved that antimicrobial insoles, if applied during 2 weeks, result in considerably decreased occurrence of causal fungus in the patients' surface skin scarring. The results proved fungicidal and bactericidal activity of insoles including furagin, nitrofurilacroleine, polyhexamethylene guanidine, so such insoles could be recommended as prophylactic measure for mycoses of soles. PMID:7881859

  12. 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. PMID:26671603

  13. [Genetic study of allergic diseases].

    PubMed

    Zhang, Yuan; Zhang, Luo

    2012-09-01

    Allergic diseases mentioned in this review is regarding to I type allergic inflammation induced by an IgE-mediated reaction, including asthma, allergic rhinitis, atopic dermatitis and food allergy. It is convinced that allergic diseases belong to multiple genes diseases and are controlled by both genetic and environmental factors. Meanwhile there exists gene-gene as well as gene-environment interactions during the development of the disease. The aim of this review is to summarize the toolkit, advance, inherent difficulties and future clinical application prospect in genetic studies of allergic disease. PMID:23214325

  14. 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. PMID:26010584

  15. STUDY OF WATERBORNE DISEASE OCCURRENCE

    EPA Science Inventory

    The SDWA Amendments of 1996 added a requirement for EPA and the Centers for Disease Control and Prevention (CDC) to jointly carry out "pilot waterborne disease occurrence studies for at least five major U.S. communities or public water systems" and "prepare a report on the findin...

  16. 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

  17. Advances in combating fungal diseases: vaccines on the threshold

    PubMed Central

    Cutler, Jim E.; Deepe, George S.; Klein, Bruce S.

    2008-01-01

    The dramatic increase in fungal diseases in recent years can be attributed to the increased aggressiveness of medical therapy and other human activities. Immunosuppressed patients are at risk of contracting fungal diseases in healthcare settings and from natural environments. Increased prescribing of antifungals has led to the emergence of resistant fungi, resulting in treatment challenges. These concerns, together with the elucidation of the mechanisms of protective immunity against fungal diseases, have renewed interest in the development of vaccines against the mycoses. Most research has used murine models of human disease and, as we review in this article, the knowledge gained from these studies has advanced to the point where the development of vaccines targeting human fungal pathogens is now a realistic and achievable goal. PMID:17160002

  18. Haplotype studies in Wilson disease

    SciTech Connect

    Thomas, G.R.; Bull, P.C.; Roberts, E.A.; Cox, D.W.; Walshe, J.M. )

    1994-01-01

    In 51 families with Wilson disease, the authors have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene (WND). In addition to a marker (D13S133) described elsewhere, the authors have developed three new highly polymorphic markers (D13S314, D13S315, and D13S316) close to the WND locus. The authors have examined the distribution of marker alleles at the loci studied and have found that D13S314, D13S133, and D13S316 each show nonrandom distribution on chromosomes carrying the WND mutation. The authors have studied haplotypes of these three markers and have found that there are highly significant differences between WND and normal haplotypes in northern European families. These findings have important implications for mutation detection and molecular diagnosis in families with Wilson disease. 25 refs., 2 figs., 5 tabs.

  19. 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. PMID:27109283

  20. Study Links Climate Change to Kidney Disease

    MedlinePlus

    ... medlineplus.gov/news/fullstory_158680.html Study Links Climate Change to Kidney Disease Rising temperatures, less rain seen ... 5, 2016 THURSDAY, May 5, 2016 (HealthDay News) -- Climate change may boost rates of chronic kidney disease worldwide ...

  1. Study Links Climate Change to Kidney Disease

    MedlinePlus

    ... gov/medlineplus/news/fullstory_158680.html Study Links Climate Change to Kidney Disease Rising temperatures, less rain ... 5, 2016 THURSDAY, May 5, 2016 (HealthDay News) -- Climate change may boost rates of chronic kidney disease ...

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

    PubMed Central

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

    2015-01-01

    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 Aeromonashydrophila PMID:26155462

  3. 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. PMID:26155462

  4. 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

    2015-01-01

    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. PMID:25637361

  5. [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

  6. Neurology Case Studies: Cerebrovascular Disease.

    PubMed

    Farooq, Muhammad U; Gorelick, Philip B

    2016-08-01

    This article discusses interesting vascular neurology cases including the management of intracranial stenosis, migraine headache and stroke risk, retinal artery occlusions associated with impaired hearing, intracranial occlusive disease, a heritable cause of stroke and vascular cognitive impairment, and an interesting clinico-neuroradiologic disorder associated with eclampsia. PMID:27445238

  7. Lumpy Skin Disease in Iraq: Study of the Disease Emergence.

    PubMed

    Al-Salihi, K A; Hassan, I Q

    2015-10-01

    This study intends to report the first emergence of lumpy skin disease (LSD) in Iraq, in addition to describing its related clinical signs. In August 2013, 21 cases of four outbreaks developed clinical signs suggestive of LSD in the Nineveh (Mosul) and Baghdad Governorates, which were considered as the first infected foci of LSD in Iraq. The disease was diagnosed tentatively, on the basis of clinical signs and epidemiological features, and it was confirmed as positive by the polymerase chain reaction and histopathological features. In September 2013, eight new outbreaks of LSD also appeared in Baghdad and Nineveh. In 2014, the disease spread rapidly to the governorates of Kirkuk, Salah Al-Din, Al-Anbar, Diyala, Wasit, Babil, Karbala, Najaf, Al-Diwaniyah, Muthanna, Maysan, DhiQar and Basra. The total number of infected cows and calves reported was 7396 and 227, respectively. The apparent morbidity and mortality rates were 9.11% and 0.51%, respectively, while the apparent case-fatality rate was 5.56%. Skin nodules, anorexia, reduce in milk production and decrease in bodyweight were the common clinical signs. Moreover, myiasis and mastitis were seen as complications in some infected animals. Attempts were made to stop the distribution of the disease including quarantine and treatment, control over animal movement and arthropod control. Ring vaccination was used in a 10 km radius zone around the outbreak with live sheep pox vaccine. The highly contagious transboundary nature of the LSD, its endemic distribution in the Iraqi neighbouring countries, and the current armed conflict in the area were the possible factors for the disease being introduced into the country. LSD had spread through the Middle East and Gulf peninsula and could be a cause of danger to the rest of Asia and Europe. International precaution, cooperation and exchange of information could guarantee the prevention and further spread of the disease to the rest of Asia and Europe. PMID:26105081

  8. 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

  9. Rabbit Models for Studying Human Infectious Diseases.

    PubMed

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

    2015-12-01

    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

  10. Management of mycoses in neutropenic patients: a brief history, 1960–2008

    PubMed Central

    Bennett, John E.

    2009-01-01

    The career that this symposium honours, that of Ben E. de Pauw, MD, PhD, could be said to have begun in 1970 upon his graduation from the University of Amsterdam. However, it was his move to Nijmegen in 1975 to finish his PhD studies that really began the career in which he forged expertise in haematology, oncology, immunology and infectious diseases into one spectacular career that resulted in more than 200 publications. PMID:19372177

  11. Endometriosis Linked to Heart Disease in Study

    MedlinePlus

    ... epidemiologic research in reproductive medicine at Brigham and Women's Hospital in Boston. Missmer said the study found an association between endometriosis and the risk of heart disease, but can't prove a cause-and-effect relationship. She believes this is the first study to ...

  12. [Metagenomic studies and infectious diseases diagnostics].

    PubMed

    Alekseeva, A E; Brusnigina, N F

    2015-01-01

    Principles of mass parallel sequencing, otherwise called next generation sequencing (NGS), appeared at the beginning of 2000s and were realized in dozens of NGS platforms. High performance and sequencing speed of NGS platforms opened wide horizons for scientists in the field of genomic studies, including metagenomic, first of all related to studies of structure of various microbiocenoses. Dozens of studies dedicated to studies of microbiome and virome of various biotopes of humans in normal state and pathology by using NGS platforms have appeared, forming novel conceptions on pathogenesis and epidemiology ofvarious infectious diseases. Significant cost reduction of the analysis facilitates expansion of sphere of application for NGS technologies not only in the field of fundamental, but also applied microbiologic studies, including etiologic diagnostics of infectious diseases. Due to the increase of the number of cases of infectious diseases, that do not have a typical clinical presentation, use of metagenomic approach is of particular importance, allowing to carry out detection of a wide spectrum of causative agents of bacterial, viral and parasitic infections. Technologic features of mass parallel sequencing platform, main methods of metagenomic studies and bioinformatics approaches, used for the analysis of data obtained, are presented in the review. Studies on healthy human microbiome and in pathology are described; possibilities and perspectives of metagenomic approach application in diagnos- tics and system of epidemiologic control of infectious diseases are examined. PMID:26016350

  13. 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

  14. 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. PMID:24733869

  15. 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. PMID:26916648

  16. Paediatric UK demyelinating disease longitudinal study (PUDDLS)

    PubMed Central

    2011-01-01

    Background There is evidence that at least 5% of Multiple sclerosis (MS) cases manifest in childhood. Children with MS present with a demyelinating episode involving single or multiple symptoms prior to developing a second event (usually within two years) to then meet criteria for diagnosis. There is evidence from adult cohorts that the incidence and sex ratios of MS are changing and that children of immigrants have a higher risk for developing MS. A paediatric population should reflect the vanguard of such changes and may reflect trends yet to be observed in adult cohorts. Studying a paediatric population from the first demyelinating event will allow us to test these hypotheses, and may offer further valuable insights into the genetic and environmental interactions in the pathogenesis of MS. Methods/Design The Paediatric UK Demyelinating Disease Longitudinal Study (PUDDLS) is a prospective longitudinal observational study which aims to determine the natural history, predictors and outcomes of childhood CNS inflammatory demyelinating diseases. PUDDLS will involve centres in the UK, and will establish a cohort of children affected with a first CNS inflammatory demyelinating event for long-term follow up by recruiting for approximately 5 years. PUDDLS will also establish a biological sample archive (CSF, serum, and DNA), allowing future hypothesis driven research. For example, the future discovery of a biomarker will allow validation within this dataset for the evaluation of novel biomarkers. Patients will also be requested to consent to be contacted in the future. A secondary aim is to collaborate internationally with the International Paediatric Multiple Sclerosis Study Group when future collaborative studies are proposed, whilst sharing a minimal anonymised dataset. PUDDLS is the second of two jointly funded studies. The first (UCID-SS) is an epidemiological surveillance study that already received ethical approvals, and started on the 1st September 2009. There is

  17. 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)

  18. 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. PMID:3476785

  19. Common Heartburn Drugs Linked to Kidney Disease in Study

    MedlinePlus

    ... fullstory_158313.html Common Heartburn Drugs Linked to Kidney Disease in Study But finding can't show whether ... heartburn may be at increased risk of developing kidney disease, a new study suggests. The research is the ...

  20. Clinical studies in lysosomal storage diseases

    PubMed Central

    Boudes, Pol F

    2013-01-01

    Lysosomal storage disorders (LSDs) consist of over 40 diseases, some of which are amenable to treatment. In this review, we consider the regulatory context in which LSDs studies are performed, highlight design specificities and explore operational challenges. Orphan drug legislations, both in Europe and US, were effective to stimulate LSDs drug development. However, regulators flexibilities toward approval vary leading to global discrepancies in access to treatments. Study designs are constrained because few patients can be studied. This implies LSDs treatments need to demonstrate large levels of clinical efficacy. If not, an appropriate level of evidence is difficult to achieve. While biomarkers could address this issue, none have been truly accepted as primary outcome. Enrichment of study population can increase the chance of success, especially with clinical outcomes. Adaptive designs are operationally challenging. Innovative methods of analysis can be used, notably using a patient as his/her own control and responder analysis. The use of extension phases and patient registries as a source of historical comparison can facilitate data interpretation. Operationally, few patients are available per centers and multiple centers need to be initiated in multiple countries. This impacts time-lines and budget. In the future, regulators flexibility will be essential to provide patients access to innovative treatments. PMID:25003011

  1. Whole Genome Association Study of Johne's Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Bovine Paratuberculosis, commonly referred to as Johne's disease, is a contagious bacterial disease estimated to be present in over 65% of US dairy herds and results in annual losses in the hundreds of millions of US dollars. Mycobacterium avium subspecies paratuberculosis (MAP) is the bacteria resp...

  2. RETROSPECTIVE EPIDEMIOLOGICAL STUDY OF DISEASE ASSOCIATED WITH WASTEWATER UTILIZATION

    EPA Science Inventory

    A retrospective epidemiological study was carried out on the association between enteric disease incidence and wastewater utilization in 79 kibbutzim (cooperative agricultural settlements) in Israel having a population of 32,672. Medical records on disease incidence were collecte...

  3. New Approaches for Studying Alcoholic Liver Disease

    PubMed Central

    Xu, Jun; Liu, Xiao; Gao, Bin; Karin, Michael; Tsukamoto, Hidekazu; Brenner, David

    2015-01-01

    Alcoholic liver disease (ALD) is major cause of chronic liver injury which results in liver fibrosis and cirrhosis. According to the surveillance report published by the National Institute on Alcohol Abuse and Alcoholism, liver cirrhosis is the 12th leading cause of death in the United States with 48 % of these deaths being attributed to excessive alcohol consumption. ALD includes a spectrum of disorders from simple steatosis to steatohepatitis, fibrosis, and hepatocellular carcinoma. Several mechanisms play a critical role in the pathogenesis of ALD. These include ethanol–induced oxidative stress and depletion of glutathione, pathological methionine metabolism, increased gut permeability and release of endotoxins into the portal blood, recruitment and activation of inflammatory cells including bone marrow-derived and liver resident macrophages (Kupffer cells). Chronic alcohol consumption results in liver damage and activation of hepatic stellate cells (HSCs) and myofibroblasts, leading to liver fibrosis. Here we discuss the current view on factors that are specific for different stages of ALD and those that regulate its progression, including cytokines and chemokines, alcohol-responsive intracellular signaling pathways, and transcriptional factors. We also review recent studies demonstrating that alcohol-mediated changes can be regulated on an epigenetic level, including microRNAs. Finally, we discuss the reversibility of liver fibrosis and inactivation of HSCs as a potential strategy for treating alcohol-induced liver damage. PMID:26594598

  4. 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)

  5. A retrospective study of disease in elasmobranchs.

    PubMed

    Garner, M M

    2013-05-01

    This report reviews diseases of 1546 elasmobranchs representing at least 60 species submitted to Northwest ZooPath from 1994 to 2010. Cownose rays (Rhinoptera bonasus) (78), southern rays (Dasyatis americana) (75), dusky smooth-hounds (Mustelus canis) (74), bonnethead sharks (Sphyrna tiburo) (66), and bamboo sharks (Hemiscylliidae) (56) were the most commonly submitted species. Infectious/inflammatory disease was most common (33.5%) followed by nutritional (11.9%, mostly emaciation), traumatic (11.3%), cardiovascular (5.5%, mostly shock), and toxin-associated disease (3.7%). Bacterial infections (518/1546, 15%) included sepsis (136/518, 26%), dermatitis (7%), branchitis (6%), and enteritis (4%). Fungal infections (10/1546, 0.6%) included dermatitis (30%), hepatitis (30%), and branchitis (20%). Viral or suspected viral infections or disease processes (15/1546, 1%) included papillomatosis (47%), herpesvirus (20%), and adenovirus (7%). Parasitic infections (137/1546, 9%) included nematodiasis (36/137, 26%), ciliate infections (23%), trematodiasis (20%), coccidiosis (6%), myxozoanosis (5%), amoebiasis (4%), cestodiasis (1%), and flagellate infections (1%). Inflammation of unknown cause (401/1546, 26%) included enteritis (55/401, 14%), branchitis (9%), encephalitis (9%), and dermatitis (7%). Traumatic diseases (174/1546, 11.3%) included skin trauma (103/174, 60%), stress/maladaptation (9%), and gut trauma (7%). Toxicoses (57/1546, 4%) included toxic gill disease (16/57, 26%), gas bubble disease (19%), fenbendazole (7%), ammonia (7%), chlorine (5%), and chloramine (3%). Species trends included visceral nematodiasis in black-nosed sharks (Carcharhinus acronotus) (55%); sepsis in dusky smooth-hounds (41%), blue-spotted stingrays (36%), southern rays (36%), and wobeggong sharks (Orectolobus spp) (69%); emaciation in bamboo (33%) and bonnethead (32%) sharks and freshwater stingrays (Potamotrygon motoro) (32%); and trauma in bonnethead sharks (30%). PMID:23528944

  6. [Voriconazole for the therapy of mycoses in recipients of solid organ transplants].

    PubMed

    Solé, Amparo; Salavert, Miguel

    2007-09-30

    Invasive fungal infections (IFI) are the third cause of infectious complications in recipients of solid organ transplants (SOT), showing an incidence of 5-42% depending of the trasplanted organ. Moreover, IFI account for significant morbility and mortality in SOT, ranging between 25-95% depending on the type of fungus and its organ localization. Different strategies (prophylaxis, preemptive treatment, treatment, antifungal combinations, routes of administration) have been tested to improve the prognosis of IFI in SOT. To reach this objective, it was essential to have access to new antifungals showing a higher spectrum of activity on the fungal pathogens, both classical and emerging, and showing improvements in pharmacokinetic and pharmacodynamic characteristics, ease of administration and acceptability and lower rates of adverse effects. Introduction of voriconazole in the therapeutic arsenal has facilitated to reach these goals due to its special pharmacological characteristics, its in vitro antifungal activity and the in vivo clinical efficacy demonstrated in different studies. PMID:17874859

  7. [In vivo and in vitro suppression of lymphocyte function in paranasal sinus mycoses].

    PubMed

    Loidolt, D; Mangge, H; Wilders-Truschnig, M; Beaufort, F; Schauenstein, K

    1989-07-01

    In about 10% of patients operated on a chronic sinusitis, an aspergilloma is found in the paranasal sinus. To detect possible underlying immunodeficiencies, patients with aspergilloma were subjected to an immunological screening programme. The data were compared with those of patients suffering from non-mycotic chronic sinusitis and healthy controls. Totale lymphocyte counts and immunological levels were normal in both groups of sinusitis. Leukocyte subset analyses by membrane fluorescence revealed a significant decrease of CD11+ cells, i.e. macrophages/monocytes and NK cells, in both types of sinusitis. Furthermore, a markedly enhanced frequency of CD25+-cells, i.e. IL 2-receptor bearing cells, was observed in patients with aspergilloma. Peripheral blood lymphocytes of both groups of patients showed a significant reduction in the proliferative response to both T and B-cell mitogens, the values for the mitogens ConA and PWM being significantly lower in aspergilloma patients than in those with non-mycotic sinusitis. This lack of lymphocyte stimulation in the aspergilloma group was also manifest in skin tests to recall antigens. These first data suggest an immunodeficiency in association with chronic sinusitis caused by Aspergillus fumigatus. Further studies are needed to clarify if this defect is cause or result of the mycotic infection. PMID:2669777

  8. 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

  9. Boundary detection in disease mapping studies.

    PubMed

    Lee, Duncan; Mitchell, Richard

    2012-07-01

    In disease mapping, the aim is to estimate the spatial pattern in disease risk over an extended geographical region, so that areas with elevated risks can be identified. A Bayesian hierarchical approach is typically used to produce such maps, which represents the risk surface with a set of random effects that exhibit a single global level of spatial smoothness. However, in complex urban settings, the risk surface is likely to exhibit localized rather than global spatial structure, including areas where the risk varies smoothly over space, as well as boundaries separating populations that are geographically adjacent but have very different risk profiles. Therefore, this paper proposes an approach for capturing localized spatial structure, including the identification of such risk boundaries. The effectiveness of the approach is tested by simulation, before being applied to lung cancer incidence data in Greater Glasgow, UK, between 2001 and 2005. PMID:22045911

  10. 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.

  11. 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

  12. Medicare Spends Billions on Chronic Kidney Disease, Study Finds

    MedlinePlus

    ... nlm.nih.gov/medlineplus/news/fullstory_158020.html Medicare Spends Billions on Chronic Kidney Disease, Study Finds ... affects nearly 14 percent of Americans and costs Medicare billions of dollars a year, a new study ...

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

    PubMed Central

    Liu, Jimmy Z.; Anderson, Carl A.

    2014-01-01

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

  14. Doppler ultrasound studies in pelvic inflammatory disease.

    PubMed

    Tinkanen, H; Kujansuu, E

    1992-01-01

    Ten women with tubo-ovarian abscess caused by pelvic inflammatory disease (PID) were investigated by transvaginal Doppler ultrasound during the acute and healing phases of the infection. The pulsatility index (PI) of the uterine arteries was measured and compared with the values obtained from 19 healthy women. Each control patient was investigated three times during a single menstrual cycle. In PID patients, the PI values were significantly lower than in controls in the same phase of the menstrual cycle. When C-reactive protein was > 50, the PI values were lowest and reverted to normal values when the infection subsided. In a case of chronic infection, the PI did not rise to normal despite normal infection parameters. Doppler ultrasound seems to offer a new method of assessing PID. PMID:1487185

  15. [Advances in Genomics Studies for Coronary Artery Disease].

    PubMed

    Wang, Ying; Zhu, Hui-juan; Zeng, Yong

    2015-08-01

    Coronary artery disease (CAD) is one of the major life-threatening diseases. In addition to traditional risk factors including age, sex, smoking, hypertension,and diabetes, genomic studies have shown that CAD has obvious genetic predisposition. In recent years, the rapid advances in genomics shed new light on early diagnosis, risk stratification and new treatment targets. PMID:26564468

  16. 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)

  17. OBSERVATIONS ON THE STATE OF MARINE DISEASE STUDIES

    EPA Science Inventory

    State of marine disease studies is described. erhaps the greatest area of success in the last 20 years has been in the identification and characterization of viruses, bacteria, fungi, protozoan and metazoan disease agents. pening of new areas of investigation such as that of inte...

  18. Periodontal Disease and Adverse Birth Outcomes: A Study from Pakistan

    PubMed Central

    Mobeen, N; Jehan, I; Banjay, N; Moore, J; McClure, EM; Pasha, O; Wright, LL; Goldenberg, RL

    2013-01-01

    OBJECTIVES Periodontal disease may increase the risk of adverse birth outcomes; however, results have been mixed. Few studies have examined periodontal disease in developing countries. We describe the relationship between periodontal disease and birth outcomes in a community setting in Pakistan. METHODS Enrollment occurred at 20–26 wks. A study dentist performed the periodontal examination to assess probing depth (PD), clinical attachment level (CAL), gingivitis index (GI) and plaque index (PI). Outcomes included stillbirth, neonatal mortality, <32 wk preterm birth (PTB), 32–36 wk PTB, and low birthweight (LBW), and are presented for increasing periodontal disease severity by quartiles (Q1-4). RESULTS Dental examinations and outcome data were completed for 1152 women. 81% were multiparous with a mean age of 27 yrs. 33% had no education. Dental caries were present in 47%, missing teeth in 27%, and 92% had no dental care in the last year. Periodontal disease was common: 87% had ≥ 4 teeth with a PD of >3mm, 54% had ≥4 teeth with a PI = 3, and 58% had ≥ 4 teeth with a GI = 3. In general, as the measure of periodontal disease increased, stillbirth, PTB <32 wks and neonatal mortality also increased. Late PTB and LBW were not related to measures of periodontal disease. Adjustment for demographic characteristics did not significantly change the relationships. CONCLUSION Pregnant Pakistani women have high levels of moderate to severe dental disease. Both stillbirth and neonatal mortality increased with the severity of periodontal disease. PMID:18455527

  19. A Comparative White Matter Study with Parkinson's disease, Parkinson's Disease with Dementia and Alzheimer's Disease

    PubMed Central

    Perea, Rodrigo D; Rada, Rebecca C; Wilson, Jessica; Vidoni, Eric D; Morris, Jill K; Lyons, Kelly E; Pahwa, Rajesh; Burns, Jeffrey M; Honea, Robyn A

    2014-01-01

    Alzheimer's disease (AD) and Parkinson's disease (PD) are among the most common neurodegenerative disorders affecting older populations. AD is characterized by impaired memory and cognitive decline while the primary symptoms of PD include resting tremor, bradykinesia and rigidity. In PD, mild cognitive changes are frequently present, which could progress to dementia (PD dementia (PDD)). PDD and AD dementias are different in pathology although the difference in microstructural changes remains unknown. To further understand these diseases, it is essential to understand the distinct mechanism of their microstructural changes. We used diffusion tensor imaging (DTI) to investigate white matter tract differences between early stage individuals with AD (n=14), PD (n=12), PDD (n=9), and healthy non-demented controls (CON) (n=13). We used whole brain tract based spatial statistics (TBSS) and a region of interest (ROI) analysis focused on the substantia nigra (SN). We found that individuals with PDD had more widespread white matter degeneration compared to PD, AD, and CON. Individuals with AD had few regional abnormalities in the anterior and posterior projections of the corpus callosum while PD and CON did not appear to have significant white matter degeneration when compared to other groups. ROI analyses showed that PDD had the highest diffusivity in the SN and were significantly different from CON. There were no significant ROI differences between CON, PD, or AD. In conclusion, global white matter microstructural deterioration is evident in individuals with PDD, and DTI may provide a means with which to tease out pathological differences between AD and PD dementias. PMID:24724042

  20. Biological Containment Facility for Studying Infectious Disease

    PubMed Central

    Kuehne, Ralph W.

    1973-01-01

    To effectively characterize newly recognized viruses (Marburg, Lassa, etc.) and to study other highly virulent infections for which no effective prophylaxis or therapy exists, special containment facilities must be utilized and conventional techniques modified to minimize risk to laboratory personnel. This paper describes a laboratory suite for such studies, contained within a larger research facility; two separate biological safety cabinet systems, animal rooms support laboratories, change room facilities, shower, air lock, and other safety features are contained in the area. Details of design, construction, airflows, and equipment are described in addition to a discussion of operation, techniques, and modification of laboratory equipment utilized in actual studies. Images PMID:4751785

  1. Generating Transgenic Mouse Models for Studying Celiac Disease.

    PubMed

    Ju, Josephine M; Marietta, Eric V; Murray, Joseph A

    2015-01-01

    This chapter provides a brief overview of current animal models for studying celiac disease, with a focus on generating HLA transgenic mouse models. Human Leukocyte Antigen class II molecules have been a particular target for transgenic mice due to their tight association with celiac disease, and a number of murine models have been developed which had the endogenous MHC class II genes replaced with insertions of disease susceptible HLA class II alleles DQ2 or DQ8. Additionally, transgenic mice that overexpress interleukin-15 (IL-15), a key player in the inflammatory cascade that leads to celiac disease, have also been generated to model a state of chronic inflammation. To explore the contribution of specific bacteria in gluten-sensitive enteropathy, the nude mouse and rat models have been studied in germ-free facilities. These reductionist mouse models allow us to address single factors thought to have crucial roles in celiac disease. No single model has incorporated all of the multiple factors that make up celiac disease. Rather, these mouse models can allow the functional interrogation of specific components of the many stages of, and contributions to, the pathogenic mechanisms that will lead to gluten-dependent enteropathy. Overall, the tools for animal studies in celiac disease are many and varied, and provide ample space for further creativity as well as to characterize the complete and complex pathogenesis of celiac disease. PMID:26498609

  2. 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)

  3. 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.

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

    NASA Astrophysics Data System (ADS)

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

    2012-11-01

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

  5. 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

  6. A Comprehensive Prospective Clinical Study of Hydatid Disease

    PubMed Central

    Kayal, Ankit; Hussain, Akhlak

    2014-01-01

    The actual prevalence of hydatid disease in northern part of India is found more than usually interpreted. The present study has been done on 25 patients suffering from hydatid disease of various sites and treated during June 2009 to November 2011 at JLN Medical College and Hospital, Ajmer, with the aim of studying the clinical manifestations of hydatid disease of different sites and/or organ system and of analysing the morbidity and mortality of hydatid disease. The age, sex, h/o dog contact, duration of hospital stay, clinical presentation, treatment advised, findings and difficulties encountered during operation, and postoperative management of patients as well as morbidity and mortality were recorded and analysed. We observed that the mean age was 40 years. The sex incidence revealed female preponderance in the study (M : F: 1 : 2). Duration of illness in the present study varied from 1 month to 6 years in case of liver hydatid disease. Majority of patients were from rural areas (21) and the remaining (4) from urban areas. Swelling was the most common presenting feature. Incidence of hydatid disease at unusual sites in India is higher than in other parts of the world. PMID:24734188

  7. [Adult Still's disease: study of a series of 11 cases].

    PubMed

    Ben Taarit, C; Turki, S; Ben Maïz, H

    2002-02-01

    Adult Still's disease is a systemic disease of unknown etiology. We report a retrospective study of 11 cases (9 females and 2 males) of adult Still's disease collected during 25 years. The mean age was 36 years. Fever, arthritis and skin rash was constant. Adenopathies and splenomegaly were observed in 2 patients. The laboratory findings was characterized by a constant inflammatory syndrome and leucocytosis. Hypertransaminasemia and hyperferritinemia were observed respectively in 7 cases and 3 cases. Corticosteroids were prescribed in all patients. Methotrexate was administered in 3 patients. Outcome was favorable in 10 cases, death incurred in one patient, secondary to acute hepatitis. PMID:12070839

  8. The study of parasite sharing for surveillance of zoonotic diseases

    NASA Astrophysics Data System (ADS)

    Farrell, Maxwell J.; Berrang-Ford, Lea; Davies, T. Jonathan

    2013-03-01

    Determining the factors that influence the transmission of parasites among hosts is important for directing surveillance of animal parasites before they successfully emerge in humans, and increasing the efficacy of programs for the control and management of zoonotic diseases. Here we present a review of recent advances in the study of parasite sharing, wildlife ecology, and epidemiology that could be extended and incorporated into proactive surveillance frameworks for multi-host infectious diseases. These methods reflect emerging interdisciplinary techniques with significant promise for the identification of future zoonotic parasites and unknown reservoirs of current zoonoses, strategies for the reduction of parasite prevalence and transmission among hosts, and decreasing the burden of infectious diseases.

  9. Insights into kidney diseases from genome-wide association studies.

    PubMed

    Wuttke, Matthias; Köttgen, Anna

    2016-09-01

    Over the past decade, genome-wide association studies (GWAS) have considerably improved our understanding of the genetic basis of kidney function and disease. Population-based studies, used to investigate traits that define chronic kidney disease (CKD), have identified >50 genomic regions in which common genetic variants associate with estimated glomerular filtration rate or urinary albumin-to-creatinine ratio. Case-control studies, used to study specific CKD aetiologies, have yielded risk loci for specific kidney diseases such as IgA nephropathy and membranous nephropathy. In this Review, we summarize important findings from GWAS and clinical and experimental follow-up studies. We also compare risk allele frequency, effect sizes, and specificity in GWAS of CKD-defining traits and GWAS of specific CKD aetiologies and the implications for study design. Genomic regions identified in GWAS of CKD-defining traits can contain causal genes for monogenic kidney diseases. Population-based research on kidney function traits can therefore generate insights into more severe forms of kidney diseases. Experimental follow-up studies have begun to identify causal genes and variants, which are potential therapeutic targets, and suggest mechanisms underlying the high allele frequency of causal variants. GWAS are thus a useful approach to advance knowledge in nephrology. PMID:27477491

  10. 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.

  11. 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

  12. Cost effective assay choice for rare disease study designs.

    PubMed

    Campbell, Desmond D; Porsch, Robert M; Cherny, Stacey S; Capra, Valeria; Merello, Elisa; De Marco, Patrizia; Sham, Pak C; Garcia-Barceló, Maria-Mercè

    2015-01-01

    High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue. We have developed a framework for assay choice that maximises the number of true disease causing mechanisms 'seen', given limited resources. Although straightforward, some of the ramifications of our methodology run counter to received wisdom on study design. We illustrate our methodology with examples, and have built a website allowing calculation of quantities of interest to those designing rare disease studies. PMID:25648394

  13. Chronic Kidney Disease Is Often Unrecognized among Patients with Coronary Heart Disease: The REGARDS Cohort Study

    PubMed Central

    McClellan, William M.; Newsome, Britt B.; McClure, Leslie A.; Cushman, Mary; Howard, George; Audhya, Paul; Abramson, Jerome L.; Warnock, David G.

    2008-01-01

    Introduction Individuals with kidney disease are at increased risk for coronary heart disease (CHD) and CHD is associated with an increased prevalence of chronic kidney disease (CKD). Awareness of CKD may potentially influence diagnostic decisions, life-style changes and pharmacologic interventions targeted at modifiable CHD risk factors. We describe here the degree to which persons with CHD are aware of their CKD. Methods The Reasons for Geographical and Racial Difference in Stroke (REGARDS) cohort study, a population-based sample of US residents aged 45 and older. We included in our analyses 28,112 REGARDS participants recruited as of June 2007. We estimated GFR (eGFR) using the MDRD equation, defined CKD as a GFR <60 ml/min/1.73 m2, and ascertained awareness of chronic kidney disease and coronary heart disease through self-report. We used the odds ratio to compare the association between awareness of kidney disease, as measured by GFR <60 ml/min/1.73 m2, among individuals with and without self-reported CHD by both the presence of CKD and the severity of impaired kidney function. Results Coronary heart disease was reported by 3,803 (14.1%) of subjects, and 11.3% of subjects had CKD by eGFR. Among all individuals with a GFR <60 ml/min/ 1.73 m2, 9.6% reported having been told by a physician that they had kidney disease. Among those with CHD and CKD, 5.0% were aware of their CKD compared to 2.0% in those without CHD [OR (95% CI) = 2.57 (2.08, 3.28)]. This difference persisted after controlling for the level of kidney function [aOR (95% CI) = 1.87 (1.43, 2.41)]. Conclusion There was a high prevalence of CKD and a low prevalence of awareness of kidney disease among older adults in the US population with or without coronary heart disease. These findings support recent recommendations that patients with cardiovascular disease be systematically screened for and educated about CKD. PMID:18663284

  14. 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.

  15. A yeast model for the study of Batten disease.

    PubMed

    Pearce, D A; Sherman, F

    1998-06-01

    Although the CLN3 gene for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995, the function of the corresponding protein still remains elusive. We previously cloned the Saccharomyces cerevisiae homologue to the human CLN3 gene, designated BTN1, which is not essential and whose product is 39% identical and 59% similar to Cln3p. We report that btn1-Delta deletion yeast strains are more resistant to D-(-)-threo-2-amino-1-[p-nitrophenyl]-1,3-propanediol (denoted ANP), a phenotype that is complemented in yeast by the human CLN3 gene. Furthermore, the severity of Batten disease in humans and the degree of ANP resistance in yeast are related when the equivalent amino acid replacements in Cln3p and Btn1p are compared. These results indicate that yeast can be used as a model for the study of Batten disease. PMID:9618513

  16. [Morphological study of bile in the diagnosis of biliary diseases].

    PubMed

    Potekhina, Iu P

    2003-01-01

    The purpose of this work was to study principles of bile structurization in healthy people and patients with various biliary diseases. 160 patients with different biliary diseases and other diseases of the hepatopancreaticoduodenal zone were examined. Samples of gallbladder bile were taken from corpses of young men, who did not have any diseases of the hepatopancreaticoduodenal zone. Their diagnoses were confirmed by an ultrasound morphological study. Bile was studied by the cuneate dehydration and viscosimetric methods. The structure of facies of gallbladder bile under conditions of absence of diseases of the hepatopancreaticoduodenal zone was shown. The facies have a wide convex peripheral zone (a cushion) without any well-defined border. The central part of the facies is amorphous or fine-grained, sometimes with occasional inclusions of larger crystals. Markers of exacerbation of chronic cholecystitis (dendrites in the central zone of bile facies) as well as signs of the presence of a malignant neoplasm touching the bile (large diamond-shaped crystals in the central zone of bile facies where dendrites begin) were discovered. PMID:14556555

  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. Improving translational studies: lessons from rare neuromuscular diseases

    PubMed Central

    Wells, Dominic

    2015-01-01

    ABSTRACT Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are no effective methods of treatment. Pharmaceutical companies are increasingly focussing on the development of therapies for the more than 7000 rare diseases. Because the majority of these are the result of single gene disorders, the exceptional ability to manipulate the mouse genome means that many such studies will take place in the laboratory mouse. But how good are the mouse models and how useful are they in assessing the potential for translational medicine? In this Editorial, I will discuss current difficulties in translational research as well as examples of good laboratory practice and guidelines that are being implemented to improve the translational potential of animal studies in the field of neuromuscular rare diseases. This could represent a potentially useful approach for adoption by other disease fields to achieve a greater success rate in translational studies. PMID:26438690

  19. A Metabolic Study of Huntington’s Disease

    PubMed Central

    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

    Background 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. Methods 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. Results 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. Conclusions 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

  20. Pulse oximetry in a cohort study of sickle cell disease.

    PubMed

    Homi, J; Levee, L; Higgs, D; Thomas, P; Serjeant, G

    1997-03-01

    Oxygen saturation was determined by pulse oximetry in a representative sample of Jamaican patients with steady-state sickle cell disease in a cohort study from birth. There were 220 with homozygous sickle cell (SS) disease and 142 with sickle cell-haemoglobin C (SC) disease aged 9-18 years, and 122 with a normal haemoglobin (AA) genotype aged 15-18 years. Pulse oximetry (SpO2) values were lower in SS disease (mean [95% confidence interval], 92.5 [92.0-93.0]) than in SC disease (96.7[96.5-96.9]) or AA controls (97.1 [96.8-97.3]). Inhalation of 100% oxygen in SS patients with O2 saturations below 90% consistently increased saturation to 99-100%. In SS disease, SpO2 correlated positively with haemoglobin and fetal haemoglobin and negatively with reticulocyte counts but not with MCHC, MCV or bilirubin level. Mean SpO2 in SS subjects with a normal alpha globin gene complement (mean [SD], 91.7 [3.9]%) was lower than in heterozygotes (93.4 [4.0]%) or homozygotes (96.1 [3.0]%) for alpha+ thalassaemia, the effects of alpha-thalassaemia not being explained by differences in haemoglobin or MCHC. In SS disease, SpO2 levels were not associated with age (within this age range), sex, number of sick clinic visits or number of hospital admissions. Higher SpO2 levels were associated with greater height and weight, more frequent painful crises and less frequent acute chest syndrome, but these associations were not significant after adjustment for haemoglobin level. Desaturation is common in steady-state SS disease and knowledge of the individual's steady-state value may be important in the interpreting low values during acute complications. PMID:9146942

  1. 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

  2. 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. PMID:18457702

  3. 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.

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

    PubMed

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

    2016-03-01

    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

  5. 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

  6. Family Study of Platelet Membrane Fluidity in Alzheimer's Disease

    NASA Astrophysics Data System (ADS)

    Zubenko, George S.; Wusylko, Michael; Cohen, Bruce M.; Boller, Francois; Teply, Ivana

    1987-10-01

    The fluorescence anisotropy of 1,6-diphenyl-1,3,5-hexatriene in labeled platelet membranes, an index of membrane fluidity, identifies a prominent subgroup of patients with Alzheimer's disease who manifest distinct clinical features. In a family study, the prevalence of this platelet membrane abnormality was 3.2 to 11.5 times higher in asymptomatic, first-degree relatives of probands with Alzheimer's disease than in neurologically healthy control subjects chosen without regard to family history of dementia. The pattern of the platelet membrane abnormality within families was consistent with that of a fully penetrant autosomal dominant trait. Thus, this abnormality of platelet membranes may be an inherited factor that is related to the development of Alzheimer's disease.

  7. Gout secondary to chronic renal disease: studies on urate metabolism.

    PubMed

    Sorensen, L F

    1980-10-01

    A report of 20 cases of gout considered to be secondary to chronic renal disease is presented. Studies of renal function and of uric acid metabolism were carried out in 16 patients. The daily production of urate remained within normal limits in the face of progressive renal dysfunction. Renal excretion of uric acid was decreased to a mean of 35.5% of the turnover. The cumulative urinary recovery of intravenously injected 14C-uric acid averaged 32.0%. In 3 patients 14C was successively retrieved in urinary allantoinand urea, in carbon dioxide of expired air, and in faeces. As in normal man, carbon dioxide and ammonia were the principal uricolytic products. The extrarenal excretion of uric acid assumes a greater role in chronic renal disease and eventually becomes the major route of elimination of uric acid. The possibility that gout may be secondary to intrinsic renal disease should be entertained when azotaemia is present. PMID:7436573

  8. 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

  9. [Overview of diet-related study in Crohn's disease].

    PubMed

    Li, Guanwei; Ren, Jian'an; Li, Jieshou

    2015-12-01

    Crohn's disease (CD) is a chronic inflammatory disorder affecting any part of the digestive tract which relapses and remits throughout the disease course. It occurs in individuals with genetic susceptibility and involves an abnormal response of the immune system to the external environment. Besides, improved hygiene, abuse of antibiotics, westernization of diet with high sugar and fat are thought to be associated with rapidly increasing incidence of CD. Certain components of foods may influence gut inflammation through antigen presentation and alteration of the microflora. This article aims mainly to review diet-related clinical studies to outline its roles in the pathogenesis and progress of disease, and then give some evidence-based suggestions. PMID:26704014

  10. 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

  11. [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. PMID:11594003

  12. CHROMOBLASTOMYCOSIS: A NEGLECTED TROPICAL DISEASE

    PubMed Central

    QUEIROZ-TELLES, Flavio

    2015-01-01

    SUMMARY Chromoblastomycosis (CMB) is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous fungi occurring mainly in tropical and subtropical zones worldwide. If not diagnosed at early stages, patients with CBM require long term therapy with systemic antifungals, sometimes associated with physical methods. Unlike other neglected endemic mycoses, comparative clinical trials have not been performed for this disease. Nowadays, therapy is based on a few open trials and on expert opinion. Itraconazole either as monotherapy or associated with other drugs, or with physical methods, is widely used. Recently, photodynamic therapy has been successfully employed in combination with antifungals in patients presenting with CBM. In the present revision the most used therapeutic options against CBM are reviewed as well as the several factors that may have impact on the patient's outcome. PMID:26465369

  13. CHROMOBLASTOMYCOSIS: A NEGLECTED TROPICAL DISEASE.

    PubMed

    Queiroz-Telles, Flavio

    2015-09-01

    Chromoblastomycosis (CMB) is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous fungi occurring mainly in tropical and subtropical zones worldwide. If not diagnosed at early stages, patients with CBM require long term therapy with systemic antifungals, sometimes associated with physical methods. Unlike other neglected endemic mycoses, comparative clinical trials have not been performed for this disease. Nowadays, therapy is based on a few open trials and on expert opinion. Itraconazole either as monotherapy or associated with other drugs, or with physical methods, is widely used. Recently, photodynamic therapy has been successfully employed in combination with antifungals in patients presenting with CBM. In the present revision the most used therapeutic options against CBM are reviewed as well as the several factors that may have impact on the patient's outcome. PMID:26465369

  14. Metabolic disease in mental retardation: a study in Texas.

    PubMed

    Farrell, G; Johnson, R; Fabre, L; Farmer, R; Pellizzari, E; Stephenson, M

    1971-05-01

    Reported are the results of a study of patients admitted to the State Schools for the Mentally Retarded in Texas, over a two-year period from 1968-1970. Of 2029 cases, 185 were found on a detection battery screening to have possible metabolic disease. The report summarizes the findings on 93 cases studied in the metabolic ward at the Texas Research Institute. PMID:5173196

  15. Scintigraphic studies of inflammation in diffuse lung disease

    SciTech Connect

    Line, B.R. )

    1991-09-01

    67Ga lung scintigraphy is an established means to assess alveolar inflammation in a wide variety of diffuse lung diseases. It can be used to monitor the extent and activity of the alveolitis during the course of the disease and as a follow-up evaluation to therapy. Although the mechanism of 67Ga localization is not established firmly, the isotope appears to act as a tracer for disturbed protein and cellular fluxes within the interstitium and alveolar spaces. The radiolabeled aerosol study may also be applied to the study of these fluxes as a reflection of inflammation and injury. Although Tc-DTPA clearance studies are highly sensitive to lung injury, they may be too nonspecific to separate lung injury from other physiologic processes effectively. 117 references.

  16. 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

  17. Plasma metabolomics in human pulmonary tuberculosis disease: a pilot study.

    PubMed

    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

  18. 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. PMID:26255039

  19. 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

  20. [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

  1. [Alcohol and wine and cardiovascular diseases in epidemiologic studies].

    PubMed

    Sinkiewicz, Władysław; Weglarz, Magdalena

    2009-01-01

    Moderate alcohol intake is associated with lower risk of cardiovascular diseases. A large number of epidemiologic studies have demonstrated a U- or J-shaped relation between alcohol consumption and total mortality, coronary heart disease and ischemic stroke. The lowest risk occurs in those who drink one or two drinks per day. Many studies have dealt with the question if specific alcoholic beverage (vodka, beer, wine, liquor) might offer a greater protection. Red wine containing polyphenols is believed to possess exceptional cardioprotective properties, especially if consumed with meals. However, alcohol beverages should not be recommended to patients as a substitute for the well-proven, cardiovascular risk reducing alternatives such as low fat diet, exercise and pharmacotherapy. PMID:19739580

  2. Peyronie's disease: a case study with clinical implications.

    PubMed

    Fisher, D Eileen; Lofton, Susan P; Hale, Theresa; Durant, Norma; Grant, LaVerne F

    2008-04-01

    Peyronie's disease involves the development of fibrous plaques in the connective tissue of the penis usually near the dorsal midline of the penile shaft in middle-aged and older men. This case study describes a 57-year-old man who presented with a history of prostatitis and complaints of anxiety related to penile pain and erectile difficulties. The diagnostic work-up and clinical interaction are described. PMID:18488585

  3. Homoarginine and Progression of Chronic Kidney Disease: Results from the Mild to Moderate Kidney Disease Study

    PubMed Central

    Drechsler, Christiane; Kollerits, Barbara; Meinitzer, Andreas; März, Winfried; Ritz, Eberhard; König, Paul; Neyer, Ulrich; Pilz, Stefan; Wanner, Christoph; Kronenberg, Florian

    2013-01-01

    Background Homoarginine is an amino acid derivative mainly synthesized in the kidney. It is suggested to increase nitric oxide availability, enhance endothelial function and to protect against cardiovascular diseases. We aimed to investigate the relation between homoarginine, kidney function and progression of chronic kidney disease (CKD). Methods We measured plasma homoarginine concentrations in baseline samples of the Mild to Moderate Kidney Disease (MMKD) Study, a prospective cohort study of 227 patients with CKD in Europe. Homoarginine concentrations were available in 182 of the baseline samples and in 139 of the prospectively-followed patients. We correlated homoarginine concentrations to parameters of kidney function. The association between homoarginine and progression of CKD was assessed during a follow-up of up to seven years (median 4.45 years, interquartile range 2.54–5.19) using Cox regression analysis. Progression of CKD was defined as doubling of baseline serum creatinine and/or end-stage renal disease. Results Study participants were at baseline on average 47±13 years old and 65% were male. Mean±standard deviation of homoarginine concentrations were 2.5±1.1 µmol/L and concentrations were incrementally lower at lower levels of GFR with mean concentrations of 2.90±1.02 µmol/L (GFR>90 ml/min), 2.64±1.06 µmol/L (GFR 60–90 ml/min), 2.52±1.24 µmol/L (GFR 30–60 ml/min) and 2.05±0.78 µmol/L (GFR<30 ml/min), respectively (p = 0.002). The age- and sex-adjusted risk to reach the renal endpoint was significantly higher by 62% with each decrease by one standard deviation (1.1 µmol/L) of homoarginine (HR 1.62, 95% CI 1.16–2.27, p = 0.005). This association was independent of proteinuria (HR 1.56, 95% CI 1.11–2.20, p = 0.01), and was slightly attenuated when adjusting for GFR (HR 1.40 (95% CI 0.98–1.98, p = 0.06). Conclusions Homoarginine concentrations are directly correlated with kidney function and are significantly

  4. 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

  5. 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

  6. Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party.

    PubMed

    Daikeler, Thomas; Labopin, Myriam; Di Gioia, Massimo; Abinun, Mario; Alexander, Tobias; Miniati, Irene; Gualandi, Francesca; Fassas, Athanasios; Martin, Thierry; Schwarze, Carl Philipp; Wulffraat, Nico; Buch, Maya; Sampol, Antonia; Carreras, Enric; Dubois, Benedicte; Gruhn, Bernd; Güngör, Tayfun; Pohlreich, David; Schuerwegh, Annemie; Snarski, Emilian; Snowden, John; Veys, Paul; Fasth, Anders; Lenhoff, Stig; Messina, Chiara; Voswinkel, Jan; Badoglio, Manuela; Henes, Jörg; Launay, David; Tyndall, Alan; Gluckman, Eliane; Farge, Dominique

    2011-08-11

    To specify the incidence and risk factors for secondary autoimmune diseases (ADs) after HSCT for a primary AD, we retrospectively analyzed AD patients treated by HSCT reported to EBMT from 1995 to 2009 with at least 1 secondary AD (cases) and those without (controls). After autologous HSCT, 29 of 347 patients developed at least 1 secondary AD within 21.9 (0.6-49) months and after allogeneic HSCT, 3 of 16 patients. The observed secondary ADs included: autoimmune hemolytic anemia (n = 3), acquired hemophilia (n = 3), autoimmune thrombocytopenia (n = 3), antiphospholipid syndrome (n = 2), thyroiditis (n = 12), blocking thyroid-stimulating hormone receptor antibody (n = 1), Graves disease (n = 2), myasthenia gravis (n = 1), rheumatoid arthritis (n = 2), sarcoidosis (n = 2), vasculitis (n = 1), psoriasis (n = 1), and psoriatic arthritis (n = 1). After autologous HSCT for primary AD, the cumulative incidence of secondary AD was 9.8% ± 2% at 5 years. Lupus erythematosus as primary AD, and antithymocyte globulin use plus CD34(+) graft selection were important risk factors for secondary AD by multivariate analysis. With a median follow-up of 6.2 (0.54-11) years after autologous HSCT, 26 of 29 patients with secondary AD were alive, 2 died during their secondary AD (antiphospholipid syndrome, hemophilia), and 1 death was HSCT-related. This European multicenter study underlines the need for careful management and follow-up for secondary AD after HSCT. PMID:21596847

  7. 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

  8. 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

  9. 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

  10. Genome-wide association studies in pediatric chronic kidney disease.

    PubMed

    Gupta, Jayanta; Kanetsky, Peter A; Wuttke, Matthias; Köttgen, Anna; Schaefer, Franz; Wong, Craig S

    2016-08-01

    The genome-wide association study (GWAS) has become an established scientific method that provides an unbiased screen for genetic loci potentially associated with phenotypes of clinical interest, such as chronic kidney disease (CKD). Thus, GWAS provides opportunities to gain new perspectives regarding the genetic architecture of CKD progression by identifying new candidate genes and targets for intervention. As such, it has become an important arm of translational science providing a complementary line of investigation to identify novel therapeutics to treat CKD. In this review, we describe the method and the challenges of performing GWAS in the pediatric CKD population. We also provide an overview of successful GWAS for kidney disease, and we discuss the established pediatric CKD cohorts in North America and Europe that are poised to identify genetic risk variants associated with CKD progression. PMID:26490952

  11. Depression in Parkinson's disease: study of 60 cases.

    PubMed

    Prado, Roberto César Pereira do; Barbosa, Egberto Reis

    2005-09-01

    Depression is very frequent in Parkinson's disease (PD) and largely unrecognized by neurologists, emphasizing the need of an approach to psychiatric symptoms by non psychiatrists in order to ensure an early diagnosis of depression in PD; clinical characteristics and the prevalence rate of depression in PD were evaluated and the relationship of depression in PD with other variables were determined. Sixty PD subjects, who fulfilled the clinical criteria for primary PD, 56.6% males, age range from 44 to 85 years old, in different stages of the disease were investigated. All subjects were submitted to the UPDRS-III, V and VI, Clinical Interview Schedule and the Hamilton depression scale. A significant correlation was found between depression and UPDRS-III, V and VI, anxiety and irritability. The frequency of depression in PD in this study was nearly 40% possessing specific features. Structured interviews and evaluation scales are essential for an accurate diagnosis and proper treatment of depression in PD. PMID:16258653

  12. 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. PMID:27008301

  13. 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

  14. Study Provides Insights into Diagnosis, Treatment of Rare Immune Disease: Autoimmmune Lymphoproliferative Syndrome ...

    MedlinePlus

    ... Related Links​ ALPS Unit, Laboratory of Immunology Autoimmune Diseases Immune System Primary Immune Deficiency Diseases National Library of ... Study Provides Insights Into Diagnosis, Treatment of Rare Immune Disease NIH Scientists Report Findings From 20 Years of ...

