WorldWideScience

Sample records for hla-hiv disease associations

  1. Associated Autoimmune Diseases

    ... gland in the neck, thick and coarse hair. Addison’s Disease Arare disease involving the adrenal gland. The prevalence of celiac disease in people with addison’s disease is significant. Symptoms of Addison’s may include weight ...

  2. Association between periodontal diseases and systemic diseases

    Patrícia Weidlich

    2008-08-01

    Full Text Available Current evidence suggests that periodontal disease may be associated with systemic diseases. This paper reviewed the published data about the relationship between periodontal disease and cardiovascular diseases, adverse pregnancy outcomes, diabetes and respiratory diseases, focusing on studies conducted in the Brazilian population. Only a few studies were found in the literature focusing on Brazilians (3 concerning cardiovascular disease, 7 about pregnancy outcomes, 9 about diabetes and one regarding pneumonia. Although the majority of them observed an association between periodontitis and systemic conditions, a causal relationship still needs to be demonstrated. Further studies, particularly interventional well-designed investigations, with larger sample sizes, need to be conducted in Brazilian populations.

  3. Wilson's Disease Association International

    ... of Colorado and graduated with a B.S. in finance. Latest News & Announcements Search Our Site About WDA ... Help Donate Volunteer Shop Online Search the Internet Corporate Sponsorship Marketplace Copyright © 1978 - 2017 The Wilson Disease ...

  4. Addison's disease and its associations

    Puttanna, Amar; Cunningham, Alana Rosaleen; Dainty, Philip

    2013-01-01

    Addison's disease is a relatively rare endocrine condition resulting from adrenal insufficiency due to various causes. Weight loss is a common feature; however, patients may be seen by a variety of specialists, even requiring acute admission before the diagnosis is made. Addison's disease is commonly associated with other autoimmune diseases. In some cases such as autoimmune polyendocrine syndromes (APS) types 1 and 2, these associations are more commonly found. We present a case of one such ...

  5. Association between periodontal disease and cardiovascular disease

    Rehman, M.M.; Salama, R.P.

    2004-01-01

    Studies have supported the notion that subjects with periodontitis and patients with multiple tooth extractions as a result of chronic advanced periodontal disease (PDD) have a greater risk of developing Cardiovascular disease (CVD) than those who had little or no periodontal infection. Periodontitis may predispose affected patients to CVD by elevating systemic C-reactive protein level and pro-inflammatory activity in atherosclerotic lesions and accelerate development of cardiovascular diseases, Oral health variables including loss of teeth, positive plaque Benzoyl-D-L-Arginine- Naphthyl Amide test (BANA) scores, and compliant of xerostomia may by considered as risk indicators for CVD. Exact mechanism which links PDD and CVD has not been firmly established. The link between PDD and CVD may be attributed to bacteria entering blood stream and attaching to the fatty plaque in coronary artery and contributing to clot formation which can lead to heart attack. Inflammation caused by PDD increases the plaque build up. The association between the two disease entities is cause for concern. However, dental and medical practitioners should be aware of these findings to move intelligently to interact with inquiring patients with periodontitis. They should be urged to maintain medical surveillance of their cardiovascular status, and work on controlling or reducing all known risk factors associated with CVD, including periodontal infection. (author)

  6. Association between periodontal disease and cardiovascular disease

    Rehman, M M; Salama, R P [Ajman Univ. of Science and Technology Network, Abu-Dhabi Campus (United Arab Emirates)

    2004-06-01

    Studies have supported the notion that subjects with periodontitis and patients with multiple tooth extractions as a result of chronic advanced periodontal disease (PDD) have a greater risk of developing Cardiovascular disease (CVD) than those who had little or no periodontal infection. Periodontitis may predispose affected patients to CVD by elevating systemic C-reactive protein level and pro-inflammatory activity in atherosclerotic lesions and accelerate development of cardiovascular diseases, Oral health variables including loss of teeth, positive plaque Benzoyl-D-L-Arginine- Naphthyl Amide test (BANA) scores, and compliant of xerostomia may by considered as risk indicators for CVD. Exact mechanism which links PDD and CVD has not been firmly established. The link between PDD and CVD may be attributed to bacteria entering blood stream and attaching to the fatty plaque in coronary artery and contributing to clot formation which can lead to heart attack. Inflammation caused by PDD increases the plaque build up. The association between the two disease entities is cause for concern. However, dental and medical practitioners should be aware of these findings to move intelligently to interact with inquiring patients with periodontitis. They should be urged to maintain medical surveillance of their cardiovascular status, and work on controlling or reducing all known risk factors associated with CVD, including periodontal infection. (author)