  15. 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

  16. 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

  17. Why we should study gait initiation in Parkinson's disease.

    PubMed

    Delval, A; Tard, C; Defebvre, L

    2014-01-01

    The gait initiation process is of particular interest in Parkinson's disease because it combines motor and cognitive components of movement preparation (referred to as anticipatory postural adjustments) and movement execution (the step by itself). Moreover, gait initiation in Parkinson's disease is often affected by motor blocks (a subtype of the "freezing of gait" phenomenon). Gait initiation disturbances in Parkinson's disease include delayed release of anticipatory postural adjustments, hypokinetic anticipatory postural adjustments (reduced scaling) and bradykinetic anticipatory postural adjustments (abnormal timing). The most extreme form is freezing of gait with sometimes the absence of anticipatory postural adjustments. Other phenomena can be also described in some freezing patients (such as multiple anticipatory postural adjustments, described clinically as "knee trembling"). The fact that emotion, attention, external triggers and dopaminergic drugs can all modify this motor program suggests the existence of a complex pathophysiological mechanism that involves not only locomotor networks but also cortical areas and the basal ganglia system. Abnormal coupling between standing posture and anticipatory postural adjustments and between the latter and step execution appears to be a crucial part of the pathophysiological mechanism. Although external cueing appears to be of interest, few studies have provided evidence of the efficacy of various rehabilitation methods in routine care. PMID:24502907

  18. A retrospective study of disease and mortality in zebra finches.

    PubMed

    Prattis, S M; Cioffee, C J; Reinhard, G; Zaoutis, T E

    1990-07-01

    Few published reports exist describing morbidity and mortality in domestic zebra finch colonies maintained in a laboratory animal setting. A retrospective study of clinical disease and mortality in quarantined adult zebra finches was performed. Animals were observed during the 2 week quarantine period and for at least 1 month afterwards (42 days). Signs of disease, including feather and beak abnormalities, oculonasal discharge, increased respiratory rate or stridor, abdominal enlargement, pasty vent, diarrhea, lameness and pectoral muscle loss, were evaluated in our colony during this time. History, physical examination, laboratory testing and postmortem evaluation were used to determine causes of clinical disease. Common clinical findings in sick finches included sudden death, ruffled feathers, increased respiratory rate or gape mouthed breathing, pasty vent or frank diarrhea, and beak discoloration. Organisms frequently isolated were Staphylococcus spp., E. coli, Enterobacter spp., and Coccidia spp. Of the finches that died while in the colony (29.5%), 23.0% died in the first week after arrival. Pathogens frequently isolated from tissues cultured at necropsy included: E. coli, Staphylococcus aureus, Enterobacter spp., and Candida albicans. When observed, pathological lesions consisted of air sacculitis, fibrinopurulent polyserositis and ventriculitis. PMID:2166869

  19. 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

  20. A controlled, longitudinal study of dementia in Parkinson's disease.

    PubMed Central

    Biggins, C A; Boyd, J L; Harrop, F M; Madeley, P; Mindham, R H; Randall, J I; Spokes, E G

    1992-01-01

    Serial assessments of cognition, mood, and disability were carried out at nine month intervals over a 54 month period on a cohort of 87 patients with Parkinson's disease (PD) and a matched cohort of 50 control subjects. Dementia was diagnosed from data by rigorously applying DSM-III-R criteria. Initially, 6% (5/87) PD patients were demented, compared with none of the 50 control subjects. A further 10 PD patients met the dementia criteria during the follow up period; this was equivalent, with survival analysis, to a cumulative incidence of 19%. With the number of person years of observation as the denominator, the incidence was 47.6/1000 person years of observation. None of the control subjects fulfilled dementia criteria during the follow up period. The patients with PD who became demented during follow up were older at onset of Parkinson's disease than patients who did not become demented, had a longer duration of Parkinson's disease, and were older at inclusion to the study. PMID:1640232

  1. [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. PMID:8248581

  2. The use of proteomics to study infectious diseases.

    PubMed

    List, E O; Berryman, D E; Bower, B; Sackmann-Sala, L; Gosney, E; Ding, J; Okada, S; Kopchick, J J

    2008-03-01

    Technology surrounding genomics, or the study of an organism's genome and its gene use, has advanced rapidly resulting in an abundance of readily available genomic data. Although genomics is extremely valuable, proteins are ultimately responsible for controlling most aspects of cellular function. The field of proteomics, or the study of the full array of proteins produced by an organism, has become the premier arena for the identification and characterization of proteins. Yet the task of characterizing a proteomic profile is more complex, in part because many unique proteins can be produced by the same gene product and because proteins have more diverse chemical structures making sequencing and identification more difficult. Proteomic profiles of a particular organism, tissue or cell are influenced by a variety of environmental stimuli, including those brought on by infectious disease. The intent of this review is to highlight applications of proteomics used in the study of pathogenesis, etiology and pathology of infectious disorders. While many infectious agents have been the target of proteomic studies, this review will focus on those infectious diseases which rank among the highest in worldwide mortalities, such as HIV/AIDS, tuberculosis, malaria, measles, and hepatitis. PMID:18473905

  3. Study of neuroprotection of donepezil, a therapy for Alzheimer's disease.

    PubMed

    Akasofu, S; Kimura, M; Kosasa, T; Sawada, K; Ogura, H

    2008-09-25

    Donepezil is a potent acetylcholinesterase inhibitor used for the treatment of Alzheimer's disease. Although acetylcholinesterase inhibitors are thought to be symptomatic treatment of Alzheimer's disease, it is not clear whether they are effective against progressive degeneration of neuronal cells. In this study, we investigated the neuroprotective effects of donepezil against ischemic damage, N-methyl-d-aspartate (NMDA) excitotoxicity, and amyloid-beta (Abeta) toxicity using rat brain primary cultured neurons. Lactate dehydrogenase (LDH) released into the culture medium was measured as a marker of neuronal cell damage. As an ischemic damage model, we used oxygen-glucose deprivation in rat cerebral cortex primary cultured neurons. Pretreatment with donepezil (0.1, 1 and 10 microM) significantly decreased LDH release in a concentration-dependent manner. However, other acetylcholinesterase inhibitors (galantamine, tacrine and rivastigmine) did not significantly decrease LDH release. In a NMDA excitotoxicity model, pretreatment with donepezil (0.1, 1 and 10 microM) decreased the LDH release in a concentration-dependent manner. In binding assay for glutamate receptors, donepezil at 100 microM only slightly inhibited binding to the glycine and polyamine sites on NMDA receptor complex. We further examined the effect of donepezil on Abeta (1-40)- and Abeta (1-42)-induced toxicity in primary cultures of rat septal neurons. Pretreatment with donepezil (0.1, 1 and 10 microM) significantly decreased LDH release induced by Abetas in a concentration-dependent manner. However, other acetylcholinesterase inhibitors (galantamine and tacrine) and NMDA receptor antagonists (memantine and dizocilpine (MK801)) did not significantly decrease LDH release. These results demonstrate that donepezil has protective effects against ischemic damage, glutamate excitotoxicity and Abeta toxicity to rat primary cultured neurons and these effects are not dependent on acetylcholinesterase inhibition

  4. 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

    2016-05-01

    Objective 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. Material and methods 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. Results 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). Conclusions 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. PMID:26825677

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

    PubMed Central

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

    2015-01-01

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

  6. Bibliometric study of the quality of celiac disease research publications.

    PubMed

    Master, Samuel; Lebwohl, Benjamin; Ludvigsson, Jonas F; Green, Peter H

    2013-10-01

    Celiac disease (CD) is common and occurs in both children and adults. A recent bibliometric study revealed that the journal with the most CD articles was the Journal of Pediatric Gastroenterology and Nutrition followed by the American Journal of Gastroenterology, a journal predominantly concerned with adult issues. To assess the quality and complexity of CD, research appearing in these journals used strict published criteria to assess the quality of the research in the 30 most recent research articles in each journal. The authors found that the research reported in these articles was of similar high quality and complexity. PMID:23838822

  7. The zebrafish as a model to study polycystic liver disease.

    PubMed

    Tietz Bogert, Pamela S; Huang, Bing Q; Gradilone, Sergio A; Masyuk, Tetyana V; Moulder, Gary L; Ekker, Stephen C; Larusso, Nicholas F

    2013-06-01

    In the polycystic liver diseases (PLD), genetic defects initiate the formation of cysts in the liver and kidney. In rodent models of PLD (i.e., the PCK rat and Pkd2(WS25/-) mouse), we have studied hepatorenal cystic disease and therapeutic approaches. In this study, we employed zebrafish injected with morpholinos against genes involved in the PLD, including sec63, prkcsh, and pkd1a. We calculated the liver cystic area, and based on our rodent studies, we exposed the embryos to pasireotide [1 μM] or vitamin K3 [100 μM] and assessed the endoplasmic reticulum (ER) in cholangiocytes in embryos treated with 4-phenylbutyrate (4-PBA). Our results show that (a) morpholinos against sec63, prkcsh, and pkd1a eliminate expression of the respective proteins; (b) phenotypic body changes included curved tail and the formation of hepatic cysts in zebrafish larvae; (c) exposure of embryos to pasireotide inhibited hepatic cystogenesis in the zebrafish models; and (d) exposure of embryos to 4-PBA resulted in the ER in cholangiocytes resolving from a curved to a smooth appearance. Our results suggest that the zebrafish model of PLD may provide a means to screen drugs that could inhibit hepatic cystogenesis. PMID:23668934

  8. Merging Mouse Transcriptome Analyses with Parkinson's Disease Linkage Studies

    PubMed Central

    Gherbassi, Daniel; Bhatt, Lavinia; Thuret, Sandrine; Simon, Horst H.

    2007-01-01

    Abstract The hallmark of Parkinson's disease (PD OMIM #168600) is the degeneration of the nigral dopaminergic system affecting approximately 1% of the human population older than 65. In pursuit of genetic factors contributing to PD, linkage and association studies identified several susceptibility genes. The majority of these genes are expressed by the dopamine-producing neurons in the substantia nigra. We, therefore, propose expression by these neurons as a selection criterion, to narrow down, in a rational manner, the number of candidate genes in orphan PD loci, where no mutation has been associated thus far. We determined the corresponding human chromosome locations of 1435 murine cDNA fragments obtained from murine expression analyses of nigral dopaminergic neurons and combined these data with human linkage studies. These fragments represent 19 genes within orphan OMIM PD loci. We used the same approach for independent association studies and determined the genes in neighborhood to the peaks with the highest LOD score value. Our approach did not make any assumptions about disease mechanisms, but it, nevertheless, revealed α-synuclein, NR4A2 (Nurr1), and the tau genes, which had previously been associated to PD. Furthermore, our transcriptome analysis identified several classes of candidate genes for PD mutations and may also provide insight into the molecular pathways active in nigral dopaminergic neurons. PMID:17522092

  9. 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

  10. A study of emotional processing in Parkinson's disease.

    PubMed

    Benke, T; Bösch, S; Andree, B

    1998-10-01

    This study investigated three aspects of processing materials with emotional content in patients with idiopathic Parkinson's disease (PD): the ability to produce affective prosody, to discriminate affectively loaded speech, and to detect the surprise element in humorous sketches. Study aims were the characterization of an emotional processing deficit, and to test whether impaired emotional processing is mental state dependent. Forty-eight nondemented PD patients were divided according to neuropsychological criteria into a sample with intact mental functions and a sample with mild to moderate cognitive deterioration, particularly memory impairment. PD patients with intact cognitive functions were solely impaired at producing affectively loaded sentences, but otherwise displayed normal emotional processing abilities as compared to a clinical control group. PD patients with mental impairment were significantly disabled on all three tasks. The observed emo tional processing deficit was not related to variables like age, disease duration, de gree of functional impairment, motor disability or depression. Active and receptive emotional prosody were significantly correlated. Further strong positive correlations were found between the ability to disclose pictorial humour and tasks of visuoconceptual knowledge, as well as between the ability to produce affectively loaded speech and years of schooling. These results were interpreted as indicating that not only the production of emotional prosody, but also its recognition and the discovery of pictorial humour are reduced in a subgroup of PD patients with mental impairment. Impaired emotional processing skills are mental state dependent findings in PD which seem to be independent from demographic or disease variables and may indicate beginning dementia. PMID:9735177

  11. Endothelialized Microfluidics for Studying Microvascular Interactions in Hematologic Diseases

    PubMed Central

    Tran, Reginald; Ahn, Byungwook; Hardy, Elaissa Trybus; Mannino, Robert; Kita, Ashley; Tsai, Michelle; Lam, Wilbur A.

    2012-01-01

    Advances in microfabrication techniques have enabled the production of inexpensive and reproducible microfluidic systems for conducting biological and biochemical experiments at the micro- and nanoscales 1,2. In addition, microfluidics have also been specifically used to quantitatively analyze hematologic and microvascular processes, because of their ability to easily control the dynamic fluidic environment and biological conditions3-6. As such, researchers have more recently used microfluidic systems to study blood cell deformability, blood cell aggregation, microvascular blood flow, and blood cell-endothelial cell interactions6-13.However, these microfluidic systems either did not include cultured endothelial cells or were larger than the sizescale relevant to microvascular pathologic processes. A microfluidic platform with cultured endothelial cells that accurately recapitulates the cellular, physical, and hemodynamic environment of the microcirculation is needed to further our understanding of the underlying biophysical pathophysiology of hematologic diseases that involve the microvasculature. Here, we report a method to create an "endothelialized" in vitro model of the microvasculature, using a simple, single mask microfabrication process in conjunction with standard endothelial cell culture techniques, to study pathologic biophysical microvascular interactions that occur in hematologic disease. This "microvasculature-on-a-chip" provides the researcher with a robust assay that tightly controls biological as well as biophysical conditions and is operated using a standard syringe pump and brightfield/fluorescence microscopy. Parameters such as microcirculatory hemodynamic conditions, endothelial cell type, blood cell type(s) and concentration(s), drug/inhibitory concentration etc., can all be easily controlled. As such, our microsystem provides a method to quantitatively investigate disease processes in which microvascular flow is impaired due to alterations in

  12. 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

  13. Longitudinal study of circulating protein biomarkers in inflammatory bowel disease

    PubMed Central

    Viennois, Emilie; Baker, Mark T.; Xiao, Bo; Wang, Lixin; Laroui, Hamed; Merlin, Didier

    2014-01-01

    Inflammatory bowel diseases (IBD) are chronic and progressive inflammatory disorders of the gastrointestinal tract. In IBD, protein serological biomarkers could be relevant tools for assessing disease activity, performing early-stage diagnosis and managing the treatment. Using the interleukin-10 knockout (IL-10−/−) mouse, a model that develops a time-dependent IBD-like disorder that predominates in the colon; we performed longitudinal studies of circulating protein biomarkers in IBD. Circulating protein profiles in serum samples collected from 30-, 93-, and 135-day-old IL-10−/− mice were investigated using two-dimensional differential gel electrophoresis and MALDI TOF/TOF tandem mass spectrometry. A total of 15 different proteins were identified and confirmed by ELISA and Western blot to be differentially accumulated in serum samples from mid- to late-stage IL-10−/− mice compared to early non-inflamed IL-10−/− mice. The use of another model of colitis and an extra-intestinal inflammation model validated this biomarker panel and demonstrated that comprised some global inflammatory markers, some intestinal inflammation-specific markers and some chronic intestinal inflammation markers. Statistical analyses using misclassification error rate charts validated the use of these identified proteins as powerful biomarkers of colitis. Unlike standard biomarker screening studies, our analyses identified a panel of proteins that allowed the definition of protein signatures that reflect colitis status. PMID:25230104

  14. 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

  15. Study Protocol: Asymptomatic Intracranial Atherosclerotic Disease in Pakistanis

    PubMed Central

    Kamal, Ayeesha Kamran; Majeed, Farzin; Pasha, Omrana; Islam, Muhammad; Azam, Iqbal; Ilyas, Muhammad Saleem; Hussain, Munawar; Masood, Kamran; Ahmed, Bilal; Nazir, Sumaira; Sajjad, Zafar; Kasner, Scott E.

    2015-01-01

    Background Intracranial atherosclerotic disease (ICAD) is the most frequent subtype of ischemic stroke globally. It is important to describe the determinants of early ICAD as a strategy to prevent strokes from clinically evident and progressive ICAD. Our objective is to report the determinants of asymptomatic ICAD by linking the presence or absence of ICAD on magnetic resonance angiogram (MRA) with detailed risk assessment in asymptomatic adults. Methods This is an observational cross-sectional analytical study. We plan to recruit 200 adult participants from the radiology departments of two tertiary care centers of Karachi, Pakistan. The participants will first be screened for the absence of stroke symptoms via the Questionnaire for Verifying Stroke Free Status (QVSFS). QVSFS negative will be participants will be eligible. After written informed consent, participants will undergo detailed medical, sociodemographic, lifestyle, and anthropometric evaluation by a detailed interview. They will, in addition, undergo MRA to study the presence, degree, and distribution of asymptomatic ICAD. All MRA scans will be reviewed centrally by vascular neurologists blinded to clinical information. These images would be reviewed on DICOM Viewer 3.0 used for calculating the degree of stenosis using Warfarin–Aspirin Symptomatic Intracranial Disease (WASID) study defined criteria employing electronic calipers. A sample size of 200 will achieve 80% power for detecting a minimum difference of 20% in the prevalence of exposure factors (medical and lifestyle) between asymptomatic ICAD positive and ICAD negative persons. This study will generate regional data on risks for ICAD development and prevention in a high-risk susceptible population. Study ID: NCT02072876 PMID:25825629

  16. 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. PMID:27021906

  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. Microsporidia and Its Relation to Crohn's Disease. A Retrospective Study

    PubMed Central

    Andreu-Ballester, Juan C.; Garcia-Ballesteros, Carlos; Amigo, Victoria; Ballester, Ferran; Gil-Borrás, Rafael; Catalán-Serra, Ignacio; Magnet, Angela; Fenoy, Soledad; del Aguila, Carmen; Ferrando-Marco, Jose; Cuéllar, Carmen

    2013-01-01

    Background The cause of Crohn's Disease (CD) remains unknown. Recently a decrease in the global lymphocyte population in the peripheral blood of CD patients has been reported. This decrease was more evident in γδ T lymphocytes, especially γδ CD8+T subsets. Furthermore, a decrease of IL-7 was also observed in these patients. We propose the hypothesis that microsporidia, an obligate intracellular opportunistic parasite recently related to fungi, in CD patients can take advantage of the lymphocytes and IL-7 deficits to proliferate and to contribute to the pathophysiology of this disease. Methods and Findings In this case-control study, serum samples were collected from 36 CD patients and from 36 healthy individuals (controls), IgE and IgG anti-Encephalitozoon antibodies were determined by ELISA; and forty-four intestinal tissue samples were analyzed through real time Polymerase Chain Reaction (PCR), twenty CD patients, nine with others diseases and 15 healthy subjects. We observed that IgE anti-Encephalitozoon levels were significantly higher in patients with CD: 0.386(±0.256) vs control group, 0.201(±0.147), P<0.001. However, IgG anti-Encephalitozoon values were significantly lower in CD patients: 0.361(±0.256) vs control group, 0.876(±0.380), P<0.001. In the group of CD patients, 6/20 (30%) were positive by real time PCR for microsporidia and, all the patients of the control group were negative by real time PCR. Conclusions These results suggest that CD patients are a group at risk for microsporidiasis and, moreover that microsporidia may be involved as a possible etiologic factor of CD. PMID:23637975

  1. Endothelial dysfunction, vascular disease and stroke: the ARTICO study.

    PubMed

    Roquer, J; Segura, T; Serena, J; Castillo, J

    2009-01-01

    Endothelial dysfunction is a fundamental step in the atherosclerotic disease process. Its presence is a risk factor for the development of clinical events, and may represent a marker of atherothrombotic burden. Also, endothelial dysfunction contributes to enhanced plaque vulnerability, may trigger plaque rupture, and favors thrombus formation. The assessment of endothelial vasomotion is a useful marker of atherosclerotic vascular disease. There are different methods to assess endothelial function: endothelium-dependent vasodilatation brachial flow-mediated dilation, cerebrovascular reactivity to L-arginine, and the determination of some biomarkers such as microalbuminuria, platelet function, and C-reactive protein. Endothelial dysfunction has been observed in stroke patients and has been related to stroke physiopathology, stroke subtypes, clinical severity and outcome. Resting ankle-brachial index (ABI) is also considered an indicator of generalized atherosclerosis, and a low ABI is associated with an increase in stroke incidence in the elderly. Despite all these data, there are no studies analyzing the predictive value of ABI for new cardiovascular events in patients after suffering an acute ischemic stroke. ARTICO is an ongoing prospective, observational, multicenter study being performed in 50 Spanish hospitals. The aim of the ARTICO study is to evaluate the prognostic value of a pathological ABI (study will increase the knowledge of patient outcome after ischemic stroke and may help to improve our ability to detect patients at high risk of stroke recurrence or major cardiovascular events. PMID:19342831

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

    ClinicalTrials.gov

    2016-05-11

    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

  3. Applying genomics to the study of complex disease.

    PubMed

    Juran, Brian D; Lazaridis, Konstantinos N

    2007-02-01

    The interest in dissecting the genetic and environmental components of complex human disease is growing, fueled by the emerging advances in the field of genomics and related disciplines. Improved understanding of the pathogenesis of complex liver diseases such as gallbladder stones, nonalcoholic fatty liver disease, viral hepatitis, and hepatocellular carcinoma remains a goal of the clinical and experimental hepatologist alike. Despite the scientific progress and technological advancement, elucidating the underlying mechanisms of complex hepatic diseases from the genomic standpoint will be demanding. Complexity of genomic structure and function, disease heterogeneity, influence of the environment on disease development and progression, and epigenetics all contribute to the challenge. To overcome these obstacles, novel conceptual frameworks regarding biological systems and human diseases are necessary in addition to a coordinated endeavor among different scientific disciplines. Deciphering in an integrated fashion the genomic, transcriptional, and translational aspects of the pathogenesis of complex liver diseases will lead to their better prediction, diagnostics, and treatment. PMID:17295173

  4. 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…

  5. 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

  6. 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

  7. 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.

  8. 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

  9. Poverty and Racial Disparities in Kidney Disease: The REGARDS Study

    PubMed Central

    McClellan, William M.; Newsome, Britt B.; McClure, Leslie A.; Howard, George; Volkova, Nataliya; Audhya, Paul; Warnock, David G.

    2010-01-01

    There are pronounced disparities among black compared to white Americans for risk of end-stage renal disease. This study examines whether similar relationships exist between poverty and racial disparities in chronic kidney disease (CKD) prevalence. Methods We studied 22,538 participants in the REasons for Geographic And Racial Differences in Stroke (REGARDS) cohort study. We defined individual poverty as family income below USD 15,000 and a neighborhood as poor if 25% or more of the households were below the federal poverty level. Results As the estimated glomerular filtration rate (GFR) declined from 50–59 to 10–19 ml/min/ 1.73 m2, the black:white odds ratio (OR) for impaired kidney function increased from 0.74 (95% CI 0.66, 0.84) to 2.96 (95% CI 1.96, 5.57). Controlling for individual income below poverty, community poverty, demographic and comorbid characteristics attenuated the black:white prevalence to an OR of 0.65 (95% CI 0.57, 0.74) among individuals with a GFR of 59–50 ml/min/1.73 m2 and an OR of 2.21 (95% CI 1.25, 3.93) among individuals with a GFR between 10 and 19 ml/min/ 1.73 m2. Conclusion Household, but not community poverty, was independently associated with CKD and attenuated but did not fully account for differences in CKD prevalence between whites and blacks. PMID:20516678

  10. 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

  11. Long-Term Pot Use Tied to Gum Disease in Study

    MedlinePlus

    ... Term Pot Use Tied to Gum Disease in Study Besides gum health, researchers assessed lung function, risk ... gum disease and potential tooth loss, a new study indicates. In an analysis of about 1,000 ...

  12. [Genome-wide association study on complex diseases: study design and genetic markers].

    PubMed

    Yan, Wei-Li

    2008-04-01

    Genome-wide association study used to be a dream of geneticists years ago, but now it came true. Since the first paper reported the finding of genetic variation contributing to human age-related macular degeneration by genome-wide association study in 2005, a numbers of whole genome studies have been published. The present paper reviewed some common comments in whole genome association study on complex diseases, including achievements of genome-wide association studies on complex traits or diseases, principles of study design, selection of genetic marker in genome, and comparisons of different commercial products for whole genome association study. Finally a newly defined genetic variation, copy number variation, was briefly introduced. This paper also summarized the shortcomings of current genome-wide association studies and perspectives of its future. PMID:18424408

  13. 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

  14. 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. PMID:26017202

  15. Subregional Basal Forebrain Atrophy in Alzheimer's Disease: A Multicenter Study

    PubMed Central

    Kilimann, Ingo; Grothe, Michel; Heinsen, Helmut; Alho, Eduardo Joaquim Lopez; Grinberg, Lea; Amaro, Edson; dos Santos, Gláucia Aparecida Bento; da Silva, Rafael Emídio; Mitchell, Alex J.; Frisoni, Giovanni B.; Bokde, Arun L.W.; Fellgiebel, Andreas; Filippi, Massimo; Hampel, Harald; Klöppel, Stefan; Teipel, Stefan J.

    2014-01-01

    Histopathological studies in Alzheimer's disease (AD) suggest severe and region-specific neurodegeneration of the basal forebrain cholinergic system (BFCS). Here, we studied the between-center reliability and diagnostic accuracy of MRI-based BFCS volumetry in a large multicenter data set, including participants with prodromal (n = 41) or clinically manifest AD (n = 134) and 148 cognitively healthy controls. Atrophy was determined using voxel-based and region-of-interest based analyses of high-dimensionally normalized MRI scans using a newly created map of the BFCS based on postmortem in cranio MRI and histology. The AD group showed significant volume reductions of all subregions of the BFCS, which were most pronounced in the posterior nucleus basalis Meynert (NbM). The mild cognitive impairment-AD group showed pronounced volume reductions in the posterior NbM, but preserved volumes of anterior-medial regions. Diagnostic accuracy of posterior NbM volume was superior to hippocampus volume in both groups, despite higher multicenter variability of the BFCS measurements. The data of our study suggest that BFCS morphometry may provide an emerging biomarker in AD. PMID:24503619

  16. 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

  17. [Studies on the active constituents of Momordica charantia L].

    PubMed

    Zhu, Z J; Zhong, Z C; Luo, Z Y; Xiao, Z Y

    1990-01-01

    Five compounds were isolated from the seeds of Momordica charantia. This paper reports their structure determination by spectral (IR, UV, HNMR, CNMR, and MS) and chemical methods. The structures of I, II, III, IV and V were elucidated as vacine, mycose, 3-O-(beta-D-glucopyranosyl)-24 beta-ethyl-5 alpha-cholesta-7, trans-22E, 25 (27)-trien-3 beta-ol, momorcharaside A and momorcharaside B respectively. Mycose was the first time found in this plant and compound III was the first time found in the genus Momordica. IV and V were new compounds. IV exhibited obvious inhibition of DNA and RNA syntheses in S 180 tumor cells in preliminary pharmacological studies. PMID:2104468

  18. 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

  19. Fabry's disease: An ultrastructural study of nerve biopsy

    PubMed Central

    Gayathri, N.; Yasha, T. C.; Kanjalkar, Makarand; Agarwal, Santosh; Sagar, B. K. Chandrashekar; Santosh, Vani; Shankar, S. K.

    2008-01-01

    Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease. PMID:19893666

  20. 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

  1. 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. PMID:21390982

  2. 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

  3. 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.

  4. 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

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

    PubMed Central

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

    2015-01-01

    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

  6. 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. PMID:22281045

  7. Polyphasic study of Chryseobacterium strains isolated from diseased aquatic animals.

    PubMed

    Bernardet, J F; Vancanneyt, M; Matte-Tailliez, O; Grisez, L; Tailliez, P; Bizet, C; Nowakowski, M; Kerouault, B; Swings, J

    2005-09-01

    Members of most Chryseobacterium species occur in aquatic environments or food products, while strains of some other species are pathogenic to humans and animals. A collection of 52 Chryseobacterium sp. strains isolated from diseased fish, one frog isolate and 22 reference strains were included in a polyphasic taxonomy study. Fourteen clusters of strains were delineated following the comparison of whole-cell protein profiles. Most of these clusters were confirmed when the phenotypic and RAPD profiles and the 16S rRNA gene sequences were compared. Fatty acid composition helped differentiate the Chryseobacterium strains from members of related genera. None of the fish isolates could be allocated to the two species previously reported from fish but two isolates belonged to C. joostei, while the frog isolate was identified as Elizabethkingia meningoseptica, a human pathogen previously included in the genus Chryseobacterium. Three clusters grouping from 3 to 13 isolates will probably constitute the core of new Chryseobacterium species but all other isolates occupied separate or uncertain positions in the genus. This study further demonstrated the overall high similarity displayed by most Chryseobacterium strains whatever the technique used and the resulting difficulty in delineating new species in the genus. Members of this bacterial group should be considered potential emergent pathogens in various fish and frog species, farming conditions and geographical areas. PMID:16156122

  8. 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

  9. [Chronic disease impact on partners. An explorative study].

    PubMed

    Pacini, G; Sarmiento, I

    2008-01-01

    In the last years there has been a growing interest of researchers for themes dealing with chronic illness and issues related to that condition. Several authors have studied the difficulties caregivers have to cope with, especially when the patient's partner has this role. That condition would have both physical and psychological consequences, but its real effects seem to depend on a complex set of interacting elements. On the basis of these researches, in the current study we aimed to explore the influence of adult attachment and marital satisfaction on the impact that chronic illness can have on patient's partner and on his/her health-related quality of life. The sample is composed of 40 chronic renal failure patients' partner-caregivers. Each caregiver filled in a battery of tests for finding out the characteristics of adult attachment and marital satisfaction, health-related quality of life and the association between these variables and the impact of chronic illness on partners. Descriptive statistics, correlations and one-sample t test analysis have been performed. Results show a significant correlation between attachment style and caregiving burden; there are no gender differences in disease impact on caregiver. Moreover caregivers seem to have a worse quality of life in comparison to general population. Understanding caregiving can lead, at a future time, to planning specific interventions for both patients and partners, using a global and integrated approach that respects individuals and couples in their biologic, psychological and relational dimensions. PMID:19288778

  10. Trazodone for Alzheimer's disease: a naturalistic follow-up study.

    PubMed

    López-Pousa, Secundino; Garre-Olmo, Josep; Vilalta-Franch, Joan; Turon-Estrada, Antoni; Pericot-Nierga, Imma

    2008-01-01

    This study intended to provide a patient profile for trazodone (a triazolopyridine-derivative of phenylpiperazine) prescription in everyday clinical practice in patients with Alzheimer's disease (AD), and to describe clinical evaluation and the impact on caregiver burden at a 6-month follow-up. A naturalistic, prospective and observational study was performed, with a 6-month follow-up in 396 patients with probable AD, according to the NINCDS-ARDRA criteria. At the baseline and at the 6-month visit, patients were administered the Neuropsychiatric Inventory (NPI) to determine their Behavioral and Psychological Symptoms of Dementia (BPSD), and the Zarit Burden Interview (ZBI) to assess the impact on caregiver burden. Trazodone was prescribed for 6.1% of patients. With respect to the baseline visit, the untreated group showed an increased global NPI score (3.1 points; 95% CI=1.9-4.2; p=0.001) and ZBI score (2.2 points; 95% CI=0.9-3.4; p=0.001). At 6 months, the global NPI and ZBI scores remained unchanged for the treated group. The treated group showed a significant reduction in the NPI irritability subscale score (2.1 points; 95% CI=0.4-3.7; p=0.015). In the clinical practice, trazodone treatment was prescribed for patients with irritability, agitation and disinhibition. After 6 months, patients treated with trazodone exhibited no increase in BPSD frequency or severity, nor was an increase noted in the caregiver burden. PMID:17897735

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

    PubMed Central

    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. PMID:22548201

  12. Human MHC architecture and evolution: implications for disease association studies

    PubMed Central

    Traherne, J A

    2008-01-01

    Major histocompatibility complex (MHC) variation is a key determinant of susceptibility and resistance to a large number of infectious, autoimmune and other diseases. Identification of the MHC variants conferring susceptibility to disease is problematic, due to high levels of variation and linkage disequilibrium. Recent cataloguing and analysis of variation over the complete MHC has facilitated localization of susceptibility loci for autoimmune diseases, and provided insight into the MHC's evolution. This review considers how the unusual genetic characteristics of the MHC impact on strategies to identify variants causing, or contributing to, disease phenotypes. It also considers the MHC in relation to novel mechanisms influencing gene function and regulation, such as epistasis, epigenetics and microRNAs. These developments, along with recent technological advances, shed light on genetic association in complex disease. PMID:18397301

  13. 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.

  14. A clinico-pathological study of subtypes in Parkinson's disease.

    PubMed

    Selikhova, M; Williams, D R; Kempster, P A; Holton, J L; Revesz, T; Lees, A J

    2009-11-01

    We have carried out a systematic review of the case files of 242 donors with pathologically verified Parkinson's disease at the Queen Square Brain Bank for Neurological Disorders in an attempt to corroborate the data-driven subtype classification proposed by Lewis and colleagues (Heterogeneity of Parkinson's disease in the early clinical stages using a data driven approach. J Neurol Neurosurg Psychiatry 2005; 76: 343-8). Cases were segregated into earlier disease onset (25%), tremor dominant (31%), non-tremor dominant (36%) and rapid disease progression without dementia (8%) subgroups. We found a strong association between a non-tremor dominant disease pattern and cognitive disability. The earlier disease onset group had the longest duration to death, and greatest delay to the onset of falls and cognitive decline. Patients with a tremor dominant disease pattern did not live significantly longer than non-tremor dominant patients and showed no difference in mean time to onset of falls and hallucinations. Rapid disease progression was associated with older age, early depression and early midline motor symptoms, and in 70% of the cases, tremulous onset. The non-tremor dominant subgroup had a significantly higher mean pathological grading of cortical Lewy bodies than all other groupings (P < 0.05) and more cortical amyloid-beta plaque load and cerebral amyloid angiopathy than early disease onset and tremor dominant groups (P = 0.047). An analysis of cases with pathologically defined neocortical Lewy body disease confirmed the link between bradykinetic onset, cognitive decline and Lewy body deposition in the neocortex. Although neuropathological examination failed to distinguish the other subtypes, the classification scheme was supported by an analysis of clinical data that were independent of the basic subgroup definitions. PMID:19759203

  15. Regenerative therapies for equine degenerative joint disease: a preliminary study.

    PubMed

    Broeckx, Sarah; Zimmerman, Marieke; Crocetti, Sara; Suls, Marc; Mariën, Tom; Ferguson, Stephen J; Chiers, Koen; Duchateau, Luc; Franco-Obregón, Alfredo; Wuertz, Karin; Spaas, Jan H

    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

  16. Heritability in Inflammatory Bowel Disease: From the First Twin Study to Genome-Wide Association Studies

    PubMed Central

    Trier Moller, Frederik; Andersen, Vibeke; Harbord, Marcus

    2015-01-01

    Abstract: Since Tysk et al's pioneering analysis of the Swedish twin registry, twin and family studies continue to support a strong genetic basis of the inflammatory bowel diseases. The coefficient of heritability for siblings of inflammatory bowel disease probands is 25 to 42 for Crohn's disease and 4 to 15 for ulcerative colitis. Heritability estimates for Crohn's disease and ulcerative colitis from pooled twin studies are 0.75 and 0.67, respectively. However, this is at odds with the much lower heritability estimates from Genome-Wide Association Studies (GWAS). This “missing heritability” is likely due to shortfalls in both family studies and GWAS. The coefficient of heritability fails to account for familial shared environment. Heritability calculations from twin data are based on Falconer's method, with premises that are increasingly understood to be flawed. GWAS based heritability estimates may underestimate heritability due to incomplete linkage disequilibrium, and because some single nucleotide polypeptides (SNPs) do not reach a level of significance to allow detection. SNPs missed by GWAS include common SNPs with low penetrance and rare SNPs with high penetrance. All methods of heritability estimation regard genetic and environmental variance as separate entities, although it is now understood that there is a complex multidirectional interplay between genetic are environmental factors mediated by the microbiota, the epigenome, and the innate and acquired immune systems. Due to the limitations of heritability estimates, it is unlikely that a true value for heritability will be reached. Further work aimed at quantifying the variance explained across GWAS, epigenome-wide, and microbiota-wide association studies will help to define factors leading to inflammatory bowel disease. PMID:25895112

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

    PubMed

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

    2012-07-01

    Diagnosis of invasive aspergillosis (IA) remains a challenge as the clinical manifestations are not specific, and a histological diagnosis is often unfeasible. The 2002 European Organization for Research and Treatment of Cancer (EORTC) and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (MSG) criteria for classification of cases into possible, probable or proven were revised in 2008. Our objective was to analyze the impact of these revisions on the diagnosis of IA. A retrospective analysis of 589 high risk patient-episodes revealed that 125 of 155 'possible' (81%) and 12 of 16 'probable' (75%) cases of IA should be changed to 'non-classifiable' when the new criteria were applied. We concluded, as expected, that the 2008 EORTC/MSG revised definitions reduced the number of cases classified as 'possible' IA, but additionally, there has been a dramatic reduction in 'probable' cases. These changes have significant implications on the interpretation of clinical trial data based on EORTC/MSG classifications. PMID:22074309

  18. The olive knot disease as a model to study the role of interspecies bacterial communities in plant disease

    PubMed Central

    Buonaurio, Roberto; Moretti, Chiaraluce; da Silva, Daniel Passos; Cortese, Chiara; Ramos, Cayo; Venturi, Vittorio

    2015-01-01

    There is an increasing interest in studying interspecies bacterial interactions in diseases of animals and plants as it is believed that the great majority of bacteria found in nature live in complex communities. Plant pathologists have thus far mainly focused on studies involving single species or on their interactions with antagonistic competitors. A bacterial disease used as model to study multispecies interactions is the olive knot disease, caused by Pseudomonas savastanoi pv. savastanoi (Psv). Knots caused by Psv in branches and other aerial parts of the olive trees are an ideal niche not only for the pathogen but also for many other plant-associated bacterial species, mainly belonging to the genera Pantoea, Pectobacterium, Erwinia, and Curtobacterium. The non-pathogenic bacterial species Erwinia toletana, Pantoea agglomerans, and Erwinia oleae, which are frequently isolated inside the olive knots, cooperate with Psv in modulating the disease severity. Co-inoculations of these species with Psv result in bigger knots and better bacterial colonization when compared to single inoculations. Moreover, harmless bacteria co-localize with the pathogen inside the knots, indicating the formation of stable bacterial consortia that may facilitate the exchange of quorum sensing signals and metabolites. Here we discuss the possible role of bacterial communities in the establishment and development of olive knot disease, which we believe could be taking place in many other bacterial plant diseases. PMID:26113855

  19. The olive knot disease as a model to study the role of interspecies bacterial communities in plant disease.

    PubMed

    Buonaurio, Roberto; Moretti, Chiaraluce; da Silva, Daniel Passos; Cortese, Chiara; Ramos, Cayo; Venturi, Vittorio

    2015-01-01

    There is an increasing interest in studying interspecies bacterial interactions in diseases of animals and plants as it is believed that the great majority of bacteria found in nature live in complex communities. Plant pathologists have thus far mainly focused on studies involving single species or on their interactions with antagonistic competitors. A bacterial disease used as model to study multispecies interactions is the olive knot disease, caused by Pseudomonas savastanoi pv. savastanoi (Psv). Knots caused by Psv in branches and other aerial parts of the olive trees are an ideal niche not only for the pathogen but also for many other plant-associated bacterial species, mainly belonging to the genera Pantoea, Pectobacterium, Erwinia, and Curtobacterium. The non-pathogenic bacterial species Erwinia toletana, Pantoea agglomerans, and Erwinia oleae, which are frequently isolated inside the olive knots, cooperate with Psv in modulating the disease severity. Co-inoculations of these species with Psv result in bigger knots and better bacterial colonization when compared to single inoculations. Moreover, harmless bacteria co-localize with the pathogen inside the knots, indicating the formation of stable bacterial consortia that may facilitate the exchange of quorum sensing signals and metabolites. Here we discuss the possible role of bacterial communities in the establishment and development of olive knot disease, which we believe could be taking place in many other bacterial plant diseases. PMID:26113855

  20. Levodopa and executive performance in Parkinson's disease: a randomized study.

    PubMed

    Pascual-Sedano, Berta; Kulisevsky, Jaime; Barbanoj, Manel; García-Sánchez, Carmen; Campolongo, Antonia; Gironell, Alexandre; Pagonabarraga, Javier; Gich, Ignasi

    2008-09-01

    Parkinson's disease (PD) patients may experience fluctuations in executive performance after oral levodopa (LD). Their relationship with the pharmacokinetic profile of LD and with distinct cognitive processes associated with frontal-basal ganglia circuits is not well understood. In this randomized, double-blind, crossover study we plotted acute cognitive changes in 14 PD patients challenged with faster (immediate-release, IR) versus slower (controlled-release, CR) increases in LD plasma concentrations. We monitored motor status, LD plasma levels, and performance on four tasks of executive function (Wisconsin Card Sorting Test-WCST, Sternberg test, Stroop and Tower of Hanoi), 1 hr before and over +6 hr after IR and CR-LD dose. Analysis of variance demonstrated significant but divergent changes in the Sternberg (6-digit but not 2- and 4-digit) test: improvement after CR-LD and worsening after IR-LD. Marginal improvement (p = .085) was observed with CR-LD in the WCST, while no significant differences were seen for the Stroop or Tower of Hanoi tests. Executive-related performance after LD challenge may differ depending on the LD time-to-peak plasma concentration and specific task demands. A slower rise in LD levels appears to have a more favorable impact on more difficult working memory tests. These results require replication to determine their generalization. PMID:18764978

  1. 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

  2. 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.

  3. 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.

  4. Animal Models Used to Study Superantigen-Mediated Diseases.

    PubMed

    Brosnahan, Amanda J

    2016-01-01

    Superantigens secreted by Staphylococcus aureus and Streptococcus pyogenes interact with the T-cell receptor and major histocompatibility class II molecules on antigen-presenting cells to elicit a massive cytokine release and activation of T cells in higher numbers than that seen with ordinary antigens. Because of this unique ability, superantigens have been implicated as etiological agents for many different types of diseases, including toxic shock syndrome, infective endocarditis, pneumonia, and inflammatory skin diseases. This review covers the main animal models that have been developed in order to identify the roles of superantigens in human disease. PMID:26676033

  5. [Study of 11 new cases of Kawasaki disease Congolese].

    PubMed

    Mabiala Babela, J R; Ollandzobo Ikobo, L C; Nika, R E; Moyen, G

    2015-10-01

    Kawasaki's disease (KD) is a rarely described entity in Africa. The purpose of this work is to describe the clinical, biological and evolutionary aspects of KD in the Congolese child. This is a retrospective study of 11 cases of KD collected from 2003 to 2014 at the University Hospital of Brazzaville. The diagnosis was based on the criteria proposed by the Mucocutaneous Lymph Node Syndrome Research Commitee and validated by the Center for Disease Control grouping the major criteria originally described by Kawasaki and updated by the American Heart Association. The sex-ratioM/F was 2.7 and the mean age of 16.5 ± 5.9 months (range 9 to 43 months). The average intake time was 12.8 ± 5.9 days (range 6 and 30). In nine cases there was a complete form. The symptoms began with an invasion of the upper airway in 8 cases. Achieving oropharyngeal was in the form of oral enanthema with strawberry tongue and / or angular cheilitis; it was associated with perineal erythema in 7 cases. Reaching the end realized swelling and/or redness and / or peeling finger gloves or flap toes. The latter occurred at an average of 11 ± 3.5 days (range 8 to 16) after the start of the fever. The treatment with acetylsalicylic acid administered to all children, began within varying between 4 and 15 days of admission. The defervescence was obtained after 5.3 ± 2.6 days (range 4 to 11). The average hospital stay was 16.6 ± 9.7 days (range: 11 to 25 days). The evolution after discharge was considered favorable in all cases. However, no control echocardiography was performed. KD remains an ubiquitous condition but with a variable incidence from one continent to another. The arrival of the twodimensional ultrasound should enable the systematic investigation of coronary abnormalities to catch up unnoticed past cases but also to prevent complications related there. PMID:26277709

  6. Food Polyamine and Cardiovascular Disease -An Epidemiological Study-

    PubMed Central

    Soda, Kuniyasu; Kano, Yoshihiko; Chiba, Fumihiro

    2012-01-01

    The purpose of this study was to examine the contribution of dietary polyamines toward preventing cardiovascular disease (CVD). Age-standardized mortality rates as well as other relevant information regarding individuals with CVD were gathered from the World Health Organization and the International Monetary Fund in 48 different European and other Western countries. Food supply data were collected from the database of the United Nations, and the amount of dietary polyamines was estimated by using polyamine concentrations in foods from published sources. The association between CVD mortality and the amount of polyamines was investigated by performing a series of multiple linear regression analyses. Analyses using factors known to modulate the risk of CVD including: Gross Domestic Product (GDP) (standardized regression coefficient (r) = -0.786, p < 0.001) and the amount of fruits, vegetable, nuts, and beans (r = -0.183, p = 0.001) but not including polyamines, showed negative associations with CVD, while smoking rate (r = 0.139, p = 0.041) and whole milk amount (r = 0.131, p = 0.028) showed positive associations with CVD. When the amount of polyamines was added to the analyses as a covariate, GDP (r = -0.864, p < 0.001) and polyamines (r = -0.355, p = 0.007) showed negative associations with CVD, while smoking rate (r = 0.183, p = 0.006) and whole milk (r = 0.113, p = 0.041) showed positive associations with CVD. The inverse association between dietary polyamines and CVD mortality revealed by the present study merits further evaluation. PMID:23121753

  7. ECOLOGIC STUDY OF MESOSCALE ENVIRONMENTS WITH EXCESS DISEASE PREVALENCE

    EPA Science Inventory

    This work employs an ecologic epidemiological approach to assess the relationship between environmental stressors and excess disease prevalence in small communities. Specifically, the childhood leukemia cluster in Fallon Nevada is used as an example; heavy metals (tungsten and c...

  8. Study Compares Drugs for Common Diabetic Eye Disease

    MedlinePlus

    ... other meds for more severe cases of macular edema, research shows To use the sharing features on ... loss of vision from a condition called macular edema. Three drugs for the disease -- Avastin, Eylea and ...

  9. Study of prostatic disease in dogs: 177 cases (1981-1986).

    PubMed

    Krawiec, D R; Heflin, D

    1992-04-15

    Historical and physical signs associated with prostatic disease diagnosed in dogs over a 5.5-year period were defined. One hundred seventy-seven male dogs were determined to have prostatic abnormality. Of the 177 dogs, 87 were determined to have specific prostatic disease. The most common prostatic disease identified in this study was bacterial prostatitis, followed by prostatic cyst, prostatic adenocarcinoma, and benign hyperplasia. The most common prostatic disease identified in neutered dogs was prostatic adenocarcinoma. Mean age at onset of prostatic disease was 8.9 years; statistically significant difference was not observed between age at onset of the various types of prostatic disease identified. Doberman Pinscher was the most common breed with prostate disease. Twenty-nine percent of dogs with a specifically identifiable prostatic disease had signs of systemic illness, 41% had signs of lower urinary tract disease, 28% had signs of gastrointestinal tract abnormalities, and 13% had signs of locomotor difficulty. PMID:1376729

  10. Validating chronic disease ascertainment algorithms for use in the Canadian longitudinal study on aging.

    PubMed

    Oremus, Mark; Postuma, Ronald; Griffith, Lauren; Balion, Cynthia; Wolfson, Christina; Kirkland, Susan; Patterson, Christopher; Shannon, Harry S; Raina, Parminder

    2013-09-01

    We validated seven chronic disease ascertainment algorithms for use in the Canadian Longitudinal Study on Aging. The algorithms pertained to diabetes mellitus type 2, parkinsonism, chronic airflow obstruction (CAO), hand osteoarthritis (OA), hip OA, knee OA, and ischemic heart disease. Our target recruitment was 20 cases and controls per disease; some cases were controls for unrelated diseases. Participants completed interviewer-administered disease symptom and medication use questionnaires. Diabetes cases and controls underwent fasting glucose testing; CAO cases and controls underwent spirometry testing. For each disease, the appropriate algorithm was used to classify participants' disease status (positive or negative for disease). We also calculated sensitivity and specificity using physician diagnosis as the reference standard. The final sample involved 176 participants recruited in three Canadian cities between 2009 and 2011. Most estimated sensitivities and specificities were 80 per cent or more, indicating that the seven algorithms correctly identified individuals with the target disease. PMID:23924995

  11. Assessing candidate serum biomarkers for Alzheimer's disease: a longitudinal study.

    PubMed

    Zabel, Matthew; Schrag, Matthew; Mueller, Claudius; Zhou, Weidong; Crofton, Andrew; Petersen, Floyd; Dickson, April; Kirsch, Wolff M

    2012-01-01

    Because of the growing impact of late onset cognitive loss, considerable effort has been directed toward the development of improved diagnostic techniques for Alzheimer's disease (AD) that may pave the way for earlier (and more effective) therapeutic efforts. Serum-based biomarkers are the least expensive and invasive modality for screening and routine monitoring. We systematically reviewed the literature to assemble a list of serum biomarkers relevant to AD. In parallel, we conducted a proteomic LC-MS/MS analysis of serum collected from neurologically normal subjects and subjects with mild cognitive impairment (MCI) and early AD (n = 6 in all). Complement C3 and alpha-2-macroglobulin were identified from both the literature review and our proteomic screen for further validation. For these two candidates, ELISA was performed on serum collected from a small independent cohort of subjects for longitudinal analysis. Serum was serially collected from neurologically normal subjects (n = 5) and subjects with MCI who were subsequently followed for a period of two years (n = 5) and regrouped into stable MCI and progressive MCI or AD (n = 6). The ability of each marker to predict which subjects with MCI would progress to dementia and which would remain cognitively stable was assessed. Patients with probable cerebral amyloid angiopathy were also identified (n = 3). This preliminary analysis tested the most-promising serum protein biomarkers for AD and we concluded that none are yet ready for use in the clinical diagnosis and management of dementia. However, a more thorough assessment in longitudinal studies with higher statistical power is warranted. PMID:22426016

  12. Pandemic Diseases and the Aviation Network SARS, a case study

    NASA Astrophysics Data System (ADS)

    Hufnagel, Lars; Brockmann, Dirk; Geisel, Theo

    2005-03-01

    We investigate the mechanisms of the worldwide spread of infectious diseases in a modern world in which humans travel on all scales. We introduce a probabilistic model which accounts for the worldwide spread of infectious diseases on the global aviation network. The analysis indicates that a forecast of the geographical spread of an epidemic is indeed possible, provided that local dynamical parameters of the disease such as the basic reproduction number are known. The model consists of local stochastic infection dynamics and stochastic transport of individuals on the worldwide aviation network which takes into account over 95% of the entire the national and international civil aviation traffic. Our simulations of the SARS outbreak are in surprisingly good agreement with published case reports. Despite the fact that the system is stochastic with a high number of degrees of freedom the outcome of a single simulation exhibits only a small magnitude of variability. We show that this is due to the strong heterogeneity of the network ranging from a few two over 25,000 passengers between nodes of the network. Thus, we propose that our model can be employed to predict the worldwide spread of future pandemic diseases and to identify endangered regions in advance. Based on the connectivity of the aviation network we evaluate the performance of different control strategies and show that a quick and focused reaction is essential to inhibit the global spread of infectious diseases.

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

    PubMed Central

    2012-01-01

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

  14. [Environmental epidemiological study on respiratory diseases in two Hungarian towns].

    PubMed

    Posgay, Mária; Varró, Mihály János; Szentmihályi, Renáta; Lang, Zsolt

    2010-03-01

    Authors performed standardized, respiratory and risk factor questionnaire surveys among the adult population of two towns of Hungary: the first in Nyergesújfalu, according to the distance of the flat from asbestos cement factory, and the second in Komárom, a settlement of a smaller burden of industry. They excluded the data of former asbestos industry workers from the calculations. By the analysis of the Nyergesújfalu data they concluded that odds of chronic obstructive pulmonary disease (COPD) symptoms, other illnesses and tumors were not significantly higher among the inhabitants living in the vicinity of the asbestos factory than those living farther from there, based on raw and adjusted comparisons. However, the odds of these health endpoints were significantly and approximately one and a half to two and a half times greater in Nyergesújfalu than in Komárom. Indeed, more of the odds of the investigated risk factors were also greater in Nyergesújfalu than in Komárom. So the aim of this analysis was to compare the odds of COPD and other illnesses' burdens in the two towns adjusted to the checked lifestyle, household and workplace factors. Logistic regression models were used. The adjusted odds of the most COPD symptoms were also significantly greater in Nyergesújfalu than in Komárom. The conclusion is that the role of the environmental asbestos exposure should furthermore not be excluded, influencing the odds of the COPD symptoms of adults who were not exposed to asbestos occupationally. (However, even this study confirms the significant associations between the health endpoints and gender, age, smoking, alcohol consumption, obesity, occupational exposure, indoor mould and heredity.) The need for performing analytic studies, e.g. by transmission electron microscopy, can be put, for how great are, and, how different are the asbestos concentrations in the air of the two towns (this can allude to the former asbestos concentrations in the air), moreover, how

  15. The storage lipids in Tangier disease. A physical chemical study.

    PubMed

    Katz, S S; Small, D M; Brook, J G; Lees, R S

    1977-06-01

    The physical states and phase behavior of the lipids of the spleen, liver, and splenic artery from a 38-yr-old man with Tangier disease were studied. Many intracellular lipid droplets in the smectic liquid crystalline state were identified by polarizing microscopy in macrophages in both the spleen and liver, but not in the splenic artery. The droplets within individual cells melted sharply over a narrow temperature range, indicating a uniform lipid composition of the droplets of each cell. However different cells melted over a wide range, 20-53 degrees C indicating heterogeneity of lipid droplet composition between cells. Furthermore, most of the cells (81%) had droplets in the liquid crystalline state at 37 degrees C. X-ray diffraction studies of splenic tissue at 37 degrees C revealed a diffraction pattern typical of cholesterol esters in the smectic liquid crystalline state. Differential scanning calorimetry of spleen showed a broad reversible transition from 29-52 degrees C, with a maximum mean transition temperature at 42 degrees C, correlating closely with the polarizing microscopy observations. The enthalpy of the transition, 0.86+/-0.07 cal/g of cholesterol ester, was quantitatively similar to that of the liquid crystalline to liquid transition of pure cholesterol esters indicating that nearly all of the cholesterol esters in the tissue were free to undergo the smectic-isotropic phase transition. Lipid compositions of spleen and liver were determined, and when plotted on the cholesterol-phospholipid-cholesterol ester phase diagram, fell within the two phase zone. The two phases, cholesterol ester droplets and phospholipid bilayers were isolated by ultracentrifugation of tissue homogenates. Lipid compositions of the separated phases approximated those predicted by the phase diagram. Extracted lipids from the spleen, when dispersed in water and ultracentrifuged, underwent phase separation in a similar way. Thus (a) most of the storage lipids in the liver and

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

    PubMed Central

    Savino, Adria C.; Fordtran, John S.

    2006-01-01

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

  17. From Molecular Circuit Dysfunction to Disease: Case Studies in Epilepsy, Traumatic Brain Injury, and Alzheimer's Disease.

    PubMed

    Dulla, Chris G; Coulter, Douglas A; Ziburkus, Jokubas

    2016-06-01

    Complex circuitry with feed-forward and feed-back systems regulate neuronal activity throughout the brain. Cell biological, electrical, and neurotransmitter systems enable neural networks to process and drive the entire spectrum of cognitive, behavioral, and motor functions. Simultaneous orchestration of distinct cells and interconnected neural circuits relies on hundreds, if not thousands, of unique molecular interactions. Even single molecule dysfunctions can be disrupting to neural circuit activity, leading to neurological pathology. Here, we sample our current understanding of how molecular aberrations lead to disruptions in networks using three neurological pathologies as exemplars: epilepsy, traumatic brain injury (TBI), and Alzheimer's disease (AD). Epilepsy provides a window into how total destabilization of network balance can occur. TBI is an abrupt physical disruption that manifests in both acute and chronic neurological deficits. Last, in AD progressive cell loss leads to devastating cognitive consequences. Interestingly, all three of these neurological diseases are interrelated. The goal of this review, therefore, is to identify molecular changes that may lead to network dysfunction, elaborate on how altered network activity and circuit structure can contribute to neurological disease, and suggest common threads that may lie at the heart of molecular circuit dysfunction. PMID:25948650

  18. Ten questions for evolutionary studies of disease vulnerability

    PubMed Central

    Nesse, Randolph M

    2011-01-01

    Many evolutionary applications in medicine rely on well-established methods, such as population genetics, phylogenetic analysis, and observing pathogen evolution. Approaches to evolutionary questions about traits that leave bodies vulnerable to disease are less well developed. Strategies for formulating questions and hypotheses remain unsettled, and methods for testing evolutionary hypotheses are unfamiliar to many in medicine. This article uses recent examples to illustrate successful strategies and some common challenges. Ten questions arise in the course of considering hypotheses about traits that leave bodies vulnerable to disease. Addressing them systematically can help minimize confusion and errors. PMID:25567972

  19. A quantitative study of eosinophil polymorphs in Hodgkin's disease.

    PubMed

    Fuggle, W J; Crocker, J; Smith, P J

    1984-03-01

    Eosinophil polymorphonuclear leucocytes (polymorphs) were counted in 45 specimens from patients with Hodgkin's disease and five specimens from patients with reactive follicular hyperplasia. The use of chlorazol fast pink BK, a little known stain for eosinophil polymorphs, combined with image analysis facilitated rapid and reliable counting. Significant differences were found between the mean percentages of eosinophil polymorphs in the Rye subtypes of Hodgkin's disease. The numbers of eosinophil polymorphs in specimens from patients with reactive follicular hyperplasia were very low and could not be counted. PMID:6699190

  20. Use of Caenorhabditis elegans as a model to study Alzheimer’s disease and other neurodegenerative diseases

    PubMed Central

    Alexander, Adanna G.; Marfil, Vanessa; Li, Chris

    2014-01-01

    Advances in research and technology has increased our quality of life, allowed us to combat diseases, and achieve increased longevity. Unfortunately, increased longevity is accompanied by a rise in the incidences of age-related diseases such as Alzheimer’s disease (AD). AD is the sixth leading cause of death, and one of the leading causes of dementia amongst the aged population in the USA. It is a progressive neurodegenerative disorder, characterized by the prevalence of extracellular Aβ plaques and intracellular neurofibrillary tangles, derived from the proteolysis of the amyloid precursor protein (APP) and the hyperphosphorylation of microtubule-associated protein tau, respectively. Despite years of extensive research, the molecular mechanisms that underlie the pathology of AD remain unclear. Model organisms, such as the nematode, Caenorhabditis elegans, present a complementary approach to addressing these questions. C. elegans has many advantages as a model system to study AD and other neurodegenerative diseases. Like their mammalian counterparts, they have complex biochemical pathways, most of which are conserved. Genes in which mutations are correlated with AD have counterparts in C. elegans, including an APP-related gene, apl-1, a tau homolog, ptl-1, and presenilin homologs, such as sel-12 and hop-1. Since the neuronal connectivity in C. elegans has already been established, C. elegans is also advantageous in modeling learning and memory impairments seen during AD. This article addresses the insights C. elegans provide in studying AD and other neurodegenerative diseases. Additionally, we explore the advantages and drawbacks associated with using this model. PMID:25250042

  1. THREE-STATE STUDY OF WATERBORNE DISEASE SURVEILLANCE TECHNIQUES

    EPA Science Inventory

    For a two-year period, the states of Colorado, Vermont and Washington tested the effectiveness of seven surveillance methods for identifying waterborne disease outbreaks. Six of the methods were termed active and utilized procedures soliciting reports of illness. The seventh meth...

  2. Cardiopulmonary Disease in Newborns: A Study in Continuing Medical Education.

    ERIC Educational Resources Information Center

    Weinberg, Armin D.; And Others

    1979-01-01

    A film describing tachypea as an early manifestation of congenital heart disease was shown to physicians and nurses at 27 hospitals during regular continuing medical education activities. Findings from pre-test and post-test data show that need-oriented educational programs can measurably improve the quality of patient care. (Author/LBH)

  3. Emotional processing needs further study in major psychiatric diseases

    PubMed Central

    Thibaut, Florence

    2015-01-01

    Emotions are largely affected in many psychiatric diseases. A better understanding of the neural networks involved in emotion processing is an important way to be able to improve dysfunctions in emotion recognition, as well as expression, associated with major psychiatric disorders. PMID:26869837

  4. Underestimation and undertreatment of pain in HIV disease: multicentre study.

    PubMed Central

    Larue, F.; Fontaine, A.; Colleau, S. M.

    1997-01-01

    OBJECTIVE: To measure the prevalence, severity, and impact of pain on quality of life for HIV patients; to identify factors associated with undertreatment of pain. DESIGN: Multicentre cross sectional survey. SETTINGS: 34 HIV treatment facilities, including inpatient hospital wards, day hospitals, and ambulatory care clinics, in 13 cities throughout France. SUBJECTS: 315 HIV patients at different stages of the disease. MAIN OUTCOME MEASURES: Patients: recorded presence and severity of pain and rated quality of life. Doctors: reported disease status, estimate of pain severity, and analgesic treatment ordered. RESULTS: From 30% (17/56) of outpatients to 62% (73/118) of inpatients reported pain due to HIV disease. Pain severity significantly decreased patients' quality of life. Doctors underestimated pain severity in 52% (70/135) of HIV patients reporting pain. Underestimation of pain severity was more likely for patients who reported moderate (odds ratio 24) or severe pain (165) and less likely for patients whose pain source was identified or who were perceived as more depressed. Of the patients reporting moderate or severe pain, 57% (61/107) did not receive any analgesic treatment; only 22% (23/107) received at least weak opioids. Likelihood of analgesic prescription increased when doctors estimated pain to be more severe and regarded patients as sicker. CONCLUSIONS: Pain is a common and debilitating symptom of HIV disease which is gravely underestimated and undertreated. PMID:9001475

  5. Epilepsy in adults with mitochondrial disease: A cohort study

    PubMed Central

    Devine, Helen E.; Gorman, Grainne S.; Schaefer, Andrew M.; Horvath, Rita; Ng, Yi; Nesbitt, Victoria; Lax, Nichola Z.; McFarland, Robert; Cunningham, Mark O.; Taylor, Robert W.; Turnbull, Douglass M.

    2015-01-01

    Objective The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease. Methods We prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne between January 1, 2005 and January 1, 2008. We then followed this cohort over a 7‐year period, recording primary outcome measures of occurrence of first seizure, status epilepticus, stroke‐like episode, and death. Results Overall prevalence of epilepsy in the cohort was 23.1%. Mean age of epilepsy onset was 29.4 years. Prevalence varied widely between genotypes, with several genotypes having no cases of epilepsy, a prevalence of 34.9% in the most common genotype (m.3243A>G mutation), and 92.3% in the m.8344A>G mutation. Among the cohort as a whole, focal seizures, with or without progression to bilateral convulsive seizures, was the most common seizure type. Conversely, all of the patients with the m.8344A>G mutation and epilepsy experienced myoclonic seizures. Patients with the m.3243A>G mutation remain at high risk of developing stroke‐like episodes (1.16% per year). However, although the standardized mortality ratio for the entire cohort was high (2.86), this ratio did not differ significantly between patients with epilepsy (2.96) and those without (2.83). Interpretation Epilepsy is a common manifestation of mitochondrial disease. It develops early in the disease and, in the case of the m.3243A>G mutation, often presents in the context of a stroke‐like episode or status epilepticus. However, epilepsy does not itself appear to contribute to the increased mortality in mitochondrial disease. Ann Neurol 2015;78:949–957 PMID:26381753

  6. Women, men, and rheumatoid arthritis: analyses of disease activity, disease characteristics, and treatments in the QUEST-RA Study

    PubMed Central

    Sokka, Tuulikki; Toloza, Sergio; Cutolo, Maurizio; Kautiainen, Hannu; Makinen, Heidi; Gogus, Feride; Skakic, Vlado; Badsha, Humeira; Peets, Tõnu; Baranauskaite, Asta; Géher, Pál; Újfalussy, Ilona; Skopouli, Fotini N; Mavrommati, Maria; Alten, Rieke; Pohl, Christof; Sibilia, Jean; Stancati, Andrea; Salaffi, Fausto; Romanowski, Wojciech; Zarowny-Wierzbinska, Danuta; Henrohn, Dan; Bresnihan, Barry; Minnock, Patricia; Knudsen, Lene Surland; Jacobs, Johannes WG; Calvo-Alen, Jaime; Lazovskis, Juris; Pinheiro, Geraldo da Rocha Castelar; Karateev, Dmitry; Andersone, Daina; Rexhepi, Sylejman; Yazici, Yusuf; Pincus, Theodore

    2009-01-01

    Introduction Gender as a predictor of outcomes of rheumatoid arthritis (RA) has evoked considerable interest over the decades. Historically, there is no consensus whether RA is worse in females or males. Recent reports suggest that females are less likely than males to achieve remission. Therefore, we aimed to study possible associations of gender and disease activity, disease characteristics, and treatments of RA in a large multinational cross-sectional cohort of patients with RA called Quantitative Standard Monitoring of Patients with RA (QUEST-RA). Methods The cohort includes clinical and questionnaire data from patients who were seen in usual care, including 6,004 patients at 70 sites in 25 countries as of April 2008. Gender differences were analyzed for American College of Rheumatology Core Data Set measures of disease activity, DAS28 (disease activity score using 28 joint counts), fatigue, the presence of rheumatoid factor, nodules and erosions, and the current use of prednisone, methotrexate, and biologic agents. Results Women had poorer scores than men in all Core Data Set measures. The mean values for females and males were swollen joint count-28 (SJC28) of 4.5 versus 3.8, tender joint count-28 of 6.9 versus 5.4, erythrocyte sedimentation rate of 30 versus 26, Health Assessment Questionnaire of 1.1 versus 0.8, visual analog scales for physician global estimate of 3.0 versus 2.5, pain of 4.3 versus 3.6, patient global status of 4.2 versus 3.7, DAS28 of 4.3 versus 3.8, and fatigue of 4.6 versus 3.7 (P < 0.001). However, effect sizes were small-medium and smallest (0.13) for SJC28. Among patients who had no or minimal disease activity (0 to 1) on SJC28, women had statistically significantly higher mean values compared with men in all other disease activity measures (P < 0.001) and met DAS28 remission less often than men. Rheumatoid factor was equally prevalent among genders. Men had nodules more often than women. Women had erosions more often than men, but

  7. Rapid fecal calprotectin testing to assess for endoscopic disease activity in inflammatory bowel disease: A diagnostic cohort study

    PubMed Central

    Kwapisz, Lukasz; Mosli, Mahmoud; Chande, Nilesh; Yan, Brian; Beaton, Melanie; Micsko, Jessica; Mennill, Pauline W.; Barnett, William; Bax, Kevin; Ponich, Terry; Howard, John; Tirolese, Anthony; Lannigan, Robert; Gregor, James

    2015-01-01

    Background and Aim: With increasing numbers of patients diagnosed with inflammatory bowel disease (IBD), it is important to identify noninvasive methods of detecting disease activity. The aim of this study is to examine the diagnostic accuracy of fecal rapid calprotectin (FC) testing in the detection of endoscopically active IBD. Patients and Methods: All consecutive patients presenting to outpatient clinics with lower gastrointestinal symptoms were prospectively recruited. Patients provided FC samples. Sensitivity (Sn), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) for FC were calculated. Receiver–operator characteristics (ROC) curve was used to identify the ideal FC cutoff that predicts endoscopic disease activity. Correlation between FC and endoscopic disease activity, disease location, and C-reactive protein (CRP) levels were measured. Results: One hundred and twenty-six patients, of whom 52% were females, were included in the final analysis with a mean age of 44.4 ± 16.7 years. Comparing FC to endoscopic findings, the following results were calculated: A cutoff point of 100 μg/g showed Sn = 83%, Sp = 67%, PPV = 65%, and NPV = 85%; and 200 μg/g showed Sn = 66%, Sp = 82%, PPV = 73%, and NPV = 77%. Based on ROC curve, the best FC cutoff point to predict endoscopic disease activity was 140 μg/g. Using this reference, FC levels strongly correlated with colorectal, ileocolonic, and ileal disease and predicted endoscopic activity. Conclusions: FC is an accurate test when used as an initial screening tool for patients suspected of having active IBD. Given its noninvasive nature, it may prove to reduce the need for colonoscopy and be an added tool in the management of IBD. PMID:26655130

  8. Nanoscale studies link amyloid maturity with polyglutamine diseases onset.

    PubMed

    Ruggeri, F S; Vieweg, S; Cendrowska, U; Longo, G; Chiki, A; Lashuel, H A; Dietler, G

    2016-01-01

    The presence of expanded poly-glutamine (polyQ) repeats in proteins is directly linked to the pathogenesis of several neurodegenerative diseases, including Huntington's disease. However, the molecular and structural basis underlying the increased toxicity of aggregates formed by proteins containing expanded polyQ repeats remain poorly understood, in part due to the size and morphological heterogeneity of the aggregates they form in vitro. To address this knowledge gap and technical limitations, we investigated the structural, mechanical and morphological properties of fibrillar aggregates at the single molecule and nanometer scale using the first exon of the Huntingtin protein as a model system (Exon1). Our findings demonstrate a direct correlation of the morphological and mechanical properties of Exon1 aggregates with their structural organization at the single aggregate and nanometric scale and provide novel insights into the molecular and structural basis of Huntingtin Exon1 aggregation and toxicity. PMID:27499269

  9. Nanoscale studies link amyloid maturity with polyglutamine diseases onset

    PubMed Central

    Ruggeri, F. S.; Vieweg, S.; Cendrowska, U.; Longo, G.; Chiki, A.; Lashuel, H. A.; Dietler, G.

    2016-01-01

    The presence of expanded poly-glutamine (polyQ) repeats in proteins is directly linked to the pathogenesis of several neurodegenerative diseases, including Huntington’s disease. However, the molecular and structural basis underlying the increased toxicity of aggregates formed by proteins containing expanded polyQ repeats remain poorly understood, in part due to the size and morphological heterogeneity of the aggregates they form in vitro. To address this knowledge gap and technical limitations, we investigated the structural, mechanical and morphological properties of fibrillar aggregates at the single molecule and nanometer scale using the first exon of the Huntingtin protein as a model system (Exon1). Our findings demonstrate a direct correlation of the morphological and mechanical properties of Exon1 aggregates with their structural organization at the single aggregate and nanometric scale and provide novel insights into the molecular and structural basis of Huntingtin Exon1 aggregation and toxicity. PMID:27499269

  10. High-resolution PET studies in Alzheimer's disease

    SciTech Connect

    Kumar, A.; Schapiro, M.B.; Grady, C.; Haxby, J.V.; Wagner, E.; Salerno, J.A.; Friedland, R.P.; Rapoport, S.I. )

    1991-01-01

    Forty-seven patients with probable dementia of the Alzheimer type (DAT) and 30 healthy age-matched controls were scanned using (18F)-2-fluoro-2-deoxy-D-glucose on a Scanditronix PC 1024-7B tomograph (inplane resolution = 6 mm, axial resolution = 10 mm). Patients and controls were scanned in the resting state with their eyes patched and ears occluded. The regional cerebral metabolic rates for glucose (rCMRglc) in most major neocortical and subcortical gray matter regions, and certain metabolic ratios (rCMRglc/ calcarine rCMRglc), quantitatively discriminated even the mildly demented patients from healthy controls. The association neocortices showed metabolic abnormalities that were more severe than those in the sensorimotor and calcarine regions. All demented groups showed significant neuropsychological disturbances when compared to healthy controls. These data demonstrated widespread metabolic disturbances, particularly in the association areas, relatively early in Alzheimer's disease, and more profound involvement with disease progression.

  11. Initial studies on "six months disease" in sheep.

    PubMed

    Pyakural, S; Singh, N B

    1976-01-17

    Enterotoxaemia in sheep due to Clostridium welchii type D was indicated by field and laboratory investigations in Nepal. Morphological, cultural, biochemical, biological and toxin-producing characteristics observed were used to type the isolates. In anaerobic meat medium, all isolates produced pinkish discoloration of meat. All the strains fermented lactose, maltose, dextrose and sucrose whereas, salicine was fermented only by 17 strains. All but five strains were MR negative. Out of 200 isolated, 166 produced both alpha and epsilon toxins and the remaining 34 non-toxogenic strains are likely to be variants which have lost their toxogenicity. Epidemiologically the local name "Six months disease" and enterotoxaemia are considered to be identical diseases. PMID:176766

  12. Nanoscale studies link amyloid maturity with polyglutamine diseases onset

    NASA Astrophysics Data System (ADS)

    Ruggeri, F. S.; Vieweg, S.; Cendrowska, U.; Longo, G.; Chiki, A.; Lashuel, H. A.; Dietler, G.

    2016-08-01

    The presence of expanded poly-glutamine (polyQ) repeats in proteins is directly linked to the pathogenesis of several neurodegenerative diseases, including Huntington’s disease. However, the molecular and structural basis underlying the increased toxicity of aggregates formed by proteins containing expanded polyQ repeats remain poorly understood, in part due to the size and morphological heterogeneity of the aggregates they form in vitro. To address this knowledge gap and technical limitations, we investigated the structural, mechanical and morphological properties of fibrillar aggregates at the single molecule and nanometer scale using the first exon of the Huntingtin protein as a model system (Exon1). Our findings demonstrate a direct correlation of the morphological and mechanical properties of Exon1 aggregates with their structural organization at the single aggregate and nanometric scale and provide novel insights into the molecular and structural basis of Huntingtin Exon1 aggregation and toxicity.

  13. Use of proteomics in the study of microbial diseases of small ruminants.

    PubMed

    Katsafadou, A I; Tsangaris, G Th; Billinis, C; Fthenakis, G C

    2015-12-14

    Objective of the paper is to review potential applications of proteomics methodologies in the study of microbial diseases of small ruminants. Proteomics has been employed for the elucidation of pathogenesis of various diseases, i.e., in the study of determinants of microbial agents and the study of host-pathogen interactions, as well as in improved disease diagnosis by the identification of biomarkers. Extensive uses of proteomics in sheep and goat diseases have been applied primarily in mastitis, in reproductive infections, in paratuberculosis, in respiratory infections and in scrapie. Mining deeper into the various proteomes and application of new methodological strategies in clinical studies will provide information about disease processes. Improvement of diagnostic techniques, development of vaccines against diseases and establishment of tools for optimum animal production are key-areas for targeted research. PMID:26233680

  14. Clinical Chemical Studies in Aleutian Disease of Mink

    PubMed Central

    Gershbein, Leon L.; Spencer, Kathryn L.

    1964-01-01

    Clinical chemical determinations were carried out on blood removed by cardiac puncture from 49 mink affected with Aleutian disease and 25 normal animals and the respective differences tested for statistical significance. Blood urea nitrogen, serum total protein and globulin, thymol turbidity, glutamic oxalacetic and glutamic pyruvic transaminases and amylase were definitely elevated in the affected animals whereas serum calcium, albumin and A/G ratio were depressed. No statistically significant difference was apparent between the two groups in the comparison of inorganic phosphorus, alkaline and acid phosphatases, bilirubin, total cholesterol and esters, cephalin-cholesterol flocculation (3+ in each case), sodium, potassium, chloride, CO2-combining power, leucine aminopeptidase and lactic dehydrogenase (means: over 2,000 u./ml.). For both the control and affected mink, the distribution of serum lactic dehydrogenase isozymes resembled that of human homologous serum hepatitis. Electrophoresis of serum proteins confirmed earlier findings of hypergammaglobulinemia in the diseased animals but a fast-moving or pre-albumin component, averaging 4% of the total protein, occurred in both the diseased and normal mink. ImagesFigure 1. PMID:17649484

  15. A pilot study of fluticasone propionate in untreated coeliac disease.

    PubMed Central

    Mitchison, H C; al Mardini, H; Gillespie, S; Laker, M; Zaitoun, A; Record, C O

    1991-01-01

    Although gluten withdrawal is likely to remain the mainstay of treatment for adult coeliac disease, many patients find the diet inconvenient and unpalatable and compliance among asymptomatic patients is often poor. Oral corticosteroids have been used for patients who seem to be resistant to gluten withdrawal but preparations with low systemic bioavailability might be preferable. We have given a new glucocorticoid (fluticasone propionate) to 12 adults with untreated coeliac disease for six weeks while they were on a normal diet. One patient defaulted and one suffered a relapse in a pre-existing neoplasm. Excluding these, there was an improvement of symptoms, a mean weight gain of 2 kg, and a rise in albumin of 5.4 g/l. There was a significant improvement in the lactulose/mannitol excretion ratio (p less than 0.05) and in all histological variables examined in paired biopsy specimens (surface and crypt intraepithelial lymphocyte/enterocyte and goblet cell/enterocyte ratios and enterocyte height, p less than 0.01 or better). In six paired specimens sucrase and alkaline phosphatase activity increased in all (p less than 0.05) and lactase in five of six. No appreciable side effects were observed, but two patients had suppressed cortisol values and synacthen responses at six weeks. A further three, with normal pretrial results, had a blunted tetracosactrin response at six weeks. Fluticasone propionate seems worthy of further assessment in the treatment of coeliac disease as an adjunct to gluten withdrawal. PMID:1901562

  16. Population Based Study of 12 Autoimmune Diseases in Sardinia, Italy: Prevalence and Comorbidity

    PubMed Central

    Sardu, Claudia; Cocco, Eleonora; Mereu, Alessandra; Massa, Roberta; Cuccu, Alessandro; Marrosu, Maria Giovanna; Contu, Paolo

    2012-01-01

    Background The limited availability of prevalence data based on a representative sample of the general population, and the limited number of diseases considered in studies about co-morbidity are the critical factors in study of autoimmune diseases. This paper describes the prevalence of 12 autoimmune diseases in a representative sample of the general population in the South of Sardinia, Italy, and tests the hypothesis of an overall association among these diseases. Methods Data were obtained from 21 GPs. The sample included 25,885 people. Prevalence data were expressed with 95% Poisson C.I. The hypothesis of an overall association between autoimmune diseases was tested by evaluating the co-occurrence within individuals. Results Prevalence per 100,000 are: 552 rheumatoid arthritis, 124 ulcerative colitis, 15 Crohn's disease, 464 type 1 diabetes, 81 systemic lupus erythematosus, 124 celiac disease, 35 myasthenia gravis, 939 psoriasis/psoriatic arthritis, 35 systemic sclerosis, 224 multiple sclerosis, 31 Sjogren's syndrome, and 2,619 autoimmune thyroiditis . An overall association between autoimmune disorders was highlighted. Conclusions The comparisons with prevalence reported in current literature do not show outlier values, except possibly for a few diseases like celiac disease and myasthenia gravis. People already affected by a first autoimmune disease have a higher probability of being affected by a second autoimmune disorder. In the present study, the sample size, together with the low overall prevalence of autoimmune diseases in the population, did not allow us to examine which diseases are most frequently associated with other autoimmune diseases. However, this paper makes available an adequate control population for future clinical studies aimed at exploring the co-morbidity of specific pairs of autoimmune diseases. PMID:22396771

  17. A clinical and immunological study of adrenocortical insufficiency (Addison's disease)

    PubMed Central

    Irvine, W. J.; Stewart, A. G.; Scarth, Laura

    1967-01-01

    Fifty-one patients with adrenocortical insufficiency were subdivided into three groups according to the nature of their adrenal disease; twelve patients with idiopathic, twenty-three patients with probable idiopathic and sixteen patients with tuberculous adrenal insufficiency. The importance of objective confirmation of a clinical diagnosis of adrenal insufficiency is stressed and the difficulties of classification of many patients with adult onset adrenal insufficiency are discussed. Idiopathic and probable idiopathic adrenal insufficiency had a sex ratio that was predominantly female (2·5:1) with a mean age of onset of 33 years. Antibodies to adrenal cortex were detected by the methods of immunofluorescence and complement fixation. They were detected in the serum of 80% (20:25) of the females with idiopathic or probable idiopathic adrenal insufficiency and in only 10% (1:10) of the males. The titre of the adrenal antibody was low (≤32) as tested either by immunofluorescence or complement fixation. The serum of only one patient with tuberculous adrenal insufficiency reacted with adrenal tissue in the complement fixation test but the immunofluorescence method showed that this serum reacted with the vascular endothelium and not the secretory cells. No correlation was observed between the duration of the clinical illness and the presence, or absence, or titre of the adrenal antibody. Adrenal antibody was not detected in the sera of fifty-one control subjects matched for age and sex. Four of sixty-nine patients with lymphadenoid goitre, one out of ninety-three patients with diabetes mellitus and none of 230 patients with thyrotoxicosis, primary hypothyroidism or pernicious anaemia had antibody in the serum specific for adrenocortical secretory cells. There is a clinical and immunological overlap between idiopathic adrenal insufficiency and other diseases associated with autoimmune phenomena— thyroid disease, atrophic gastritis and hypoparathyroidism. It is

  18. The Influences of Genetic and Environmental Factors on Methylome-wide Association Studies for Human Diseases

    PubMed Central

    Sun, Yan V.

    2014-01-01

    DNA methylation (DNAm) is an essential epigenetic mechanism for normal development, and its variation may be associated with diseases. High-throughput technology allows robust measurement of DNA methylome in population studies. Methylome-wide association studies (MWAS) scan DNA methylome to detect new epigenetic loci affecting disease susceptibility. MWAS is an emerging approach to unraveling the mechanism linking genetics, environment, and human diseases. Here I review the recent studies of genetic determinants and environmental modifiers of DNAm, and the concept for partitioning genetic and environmental contribution to DNAm. These studies establish the correlation maps between genome and methylome, and enable the interpretation of epigenetic association with disease traits. Recent findings suggested that MWAS was a promising genomic method to identify epigenetic predictors accounting for unexplained disease risk. However, new study designs, analytical methods and shared resources need to be implemented to address the limitations and challenges in future epigenomic epidemiologic studies. PMID:25422794

  19. Increased Burden of Vision Impairment and Eye Diseases in Persons with Chronic Kidney Disease — A Population-Based Study

    PubMed Central

    Wong, Chee Wai; Lamoureux, Ecosse L.; Cheng, Ching-Yu; Cheung, Gemmy Chui Ming; Tai, E. Shyong; Wong, Tien Y.; Sabanayagam, Charumathi

    2016-01-01

    Background Chronic kidney disease (CKD) has been shown to be associated with diabetic retinopathy (DR) and age-related macular degeneration (AMD), leading causes of blindness in elderly adults in previous studies. However, the association of CKD with visual impairment (VI) is not clear. We aimed to examine the association of CKD with VI and other age-related ocular diseases in a population-based sample of Asian adults. Methods We analyzed data from 10,033 adults aged 40–80 years who participated in the Singapore Epidemiology of Eye Diseases (SEED, 2004–11) Study. CKD was defined as an estimated glomerular filtration rate (eGFR) < 60 ml/min/1.73 m2 from serum creatinine. VI was defined as best-corrected visual acuity < 20/40 in the better eye. Cataract, retinopathy, DR, glaucoma and AMD were assessed using standardized ocular examination, retinal photography and visual field assessments. The associations of CKD with VI and ocular conditions were examined using logistic regression models adjusted for age, sex, race, smoking, alcohol intake, education status, body mass index, systolic blood pressure, diabetes mellitus, cholesterol levels and cardiovascular disease. Findings The prevalence of VI and ocular disease were significantly higher in participants with CKD (36.1% and 84.7%) than in those without (12.9% and 54.3%, both p < 0.001). In multivariable models, CKD was significantly associated with VI (odds ratio [95% confidence interval] = 1.34 [1.14–1.58]), any ocular disease (1.28 [1.03–1.61]), cataract (1.24 [1.01–1.52]), any retinopathy (1.77 [1.45–2.15]), and DR (1.94 [1.47–2.54]). Interpretation The burden of VI and eye diseases is high among persons with CKD. Our findings suggest that it may be useful to screen for ocular disease and VI in persons with CKD. PMID:27077127

  20. Forecasting and Analyzing the Disease Burden of Aged Population in China, Based on the 2010 Global Burden of Disease Study

    PubMed Central

    Bao, Chengzhen; Mayila, Mamat; Ye, Zhenhua; Wang, Jianbing; Jin, Mingjuan; He, Wenjiong; Chen, Kun

    2015-01-01

    Background: Forecasting the disease burden of the elderly will contribute to make a comprehensive assessment about physical and mental status of the elderly in China and provide a basis for reducing the negative consequences of aging society to a minimum. Methods: This study collected data from a public database online provided by Global Burden of Disease Study 2010. Grey model GM (1, 1) was used to forecast all-cause and disease-specific rates of disability adjusted life years (DALYs) in 2015 and 2020. Results: After cross-sectional and longitudinal analysis, we found that non-communicable diseases (NCDs) were still the greatest threats in the elderly, followed by injuries. As for 136 predicted causes, more than half of NCDs increased obviously with age, less than a quarter of communicable, material, neonatal, and nutritional disorders or injuries had uptrend. Conclusions: The findings display the health condition of the Chinese elderly in the future, which will provide critical information for scientific and sociological researches on preventing and reducing the risks of aging society. PMID:26121188

  1. Expression study of the Norrie disease (NDP) gene

    SciTech Connect

    Chen, Z.Y.; Battinelli, E.M.; Breakefield, X.O.

    1994-09-01

    Norrie disease is a severe X-linked recessive neurological disorder of unknown pathogenesis. Typically, Norrie disease is characterized by congenital blindness with progressive loss of hearing; over half of Norrie patients also manifest different degrees of mental retardation. The gene for Norrie disease (NDP) comprises three exons, with the first exon being untranslated. The open reading frame is confined within exons 2 and 3. The mouse NDP gene has essentially the same structure as the human. In order to determine the expression pattern of the NDP gene, RT-PCR was performed on mRNAs isolated from brain, retina, cochlea, and liver tissues of mice at different developmental stages. Transcripts were detected in all tissues at all times. This result, however, is different from the results we obtained from human tissue in which all tissues examined showed expression of the NDP gene with the exception of liver. We further analyzed the transcription initiation sites of the mouse NDP gene by random amplification of cDNA ends (RACE) method. The results showed that there are multiple transcription initiation sites associated with the expression of the NDP gene. The transcription start sites are utilized differentially in the tissues at different developmental stages. By using different intronic genomic fragments, we detected a possible second transcript which does not include the untranslated first exon. Northern analysis also revealed that there are at least two abundant transcripts associated with the NDP gene in brain. The results suggest that both multiple transcription initiation sites and different promoters may contribute to the expression of the NDP gene in different tissues during development.

  2. Oligodendrocyte ablation as a tool to study demyelinating diseases

    PubMed Central

    Pajoohesh-Ganji, Ahdeah; Miller, Robert H.

    2016-01-01

    Multiple sclerosis (MS) is an autoimmune mediated neurodegenerative disease characterized by demyelination and oligodendrocyte (OL) loss in the central nervous system and accompanied by local inflammation and infiltration of peripheral immune cells. Although many risk factors and symptoms have been identified in MS, the pathology is complicated and the cause remains unknown. It is also unclear whether OL apoptosis precedes the inflammation or whether the local inflammation is the cause of OL death and demyelination. This review briefly discusses several models that have been developed to specifically ablate oligodendrocytes in an effort to separate the effects of demyelination from inflammation. PMID:27482202

  3. Studying cellular processes and detecting disease with protein microarrays

    SciTech Connect

    Zangar, Richard C.; Varnum, Susan M.; Bollinger, Nikki

    2005-10-31

    Protein microarrays are a rapidly developing analytic tool with diverse applications in biomedical research. These applications include profiling of disease markers or autoimmune responses, understanding molecular pathways, protein modifications and protein activities. One factor that is driving this expanding usage is the wide variety of experimental formats that protein microarrays can take. In this review, we provide a short, conceptual overview of the different approaches for protein microarray. We then examine some of the most significant applications of these microarrays to date, with an emphasis on how global protein analyses can be used to facilitate biomedical research.

  4. Oligodendrocyte ablation as a tool to study demyelinating diseases.

    PubMed

    Pajoohesh-Ganji, Ahdeah; Miller, Robert H

    2016-06-01

    Multiple sclerosis (MS) is an autoimmune mediated neurodegenerative disease characterized by demyelination and oligodendrocyte (OL) loss in the central nervous system and accompanied by local inflammation and infiltration of peripheral immune cells. Although many risk factors and symptoms have been identified in MS, the pathology is complicated and the cause remains unknown. It is also unclear whether OL apoptosis precedes the inflammation or whether the local inflammation is the cause of OL death and demyelination. This review briefly discusses several models that have been developed to specifically ablate oligodendrocytes in an effort to separate the effects of demyelination from inflammation. PMID:27482202

  5. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

    ClinicalTrials.gov

    2016-09-01

    Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome; Beckwith-Wiedemann Syndrome; Emanuel Syndrome; Isolated Aniridia; Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11; Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15; Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion; Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication; Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion; Axenfeld-Rieger Syndrome; Aniridia-intellectual Disability Syndrome; Aniridia - Renal Agenesis - Psychomotor Retardation; Aniridia - Ptosis - Intellectual Disability - Familial Obesity; Aniridia - Cerebellar Ataxia - Intellectual Disability; Aniridia - Absent Patella; Aniridia; Peters Anomaly - Cataract; Peters Anomaly; Potocki-Shaffer Syndrome; Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11; Silver-Russell Syndrome Due to Imprinting Defect of 11p15; Silver-Russell Syndrome Due to 11p15 Microduplication; Syndromic Aniridia; WAGR Syndrome; Wolf

  6. Viability study of a multiplex diagnostic platform for Chagas disease.

    PubMed

    Foti, Leonardo; Fonseca, Bruna de Paula Fonseca e; Nascimento, Lilian Dias; Marques, Christiane de Fatima Silva; da Silva, Edmilson Domingos; Duarte, Cesar Augusto Barros; Probst, Christian M; Goldenberg, Samuel; Pinto, Antônio Gomes; Krieger, Marco Aurélio

    2009-07-01

    A new multiplex assay platform was evaluated to detect Trypanosoma cruzi infection using the recombinant antigens CRA, FRA, CRAFRA fusion and parasite lysate. The antigens presented different sensitivity and specificity in a singleplex test when compared to a serial dilution of two pools comprising 10 positive serum samples and one pool of 10 negative samples. The recombinant protein CRA presented lower sensitivity (55%) in contrast to the 100% specificity and sensitivity of FRA, CRAFRA and T. cruzi lysate. These antigens also showed good results in a duplex test and the duplex test with CRAFRA/T. cruzi lysate showed better performance with 100% specificity and sensitivity, as well as a lower cut-off value in comparison to the other duplex test, FRA/T. cruzi lysate. Hence, when the antigens were used in duplex format, both tests showed decreased cut-off values and no interference between different bead sets, resulting in increasing sensitivity and specificity. The results of these multiplex tests show that they could be an alternative to singleplex detection for Chagas disease, and also indicate the necessity of using multiplex diagnostic tools to increase the sensitivity and specificity for diagnostic tests. Emerging data from the T. cruzi genome and from its ORFeome project will also allow the identification of new antigens for this disease detection application. PMID:19753468

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

    USGS Publications Warehouse

    Post, G.

    1965-01-01

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

  8. A cohort study of chronic diseases for Mongolian people: Outline with baseline data of the Moncohort study.

    PubMed

    Enkh-Oyun, Tsogzolbaatar; Davaalkham, Dambadarjaa; Kotani, Kazuhiko; Aoyama, Yasuko; Tsuboi, Satoshi; Ae, Ryusuke; Davaa, Gombojav; Angarmurun, Dayan; Khuderchuluun, Nanjid; Nakamura, Yosikazu

    2016-09-01

    Many Mongolian people suffer from non-communicable chronic diseases. In order to plan preventive strategies against such diseases, we designed a community-based prospective cohort study of chronic diseases, called the Moncohort study, in Mongolia. This is the first nationwide large-scale cohort study of chronic diseases. This paper describes the study's rationale, design and methods with baseline data. Mongolian residents aged ⩾40years were selected nationwide from many geographic regions in 2009. Data were collected on demographics, socioeconomic status, lifestyle, and anthropometric and biochemical measurements. In total, 2280 Mongolian residents were registered in the survey. Socioeconomic, lifestyle, anthropometric and biochemical characteristics were differentiated by gender and geographical area in descriptive data. Aging, low social class, physical inactivity and infrequent fruits intake were positively associated with histories of chronic disease in men, while aging was positively associated with histories of chronic disease in women. Factors associated with chronic diseases reveal gender-oriented strategies might be needed for their prevention. Detailed prospective analyses will illustrate the impact of risk factors on chronic diseases and lead to evidence for designing programs aimed at preventing chronic diseases and related disorders in Mongolia. PMID:26829279

  9. Metabolic Syndrome Risk for Cardiovascular Disease and Diabetes in the ARIC Study

    PubMed Central

    Ballantyne, Christie M.; Hoogeveen, Ron C.; McNeill, Ann Marie; Heiss, Gerardo; Schmidt, Maria Inês; Duncan, Bruce B.; Pankow, James S.

    2016-01-01

    The metabolic syndrome has been shown to increase risk for cardiovascular disease and diabetes. The Atherosclerosis Risk in Communities study enrolled 15,792 middle-aged Americans in 4 communities in the United States and has followed them for the development of cardiovascular disease and diabetes. Several analyses from this large, biracial, population study have shown that the metabolic syndrome, as well as individual metabolic syndrome components, is predictive of the prevalence and incidence of coronary heart disease, ischemic stroke, carotid artery disease, and diabetes. PMID:18469836

  10. National Burden of Eye Diseases in Iran, 1990–2010; Findings from the Global Burden of Diseases Study 2010

    PubMed Central

    Hatef, Elham; Mohammadi, Seyed-Farzad; Alinia, Cyrus; Ashrafi, Elham; Mohammadi, S-Mehrdad; Lashay, Alireza; Sadeghi-Tari, Ali

    2016-01-01

    Purpose: The disability-adjusted life-years (DALYs) lost due to eye diseases and trends in DALYs in Iran has not been previously reported. The object of this study is to report the burden of eye diseases in Iran and to compare changes from 1990 to 2010 based on age and gender. Methods: Data from the Global Burden of Disease Study 2010 (GBD 2010) are used to report DALYs for cataract, refraction/accommodation (functional) disorders, macular degeneration, and glaucoma. Results: Cataract, refraction/accommodation (functional) disorders, macular degeneration, and glaucoma were the 84th, 87th, 138th, and 151st causes of DALY in 1990 and the 89th, 72nd, 99th, and 137th in 2010, respectively. Cataract accounted for 0.085% of national DALY in 1990 and 0.09% in 2010, refraction/accommodation (functional) disorders accounted for 0.42% in 1990 and 0.47% in 2010, macular degeneration accounted for 0.017% in 1990 and 0.071% in 2010 and glaucoma accounted for 0.0099% in 1990 and 0.025% in 2010. There was a steady increase in DALY with age for each eye disease for both genders and dichotomized for males and females from 1990 to 2010. Conclusions: Epidemiologic transition is reflected in major ophthalmic and blinding diseases in the GBD data for Iran. The burden of macular degeneration is rising, followed by glaucoma. The burden of presbyopia affected individuals past their middle age. The burden of cataract manifested as a slower increase that could be attributable to better access to treatment. PMID:26957846

  11. Risk of hospitalization due to pneumococcal disease in adults in Spain. The CORIENNE study.

    PubMed

    Gil-Prieto, Ruth; Pascual-Garcia, Raquel; Walter, Stefan; Álvaro-Meca, Alejandro; Gil-De-Miguel, Ángel

    2016-07-01

    Pneumococcal disease causes a high burden of disease in adults, leading to high rates of hospitalization, especially in the elderly. All hospital discharges for pneumococcal disease and pneumococcal pneumonia among adults over 18 y of age reported in first diagnostic position in 2011 (January 1, 2011 through December 31, 2011) were obtained. A total of 10,861 hospital discharges due to pneumococcal disease were reported in adults in Spain in 2011 with an annual incidence of hospitalization of 0.285 (CI 95%: 0.280-0.291) per 1,000 population over 18 y old. Case-fatality rate was 8%. Estimated cost of these hospitalisations in 2011 was more than 57 million €. Pneumococcal pneumonia accounted for the 92% of the hospital discharges All the chronic condition studied: asplenia, chronic respiratory disease, chronic heart disease, chronic renal disease, Diabetes Mellitus and immunosuppression, increased the risk of hospitalization in patients with pneumococcal pneumonia, especially in those aged 18-64 y old. Case-fatality rate among adult patients hospitalized with at least one underlying condition was significantly higher than among patients without comorbidities. Our results identified asplenia, chronic respiratory disease, chronic heart disease, chronic renal disease, chronic liver disease, Diabetes Mellitus and immunosuppression as risk groups for hospitalization. Older adults, immunocompromised patients and immunocompetent patients with underlying conditions could benefit from vaccination. PMID:26901683

  12. Bidirectional relationship between chronic kidney and periodontal disease: a study using structural equation modeling.

    PubMed

    Fisher, Monica A; Taylor, George W; West, Brady T; McCarthy, Ellen T

    2011-02-01

    Periodontal disease is associated with diabetes, heart disease, and chronic kidney disease (CKD), relationships postulated to be due in part to vascular inflammation. A bidirectional relationship between CKD and periodontal disease is plausible, though this relationship has not been previously reported. In this study, we assessed the potential for connections between CKD and periodontal disease, and mediators of these relationships using structural equation models of data from 11,211 adults ≥ 18 years of age who participated in the Third National Health and Nutrition Examination Survey. Multivariable logistic regression models were used to test the hypothesis that periodontal disease was independently associated with CKD. Given the potential that the periodontal disease and CKD relationship may be bidirectional, a two-step analytic approach was used that involved tests for mediation and structural equation models to examine more complex direct and indirect effects of periodontal disease on CKD, and vice versa. In two separate models, periodontal disease (adjusted odds ratio of 1.62), edentulism (adjusted odds ratio of 1.83), and the periodontal disease score were associated with CKD when simultaneously adjusting for 14 other factors. Altogether, three of four structural equation models support the hypothesized relationship. Thus, our analyses support a bidirectional relationship between CKD and periodontal disease, mediated by hypertension and the duration of diabetes. PMID:20927035

  13. NIH Researchers Find Resveratrol Helps Protect against Cardiovascular Disease in Animal Study

    MedlinePlus

    ... find Resveratrol helps protect against cardiovascular disease in animal study June 3, 2014 Resveratrol, a compound found ... translatable to humans. Multiple studies on resveratrol in animal models, however, have presented ample evidence to support ...

  14. Study: Longer-Term Antibiotics Won't Ease 'Chronic Lyme Disease'

    MedlinePlus

    ... medlineplus/news/fullstory_158042.html Study: Longer-Term Antibiotics Won't Ease 'Chronic Lyme Disease' Dutch trial ... are unlikely to find relief from longer-term antibiotic therapy, according to a new Dutch study. Although ...

  15. PROSPECTIVE EPIDEMIOLOGICAL STUDY OF ENTERIC DISEASE TRANSMISSION ASSOCIATED WITH SPRINKLER IRRIGATION WITH WASTEWATER: AN OVERVIEW

    EPA Science Inventory

    The report deals with a prospective epidemiological morbidity and serology study, in which the quality of data could be optimally controlled on the possible association between enteric disease incidence and wastewater utilization in agricultural settlements in Israel. The study r...

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

    PubMed Central

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

    2010-01-01

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

  17. Neuroimmunology of Huntington's Disease: Revisiting Evidence from Human Studies

    PubMed Central

    Ribeiro, Fabiola M.; Furr-Stimming, Erin

    2016-01-01

    Huntington's disease (HD) is a neurodegenerative disorder characterized by selective loss of neurons in the striatum and cortex, which leads to progressive motor dysfunction, cognitive decline, and psychiatric disorders. Although the cause of HD is well described—HD is a genetic disorder caused by a trinucleotide (CAG) repeat expansion in the gene encoding for huntingtin (HTT) on chromosome 4p16.3—the ultimate cause of neuronal death is still uncertain. Apart from impairment in systems for handling abnormal proteins, other metabolic pathways and mechanisms might contribute to neurodegeneration and progression of HD. Among these, inflammation seems to play a role in HD pathogenesis. The current review summarizes the available evidence about immune and/or inflammatory changes in HD. HD is associated with increased inflammatory mediators in both the central nervous system and periphery. Accordingly, there have been some attempts to slow HD progression targeting the immune system. PMID:27578922

  18. Neuroimmunology of Huntington's Disease: Revisiting Evidence from Human Studies.

    PubMed

    Rocha, Natalia P; Ribeiro, Fabiola M; Furr-Stimming, Erin; Teixeira, Antonio L

    2016-01-01

    Huntington's disease (HD) is a neurodegenerative disorder characterized by selective loss of neurons in the striatum and cortex, which leads to progressive motor dysfunction, cognitive decline, and psychiatric disorders. Although the cause of HD is well described-HD is a genetic disorder caused by a trinucleotide (CAG) repeat expansion in the gene encoding for huntingtin (HTT) on chromosome 4p16.3-the ultimate cause of neuronal death is still uncertain. Apart from impairment in systems for handling abnormal proteins, other metabolic pathways and mechanisms might contribute to neurodegeneration and progression of HD. Among these, inflammation seems to play a role in HD pathogenesis. The current review summarizes the available evidence about immune and/or inflammatory changes in HD. HD is associated with increased inflammatory mediators in both the central nervous system and periphery. Accordingly, there have been some attempts to slow HD progression targeting the immune system. PMID:27578922

  19. Baseline and longitudinal grey matter changes in newly diagnosed Parkinson's disease: ICICLE-PD study.

    PubMed

    Mak, Elijah; Su, Li; Williams, Guy B; Firbank, Michael J; Lawson, Rachael A; Yarnall, Alison J; Duncan, Gordon W; Owen, Adrian M; Khoo, Tien K; Brooks, David J; Rowe, James B; Barker, Roger A; Burn, David J; O'Brien, John T

    2015-10-01

    converters showed bilateral temporal cortex thinning relative to the Parkinson's disease with no cognitive impairment stable subjects. Although loss of both cortical and subcortical volume occurs in non-demented Parkinson's disease, our longitudinal analyses revealed that Parkinson's disease with mild cognitive impairment shows more extensive atrophy and greater percentage of cortical thinning compared to Parkinson's disease with no cognitive impairment. In particular, an extension of cortical thinning in the temporo-parietal regions in addition to frontal atrophy could be a biomarker in therapeutic studies of mild cognitive impairment in Parkinson's disease for progression towards dementia. PMID:26173861

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

    PubMed Central

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

    2016-01-01

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

  1. Burden of ischemic heart diseases in Iran, 1990-2010: Findings from the Global Burden of Disease study 2010

    PubMed Central

    Maracy, Mohammad Reza; Isfahani, Motahareh Tabar; Kelishadi, Roya; Ghasemian, Anoosheh; Sharifi, Farshad; Shabani, Reihaneh; Djalalinia, Shirin; Majidi, Somayye; Ansari, Hossein; Asayesh, Hamid; Qorbani, Mostafa

    2015-01-01

    Background: Cardiovascular diseases are viewed worldwide as one of the main causes of death. This study aims to report the burden of ischemic heart diseases (IHDs) in Iran by using data of the global burden of disease (GBD) study, 1990-2010. Materials and Methods: The GBD study 2010 was a systematic effort to provide comprehensive data to calculate disability-adjusted life years (DALYs) for diseases and injuries in the world. Years of life lost (YLLs) due to premature mortality were computed on the basis of cause-of-death estimates, using Cause of Death Ensemble model (CODEm). Years lived with disability (YLDs) were assessed by the multiplication of prevalence, the disability weight for a sequel, and the duration of symptoms. A systematic review of published and unpublished data was performed to evaluate the distribution of diseases, and consequently prevalence estimates were calculated with a Bayesian meta-regression method (DisMod-MR). Data from population-based surveys were used for producing disability weights. Uncertainty from all inputs into the calculations of DALYs was disseminated by Monte Carlo simulation techniques. Results: The age-standardized IHDs DALY specified rate decreased 31.25% over 20 years from 1990 to 2010 [from 4720 (95% uncertainty interval (UI): 4,341-5,099) to 3,245 (95% UI: 2,810-3,529) person-years per 100,000]. The decrease were 38.14% among women and 26.87% among men. The age-standardized IHDs death specefied rate decreased by 21.17% [from 222) 95% UI: 207-243 (to 175 (95% UI:152-190) person-years per 100,000] in both the sexes. The age-standardized YLL and YLD rates decreased 32.05% and 4.28%, respectively, in the above period. Conclusion: Despite decreasing age-standardized IHD of mortality, YLL, YLD, and DALY rates from 1990 to 2010, population growth and aging increased the global burden of IHD. YLL has decreased more than IHD deaths and YLD since 1990 but IHD mortality remains the greatest contributor to disease burden. PMID

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

    PubMed Central

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

    2011-01-01

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

  3. A clinical study of auriculotherapy in canine thoracolumbar disc disease.

    PubMed

    Still, J

    1990-09-01

    Auriculotherapy (ear-point acupuncture) was used in dogs (n = 30) suffering from thoracolumbar disc disease, Types I-IV, with a duration of 1 to (47 means = 8) d. During auriculotherapy treatment, no analgaesics or antiinflammatory medications were used. Pressure-sensitive and electrically detectable points on the concave aspect of the external auricle were stimulated by insertion of stainless steel acupuncture needles for 20 min. One to 6 needles were used on each occasion in a maximum of 3 treatments. Fifty per cent of dogs recovered completely and 23% improved. Dogs with backpain only (Type I) and dogs with paresis (Type II) responded best with mean recovery times of 1.7 and 3.2 d respectively. The analgaesic effects were especially impressive. Auriculotherapy failed in 3 (50%) paralysed dogs (Types III and IV) in which post-mortem examinations confirmed focal myelitis and myelomalacia. Four of 12 dogs (33%) recorded relapsed in 1.4 to 26 weeks after successful treatment. PMID:2286993

  4. Motor cortex stimulation for Parkinson's disease: a modelling study

    NASA Astrophysics Data System (ADS)

    Zwartjes, Daphne G. M.; Heida, Tjitske; Feirabend, Hans K. P.; Janssen, Marcus L. F.; Visser-Vandewalle, Veerle; Martens, Hubert C. F.; Veltink, Peter H.