  7. Addison's disease and its associations.

    Puttanna, Amar; Cunningham, Alana Rosaleen; Dainty, Philip

    2013-07-26

    Addison's disease is a relatively rare endocrine condition resulting from adrenal insufficiency due to various causes. Weight loss is a common feature; however, patients may be seen by a variety of specialists, even requiring acute admission before the diagnosis is made. Addison's disease is commonly associated with other autoimmune diseases. In some cases such as autoimmune polyendocrine syndromes (APS) types 1 and 2, these associations are more commonly found. We present a case of one such patient who presented to the acute medical team having been referred to the gastrointestinal services in the previous year for persistent vomiting and weight loss. On review of history, the cause of vomiting and weight loss was questioned and combined with subsequent biochemical testing a diagnosis of Addison's disease was made. The patient was also noted to have other associated endocrine and autoimmune conditions.

  8. Communicable diseases associated with water

    Dil, A.S.

    1997-01-01

    The diseases associated with contaminated water remain among the most serious public health problems for much of the world's population living in developing countries. Most of the disease agents that contaminated water and food are biological and come from animal or human faeces. They include bacteria, viruses, protozoa and helminths and multiply in the alimentary tract and are excreted with the faeces. Without proper sanitation they find their way into other water bodies from where they can infect other people. Most of the diseases associated with water are communicable. According to Bradley the diseases associated with water can be classified in four categories: waterborne water-washed, water-based and water related and a fifth category emerging in developed countries could be called water-dispersed. The experiences of these diseases in various in various parts of Pakistan and the role played by National Institute of Health (NIH) in investigation will be discussed: some of them being hepatitis E epidemic in Islamabad (1993,94,95), experience at Nawabshah and some others will be discussed in detail along with their preventive and control measures. (author)

  9. Cannabis-associated arterial disease.

    Desbois, Anne Claire; Cacoub, Patrice

    2013-10-01

    The aim of this study was to describe the different arterial complications reported in cannabis smokers. This study was a literature review. Cannabis use was found to be associated with stroke, myocardial infarction, and lower limb arteritis. Arterial disease involved especially young men. There was a very strong temporal link between arterial complications and cannabis use for stroke and myocardial infarction episodes. Patient outcome was closely correlated with cannabis withdrawal and relapses associated with cannabis rechallenge. Cannabis use was associated with particular characteristics of arterial disease. The increased risk of myocardial infarction onset occurred within 1 hour of smoking marijuana compared with periods of non-use. Strokes occurred mainly in the posterior cerebral circulation. Compared with cohorts of thromboangiitis obliterans patients, those with cannabis-associated limb arteritis were younger, more often male, and had more frequent unilateral involvement of the lower limbs at clinical presentation. Cannabis use is associated with arterial disease such as stroke, myocardial infarction, and limbs arteritis. It appears essential to investigate cannabis use in young patients presenting with such arterial manifestations, as outcome is closely correlated with cannabis withdrawal. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Dermatological Diseases Associated with Pregnancy

    Sävervall, Christine; Sand, Freja Lærke; Thomsen, Simon Francis

    2015-01-01

    Dermatoses unique to pregnancy are important to recognize for the clinician as they carry considerable morbidity for pregnant mothers and in some instances constitute a risk to the fetus. These diseases include pemphigoid gestationis, polymorphic eruption of pregnancy, intrahepatic cholestasis...

  11. Dengue-associated kidney disease.

    Lizarraga, Karlo J; Nayer, Ali

    2014-01-01

    A mosquito-borne viral illness highly prevalent in the tropics and subtropics, dengue is considered a major global health threat by the World Health Organization. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. An RNA virus from the genus Flavivirus, dengue virus is transmitted by Aedes aegypti,the yellow fever mosquito. Dengue is asymptomatic in as many as one half of infected individuals. Dengue fever is an acute febrile illness accompanied by constitutional symptoms. Dengue hemorrhagic fever and dengue shock syndrome are the severe forms of dengue infection.Dengue infection has been associated with a variety of renal disorders. Acute renal failure is a potential complication of severe dengue infection and is typically associated with hypotension, rhabdomyolysis, or hemolysis. Acute renal failure complicates severe dengue infection in 2-5% of the cases and carries a high mortality rate. Proteinuria has been detected in as high as 74% of patients with severe dengue infection. Hematuria has been reported in up to 12.5% of patients. Various types of glomerulonephritis have been reported during or shortly after dengue infection in humans and mouse models of dengue infection. Mesangial proliferation and immune complex deposition are the dominant histologic features of dengue-associated glomerulonephritis. On a rare occasion, dengue infection is associated with systemic autoimmune disorders involving the kidneys. In the vast majority of cases, dengue infection and associated renal disorders are self-limited.