    2012-10-01

    Chronic motor cortex stimulation (MCS) is currently being investigated as a treatment method for Parkinson's disease (PD). Unfortunately, the underlying mechanisms of this treatment are unclear and there are many uncertainties regarding the most effective stimulation parameters and electrode configuration. In this paper, we present a MCS model with a 3D representation of several axonal populations. The model predicts that the activation of either the basket cell or pyramidal tract (PT) type axons is involved in the clinical effect of MCS. We propose stimulation protocols selectively targeting one of these two axon types. To selectively target the basket cell axons, our simulations suggest using either cathodal or bipolar stimulation with the electrode strip placed perpendicular rather than parallel to the gyrus. Furthermore, selectivity can be increased by using multiple cathodes. PT type axons can be selectively targeted with anodal stimulation using electrodes with large contact sizes. Placing the electrode epidurally is advisable over subdural placement. These selective protocols, when practically implemented, can be used to further test which axon type should be activated for clinically effective MCS and can subsequently be applied to optimize treatment. In conclusion, this paper increases insight into the neuronal population involved in the clinical effect of MCS on PD and proposes strategies to improve this therapy.

  5. Study on cholesteryl ester transfer activity in coronary heart disease.

    PubMed

    Fujinuma, Y; Tanaka, A; Maezawa, H

    1991-09-01

    The net cholesterol transfer activity from high density lipoprotein (HDL) to low density lipoprotein (LDL) was determined in the patients with coronary heart disease (CHD) to examine its effect on the pathogenesis of arteriosclerosis. Furthermore, in the CHD patients with high HDL cholesterolemia (more than 60 mg/dl), the HDL particle size was measured by high performance liquid chromatography. A significant cholesteryl ester transfer activity (P less than 0.02) was noted in the CHD patients with low HDL cholesterolemia (less than 60 mg/dl). The rate of cholesteryl ester transfer activity (cholesteryl ester transfer activity/hour) inversely correlated with the serum HDL cholesterol value (r = -0.483, P = 0.096) in the patients with CHD. These results suggest that an increase of CETA caused a low HDL cholesterol value in the CHD patients with low HDL cholesterolemia and it may have the risk of causing CHD. However, an increase of the CETA was not found in the CHD patients with high HDL cholesterolemia compared to the normal subjects, the HDL particle size being significantly greater than that in the normal subjects. In the CHD patients with high HDL cholesterolemia, the large size of HDL may have the risk of causing CHD. PMID:1934199

  6. Cerebrospinal fluid biochemical studies in patients with Parkinson's disease: toward a potential search for biomarkers for this disease

    PubMed Central

    Jiménez-Jiménez, Félix J.; Alonso-Navarro, Hortensia; García-Martín, Elena; Agúndez, José A. G.

    2014-01-01

    The blood-brain barrier supplies brain tissues with nutrients and filters certain compounds from the brain back to the bloodstream. In several neurodegenerative diseases, including Parkinson's disease (PD), there are disruptions of the blood-brain barrier. Cerebrospinal fluid (CSF) has been widely investigated in PD and in other parkinsonian syndromes with the aim of establishing useful biomarkers for an accurate differential diagnosis among these syndromes. This review article summarizes the studies reported on CSF levels of many potential biomarkers of PD. The most consistent findings are: (a) the possible role of CSF urate on the progression of the disease; (b) the possible relations of CSF total tau and phosphotau protein with the progression of PD and with the preservation of cognitive function in PD patients; (c) the possible value of CSF beta-amyloid 1-42 as a useful marker of further cognitive decline in PD patients, and (d) the potential usefulness of CSF neurofilament (NFL) protein levels in the differential diagnosis between PD and other parkinsonian syndromes. Future multicentric, longitudinal, prospective studies with long-term follow-up and neuropathological confirmation would be useful in establishing appropriate biomarkers for PD. PMID:25426023

  7. Evaluating a New Online Course in the Epidemiology of Infectious Diseases by Studying Student Learning Styles

    ERIC Educational Resources Information Center

    Rogers, James W.; Cox, James R.

    2008-01-01

    At RMIT University, students may now elect to study infectious diseases through a course called Outbreak--The Detection and Control of Infectious Disease. Outbreak was designed to simulate in an online class the effective teamwork required to bring resolution to outbreak crises and enable frameworks for future prevention. The appropriateness of…

  8. A Comparison Study of Peer Teaching and Traditional Instruction in Venereal Disease Education

    ERIC Educational Resources Information Center

    Jordheim, Anne

    1976-01-01

    Data from a study investigating peer teaching in venereal disease (VD) education indicate that peer teaching is more effective in imparting knowledge and changing attitudes about VD as a disease, but that both peer teaching and traditional methods are equally ineffective with respect to attitudes toward VD prevention and behavioral intentions. (MB)

  9. An Acoustic Study of the Relationships among Neurologic Disease, Dysarthria Type, and Severity of Dysarthria

    ERIC Educational Resources Information Center

    Kim, Yunjung; Kent, Raymond D.; Weismer, Gary

    2011-01-01

    Purpose: This study examined acoustic predictors of speech intelligibility in speakers with several types of dysarthria secondary to different diseases and conducted classification analysis solely by acoustic measures according to 3 variables (disease, speech severity, and dysarthria type). Method: Speech recordings from 107 speakers with…

  10. Milk production and distribution in low-dose counties for the Hanford Thyroid Disease Study

    SciTech Connect

    Schimmel, J.G. . Social and Economic Sciences Research Center); Beck, D.M. )

    1992-06-01

    This report identifies sources of milk consumed by residents of Ferry, Okanogan, and Stevens Counties. This information will be used by the Hanford thyroid Disease Study to determine whether thyroid disease has been increased among people exposed to past iodine--131 emissions from Hanford Site Facilities.

  11. Distance Caregivers of People with Alzheimer's Disease and Related Dementia: A Phenomenological Study

    ERIC Educational Resources Information Center

    Edwards, Megan

    2010-01-01

    The population of distance caregivers of people with dementia/Alzheimer's disease has not been extensively researched. This research study focused on exploring the lived experience of people caring for someone with dementia/Alzheimer's disease from a distance (defined as 2 or more hours away) to help shed light on this caregiving population. Ten…

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

    PubMed

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

    2016-06-01

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

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

    PubMed Central

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

    2016-01-01

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

  14. Clinical and epidemiological study of chronic heart involvment in Chagas' disease*

    PubMed Central

    Puigbó, J. J.; Rhode, J. R. Nava; Barrios, H. García; Suárez, J. A.; Yépez, C. Gil

    1966-01-01

    It has been estimated that, in vast areas of the American continent, there is a high prevalence of human infection by Trypanosoma cruzi. Such infection can lead to a variety of heart diseases, predominantly with involvement of the myocardium. The aim of the present work was to determine the prevalence of heart disease in two rural areas of Venezuela with a high endemicity of Chagas' disease and to try to determine the natural history of the disease. It is shown that a form of chronic myocardial disease in patients with positive specific serology and good functional capacity is highly prevalent. Electrocardiographic patterns typical of the initial and developing stages of the disease, as well as early abnormalities of the cardiac rhythm, are described and illustrated. The present work forms part of a longitudinal study still in progress. ImagesFIG. 2FIG. 8FIG. 9FIG. 6FIG. 7FIG. 3FIG. 5FIG. 4 PMID:4957485

  15. A randomized study of the prevention of acute graft-versus-host disease

    SciTech Connect

    Ramsay, N.K.C.; Kersey, J.H.; Robison, L.L.; McGlave, P.B.; Woods, W.G.; Krivit, W.; Kim, T.H.; Goldman, A.I.; Nesbit, M.E., Jr.

    1982-02-01

    Acute graft-versus-host disease is a major problem in allogeneic bone-marrow transplantation. We performed a randomized study to compare the effectiveness of two regimens in the prevention of acute graft-versus-host disease. Thirty-five patients received methotrexate alone, and 32 received methotrexate, antithymocyte globulin, and prednisone. Of the patients who received methotrexate alone, 48 percent had acute graft-versus-host disease, as compared with 21 per cent of those who received methotrexate, antithymocyte globulin, and prednisone (P = 0.01). The age of the recipient was a significant factor in the development of acute graft-versus-host disease: Older patients had a higher incidence of the disease (P = 0.001). We conclude that the combination of methotrexate, antithymocyte globulin, and prednisone significantly decreased the incidence of acute graft-versus-host disease and should be used to prevent this disorder in patients receiving allogeneic marrow transplants.

  16. Prospective study of alcohol consumption and risk of coronary disease in men.

    PubMed

    Rimm, E B; Giovannucci, E L; Willett, W C; Colditz, G A; Ascherio, A; Rosner, B; Stampfer, M J

    1991-08-24

    Although an inverse association between alcohol consumption and risk of coronary artery disease has been consistently found in several types of studies, some have argued that the association is due at least partly to the inclusion in the non-drinking reference group of men who abstain because of pre-existing disease. The association between self-reported alcohol intake and coronary disease was studied prospectively among 51,529 male health professionals. In 1986 the participants completed questionnaires about food and alcohol intake and medical history, heart disease risk factors, and dietary changes in the previous 10 years. Follow-up questionnaires in 1988 sought information about newly diagnosed coronary disease. 350 confirmed cases of coronary disease occurred. After adjustment for coronary risk factors, including dietary intake of cholesterol, fat, and dietary fibre, increasing alcohol intake was inversely related to coronary disease incidence (p for trend less than 0.001). Exclusion of 10,302 current non-drinkers or 16,342 men with disorders potentially related to coronary disease (eg, hypertension, diabetes, and gout) which might have led men to reduce their alcohol intake, did not substantially affect the relative risks. These findings support the hypothesis that the inverse relation between alcohol consumption and risk of coronary disease is causal. PMID:1678444

  17. Genome-wide association studies of late-onset cardiovascular disease

    PubMed Central

    Smith, J. Gustav; Newton-Cheh, Christopher

    2015-01-01

    Human genetics is a powerful tool for discovering causal mediators of human disease and physiology. Cardiovascular diseases with late onset in the lifecourse have historically not been considered genetic diseases, but in recent years the contribution of a heritable factor has been established. More importantly, over the last decade genome-wide association studies (GWASs) have identified many loci associated with late-onset cardiovascular diseases including coronary artery disease, carotid artery disease, ischemic stroke, aortic aneurysm, peripheral vascular disease, atrial fibrillation, valvular disease and correlates of myocardial function. Here we review findings from GWASs considered statistically robust with regard to multiple testing (p<5×10−8) for late-onset cardiovascular diseases and traits. Although for only a handful of the 92 genetic loci described here have the mechanisms underlying disease association been established, new and previously unsuspected pathways have been implicated for several conditions. Examples include a role for NO signaling in myocardial repolarization and sudden cardiac death and a role for the protein sortilin in lipid metabolism and coronary artery disease. Genetic loci with multiple trait associations have also provided novel biological insights. For example, of the 46 genetic loci associated with coronary artery disease, only 16 are also associated with conventional risk factors for cardiovascular disease whereas the remaining two thirds may reflect novel pathways. Much work remains to functionally characterize genetic loci and for clinical utility, but accruing insights into the biological basis of cardiovascular aging in human populations promise to point to novel therapeutic and preventive strategies. PMID:25870159

  18. [Advance in studies on pharmacological effect of salidroside on nervous system diseases].

    PubMed

    Xie, Hui; Zhu, Da-hui

    2012-09-01

    Salidroside is an extract from Rhodiola crenulata as well as one of major active constituents. In studies of recent years, salidroside showed multiple effects in protecting nerves, scavenging free radicals, regulating central nervous system neurotransmitter, increasing the ability to promote nerve repair and modulating of apoptosis-related gene expression. Hence, it is expected to be applied in treating degenerative nerve diseases and brain ischemic diseases. This essay summarizes studies on pharmacological effects of salidroside on nerve system diseases, providing reference for further studies, development and application of R. crenulata. PMID:23236741

  19. Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies

    PubMed Central

    Quansah, Emmanuel; Karikari, Thomas K.

    2015-01-01

    Motor neuron diseases (MNDs) are devastating neurological diseases that are characterised by gradual degeneration and death of motor neurons. Major types of MNDs include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). These diseases are incurable, with limited disease-modifying treatment options. In order to improve MND-based biomedical research, drug development, and clinical care, population-based studies will be important. These studies, especially among less-studied populations, might identify novel factors controlling disease susceptibility and resistance. To evaluate progress in MND research in Africa, we examined the published literature on MNDs in Sub-Saharan Africa to identify disease prevalence, genetic factors, and other risk factors. Our findings indicate that the amount of research evidence on MNDs in Sub-Saharan Africa is scanty; molecular and genetics-based studies are particularly lacking. While only a few genetic studies were identified, these studies strongly suggest that there appear to be population-specific causes of MNDs among Africans. MND genetic underpinnings vary among different African populations and also between African and non-African populations. Further studies, especially molecular, genetic and genomic studies, will be required to advance our understanding of MND biology among African populations. Insights from these studies would help to improve the timeliness and accuracy of clinical diagnosis and treatment. PMID:26347879

  20. Mammograms May Also Help Spot Heart Disease, Study Suggests

    MedlinePlus

    ... Women's Health at Northwell Health in New Hyde Park, N.Y. In the study, about half of ... for Women's Health at Northwell Health, New Hyde Park, N.Y.; April 3, 2016, presentation, American College ...

  1. A clinical study of the relationship between diabetes mellitus and periodontal disease

    PubMed Central

    Rajhans, Neelima S.; Kohad, Ramesh M.; Chaudhari, Viren G.; Mhaske, Nilkanth H.

    2011-01-01

    The relationship between diabetes mellitus and periodontal disease is not clear, even though studied intensively. From the available data, it seemed reasonable to believe that diabetics were more susceptible to periodontal disease than non.diabetics. Aim: The present study was to clinically evaluate the relationship of diabetes mellitus with periodontal disease along with various parameters. Materials and Methods: Fifteen hundred patients with diabetes mellitus were examined. A thorough oral examination was carried out and relevant history was recorded for all the patients. Results: Results indicated that the prevalence of periodontal disease in diabetic patients was 86.8%. Conclusion: It can be concluded that poorer the glycemic control, and longer the duration of diabetes, the greater will be the prevalence and severity of periodontal disease. PMID:22368365

  2. Rodent models of cardiopulmonary disease: their potential applicability in studies of air pollutant susceptibility.

    PubMed Central

    Kodavanti, U P; Costa, D L; Bromberg, P A

    1998-01-01

    The mechanisms by which increased mortality and morbidity occur in individuals with preexistent cardiopulmonary disease following acute episodes of air pollution are unknown. Studies involving air pollution effects on animal models of human cardiopulmonary diseases are both infrequent and difficult to interpret. Such models are, however, extensively used in studies of disease pathogenesis. Primarily they comprise those developed by genetic, pharmacologic, or surgical manipulations of the cardiopulmonary system. This review attempts a comprehensive description of rodent cardiopulmonary disease models in the context of their potential application to susceptibility studies of air pollutants regardless of whether the models have been previously used for such studies. The pulmonary disease models include bronchitis, emphysema, asthma/allergy, chronic obstructive pulmonary disease, interstitial fibrosis, and infection. The models of systemic hypertension and congestive heart failure include: those derived by genetics (spontaneously hypertensive, Dahl S. renin transgenic, and other rodent models); congestive heart failure models derived by surgical manipulations; viral myocarditis; and cardiomyopathy induced by adriamycin. The characteristic pathogenic features critical to understanding the susceptibility to inhaled toxicants are described. It is anticipated that this review will provide a ready reference for the selection of appropriate rodent models of cardiopulmonary diseases and identify not only their pathobiologic similarities and/or differences to humans but also their potential usefulness in susceptibility studies. Images Figure 2 PMID:9539009

  3. Chronic Obstructive Pulmonary Disease is associated with risk of Chronic Kidney Disease: A Nationwide Case-Cohort Study

    PubMed Central

    Chen, Chung-Yu; Liao, Kuang-Ming

    2016-01-01

    Patients with chronic obstructive pulmonary disease (COPD) and chronic kidney disease (CKD) share common risk factors. However, there is limited information about COPD and CKD. This is case-cohort study was carried out using the Taiwanese National Health Insurance Research Database to evaluate the correlation between COPD and CKD. We identified cases aged older than 40 years who had an inpatient hospitalization with a first-time COPD diagnosis between 1998 and 2008. Control were selected from hospitalized patients without COPD or CKD and were matched according to age, gender, and year of admission at a 2:1 ratio. Cox proportional hazards model was used to assess the association of CKD and COPD. The overall incidence of CKD was higher in the COPD group (470.9 per 104 person-years) than in the non-COPD group (287.52 per 104 person-years). The adjusted hazard ratio of case was 1.61 (P < 0.0001) times that of control. COPD was found to be associated with kidney disease from our follow-up. To detect CKD early, early diagnosis of CKD in patients with COPD and prompt initiation of monitoring and treatment are imperative. PMID:27166152

  4. Celiac Disease Genomic, Environmental, Microbiome, and Metabolomic (CDGEMM) Study Design: Approach to the Future of Personalized Prevention of Celiac Disease

    PubMed Central

    Leonard, Maureen M.; Camhi, Stephanie; Huedo-Medina, Tania B.; Fasano, Alessio

    2015-01-01

    In the past it was believed that genetic predisposition and exposure to gluten were necessary and sufficient to develop celiac disease (CD). Recent studies however suggest that loss of gluten tolerance can occur at any time in life as a consequence of other environmental stimuli. Many environmental factors known to influence the composition of the intestinal microbiota are also suggested to play a role in the development of CD. These include birthing delivery mode, infant feeding, and antibiotic use. To date no large-scale longitudinal studies have defined if and how gut microbiota composition and metabolomic profiles may influence the loss of gluten tolerance and subsequent onset of CD in genetically-susceptible individuals. Here we describe a prospective, multicenter, longitudinal study of infants at risk for CD which will employ a blend of basic and applied studies to yield fundamental insights into the role of the gut microbiome as an additional factor that may play a key role in early steps involved in the onset of autoimmune disease. PMID:26569299

  5. Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

    PubMed

    Sakuraba, Hitoshi; Matsuzawa, Fumiko; Aikawa, Sei-ichi; Doi, Hirofumi; Kotani, Masaharu; Nakada, Hiroshi; Fukushige, Tomoko; Kanzaki, Tamotsu

    2004-01-01

    Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency (Schindler/Kanzaki disease) is a clinically and pathologically heterogeneous genetic disease with a wide spectrum including an early onset neuroaxonal dystrophy (Schindler disease) and late onset angiokeratoma corporis diffusum (Kanzaki disease). In alpha-NAGA deficiency, there are discrepancies between the genotype and phenotype, and also between urinary excretion products (sialyl glycoconjugates) and a theoretical accumulated material (Tn-antigen; Gal NAcalpha1-O-Ser/Thr) resulting from a defect in alpha-NAGA. As for the former issue, previously reported genetic, biochemical and pathological data raise the question whether or not E325K mutation found in Schindler disease patients really leads to the severe phenotype of alpha-NAGA deficiency. The latter issue leads to the question of whether alpha-NAGA deficiency is associated with the basic pathogenesis of this disease. To clarify the pathogenesis of this disease, we performed structural and immunocytochemical studies. The structure of human alpha-NAGA deduced on homology modeling is composed of two domains, domain I, including the active site, and domain II. R329W/Q, identified in patients with Kanzaki disease have been deduced to cause drastic changes at the interface between domains I and II. The structural change caused by E325K found in patients with Schindler disease is localized on the N-terminal side of the tenth beta-strand in domain II and is smaller than those caused by R329W/Q. Immunocytochemical analysis revealed that the main lysosomal accumulated material in cultured fibroblasts from patients with Kanzaki disease is Tn-antigen. These data suggest that a prototype of alpha-NAGA deficiency in Kanzaki disease and factors other than the defect of alpha-NAGA may contribute to severe neurological disorders, and Kanzaki disease is thought to be caused by a single enzyme deficiency. PMID:14685826

  6. Performance of Disease Risk Score Matching in Nested Case-Control Studies: A Simulation Study.

    PubMed

    Desai, Rishi J; Glynn, Robert J; Wang, Shirley; Gagne, Joshua J

    2016-05-15

    In a case-control study, matching on a disease risk score (DRS), which includes many confounders, should theoretically result in greater precision than matching on only a few confounders; however, this has not been investigated. We simulated 1,000 hypothetical cohorts with a binary exposure, a time-to-event outcome, and 13 covariates. Each cohort comprised 2 subcohorts of 10,000 patients each: a historical subcohort and a concurrent subcohort. DRS were estimated in the historical subcohorts and applied to the concurrent subcohorts. Nested case-control studies were conducted in the concurrent subcohorts using incidence density sampling with 2 strategies-matching on age and sex, with adjustment for additional confounders, and matching on DRS-followed by conditional logistic regression for 9 outcome-exposure incidence scenarios. In all scenarios, DRS matching yielded lower average standard errors and mean squared errors than did matching on age and sex. In 6 scenarios, DRS matching also resulted in greater empirical power. DRS matching resulted in less relative bias than did matching on age and sex at lower outcome incidences but more relative bias at higher incidences. Post-hoc analysis revealed that the effect of DRS model misspecification might be more pronounced at higher outcome incidences, resulting in higher relative bias. These results suggest that DRS matching might increase the statistical efficiency of case-control studies, particularly when the outcome is rare. PMID:27189330

  7. TRANSMISSION OF ENTERIC DISEASE ASSOCIATED WITH WASTEWATER IRRIGATION: A PROSPECTIVE EPIDEMIOLOGICAL STUDY

    EPA Science Inventory

    We conducted a prospective epidemiological study of possible enteric disease transmission by aerosolized pathogens from sprinkler irrigation of partially treated wastewater in 20 kibbutzim (colllective agricultural settlements) in Isreal between March 1981 and February 1982. Medi...

  8. PRELIMINARY REPORT ON NATIONWIDE STUDY OF DRINKING WATER AND CARDIOVASCULAR DISEASES

    EPA Science Inventory

    This study was designed to further investigate the association(s) of cardiovascular diseases and drinking water constituents. A sample of 4200 adults were randomly selected from 35 geographic areas to represent the civilian noninstitutionalized population of the contiguous United...

  9. Therapeutic Applications of Incretin Mimetics for Metabolic Diseases: Preclinical Studies

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Exenatide (exendin-4) is an incretin mimetic peptide that shares several glucoregulatory actions with the endogenous incretin GLP-1. In addition to its actions on glucose control, exenatide produces effects to reduce food intake and body weight in all species studied. GLP-1 and exenatide have also b...

  10. Mutation analysis in primary immunodeficiency diseases: case studies

    PubMed Central

    Hsu, Amy P.; Fleisher, Thomas A.; Niemela, Julie E.

    2009-01-01

    Purpose of review The application of mutation analysis is becoming an integral part of the complete evaluation of patients with primary immunodeficiencies, and as such, clinicians caring for these patients must develop a better understanding of the utility and challenges of this important laboratory technology. Recent findings Genomic DNA sequencing is currently the standard approach used to characterize a possible gene mutation causing a specific primary immunodeficiency. There are clinical situations in which this approach is revealing of a genetic defect and other circumstances in which this generates a false-positive or false-negative result. One case study is presented that reviews a straightforward analysis that clarifies the genetic basis of a primary immunodeficiency, and four cases are presented that required additional studies to clarify the underlying basis of the immunodeficiency. In the latter circumstances, the rationale for additional studies is outlined and the outcome of these is presented. Summary The identification of a gene mutation as the underlying basis of a primary immunodeficiency begins with the evaluation of the clinical presentation focusing on the infection history so as to develop a differential diagnosis including potential genetic causes. The next step is to obtain specific laboratory studies, including immunologic function evaluation, and, based on these findings, to proceed with DNA sequencing of one or several selected candidate genes. Genomic DNA sequencing has certain limitations, and alternative follow-up approaches may be necessary to establish the molecular basis of the primary immunodeficiency in a given patient. PMID:19841577

  11. SHRINE: Enabling Nationally Scalable Multi-Site Disease Studies

    PubMed Central

    McMurry, Andrew J.; Murphy, Shawn N.; MacFadden, Douglas; Weber, Griffin; Simons, William W.; Orechia, John; Bickel, Jonathan; Wattanasin, Nich; Gilbert, Clint; Trevvett, Philip; Churchill, Susanne; Kohane, Isaac S.

    2013-01-01

    Results of medical research studies are often contradictory or cannot be reproduced. One reason is that there may not be enough patient subjects available for observation for a long enough time period. Another reason is that patient populations may vary considerably with respect to geographic and demographic boundaries thus limiting how broadly the results apply. Even when similar patient populations are pooled together from multiple locations, differences in medical treatment and record systems can limit which outcome measures can be commonly analyzed. In total, these differences in medical research settings can lead to differing conclusions or can even prevent some studies from starting. We thus sought to create a patient research system that could aggregate as many patient observations as possible from a large number of hospitals in a uniform way. We call this system the ‘Shared Health Research Information Network’, with the following properties: (1) reuse electronic health data from everyday clinical care for research purposes, (2) respect patient privacy and hospital autonomy, (3) aggregate patient populations across many hospitals to achieve statistically significant sample sizes that can be validated independently of a single research setting, (4) harmonize the observation facts recorded at each institution such that queries can be made across many hospitals in parallel, (5) scale to regional and national collaborations. The purpose of this report is to provide open source software for multi-site clinical studies and to report on early uses of this application. At this time SHRINE implementations have been used for multi-site studies of autism co-morbidity, juvenile idiopathic arthritis, peripartum cardiomyopathy, colorectal cancer, diabetes, and others. The wide range of study objectives and growing adoption suggest that SHRINE may be applicable beyond the research uses and participating hospitals named in this report. PMID:23533569

  12. Celiac disease in subjects with type 1 diabetes mellitus: a prevalence study in western Sicily (Italy).

    PubMed

    Greco, Domenico; Pisciotta, Maria; Gambina, Francesco; Maggio, Filippo

    2013-02-01

    The association between celiac disease and type 1 diabetes mellitus is well known. Up to now, celiac disease prevalence in children and adults with type 1 diabetes in Sicily has not been reported. The aim of this study was to assess the prevalence of celiac disease in patients with type 1 diabetes mellitus who come from a defined geographical area in western Sicily and to investigate the clinical features of these subjects. The records of 492 consecutive patients with type 1 diabetes mellitus referred in a period of 5 years were analyzed. During the period of the survey, out of 492 patients with type 1 diabetes, 22 (4.5 %) had a previous diagnosis of celiac disease. There were 14 females and 8 males; these patients showed a mean age of 13 years at diabetes onset. Diagnosis of celiac disease was often simultaneous or subsequent to that of diabetes. Autoimmune thyroiditis was coexisting in 8 patients (36 %). Our data confirm, in a Sicilian population, the not unusual association between celiac disease and type 1 diabetes, although prevalence rate is lower than in others Italian studies. Autoimmune thyroiditis is present with high prevalence in these patients. Celiac disease diagnosis often followed onset of type 1 diabetes, particularly in female subjects with a young age at diabetes onset; therefore, in these subjects, an active search for the presence of celiac disease is warranted for many years after appearance of diabetes. PMID:22707396

  13. A Refined Study of FCRL Genes from a Genome-Wide Association Study for Graves’ Disease

    PubMed Central

    Song, Zhi-Yi; Yang, Shao-Ying; Xue, Li-Qiong; Pan, Chun-Ming; Gu, Zhao-Hui; Liu, Bing-Li; Wang, Hai-Ning; Liang, Liming; Liang, Jun; Zhang, Xiao-Mei; Yuan, Guo-Yue; Li, Chang-Gui; Chen, Ming-Dao; Chen, Jia-Lun; Gao, Guan-Qi; Song, Huai-Dong

    2013-01-01

    To pinpoint the exact location of the etiological variant/s present at 1q21.1 harboring FCRL1-5 and CD5L genes, we carried out a refined association study in the entire FCRL region in 1,536 patients with Graves’ disease (GD) and 1,516 sex-matched controls by imputation analysis, logistic regression, and cis-eQTL analysis. Among 516 SNPs with P<0.05 in the initial GWAS scan, the strongest signals associated with GD and correlated to FCRL3 expression were located at a cluster of SNPs including rs7528684 and rs3761959. And the allele-specific effects for rs3761959 and rs7528684 on FCRL3 expression level revealed that the risk alleles A of rs3761959 and C of rs7528684 were correlated with the elevated expression level of FCRL3 whether in PBMCs or its subsets, especially in CD19+ B cells and CD8+ T subsets. Next, the combined analysis with 5,300 GD cases and 4,916 control individuals confirmed FCRL3 was a susceptibility gene of GD in Chinese Han populations, and rs3761959 and rs7528684 met the genome-wide association significance level (Pcombined = 2.27×10−12 and 7.11×10−13, respectively). Moreover, the haplotypes with the risk allele A of rs3761959 and risk allele C of rs7528684 were associated with GD risk. Finally, our epigenetic analysis suggested the disease-associated C allele of rs7528684 increased affinity for NF-KB transcription factor. Above data indicated that FCRL3 gene and its proxy SNP rs7528684 may be involved in the pathogenesis of GD by excessive inhibiting B cell receptor signaling and the impairment of suppressing function of Tregs. PMID:23505439

  14. Knowledge and experiences of Chagas disease in Bolivian women living in Spain: a qualitative study

    PubMed Central

    Blasco-Hernández, Teresa; Miguel, Lucía García-San; Navaza, Bárbara; Navarro, Miriam; Benito, Agustín

    2016-01-01

    Background In Europe, Spain has the highest number of people with Chagas disease (CD). Bolivian migrants account for 81% of the reported cases. One of the priorities in controlling the disease is prevention of mother-to-child transmission. Despite under-diagnosis in Spain being estimated at 90%, there are currently few studies that explore the social and cultural dimensions of this disease. Objective The aim of this study was to explore the knowledge and experiences of Bolivian women with CD, in order to generate a useful understanding for the design and implementation of public health initiatives. Design Qualitative study based on semi-structured interviews, triangular groups, and field notes. Participants Fourteen Bolivian women with CD living in Madrid. Results The participants were aware that the disease was transmitted through the vector, that it could be asymptomatic, and that it could also be associated with sudden death by heart failure. They opined that the treatment as such could not cure the disease but only slow it down. There was a sense of indifference along with a lack of understanding of the risk of contracting the disease. Participants who presented with symptoms, or those with relatives suffering from the disease, were concerned about fatalities, cardiac problems, and possible vertical transmission. There was also a fear of being rejected by others. The disease was described as something that affected a large number of people but only showed up in a few cases and that too after many years. There was a widespread assumption that it was better not to know because doing so, allows the disease to take hold. Conclusions Disease risk perception was very low in Bolivian women living in Madrid. This factor, together with the fear of being screened, may be contributing to the current rate of under-diagnosis. PMID:26976265

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

    PubMed Central

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

    2015-01-01

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

  16. Wolf-Hirschhorn syndrome: a case study and disease overview.

    PubMed

    Bailey, Regina

    2014-10-01

    Wolf-Hirschhorn syndrome is caused by a deletion of a segment on the short arm (p) of chromosome 4. The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual disabilities, and seizures. To provide comprehensive and appropriate nursing and medical care to infants with Wolf-Hirschhorn syndrome, it is imperative to know and understand the disorder. A case study of a 36 weeks' gestational age white-Hispanic male infant with Wolf-Hirschhorn syndrome is presented with the purpose of increasing clinical knowledge and the implications for the clinical nurse and neonatal nurse practitioner. PMID:25137600

  17. Workplace exposure to passive smoking and risk of cardiovascular disease: summary of epidemiologic studies.

    PubMed Central

    Kawachi, I; Colditz, G A

    1999-01-01

    We reviewed the published epidemiologic studies addressing the relationship between workplace exposure to environmental tobacco smoke (ETS) and cardiovascular disease risk in three case-control studies and three cohort studies. Although the point estimates of risk for cardiovascular disease exceeded 1.0 in five of six studies, none of the relative risks was statistically significant because of the small number of cardiovascular end points occurring in individual studies. In common with most epidemiologic investigations of the health risks of ETS, none of the workplace studies included independent biochemical validation of ETS exposure. In contrast to the evidence on increased cardiovascular disease risk from exposure to spousal ETS, studies of ETS exposure in the workplace are still sparse and inconclusive. Conversely, there is no biologically plausible reason to believe that the hazards of ETS exposure that have been demonstrated in the home should not also apply to the workplace. PMID:10592141

  18. Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

    PubMed

    Sanders, Angela; Hemmelgarn, Harmony; Melrose, Heather L; Hein, Leanne; Fuller, Maria; Clarke, Lorne A

    2013-08-01

    Gaucher disease is an autosomal recessively inherited storage disorder caused by deficiency of the lysosomal hydrolase, acid β-glucosidase. The disease manifestations seen in Gaucher patients are highly heterogeneous as is the responsiveness to therapy. The elucidation of the precise factors responsible for this heterogeneity has been challenging as the development of clinically relevant animal models of Gaucher disease has been problematic. Although numerous murine models for Gaucher disease have been described each has limitations in their specific utility. We describe here, transgenic murine models of Gaucher disease that will be particularly useful for the study of pharmacological chaperones. We have produced stable transgenic mouse strains that individually express wild type, N370S and L444P containing human acid β-glucosidase and show that each of these transgenic lines rescues the lethal phenotype characteristic of acid β-glucosidase null mice. Both the N370S and L444P transgenic models show early and progressive elevations of tissue sphingolipids with L444P mice developing progressive splenic Gaucher cell infiltration. We demonstrate the potential utility of these new transgenic models for the study of Gaucher disease pathogenesis. In addition, since these mice produce only human enzyme, they are particularly relevant for the study of pharmacological chaperones that are specifically targeted to human acid β-glucosidase and the common mutations underlying Gaucher disease. PMID:23642305

  19. A Study on Borna Disease Virus Infection in Domestic Cats in Japan

    PubMed Central

    SOMEYA, Azusa; FUKUSHIMA, Ryoko; YOSHIDA, Michiko; TANAHASHI, Yasuyuki; PRAPEUK, Tangmunkhong; IIZUKA, Reiko; HIRAMI, Hiroshi; MATSUDA, Atsushi; TAKAHASHI, Shunichi; KURITA, Goro; KIMURA, Takashi; SEO, Misuzu; FUNABA, Masayuki; NISHINO, Yoshii

    2014-01-01

    ABSTRACT Borna disease virus (BDV) infection causes neurological disease in cats. Here, we report BDV infection in 199 hospitalized domestic cats in the Tokyo area. BDV infection was evaluated by detection of plasma antibodies against BDV-p24 or -p40. BDV-specific antibodies were detected in 54 cats (27.1%). Interestingly, the percentage of seropositive cats was not significantly different among the three clinical groups, i.e., healthy (29.8%), neurologically asymptomatic disease (22.2%) and neurological disease (33.3%). The specific antibodies were present even in cats aged below one year. The seropositive ratio was constant, irrespective of age and sampling season. The present study suggests that additional factors are required for onset of Borna disease in naturally infected cats and that BDV is transmitted through vertical routes in cats. PMID:24805904

  20. The contribution of twin studies to the understanding of the aetiology of asthma and atopic diseases

    PubMed Central

    Thomsen, Simon F.

    2015-01-01

    The prevalence of asthma and other atopic diseases has increased markedly during the past decades and the reasons for this are not fully understood. Asthma is still increasing in many parts of the world, notably in developing countries, and this emphasizes the importance of continuing research aimed at studying the aetiological factors of the disease and the causes of its increase in prevalence. Twin studies enable investigations into the genetic and environmental causes of individual variation in multifactorial diseases such as asthma. Thorough insight into these causes is important as this will ultimately guide the development of preventive strategies and targeted therapies. This review explores the contribution of twin studies to the understanding of the aetiology of asthma and atopic diseases. PMID:26672957

  1. Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings.

    PubMed

    Prins, Doety; Hanekamp, Sandra; Cornelissen, Frans W

    2016-03-01

    Many eye diseases reduce visual acuity or are associated with visual field defects. Because of the well-defined retinotopic organization of the connections of the visual pathways, this may affect specific parts of the visual pathways and cortex, as a result of either deprivation or transsynaptic degeneration. For this reason, over the past several years, numerous structural magnetic resonance imaging (MRI) studies have examined the association of eye diseases with pathway and brain changes. Here, we review structural MRI studies performed in human patients with the eye diseases albinism, amblyopia, hereditary retinal dystrophies, age-related macular degeneration (AMD) and glaucoma. We focus on two main questions. First, what have these studies revealed? Second, what is the potential clinical relevance of their findings? We find that all the aforementioned eye diseases are indeed associated with structural changes in the visual pathways and brain. As such changes have been described in very different eye diseases, in our view the most parsimonious explanation is that these are caused by the loss of visual input and the subsequent deprivation of the visual pathways and brain regions, rather than by transsynaptic degeneration. Moreover, and of clinical relevance, for some of the diseases - in particular glaucoma and AMD - present results are compatible with the view that the eye disease is part of a more general neurological or neurodegenerative disorder that also affects the brain. Finally, establishing structural changes of the visual pathways has been relevant in the context of new therapeutic strategies to restore retinal function: it implies that restoring retinal function may not suffice to also effectively restore vision. Future structural MRI studies can contribute to (i) further establish relationships between ocular and neurological neurodegenerative disorders, (ii) investigate whether brain degeneration in eye diseases is reversible, (iii) evaluate the use

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

    PubMed Central

    Vos, T.; Mathers, C. D.

    2000-01-01

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

  3. Radiation-induced renal disease. A clinicopathologic study.

    PubMed

    Keane, W F; Crosson, J T; Staley, N A; Anderson, W R; Shapiro, F L

    1976-01-01

    Radiation injury to the renal parenchyma is an unusual cause of renal insufficiency. Light, immunofluorescence and electron microscopic studies were performed on the renal tissue from two patients in whom renal insufficiency developed within a year after they received abdominal irradiation. The glomerular lesion in both patients was similar. Mild endothelial cell swelling and basement membrane splitting were noted consistently on light microscopy. The electron microscopic examination revealed marked subendothelial expansion with electron-lucent material associated with deposition of basement membrane-like material adjacent to the endothelial cells. In some capillary loops, the endothelial cell lining appeared to be completely lost. The pathogenesis of radiation-induced renal injury is still uncertain. It is speculated that local activation of the coagulation system with consequent thrombosis of the renal microvasculature may be extremely important. PMID:1251842

  4. Clinical study of bladder diseases using optical coherence tomography

    NASA Astrophysics Data System (ADS)

    Zagainova, Elena; Gladkova, Natalia D.; Strelzova, O.; Sumin, A.; Gelikonov, Grigory V.; Feldchtein, Felix I.; Iksanov, Rashid R.

    2000-11-01

    Optical Coherence Tomography (OCT), a new optical bioimaging technique was used to evaluate the state of mucosa in the urinary bladder. The state of mucosa of the bladder was evaluated in patients with prostatic adenoma (11 male patients) during the course of prostatectomy operation via a resection cytoscope. An OCT probe was inserted into the biopsy channel of a cystoscope. The sites to be imaged by OCT were determined visually and, after OCT study, underwent excisional biopsy and subsequent histological examination. Children (9 girls) were examined during diagnostic cystoscopy. Our analysis of diagnostic capabilities of OCT in urology relies on the comparison of OCT information on normal and morphologically altered tissues. OCT is able to provide objective data concerning the structure of mucosa of the bladder due to the difference in optical properties of different layers in tissue. The epithelium and the layers of connective tissue, both in norm and pathology, are clearly visualized in the tomograms. Our OCT study of healthy mucosa of the urinary bladder has demonstrated that the epithelium appears in the tomograms as an upper highly backscattering layer. An underlying optically less transparent layer, much greater in size than the previous one, corresponds to the connective tissue of the mucosa. Inside this layer, elongated poorly backscattering formations with clear contours are seen; they do not alter the longitudinal structure of the submucosal layer. These formations are blood vessels. Optical patterns characteristic of chronic inflammation are obtained. They correspond, as confirmed histologically, to liquid accumulation, cellular infiltration of mucosal layers, hypervascularization, and fibrosis. OCT information on proliferative processes, such as papillomatosis of the urinary bladder and squamous cell carcinoma, is analyzed. It is shown that OCT can reliably reveal edema of the mucous membrane of the bladder and identify the character of appearing

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

    PubMed Central

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

    2015-01-01

    Neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons. Incurable neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson's disease (PD) show dramatic rising trends particularly in the advanced age groups. However, the underlying mechanisms are not yet fully elucidated, and to date there are no biomarkers for early detection or effective treatments for the underlying causes of these diseases. Furthermore, due to species variation and differences between animal models (e.g., mouse transgenic and knockout models) of neurodegenerative diseases, substantial debate focuses on whether animal and cell culture disease models can correctly model the condition in human patients. In 2006, Yamanaka of Kyoto University first demonstrated a novel approach for the preparation of induced pluripotent stem cells (iPSCs), which displayed similar pluripotency potential to embryonic stem cells (ESCs). Currently, iPSCs studies are permeating many sectors of disease research. Patient sample-derived iPSCs can be used to construct patient-specific disease models to elucidate the pathogenic mechanisms of disease development and to test new therapeutic strategies. Accordingly, the present review will focus on recent progress in iPSC research in the modeling of neurodegenerative disorders and in the development of novel therapeutic options. PMID:26240571

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

    PubMed

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

    2015-01-01

    Neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons. Incurable neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson's disease (PD) show dramatic rising trends particularly in the advanced age groups. However, the underlying mechanisms are not yet fully elucidated, and to date there are no biomarkers for early detection or effective treatments for the underlying causes of these diseases. Furthermore, due to species variation and differences between animal models (e.g., mouse transgenic and knockout models) of neurodegenerative diseases, substantial debate focuses on whether animal and cell culture disease models can correctly model the condition in human patients. In 2006, Yamanaka of Kyoto University first demonstrated a novel approach for the preparation of induced pluripotent stem cells (iPSCs), which displayed similar pluripotency potential to embryonic stem cells (ESCs). Currently, iPSCs studies are permeating many sectors of disease research. Patient sample-derived iPSCs can be used to construct patient-specific disease models to elucidate the pathogenic mechanisms of disease development and to test new therapeutic strategies. Accordingly, the present review will focus on recent progress in iPSC research in the modeling of neurodegenerative disorders and in the development of novel therapeutic options. PMID:26240571

  7. Mapping studies of Hirschsprung disease on chromosome 13q22

    SciTech Connect

    Puffenberger, E.G.; Washington, S.S.; Cass, D.

    1994-09-01

    We have identified a large, inbred, Mennonite kindred segregating HSCR. An association mapping study was initiated to identify the gene(s) involved in the development of HSCR. Presuming segregation of a recessive locus, we searched the genome at low resolution with three multi-case families for chromosomal regions demonstrating identity-by-descent (IBD). Regions demonstrating IBD in all three mapping panel families were analyzed at high resolution using 31 additional nuclear families. This method identified a major susceptibility locus on chromosome 13q22. Four microsatellite markers, viz. D13S162, D13S160, AFM240zg9, and D13S170, showed significant results (p<0.001) when the frequency of alleles at each locus was compared between transmitted (T) and untransmitted (U) parental alleles. An additional marker, D13S317, has since been genotyped and found to demonstrate significant linkage disequilibrium as well. At locus D13S160, the 235 bp allele shows the strongest association. To estimate the penetrance of the mutant gene on 13q22, we genotyped all 58 offspring in 14 segregating (for D13S160) nuclear families. This analysis demonstrated that 36% (8/22) of 235 bp homozygotes and 27% (7/26) of 235 bp heterozygotes we affected. Overall, the calculated penetrance is 31% which accords well with the 33% value estimated by Badner et al. (1990) for colonic HSCR. In addition, two patients with HSCR and interstitial deletions of chromosome 13 have been analyzed with microsatellite markers. The common overlap region includes l3q22 and is bounded distally by D13S160. This region is thought to be syntenic with mouse chromosome 14 where the piebald locus maps. While the piebald locus is recessive and the 13q22 deletion patients argue for dominant inheritance, the mapping data from the Mennonite kindred favors an intermediate model where homozygotes are at greatest risk, but heterozygotes have a measurable risk for HSCR development.

  8. Respiratory diseases and the impact of cough in Taiwan: Results from the APBORD observational study.

    PubMed

    Lin, Horng-Chyuan; Cho, Sang-Heon; Ghoshal, Aloke Gopal; Muttalif, Abdul Razak Bin Abdul; Thanaviratananich, Sanguansak; Bagga, Shalini; Faruqi, Rab; Sajjan, Shiva; Cahill, Camilla L; Hamrosi, Kim K; Wang, De Yun

    2016-07-01

    Chronic respiratory diseases such as asthma, allergic rhinitis (AR), chronic obstructive pulmonary disease (COPD), and rhinosinusitis are becoming increasingly prevalent in the Asia-Pacific region. The Asia-Pacific Burden of Respiratory Diseases (APBORD) study was a cross-sectional, observational study which examined the disease and economic burden of AR, asthma, COPD, and rhinosinusitis across Asia-Pacific using 1 standard protocol. Here we report symptoms, healthcare resource use (HCRU), work impairment, and associated cost in Taiwan.Consecutive participants aged ≥ 18 years presenting to a physician with symptoms meeting the diagnostic criteria for a primary diagnosis of asthma, AR, COPD, or rhinosinusitis were enrolled. Participants and their treating physician completed surveys detailing respiratory symptoms, HCRU, work productivity, and activity impairment. Costs including direct medical costs and indirect costs associated with lost work productivity were calculated.The study enrolled 1001 patients. AR was the most frequent primary diagnosis (31.2%). A quarter of patients presented with a combination of respiratory diseases, with AR and asthma being the most frequent combination (14.1%). Cough or coughing up phlegm was the primary reason for the medical visit for patients with asthma and COPD, whereas nasal symptoms (watery runny nose, blocked nose, and congestion) were the primary reasons for AR and rhinosinusitis. Specialists were the most frequently used healthcare resource by patients with AR (26.1%), asthma (26.4%), COPD (26.6%), and rhinosinusitis (47.3%). The mean annual cost per patient with a respiratory disease was US$4511 (SD 5395). The cost was almost double for employed patients (US$8047, SD 6175), with the majority attributable to lost productivity.Respiratory diseases have a significant impact on disease burden in Taiwan. Treatment strategies that prevent lost work productivity could greatly reduce the economic burden of these diseases. PMID

  9. Atopic Diseases and Systemic Lupus Erythematosus: An Epidemiological Study of the Risks and Correlations

    PubMed Central

    Hsiao, Yu-Ping; Tsai, Jeng-Dau; Muo, Chih-Hsin; Tsai, Chung-Hung; Sung, Fung-Chang; Liao, Ya-Tang; Chang, Yen-Jung; Yang, Jen-Hung

    2014-01-01

    Both atopic diseases and systemic lupus erythematosus (SLE) are immune disorders that may lead to physical complications or multi-system comorbidities. This population-based case-control study was designed to evaluate the risk of SLE associated with atopic diseases. Using a national insurance claims dataset in Taiwan, we identified 1673 patients newly diagnosed with SLE and 6692 randomly selected controls frequency matched for gender, age and index date. The odds ratios (OR) for SLE were calculated for associations with allergic rhinitis, allergic conjunctivitis, atopic dermatitis and asthma. The SLE patients were predominantly female (82.5%) with a mean age of 40.1 (SD = 18.2). The patients with SLE had a higher rate of atopic dermatitis (6.81% vs. 3.06%), and asthma (10.6% vs. 7.64%) was approximately 2 times more common in the patients with lupus than in those without. The patients with atopic disease (atopic dermatitis, allergic rhinitis, allergic conjunctivitis and asthma) were at a significant risk for SLE. The overall risk for SLE increased as the number of atopic diseases increased from 1.46 to 2.29, compared with—individuals without the diseases (p < 0.0001). In conclusion, this population-based case-control study demonstrates a significant relationship between atopic diseases and the risk of SLE, especially for females. Atopic dermatitis plays a stronger role than other types of atopic disease in association with SLE. PMID:25111878

  10. Organoids as a model system for studying human lung development and disease.

    PubMed

    Nadkarni, Rohan R; Abed, Soumeya; Draper, Jonathan S

    2016-05-01

    The lung is a complex organ comprising multiple cell types that perform a variety of vital processes, including immune defense and gas exchange. Diseases of the lung, such as chronic obstructive pulmonary disease, asthma and lung cancer, together represent one of the largest causes of patient suffering and mortality. Logistical barriers that hamper access to embryonic, normal adult or diseased lung tissue currently hinder the study of lung disease. In vitro lung modeling represents an attractive and accessible avenue for investigating lung development, function and disease pathology, but accurately modeling the lung in vitro requires a system that recapitulates the structural features of the native lung. Organoids are stem cell-derived three-dimensional structures that are supported by an extracellular matrix and contain multiple cell types whose spatial arrangement and interactions mimic those of the native organ. Recently, organoids representative of the respiratory system have been generated from adult lung stem cells and human pluripotent stem cells. Ongoing studies are showing that organoids may be used to model human lung development, and can serve as a platform for interrogating the function of lung-related genes and signalling pathways. In a therapeutic context, organoids may be used for modeling lung diseases, and as a platform for screening for drugs that alleviate respiratory disease. Here, we summarize the organoid-forming capacity of respiratory cells, current lung organoid technologies and their potential use in future therapeutic applications. PMID:26721435

  11. Isolation and excision of murine aorta; a versatile technique in the study of cardiovascular disease.

    PubMed

    Robbins, Nathan; Thompson, Allie; Mann, Adrien; Blomkalns, Andra L

    2014-01-01

    Cardiovascular disease is a broad term describing disease of the heart and/or blood vessels. The main blood vessel supplying the body with oxygenated blood is the aorta. The aorta may become affected in diseases such as atherosclerosis and aneurysm. Researchers investigating these diseases would benefit from direct observation of the aorta to characterize disease progression as well as to evaluate efficacy of potential therapeutics. The goal of this protocol is to describe proper isolation and excision of the aorta to aid investigators researching cardiovascular disease. Isolation and excision of the aorta allows investigators to look at gross morphometric changes as wells as allowing them to preserve and stain the tissue to look at histologic changes if desired. The aorta may be used for molecular studies to evaluate protein and gene expression to discover targets of interest and mechanisms of action. This technique is superior to imaging modalities as they have inherent limitations in technology and cost. Additionally, primary isolated cells from a freshly isolated and excised aorta can allowing researchers to perform further in situ and in vitro assays. The isolation and excision of the aorta has the limitation of having to sacrifice the animal however, in this case the benefits outweigh the harm as it is the most versatile technique in the study of aortic disease. PMID:25490214

  12. [Genome-Wide Association Studies for life-style related diseases].

    PubMed

    Maeda, Shiro

    2016-03-01

    After the completion of human genome project, development of single nucleotide polymorphism (SNP) typing technology and collation of information regarding linkage disequilibrium in the human genome have facilitated genome-wide association studies (GWAS) for investigating genes associated with disease susceptibility across the entire human genome. In case of type 2 diabetes, approximately 100 genetic loci have been identified and confirmed as susceptibility to the disease through GWAS in different ethnic groups, including Japanese, European, East Asian and South Asian populations. However, integration of these information accounts for less than 20% of the disease heritability, and thus most of the heritability of type 2 diabetes remain to be identified. Since the rationale of GWAS is based on the hypothesis that common variants contribute to the susceptibility to common diseases, common disease-common variant hypothesis, GWAS have selectively identified common susceptibility variants (allele frequency>=0.05) with lower effect size (odds ratio<1.5), that is a limitation of the GWAS approach. Although GWAS have brought a significant breakthrough in the field of genetic study for life-style related diseases, new approaches other than GWAS, such as whole genome sequencing to identify rare variants with greater effect size or integration of genetic and environmental information, will be required to elucidate a heritability of life-style related diseases completely. PMID:26923980

  13. Strongly reduced volumes of putamen and thalamus in Alzheimer's disease: an MRI study.

    PubMed

    de Jong, L W; van der Hiele, K; Veer, I M; Houwing, J J; Westendorp, R G J; Bollen, E L E M; de Bruin, P W; Middelkoop, H A M; van Buchem, M A; van der Grond, J

    2008-12-01

    Atrophy is regarded a sensitive marker of neurodegenerative pathology. In addition to confirming the well-known presence of decreased global grey matter and hippocampal volumes in Alzheimer's disease, this study investigated whether deep grey matter structure also suffer degeneration in Alzheimer's disease, and whether such degeneration is associated with cognitive deterioration. In this cross-sectional correlation study, two groups were compared on volumes of seven subcortical regions: 70 memory complainers (MCs) and 69 subjects diagnosed with probable Alzheimer's disease. Using 3T 3D T1 MR images, volumes of nucleus accumbens, amygdala, caudate nucleus, hippocampus, pallidum, putamen and thalamus were automatically calculated by the FMRIB's Integrated Registration and Segmentation Tool (FIRST)--algorithm FMRIB's Software Library (FSL). Subsequently, the volumes of the different regions were correlated with cognitive test results. In addition to finding the expected association between hippocampal atrophy and cognitive decline in Alzheimer's disease, volumes of putamen and thalamus were significantly reduced in patients diagnosed with probable Alzheimer's disease. We also found that the decrease in volume correlated linearly with impaired global cognitive performance. These findings strongly suggest that, beside neo-cortical atrophy, deep grey matter structures in Alzheimer's disease suffer atrophy as well and that degenerative processes in the putamen and thalamus, like the hippocampus, may contribute to cognitive decline in Alzheimer's disease. PMID:19022861

  14. Strongly reduced volumes of putamen and thalamus in Alzheimer's disease: an MRI study

    PubMed Central

    van der Hiele, K.; Veer, I. M.; Houwing, J. J.; Westendorp, R. G. J.; Bollen, E. L. E. M.; de Bruin, P. W.; Middelkoop, H. A. M.; van Buchem, M. A.; van der Grond, J.

    2008-01-01

    Atrophy is regarded a sensitive marker of neurodegenerative pathology. In addition to confirming the well-known presence of decreased global grey matter and hippocampal volumes in Alzheimer's disease, this study investigated whether deep grey matter structure also suffer degeneration in Alzheimer's disease, and whether such degeneration is associated with cognitive deterioration. In this cross-sectional correlation study, two groups were compared on volumes of seven subcortical regions: 70 memory complainers (MCs) and 69 subjects diagnosed with probable Alzheimer's disease. Using 3T 3D T1 MR images, volumes of nucleus accumbens, amygdala, caudate nucleus, hippocampus, pallidum, putamen and thalamus were automatically calculated by the FMRIB's Integrated Registration and Segmentation Tool (FIRST)—algorithm FMRIB's Software Library (FSL). Subsequently, the volumes of the different regions were correlated with cognitive test results. In addition to finding the expected association between hippocampal atrophy and cognitive decline in Alzheimer's disease, volumes of putamen and thalamus were significantly reduced in patients diagnosed with probable Alzheimer's disease. We also found that the decrease in volume correlated linearly with impaired global cognitive performance. These findings strongly suggest that, beside neo-cortical atrophy, deep grey matter structures in Alzheimer's disease suffer atrophy as well and that degenerative processes in the putamen and thalamus, like the hippocampus, may contribute to cognitive decline in Alzheimer's disease. PMID:19022861

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

    PubMed

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

    2015-11-01

    The importance of aspergillosis in humans and various animal species has increased over the last decades. Aspergillus species are found worldwide in humans and in almost all domestic animals and birds as well as in many wild species, causing a wide range of diseases from localized infections to fatal disseminated diseases, as well as allergic responses to inhaled conidia. Some prevalent forms of animal aspergillosis are invasive fatal infections in sea fan corals, stonebrood mummification in honey bees, pulmonary and air sac infection in birds, mycotic abortion and mammary gland infections in cattle, guttural pouch mycoses in horses, sinonasal infections in dogs and cats, and invasive pulmonary and cerebral infections in marine mammals and nonhuman primates. This article represents a comprehensive overview of the most common infections reported by Aspergillus species and the corresponding diseases in various types of animals. PMID:26316211

  16. Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease

    PubMed Central

    Wood, Kayleigh L; Miller, Michael H; Dillon, John F

    2015-01-01

    Non-alcoholic fatty liver disease has an increasing prevalence in Western countries, affecting up to 20% of the population. Objective The aim of this project was to systematically review and summarise the genetic association studies that investigate possible genetic influences that confer susceptibility to non-alcoholic fatty liver disease and non-alcoholic steatohepatitis. Design The MEDLINE and SCOPUS databases were searched to identify candidate gene studies on histologically diagnosed non-alcoholic fatty liver disease. Results A total of 85 articles have been summarised and categorised on the basis of the general pathway each candidate gene is involved in, including lipid metabolism, lipoprotein processing, cholesterol synthesis, glucose homoeostasis, inflammatory response, protection against oxidative stress and whole body metabolism. Conclusions The main findings demonstrate a small but consistent association of PNPLA3 with non-alcoholic fatty liver disease and non-alcoholic steatohepatitis. Genetic association studies have investigated general disease susceptibility, histological characteristics, severity and progression. However, further study is required to better elucidate the genetic factors influencing fatty liver disease. PMID:26462272

  17. Studies of generalized elemental imbalances in neurological disease patients using INAA (instrumental neutron activation analysis)

    SciTech Connect

    Ehmann, W.D.; Vance, D.E.; Khare, S.S.; Kasarskis, E.J.; Markesbery, W.R.

    1988-01-01

    Evidence has been presented in the literature to implicate trace elements in the etiology of several age-related neurological diseases. Most of these studies are based on brain analyses. Using instrumental neutron activation analysis (INAA), we have observed trace element imbalances in brains of patients with Alzheimer's disease, amyotrophic lateral sclerosis (ALS), and Picks's disease. The most prevalent elemental imbalances found in the brain were for bromine, mercury, and the alkali metals. In this study the authors report INAA studies of trace elements in nonneural tissues from Alzheimer's disease and ALS patients. Samples from household relatives were collected for use as controls wherever possible. Hair samples were washed according to the International Atomic Energy Agency recommended procedure. Fingernail samples were scraped with a quartz knife prior to washing by the same procedure. For ALS patients, blood samples were also collected. These data indicate that elemental imbalances in Alzheimer's disease and ALS are not restricted to the brain. Many elements perturbed in the brain are also altered in the several nonneural tissues examined to date. The imbalances in different tissues, however, are not always in the same direction. The changes observed may represent causes, effects, or simply epiphenomena. Longitudinal studies of nonneural tissues and blood, as well as tissue microprobe analyses at the cellular and subcellular level, will be required in order to better assess the role of trace elements in the etiology of these diseases.

  18. Computer-Based Visualization System for the Study of Deep Brain Structures Involved in Parkinson's Disease.

    PubMed

    Juanes, Juan A; Ruisoto, Pablo; Obeso, José A; Prats, Alberto; San-Molina, Joan

    2015-11-01

    Parkinson's Disease is characterized by alterations in deep brain structures and pathways involved in movement control. However, the understanding of neuroanatomy and spatial relationships of deep brain structures remains a challenge for medical students. Recent developments in information technology may help provide new instructional material that addresses this problem. This paper aims to develop an interactive and digital tool to enhance the study of the anatomical and functional neurological basis involved in Parkinson's Disease. This tool allows the organization and exploration of complex neuroanatomical contents related with Parkinson's Disease in an attractive and interactive way. Educational implications of this tool are analyzed. PMID:26370536

  19. Genome-Wide Association Studies: Progress in Identifying Genetic Biomarkers in Common, Complex Diseases

    PubMed Central

    Kingsmore, Stephen F.; Lindquist, Ingrid E.; Mudge, Joann; Beavis, William D.

    2007-01-01

    Novel, comprehensive approaches for biomarker discovery and validation are urgently needed. One particular area of methodologic need is for discovery of novel genetic biomarkers in complex diseases and traits. Here, we review recent successes in the use of genome wide association (GWA) approaches to identify genetic biomarkers in common human diseases and traits. Such studies are yielding initial insights into the allelic architecture of complex traits. In general, it appears that complex diseases are associated with many common polymorphisms, implying profound genetic heterogeneity between affected individuals. PMID:19662211

  20. State of the art coronary heart disease risk estimations based on the Framingham heart study.

    PubMed

    Reissigová, J; Tomecková, M

    2005-12-01

    The aim was to review the most interesting articles dealing with estimations of an individual's absolute coronary heart disease risk based on the Framingham heart study. Besides the Framingham coronary heart disease risk functions, results of validation studies of these Framingham risk functions are discussed. In general, the Framingham risk functions overestimated an individual's absolute risk in external (non-Framingham) populations with a lower occurrence of coronary heart disease compared with the Framingham population, and underestimated it in populations with a higher occurrence of coronary heart disease. Even if the calibration accuracy of the Framingham risk functions were not satisfying, the Framingham risk functions were able to rank individuals according to risk from low-risk to high-risk groups, with the discrimination ability of 60% and more. PMID:16419382

  1. [Overseas disease: comparative studies of onchocerciasis in Latin America and Africa].

    PubMed

    Sá, Magali Romero; Maia-Herzog, Marilza

    2003-01-01

    Round worm is a parasite, Onchocera, and is transmitted by a black fly, simulidae; it can cause blindness. Originally from the African continent, where it is widespread, in Latin America it was first discovered in Guatemala in 1917; later instances were recorded in Mexico, Venezuela, Colombia and Brazil. The establishment of this disease in the Americas has intrigued scientists since then and today it is an open question. The multidisciplinary project described in this research note aims to investigate historical aspects of the arrival and spread of the disease in Latin America and, to make comparative studies of the history of the disease on both continents. The increasing importance of the disease has meant greater value being attributed to collections of simuliídeo, whose Brazilian species were first studied by Adolpho Lutz at the beginning of the 20th century. PMID:12901388

  2. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

    PubMed

    Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E L M; de Ligt, Joep; Jhangiani, Shalini N; Xie, Yajing; Tsang, Stephen H; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T; Clark, Robin D; Curry, Cynthia J; Link, Nichole; Schulze, Karen L; Boerwinkle, Eric; Dobyns, William B; Allikmets, Rando; Gibbs, Richard A; Chen, Rui; Lupski, James R; Wangler, Michael F; Bellen, Hugo J

    2014-09-25

    Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. PMID:25259927

  3. A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

    PubMed Central

    Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A.; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E. L. M.; de Ligt, Joep; Jhangiani, Shalini; Xie, Yajing; Tsang, Stephen H.; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T.; Clark, Robin D.; Curry, Cynthia J.; Link, Nichole; Schulze, Karen L.; Boerwinkle, Eric; Dobyns, William B.; Allikmets, Rando; Gibbs, Richard A.; Chen, Rui; Lupski, James R.; Wangler, Michael F.; Bellen, Hugo J.

    2014-01-01

    Summary Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X-chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human datasets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. PMID:25259927

  4. Epigenome-wide Association Studies and the Interpretation of Disease -Omics

    PubMed Central

    Birney, Ewan; Smith, George Davey

    2016-01-01

    Epigenome-wide association studies represent one means of applying genome-wide assays to identify molecular events that could be associated with human phenotypes. The epigenome is especially intriguing as a target for study, as epigenetic regulatory processes are, by definition, heritable from parent to daughter cells and are found to have transcriptional regulatory properties. As such, the epigenome is an attractive candidate for mediating long-term responses to cellular stimuli, such as environmental effects modifying disease risk. Such epigenomic studies represent a broader category of disease -omics, which suffer from multiple problems in design and execution that severely limit their interpretability. Here we define many of the problems with current epigenomic studies and propose solutions that can be applied to allow this and other disease -omics studies to achieve their potential for generating valuable insights. PMID:27336614

  5. A Study of Human Leukocyte D Locus Related Antigens in Graves' Disease

    PubMed Central

    Farid, Nadir R.; Sampson, Laura; Noel, Elke P.; Barnard, John M.; Mandeville, Robert; Larsen, Bodil; Marshall, William H.; Carter, Nicholas D.

    1979-01-01

    An association between Graves' disease and the human leukocyte antigen (HLA) system has previously been reported. The disease was more strongly associated with the HLA D locus antigen Dw3 than with HLA B8. Products of the HLA D locus are determined by the interaction of test cells with standard typing lymphocytes, a technically difficult procedure. Recently, it has been possible to type serologically for D locus related (DRw) specificities on peripheral bone marrow-derived (B) lymphocytes. Blood B lymphocytes from 50 unrelated controls and 41 patients with Graves' disease were typed for seven HLA DRw specificities. 28 patients with Graves' disease (68%) were positive for DRw3, in contrast to 14 controls (28%); whereas only 21 patients (50%) were HLA B8 positive, compared with 13 (26%) controls. Thus, positivity for DRw3 afforded a relative risk for Graves' disease of 5.5, whereas that for HLA B8 amounted to 3.0. Additionally, a family with multiple cases of Graves' disease in which the disease was previously shown to be inherited with the haplotype, was linked to DRw2, which suggests that the susceptibility to the disease was inherited in association with that antigen. Two HLA B/glyoxalase recombination events were observed in this family; in both instances HLA DRw followed HLA B. This study thus demonstrates that the disease susceptibility gene for Graves' disease is in strong linkage disequilibrium with DRw3; however, it may be associated with other DRw specificities and inherited within family units in association with them. PMID:105012

  6. Parkinson's disease progression at 30 years: a study of subthalamic deep brain-stimulated patients.

    PubMed

    Merola, Aristide; Zibetti, Maurizio; Angrisano, Serena; Rizzi, Laura; Ricchi, Valeria; Artusi, Carlo A; Lanotte, Michele; Rizzone, Mario G; Lopiano, Leonardo

    2011-07-01

    Clinical findings in Parkinson's disease suggest that most patients progressively develop disabling non-levodopa-responsive symptoms during the course of the disease. Nevertheless, several heterogeneous factors, such as clinical phenotype, age at onset and genetic aspects may influence the long-term clinical picture. In order to investigate the main features of long-term Parkinson's disease progression, we studied a cohort of 19 subjects treated with subthalamic nucleus deep brain stimulation after >20 years of disease, reporting clinical and neuropsychological data up to a mean of 30 years from disease onset. This group of patients was characterized by an early onset of disease, with a mean age of 38.63 years at Parkinson's disease onset, which was significantly lower than in the other long-term subthalamic nucleus deep brain stimulation follow-up cohorts reported in the literature. All subjects were regularly evaluated by a complete Unified Parkinson's Disease Rating Scale, a battery of neuropsychological tests and a clinical interview, intended to assess the rate of non-levodopa-responsive symptom progression. Clinical data were available for all patients at presurgical baseline and at 1, 3 and 5 years from the subthalamic nucleus deep brain stimulation surgical procedure, while follow-up data after >7 years were additionally reported in a subgroup of 14 patients. The clinical and neuropsychological performance progressively worsened during the course of follow-up; 64% of patients gradually developed falls, 86% dysphagia, 57% urinary incontinence and 43% dementia. A progressive worsening of motor symptoms was observed both in 'medication-ON' condition and in 'stimulation-ON' condition, with a parallel reduction in the synergistic effect of 'medication-ON/stimulation-ON' condition. Neuropsychological data also showed a gradual decline in the performances of all main cognitive domains, with an initial involvement of executive functions, followed by the impairment

  7. Experiences of patients identifying with chronic Lyme disease in the healthcare system: a qualitative study

    PubMed Central

    2014-01-01

    Background Chronic Lyme disease is a term that describes a constellation of persistent symptoms in patients with or without evidence of previous Borrelia burgdorferi infection. Patients labeled as having chronic Lyme disease have a substantial clinical burden. Little is known about chronic Lyme disease patient experiences in the healthcare system and their relationships with healthcare providers. The purpose of this study was to gather insights about the experiences of patients who carry a diagnosis of chronic Lyme disease in the United States healthcare system. Methods Qualitative, phenomenological study in 12 adult participants who identified themselves as having chronic Lyme disease. Semi-structured face-to-face in-depth interviews were conducted, 60–90 minutes in length, focusing on perceptions of disease burden and of their healthcare providers, using the dimensions of the Health Belief Model. Transcribed interviews were analyzed for emergent topics and themes in the categories of beliefs/understanding, personal history/narrative, consequences/limitations, management, and influences on care. Results Enrollment continued until theoretical saturation was obtained. Four major themes emerged from participants’ descriptions of their experiences and perceptions: 1) changes in health status and the social impact of chronic Lyme disease, 2) doubts about recovery and the future, 3) contrasting doctor-patient relationships, 4) and the use of unconventional therapies to treat chronic Lyme disease. Conclusions Participants reported a significant decline in health status associated with chronic Lyme disease and were often unsatisfied with care in conventional settings. Negative experiences were associated with reports of dismissive, patronizing, and condescending attitudes. Positive experiences were associated with providers who were reported to be attentive, optimistic, and supportive. Consultations with CAM practitioners and use of CAM therapies were common. Actively

  8. Prevalence of celiac disease in Germany: A prospective follow-up study

    PubMed Central

    Kratzer, Wolfgang; Kibele, Monika; Akinli, Atilla; Porzner, Marc; Boehm, Bernhard O; Koenig, Wolfgang; Oeztuerk, Suemeyra; Mason, Richard A; Mao, Ren; Haenle, Mark H

    2013-01-01

    AIM: To determine the prevalence of celiac disease in a randomly selected population sample. METHODS: A total of 2157 subjects (1036 males; 1121 females) participating in a population-based cross-sectional study underwent laboratory testing for tissue transglutaminase and antibodies to immunoglobulin A, endomysium and antigliadin. In a second step, all subjects who had been examined serologically were surveyed using a questionnaire that included questions specific to celiac disease. Subjects with positive antibody titers and those with histories positive for celiac disease then underwent biopsy. At the first follow up, antibody titers were again determined in these subjects and subjects were questioned regarding symptoms specific for celiac disease and disorders associated with celiac disease. The second follow up consisted of a telephone interview with subjects positive for celiac disease. RESULTS: Antibody tests consistent with celiac disease were reported in eight subjects, corresponding to an overall prevalence of 1:270 (8/2157). The prevalence among women was 1:224 and 1:518 in men. Classical symptoms were observed in 62.5% of subjects. Atypical celiac disease was present in 25.0%, and transient celiac disease in 12.5%. False-negative test results were returned in three subjects. This yields a sensitivity and specificity of 62.5% and 50.0%, respectively, for tissue transglutaminase immunoglobulin-A antibody; of 62.5% and 71.4% respectively, for endomysium antibody; and of 62.5% and 71.4%, respectively, for antigliadin antibody. CONCLUSION: The prevalence rate in our collective lies within the middle tertile of comparable studies in Europe. The use of a single antibody test for screening purposes must be called into question. PMID:23674868

  9. Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies

    PubMed Central

    George, Michaela F.; Briggs, Farren B.S.; Shao, Xiaorong; Gianfrancesco, Milena A.; Kockum, Ingrid; Harbo, Hanne F.; Celius, Elisabeth G.; Bos, Steffan D.; Hedström, Anna; Shen, Ling; Bernstein, Allan; Alfredsson, Lars; Hillert, Jan; Olsson, Tomas; Patsopoulos, Nikolaos A.; De Jager, Philip L.; Oturai, Annette B.; Søndergaard, Helle B.; Sellebjerg, Finn; Sorensen, Per S.; Gomez, Refujia; Caillier, Stacy J.; Cree, Bruce A.C.; Oksenberg, Jorge R.; Hauser, Stephen L.; D'Alfonso, Sandra; Leone, Maurizio A.; Boneschi, Filippo Martinelli; Sorosina, Melissa; van der Mei, Ingrid; Taylor, Bruce V.; Zhou, Yuan; Schaefer, Catherine

    2016-01-01

    Objective: We investigated the association between 52 risk variants identified through genome-wide association studies and disease severity in multiple sclerosis (MS). Methods: Ten unique MS case data sets were analyzed. The Multiple Sclerosis Severity Score (MSSS) was calculated using the Expanded Disability Status Scale at study entry and disease duration. MSSS was considered as a continuous variable and as 2 dichotomous variables (median and extreme ends; MSSS of ≤5 vs >5 and MSSS of <2.5 vs ≥7.5, respectively). Single nucleotide polymorphisms (SNPs) were examined individually and as both combined weighted genetic risk score (wGRS) and unweighted genetic risk score (GRS) for association with disease severity. Random-effects meta-analyses were conducted and adjusted for cohort, sex, age at onset, and HLA-DRB1*15:01. Results: A total of 7,125 MS cases were analyzed. The wGRS and GRS were not strongly associated with disease severity after accounting for cohort, sex, age at onset, and HLA-DRB1*15:01. After restricting analyses to cases with disease duration ≥10 years, associations were null (p value ≥0.05). No SNP was associated with disease severity after adjusting for multiple testing. Conclusions: The largest meta-analysis of established MS genetic risk variants and disease severity, to date, was performed. Results suggest that the investigated MS genetic risk variants are not associated with MSSS, even after controlling for potential confounders. Further research in large cohorts is needed to identify genetic determinants of disease severity using sensitive clinical and MRI measures, which are critical to understanding disease mechanisms and guiding development of effective treatments. PMID:27540591

  10. Association Study of rs3184504 C>T Polymorphism in Patients With Coronary Artery Disease

    PubMed Central

    Aghabozorg Afjeh, Sarah Sadat; Ghaderian, Sayyed Mohammad Hossein; Mirfakhraie, Reza; Piryaei, Mohammad; Zaim Kohan, Hooshang

    2014-01-01

    Cardiovascular disease has become the main factor of death and birth defects in the world and also in Iran. New clinical studies have shown that early diagnosis of patients with coronary artery disease (CAD) can contribute to effective prevention or therapeutic structures, which reduce mortality or the next chance of cardiovascular events, and increase the quality of life. Most studies on CAD disease and its genetic risk factors so far, have been done excluding the Iranian population. PubMed was used to search for all relevant studies published on or before 2013 and rs3184504 was selected for association study for CAD. A total of 200 subjects with 100 cases and 100 controls were ultimately included in the analysis. Blood samples were collected and after DNA extraction the DNA analysis was performed by TaqMan Probe Real Time PCR to evaluate the association between candidate variant with the disease and some blood biochemical factors. Our study demonstrated that there was not a direct association between rs3184504 C>T variant with risk of CAD in Iranian population, whereas, there is a significant association between this variant with increased blood LDL and diastolic blood pressure. Further molecular analysis and other disease association studies are necessary in the Iranian population. PMID:25317402

  11. The Space From Heart Disease Intervention for People With Cardiovascular Disease and Distress: A Mixed-Methods Study

    PubMed Central

    Clifton, Abigail; Lee, Geraldine; Norman, Ian J; O'Callaghan, David; Tierney, Karen; Richards, Derek

    2015-01-01

    Background Poor self-management of symptoms and psychological distress leads to worse outcomes and excess health service use in cardiovascular disease (CVD). Online-delivered therapy is effective, but generic interventions lack relevance for people with specific long-term conditions, such as cardiovascular disease. Objective To develop a comprehensive online CVD-specific intervention to improve both self-management and well-being, and to test acceptability and feasibility. Methods Informed by the Medical Research Council (MRC) guidance for the development of complex interventions, we adapted an existing evidence-based generic intervention for depression and anxiety for people with CVD. Content was informed by a literature review of existing resources and trial evidence, and the findings of a focus group study. Think-aloud usability testing was conducted to identify improvements to design and content. Acceptability and feasibility were tested in a cross-sectional study. Results Focus group participants (n=10) agreed that no existing resource met all their needs. Improvements such as "collapse and expand" features were added based on findings that participants’ information needs varied, and specific information, such as detecting heart attacks and when to seek help, was added. Think-aloud testing (n=2) led to changes in font size and design changes around navigation. All participants of the cross-sectional study (10/10, 100%) were able to access and use the intervention. Reported satisfaction was good, although the intervention was perceived to lack relevance for people without comorbid psychological distress. Conclusions We have developed an evidence-based, theory-informed, user-led online intervention for improving self-management and well-being in CVD. The use of multiple evaluation tests informed improvements to content and usability. Preliminary acceptability and feasibility has been demonstrated. The Space from Heart Disease intervention is now ready to be

  12. [Treatment and outcome of Crohn's disease without initial complications. Results of a retrospective, multicenter Tunisian study].

    PubMed

    Cheikh, Imed; Ben Ammar, Ahmed; Essid, Mejda; Azzouz, Messadak; Ettahri, Nabil; Krichene, Mohamed; Bouzaidi, Slim; Ennajar, Taoufik

    2002-04-01

    The purpose of this study was to estimate and achieve the factors that have an influence on the evolution of the Chron's disease. This study was done in 124 patients reaching the diagnosis of Chron's disease between 1988 and 1997. The evolution of this disease was achieved in 87 patients. The Chron's disease was inactive among 31 patients (35-6%)--with discontinous evolution in 42 patients (48.3%) and active chronic in 14 patients (16-1%). The active chronic form of Chron's disease was twice more frequent among the smokers and the patients with age above 40 years--but this difference has no statistical significance. The indication of surgical treatment was realised in 21 patients and it takes place as result of failure of medical treatment in 16 patients (76-2%)--an abcess in 2 patents (9-5%) and iatrogenic perforation in 1 patient (4-8%). The age-sexe-smoke--the intensity of the initial attack and the nature of the treatment had no influence in the need of the surgical interfference. The Chron's disease showed the less severe evolution in this study--the age above 40 years and the consumption of smoke increased the frequency of active chronic form. PMID:12416354

  13. Preliminary studies: differences in microRNA expression in asthma and chronic obstructive pulmonary disease

    PubMed Central

    Pająk, Aneta; Górski, Paweł; Kuna, Piotr; Szemraj, Janusz; Goździńska-Nielepkowicz, Agnieszka; Pietras, Tadeusz

    2016-01-01

    Introduction The asthma- and chronic obstructive pulmonary disease (COPD)-related morbidity has been increasing during the recent years. Both asthma and COPD are diseases of inflammatory etiology. The increasing interest in the pathomechanisms involved in the development of obstructive pulmonary diseases seems to be fully justified. Recent research has attempted to determine the associations of microRNA with the pathogenesis of pulmonary diseases. Aim To assess the expression of microRNA in the blood sera of patients diagnosed with bronchial asthma and chronic obstructive pulmonary disease in comparison with healthy subjects. Material and methods In our study, at the preliminary stage, we compared the expression of miRNA in the groups of patients with asthma and COPD versus the control group of healthy subjects. Results A significant difference in hsa-miRNA-224, hsa-miRNA-339-5p, hsa-miRNA-382 in patients with asthma and COPD as compared with the controls was noted. Conclusions With such difference of expression of specific micro-RNA in serum of patient with asthma and COPD, those small non-coding RNA has to play a significant role in those diseases pathway. Therefore we expect to increase the size and differentation of the study groups in next studies. PMID:27605898

  14. Prevalence of Alzheimer's disease and vascular dementia: association with education. The Rotterdam study.

    PubMed Central

    Ott, A.; Breteler, M. M.; van Harskamp, F.; Claus, J. J.; van der Cammen, T. J.; Grobbee, D. E.; Hofman, A.

    1995-01-01

    OBJECTIVE--To estimate the prevalence of dementia and its subtypes in the general population and examine the relation of the disease to education. DESIGN--Population based cross sectional study. SETTING--Ommoord, a suburb of Rotterdam. SUBJECTS--7528 participants of the Rotterdam study aged 55-106 years. RESULTS--474 cases of dementia were detected, giving an overall prevalence of 6.3%. Prevalence ranged from 0.4% (5/1181 subjects) at age 55-59 years to 43.2% (19/44) at 95 years and over. Alzheimer's disease was the main subdiagnosis (339 cases; 72%); it was also the main cause of the pronounced increase in dementia with age. The relative proportion of vascular dementia (76 cases; 16%), Parkinson's disease dementia (30; 6%), and other dementias (24; 5%) decreased with age. A substantially higher prevalence of dementia was found in subjects with a low level of education. The association with education was not due to confounding by cardiovascular disease. CONCLUSIONS--The prevalence of dementia increases exponentially with age. About one third of the population aged 85 and over has dementia. Three quarters of all dementia is due to Alzheimer's disease. In this study an inverse dose-response relation was found between education and dementia--in particular, Alzheimer's disease. PMID:7728032

  15. Sparse Multi-Response Tensor Regression for Alzheimer's Disease Study With Multivariate Clinical Assessments.

    PubMed

    Li, Zhou; Suk, Heung-Il; Shen, Dinggang; Li, Lexin

    2016-08-01

    Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disorder that has recently seen serious increase in the number of affected subjects. In the last decade, neuroimaging has been shown to be a useful tool to understand AD and its prodromal stage, amnestic mild cognitive impairment (MCI). The majority of AD/MCI studies have focused on disease diagnosis, by formulating the problem as classification with a binary outcome of AD/MCI or healthy controls. There have recently emerged studies that associate image scans with continuous clinical scores that are expected to contain richer information than a binary outcome. However, very few studies aim at modeling multiple clinical scores simultaneously, even though it is commonly conceived that multivariate outcomes provide correlated and complementary information about the disease pathology. In this article, we propose a sparse multi-response tensor regression method to model multiple outcomes jointly as well as to model multiple voxels of an image jointly. The proposed method is particularly useful to both infer clinical scores and thus disease diagnosis, and to identify brain subregions that are highly relevant to the disease outcomes. We conducted experiments on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset, and showed that the proposed method enhances the performance and clearly outperforms the competing solutions. PMID:26960221

  16. The Role of DNA Methylation in Cardiovascular Risk and Disease: Methodological Aspects, Study Design, and Data Analysis for Epidemiological Studies.

    PubMed

    Zhong, Jia; Agha, Golareh; Baccarelli, Andrea A

    2016-01-01

    Epidemiological studies have demonstrated that genetic, environmental, behavioral, and clinical factors contribute to cardiovascular disease development. How these risk factors interact at the cellular level to cause cardiovascular disease is not well known. Epigenetic epidemiology enables researchers to explore critical links between genomic coding, modifiable exposures, and manifestation of disease phenotype. One epigenetic link, DNA methylation, is potentially an important mechanism underlying these associations. In the past decade, there has been a significant increase in the number of epidemiological studies investigating cardiovascular risk factors and outcomes in relation to DNA methylation, but many gaps remain in our understanding of the underlying cause and biological implications. In this review, we provide a brief overview of the biology and mechanisms of DNA methylation and its role in cardiovascular disease. In addition, we summarize the current evidence base in epigenetic epidemiology studies relevant to cardiovascular health and disease and discuss the limitations, challenges, and future directions of the field. Finally, we provide guidelines for well-designed epigenetic epidemiology studies, with particular focus on methodological aspects, study design, and analytical challenges. PMID:26837743

  17. Methods for determining disease burden and calibrating national surveillance data in the United Kingdom: the second study of infectious intestinal disease in the community (IID2 study)

    PubMed Central

    2010-01-01

    Background Infectious intestinal disease (IID), usually presenting as diarrhoea and vomiting, is frequently preventable. Though often mild and self-limiting, its commonness makes IID an important public health problem. In the mid 1990s around 1 in 5 people in England suffered from IID a year, costing around £0.75 billion. No routine information source describes the UK's current community burden of IID. We present here the methods for a study to determine rates and aetiology of IID in the community, presenting to primary care and recorded in national surveillance statistics. We will also outline methods to determine whether or not incidence has declined since the mid-1990s. Methods/design The Second Study of Infectious Intestinal Disease in the Community (IID2 Study) comprises several separate but related studies. We use two methods to describe IID burden in the community - a retrospective telephone survey of self-reported illness and a prospective, all-age, population-based cohort study with weekly follow-up over a calendar year. Results from the two methods will be compared. To determine IID burden presenting to primary care we perform a prospective study of people presenting to their General Practitioner with symptoms of IID, in which we intervene in clinical and laboratory practice, and an audit of routine clinical and laboratory practice in primary care. We determine aetiology of IID using molecular methods for a wide range of gastrointestinal pathogens, in addition to conventional diagnostic microbiological techniques, and characterise isolates further through reference typing. Finally, we combine all our results to calibrate national surveillance data. Discussion Researchers disagree about the best method(s) to ascertain disease burden. Our study will allow an evaluation of methods to determine the community burden of IID by comparing the different approaches to estimate IID incidence in its linked components. PMID:20444246

  18. Emotional and behavioral symptoms in neurodegenerative disease: A model for studying the neural bases of psychopathology

    PubMed Central

    Levenson, Robert W.; Sturm, Virginia E.; Haase, Claudia M.

    2014-01-01

    Disruptions in emotional, cognitive, and social behavior are common in neurodegenerative disease and many forms of psychopathology. Because neurodegenerative diseases have much clearer patterns of brain atrophy, they may provide a window into the neural bases of these common symptoms. We discuss five common symptoms that occur in both neurodegenerative disease and psychopathology (i.e., anxiety, dysphoric mood, apathy, disinhibition, and euphoric mood) and their associated neural circuitry. We focus on two neurodegenerative diseases (i.e., Alzheimer’s disease and frontotemporal dementia) that are common and well-characterized in terms of emotion, cognition, and social behavior and in patterns of associated neuropathology. Neurodegenerative diseases provide a powerful model system for studying the neural correlates of psychopathological symptoms; this is supported by evidence indicating convergence with psychiatric syndromes (e.g., symptoms of disinhibition associated with dysfunction in orbitofrontal cortex and inferior frontal gyrus in both frontotemporal dementia and bipolar disorder). We conclude that neurodegenerative diseases can play an important role in future approaches to the assessment, prevention, and treatment of mental illness. PMID:24437433

  19. A STUDY OF THE ASSOCIATION BETWEEN SELENIUM AND CARDIOVASCULAR DISEASE IN LAMPUNG, INDONESIA.

    PubMed

    Mutakin; Rivai, Ida F; Setiawan, Andi; Abdulah, Rizky; Kobayashi, Kenji; Yamazaki, Chiho; Kameo, Satomi; Nakazawa, Minato; Koyama, Hiroshi

    2016-03-01

    Selenium deficient areas have been associated with a higher prevalence of cardiovascular disease in some countries. In this study, we investigated the correlation between cardiovascular disease prevalence and selenium concentration in paddy soil and rice grains, the main staple food in Lampung, Indonesia. Paddy soil and rice samples (n(s) = 35) from eight regencies (n(d) = 8) in Lampung were analyzed for selenium content. The prevalences of heart disease, stroke, and hypertension in those regencies were obtained from the Ministry of Health of Indonesia. The Shapiro-Wilk's test was used to examine the data distribution. The Pearson's correlation was used to examine the correlation between cardiovascular disease prevalence and selenium concentration in the paddy soil and rice grains. Heart disease prevalence was negatively correlated with the selenium concentration in the paddy soil (r = -0.77, p = 0.02) and rice grain (r = -0.71, p = 0.05). A negative correlation was seen for stroke prevalence and selenium concentration in paddy soil (r = -0.76, p = 0.02). Hypertension prevalence was negatively correlated with the selenium concentration in the rice grains (r = -0.83, p = 0.01). These findings suggest that the selenium concentration in paddy soil and rice grains in the Lampung area may play a role in the fact the area has the lowest cardiovascular disease prevalence in Indonesia. Keywords: selenium, cardiovascular diseases, paddy soil, rice grain, Indonesia PMID:27244968

  20. Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study

    PubMed Central

    Cabrera, Laura Y; Beattie, B Lynn; Dwosh, Emily; Illes, Judy

    2015-01-01

    Objectives: In 2007, a novel pathogenic genetic mutation associated with early onset familial Alzheimer disease was identified in a large First Nation family living in communities across British Columbia, Canada. Building on a community-based participatory study with members of the Nation, we sought to explore the impact and interplay of medicalization with the Nation’s knowledge and approaches to wellness in relation to early onset familial Alzheimer disease. Methods: We performed a secondary content analysis of focus group discussions and interviews with 48 members of the Nation between 2012 and 2013. The analysis focused specifically on geneticization, medicalization, and traditional knowledge of early onset familial Alzheimer disease, as these themes were prominent in the primary analysis. Results: We found that while biomedical explanations of disease permeate the knowledge and understanding of early onset familial Alzheimer disease, traditional concepts about wellness are upheld simultaneously. Conclusion: The analysis brings the theoretical framework of “two-eyed seeing” to the case of early onset familial Alzheimer disease for which the contributions of different ways of knowing are embraced, and in which traditional and western ways complement each other on the path of maintaining wellness in the face of progressive neurologic disease. PMID:27092264

  1. Global mortality, disability, and the contribution of risk factors: Global Burden of Disease Study.

    PubMed

    Murray, C J; Lopez, A D

    1997-05-17

    The Global Burden of Disease Study used the disability-adjusted life-year (DALY) to compare death and disability from various disorders in developing and developed countries. In 1990, developing countries carried almost 90% of the global disease burden yet were recipients of only 10% of global health care funding. The highest disease burdens were in sub-Saharan Africa (21.4% of global total) and India (20.9%). Communicable, maternal, perinatal, and nutritional disorders (group 1 causes) predominated in sub-Saharan Africa (65.9% of burden), while noncommunicable diseases (group 2 causes) accounted for 80% of the burden in established market economies; injuries (group 3) did not differ substantially across regions. The ratio of group 2 to group 1 disorders can be used as a measure of the epidemiologic transition. Group 2 disorders already surpass group 1 disorders in China, Latin America, and the Caribbean. On a global level, group 1, 2, and 3 causes accounted for 43.9%, 40.9%, and 15.1%, respectively, of DALYs. Overall, the top 3 causes of DALYs in 1990 were lower respiratory infections, diarrheal diseases, and perinatal disorders (low birth weight and birth asphyxia or birth trauma). In developed countries, these causes were ischemic heart disease, unipolar major depression, and cerebrovascular diseases. Malnutrition was the risk factor responsible for the greatest loss of DALYs (15.9%), followed by poor water supply, sanitation, and personal hygiene (6.8%). PMID:9164317

  2. The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

    PubMed

    Stokman, Marijn F; Renkema, Kirsten Y; Giles, Rachel H; Schaefer, Franz; Knoers, Nine V A M; van Eerde, Albertien M

    2016-08-01

    Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on clinical grounds, on genetic evidence or a combination thereof. Here, we discuss the major kidney disease-associated genes and gene categories for which NGS has expanded the phenotypic spectrum. For example, COL4A3-5 genes, which are classically associated with Alport syndrome, are now understood to also be involved in the aetiology of focal segmental glomerulosclerosis. DGKE, which is associated with nephrotic syndrome, is also mutated in patients with atypical haemolytic uraemic syndrome. We examine how a shared genetic background between diverse clinical phenotypes can provide insight into the function of genes and novel links with essential pathophysiological mechanisms. In addition, we consider genetic and epigenetic factors that contribute to the observed phenotypic heterogeneity of kidney diseases and discuss the challenges in the interpretation of genetic data. Finally, we discuss the implications of the expanding phenotypic spectra associated with kidney disease genes for clinical practice, genetic counselling and personalized care, and present our recommendations for the use of NGS-based tests in routine nephrology practice. PMID:27374918

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

    PubMed

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

    2016-07-01

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

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

    PubMed Central

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

    2016-01-01

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

  5. Oral health and oromotor function in rare diseases--a database study.

    PubMed

    Sjögreen, Lotta; Andersson-Norinder, Jan; Bratel, John

    2015-01-01

    The aim was to study oral health and oromotor function in individuals with rare diseases. A disease is defined as rare when it affects no more than 100 individuals per million population and leads to a marked degree of disability. An affected nervous or musculoskeletal system, cognitive impairment, neuropsychiatric disorders and craniofacial malformations are common in rare diseases and may all be risk factors for oral health and oromotor function. In 1996-2008, 1,703 individuals with 169 rare diseases, aged 3-67 years, answered a questionnaire about general health, oral health and orofacial function and 1,614 participated in a clinical examination. A control group of 135 healthy children, aged 3-14 years, was also included in the study. Oral health was examined by a dentist and oromotor function by a speech-language pathologist. The participants with rare diseases were recruited via family programmes, referrals to the clinic and research projects, while the controls were randomly selected from a Swedish municipality. In the diagnosis group, 40% had moderate or severe problems coping with dental treatment, 43% were receiving specialised dental care. Difficulties related to tooth brushing were common compared with the controls. Approximately two thirds of the study group and the control group were caries free. Frontal open bite, long face and high palate were common in individuals with rare diseases compared with controls. Oromotor impairment was a frequent finding (43%) and was absent among the controls. There was a significant correlation between oromotor impairment and certain structural deviations and oral-health issues. Compared with healthy controls, individuals with rare diseases often have difficulty coping with dental treatment and managing tooth brushing. Dysmorphology and oromotor dysfunction are frequent findings in this population and they often require extra prophylactic dental care and access to specialised dental care in order to prevent oral disease

  6. A Novel Lung Disease Phenotype Adjusted for Mortality Attrition for Cystic Fibrosis Genetic Modifier Studies

    PubMed Central

    Taylor, Chelsea; Commander, Clayton W.; Collaco, Joseph M.; Strug, Lisa J.; Li, Weili; Wright, Fred A.; Webel, Aaron D.; Pace, Rhonda G.; Stonebraker, Jaclyn R.; Naughton, Kathleen; Dorfman, Ruslan; Sandford, Andrew; Blackman, Scott M.; Berthiaume, Yves; Paré, Peter; Drumm, Mitchell L.; Zielenski, Julian; Durie, Peter; Cutting, Garry R.; Knowles, Michael R.; Corey, Mary

    2011-01-01

    SUMMARY Genetic studies of lung disease in Cystic Fibrosis are hampered by the lack of a severity measure that accounts for chronic disease progression and mortality attrition. Further, combining analyses across studies requires common phenotypes that are robust to study design and patient ascertainment. Using data from the North American Cystic Fibrosis Modifier Consortium (Canadian Consortium for CF Genetic Studies, Johns Hopkins University CF Twin and Sibling Study, and University of North Carolina/Case Western Reserve University Gene Modifier Study), the authors calculated age-specific CF percentile values of FEV1 which were adjusted for CF age-specific mortality data. The phenotype was computed for 2061 patients representing the Canadian CF population, 1137 extreme phenotype patients in the UNC/Case Western study, and 1323 patients from multiple CF sib families in the CF Twin and Sibling Study. Despite differences in ascertainment and median age, our phenotype score was distributed in all three samples in a manner consistent with ascertainment differences, reflecting the lung disease severity of each individual in the underlying population. The new phenotype score was highly correlated with the previously recommended complex phenotype, but the new phenotype is more robust for shorter follow-up and for extreme ages. A disease progression and mortality adjusted phenotype reduces the need for stratification or additional covariates, increasing statistical power and avoiding possible distortions. This approach will facilitate large scale genetic and environmental epidemiological studies which will provide targeted therapeutic pathways for the clinical benefit of patients with CF. PMID:21462361

  7. Incidence and risk factors of post-engraftment invasive fungal disease in adult allogeneic hematopoietic stem cell transplant recipients receiving oral azoles prophylaxis.

    PubMed

    Montesinos, P; Rodríguez-Veiga, R; Boluda, B; Martínez-Cuadrón, D; Cano, I; Lancharro, A; Sanz, J; Arilla, M J; López-Chuliá, F; Navarro, I; Lorenzo, I; Salavert, M; Pemán, J; Calvillo, P; Martínez, J; Carpio, N; Jarque, I; Sanz, G F; Sanz, M A

    2015-11-01

    Studies that analyze the epidemiology and risk factors for invasive fungal disease (IFD) after engraftment in alloSCT are few in number. This single-center retrospective study included 404 alloSCT adult recipients surviving >40 days who engrafted and were discharged without prior IFD. All patients who received ⩾20 mg/day of prednisone were assigned to primary oral prophylaxis (itraconazole or low-dose voriconazole). The primary end point was the cumulative incidence (CI) of probable/proven IFD using the European Organization for Research and Treatment of Cancer and Mycoses Study Group (EORTC/MSG) criteria. The independent prognostic factors after multivariate analyses were used to construct a post-engraftment IFD risk score. The 1-year CI of IFD was 11%. The non-relapse mortality was 40% in those developing IFD and 16% in those who did not. The intent-to-treat analysis showed that 17% of patients abandoned the assigned prophylaxis. Age >40 years, ⩾1 previous SCT, pre-engraftment neutropenia >15 days, extensive chronic GVHD and CMV reactivation were independent risk factors. The post-engraftment IFD score stratified patients into low risk (0-1 factor, CI 0.7%), intermediate risk (2 factors, CI 9.9%) and high risk (3-5 factors, CI 24.7%) (P<0.0001). The antifungal prophylaxis strategy failed to prevent post-engraftment IFD in 11% of alloSCT. Our risk score could be useful to implement risk-adapted strategies using antifungal prophylaxis after engraftment. PMID:26281032

  8. Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants

    PubMed Central

    Crook, Julia; Pankratz, V. Shane; Carrasquillo, Minerva M.; Rowley, Christopher N.; Nair, Asha A.; Middha, Sumit; Maharjan, Sooraj; Nguyen, Thuy; Ma, Li; Malphrus, Kimberly G.; Palusak, Ryan; Lincoln, Sarah; Bisceglio, Gina; Georgescu, Constantin; Kouri, Naomi; Kolbert, Christopher P.; Jen, Jin; Haines, Jonathan L.; Mayeux, Richard; Pericak-Vance, Margaret A.; Farrer, Lindsay A.; Schellenberg, Gerard D.; Petersen, Ronald C.; Graff-Radford, Neill R.; Dickson, Dennis W.; Younkin, Steven G.; Ertekin-Taner, Nilüfer

    2012-01-01

    Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n = 197, temporal cortex n = 202) and with other brain pathologies (non–AD, cerebellar n = 177, temporal cortex n = 197). We conducted an expression genome-wide association study (eGWAS) using 213,528 cisSNPs within ±100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs) significant in both ADs and non–ADs (q<0.05, p = 7.70×10−5–1.67×10−82). Of these, 2,089 were also significant in the temporal cortex (p = 1.85×10−5–1.70×10−141). The top cerebellar cisSNPs had 2.4-fold enrichment for human disease-associated variants (p<10−6). We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. In our eGWAS, there was 2.9–3.3 fold enrichment (p<10−6) of significant cisSNPs with suggestive AD–risk association (p<10−3) in the Alzheimer's Disease Genetics Consortium GWAS. These results demonstrate the significant contributions of genetic factors to human brain gene expression, which are reliably detected across different brain regions and pathologies. The significant enrichment of brain cisSNPs among disease-associated variants advocates gene expression changes as a mechanism for many central nervous system (CNS) and non–CNS diseases. Combined assessment of expression and disease GWAS may provide complementary information in discovery of human disease variants with

  9. Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.

    PubMed

    Zou, Fanggeng; Chai, High Seng; Younkin, Curtis S; Allen, Mariet; Crook, Julia; Pankratz, V Shane; Carrasquillo, Minerva M; Rowley, Christopher N; Nair, Asha A; Middha, Sumit; Maharjan, Sooraj; Nguyen, Thuy; Ma, Li; Malphrus, Kimberly G; Palusak, Ryan; Lincoln, Sarah; Bisceglio, Gina; Georgescu, Constantin; Kouri, Naomi; Kolbert, Christopher P; Jen, Jin; Haines, Jonathan L; Mayeux, Richard; Pericak-Vance, Margaret A; Farrer, Lindsay A; Schellenberg, Gerard D; Petersen, Ronald C; Graff-Radford, Neill R; Dickson, Dennis W; Younkin, Steven G; Ertekin-Taner, Nilüfer

    2012-01-01

    Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n=197, temporal cortex n=202) and with other brain pathologies (non-AD, cerebellar n=177, temporal cortex n=197). We conducted an expression genome-wide association study (eGWAS) using 213,528 cisSNPs within ± 100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs) significant in both ADs and non-ADs (q<0.05, p=7.70 × 10(-5)-1.67 × 10(-82)). Of these, 2,089 were also significant in the temporal cortex (p=1.85 × 10(-5)-1.70 × 10(-141)). The top cerebellar cisSNPs had 2.4-fold enrichment for human disease-associated variants (p<10(-6)). We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. In our eGWAS, there was 2.9-3.3 fold enrichment (p<10(-6)) of significant cisSNPs with suggestive AD-risk association (p<10(-3)) in the Alzheimer's Disease Genetics Consortium GWAS. These results demonstrate the significant contributions of genetic factors to human brain gene expression, which are reliably detected across different brain regions and pathologies. The significant enrichment of brain cisSNPs among disease-associated variants advocates gene expression changes as a mechanism for many central nervous system (CNS) and non-CNS diseases. Combined assessment of expression and disease GWAS may provide complementary information in discovery of human disease variants with functional implications. Our findings

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

    PubMed Central

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

    2014-01-01

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

  11. Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases.

    PubMed

    Sun, Yan V; Hu, Yi-Juan

    2016-01-01

    Complex and dynamic networks of molecules are involved in human diseases. High-throughput technologies enable omics studies interrogating thousands to millions of makers with similar biochemical properties (eg, transcriptomics for RNA transcripts). However, a single layer of "omics" can only provide limited insights into the biological mechanisms of a disease. In the case of genome-wide association studies, although thousands of single nucleotide polymorphisms have been identified for complex diseases and traits, the functional implications and mechanisms of the associated loci are largely unknown. Additionally, the genomic variants alone are not able to explain the changing disease risk across the life span. DNA, RNA, protein, and metabolite often have complementary roles to jointly perform a certain biological function. Such complementary effects and synergistic interactions between omic layers in the life course can only be captured by integrative study of multiple molecular layers. Building upon the success in single-omics discovery research, population studies started adopting the multi-omics approach to better understanding the molecular function and disease etiology. Multi-omics approaches integrate data obtained from different omic levels to understand their interrelation and combined influence on the disease processes. Here, we summarize major omics approaches available in population research, and review integrative approaches and methodologies interrogating multiple omic layers, which enhance the gene discovery and functional analysis of human diseases. We seek to provide analytical recommendations for different types of multi-omics data and study designs to guide the emerging multi-omic research, and to suggest improvement of the existing analytical methods. PMID:26915271

  12. Prevalence of chronic diseases among physicians in Taiwan: a population-based cross-sectional study

    PubMed Central

    Kao, Li-Ting; Chiu, Yu-Lung; Lin, Herng-Ching; Lee, Hsin-Chien; Chung, Shiu-Dong

    2016-01-01

    Objectives The health of physicians is an important topic which needs to be addressed in order to provide the best quality of patient care. However, there are few studies on the prevalence of chronic diseases among physicians. In this study, we explored the prevalence of chronic diseases among physicians and compared the probability of chronic diseases between physicians and the general population using a population-based data set in Taiwan. Study design A cross-sectional study. Setting Taiwan. Participants Our study consisted of 1426 practising physicians and 5704 general participants. Primary outcome measures We chose 22 chronic diseases from the Elixhauser Comorbidity index and nine highly prevalent medical conditions in an Asian population for analysis. We used conditional logistic regression analyses to investigate the OR and its corresponding 95% CI of chronic diseases between these two groups. Results The conditional logistic regression analyses showed that physicians had lower odds of peripheral vascular disorders (OR=0.41, 95% CI=0.19 to 0.90), uncomplicated diabetes (OR=0.76, 95% CI=0.60 to 0.97), complicated diabetes (OR=0.53, 95% CI=0.34 to 0.83), renal failure (OR=0.41, 95% CI=0.19 to 0.90), liver diseases (OR=0.78, 95% CI=0.66 to 0.94), and hepatitis B or C (OR=0.62, 95% CI=0.49 to 0.77) and higher odds of hypertension (OR=1.21, 95% CI=1.03 to 1.41), hyperlipidaemia (OR=1.43, 95% CI=1.23 to 1.67) and asthma (OR=1.59, 95% CI=1.16 to 2.18) than the general population. Conclusions We concluded that although physicians had decreased prevalence of some chronic diseases, they had a significantly increased prevalence of hypertension, hyperlipidaemia and asthma. PMID:26940106

  13. Grip Force Modulation Characteristics as a Marker for Clinical Disease Progression in Individuals With Parkinson Disease: Case-Control Study

    PubMed Central

    Scherer, Reinhold; Matsuoka, Yoky; Kelly, Valerie E.

    2015-01-01

    Background Upper extremity deficits are prevalent in individuals with Parkinson disease (PD). In the early stages of PD, such deficits can be subtle and challenging to document on clinical examination. Objective The purpose of this study was to use a novel force sensor system to characterize grip force modulation, including force, temporal, and movement quality parameters, during a fine motor control task in individuals with early stage PD. Design A case-control study was conducted. Methods Fourteen individuals with early stage PD were compared with a control group of 14 healthy older adults. The relationship of force modulation parameters with motor symptom severity and disease chronicity also was assessed in people with PD. Force was measured during both precision and power grasp tasks using an instrumented twist-cap device capable of rotating in either direction. Results Compared with the control group, the PD group demonstrated more movement arrests during both precision and power grasp and longer total movement times during the power grasp. These deficits persisted when a concurrent cognitive task was added, with some evidence of force control deficits in the PD group, including lower rates of force production during the precision grasp task and higher peak forces during the power grasp task. For precision grasp, a higher number of movement arrests in single- and dual-task conditions as well as longer total movement times in the dual-task condition were associated with more severe motor symptoms. Limitations The sample was small and consisted of individuals in the early stages of PD with mild motor deficits. The group with PD was predominantly male, whereas the control group was predominantly female. Conclusion The results suggest that assessing grip force modulation deficits during fine motor tasks is possible with instrumented devices, and such sensitive measures may be important for detecting and tracking change early in the progression of PD. PMID:25476717

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

    PubMed Central

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

    2016-01-01

    Background: Immune mechanism shares a common pathway both for systemic autoimmune diseases and periodontal diseases. Scientific exploration of literature revealed limited studies on the association between systemic autoimmune diseases and periodontal diseases in India. Aim: The aim of the study is to find whether the presence of systemic autoimmune diseases in an individual is a risk factor for the development of periodontal disease. Settings and Design: This was a hospital-based case–control study. Materials and Methods: A sample of 253 patients with systemic autoimmune diseases, attending the Rheumatology Department of Government General Hospital, Chennai-3, and 262 patients without systemic autoimmune diseases, attending the outpatient department of the Tamil Nadu Government Dental College and Hospital, Chennai-3, constituted the case and control groups, respectively. Age, gender, and oral hygiene status matching was done. Oral hygiene status was assessed using oral hygiene index (OHI) and periodontal status was assessed using community periodontal index (CPI) and loss of attachment (LOA) index. Statistical Analysis: Statistical analysis was done using SPSS version 15 (SPSS Inc, 2006, Chicago). Results: Results showed 99.2% and 73.9% prevalence of gingivitis and periodontitis, respectively, in the case group as compared to 85.5% and 14.9%, respectively, in the control group. There is no linear relationship between OHI scores and prevalence of periodontitis (CPI and LOA scores) in the case group. Patients suffering from systemic autoimmune diseases showed more prevalence of periodontal diseases irrespective of oral hygiene scores. Conclusion: It is postulated that the presence of systemic autoimmune diseases may pose a risk for the development of periodontal diseases. PMID:27307662

  15. Environmental risk factors for Parkinson's disease and parkinsonism: the Geoparkinson study

    PubMed Central

    Dick, F D; De Palma, G; Ahmadi, A; Scott, N W; Prescott, G J; Bennett, J; Semple, S; Dick, S; Counsell, C; Mozzoni, P; Haites, N; Wettinger, S Bezzina; Mutti, A; Otelea, M; Seaton, A; Söderkvist, P; Felice, A

    2007-01-01

    Objective To investigate the associations between Parkinson's disease and other degenerative parkinsonian syndromes and environmental factors in five European countries. Methods A case–control study of 959 prevalent cases of parkinsonism (767 with Parkinson's disease) and 1989 controls in Scotland, Italy, Sweden, Romania and Malta was carried out. Cases were defined using the United Kingdom Parkinson's Disease Society Brain Bank criteria, and those with drug‐induced or vascular parkinsonism or dementia were excluded. Subjects completed an interviewer‐administered questionnaire about lifetime occupational and hobby exposure to solvents, pesticides, iron, copper and manganese. Lifetime and average annual exposures were estimated blind to disease status using a job‐exposure matrix modified by subjective exposure modelling. Results were analysed using multiple logistic regression, adjusting for age, sex, country, tobacco use, ever knocked unconscious and family history of Parkinson's disease. Results Adjusted logistic regression analyses showed significantly increased odds ratios for Parkinson's disease/parkinsonism with an exposure–response relationship for pesticides (low vs no exposure, odds ratio (OR) = 1.13, 95% CI 0.82 to 1.57, high vs no exposure, OR = 1.41, 95% CI 1.06 to 1.88) and ever knocked unconscious (once vs never, OR = 1.35, 95% CI 1.09 to 1.68, more than once vs never, OR = 2.53, 95% CI 1.78 to 3.59). Hypnotic, anxiolytic or antidepressant drug use for more than 1 year and a family history of Parkinson's disease showed significantly increased odds ratios. Tobacco use was protective (OR = 0.50, 95% CI 0.42 to 0.60). Analyses confined to subjects with Parkinson's disease gave similar results. Conclusions The association of pesticide exposure with Parkinson's disease suggests a causative role. Repeated traumatic loss of consciousness is associated with increased risk. PMID:17332139

  16. Use of Multicriteria Risk Ranking of Zoonotic Diseases in a Developing Country: Case Study of Mongolia.

    PubMed

    McFadden, A M J; Muellner, P; Baljinnyam, Z; Vink, D; Wilson, N

    2016-03-01

    Many developing countries face significant health burdens associated with a high incidence of endemic zoonoses and difficulties in integrated control measures for both the human and animal populations. The objective of this study was to develop and apply a multicriteria ranking model for zoonoses in Mongolia, a country highly affected by zoonotic disease, to inform optimal resource allocation at the national level. Diseases were evaluated based on their impact on human health, livestock sector health and the wider society through affects on the economic value of livestock, as well as the feasibility of control in both the human and livestock population. Data on disease in Mongolia were collected from various government departments including the Mongolian State Central Laboratory, the Mongolian Department of Veterinary and Animal Breeding, the Mongolian Ministry of Health, Mongolian National Center for Communicable Diseases, the National Center for Zoonotic Disease and expert opinion from a workshop with a number of Mongolian Government officials and researchers. A combined score for both impact of the disease and feasibility of its control was calculated. Five zoonotic diseases were determined to be of high priority from this assessment (i.e. ovine brucellosis, echinococcosis (hydatids), rabies, anthrax and bovine brucellosis). The results supported some of the findings for high-priority diseases (namely brucellosis, rabies and anthrax) from a previous priority setting exercise carried out in Mongolia in 2011, but also identified and ranked additional animal diseases of public health importance. While the process of model development was largely Mongolian specific, the experience of developing and parameterizing this multicriteria ranking model could be replicated by other countries where zoonoses have substantive impacts on both animal and human health. PMID:26177028

  17. Characteristics of Pediatric Crohn's Disease in Saudi Children: A Multicenter National Study

    PubMed Central

    Saadah, Omar I.; El Mouzan, Mohammad; Al Mofarreh, Mohammad; Al Mehaidib, Ali; Al Edreesi, Mohammad; Hasosah, Mohammed; Al-Hussaini, Abdulrahman; AlSaleem, Khalid

    2016-01-01

    Background and Aims. Crohn's disease (CD) is an evolving disease in KSA. Little is known about its characteristics in the Saudi population. The aims of this study were to describe the characteristics of Saudi children with CD and to determine whether the characteristics of CD in KSA are different from those seen in Western countries. Methods. In this study, children younger than eighteen years of age diagnosed with CD between January 2003 and December 2012 were included. Results. Of 330 patients identified, 186 (56.4%) were males. The median age at diagnosis was 15.8 years. A positive family history for IBD in first-degree relatives occurred in 13.6% of patients. The most common symptoms were abdominal pain (84.2%), weight loss (75.2%), and diarrhea (71.8%). The main disease location was ileocolonic (42.1%) and the main disease behavior was nonstricturing and nonpenetrating (63.6%). Perianal involvement was seen in 60 (18.2%) patients. Laboratory findings revealed anemia in 57.9% of patients, low albumin in 34.5%, and high CRP in 39.4%. Conclusions. Saudi children with CD have lower frequency of first-degree relatives with IBD, lower prevalence of early onset disease, longer diagnostic delay, higher prevalence of growth failure, and greater frequency of stricturing and penetrating disease behavior compared to Western patients. PMID:26858752

  18. Genetically modified mouse models for the study of nonalcoholic fatty liver disease

    PubMed Central

    Nagarajan, Perumal; Mahesh Kumar, M Jerald; Venkatesan, Ramasamy; Majundar, Subeer S; Juyal, Ramesh C

    2012-01-01

    Nonalcoholic fatty liver disease (NAFLD) is associated with obesity, insulin resistance, and type 2 diabetes. NAFLD represents a large spectrum of diseases ranging from (1) fatty liver (hepatic steatosis); (2) steatosis with inflammation and necrosis; to (3) cirrhosis. The animal models to study NAFLD/nonalcoholic steatohepatitis (NASH) are extremely useful, as there are still many events to be elucidated in the pathology of NASH. The study of the established animal models has provided many clues in the pathogenesis of steatosis and steatohepatitis, but these remain incompletely understood. The different mouse models can be classified in two large groups. The first one includes genetically modified (transgenic or knockout) mice that spontaneously develop liver disease, and the second one includes mice that acquire the disease after dietary or pharmacological manipulation. Although the molecular mechanism leading to the development of hepatic steatosis in the pathogenesis of NAFLD is complex, genetically modified animal models may be a key for the treatment of NAFLD. Ideal animal models for NASH should closely resemble the pathological characteristics observed in humans. To date, no single animal model has encompassed the full spectrum of human disease progression, but they can imitate particular characteristics of human disease. Therefore, it is important that the researchers choose the appropriate animal model. This review discusses various genetically modified animal models developed and used in research on NAFLD. PMID:22468076

  19. [Retrospective study of foot and mouth disease in West Africa from 1970 to 2003].

    PubMed

    Couacy-Hymann, E; Aplogan, G L; Sangaré, O; Compaoré, Z; Karimu, J; Awoueme, K A; Seini, A; Martin, V; Valarcher, J F

    2006-12-01

    A retrospective study of foot and mouth disease in seven West African countries was conducted for the period 1970 to 2003. The study included three cattle-exporting Sahel countries (Burkina-Faso, Mali and Niger) and four cattle-importing coastal countries (Benin, Côte d'lvoire, Ghana and Togo). Foot and mouth disease has been enzootic in these countries since 1990/1991. Four of the seven serotypes are regularly notified (O, A, SAT 1 and SAT 2). In the seven countries as a whole, 198 biological samples from identified foot and mouth disease outbreaks confirmed the involvement of the following serotypes: O (62 outbreaks); A (32 outbreaks); SAT 1 (18 outbreaks); SAT 2 (86 outbreaks). This result, which is largely underestimated, clearly demonstrates the seriousness of foot and mouth disease in West Africa, whose livestock production system characterised by continual uncontrolled animal movements facilitates the spread of the disease. Unlike in Southern Africa, for foot and mouth disease to be controlled in West Africa it is necessary immediately to introduce a regional strategy involving all countries which takes into account the real situation in the field: transhumance, nomadism and live-animal imports by coastal countries. PMID:17361767

  20. Characteristics of Pediatric Crohn's Disease in Saudi Children: A Multicenter National Study.

    PubMed

    Saadah, Omar I; El Mouzan, Mohammad; Al Mofarreh, Mohammad; Al Mehaidib, Ali; Al Edreesi, Mohammad; Hasosah, Mohammed; Al-Hussaini, Abdulrahman; AlSaleem, Khalid

    2016-01-01

    Background and Aims. Crohn's disease (CD) is an evolving disease in KSA. Little is known about its characteristics in the Saudi population. The aims of this study were to describe the characteristics of Saudi children with CD and to determine whether the characteristics of CD in KSA are different from those seen in Western countries. Methods. In this study, children younger than eighteen years of age diagnosed with CD between January 2003 and December 2012 were included. Results. Of 330 patients identified, 186 (56.4%) were males. The median age at diagnosis was 15.8 years. A positive family history for IBD in first-degree relatives occurred in 13.6% of patients. The most common symptoms were abdominal pain (84.2%), weight loss (75.2%), and diarrhea (71.8%). The main disease location was ileocolonic (42.1%) and the main disease behavior was nonstricturing and nonpenetrating (63.6%). Perianal involvement was seen in 60 (18.2%) patients. Laboratory findings revealed anemia in 57.9% of patients, low albumin in 34.5%, and high CRP in 39.4%. Conclusions. Saudi children with CD have lower frequency of first-degree relatives with IBD, lower prevalence of early onset disease, longer diagnostic delay, higher prevalence of growth failure, and greater frequency of stricturing and penetrating disease behavior compared to Western patients. PMID:26858752

  1. Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases.

    PubMed

    Forloni, Gianluigi; Tettamanti, Mauro; Lucca, Ugo; Albanese, Yasmin; Quaglio, Elena; Chiesa, Roberto; Erbetta, Alessandra; Villani, Flavio; Redaelli, Veronica; Tagliavini, Fabrizio; Artuso, Vladimiro; Roiter, Ignazio

    2015-01-01

    The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients. PMID:25996399

  2. Nonhuman primate models used to study pelvic inflammatory disease caused by Chlamydia trachomatis.

    PubMed

    Bell, Jason D; Bergin, Ingrid L; Schmidt, Kelsey; Zochowski, Melissa K; Aronoff, David M; Patton, Dorothy L

    2011-01-01

    Pelvic inflammatory disease (PID) is a global health concern that is associated with significant morbidity and is a major cause of infertility. Throughout history animals have been used for anatomical studies and later as models of human disease. In particular, nonhuman primates (NHPs) have permitted investigations of human disease in a biologically, physiologically, and anatomically similar system. The use of NHPs as human PID models has led to a greater understanding of the primary microorganisms that cause disease (e.g., Chlamydia trachomatis and Neisseria gonorroheae), the pathogenesis of infection and its complications, and the treatment of people with PID. This paper explores historical and contemporary aspects of NHP modeling of chlamydial PID, with an emphasis on advantages and limitations of this approach and future directions for this research. PMID:21869858

  3. Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases

    PubMed Central

    Forloni, Gianluigi; Tettamanti, Mauro; Lucca, Ugo; Albanese, Yasmin; Quaglio, Elena; Chiesa, Roberto; Erbetta, Alessandra; Villani, Flavio; Redaelli, Veronica; Tagliavini, Fabrizio; Artuso, Vladimiro; Roiter, Ignazio

    2015-01-01

    Abstract The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients. PMID:25996399

  4. Dietary patterns are associated with disease risk among participants in the women's health initiative observational study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Coronary heart disease (CHD) is the leading cause of death in women. A nested case-control study tested whether dietary patterns predicted CHD events among 1224 participants in the Women’s Health Initiative-Observational Study (WHI-OS) with centrally confirmed CHD, fatal or nonfatal myocardial infar...

  5. Cognition and Incident Coronary Heart Disease in Late Midlife: The Whitehall II Study

    ERIC Educational Resources Information Center

    Singh-Manoux, Archana; Sabia, Severine; Kivimaki, Mika; Shipley, Martin J.; Ferrie, Jane E.; Marmot, Michael G.

    2009-01-01

    The purpose of this study was to investigate whether cognitive function in midlife predicts incident coronary heart disease (CHD), followed up over 6 years. Data on 5292 (28% women, mean age 55) individuals free from CHD at baseline were drawn from the British Whitehall II study. We used Cox regression to model the association between cognition…

  6. Treatment of Depression and Anxiety in Parkinson's Disease: A Pilot Study Using Group Cognitive Behavioural Therapy

    ERIC Educational Resources Information Center

    Feeney, Farah; Egan, Sarah; Gasson, Natalie

    2005-01-01

    Depression and anxiety affect up to 50% of people with Parkinson's Disease (PD) (Marsh, 2000; Murray, 1996), however, few studies have examined the effectiveness of psychological treatment. This study examined the effectiveness of group cognitive behaviour therapy (CBT) in treating depression and anxiety in PD. Four participants, aged between 56…

  7. Red blood cell MUFAs and risk of coronary artery disease in the Physicians’ Health Study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Previous studies have reported beneficial effects of a Mediterranean diet rich in monounsaturated fatty acids (MUFAs) on coronary artery disease (CAD) risk. However, these findings remain inconsistent because some experimental studies have suggested atherogenic and lipotoxicity effects of long-chain...

  8. Variability in Fundamental Frequency during Speech in Prodromal and Incipient Parkinson's Disease: A Longitudinal Case Study

    ERIC Educational Resources Information Center

    Harel, Brian; Cannizzaro, Michael; Snyder, Peter J.

    2004-01-01

    Nearly two centuries ago, Parkinson (1817) first observed that a particular pattern of speech changes occur in patients with idiopathic Parkinson's disease (PD). Numerous studies have documented these changes using a wide variety of acoustic measures, and yet few studies have attempted to quantify any such changes longitudinally, through the early…

  9. Subthalamic Nucleus Stimulation and Dysarthria in Parkinson's Disease: A PET Study

    ERIC Educational Resources Information Center

    Pinto, Serge; Thobois, Stephane; Costes, Nicolas; Le Bars, Didier; Benabid, Alim-Louis; Broussolle, Emmanuel; Pollak, Pierre; Gentil, Michele

    2004-01-01

    In Parkinson's disease, functional imaging studies during limb motor tasks reveal cerebral activation abnormalities that can be reversed by subthalamic nucleus (STN) stimulation. The effect of STN stimulation on parkinsonian dysarthria has not, however, been investigated using PET. The aim of the present study was to evaluate the effect of STN…

  10. SHPPS 2006: School Health Policies and Programs Study--Sexually Transmitted Disease (STD) Prevention

    ERIC Educational Resources Information Center

    Centers for Disease Control and Prevention, 2007

    2007-01-01

    The School Health Policies and Programs Study (SHPPS) is a national survey periodically conducted to assess school health policies and programs at the state, district, school, and classroom levels. This brief reports study results in the area of sexually transmitted disease (STD) prevention, covering the following topics (1) Health Education; and…

  11. 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. PMID:26931181

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

    PubMed Central

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

    2013-01-01

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

  13. HepatoProteomics: Applying Proteomic Technologies to the Study of Liver Function and Disease

    SciTech Connect

    Diamond, Deborah L.; Proll, Sean; Jacobs, Jon M.; Chan, Eric Y.; Camp, David G.; Smith, Richard D.; Katze, Michael G.

    2006-08-01

    The wealth of human genome sequence information now available, coupled with technological advances in robotics, nanotechnology, mass spectrometry, and information systems, has given rise to a method of scientific inquiry known as functional genomics. By using these technologies to survey gene expression and protein production on a near global scale, the goal of functional genomics is to assign biological function to genes with currently unknown roles in physiology. This approach carries particular appeal in disease research, where it can uncover the function of previously unknown genes and molecular pathways that are directly involved in disease progression. With this knowledge may come improved diagnostic techniques, prognostic capabilities, and novel therapeutic approaches. In this regard, the continuing evolution of proteomic technologies has resulted in an increasingly greater impact of proteome studies in many areas of research and hepatology is no exception. Our laboratory has been extremely active in this area, applying both genomic and proteomic technologies to the analysis of virus-host interactions in several systems, including the study of hepatitis C virus (HCV) infection and HCV-associated liver disease. Since proteomic technologies are foreign to many hepatologists (and to almost everyone else), this article will provide an overview of proteomic methods and technologies and describe how they're being used to study liver function and disease. We use our studies of HCV infection and HCV-associated liver disease to present an operational framework for performing high throughput proteome analysis and extracting biologically meaningful information.

  14. Well-Being and Chronic Disease Incidence: The English Longitudinal Study of Ageing

    PubMed Central

    Okely, Judith A.; Gale, Catharine R.

    2016-01-01

    ABSTRACT Background Previous research suggests that greater well-being may protect against onset of chronic disease. However, it is unclear whether this association is similar across different types of disease. Method We used Cox proportional hazards regression to examine the prospective relationship between well-being (measured using the CASP-19 quality of life questionnaire) and incidence of arthritis, cancer, stroke, diabetes, myocardial infarction, and chronic lung disease over 8 years. The sample consisted of 8182 participants 50 years or older from the English Longitudinal Study of Ageing. Results After adjustments for established risk factors, a standard deviation increase in CASP-19 score was associated with a decrease in arthritis risk (hazard ratio [HR] = 0.89, 95% confidence interval [CI] = 0.83–0.96) and, in those younger than 65 years, a decrease in diabetes risk (HR = 0.82, 95% CI = 0.70–0.95) and chronic lung disease risk (HR = 0.80, 95% CI = 0.66–0.97). Higher CASP-19 scores were associated with reduced risk for stroke and myocardial infarction; however, these associations were no longer significant after adjustments for established risk factors. No association was observed for cancer incidence. An age interaction was observed for diabetes, myocardial infarction, and chronic lung disease, with a stronger association between CASP-19 score and disease incidence at younger ages. Conclusions The extent of association between well-being and incident disease risk is not consistent across different chronic diseases. Future studies should examine the cause of this variation. PMID:26569542

  15. Low job control and risk of coronary heart disease in Whitehall II (prospective cohort) study.

    PubMed Central

    Bosma, H.; Marmot, M. G.; Hemingway, H.; Nicholson, A. C.; Brunner, E.; Stansfeld, S. A.

    1997-01-01

    OBJECTIVE: To determine the association between adverse psychosocial characteristics at work and risk of coronary heart disease among male and female civil servants. DESIGN: Prospective cohort study (Whitehall II study). At the baseline examination (1985-8) and twice during follow up a self report questionnaire provided information on psychosocial factors of the work environment and coronary heart disease. Independent assessments of the work environment were obtained from personnel managers at baseline. Mean length of follow up was 5.3 years. SETTING: London based office staff in 20 civil service departments. SUBJECTS: 10,308 civil servants aged 35-55 were examined-6895 men (67%) and 3413 women (33%). MAIN OUTCOME MEASURES: New cases of angina (Rose questionnaire), severe pain across the chest, diagnosed ischaemic heart disease, and any coronary event. RESULTS: Men and women with low job control, either self reported or independently assessed, had a higher risk of newly reported coronary heart disease during follow up. Job control assessed on two occasions three years apart, although intercorrelated, had cumulative effects on newly reported disease. Subjects with low job control on both occasions had an odds ratio for any subsequent coronary event of 1.93 (95% confidence interval 1.34 to 2.77) compared with subjects with high job control at both occasions. This association could not be explained by employment grade, negative affectivity, or classic coronary risk factors. Job demands and social support at work were not related to the risk of coronary heart disease. CONCLUSIONS: Low control in the work environment is associated with an increased risk of future coronary heart disease among men and women employed in government offices. The cumulative effect of low job control assessed on two occasions indicates that giving employees more variety in tasks and a stronger say in decisions about work may decrease the risk of coronary heart disease. PMID:9055714

  16. The Framingham Heart Study: impact on the prevention and control of cardiovascular diseases in India.

    PubMed

    Reddy, Kolli Srinath; Satija, Ambika

    2010-01-01

    India is in the middle of the epidemiological transition, with the burden of disease shifting towards chronic conditions, of which cardiovascular diseases (CVDs) form a major part. Findings from the Framingham Heart Study (FHS) have tremendous potential to circumvent the projected increase in CVD burden in India, as they highlight the importance of measuring risk in individuals and populations, and preventing future onset of disease. The findings of the FHS have stimulated several cross-sectional studies in India documenting a high and increasing burden of CVD risk factors. These have led to policy level changes in the country, in the form of Framework Convention on Tobacco Control ratification, and the National Program on Diabetes, CVD, and Stroke. There is now need for an Indian cohort study on the lines of the FHS, which can more closely evaluate the use of the FHS risk score among Indians and translate FHS findings into the Indian context. PMID:20620422

  17. Migraine and risk of cardiovascular disease in women: prospective cohort study

    PubMed Central

    Winter, Anke C; Eliassen, A Heather; Dushkes, Rimma; Mukamal, Kenneth J; Rimm, Eric B; Willett, Walter C; Manson, JoAnn E; Rexrode, Kathryn M

    2016-01-01

    Objective To evaluate the association between migraine and incident cardiovascular disease and cardiovascular mortality in women. Design Prospective cohort study among Nurses’ Health Study II participants, with follow-up from 1989 and through June 2011. Setting Cohort of female nurses in United States. Participants 115 541 women aged 25-42 years at baseline and free of angina and cardiovascular disease. Cumulative follow-up rates were more than 90%. Main outcome measures The primary outcome of the study was major cardiovascular disease, a combined endpoint of myocardial infarction, stroke, or fatal cardiovascular disease. Secondary outcome measures included individual endpoints of myocardial infarction, stroke, angina/coronary revascularization procedures, and cardiovascular mortality. Results 17 531 (15.2%) women reported a physician’s diagnosis of migraine. Over 20 years of follow-up, 1329 major cardiovascular disease events occurred and 223 women died from cardiovascular disease. After adjustment for potential confounding factors, migraine was associated with an increased risk for major cardiovascular disease (hazard ratio 1.50, 95% confidence interval 1.33 to 1.69), myocardial infarction (1.39, 1.18 to 1.64), stroke (1.62, 1.37 to 1.92), and angina/coronary revascularization procedures (1.73, 1.29 to 2.32), compared with women without migraine. Furthermore, migraine was associated with a significantly increased risk for cardiovascular disease mortality (hazard ratio 1.37, 1.02 to 1.83). Associations were similar across subgroups of women, including by age (<50/≥50), smoking status (current/past/never), hypertension (yes/no), postmenopausal hormone therapy (current/not current), and oral contraceptive use (current/not current). Conclusions Results of this large, prospective cohort study in women with more than 20 years of follow-up indicate a consistent link between migraine and cardiovascular disease events, including cardiovascular mortality

  18. Studies on periodontitis and analyses of individuals at risk for periodontal diseases.

    PubMed

    Jansson, Henrik

    2006-01-01

    Periodontal disease is an infectious disease initiated by microbial plaque, which accumulates on the tooth surface at the gingival margin and induces an inflammatory reaction. The function of the inflammatory process is to protect the host, however the process may also contribute to tissue destruction. Most individuals show gingival inflammation, but only a limited number suffer from periodontitis i.e. loss of attachment. Without treatment, periodontitis will result in tooth mobility and subsequent tooth mortality. Independent of ethnicity, 10%-15% of an adult population will develop severe periodontitis The aim of this thesis has been to analyse individuals at risk for periodontal disease. Four studies have been conducted in 2 different groups of individuals with: Recurrent periodontitis kept in a maintenance care program--studies I-III. Type 2 diabetes (T2D)--study IV. In study I, the clinicaleffect of local periodontitis treatment with an antibiotic gel was investigated. In study II, the microbiologicaleffect of periodontitis treatment with the same antibiotic gel as in study I was investigated. In study III, it was investigated whether the interleukin-l (IL-1alpha and beta) and interleukin-6 (IL-6) gene polymorphisms were associated with the susceptibility of chronic periodontitis. In study IV, the prevalence of periodontitis in individuals with T2D was investigated, together with the prevalence of diabetic complications in relation to periodontal disease. We also studied whether there was a difference in dental care habits and knowledge of oral health between T2D subjects with and without periodontal disease. In conclusion, this thesis did not find any significant clinical and microbiological differences between subjects with recurrent periodontal disease treated with a locally delivered metronidazole gel compared to a placebo gel. Neither could we find an association between genetic variants in the IL-lalpha, IL-beta and IL-6 genes in individuals with or

  19. The association between dental and periodontal diseases and sickle cell disease. A pilot case-control study

    PubMed Central

    Al-Alawi, Haidar; Al-Jawad, Abdulfatah; Al-Shayeb, Mahdi; Al-Ali, Ali; Al-Khalifa, Khalifa

    2014-01-01

    Objective This is a pilot case-control study conducted to investigate the prevalence of dental caries and periodontal disease and examine the possible association between oral health deterioration and SCD severity in a sample of Saudi SCD patients residing in the city of Al-Qatif, Eastern Province, Saudi Arabia. Materials and methods Dental examination to determine the Decayed, Missing and Filled Teeth index (DMFT), Community Periodontal Index (CPI), and plaque index system were recorded for 33 SCD patients and 33 age and sex-matched controls in the Al-Qatif Central Hospital, Qatif, Saudi Arabia. Self-administered surveys used to assess socio-economic status; oral health behaviors for both SCD patients and controls were recorded. In addition, the disease severity index was established for all patients with SCD. SPSS data analysis software package version 18.0 was used for statistical analysis. Numerical variables were described as mean with a standard deviation. Results Decayed teeth were significantly more in individuals with ages ranging from 18 to 38 years with SCD compared to the control group (p = 0.036) due to oral hygiene negligence. The mean number of filled teeth was significantly lower in individuals with SCD when compared to the control group (p = 0.015) due to the lack of appropriate and timely treatment reflected in the survey responses of SCD patients as 15.2% only taking oral care during hospitalization. There were differences between the cases and controls in the known caries risk factors such as income level, flossing, and brushing habit. The DMFT, CPI, and plaque index systems did not differ significantly between the SCD patients and the control group. Conclusion Data suggest that patients with SCD have increased susceptibility to dental caries, with a higher prevalence of tooth decay and lower prevalence of filled teeth. Known caries risk factors influenced oral health more markedly than did factors related to SCD. PMID:25544813

  20. Occupational risk factors and Alzheimer's disease: a case-control study

    SciTech Connect

    Shalat, S.L.; Seltzer, B.; Baker, E.L. Jr.

    1988-12-01

    A case-control study was conducted to assess occupational exposure to organic solvents and lead as risk factors for Alzheimer's disease. All case subjects were diagnosed at a Veterans Administration Hospital in Bedford, Massachusetts. Control subjects were selected from Massachusetts voter registration lists and matched by sex, year of birth, and town of residence. Information on occupational history was assessed by mailed questionnaire sent to the spouse or next of kin of the study subject. A total of 98 case and 162 control subjects were included in the matched analysis. No apparent association of increased risk of Alzheimer's disease was observed for ever having occupational exposure to organic solvents or lead.

  1. Lymphocyte-predominant Hodgkin's disease. An immunohistochemical analysis of 208 reviewed Hodgkin's disease cases from the German Hodgkin Study Group.

    PubMed Central

    von Wasielewski, R.; Werner, M.; Fischer, R.; Hansmann, M. L.; Hübner, K.; Hasenclever, D.; Franklin, J.; Sextro, M.; Diehl, V.; Georgii, A.

    1997-01-01

    There is wide consensus that lymphocyte predominance Hodgkin's disease (LPHD) represents a distinct clinicopathological entity of B-cell origin. However, inconsistent results of immunophenotyping studies and low confirmation rates among multi-center trials pose the question of whether LPHD really expresses heterogeneous marker profiles or whether it represents a mixture of morphologically similar entities. Among 2,836 cases reviewed by the German Hodgkin Study Group, immunophenotyping was performed on 1) cases classified or confirmed as LPHD by the reference panel (n = 104) or 2) cases not confirmed as LPHD but classified as classical HD (cHD) within the reference study trial (n = 104). In most cases, immunohistochemistry revealed a phenotype either LPHD-like (CD20+, CD15-, CD30-, CD45+) or cHD-like (CD15+, CD30+, CD20-, CD45-). In 27 cases, the immunophenotype was not fully conclusive. Additional markers for Epstein-Barr virus and CD57 and in situ hybridization for mRNA light chains allowed for a more clear-cut distinction between LPHD and cHD. However, in 25 of 104 cases, immunohistochemistry disproved the morphological diagnosis of LPHD of the panel experts, whereas 13 cases originally not confirmed as LPHD showed a LPHD-like immunopattern. Immunohistochemically confirmed LPHD cases showed a significantly better freedom from treatment failure (P = 0.033) than cHD; this was not observed in the original study classification based only on morphology (P > 0.05). Significantly better survival for LPHD cases improved from P = 0.047 (original study classification) to P = 0.0071 when classified by immunohistochemistry. Our results show that LPHD is a more immunohistochemical rather than a purely morphological diagnosis. Immunophenotyping of HD biopsies suspected of being LPHD is mandatory when a modified therapy protocol, that is, one different from those used in cHD, is discussed. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:9060817

  2. A content validity study of signs, symptoms and diseases/health problems expressed in LIBRAS1

    PubMed Central

    Aragão, Jamilly da Silva; de França, Inacia Sátiro Xavier; Coura, Alexsandro Silva; de Sousa, Francisco Stélio; Batista, Joana D'arc Lyra; Magalhães, Isabella Medeiros de Oliveira

    2015-01-01

    Objectives: to validate the content of signs, symptoms and diseases/health problems expressed in LIBRAS for people with deafness Method: methodological development study, which involved 36 people with deafness and three LIBRAS specialists. The study was conducted in three stages: investigation of the signs, symptoms and diseases/health problems, referred to by people with deafness, reported in a questionnaire; video recordings of how people with deafness express, through LIBRA, the signs, symptoms and diseases/health problems; and validation of the contents of the recordings of the expressions by LIBRAS specialists. Data were processed in a spreadsheet and analyzed using univariate tables, with absolute frequencies and percentages. The validation results were analyzed using the Content Validity Index (CVI). Results: 33 expressions in LIBRAS, of signs, symptoms and diseases/health problems were evaluated, and 28 expressions obtained a satisfactory CVI (1.00). Conclusions: the signs, symptoms and diseases/health problems expressed in LIBRAS presented validity, in the study region, for health professionals, especially nurses, for use in the clinical anamnesis of the nursing consultation for people with deafness. PMID:26625991

  3. Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study.

    PubMed

    Elenga, Narcisse; Adeline, Aurélie; Balcaen, John; Vaz, Tania; Calvez, Mélanie; Terraz, Anne; Accrombessi, Laetitia; Carles, Gabriel

    2016-01-01

    Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. This study aimed to describe the follow-up of pregnancies among sickle cell disease patients in Cayenne Hospital, in order to highlight the most reported complications. 62 records of pregnancies were analyzed among 44 females with sickle cell disease, between 2007 and 2013. Our results were compared to those of studies conducted in Brazil and Guadeloupe. There were 61 monofetal pregnancies and 2 twin pregnancies, 27 pregnancies among women with SS phenotype, 30 SC pregnancies, and five S-beta pregnancies. The study showed that the follow-up of patients was variable, but no maternal death was found. We also noted that the main maternofetal complications of pregnancies were anemia (36.5%), infection (31.7%), vasoocclusive crisis (20.6%), preeclampsia (17.5%), premature birth (11.1%), intrauterine growth retardation (15.9%), abnormal fetal heart rate (14.3%), and intrauterine fetal death (4.8%). Pregnancies were more at risk among women with SS phenotype. Pregnancy in sickle cell disease patients requires a supported multidisciplinary team including the primary care physician, the obstetrician, and the Integrated Center for Sickle Cell Disease. PMID:27403164

  4. Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study

    PubMed Central

    Elenga, Narcisse; Adeline, Aurélie; Balcaen, John; Vaz, Tania; Calvez, Mélanie; Terraz, Anne; Accrombessi, Laetitia; Carles, Gabriel

    2016-01-01

    Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. This study aimed to describe the follow-up of pregnancies among sickle cell disease patients in Cayenne Hospital, in order to highlight the most reported complications. 62 records of pregnancies were analyzed among 44 females with sickle cell disease, between 2007 and 2013. Our results were compared to those of studies conducted in Brazil and Guadeloupe. There were 61 monofetal pregnancies and 2 twin pregnancies, 27 pregnancies among women with SS phenotype, 30 SC pregnancies, and five S-beta pregnancies. The study showed that the follow-up of patients was variable, but no maternal death was found. We also noted that the main maternofetal complications of pregnancies were anemia (36.5%), infection (31.7%), vasoocclusive crisis (20.6%), preeclampsia (17.5%), premature birth (11.1%), intrauterine growth retardation (15.9%), abnormal fetal heart rate (14.3%), and intrauterine fetal death (4.8%). Pregnancies were more at risk among women with SS phenotype. Pregnancy in sickle cell disease patients requires a supported multidisciplinary team including the primary care physician, the obstetrician, and the Integrated Center for Sickle Cell Disease. PMID:27403164

  5. Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.

    PubMed Central

    1993-01-01

    An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data on linked DNA markers, from four major testing centres in different European Community countries (Belgium, Italy, Netherlands, and United Kingdom). Information was available on 603 applicants, with 213 final results given, of which 32% gave an increased risk. A series of specific issues and problems were documented systematically for all applicants, results being given on frequency of occurrence and illustrated by individual case histories. The principal issues could be grouped as problems of inappropriate referral, problems involving relatives, and problems relating to disclosure of results. At least one important problem was encountered in 46% of applicants, emphasising the importance of expert counselling, preparation, and support of applicants, and of close liaison between clinical, counselling, and laboratory staff. The extensive and detailed information available for Huntington's disease from this and other studies will be of considerable value in relation to genetic testing for other late onset genetic disorders and will be even more relevant to Huntington's disease now that specific mutation analysis is possible for this disorder. PMID:8133502

  6. Epidemiological studies in incidence, prevalence, mortality, and comorbidity of the rheumatic diseases

    PubMed Central

    Gabriel, Sherine E; Michaud, Kaleb

    2009-01-01

    Epidemiology is the study of the distribution and determinants of disease in human populations. Over the past decade there has been considerable progress in our understanding of the fundamental descriptive epidemiology (levels of disease frequency: incidence and prevalence, comorbidity, mortality, trends over time, geographic distributions, and clinical characteristics) of the rheumatic diseases. This progress is reviewed for the following major rheumatic diseases: rheumatoid arthritis (RA), juvenile rheumatoid arthritis, psoriatic arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, polymyalgia rheumatica, gout, Sjögren's syndrome, and ankylosing spondylitis. These findings demonstrate the dynamic nature of the incidence and prevalence of these conditions – a reflection of the impact of genetic and environmental factors. The past decade has also brought new insights regarding the comorbidity associated with rheumatic diseases. Strong evidence now shows that persons with RA are at a high risk for developing several comorbid disorders, that these conditions may have atypical features and thus may be difficult to diagnose, and that persons with RA experience poorer outcomes after comorbidity compared with the general population. Taken together, these findings underscore the complexity of the rheumatic diseases and highlight the key role of epidemiological research in understanding these intriguing conditions. PMID:19519924

  7. Effects of passive smoking on ischemic heart disease mortality of nonsmokers. A prospective study

    SciTech Connect

    Garland, C.; Barrett-Connor, E.; Suarez, L.; Criqui, M.H.; Wingard, D.L.

    1985-05-01

    The mortality attributable to ischemic heart disease as a result of cigarette smoking is greater of a community of older adults in southern California, the authors tested the hypothesis that nonsmoking women exposed to their husband's cigarette smoke would have an elevated risk of fatal ischemic heart disease. Married women aged 50-79 years who had never smoked cigarettes (n = 695) were classified according to the husband's self-reported smoking status at entry into the study: never, former, or current smoker. After 10 years, nonsmoking wives of current or former cigarette smokers had a higher total (p less than or equal to 0.05) and age-adjusted (p less than or equal to 0.10) death rate from ischemic heart disease than women whose husbands never smoked. After adjustment for differences in risk factors for heart disease, the relative risk for death from ischemic heart disease in nonsmoking women married to current or former cigarette smokers was 14.9 (p less than or equal to 0.10). These data are compatible with the hypothesis that passive cigarette smoking carries an excess risk of fatal ischemic heart disease.

  8. European Non-Communicable Respiratory Disease Research, 2002-13: Bibliometric Study of Outputs and Funding

    PubMed Central

    Wright, John S. F.; Pallari, Elena; Sullivan, Richard

    2016-01-01

    This study was conducted in order to map European research in chronic respiratory diseases (CRDs). It was intended to assist the European Commission and other research funders to identify gaps and overlaps in their portfolios, and to suggest ways in which they could improve the effectiveness of their support and increase the impact of the research on patient care and on the reduction of the incidence of the CRDs. Articles and reviews were identified in the Web of Science on research in six non-communicable respiratory diseases that were published in 2002–13 from 31 European countries. They represented only 0.8% of biomedical research output but these diseases accounted for 4.7% of the European disease burden, as measured by Disability-Adjusted Life Years (DALYs), so the sub-field is seriously under-researched. Europe is prominent in the sub-field and published 56% of the world total, with the UK the most productive and publishing more than France and Italy, the next two countries, combined. Asthma and Chronic Obstructive Pulmonary Disease (COPD) were the diseases with the most publications and the highest citation rates. They also received the most funding, with around two acknowledgments per paper (in 2009–13), whereas cystic fibrosis and emphysema averaged only one. Just over 37% of papers had no specific funding and depended on institutional support from universities and hospitals. PMID:27111670

  9. Risk of cardiovascular disease? A qualitative study of risk interpretation among patients with high cholesterol

    PubMed Central

    2013-01-01

    Background Previous studies have shown the importance of paying attention to lay peoples’ interpretations of risk of disease, in order to explain health-related behavior. However, risk interpretations interplay with social context in complex ways. The objective was to explore how asymptomatic patients with high cholesterol interpret risk of cardiovascular disease. Methods Fourteen patients with high cholesterol and risk of cardiovascular disease were interviewed, and patterns across patient accounts were identified and analysed from an ethnographic approach. Results Information from the general practitioner about high cholesterol and risk of cardiovascular disease was reinterpreted in everyday social life. The risk associated with fatty foods was weighed against the pleasures of social and cultural events in which this type of food was common and cherished. A positive mindset was applied as a strategy to lower the risk of having high cholesterol, but knowledge about risk was viewed as a cause of anxiety and self-absorption, and this anxiety made the body susceptible to disease, hampering the chances for healthy life. Conclusion Interpretations of high cholesterol and risk of cardiovascular disease are embedded in social relations and everyday life concerns. This should be addressed in general practice in preference-sensitive cases about risk-reducing medication. Trial registration ClinicalTrials.gov: NCT01187056 PMID:24040920

  10. European Non-Communicable Respiratory Disease Research, 2002-13: Bibliometric Study of Outputs and Funding.

    PubMed

    Begum, Mursheda; Lewison, Grant; Wright, John S F; Pallari, Elena; Sullivan, Richard

    2016-01-01

    This study was conducted in order to map European research in chronic respiratory diseases (CRDs). It was intended to assist the European Commission and other research funders to identify gaps and overlaps in their portfolios, and to suggest ways in which they could improve the effectiveness of their support and increase the impact of the research on patient care and on the reduction of the incidence of the CRDs. Articles and reviews were identified in the Web of Science on research in six non-communicable respiratory diseases that were published in 2002-13 from 31 European countries. They represented only 0.8% of biomedical research output but these diseases accounted for 4.7% of the European disease burden, as measured by Disability-Adjusted Life Years (DALYs), so the sub-field is seriously under-researched. Europe is prominent in the sub-field and published 56% of the world total, with the UK the most productive and publishing more than France and Italy, the next two countries, combined. Asthma and Chronic Obstructive Pulmonary Disease (COPD) were the diseases with the most publications and the highest citation rates. They also received the most funding, with around two acknowledgments per paper (in 2009-13), whereas cystic fibrosis and emphysema averaged only one. Just over 37% of papers had no specific funding and depended on institutional support from universities and hospitals. PMID:27111670

  11. Treatment of anal human papillomavirus-associated disease: a long term outcome study.

    PubMed

    Nathan, M; Hickey, N; Mayuranathan, L; Vowler, S L; Singh, N

    2008-07-01

    Treatment for human papillomavirus (HPV)-associated anal canal disease has been unsatisfactory. The objective of our study was to determine the treatment outcome in our cohort with anal HPV disease. Overall, 181 patients were evaluated over a median period of 19.1 months (range = 2.8-125.5). Eighty-eight patients (48.6%) with high-grade anal intraepithelial neoplasia (AIN) and 82 patients (45.3%) with low-grade AIN underwent treatment. One hundred and forty-one patients (77.9%) received laser ablative treatment as an outpatient procedure. The treatment yielded cure, defined as a disease-free state at 12 months after treatment, in 63.0% (114/181). Median time to cure for the cohort was 31.5 months (95% confidence interval: 23.0-40.0). Treatment outcome showed no evidence of being affected by age, sexual preference, history of smoking or presence of high-grade disease. Median time to cure was significantly affected by a positive HIV status (P = 0.02) and the extent (volume) of the disease (P = 0.01). Contrary to the current view that treatment of HPV-related anal disease is difficult, unrewarding due to recurrences and may lead to substantial morbidity, we demonstrate that effective treatment is possible for both low- and high-grade AIN. These findings should help with the general desire to introduce screening for AIN for at-risk groups. PMID:18574114

  12. Measuring the Environmental Burden of Disease in South Korea: A Population-Based Study

    PubMed Central

    Yoon, Seok-Jun; Kim, Hyeong-Su; Ha, Jongsik; Kim, Eun-Jung

    2015-01-01

    Background: This study attempted to measure the environmental burden of disease by examining mortality and disability rates in South Korea, permitting international comparisons. Methods: Disability-adjusted life years (DALY) was used to analyze data from public records. Years of life lost (YLL) and years lost to disability (YLD) were measured in terms of incidence rate and number of deaths. Attributable risks were based on those for WHO Western Pacific Regions. For air pollution, attributable risk was calculated using local PM10 levels and relative risk. Results: The total Korean environmental burden of disease was 17.98 per 1000 persons and the most serious risk factor was air pollution, at 6.89per1000 persons. Occupation was the second highest contributing factor, at 3.29 per 1000 persons, followed by indoor air pollution at 2.91 per 1000 persons. The DALY of air-pollution (indoor and outdoor) was 9.80 per 1000 persons, accounting for more than half of the total environmental burden of disease. The burden of chronic obstructive pulmonary disease, lung cancer, and asthma were 4.07, 3.16, and 1.96 per 1000 persons, respectively. Conclusions: Respiratory illnesses comprised most of the disease burden, the majority of which was linked to air pollution. The present results are important as they could be used to make evidence-based decisions regarding the management of diseases and environmental-risk factors. PMID:26184265

  13. The Model Repository (MREP) of the Models of Infectious Disease Agent Study (MIDAS)

    PubMed Central

    Cooley, Phillip C.; Roberts, D.; Bakalov, V. D.; Bikmal, S.; Cantor, S.; Costandine, T.; Ganapathi, L.; Golla, B. J.; Grubbs, G.; Hollingsworth, C.; Li, S.; Qin, Y.; Savage, B.; Simoni, D.; Solano, E.; Wagener, D.

    2009-01-01

    The model repository (MREP) is a relational database management system (RDBMS) developed under the auspices of the Models of Infectious Disease Agent Study (MIDAS. The purpose of the MREP is to organize and catalog the models, results, and suggestions for using MIDAS and to store them in a way to allow users to run models from an access-controlled disease model repository. The model repository contains source and object code of disease models developed by infectious disease modelers and tested in a production environment. Different versions of models used to describe various aspects of the same disease are housed in the repository. Models are linked to their developers and different versions of the codes are tied to Subversion, a version control tool. An additional element of the MREP will be to house, manage, and control access to a disease model results warehouse, which consists of output generated by the models contained in the MREP. The results tables and files are linked to the version of the model and the input parameters that collectively generated the results. The results tables are warehoused in a relational database that permits them to be easily identified, categorized, and downloaded. PMID:18632331

  14. Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.

    PubMed

    Cuyvers, Elise; Sleegers, Kristel

    2016-07-01

    With the advent of genome-wide association studies (GWAS) and next-generation sequencing, more than 20 risk loci that affect Alzheimer's disease have been identified. These loci are estimated to explain about 28% of the heritability of liability, 30% of familial risk, and over 50% of sibling recurrence risk of developing Alzheimer's disease. These estimates are high in comparison with those for other complex diseases for which more risk loci have been discovered, such as type 2 diabetes, which is mostly a result of the strong effect of APOE ɛ4 and to a lesser extent the rare variant TREM2 p.Arg47His. The search for functionally relevant genetic variants in risk loci detected in GWAS has revealed that the genetic variations underlying Alzheimer's disease include common variants affecting expression and splicing, a functional intragenic copy number variation, and rare pathogenic variants in risk loci, some of which might lead to familial Alzheimer's disease. An understanding of the contribution of these variants to the development of Alzheimer's disease has several clinical implications, including enhancing diagnostic accuracy and providing targets for the development of novel treatments. PMID:27302364

  15. Elevated oxidative stress among coronary artery disease patients on statin therapy: A cross sectional study

    PubMed Central

    Palazhy, Sabitha; Kamath, Prakash; Vasudevan, Damodaran M.

    2015-01-01

    Background Statins are a major group of drugs that reduces LDL-C levels, which are proven to have other beneficial effects such as preventing coronary events. The objective of this study was to evaluate oxidative stress and select novel coronary artery disease risk factors among coronary artery disease patients on statins. Methods In this observational, cross-sectional study, we compared total cholesterol, triglycerides, HDL-cholesterol, LDL-cholesterol, apolipoprotein B, lipoprotein (a), homocysteine, reduced glutathione, glutathione peroxidase, superoxide dismutase, ascorbic acid, malondialdehyde and oxidized LDL among male coronary artery disease patients on statin therapy (group 2, n = 151) with sex-matched, diabetic patients (group 3, n = 80) as well as healthy controls (group 1, n = 84). Results Total cholesterol, triglycerides, HDL-cholesterol and LDL-cholesterol were significantly lower among subjects of group 2 compared to other two groups. The novel risk factors studied did not differ significantly between groups, except for a higher homocysteine level among group 2 subjects compared to the other two groups. Elevated oxidative stress, indicated by lower reduced glutathione, glutathione peroxidase, and ascorbic acid as well as higher malondialdehyde and oxidized LDL was observed among group 2 subjects. Triglycerides, HDL-cholesterol, ascorbic acid and malondialdehyde were found to be independent predictors for coronary artery disease among this study population. Conclusions Though coronary artery disease subjects had healthy lipid profile, oxidative stress, a recognized risk factor for coronary events, was still elevated among this patient group. Novel risk factors were not found to be major predictors for coronary artery disease among the study subjects. PMID:26138179

  16. Association of Postmenopausal Osteoporosis and Periodontal Disease: A Double-Blind Case-Control Study

    PubMed Central

    Juluri, Ravichandra; Prashanth, Evuru; Gopalakrishnan, D; Kathariya, Rahul; Devanoorkar, Archana; Viswanathan, Vidya; Romanos, Georgios E

    2015-01-01

    Background: Both osteoporosis (OP) and periodontitis are chronic inflammatory diseases associated with bone loss mediated by local and systemic factors. The two diseases share common risk factors. Previous studies have suggested that OP in itself is a predisposing factor for periodontal tissue destruction in postmenopausal women. However, only a moderate correlation has been shown between the two conditions. In this study, we compared the severity of periodontal disease in postmenopausal osteoporotic women and postmenopausal women without OP. Materials and Methods: The study group consisted of 100 postmenopausal women in the age group of 50-65 years: Group 1 (50 osteoporotic) and Group 2 (50 non-osteoporotic women). Periodontal parameters included sulcus bleeding index, oral hygiene index simplified, probing pocket depth (PPD), and clinical attachment loss (CAL), interproximal alveolar bone loss (ABL), and number of missing teeth. The correlation of periodontal disease status with systemic bone mineral density (BMD) was evaluated by dual-energy X-ray absorptiometry. Results: The results indicated that osteoporotic (Group 1) women had a significantly greater PPD, CAL, and ABL when compared with the non-osteoporotic Group 2 (P < 0.0001). There was no significant correlation between BMD and various parameters between the groups. Conclusions: Within the limitations of the present study it was noted that postmenopausal OP is associated with an increased incidence and severity of periodontal disease. Educating postmenopausal osteoporotic women regarding the importance of good oral care should be part of their management regime. Hence, it could be inferred a possibility of a probable relationship between OP and periodontal disease, but long-term prospective studies are warranted in the future in order to provide definitive evidence. PMID:26435630

  17. Appendicectomy, childhood hygiene, Helicobacter pylori status, and risk of inflammatory bowel disease: a case control study

    PubMed Central

    Duggan, A; Usmani, I; Neal, K; Logan, R

    1998-01-01

    Aims—To examine the relation between inflammatory bowel disease and appendicectomy, childhood domestic hygiene, and Helicobacter pylori infection. 
Methods—Case control study involving 213 patients with ulcerative colitis, 110 with Crohn's disease, and 337 controls having elective surgery. 
Results—Nine patients with ulcerative colitis (4.5%) reported a previous appendicectomy compared with 57 controls (19%) (odds ratio (OR) 0.20, 95% confidence interval (CI) 0.1-0.4, p<0.0001). The inverse association was unaffected by excluding operations performed after the age of onset of ulcerative colitis and was stronger for appendicectomy performed before age 20 (OR 0.14). No association with appendicectomy was found for Crohn's disease and no associations with tonsillectomy for either disease. The availability of a fixed hot water supply in early childhood (before age 11) was associated with Crohn's disease (OR for hot water not always versus always available 0.56, 95% CI 0.3-0.9, p=0.02) but not with ulcerative colitis. No other aspect of domestic hygiene before or after age 11 was associated with either Crohn's disease or ulcerative colitis. Although H pylori seroprevalence was positively associated with overcrowding (p<0.001) and the absence of running hot water in childhood it was not associated with the presence of either Crohn's disease or ulcerative colitis. H pylori seroprevalence was no lower in patients who had been exposed to sulphasalazine than in controls or those not exposed. 
Conclusions—Our findings confirm the strong inverse association between previous appendicectomy and the development of ulcerative colitis and suggest that the protective effect is greater for appendicectomy performed in childhood. 

 Keywords: inflammatory bowel disease; appendicectomy; tonsillectomy; childhood hygiene; Helicobacter pylori; sulphasalazine PMID:9824576

  18. A Study on Oral Mucosal Lesions in 3500 Patients with Dermatological Diseases in South India

    PubMed Central

    Babu, RS Arvind; Chandrashekar, P; Kumar, K Kiran; Reddy, G Sridhar; Chandra, K Lalith Prakash; Rao, V; Reddy, BVR

    2014-01-01

    Background: Oral mucosal lesions that are observed in the dermatological diseases are categorized under mucocutaneous conditions. The oral lesions in dermatological diseases may be the early aspects of the disease manifestation or the most significant clinical appearance or the only sign/and or symptom of such dermatological diseases and occasionally lesions occur simultaneously in the skin as well as mucous membrane. Aim: This present study attempts to find out the prevalence of oral mucosal lesions in patients with dermatological diseases. Subjects and Methods: The study includes 3500 patients who attended out-patient Department of Dermatology. Patients with oral manifestation were subjected for clinical examination in the Department of Oral Pathology. Diagnostic procedures were performed to confirm the clinical oral diagnosis. The results of the study were analyzed by SPSS software version 19.0 (Armonk, NY) and presented as descriptive statistics. Correlation of oral manifestions with their respective dermatological disease was statistically analysed by Pearson's correlation test.(P < 0.05 were considered as statistically significant) Results: The prevalence rate of oral mucosal lesions in the present study was 1.8% (65/3500). The most frequent lesions observed were psoriasis 32.3% (21/65), lichen planus 18.4% (12/65), Stevens Johnson Syndrome 18.4% (12/65), pemphigus 10.7% (7/65), toxic epidermal necrolysis 4.6% (3/65), systemic lupus erythematosus 3% (2/65), discoid lupus erythematosus 1.5% (1/65), pemphigoid 1.5% (1/65). Gender distribution in the study population was statistically significant (P < 0.001). Employed and unemployed individuals in the study population were statistically significant (P < 0.001). Pearson's correlation analysis of oral manifestations with their respective dermatological disease showed r = 0.466 and signifies a positive correlation and is statistically significant at the 0.01 level (two-tailed). Conclusion: The prevalence rate of

  19. A comparative study of anxiety and depression in patients with bronchial asthma, chronic obstructive pulmonary disease and tuberculosis in a general hospital of chest diseases

    PubMed Central

    Moussas, Georgios; Tselebis, Athanasios; Karkanias, Athanasios; Stamouli, Dimitra; Ilias, Ioannis; Bratis, Dionisios; Vassila-Demi, Kalliopi

    2008-01-01

    Background Depression necessitating assistance from health professionals has a lifetime prevalence of 10%. Chronic disease increases comorbidity with mood and/or anxiety disorders. Patients with chronic pulmonary disease present with severely impaired functionality, chronic somatic and psychogenic pain, require frequent hospitalizations and have a dependency upon medical and nursing personnel. In the present study we assessed anxiety and depression in patients hospitalized for pulmonary disease in a pulmonary disease hospital. Methods We assessed anxiety, using the Spielberger state-trait anxiety scale, and depression, using the Beck Depression Inventory, in 132 patients with pulmonary disease. Results A total of 49.2% of the sample had moderate or severe depression and 26.5% had anxiety. Women had higher depression and anxiety scores than men (t test, p < 0.05). Depression was positively correlated with anxiety, age and time from diagnosis. Anxiety was positively correlated with depression and time from diagnosis (Pearson r = 0.62 and 0.29, p < 0.01). Patients with chronic obstructive pulmonary disease and bronchial asthma had higher depression scores than patients with tuberculosis (t test, p < 0.01). Conclusion Depression and anxiety are very prevalent in patients with pulmonary disease, especially chronic disease. This may be a very important negative factor in patients' adaptation to the chronic course of their disease. PMID:18495038

  20. Arsenic exposure from drinking water and mortality from cardiovascular disease in Bangladesh: prospective cohort study

    PubMed Central

    Graziano, Joseph H; Parvez, Faruque; Liu, Mengling; Slavkovich, Vesna; Kalra, Tara; Argos, Maria; Islam, Tariqul; Ahmed, Alauddin; Rakibuz-Zaman, Muhammad; Hasan, Rabiul; Sarwar, Golam; Levy, Diane; van Geen, Alexander

    2011-01-01

    Objective To evaluate the association between arsenic exposure and mortality from cardiovascular disease and to assess whether cigarette smoking influences the association. Design Prospective cohort study with arsenic exposure measured in drinking water from wells and urine. Setting General population in Araihazar, Bangladesh. Participants 11 746 men and women who provided urine samples in 2000 and were followed up for an average of 6.6 years. Main outcome measure Death from cardiovascular disease. Results 198 people died from diseases of circulatory system, accounting for 43% of total mortality in the population. The mortality rate for cardiovascular disease was 214.3 per 100 000 person years in people drinking water containing <12.0 µg/L arsenic, compared with 271.1 per 100 000 person years in people drinking water with ≥12.0 µg/L arsenic. There was a dose-response relation between exposure to arsenic in well water assessed at baseline and mortality from ischaemic heart disease and other heart disease; the hazard ratios in increasing quarters of arsenic concentration in well water (0.1-12.0, 12.1-62.0, 62.1-148.0, and 148.1-864.0 µg/L) were 1.00 (reference), 1.22 (0.65 to 2.32), 1.35 (0.71 to 2.57), and 1.92 (1.07 to 3.43) (P=0.0019 for trend), respectively, after adjustment for potential confounders including age, sex, smoking status, educational attainment, body mass index (BMI), and changes in urinary arsenic concentration since baseline. Similar associations were observed when baseline total urinary arsenic was used as the exposure variable and for mortality from ischaemic heart disease specifically. The data indicate a significant synergistic interaction between arsenic exposure and cigarette smoking in mortality from ischaemic heart disease and other heart disease. In particular, the hazard ratio for the joint effect of a moderate level of arsenic exposure (middle third of well arsenic concentration 25.3-114.0 µg/L, mean 63.5 µg/L) and

  1. Catch-up growth in childhood and death from coronary heart disease: longitudinal study

    PubMed Central

    Eriksson, J G; Forsén, T; Tuomilehto, J; Winter, P D; Osmond, C; Barker, D J P

    1999-01-01

    Objective To examine whether catch-up growth during childhood modifies the increased risk of death from coronary heart disease that is associated with reduced intrauterine growth. Design Follow up study of men whose body size at birth was recorded and who had an average of 10 measurements taken of their height and weight through childhood. Setting Helsinki, Finland. Subjects 3641 men who were born in Helsinki University Central Hospital during 1924-33 and who went to school in Helsinki. Main outcome measures Hazard ratios for death from coronary heart disease. Results Death from coronary heart disease was associated with low birth weight and, more strongly, with a low ponderal index at birth. Men who died from coronary heart disease had an above average body mass index at all ages from 7 to 15 years. In a simultaneous regression the hazard ratio for death from the disease increased by 14% (95% confidence interval 8% to 19%; P<0.0001) for each unit (kg/m3) decrease in ponderal index at birth and by 22% (10% to 36%; P=0.0001) for each unit (kg/m2) increase in body mass index at 11 years of age. Body mass index in childhood was strongly related to maternal body mass index, which in turn was related to coronary heart disease. The extent of crowding in the home during childhood, although related to body mass index in childhood, was not related to later coronary heart disease. Conclusion The highest death rates from coronary heart disease occurred in boys who were thin at birth but whose weight caught up so that they had an average or above average body mass from the age of 7 years. Death from coronary heart disease may be a consequence of poor prenatal nutrition followed by improved postnatal nutrition. Key messagesMen who had low birth weight or were thin at birth have high death rates from coronary heart diseaseDeath rates are even higher if weight “catches up” in early childhoodDeath from coronary heart disease may be a consequence of prenatal undernutrition

  2. Saliva in studies of epidemiology of human disease: the UK Biobank project.

    PubMed

    Galloway, John W; Keijser, Bart J F; Williams, David M

    2016-02-01

    There has been immense interest in the uses of saliva in the diagnosis of systemic disease over the past decade and longer because it is recognized that saliva possesses great potential as a diagnostic fluid. In spite of this, the usefulness of saliva in studies of the epidemiology of human disease has still to be properly evaluated. This review describes the UK Biobank project and explores the scope to use this and other such cohort studies to gain important insights into the epidemiological aspects of systemic disease. The Biobank holds around 85,000 well-characterized saliva samples, together with blood and urine samples, the results of a battery of physiological tests, a full medical history and a detailed description of the subject's lifestyle. This repository is a resource for insightful and highly powered oral and dental research. PMID:26662490

  3. Transmission of enteric disease associated with wastewater irrigation: a prospective epidemiological study.

    PubMed Central

    Shuval, H I; Wax, Y; Yekutiel, P; Fattal, B

    1989-01-01

    We conducted a prospective epidemiological study of possible enteric disease transmission by aerosolized pathogens from sprinkler irrigation of partially treated wastewater in 20 kibbutzim (collective agricultural settlements) in Israel between March 1981 and February 1982. Medical data were collected from the patients' files and daily logs of physicians and nurses at each kibbutz clinic (total population 10,231). Episodes of enteric disease were similar in the kibbutzim most exposed to wastewater aerosols (11.6 per 100 person-year) and the kibbutzim not exposed to wastewater in any form (11.0 per 100 person-year). No excess of enteric disease was seen among wastewater contact workers or their families as compared with the unexposed. No negative health effects were detected in this study which involved a large population, including many young children, exposed to treated wastewater aerosols generated at distances of 300-600 m. PMID:2735471

  4. Coronary heart disease risk prediction in the Atherosclerosis Risk in Communities (ARIC) study.

    PubMed

    Chambless, Lloyd E; Folsom, Aaron R; Sharrett, A Richey; Sorlie, Paul; Couper, David; Szklo, Moyses; Nieto, F Javier

    2003-09-01

    Risk prediction functions for incident coronary heart disease (CHD) were estimated using data from the Atherosclerosis Risk in Communities (ARIC) Study, a prospective study of CHD in 15,792 persons recruited in 1987-1989 from four U.S. communities, with follow-up through 1998. Predictivity of which individuals had incident CHD was assessed by increase in area under ROC curves resulting from adding nontraditional risk factors and markers of subclinical disease to a basic model containing only traditional risk factors. We also assessed the increase in population attributable risk. The additional factors were body mass index; waist-hip ratio; sport activity index; forced expiratory volume; plasma fibrinogen, factor VIII, von Willebrand factor, and Lp(a); heart rate; Keys score; pack-years smoking; and subclinical disease marker carotid intima-media thickness. These factors substantially improved prediction of future CHD for men, less for women, and also increased attributable risks. PMID:14505774

  5. The social context of cardiovascular disease: challenges and opportunities for the Jackson Heart Study.

    PubMed

    Williams, David R; Leavell, Jacinta

    2012-01-01

    African Americans have higher rates of cardiovascular disease (CVD) than Whites and the racial gap in heart disease is widening over time. There are especially striking patterns of the earlier onset of disease, greater severity of illness and large racial differences in CVD even when Blacks and Whites are compared at the same level of economic status. This paper outlines critical research opportunities for the Jackson Heart Study to advance the science base for understanding and effectively addressing racial disparities in CVD. These include: 1) the study of CVD by using a life course perspective; 2) comprehensively characterizing social stressors; 3) expanding our analysis of how racism affects health; 4) explicating variation in the levels and impact of risk factors; 5) advancing our understanding of the contribution of genetics to CVD; 6) understanding resilience and its effects on CVD; and 7) identifying how economic crises can shape CVD risk. PMID:23156834

  6. Brain eQTL Mapping Informs Genetic Studies of Psychiatric Diseases

    PubMed Central

    Liu, Chunyu

    2011-01-01

    Genome-wide association studies (GWASs) have been used to identify genes that increase risk of psychiatric diseases. However, much of the variation in disease risk is still unexplained, suggesting that there are genes still to be discovered. Functional annotation of genetic variants may increase the power of GWASs to identify disease genes by providing prior information that can be used in Bayesian analysis or in reducing the number of tests. Genetic mapping of expression quantitative trait loci (eQTLs) is helping us to reveal novel functional effects of thousands of single nucleotide polymorphisms (SNPs). The published brain eQTL studies are reviewed here, and major methodological issues and their possible solutions are discussed. We emphasize the frequently-ignored problems of batch effects, covariates, and multiple testing, all of which can lead to false positives and false negatives. The future application of eQTL data to the GWAS analysis is also discussed. PMID:21441974

  7. Identifying strains that contribute to complex diseases through the study of microbial inheritance

    PubMed Central

    Faith, Jeremiah J.; Colombel, Jean-Frédéric; Gordon, Jeffrey I.

    2015-01-01

    It has been 35 y since Carl Woese reported in PNAS how sequencing ribosomal RNA genes could be used to distinguish the three domains of life on Earth. During the past decade, 16S rDNA sequencing has enabled the now frequent enumeration of bacterial communities that populate the bodies of humans representing different ages, cultural traditions, and health states. A challenge going forward is to quantify the contributions of community members to wellness, disease risk, and disease pathogenesis. Here, we explore a theoretical framework for studies of the inheritance of bacterial strains and discuss the advantages and disadvantages of various study designs for assessing the contribution of strains to complex diseases. PMID:25576328

  8. Early infections are associated with increased risk for celiac disease: an incident case-referent study

    PubMed Central

    2012-01-01

    Background Celiac disease is defined as a ‘chronic small intestinal immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically predisposed individuals’. Sweden has experienced an “epidemic” of celiac disease in children below two years of age. Celiac disease etiology is considered multifactorial; however, little is known regarding potential risk- or protecting factors. We present data on the possible association between early infectious episodes and celiac disease, including their possible contribution to the Swedish celiac disease epidemic. Methods A population-based incident case-referent study (475 cases, 950 referents) with exposure information obtained via a questionnaire (including family characteristics, infant feeding, and the child’s general health) was performed. Celiac disease cases were diagnosed before two years of age, fulfilling the diagnostic criteria of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition. Referents were randomly selected from the national population register after fulfilling matching criteria. The final analyses included 954 children, 373 (79%) cases and 581 (61%) referents, with complete information on main variables of interest in a matched set of one case with one or two referents. Results Having three or more parental-reported infectious episodes, regardless of type of infection, during the first six months of life was associated with a significantly increased risk for later celiac disease, and this remained after adjusting for infant feeding and socioeconomic status (odds ratio [OR] 1.5; 95% confidence interval [CI], 1.1-2.0; P=0.014). The celiac disease risk increased synergistically if, in addition to having several infectious episodes, infants were introduced to dietary gluten in large amounts, compared to small or medium amounts, after breastfeeding was discontinued (OR 5.6; 95% CI, 3.1-10; P<0.001). Conclusion This study suggests that having repeated

  9. [Hyperhomocysteinemia in coronary artery diseases. Apropos of a study on 102 patients].

    PubMed

    Blacher, J; Montalescot, G; Ankri, A; Chadefaux-Vekemans, B; Benzidia, R; Grosgogeat, Y; Kamoun, P; Thomas, D

    1996-10-01

    Homocystein is at the crossroads of the metabolic pathways of sulphuric amino acids. Homocystinuria is a congenital autosomal recessive disease, usually related to cystathionine beta-synthetase deficiency. Children with homozygotic forms of the disease have early vascular complications which represent the main cause of death. Moderately elevated serum homocystein levels are related to two major genetic factors (heterozygotic cystathionine beta-synthetase deficiency and mutation of the 5-10 methylene tetrahydrofolate reductase) and several minor, genetic and non-genetic factors (folic acid, vitamins B6 and B12 and betain deficiencies). Previous studies have suggested that hyperhomocysteinaemia could be a cardiovascular risk factor. This study was based on 222 subjects including 102 consecutive patients with angiographically documented coronary artery disease and 120 control subjects without vascular disease. No relationship was observed between serum homocystein concentrations and the classical cardiovascular risk factors. Coronary patients had higher average homocystein concentrations than control subjects (11.27 +/- 0.52 vs 8.77 +/- 0.31 mumol/l); p < 0.0001): moreover, the prevalence of hyperhomocysteinaemia (> 15.67 mumol/l) was higher in the coronary group (15.7%) than in the controls (2.5%). A significant relationship was also observed between homocystein concentrations and the severity of the coronary disease (defined by a coronary score) and the number of diseased vascular territories. These results underline the relationship between homocystein and vascular risk, especially that of coronary artery disease. The treatment of hyperhomocysteinaemia by folic acid supplements is effective in correcting plasma levels, without side effects and at a relatively low cost. PMID:8952820

  10. Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case–control study

    PubMed Central

    2013-01-01

    Background Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (PREP). Methods In this case–control study we prospectively studied 76 consecutive Fabry patients for electrical small fiber conduction in correlation with small fiber function and morphology. Data were compared with healthy controls using non-parametric statistical tests. All patients underwent neurological examination and were investigated with pain and depression questionnaires. Small fiber function (quantitative sensory testing, QST), morphology (skin punch biopsy), and electrical conduction (PREP) were assessed and correlated. Patients were stratified for gender and disease severity as reflected by renal function. Results All Fabry patients (31 men, 45 women) had small fiber neuropathy. Men with Fabry disease showed impaired cold (p < 0.01) and warm perception (p < 0.05), while women did not differ from controls. Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function. When investigating A-delta fiber conduction with PREP, men but not women with Fabry disease had lower amplitudes upon stimulation at face (p < 0.01), hands (p < 0.05), and feet (p < 0.01) compared to controls. PREP amplitudes further decreased with advance in disease severity. PREP amplitudes and warm (p < 0.05) and cold detection thresholds (p < 0.01) at the feet correlated positively in male patients. Conclusion Small fiber conduction is impaired in men with Fabry disease and worsens with advanced disease severity. PREP are well-suited to measure A-delta fiber conduction. PMID:23705943

  11. A study of the awareness of chronic liver diseases among Korean adults

    PubMed Central

    Jun, Dae Won; Cho, Yong Kyun; Lee, Chang Hyeong; Kim, Seok Hyun; Eun, Jong Ryul

    2011-01-01

    Background/Aims Chronic liver disease is closely associated with lifestyle, and public enlightenment of the lifestyle factors is important in reducing prevalence of chronic liver disease. The KASL (Korean Association for the Study of the Liver) conducted a survey of basic information and epidemiological data regarding chronic liver diseases. Methods A survey of chronic liver disease involving a total of 2,794 respondents was conducted. The respondents included patients and their guardians, visitors for health check-ups, and online pollees who completed a questionnaire on the awareness of fatty liver or chronic liver disease. Results Of the entire cohort, 854 (39.7%) said they have had or still have fatty liver or an elevated transaminase level (>40 IU/L), but only 23.4% of the respondents had visited a hospital. It was found that 35% of healthy subjects and 45% of patients and their guardians misunderstood hepatitis B as the hereditary disesase. Furthermore, 26% of the subjects responded that patients with inactive hepatitis B do not require regular follow-up. While 17.9% answered that it is not too late to test for liver cancer when symptoms arise, 38.8% believed that liver transplant in liver cancer patients has a low success rate and is thus not recommended. Conclusions Despite the inundation of information and widespread media advertising, the awareness of chronic liver disease is unsatisfactory among Korean adults. Systematic nationwide studies are needed to obtain data and information regarding the prevalence of chronic liver disease and patterns of use of the health-care system. PMID:21757980

  12. Risk factors associated with asbestos-related diseases: a community-based case–control study

    PubMed Central

    2013-01-01

    Background Asbestos is a first level carcinogen. However, few epidemiological studies analyse the risk and protective factors associated with asbestos-related diseases and follow up these conditions in the general population. Pleural mesothelioma, caused by inhalation of asbestos fibres at work, at home or in the environment, is the most representative asbestos-related disease. The objectives of this study are to analyse the risk and protective factors associated with asbestos-related diseases and to investigate the incidence of new clinical manifestations in patients already diagnosed with some form of ARD. Methods/Design We have designed a matched case–control study with follow up of both cohorts from a population of a health district of the Barcelona province that has been exposed to asbestos for a period of 90 years. Discussion A better understanding of asbestos-related diseases should improve i) the clinical and epidemiological follow up of patients with this condition; ii) the design of new treatment strategies; iii) and the development of preventive activities. At the end of the study, the two cohorts created in this study (affected cases and healthy controls) will constitute the basis for future research. PMID:23915043

  13. Studying vocal fold vibrations in Parkinson's disease with a nonlinear model

    NASA Astrophysics Data System (ADS)

    Zhang, Yu; Jiang, Jack; Rahn, Douglas A.

    2005-09-01

    A nonlinear model is applied to study pathologic vocal vibratory characteristics and voice treatments of Parkinson's disease. We find that a number of pathologic vocal characteristics commonly observed in Parkinson's disease, including reduced vibratory intensity, incomplete vocal closure, increased phonation threshold pressure, glottal tremor, subharmonics, and chaotic vocal fold vibrations, can be studied with this nonlinear model. We also find that two kinds of clinical voice treatments for Parkinson's disease, including respiratory effort treatment and Lee Silverman voice treatment can be studied with this computer model. Results suggest that respiratory effort treatment, in which subglottal pressure is increased, might aid in enhancing vibratory intensity, improving glottal closure, and avoiding vibratory irregularity. However, the Lee Silverman voice treatment, in which both subglottal pressure and vocal fold adduction are increased, might be better than respiratory effort treatment. Increasing vocal fold thickness would be further helpful to improve these pathologic characteristics. The model studies show consistencies with clinical observations. Computer models may be of value in understanding the dynamic mechanism of disordered voices and studying voice treatment effects in Parkinson's disease.

  14. Low-dose ionising radiation and cardiovascular diseases--Strategies for molecular epidemiological studies in Europe.

    PubMed

    Kreuzer, Michaela; Auvinen, Anssi; Cardis, Elisabeth; Hall, Janet; Jourdain, Jean-Rene; Laurier, Dominique; Little, Mark P; Peters, Annette; Raj, Ken; Russell, Nicola S; Tapio, Soile; Zhang, Wei; Gomolka, Maria

    2015-01-01

    It is well established that high-dose ionising radiation causes cardiovascular diseases. In contrast, the evidence for a causal relationship between long-term risk of cardiovascular diseases after moderate doses (0.5-5 Gy) is suggestive and weak after low doses (<0.5 Gy). However, evidence is emerging that doses under 0.5 Gy may also increase long-term risk of cardiovascular disease. This would have major implications for radiation protection with respect to medical use of radiation for diagnostic purposes and occupational or environmental radiation exposure. Therefore, it is of great importance to gain information about the presence and possible magnitude of radiation-related cardiovascular disease risk at doses of less than 0.5 Gy. The biological mechanisms implicated in any such effects are unclear and results from epidemiological studies are inconsistent. Molecular epidemiological studies can improve the understanding of the pathogenesis and the risk estimation of radiation-induced circulatory disease at low doses. Within the European DoReMi (Low Dose Research towards Multidisciplinary Integration) project, strategies to conduct molecular epidemiological studies in this field have been developed and evaluated. Key potentially useful European cohorts are the Mayak workers, other nuclear workers, uranium miners, Chernobyl liquidators, the Techa river residents and several diagnostic or low-dose radiotherapy patient cohorts. Criteria for informative studies are given and biomarkers to be investigated suggested. A close collaboration between epidemiology, biology and dosimetry is recommended, not only among experts in the radiation field, but also those in cardiovascular diseases. PMID:26041268

  15. A review of health utilities using the EQ-5D in studies of cardiovascular disease

    PubMed Central

    2010-01-01

    Background The EQ-5D has been extensively used to assess patient utility in trials of new treatments within the cardiovascular field. The aims of this study were to review evidence of the validity and reliability of the EQ-5D, and to summarise utility scores based on the use of the EQ-5D in clinical trials and in studies of patients with cardiovascular disease. Methods A structured literature search was conducted using keywords related to cardiovascular disease and EQ-5D. Original research studies of patients with cardiovascular disease that reported EQ-5D results and its measurement properties were included. Results Of 147 identified papers, 66 met the selection criteria, with 10 studies reporting evidence on validity or reliability and 60 reporting EQ-5D responses (VAS or self-classification). Mean EQ-5D index-based scores ranged from 0.24 (SD 0.39) to 0.90 (SD 0.16), while VAS scores ranged from 37 (SD 21) to 89 (no SD reported). Stratification of EQ-5D index scores by disease severity revealed that scores decreased from a mean of 0.78 (SD 0.18) to 0.51 (SD 0.21) for mild to severe disease in heart failure patients and from 0.80 (SD 0.05) to 0.45 (SD 0.22) for mild to severe disease in angina patients. Conclusions The published evidence generally supports the validity and reliability of the EQ-5D as an outcome measure within the cardiovascular area. This review provides utility estimates across a range of cardiovascular subgroups and treatments that may be useful for future modelling of utilities and QALYs in economic evaluations within the cardiovascular area. PMID:20109189

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

    PubMed

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

    2000-06-01

    Records of 105 dogs with pronounced eosinophilia (>2.2 x 10(9) eosinophils/litre) were evaluated in a retrospective study to determine diseases associated with the abnormality in dogs in Sweden. Inflammatory disease in organs with large epithelial surfaces, such as the gut, lungs or skin, was found in 36 per cent of the dogs. A further one-quarter of the 105 cases were placed in the 'miscellaneous' category, which comprised various diseases found at low frequency. The most well defined diagnosis was pulmonary infiltrates with eosinophils in 12 per cent of the dogs. A further 11 per cent had parasitic disease caused by either sarcoptic mange or nasal mite. No atopic dog was found and rottweilers were over-represented in most disease groups. Pronounced eosinophilia, in many cases transient, seems to be associated with a variety of disorders in dogs. In the present study, rottweilers appeared to be more prone to a high eosinophil response than other breeds. PMID:10879402

  17. Recent Scientific Studies of a Traditional Chinese Medicine, Tea, on Prevention of Chronic Diseases

    PubMed Central

    Yang, Chung S.; Chen, Gang; Wu, Qing

    2014-01-01

    Green tea (綠茶 Lǜ Chá), made from the leaves of the plant Camellia sinensis, has traditionally been used as a medicine in China for thousands of years. According to the classical work of Li Shizhen (李時珍 Lǐ Shí Zhēn) of the Ming Dynasty, “tea is cold and lowers the fire.” Since fire (inflammation) causes many diseases, could tea be effective in the prevention of many diseases? The possible prevention of chronic diseases such as cancer, metabolic syndrome, obesity, diabetes, and cardiovascular diseases has been studied with contemporary scientific methods, and the results are promising. The molecular mechanisms underlining these observations will be discussed in this presentation. One of the reasons for the failure to demonstrate a disease-preventive effect of tea in some epidemiological studies is the lower quantities of tea consumption in humans. Can we increase the quantity of tea consumption to harness its health benefits without causing gastrointestinal irritation? This is a topic for further research. PMID:24872929

  18. Hemoglobin and Hematocrit Levels in the Prediction of Complicated Crohn's Disease Behavior – A Cohort Study

    PubMed Central

    Rieder, Florian; Paul, Gisela; Schnoy, Elisabeth; Schleder, Stephan; Wolf, Alexandra; Kamm, Florian; Dirmeier, Andrea; Strauch, Ulrike; Obermeier, Florian; Lopez, Rocio; Achkar, Jean-Paul; Rogler, Gerhard; Klebl, Frank

    2014-01-01

    Background Markers that predict the occurrence of a complicated disease behavior in patients with Crohn's disease (CD) can permit a more aggressive therapeutic regimen for patients at risk. The aim of this cohort study was to test the blood levels of hemoglobin (Hgb) and hematocrit (Hct) for the prediction of complicated CD behavior and CD related surgery in an adult patient population. Methods Blood samples of 62 CD patients of the German Inflammatory Bowel Disease-network “Kompetenznetz CED” were tested for the levels of Hgb and Hct prior to the occurrence of complicated disease behavior or CD related surgery. The relation of these markers and clinical events was studied using Kaplan-Meier survival analysis and adjusted COX-proportional hazard regression models. Results The median follow-up time was 55.8 months. Of the 62 CD patients without any previous complication or surgery 34% developed a complication and/or underwent CD related surgery. Low Hgb or Hct levels were independent predictors of a shorter time to occurrence of the first complication or CD related surgery. This was true for early as well as late occurring complications. Stable low Hgb or Hct during serial follow-up measurements had a higher frequency of complications compared to patients with a stable normal Hgb or Hct, respectively. Conclusions Determination of Hgb or Hct in complication and surgery naïve CD patients might serve as an additional tool for the prediction of complicated disease behavior. PMID:25116048

  19. Short Duration, Intensive Tango Dancing for Parkinson Disease: An Uncontrolled Pilot Study

    PubMed Central

    Hackney, Madeleine E.; Earhart, Gammon M.

    2009-01-01

    Objective The goal of this pilot study was to determine the effects of short duration, intensive tango lessons on functional mobility in people with Parkinson disease. Design This study employed a within-subject, prospective, repeated measures design. Subjects/Patients Fourteen people with idiopathic Parkinson disease participated. Setting All balance and gait assessments were performed in a laboratory, but dance classes took place in a large, open classroom. Interventions Participants completed ten 1.5 hour long Argentine tango dance lessons within two weeks. Their balance, gait and mobility were assessed before and after the training sessions. Main Outcome Measures Measures included the Berg Balance Scale, the Unified Parkinson Disease Rating Scale, gait velocity, functional ambulation profile, step length, stance and single support percent of gait, Timed Up and Go, and the six minute walk. Results Participants significantly improved on the Berg Balance Scale (effect size (ES) = 0.83, p = 0.021), Unified Parkinson Disease Rating Scale Motor Subscale III (ES = −0.64, p = 0.029), and percent of time spent in stance during forward walking (ES = 0.97, p = 0.015). Non-significant improvements were noted on the Timed Up and Go (ES = −0.38, p = 0.220) and 6-minute walk (ES = 0.35, p = 0.170). Conclusions Frequent social dance lessons completed within a short time period appear to be appropriate and effective for these individuals with mild-moderately severe Parkinson disease. PMID:19632547

  20. The importance of a proper aetiological diagnosis in the management of patients with invasive mycoses: a case report of a brain abscess by Scedosporium apiospermum.

    PubMed

    Caggiano, Giuseppina; Cantisani, Piero; Rolli, Marilena; Gianfreda, Cosimo Damiano; Pizzolante, Maria; Montagna, Maria Teresa

    2011-10-01

    Scedosporium apiospermum is a saprobic fungus responsible for many different clinical manifestations. Although it affects mostly immunocompromised patients, pulmonary and disseminated scedosporiosis have also been reported in immunocompetent subjects. It often causes subcutaneous mycetoma, despite its preferential tropism to CNS. The authors describe a fatal case of a S. apiospermum brain abscess in a 58-year-old female. She was affected by chronic liver disease and idiopathic pulmonary fibrosis and had been treated with corticosteroid therapy for a long time. She recovered in a neurosurgery unit, wherein TC scan and cerebral MRI revealed an expansive left temporo-parietal process with vasogenic oedema. A stereotactic puncture of the lesion was carried out, and pus of brain abscess was evacuated. Empirical antifungal therapy was initiated with liposomal amphotericine B based on the clinical suspicion of Zygomycetes infection; after 3 days, posaconazole was added. The correct aetiological diagnosis arrived too late and the patient was treated with no specific therapy. This fatal case confirms the necessity of having a fast and correct aetiological diagnosis to improve the patient's outcome. PMID:21678124

  1. The Ophthalmic Branch of the Gutenberg Health Study: Study Design, Cohort Profile and Self-Reported Diseases

    PubMed Central

    Höhn, René; Kottler, Ulrike; Peto, Tunde; Blettner, Maria; Münzel, Thomas; Blankenberg, Stefan; Lackner, Karl J.; Beutel, Manfred

    2015-01-01

    Purpose This paper describes the study design, methodology, cohort profile and self-reported diseases in the ophthalmological branch of the Gutenberg Health Study (GHS). Methods The GHS is an ongoing, prospective, interdisciplinary, single-center, population-based cohort study in Germany. The main goals of the ophthalmological section are to assess the prevalence and incidence of ocular diseases and to explore risk factors, genetic determinants and associations with systemic diseases and conditions. The eye examination at baseline included a medical history, self-reported eye diseases, visual acuity, refractive errors, intraocular pressure, visual field, pachymetry, keratometry, fundus photography and tear sampling. The 5-year follow-up visit additionally encompassed optical coherence tomography, anterior segment imaging and optical biometry. The general examination included anthropometry; blood pressure measurement; carotid artery ultrasound; electrocardiogram; echocardiography; spirometry; cognitive tests; questionnaires; assessment of mental conditions; and DNA, RNA, blood and urine sampling. Results Of 15,010 participants (aged 35-74 years at the time of inclusion), ocular data are available for 14,700 subjects (97.9%). The mean visual acuity (standard deviation), mean spherical equivalent, median decimal visual acuity, and mean intraocular pressure were 0.08 (0.17) logMar, -0.42 (2.43) diopters, 0.9 and 14.24 (2.79) mm Hg, respectively. The frequencies of self-reported strabismus, glaucoma, surgery for retinal detachment and retinal vascular occlusions were 2.7%, 2.3%, 0.2% and 0.4%, respectively. Conclusions The GHS is the most extensive dataset of ophthalmic diseases and conditions and their risk factors in Germany and one of the largest cohorts worldwide. This dataset will provide new insight in the epidemiology of ophthalmic diseases and related medical specialties. PMID:25775251

  2. Quels agents incriminés dans les mycoses du pied ? Enquête auprès des diabétiques consultant au CHU Mohammed VI de Marrakech

    PubMed Central

    Chegour, Hakima; El Ansari, Nawal; El Mghari, Ghizlane; Tali, Abdelali; Zoughaghi, Laila; Sebbani, Majda; Amine, Mohamed

    2014-01-01

    Les infections mycosiques du pied constituent un motif fréquent de consultation chez les diabétiques, le diabète constituant à la fois un facteur favorisant et aggravant les lésions cutanéomuqueuses. L'objectif de ce travail était d'identifier la flore mycologique locale responsable des lésions du pied chez le diabétique et déterminer les facteurs favorisant la survenue de mycoses. Il s'agissait d'une étude transversale intéressant des diabétiques suivis en consultation; un prélèvement mycologique, avec examen direct et culture, a été réalisé devant toute suspicion clinique de lésion mycosique. Quatre-vingt-deux patients ont été inclus. L'hémoglobine glycosylée moyenne a été de9,2% ± 2,23. Un intertrigo inter orteil a été noté dans 90,2% des cas; l'examen mycologique était positif dans 64,8% des cas, avec 18 cas de Trichophyton rubrum et 11 cas de Candida albicans. Une atteinte unguéale a été suspectée chez 65,9% patients; la culture a mis en évidence un Trichosporon pathogène chez sept patients, un Candida albicansdans six cas, un Trichophyton rubrum dans quatre cas, avec trois cas de Trichophyton mentagrophytes et deux cas de Scytalidium dimidiatum. L’étude analytique, après confirmation mycologique, en fonction des principales caractéristiques des patients a montré que l'atteinte mycosique du pied est significativement corrélée au déséquilibre glycémique. Ce travail a montré la prédominance du Trichophyton rubrum dans les lésions d'intertrigo inter orteil et du Trichosporon dans les onychomycoses, avec une prédominance globale plus globale plus élevée du TR. PMID:25170372

  3. Factors Related to Cardiovascular Disease Risk Reduction in Midlife and Older Women: A Qualitative Study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular disease (CVD) is the leading cause of death for women in the United States. Although a healthy diet and appropriate physical activity can help reduce risk, few women are engaging in these behaviors. In this study, qualitative methods were used to better understand: knowledge and aware...

  4. FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies.

    PubMed

    Chung, Ren-Hua; Tsai, Wei-Yun; Kang, Chen-Yu; Yao, Po-Ju; Tsai, Hui-Ju; Chen, Chia-Hsiang

    2016-06-01

    In disease studies, family-based designs have become an attractive approach to analyzing next-generation sequencing (NGS) data for the identification of rare mutations enriched in families. Substantial research effort has been devoted to developing pipelines for automating sequence alignment, variant calling, and annotation. However, fewer pipelines have been designed specifically for disease studies. Most of the current analysis pipelines for family-based disease studies using NGS data focus on a specific function, such as identifying variants with Mendelian inheritance or identifying shared chromosomal regions among affected family members. Consequently, some other useful family-based analysis tools, such as imputation, linkage, and association tools, have yet to be integrated and automated. We developed FamPipe, a comprehensive analysis pipeline, which includes several family-specific analysis modules, including the identification of shared chromosomal regions among affected family members, prioritizing variants assuming a disease model, imputation of untyped variants, and linkage and association tests. We used simulation studies to compare properties of some modules implemented in FamPipe, and based on the results, we provided suggestions for the selection of modules to achieve an optimal analysis strategy. The pipeline is under the GNU GPL License and can be downloaded for free at http://fampipe.sourceforge.net. PMID:27272119

  5. FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies

    PubMed Central

    Chung, Ren-Hua; Tsai, Wei-Yun; Kang, Chen-Yu; Yao, Po-Ju; Tsai, Hui-Ju; Chen, Chia-Hsiang

    2016-01-01

    In disease studies, family-based designs have become an attractive approach to analyzing next-generation sequencing (NGS) data for the identification of rare mutations enriched in families. Substantial research effort has been devoted to developing pipelines for automating sequence alignment, variant calling, and annotation. However, fewer pipelines have been designed specifically for disease studies. Most of the current analysis pipelines for family-based disease studies using NGS data focus on a specific function, such as identifying variants with Mendelian inheritance or identifying shared chromosomal regions among affected family members. Consequently, some other useful family-based analysis tools, such as imputation, linkage, and association tools, have yet to be integrated and automated. We developed FamPipe, a comprehensive analysis pipeline, which includes several family-specific analysis modules, including the identification of shared chromosomal regions among affected family members, prioritizing variants assuming a disease model, imputation of untyped variants, and linkage and association tests. We used simulation studies to compare properties of some modules implemented in FamPipe, and based on the results, we provided suggestions for the selection of modules to achieve an optimal analysis strategy. The pipeline is under the GNU GPL License and can be downloaded for free at http://fampipe.sourceforge.net. PMID:27272119

  6. Brain Disease and the Study of Learning Disabilities in the Netherlands (c. 1950-85)

    ERIC Educational Resources Information Center

    Bakker, Nelleke

    2015-01-01

    This paper discusses the role brain disease has played in the discourse and practices of child scientists involved in the study of learning disabilities and behavioural disorders from the 1950s up to the mid-1980s, particularly in the Netherlands as part of a developing international scientific community. In the pre-ADHD era, when child sciences…

  7. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  8. Network-Based Study Reveals Potential Infection Pathways of Hepatitis-C Leading to Various Diseases

    PubMed Central

    Mukhopadhyay, Anirban; Maulik, Ujjwal

    2014-01-01

    Protein-protein interaction network-based study of viral pathogenesis has been gaining popularity among computational biologists in recent days. In the present study we attempt to investigate the possible pathways of hepatitis-C virus (HCV) infection by integrating the HCV-human interaction network, human protein interactome and human genetic disease association network. We have proposed quasi-biclique and quasi-clique mining algorithms to integrate these three networks to identify infection gateway host proteins and possible pathways of HCV pathogenesis leading to various diseases. Integrated study of three networks, namely HCV-human interaction network, human protein interaction network, and human proteins-disease association network reveals potential pathways of infection by the HCV that lead to various diseases including cancers. The gateway proteins have been found to be biologically coherent and have high degrees in human interactome compared to the other virus-targeted proteins. The analyses done in this study provide possible targets for more effective anti-hepatitis-C therapeutic involvement. PMID:24743187

  9. Asbestos-related disease in Bangladeshi ship breakers: a pilot study.

    PubMed

    Courtice, Midori N; Demers, Paul A; Takaro, Tim K; Vedal, Sverre; Ahmad, S K Ahktar; Davies, Hugh W; Siddique, Zakia

    2011-01-01

    A pilot study tested the feasibility of conducting occupational health research in Bangladesh while examining prevalence of asbestos-related diseases including asbestosis, work-related respiratory symptoms, and attitudes to occupational health and safety among a group of internal migrant ship breakers. Data was collected on clinical and work history, respiratory symptoms, and occupational health and safety practices in Bengali. A B-reader read all postero-anterior chest x-rays. In the 104 male ship breakers studied, prevalence of asbestos-related disease was 12%, of which asbestosis accounted for 6%. Knowledge of asbestos and occupational health and safety measures were almost nonexistent. The prevalence of asbestos-related diseases is low compared to studies in shipbuilders and repairers, but a risk underestimate could have resulted from challenges identified during study design and implementation including: industry noncooperation and a culture of corruption; technological and language barriers; and a regional lack of physician knowledge and research on occupational diseases. PMID:21618946

  10. Adipokines as Possible New Predictors of Cardiovascular Diseases: A Case Control Study

    PubMed Central

    Pala, Laura; Monami, Matteo; Ciani, Silvia; Dicembrini, Ilaria; Pasqua, Alessandro; Pezzatini, Anna; Francesconi, Paolo; Cresci, Barbara; Mannucci, Edoardo; Rotella, Carlo Maria

    2012-01-01

    Background and Aims. The secretion of several adipocytokines, such as adiponectin, retinol-binding protein 4 (RBP4), adipocyte fatty acid binding protein (aFABP), and visfatin, is altered in subjects with abdominal adiposity; these endocrine alterations could contribute to increased cardiovascular risk. The aim of the study was to assess the relationship among adiponectin, RBP4, aFABP, and visfatin, and incident cardiovascular disease. Methods and Results. A case-control study, nested within a prospective cohort, on 2945 subjects enrolled for a diabetes screening program was performed. We studied 18 patients with incident fatal or nonfatal IHD (Ischemic Heart Disease) or CVD (Cerebrovascular Disease), compared with 18 matched control subjects. Circulating adiponectin levels were significantly lower in cases of IHD with respect to controls. Circulating RBP4 levels were significantly increased in CVD and decreased in IHD with respect to controls. Circulating aFABP4 levels were significantly increased in CVD, while no difference was associated with IHD. Circulating visfatin levels were significantly lower in cases of both CVD and IHD with respect to controls, while no difference was associated with CVD. Conclusions. The present study confirms that low adiponectin is associated with increased incidents of IHD, but not CVD, and suggests, for the first time, a major effect of visfatin, aFABP, and RBP4 in the development of cardiovascular disease. PMID:21869928

  11. Pathologic studies of fatal cases in outbreak of hand, foot, and mouth disease, Taiwan.

    PubMed Central

    Shieh, W. J.; Jung, S. M.; Hsueh, C.; Kuo, T. T.; Mounts, A.; Parashar, U.; Yang, C. F.; Guarner, J.; Ksiazek, T. G.; Dawson, J.; Goldsmith, C.; Chang, G. J.; Oberste, S. M.; Pallansch, M. A.; Anderson, L. J.; Zaki, S. R.

    2001-01-01

    In 1998, an outbreak of enterovirus 71-associated hand, foot, and mouth disease occurred in Taiwan. Pathologic studies of two fatal cases with similar clinical features revealed two different causative agents, emphasizing the need for postmortem examinations and modern pathologic techniques in an outbreak investigation. PMID:11266307

  12. Adiponectin: an independent risk factor for coronary heart disease in men in the Framingham Offspring Study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Our aim was to determine whether plasma adiponectin levels were an independent predictor of coronary heart disease (CHD) risk. Plasma adiponectin levels were measured in 3,188 male and female participants from cycle 6 of the Framingham Offspring Study (mean age: 57 years in both men and women; BMI:...

  13. Model for Postgraduate Medical Education: Study of Crohn's Disease in New Mexico

    ERIC Educational Resources Information Center

    Gregory, Daniel H.; And Others

    1974-01-01

    The purpose of this study is to introduce a model system for the continuous retrieval, storage, and dissemination of relevant clinical information that has proven to be an effective resource of real-life data. Patients with Crohn's disease from a geographic area served as the population base for 2 groups of physicians, one group practicing in the…

  14. Cardiovascular disease and arsenic exposure in Inner Mongolia, China: a case control study

    EPA Science Inventory

    BACKGROUND: Millions of people are at risk from the adverse effects of arsenic exposure through drinking water. Increasingly, non-cancer effects such as cardiovascular disease have been associated with drinking water arsenic exposures. However, most studies have been conducted in...

  15. Impact of the 2001 Foot-and-Mouth Disease Outbreak in Britain: Implications for Rural Studies

    ERIC Educational Resources Information Center

    Scott, Alister; Christie, Michael; Midmore, Peter

    2004-01-01

    This paper assesses the impact of the 2001 foot-and-mouth disease outbreak in terms of its implications for the discipline of rural studies. In particular, it focuses on the position of agriculture in rural economy and society, the standing of the government after its management of the outbreak, and the performance of the new devolved regional…

  16. Yeast Biocontrol of a Fungal Plant Disease: A Model for Studying Organism Interrelationships

    ERIC Educational Resources Information Center

    Chanchaichaovivat, Arun; Panijpan, Bhinyo; Ruenwongsa, Pintip

    2008-01-01

    An experiment on the action of the yeast, "Saccharomyces cerevisiae", against a fungal plant disease is proposed for secondary students (Grade 11) to support their study of organism interrelationship. This biocontrol experiment serves as the basis for discussing relationships among three organisms (red chilli fruit, "Saccharomyces cerevisiae," and…

  17. Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies.

    PubMed

    Bandelt, Hans-Jürgen; Yao, Yong-Gang; Bravi, Claudio M; Salas, Antonio; Kivisild, Toomas

    2009-03-01

    Sequence analysis of the mitochondrial genome has become a routine method in the study of mitochondrial diseases. Quite often, the sequencing efforts in the search of pathogenic or disease-associated mutations are affected by technical and interpretive problems, caused by sample mix-up, contamination, biochemical problems, incomplete sequencing, misdocumentation and insufficient reference to previously published data. To assess data quality in case studies of mitochondrial diseases, it is recommended to compare any mtDNA sequence under consideration to their phylogenetically closest lineages available in the Web. The median network method has proven useful for visualizing potential problems with the data. We contrast some early reports of complete mtDNA sequences to more recent total mtDNA sequencing efforts in studies of various mitochondrial diseases. We conclude that the quality of complete mtDNA sequences generated in the medical field in the past few years is somewhat unsatisfactory and may even fall behind that of pioneer manual sequencing in the early nineties. Our study provides a paradigm for an a posteriori evaluation of sequence quality and for detection of potential problems with inferring a pathogenic status of a particular mutation. PMID:19322152

  18. Lessons from ecological and spatial studies in relation to occupational lung disease

    PubMed Central

    Hansell, Anna L; Best, Nicky G; Rushton, Lesley

    2016-01-01

    Purpose of review The majority of epidemiological research into occupational lung disease has been advanced by study of individuals, typically in a work place setting. This review examines how recent advances in ecological and spatial study methodology and in the information held in routine databases could be used to enhance occupational health studies. Recent findings Ecological studies often use routinely collected data and this is becoming much more extensive and better validated with potential for increasing use in occupational health research. Improvements in computing power and statistical and geographical information systems (GIS) methodology have led to more sophisticated mapping techniques and greater use of spatial information when investigating lung diseases usually related to occupational exposures. Ecological study methodology is experiencing a radical overhaul with supplementation of group-level data with information from small-scale individual-level studies. This hybrid design can be used to reduce bias and increase power and is directly applicable to enhancement of aggregate information from job exposure matrices (JEMs). Summary Studies of occupational lung disease can be enhanced by incorporating methodological innovations from ecological and spatial studies. PMID:19307881

  19. Genome-wide association study of antibody response to Newcastle disease virus in chicken

    PubMed Central

    2013-01-01

    Background Since the first outbreak in Indonesia in 1926, Newcastle disease has become one of the most common and contagious bird diseases throughout the world. To date, enhancing host antibody response by vaccination remains the most efficient strategy to control outbreaks of Newcastle disease. Antibody response plays an important role in host resistance to Newcastle disease, and selection for antibody response can effectively improve disease resistance in chickens. However, the molecular basis of the variation in antibody response to Newcastle disease virus (NDV) is not clear. The aim of this study was to detect genes modulating antibody response to NDV by a genome-wide association study (GWAS) in chickens. Results To identify genes or chromosomal regions associated with antibody response to NDV after immunization, a GWAS was performed using 39,833 SNP markers in a chicken F2 resource population derived from a cross between two broiler lines that differed in their resistance. Two SNP effects reached 5% Bonferroni genome-wide significance (P<1.26×10-6). These two SNPs, rs15354805 and rs15355555, were both on chicken (Gallus gallus) chromosome 1 and spanned approximately 600 Kb, from 100.4 Mb to 101.0 Mb. Rs15354805 is in intron 7 of the chicken Roundabout, axon guidance receptor, homolog 2 (ROBO2) gene, and rs15355555 is located about 243 Kb upstream of ROBO2. Rs15354805 explained 5% of the phenotypic variation in antibody response to NDV, post immunization, in chickens. Rs15355555 had a similar effect as rs15354805 because of its linkage disequilibrium with rs15354805 (r2=0.98). Conclusion The region at about 100 Mb from the proximal end of chicken chromosome 1, including the ROBO1 and ROBO2 genes, has a strong effect on the antibody response to the NDV in chickens. This study paves the way for further research on the host immune response to NDV. PMID:23663563

  20. A 24-Hour Study of the Hypothalamo-Pituitary Axes in Huntington’s Disease

    PubMed Central

    Nambron, Rajasree; Costelloe, Seán J.; Martin, Nicholas G.; Hill, Nathan R.; Frost, Chris; Watt, Hilary C.; Hindmarsh, Peter; Björkqvist, Maria; Warner, Thomas T.

    2015-01-01

    Background Huntington’s disease is an inherited neurodegenerative disorder characterised by motor, cognitive and psychiatric disturbances. Patients exhibit other symptoms including sleep and mood disturbances, muscle atrophy and weight loss which may be linked to hypothalamic pathology and dysfunction of hypothalamo-pituitary axes. Methods We studied neuroendocrine profiles of corticotropic, somatotropic and gonadotropic hypothalamo-pituitary axes hormones over a 24-hour period in controlled environment in 15 healthy controls, 14 premanifest and 13 stage II/III Huntington’s disease subjects. We also quantified fasting levels of vasopressin, oestradiol, testosterone, dehydroepiandrosterone sulphate, thyroid stimulating hormone, free triiodothyronine, free total thyroxine, prolactin, adrenaline and noradrenaline. Somatotropic axis hormones, growth hormone releasing hormone, insulin-like growth factor-1 and insulin-like factor binding protein-3 were quantified at 06:00 (fasting), 15:00 and 23:00. A battery of clinical tests, including neurological rating and function scales were performed. Results 24-hour concentrations of adrenocorticotropic hormone, cortisol, luteinizing hormone and follicle-stimulating hormone did not differ significantly between the Huntington’s disease group and controls. Daytime growth hormone secretion was similar in control and Huntington’s disease subjects. Stage II/III Huntington’s disease subjects had lower concentration of post-sleep growth hormone pulse and higher insulin-like growth factor-1:growth hormone ratio which did not reach significance. In Huntington’s disease subjects, baseline levels of hypothalamo-pituitary axis hormones measured did not significantly differ from those of healthy controls. Conclusions The relatively small subject group means that the study may not detect subtle perturbations in hormone concentrations. A targeted study of the somatotropic axis in larger cohorts may be warranted. However, the lack

  1. The Burden of Acute Disease in Mahajanga, Madagascar – A 21 Month Study

    PubMed Central

    Kannan, Vijay C.; Andriamalala, Clara N.; Reynolds, Teri A.

    2015-01-01

    Background Efforts to develop effective and regionally-appropriate emergency care systems in sub-Saharan Africa are hindered by a lack of data on both the burden of disease in the region and on the state of existing care delivery mechanisms. This study describes the burden of acute disease presenting to an emergency unit in Mahajanga, Madagascar. Methods and Findings Handwritten patient registries on all emergency department patients presenting between 1 January 2011 and 30 September 2012 were reviewed and data entered into a database. Data included age, sex, diagnosis, and disposition. We classified diagnoses into Clinical Classifications Software (CCS) multi-level categories. The population was 53.5% male, with a median age of 31 years. The five most common presenting conditions were 1) Superficial injury; contusion, 2) Open wounds of head; neck; and trunk, 3) Open wounds of extremities, 4) Intracranial injury, and 5) Unspecified injury and poisoning. Trauma accounted for 48%, Infectious Disease for 15%, Mental Health 6.1%, Noncommunicable 29%, and Neoplasms 1.2%. The acuity seen was high, with an admission rate of 43%. Trauma was the most common reason for admission, representing 19% of admitted patients. Conclusions This study describes the burden of acute disease at a large referral center in northern Madagascar. The Centre Hôpitalier Universitaire de Mahajanga sees a high volume of acutely ill and injured patients. Similar to other reports from the region, trauma is the most common pathology observed, though infectious disease was responsible for the majority of adult mortality. Typhoid fever other intestinal infections were the most lethal CCS-coded pathologies. By utilizing a widely understood classification system, we are able to highlight contrasts between Mahajanga’s acute and overall disease burden as well as make comparisons between this region and the rest of the globe. We hope this study will serve to guide the development of context

  2. Study of Molecular Mechanisms Involved in the Pathogenesis of Immune-Mediated Inflammatory Diseases, using Psoriasis As a Model

    PubMed Central

    Sobolev, V.V.; Abdeev, R.M.; Zolotarenko, A.D.; Nikolaev, A.A.; Sarkisova, M.K.; Sautin, M.E.; Ishkin, A.A.; Piruzyan, An.L.; Ilyina, S.A.; Korsunskaya, I.M.; Rahimova, O.Y.; Bruskin, S.A.

    2009-01-01

    Psoriasis was used as a model to analyze the pathogenetic pathways of immune-mediated inflammatory diseases, and the results of bioinformatic, molecular-genetic and proteomic studies are provided. Cell mechanisms, common for the pathogenesis of psoriasis, as well as Crohn's disease, are identified. New approaches for immune-mediated diseases are discussed. PMID:22649625

  3. Alpha-chain disease with localized plasmacytoma of the intestine. Immunoperoxidase study.

    PubMed Central

    Skinner, J M; Manousos, O N; Economidou, J; Nicolaou, A; Merikas, G

    1976-01-01

    An ileocaecal tumour in a patient with alpha-chain disease in remission was studied immunohistochemically by a quantitive immunoperoxidase method. The tumour which was histologically shown to be a plasmacytoma consisted of 68% alpha cells and 15% lambda cells; no kappa cells were found. Away from the tumour the pattern of immunoglobulin-producing cells was normal. It is concluded that the abnormal cell causing alpha-chain disease remains inactive and that the patient developed a plasmacytoma from a different cell clone. Images Fig. 2 Fig. 3 Fig. 4 PMID:825335

  4. Hypergammaglobulinemia in the pediatric population as a marker for underlying autoimmune disease: a retrospective cohort study

    PubMed Central

    2013-01-01

    Background The significance of hypergammaglobulinemia as a marker of immune activation is unknown, as a differential diagnosis for hypergammaglobulinemia in children has not been adequately established. The goal of this study was to identify conditions associated with hypergammaglobulinemia in children, with the hypothesis that elevated immunoglobulin levels may precede or predict the development of autoimmune conditions. Methods We reviewed the medical records for all children with IgG level ≥2000 mg/dL treated at a tertiary care children’s hospital from January 1, 2000 through December 31, 2009. We compared clinical and laboratory features of these patients, and developed an algorithm to predict the likelihood of underlying autoimmunity based on these characteristics. Results After excluding children who had received IVIG, a total of 442 patients with hypergammaglobulinemia were identified. Of these, nearly half had autoimmune conditions, most frequently systemic lupus erythematosus and lupus-related disorders. Autoimmune gastrointestinal disorders such as inflammatory bowel disease were also common. Infectious diseases were the next largest category of diseases, followed with much less frequency by malignant, drug-related, and other conditions. In comparison with non-autoimmune conditions, patients with autoimmune disease had higher IgG levels, lower white blood cell counts, lower hemoglobin values, and lower C-reactive protein (CRP) levels. Multivariable logistic regression confirmed that CRP (P = 0.002), white blood cell count (P < 0.001), hemoglobin (P = 0.015), and female gender (P < 0.001) are independent risk factors for autoimmune disease in patients with high IgG levels. Conclusions In a cohort of pediatric patients at a tertiary care children’s hospital, hypergammaglobulinemia was most commonly associated with autoimmune diseases. In female patients with hypergammaglobulinemia, the presence of leukopenia, anemia, and normal CRP

  5. Molecular signature of disease onset in granulin mutation carriers: a gene expression analysis study.

    PubMed

    Milanesi, Elena; Bonvicini, Cristian; Alberici, Antonella; Pilotto, Andrea; Cattane, Nadia; Premi, Enrico; Gazzina, Stefano; Archetti, Silvana; Gasparotti, Roberto; Cancelli, Vanessa; Gennarelli, Massimo; Padovani, Alessandro; Borroni, Barbara

    2013-07-01

    Mutations within Granulin (GRN) gene are causative of autosomal dominant frontotemporal lobar degeneration (FTLD). Though GRN mutations are inherited at birth, the disease onset usually occurs in the sixth decade of life. The objective of this study was to identify new genetic pathways linked to inherited GRN disease and involved in the shift from asymptomatic to symptomatic stages. Microarray gene expression analysis on leukocytes was carried out on 15 patients carrying GRN T272SfsX10 mutation, and their asymptomatic siblings with (n = 14) or without (n = 11) GRN mutation. The results were then validated by real-time polymerase chain reaction, and compared with those obtained in a cohort of FTLD without GRN mutation (n = 16). The association between candidate genes and damage of specific brain areas was investigated by voxel-based morphometry on magnetic resonance imaging scans (family-wise error-corrected). Leukocytes mRNA levels of TMEM40 and LY6G6F and other genes mainly involved in inflammation were significantly higher in patients carrying GRN mutations compared with asymptomatic carriers and other FTLD. The higher the levels of TMEM40 the greater is the damage of parietal lobule; the higher the LY6G6F gene expression the greater is the atrophy in superior frontal gyrus. Enhanced inflammation associated with the onset of GRN disease might be either related to disease pathogenetic mechanism leading to neurodegeneration or to a compensatory pathway that counteracts disease progression. The identification of specific molecular targets of GRN-FTLD disease is essential when considering future disease-modifying therapies. PMID:23419701

  6. Alternative projections of mortality and disability by cause 1990-2020: Global Burden of Disease Study.

    PubMed

    Murray, C J; Lopez, A D

    1997-05-24

    As part of the Global Burden of Disease Study, three scenarios of future mortality and disability were identified. The scenarios were based on future health status as a function of projected changes in key socioeconomic variables that influence health status. Regression equations for mortality rates for nine cause-of-death clusters were developed by region based on gross domestic product per person, average number of years of education, time (as a proxy for technological change), and smoking intensity. Life expectancy at birth was projected, in all three scenarios, to increase for women (to about 90 years in established market economies by 2020), with far smaller gains in male life expectancy. Worldwide, annual mortality from communicable maternal, perinatal, and nutritional disorders (group 1 causes) is expected to decline from 17.2 million to 10.3 million in 2020 in the baseline model. Also expected is a very large increase in deaths from non-communicable diseases (group 2 causes) from 28.1 million in 1990 to 49.7 million in 2020. Deaths from injuries (group 3) are projected to increase from 5.1 million to 8.4 million. Diarrheal diseases, perinatal disorders, measles, and malaria are expected to decline dramatically as causes of death in the 1990-2020 period, while lung cancer, stomach cancer, war injuries, liver cancer, and HIV are expected to move up five or more places in the ranking. In 2020, the 10 leading causes of disability-adjusted life-years (in descending order) are projected to be ischemic heart disease, unipolar major depression, road traffic accidents, cerebrovascular disease, chronic obstructive pulmonary disease, lower respiratory infections, tuberculosis, war injuries, diarrheal diseases, and HIV. Tobacco-attributable mortality is projected to increase from 3.0 million in 1990 to 8.4 million in 2020 (9% of the worldwide mortality burden). PMID:9167458

  7. The Peripheral Arterial disease study (PERART/ARTPER): prevalence and risk factors in the general population

    PubMed Central

    2010-01-01

    Background The early diagnosis of atherosclerotic disease is essential for developing preventive strategies in populations at high risk and acting when the disease is still asymptomatic. A low ankle-arm index is a good marker of vascular events and may be diminished without presenting symptomatology (silent peripheral arterial disease). The aim of the study is to know the prevalence and associated risk factors of peripheral arterial disease in the general population. Methods We performed a cross-sectional, multicentre, population-based study in 3786 individuals >49 years, randomly selected in 28 primary care centres in Barcelona (Spain). Peripheral arterial disease was evaluated using the ankle-arm index. Values < 0.9 were considered as peripheral arterial disease. Results The prevalence (95% confidence interval) of peripheral arterial disease was 7.6% (6.7-8.4), (males 10.2% (9.2-11.2), females 5.3% (4.6-6.0); p < 0.001). Multivariate analysis showed the following risk factors: male sex [odds ratio (OR) 1.62; 95% confidence interval 1.01-2.59]; age OR 2.00 per 10 years (1.64-2.44); inability to perform physical activity [OR 1.77 (1.17-2.68) for mild limitation to OR 7.08 (2.61-19.16) for breathless performing any activity]; smoking [OR 2.19 (1.34-3.58) for former smokers and OR 3.83 (2.23-6.58) for current smokers]; hypertension OR 1.85 (1.29-2.65); diabetes OR 2.01 (1.42-2.83); previous cardiovascular disease OR 2.19 (1.52-3.15); hypercholesterolemia OR 1.55 (1.11-2.18); hypertriglyceridemia OR 1.55 (1.10-2.19). Body mass index ≥25 Kg/m2 OR 0.57 (0.38-0.87) and walking >7 hours/week OR 0.67 (0.49-0.94) were found as protector factors. Conclusions The prevalence of peripheral arterial disease is low, higher in males and increases with age in both sexes. In addition to previously described risk factors we found a protector effect in physical exercise and overweight. PMID:20529387

  8. Clinical features of Crohn disease concomitant with ankylosing spondylitis: A preliminary single-center study.

    PubMed

    Liu, Song; Ding, Jie; Wang, Meng; Zhou, Wanqing; Feng, Min; Guan, Wenxian

    2016-07-01

    Extraintestinal manifestations (EIMs) cause increased morbidity and decreased quality of life in Crohn disease (CD). Ankylosing spondylitis (AS) belongs to EIMs. Very little is known on the clinical features of CD concomitant with AS. This study is to investigate the clinical features of CD patients with AS.We retrospectively collected all CD patients with AS in our hospital, and established a comparison group (CD without AS) with age, sex, and duration of Crohn disease matched. Clinical information was retrieved for comparison.Eight CD + AS patients were identified from 195 CD patients. Sixteen CD patients were randomly selected into comparison group. All CD + AS patients were male, HLA-B27 (+), and rheumatoid factor (-) with an average age of 40.8 ± 4.52 years. Significant correlation between disease activity of CD and AS was revealed (r = 0.857, P = 0.011). Significant correlation between disease activity of CD and functional limitation associated with AS was identified (r = 0.881, P < 0.01). C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and globulin were positively correlated to Crohn disease activity index (CDAI), Bath AS disease activity index, and Bath AS functional index(BASFI) scores (r = 0.73-0.93, P < 0.05). Albumin was negatively associated with CDAI and BASFI (r = -0.73 to -0.91, P < 0.05). The ratio of albumin to globulin (Alb/Glo) was significantly related to all 3 scores (r = -0.81 to -0.91, P < 0.05).Male predominance with a 4.12% concomitant incidence of AS is observed in CD patients. Disease activity of CD correlates with disease activity of AS and functional limitation caused by AS. CRP, ESR, and Alb/Glo may serve as biomarkers for disease activity and functional limitation in CD patients concomitant with AS, although future studies are expected. PMID:27428240

  9. The Cohort for Childhood Origin of Asthma and allergic diseases (COCOA) study: design, rationale and methods

    PubMed Central

    2014-01-01

    Background This paper describes the background, aim, and design of a prospective birth-cohort study in Korea called the COhort for Childhood Origin of Asthma and allergic diseases (COCOA). COCOA objectives are to investigate the individual and interactive effects of genetics, perinatal environment, maternal lifestyle, and psychosocial stress of mother and child on pediatric susceptibility to allergic diseases. Methods/Design The participants in COCOA represents a Korean inner-city population. Recruitment started on 19 November, 2007 and will continue until 31 December, 2015. Recruitment is performed at five medical centers and eight public-health centers for antenatal care located in Seoul. Participating mother-baby pairs are followed from before birth to adolescents. COCOA investigates whether the following five environmental variables contribute causally to the development and natural course of allergic diseases: (1) perinatal indoor factors (i.e. house-dust mite, bacterial endotoxin, tobacco smoking, and particulate matters 2.5 and 10), (2) perinatal outdoor pollutants, (3) maternal prenatal psychosocial stress and the child’s neurodevelopment, (4) perinatal nutrition, and (5) perinatal microbiome. Cord blood and blood samples from the child are used to assess whether the child’s genes and epigenetic changes influence allergic-disease susceptibility. Thus, COCOA aims to investigate the contributions of genetics, epigenetics, and various environmental factors in early life to allergic-disease susceptibility in later life. How these variables interact to shape allergic-disease susceptibility is also a key aim. The COCOA data collection schedule includes 11 routine standardized follow-up assessments of all children at 6 months and every year until 10 years of age, regardless of allergic-disease development. The mothers will complete multiple questionnaires to assess the baseline characteristics, the child’s exposure to environmental factors, maternal pre

  10. Multi-Target Strategy and Experimental Studies of Traditional Chinese Medicine for Alzheimer's Disease Therapy.

    PubMed

    Li, Lin; Zhang, Lan; Yang, Cui-cui

    2016-01-01

    Alzheimer's disease (AD) is a multifactorial complex disease. The pathogenesis of AD is very complicated, and involves the β-amyloid (Aβ) cascade, tau hyperphosphorylation, neuroinflammation, oxidative stress, mitochondrial dysfunction, reduced levels of neurotrophic factors, and damage and loss of synapses as well as cholinergic neurons. The multi-target characteristics of traditional Chinese medicine (TCM) may be advantageous over single-target drugs in the treatment of complex diseases. These drugs have therefore attracted more attention in the research and development of AD therapies. This review describes advances made in experimental studies of TCM for AD treatment. It discusses research, from our group and other laboratories, on TCM compound drugs (Shenwu capsule) and approximately 10 Chinese medicinal herb extracts (tetrahydroxystilbene glucoside, epimedium flavonoid, icariin, cornel iridoid glycoside, ginsenoside, puerarin, clausenamide, huperzine A, and timosaponins). PMID:26268330

  11. Long non-coding RNAs: a new frontier in the study of human diseases.

    PubMed

    Shi, Xuefei; Sun, Ming; Liu, Hongbing; Yao, Yanwen; Song, Yong

    2013-10-10

    With the development of whole genome and transcriptome sequencing technologies, long noncoding RNAs (lncRNAs) have received increased attention. Multiple studies indicate that lncRNAs act not only as the intermediary between DNA and protein but also as important protagonists of cellular functions. LncRNAs can regulate gene expression in many ways, including chromosome remodeling, transcription and post-transcriptional processing. Moreover, the dysregulation of lncRNAs has increasingly been linked to many human diseases, especially in cancers. Here, we reviewed the rapidly advancing field of lncRNAs and described the relationship between the dysregulation of lncRNAs and human diseases, highlighting the specific roles of lncRNAs in human diseases. PMID:23791884

  12. The Rabbit as a Model for Studying Lung Disease and Stem Cell Therapy

    PubMed Central

    Kamaruzaman, Nurfatin Asyikhin; Kamaldin, Nurulain ‘Atikah; Latahir, Ahmad Zaeri; Yahaya, Badrul Hisham

    2013-01-01

    No single animal model can reproduce all of the human features of both acute and chronic lung diseases. However, the rabbit is a reliable model and clinically relevant facsimile of human disease. The similarities between rabbits and humans in terms of airway anatomy and responses to inflammatory mediators highlight the value of this species in the investigation of lung disease pathophysiology and in the development of therapeutic agents. The inflammatory responses shown by the rabbit model, especially in the case of asthma, are comparable with those that occur in humans. The allergic rabbit model has been used extensively in drug screening tests, and this model and humans appear to be sensitive to similar drugs. In addition, recent studies have shown that the rabbit serves as a good platform for cell delivery for the purpose of stem-cell-based therapy. PMID:23653896

  13. Influence of Obesity and Metabolic Disease on Carotid Atherosclerosis in Patients with Coronary Artery Disease (CordioPrev Study)

    PubMed Central

    Garcia-Rios, Antonio; Delgado-Casado, Nieves; Gomez-Luna, Purificacion; Gomez-Garduño, Angela; Gomez-Delgado, Francisco; Alcala-Diaz, Juan F.; Yubero-Serrano, Elena; Marin, Carmen; Perez-Caballero, Ana I.; Fuentes-Jimenez, Francisco J.; Camargo, Antonio; Rodriguez-Cantalejo, Fernando; Tinahones, Francisco J.; Ordovas, Jose M.; Perez- Jimenez, Francisco; Perez-Martinez, Pablo; Lopez-Miranda, Jose

    2016-01-01

    Background Recent data suggest that the presence of associated metabolic abnormalities may be important modifiers of the association of obesity with a poorer prognosis in coronary heart disease. We determined the influence of isolated overweight and obesity on carotid intima media thickness (IMT-CC), and also assessed whether this influence was determined by the presence of metabolic abnormalities. Methods 1002 participants from the CordioPrev study were studied at entry. We determined their metabolic phenotypes and performed carotid ultrasound assessment. We evaluated the influence of obesity, overweight and metabolic phenotypes on the IMT-CC. Results Metabolically sick participants (defined by the presence of two or more metabolic abnormalities) showed a greater IMT-CC than metabolically healthy individuals (p = 4 * 10−6). Overweight and normal weight patients who were metabolically healthy showed a lower IMT-CC than the metabolically abnormal groups (all p<0.05). When we evaluated only body weight (without considering metabolic phenotypes), overweight or obese patients did not differ significantly from normal-weight patients in their IMT-CC (p = 0.077). However, obesity was a determinant of IMT-CC when compared to the composite group of normal weight and overweight patients (all not obese). Conclusions In coronary patients, a metabolically abnormal phenotype is associated with a greater IMT-CC, and may be linked to a higher risk of suffering new cardiovascular events. The protection conferred in the IMT-CC by the absence of metabolic abnormality may be blunted by the presence of obesity. Trial Registration ClinicalTrials.gov NCT00924937 PMID:27064675

  14. The Central Biobank and Virtual Biobank of BIOMARKAPD: A Resource for Studies on Neurodegenerative Diseases.

    PubMed

    Reijs, Babette L R; Teunissen, Charlotte E; Goncharenko, Nikolai; Betsou, Fay; Blennow, Kaj; Baldeiras, Inês; Brosseron, Frederic; Cavedo, Enrica; Fladby, Tormod; Froelich, Lutz; Gabryelewicz, Tomasz; Gurvit, Hakan; Kapaki, Elisabeth; Koson, Peter; Kulic, Luka; Lehmann, Sylvain; Lewczuk, Piotr; Lleó, Alberto; Maetzler, Walter; de Mendonça, Alexandre; Miller, Anne-Marie; Molinuevo, José L; Mollenhauer, Brit; Parnetti, Lucilla; Rot, Uros; Schneider, Anja; Simonsen, Anja Hviid; Tagliavini, Fabrizio; Tsolaki, Magda; Verbeek, Marcel M; Verhey, Frans R J; Zboch, Marzena; Winblad, Bengt; Scheltens, Philip; Zetterberg, Henrik; Visser, Pieter Jelle

    2015-01-01

    Biobanks are important resources for biomarker discovery and assay development. Biomarkers for Alzheimer's and Parkinson's disease (BIOMARKAPD) is a European multicenter study, funded by the EU Joint Programme-Neurodegenerative Disease Research, which aims to improve the clinical use of body fluid markers for the diagnosis and prognosis of Alzheimer's disease (AD) and Parkinson's disease (PD). The objective was to standardize the assessment of existing assays and to validate novel fluid biomarkers for AD and PD. To support the validation of novel biomarkers and assays, a central and a virtual biobank for body fluids and associated data from subjects with neurodegenerative diseases have been established. In the central biobank, cerebrospinal fluid (CSF) and blood samples were collected according to the BIOMARKAPD standardized pre-analytical procedures and stored at Integrated BioBank of Luxembourg. The virtual biobank provides an overview of available CSF, plasma, serum, and DNA samples at each site. Currently, at the central biobank of BIOMARKAPD samples are available from over 400 subjects with normal cognition, mild cognitive impairment (MCI), AD, frontotemporal dementia (FTD), vascular dementia, multiple system atrophy, progressive supranuclear palsy, PD, PD with dementia, and dementia with Lewy bodies. The virtual biobank contains information on over 8,600 subjects with varying diagnoses from 21 local biobanks. A website has been launched to enable sample requests from the central biobank and virtual biobank. PMID:26528237

  15. Complaints of Sleep Disturbances Are Associated with Cardiovascular Disease: Results from the Gutenberg Health Study

    PubMed Central

    Michal, Matthias; Wiltink, Jörg; Kirschner, Yvonne; Schneider, Astrid; Wild, Philipp S.; Münzel, Thomas; Blettner, Maria; Schulz, Andreas; Lackner, Karl; Pfeiffer, Norbert; Blankenberg, Stefan; Tschan, Regine; Tuin, Inka; Beutel, Manfred E.

    2014-01-01

    Background Despite their high prevalence, sleep disorders often remain unrecognized and untreated because of barriers to assessment and management. The aims of the present study were to examine associations of complaints of sleep disturbances with cardiovascular disease, related risk factors, and inflammation in the community and to determine the contribution of sleep disturbances to self-perceived physical health. Method The sample consists of n = 10.000 participants, aged 35 to 74 years of a population based community sample in Germany. Cross-sectional associations of complaints of sleep disturbances with cardiovascular risk factors and disease, biomarkers of inflammation, depression, anxiety, and physical health status were analyzed. Results 19% of our sample endorsed clinically significant sleep disturbances. In the unadjusted analyses severity of sleep disturbances increased with female sex, low socioeconomic status, living without a partnership, cardiovascular disease, depression, anxiety, poor physical health, increased levels of C-reactive protein and fibrinogen. After multivariate adjustment robust associations with coronary heart disease, myocardial infarction and dyslipidemia remained. Complaints of sleep disturbances were strong and independent contributors to self-perceived poor physical health beyond depression, anxiety and medical disease burden. Conclusions Given the high prevalence of complaints of sleep disturbances and their strong impact on health status, increased efforts should be undertaken for their identification and treatment. PMID:25093413

  16. Oral and dental health in Huntington‘s disease - an observational study

    PubMed Central

    2013-01-01

    Background Only a few case reports and case series dealing with oral and dental health care are available in literature until now. The aim of the present pilot study was to determine the status of dental health in comparison to matched controls and to heighten the neurologists’ and dentists’ awareness of the oral aspects of the disease. Methods 42 Huntington’s disease (HD) participants were scored according to the Unified Huntington’s Disease Rating Scale. The dental status was assessed by using the well established score for decayed, missing, and filled teeth (DMFT) and the dental plaque score (Silness-Loe plaque index). Results Compared to controls HD participants showed significantly more decayed teeth and more plaques in both plaque indices. A higher motor impairment and a lower functional status of the patients lead to a worsening in dental status. Conclusion Possible reasons for our findings are discussed. Apart from local oral complications general complications may also occur. Thus, as a consequence, we would encourage patients, caregivers, neurologists, and the dentists to ensure regular preventive dental examinations and dental treatments of individuals with Huntington’s disease even in the premanifest stage of this disease. PMID:24138900

  17. A journey of hope: lessons learned from studies on rare diseases and orphan drugs.

    PubMed

    Wästfelt, M; Fadeel, B; Henter, J-I

    2006-07-01

    Rare diseases are frequently life-threatening or chronically debilitating and the impact on the quality of life of affected patients and their family members is thus significant. However, drug development for these conditions has been limited by a lack of understanding of the underlying mechanisms of disease and the relative unavailability of subjects for clinical trials, as well as the prohibitive cost of investing in a novel pharmaceutical agent with poor market potential. Nevertheless, the introduction of Orphan Drug legislations has provided important incentives for the development of orphan drugs (i.e. drugs that have been abandoned or 'orphaned' by major drug companies). Moreover, recent studies on rare diseases, including inherited immunodeficiencies and metabolic disorders, have served not only to alleviate the plight of patients with rare diseases, but also yielded valuable information on biological processes of relevance for other, more common conditions. These lessons, along with the crucial importance of cooperation between academic institutions, pharmaceutical companies, patient advocacy groups and society in the elucidation of rare diseases, are highlighted in the present review. PMID:16789973

  18. A prospective study of cutaneous abnormalities in patients with chronic kidney disease

    PubMed Central

    Thomas, E. A.; Pawar, B.; Thomas, A.

    2012-01-01

    There are diverse ways in which the skin is affected by chronic kidney disease (CKD). Various specific and nonspecific skin abnormalities are observed in patients with CKD. The aim of the study was to document the prevalence of skin diseases that commonly occur in patients with CKD on medical treatment and dialysis. A total of 99 patients with CKD were examined for evidence of skin diseases. Ninety-six had at least one cutaneous abnormality attributable to CKD. The most prevalent finding was xerosis (66.7%), followed by pallor (45.45%), pruritus (43.4%), and cutaneous pigmentation (32.3%). Other cutaneous manifestations included dermatitis (27.27%); Kyrle's disease (17.17%); fungal (8.08%), bacterial (11.1%), and viral (5.05%) infections; purpura (10.1%); gynecomastia (4.04%); and yellow skin (5.05%). The common nail changes were half and half nails (36.36%) and onycholysis (13.13%). CKD is associated with various cutaneous abnormalities caused either by the disease or by treatment, the most common being xerosis and pruritus. The dermatologic complications can significantly impair the quality of life in certain individuals; therefore, earlier diagnosis and treatment is important to improve their quality of life. PMID:22787313

  19. Epidemiology of Major Neurodegenerative Diseases in Women: Contribution of the Nurses’ Health Study

    PubMed Central

    Munger, Kassandra L.; Ascherio, Alberto; Grodstein, Francine

    2016-01-01

    Objectives. To review the contribution of the Nurses’ Health Study (NHS) to identifying the role of lifestyle, diet, and genetic or biological factors in several neurodegenerative diseases, including cognitive decline, multiple sclerosis, Parkinson’s disease, and amyotrophic lateral sclerosis. Methods. We completed a narrative review of the publications of the NHS and NHS II between 1976 and 2016. Results. In primary findings for cognitive function, higher intake of nuts, moderate alcohol consumption, and higher physical activity levels were associated with better cognitive function. Flavonoids, physical activity, and postmenopausal hormone therapy were related to cognitive decline over 2 to 6 years. The NHS also has been integral in establishing Epstein-Barr virus infection, inadequate vitamin D nutrition, cigarette smoking, and obesity as risk factors for multiple sclerosis and inverse associations between cigarette smoking and caffeine and risk of Parkinson’s disease. Increased risk of amyotrophic lateral sclerosis has been associated with cigarette smoking and decreased risk associated with obesity. Conclusions. The NHS has provided invaluable resources on neurodegenerative diseases and contributed to their etiological understanding. We anticipate that the NHS cohorts will continue to make important contributions to the field of neurodegenerative diseases. PMID:27459462

  20. Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

    PubMed Central

    Smedley, Damian; Köhler, Sebastian; Czeschik, Johanna Christina; Amberger, Joanna; Bocchini, Carol; Hamosh, Ada; Veldboer, Julian; Zemojtel, Tomasz; Robinson, Peter N.

    2014-01-01

    Motivation: Whole-exome sequencing (WES) has opened up previously unheard of possibilities for identifying novel disease genes in Mendelian disorders, only about half of which have been elucidated to date. However, interpretation of WES data remains challenging. Results: Here, we analyze protein–protein association (PPA) networks to identify candidate genes in the vicinity of genes previously implicated in a disease. The analysis, using a random-walk with restart (RWR) method, is adapted to the setting of WES by developing a composite variant-gene relevance score based on the rarity, location and predicted pathogenicity of variants and the RWR evaluation of genes harboring the variants. Benchmarking using known disease variants from 88 disease-gene families reveals that the correct gene is ranked among the top 10 candidates in ≥50% of cases, a figure which we confirmed using a prospective study of disease genes identified in 2012 and PPA data produced before that date. We implement our method in a freely available Web server, ExomeWalker, that displays a ranked list of candidates together with information on PPAs, frequency and predicted pathogenicity of the variants to allow quick and effective searches for candidates that are likely to reward closer investigation. Availability and implementation: http://compbio.charite.de/ExomeWalker Contact: peter.robinson@charite.de PMID:25078397

  1. The Central Biobank and Virtual Biobank of BIOMARKAPD: A Resource for Studies on Neurodegenerative Diseases

    PubMed Central

    Reijs, Babette L. R.; Teunissen, Charlotte E.; Goncharenko, Nikolai; Betsou, Fay; Blennow, Kaj; Baldeiras, Inês; Brosseron, Frederic; Cavedo, Enrica; Fladby, Tormod; Froelich, Lutz; Gabryelewicz, Tomasz; Gurvit, Hakan; Kapaki, Elisabeth; Koson, Peter; Kulic, Luka; Lehmann, Sylvain; Lewczuk, Piotr; Lleó, Alberto; Maetzler, Walter; de Mendonça, Alexandre; Miller, Anne-Marie; Molinuevo, José L.; Mollenhauer, Brit; Parnetti, Lucilla; Rot, Uros; Schneider, Anja; Simonsen, Anja Hviid; Tagliavini, Fabrizio; Tsolaki, Magda; Verbeek, Marcel M.; Verhey, Frans R. J.; Zboch, Marzena; Winblad, Bengt; Scheltens, Philip; Zetterberg, Henrik; Visser, Pieter Jelle

    2015-01-01

    Biobanks are important resources for biomarker discovery and assay development. Biomarkers for Alzheimer’s and Parkinson’s disease (BIOMARKAPD) is a European multicenter study, funded by the EU Joint Programme-Neurodegenerative Disease Research, which aims to improve the clinical use of body fluid markers for the diagnosis and prognosis of Alzheimer’s disease (AD) and Parkinson’s disease (PD). The objective was to standardize the assessment of existing assays and to validate novel fluid biomarkers for AD and PD. To support the validation of novel biomarkers and assays, a central and a virtual biobank for body fluids and associated data from subjects with neurodegenerative diseases have been established. In the central biobank, cerebrospinal fluid (CSF) and blood samples were collected according to the BIOMARKAPD standardized pre-analytical procedures and stored at Integrated BioBank of Luxembourg. The virtual biobank provides an overview of available CSF, plasma, serum, and DNA samples at each site. Currently, at the central biobank of BIOMARKAPD samples are available from over 400 subjects with normal cognition, mild cognitive impairment (MCI), AD, frontotemporal dementia (FTD), vascular dementia, multiple system atrophy, progressive supranuclear palsy, PD, PD with dementia, and dementia with Lewy bodies. The virtual biobank contains information on over 8,600 subjects with varying diagnoses from 21 local biobanks. A website has been launched to enable sample requests from the central biobank and virtual biobank. PMID:26528237

  2. Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases

    PubMed Central

    Dumas-Mallet, Estelle; Button, Katherine; Boraud, Thomas; Munafo, Marcus; Gonon, François

    2016-01-01

    Context There are growing concerns about effect size inflation and replication validity of association studies, but few observational investigations have explored the extent of these problems. Objective Using meta-analyses to measure the reliability of initial studies and explore whether this varies across biomedical domains and study types (cognitive/behavioral, brain imaging, genetic and “others”). Methods We analyzed 663 meta-analyses describing associations between markers or risk factors and 12 pathologies within three biomedical domains (psychiatry, neurology and four somatic diseases). We collected the effect size, sample size, publication year and Impact Factor of initial studies, largest studies (i.e., with the largest sample size) and the corresponding meta-analyses. Initial studies were considered as replicated if they were in nominal agreement with meta-analyses and if their effect size inflation was below 100%. Results Nominal agreement between initial studies and meta-analyses regarding the presence of a significant effect was not better than chance in psychiatry, whereas it was somewhat better in neurology and somatic diseases. Whereas effect sizes reported by largest studies and meta-analyses were similar, most of those reported by initial studies were inflated. Among the 256 initial studies reporting a significant effect (p<0.05) and paired with significant meta-analyses, 97 effect sizes were inflated by more than 100%. Nominal agreement and effect size inflation varied with the biomedical domain and study type. Indeed, the replication rate of initial studies reporting a significant effect ranged from 6.3% for genetic studies in psychiatry to 86.4% for cognitive/behavioral studies. Comparison between eight subgroups shows that replication rate decreases with sample size and “true” effect size. We observed no evidence of association between replication rate and publication year or Impact Factor. Conclusion The differences in reliability

  3. Non-interventional study evaluating efficacy and tolerability of rifaximin for treatment of uncomplicated diverticular disease.

    PubMed

    Stallinger, Sylvia; Eller, Norbert; Högenauer, Christoph

    2014-01-01

    Patients with symptomatic uncomplicated diverticular disease represent a spectrum of patients who report recurrent abdominal symptoms, however are lacking substantial colonic inflammation in contrast to patients with acute diverticulitis. This non-interventional study investigated the efficacy and tolerability of rifaximin, a broad-spectrum poorly absorbable antibiotic, in cyclic treatment of these patients. Adult patients with uncomplicated diverticular disease in care of physicians in private practice intended to be treated with rifaximin were included. Patients with acute diverticulitis and symptoms suggestive of more severe intestinal inflammation were excluded. Data of 1,003 patients treated in cycles of 7-10 days per month over a period of 3 months were evaluated. In total, 75 % of patients had more than three episodes of symptoms in the last year before inclusion in the study. However, two-third of patients did not receive any treatment before. Over the 3-month treatment period with rifaximin, all assessed symptoms of diverticular disease, such as abdominal pain, diarrhoea and flatulence, improved significantly. There was an overall good compliance to the scheme of cyclic drug administration of rifaximin. During the study, 24 adverse events in 20 patients were recorded, of which 6 adverse events showed a causal relationship to the use of rifaximin (0.6 %). We conclude that cyclic rifaximin shows good clinical efficacy and tolerability in patients with symptomatic uncomplicated diverticular disease treated in a routine private practice outpatient setting. PMID:24240607

  4. CD209 in inflammatory bowel disease: a case-control study in the Spanish population

    PubMed Central

    Núñez, Concepción; Oliver, Javier; Mendoza, Juan Luis; Gómez-García, María; Taxonera, Carlos; Gómez, Luis M; López-Nevot, Miguel A; de la Concha, Emilio G; Urcelay, Elena; Martínez, Alfonso; Martín, Javier

    2007-01-01

    Background The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, the genetics underlying these diseases is complex and new candidates are continuously emerging. The CD209 gene is located in a region linked previously to IBD and a CD209 functional polymorphism (rs4804803) has been associated to other inflammatory conditions. Our aim was to study the potential involvement of this CD209 variant in IBD susceptibility. Methods We performed a case-control study with 515 CD patients, 497 UC patients and 731 healthy controls, all of them white Spaniards. Samples were typed for the CD209 single nucleotide polymorphism (SNP) rs4804803 by TaqMan technology. Frequency comparisons were performed using χ2 tests. Results No association between CD209 and UC or CD was observed initially. However, stratification of UC patients by HLA-DR3 status, a strong protective allele, showed that carriage of the CD209_G allele could increase susceptibility in the subgroup of HLA-DR3-positive individuals (p = 0.03 OR = 1.77 95% CI 1.04–3.02, vs. controls). Conclusion A functional variant in the CD209 gene, rs4804803, does not seem to be influencing Crohn's disease susceptibility. However, it could be involved in the etiology or pathology of Ulcerative Colitis in HLA-DR3-positive individuals but further studies are necessary. PMID:18070336

  5. The influence of the young microbiome on inflammatory diseases--Lessons from animal studies.

    PubMed

    Bendtsen, Katja M; Fisker, Line; Hansen, Axel K; Hansen, Camilla H F; Nielsen, Dennis S

    2015-12-01

    Chronic inflammatory diseases are on the rise in the Westernized world. This rise has been correlated to a range of environmental factors, such as birth mode, rural versus urban living conditions, and use of antibiotics. Such environmental factors also influence early life gut microbiota (GM) colonization and maturation--and there is growing evidence that the negative effects of these factors on human health are mediated via GM alterations. Colonization of the gut initiates priming of the immune system from birth, driving tolerance towards non-harmful microorganisms and dietary antigens and proper reactions towards invading pathogens. This early colonization is crucial for the establishment of a healthy GM, and throughout life the balanced interaction of GM and immune system is a key element in maintaining health. An immune system out of balance increases the risk for later life inflammatory diseases. Animal models are indispensable in the studies of GM influence on disease mechanisms and progression, and focus points include studies of GM modification during pregnancy and perinatal life. Here, we present an overview of animal studies which have contributed to our understanding of GM functions in early life and how alterations affect risk and expression of certain inflammatory diseases with juvenile onset, including interventions, such as birth mode, antibiotics, and probiotics. PMID:26663871

  6. Outdoor Air Pollution and Cardiovascular Diseases in Lebanon: A Case-Control Study

    PubMed Central

    Nasser, Zeina; Salameh, Pascale; Dakik, Habib; Elias, Elias; Abou Abbas, Linda; Levêque, Alain

    2015-01-01

    Outdoor air pollution is increasingly considered as a serious threat for cardiovascular diseases (CVD). The aim of this study is to investigate the association between outdoor pollutants and cardiovascular diseases among adults in Lebanon and to examine the possible moderator effect of cigarette smoking status on this association. A multicenter case-control study was conducted between October 2011 and October 2012. Cases were hospitalized patients diagnosed with CVD by a cardiologist while the control group subjects were free of any cardiac diseases. Information on sociodemographic characteristics, tobacco consumption, self-rated global health, pollution exposure, and other risk factors was collected using a questionnaire. The results of the logistic regression revealed that living near busy highway (OR 5.04, 95% CI (4.44–12.85), P < 0.001) and close to local diesel generator (OR 4.76, 95% CI (2.07–10.91), P < 0.001) was significantly associated with CVD. The association between the CVD and exposure to outside pollutants differed by cigarette smoking status. A clear difference was noted between nonsmokers and current smokers OR 4.6, 95% CI (1.10–19.25) and OR 10.11, 95% CI (7.33–20.23), respectively. Forthcoming studies are needed to clarify the potential link between outdoor air pollution and cardiovascular diseases in Lebanon. Public health interventions must be implemented to reduce air pollution and to improve air quality. PMID:25653681

  7. Outdoor air pollution and cardiovascular diseases in Lebanon: a case-control study.

    PubMed

    Nasser, Zeina; Salameh, Pascale; Dakik, Habib; Elias, Elias; Abou Abbas, Linda; Levêque, Alain

    2015-01-01

    Outdoor air pollution is increasingly considered as a serious threat for cardiovascular diseases (CVD). The aim of this study is to investigate the association between outdoor pollutants and cardiovascular diseases among adults in Lebanon and to examine the possible moderator effect of cigarette smoking status on this association. A multicenter case-control study was conducted between October 2011 and October 2012. Cases were hospitalized patients diagnosed with CVD by a cardiologist while the control group subjects were free of any cardiac diseases. Information on sociodemographic characteristics, tobacco consumption, self-rated global health, pollution exposure, and other risk factors was collected using a questionnaire. The results of the logistic regression revealed that living near busy highway (OR 5.04, 95% CI (4.44-12.85), P < 0.001) and close to local diesel generator (OR 4.76, 95% CI (2.07-10.91), P < 0.001) was significantly associated with CVD. The association between the CVD and exposure to outside pollutants differed by cigarette smoking status. A clear difference was noted between nonsmokers and current smokers OR 4.6, 95% CI (1.10-19.25) and OR 10.11, 95% CI (7.33-20.23), respectively. Forthcoming studies are needed to clarify the potential link between outdoor air pollution and cardiovascular diseases in Lebanon. Public health interventions must be implemented to reduce air pollution and to improve air quality. PMID:25653681

  8. Immunohistochemical Detection of Markers for Translational Studies of Lung Disease in Pigs and Humans.

    PubMed

    Meyerholz, David K; Lambertz, Allyn M; Reznikov, Leah R; Ofori-Amanfo, Georgina K; Karp, Phil H; McCray, Paul B; Welsh, Michael J; Stoltz, David A

    2016-04-01

    Genetically engineered pigs are increasingly recognized as valuable models for the study of human disease. Immunohistochemical study of cellular markers of disease is an important tool for the investigation of these novel models so as to evaluate genotype and treatment differences. Even so, there remains a lack of validated markers for pig tissues that can serve as a translational link to human disease in organs such as the lung. Herein, we evaluate markers of cellular inflammation (cluster of differentiation [CD]3, CD79a, B cell lymphoma [BCL] 6, ionized calcium-binding adapter molecule [IBA]1, and myeloperoxidase) and those that may be involved with tissue remodeling (alpha-smooth muscle actin, beta-tubulin-III, lactoferrin, mucin [MUC]5AC, MUC5B, and cystic fibrosis transmembrane conductance regulator [CFTR]) for study of lung tissues. We compare the utility of these markers between pig and human lungs to validate translational relevance of each marker. Our results suggest these markers can be a useful addition in the pathological evaluation of porcine models of human disease. PMID:26511846

  9. Fluorescence endoscopic imaging study of anastomotic recurrence of Crohn's disease after right ileocolonic resection

    NASA Astrophysics Data System (ADS)

    Mordon, Serge R.; Maunoury, Vincent; Klein, Olivier; Colombel, Jean-Frederic

    1995-12-01

    Crohn's disease is an inflammatory bowel disease of unknown etiology. Vasculitis is hypothesized but it was never demonstrated in vivo. This study aimed to evaluate the vascular mucosa perfusion using fluorescence imaging in 13 patients who had previously undergone eileocolonic resection and who agreed to participate in a prospective endoscopic study of anastomotic recurrence. This anastomotic recurrence rate is known to be high (73% after 1 year follow-up) and is characterized by ulcerations. The fluorescence study was started with an I.V. bolus injection of sodium fluorescein. The pre-anastomotic mucosa was endoscopically examined with blue light that stimulates fluorescein fluorescence. Fluorescence emission was recorded with an ultra-high-sensitivity camera connected to the endoscope via an interference filter (520 - 560 nm). A uniform fluorescence was observed a few seconds after the injection and lasted for 15 min in healthy subjects. In case of recurrence, the centers of the ulcerations displayed a very low fluorescence indicating localized ischemia. In contrast, the rims of the ulcers revealed brighter fluorescent images than those of normal mucosa. The anastomotic ulcerations of Crohn's disease recurrence exhibit a high fluorescence intensity at their margins indicating an increased mucosal blood flow and/or enhanced transcapillary diffusion. These findings support the hypothesis of a primary vasculitis in Crohn's disease.

  10. Robot-assisted arm training in patients with Parkinson’s disease: a pilot study

    PubMed Central

    2014-01-01

    Background Despite the growing diffusion of robotic devices in neurorehabilitation, no previous study investigated the effects of robotic training on arm impairment due to Parkinson’s disease. The aim of this pilot study was to evaluate whether robot-assisted arm training might improve upper limb function in patients with Parkinson’s disease. Findings Ten patients with Parkinson’s disease (Hoehn and Yahr stage 2.5-3) received ten, 45-minute, treatment sessions, five days a week, for two consecutive weeks. Robot-assisted arm training was performed with the Bi-Manu-Track (Reha-Stim, Berlin, Germany) that provides a computer-controlled, repetitive, bilateral, mirror-like practice of forearm pronation/supination and wrist extension/flexion. Patients were trained according to the following modalities: passive-passive (both arms moved by the machine) and active-active (both arms actively moving against resistance). The dominant upper limb was evaluated before and immediately after treatment as well as at two weeks of follow-up. Outcomes were the nine-hole peg test, the Fugl-Meyer assessment (upper limb section) and the Unified Parkinson’s Disease Rating Scale. After treatment, a significant improvement was found in the nine-hole peg test (P = 0.007) as well as in the upper limb section of the Fugl-Meyer assessment (P = 0.012). Findings were confirmed at the 2-week follow-up evaluation only for the nine-hole peg test (P = 0.007). No significant improvement was found in the Unified Parkinson’s Disease Rating Scale at both post-treatment and follow-up evaluations. Conclusions Our findings support the hypothesis that robot-assisted arm training might be a promising tool in order to improve upper limb function in patients with Parkinson’s disease. PMID:24597524

  11. Source of dietary fibre and diverticular disease incidence: a prospective study of UK women

    PubMed Central

    Crowe, Francesca L; Balkwill, Angela; Cairns, Benjamin J; Appleby, Paul N; Green, Jane; Reeves, Gillian K; Key, Timothy J; Beral, Valerie

    2014-01-01

    Background Previous prospective studies have found the incidence of intestinal diverticular disease decreased with increasing intakes of dietary fibre, but associations by the fibre source are less well characterised. We assessed these associations in a large UK prospective study of middle-aged women. Methods and findings During 6 (SD 1) years follow-up of 690 075 women without known diverticular disease who had not changed their diet in the last 5 years, 17 325 were admitted to hospital or died with diverticular disease. Dietary fibre intake was assessed using a validated 40-item food questionnaire and remeasured 1 year later in 4265 randomly-selected women. Mean total dietary fibre intake at baseline was 13.8 (SD 5.0) g/day, of which 42% came from cereals, 22% from fruits, 19% from vegetables (not potatoes) and 15% from potatoes. The relative risk (95% CI) for diverticular disease per 5 g/day fibre intake was 0.86 (0.84 to 0.88). There was significant heterogeneity by the four main sources of fibre (p<0.0001), with relative risks, adjusted for each of the other sources of dietary fibre of 0.84 (0.81 to 0.88) per 5 g/day for cereal, 0.81 (0.77 to 0.86) per 5 g/day for fruit, 1.03 (0.93 to 1.14) per 5 g/day for vegetable and 1.04 (1.02 to 1.07) per 1 g/day for potato fibre. Conclusions A higher intake of dietary fibre is associated with a reduced risk of diverticular disease. The associations with diverticular disease appear to vary by fibre source, and the reasons for this variation are unclear. PMID:24385599

  12. Adverse childhood experiences, chronic diseases, and risky health behaviors in Saudi Arabian adults: a pilot study.

    PubMed

    Almuneef, Maha; Qayad, Mohammed; Aleissa, Majid; Albuhairan, Fadia

    2014-11-01

    Adverse childhood experiences (ACEs) have been linked with risky health behaviors and the development of chronic diseases in adulthood. This study examined associations between ACEs, chronic diseases, and risky behaviors in adults living in Riyadh, Saudi Arabia in 2012 using the ACE International Questionnaire (ACE-IQ). A cross-sectional design was used, and adults who were at least 18 years of age were eligible to participate. ACEs event scores were measured for neglect, household dysfunction, abuse (physical, sexual, and emotional), and peer and community violence. The ACE-IQ was supplemented with questions on risky health behaviors, chronic diseases, and mood. A total of 931 subjects completed the questionnaire (a completion rate of 88%); 57% of the sample was female, 90% was younger than 45 years, 86% had at least a college education, 80% were Saudi nationals, and 58% were married. One-third of the participants (32%) had been exposed to 4 or more ACEs, and 10%, 17%, and 23% had been exposed to 3, 2, or 1 ACEs respectively. Only 18% did not have an ACE. The prevalence of risky health behaviors ranged between 4% and 22%. The prevalence of self-reported chronic diseases ranged between 6% and 17%. Being exposed to 4 or more ACEs increased the risk of having chronic diseases by 2-11 fold, and increased risky health behaviors by 8-21 fold. The findings of this study will contribute to the planning and development of programs to prevent child maltreatment and to alleviate the burden of chronic diseases in adults. PMID:24974249

  13. Good-quality social care for people with Parkinson’s disease: a qualitative study

    PubMed Central

    Kennedy, Fiona; Stocks, Amanda-Jayne; McDonnell, Ann; Ramaswamy, Bhanu; Wood, Brendan; Whitfield, Malcolm

    2016-01-01

    Objectives The study examines the meaning of good-quality social care for people with Parkinson's disease and their carers. It identifies, from their perspective, the impact of good-quality social care on health and well-being. Design Qualitative case study methodology, interview and framework analysis techniques were used. Setting: community locations in the north and midlands of England. Participants Data were collected from 43 participants including individual interviews with people with Parkinson's disease (n=4), formal and informal social care providers (n=13), 2 focus groups, 1 with people with Parkinson's disease and their carers (n=17), and 1 with professionals (n=8), plus a telephone interview with a former commissioner. Findings Good-quality social care, delivered in a timely fashion, was reported to have a positive impact on health. Furthermore, there is an indication that good-quality social care can prevent untoward events, such as infections, symptom deterioration and deterioration in mental health. The concept of the ‘Impact Gap’ developed from the findings, illustrates how the costs of care may be reduced by delivering good-quality social care. Control, choice and maintaining independence emerged as indicators of good-quality social care, irrespective of clinical condition. Participants identified characteristics indicative of good-quality social care specific to Parkinson's disease, including understanding Parkinson's disease, appropriate administration of medication, timing of care and reassessment. ‘Parkinson's aware’ social care was seen to generate psychological, physical and social benefits that were inter-related. Conclusions The findings indicate how maximising quality in social care delivery for people with Parkinson's disease can impact on health and well-being. Long-term or short-term benefits may result in prevented events and reductions in health and social care resource. Health professionals can be instrumental in early

  14. Serum Proteome Profiles in Stricturing Crohn’s Disease: A pilot study.

    SciTech Connect

    Townsend, Peter; Zhang, Qibin; Shapiro, Jason; Webb-Robertson, Bobbie-Jo M.; Bramer, Lisa M.; Schepmoes, Athena A.; Weitz, Karl K.; Mallette, Meaghan; Moniz, Heather; Bright, Renee; Merrick, Marjorie; Shah, Samir A.; Sands, Bruce E.; Leleiko, Neal

    2015-08-01

    Background: Crohn’s disease (CD) is a form of inflammatory bowel disease (IBD) with different described behaviors, including stricture. At present, there are no laboratory studies that can differentiate stricturing CD from other phenotypes of IBD. We performed a pilot study to examine differences in the proteome among patients with stricturing Crohn’s disease, non-stricturing Crohn’s disease, and ulcerative colitis (UC). Methods: Serum samples were selected from the Ocean State Crohn’s and Colitis Area Registry (OSCCAR), an established cohort of patients with IBD. Crohn’s disease patients with surgically-resected stricture were matched with similar patients with Crohn’s disease without known stricture, and with UC. Serum samples from each patient were digested and analyzed using liquid chromatography-mass spectrometry to characterize the proteome. Statistical analyses were performed to identify peptides and proteins that can differentiate CD with stricture. Results: Samples from 9 patients in each group (27 total patients) were analyzed. Baseline demographic characteristics were similar among the three groups. We quantified 7668 peptides and 897 proteins for analysis. ROC analysis identified a subset of peptides with an area under the curve greater than 0.9, indicating greater separation potential. Partial least squares discriminant analysis was able to distinguish among the three groups with up to 70% accuracy by peptides, and up to 80% accuracy by proteins. We identified the significantly different proteins and peptides, and determined their function based on previously published literature. Conclusions: The serum of patients with stricturing CD, non-stricturing CD, and UC are distinguishable via proteomic analysis. Some of the proteins that differentiate the stricturing phenotype have been implicated in complement activation, fibrinolytic pathways, and lymphocyte adhesion.

  15. Serum zinc levels in 368 patients with oral mucosal diseases: A preliminary study

    PubMed Central

    Bao, Zhe-Xuan; Yang, Xiao-Wen; Shi, Jing

    2016-01-01

    Background The aim of this study was to assess the serum zinc levels in patients with common oral mucosal diseases by comparing these to healthy controls. Material and Methods A total of 368 patients, which consisted of 156 recurrent aphthous stomatitis (RAS) patients, 57 oral lichen planus (OLP) patients, 55 burning mouth syndrome (BMS) patients, 54 atrophic glossitis (AG) patients, 46 xerostomia patients, and 115 sex-and age-matched healthy control subjects were enrolled in this study. Serum zinc levels were measured in all participants. Statistical analysis was performed using a one-way ANOVA, t-test, and Chi-square test. Results The mean serum zinc level in the healthy control group was significantly higher than the levels of all other groups (p < 0.001). No individual in the healthy control group had a serum zinc level less than the minimum normal value. However, up to 24.7% (13/54) of patients with AG presented with zinc deficiency, while 21.2% (33/156) of patients with RAS, 16.4% (9/55) of patients with BMS, 15.2% (7/46) of patients with xerostomia, and 14.0% (8/57) of patients with OLP were zinc deficient. Altogether, the zinc deficiency rate was 19.02% (70/368) in the oral mucosal diseases (OMD) group (all patients with OMD). The difference between the OMD and healthy control group was significant (p <0.001). Gender differences in serum zinc levels were also present, although not statistically significant. Conclusions Zinc deficiency may be involved in the pathogenesis of common oral mucosal diseases. Zinc supplementation may be a useful treatment for oral mucosal diseases, but this requires further investigation; the optimal serum level of zinc, for the prevention and treatment of oral mucosal diseases, remains to be determined. Key words:Oral mucosal diseases, Zinc deficiency, pathogenesis. PMID:27031065

  16. An observational study of giant cell interstitial pneumonia and lung fibrosis in hard metal lung disease

    PubMed Central

    Tanaka, Junichi; Moriyama, Hiroshi; Terada, Masaki; Takada, Toshinori; Suzuki, Eiichi; Narita, Ichiei; Kawabata, Yoshinori; Yamaguchi, Tetsuo; Hebisawa, Akira; Sakai, Fumikazu; Arakawa, Hiroaki

    2014-01-01

    Background Hard metal lung disease has various pathological patterns including giant cell interstitial pneumonia (GIP) and usual interstitial pneumonia (UIP). Although the UIP pattern is considered the prominent feature in advanced disease, it is unknown whether GIP finally progresses to the UIP pattern. Objectives To clarify clinical, pathological and elemental differences between the GIP and UIP patterns in hard metal lung disease. Methods A cross-sectional study of patients from 17 institutes participating in the 10th annual meeting of the Tokyo Research Group for Diffuse Parenchymal Lung Diseases, 2009. Nineteen patients (seven female) diagnosed with hard metal lung disease by the presence of tungsten in lung specimens were studied. Results Fourteen cases were pathologically diagnosed as GIP or centrilobular inflammation/fibrosing. The other five cases were the UIP pattern or upper lobe fibrosis. Elemental analyses of lung specimens of GIP showed tungsten throughout the centrilobular fibrotic areas. In the UIP pattern, tungsten was detected in the periarteriolar area with subpleural fibrosis, but no association with centrilobular fibrosis or inflammatory cell infiltration. The GIP group was younger (43.1 vs 58.6 years), with shorter exposure duration (73 vs 285 months; p<0.01), lower serum KL-6 (398 vs 710 U/mL) and higher lymphocyte percentage in bronchoalveolar lavage fluid (31.5% vs 3.22%; p<0.05) than the fibrosis group. Conclusions The UIP pattern or upper lobe fibrosis is remarkably different from GIP in distribution of hard metal elements, associated interstitial inflammation and fibrosis, and clinical features. In hard metal lung disease, the UIP pattern or upper lobe fibrosis may not be an advanced form of GIP. PMID:24674995

  17. Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium

    PubMe