  12. Exome localization of complex disease association signals

    Lewis Cathryn M

    2011-02-01

    Full Text Available Abstract Background Genome-wide association studies (GWAS of common diseases have had a tremendous impact on genetic research over the last five years; the field is now moving from microarray-based technology towards next-generation sequencing. To evaluate the potential of association studies for complex diseases based on exome sequencing we analysed the distribution of association signal with respect to protein-coding genes based on GWAS data for seven diseases from the Wellcome Trust Case Control Consortium. Results We find significant concentration of association signal in exons and genes for Crohn's Disease, Type 1 Diabetes and Bipolar Disorder, but also observe enrichment from up to 40 kilobases upstream to 40 kilobases downstream of protein-coding genes for Crohn's Disease and Type 1 Diabetes; the exact extent of the distribution is disease dependent. Conclusions Our work suggests that exome sequencing may be a feasible approach to find genetic variation associated with complex disease. Extending the exome sequencing to include flanking regions therefore promises further improvement of covering disease-relevant variants.

  13. Association between colonic polyps and diverticular disease

    Tetsuo Hirata; Yuko Kawakami; Nagisa Kinjo; Susumu Arakald; Tetsu Arakaki; Akira Hokama; Fukunori Kinjo; Jim Fujita

    2008-01-01

    AIM: TO evaluate the association between colonic polyps and diverticular disease in Japan.METHODS: We retrospectively reviewed the medical records of 672 consecutive patients who underwent total colonoscopy between August 2006 and April 2007 at Nishinjo Hospital, Okinawa, Japan. Patients with ahistory of any of the following were excluded from the study: previous polypectomy, colonic resection, and inflammatory bowel diseases. The association between colonic polyps and diverticular disease was analyzed by logistic regression analysis, adjusted for age and sex.RESULTS: Prevalence of colonic polyps in all patients with diverticular disease was significantly higher than that in those without diverticular disease (adjusted odds ratio 1.7).CONCLUSION: Our data showed that patients with diverticular disease have a higher risk of colonic polyps compared to those without.

  14. Association between colonic polyps and diverticular disease

    Hirata, Tetsuo; Kawakami, Yuko; Kinjo, Nagisa; Arakaki, Susumu; Arakaki, Tetsu; Hokama, Akira; Kinjo, Fukunori; Fujita, Jiro

    2008-01-01

    AIM: To evaluate the association between colonic polyps and diverticular disease in Japan. METHODS: We retrospectively reviewed the medical records of 672 consecutive patients who underwent total colonoscopy between August 2006 and April 2007 at Nishinjo Hospital, Okinawa, Japan. Patients with a history of any of the following were excluded from the study: previous polypectomy, colonic resection, and inflammatory bowel diseases. The association between colonic polyps and diverticular disease was analyzed by logistic regression analysis, adjusted for age and sex. RESULTS: Prevalence of colonic polyps in all patients with diverticular disease was significantly higher than that in those without diverticular disease (adjusted odds ratio 1.7). CONCLUSION: Our data showed that patients with diverticular disease have a higher risk of colonic polyps compared to those without. PMID:18416471

  15. Endogenous retroviruses are associated with autoimmune diseases

    Nexø, Bjørn A; Bisgaard Jensen, Sara; Hansen, Bettina

    2016-01-01

    of transmission is called vertical. Viral variants of importance for development of disease must be more frequent among diseased persons than among healthy individuals. Multiple sclerosis, diabetes and rheumatoid arthritis are all associated with sets of endogenouos retroviruses but not the same sets. If a virus...

  16. Associations of Systemic Diseases with Intermediate Uveitis.

    Shoughy, Samir S; Kozak, Igor; Tabbara, Khalid F

    2016-01-01

    To determine the associations of systemic diseases with intermediate uveitis. The medical records of 50 consecutive cases with intermediate uveitis referred to The Eye Center in Riyadh, Saudi Arabia, were reviewed. Age- and sex-matched patients without uveitis served as controls. Patients had complete ophthalmic and medical examinations. There were 27 male and 23 female patients. Mean age was 29 years with a range of 5-62 years. Overall, 21 cases (42%) had systemic disorders associated with intermediate uveitis and 29 cases (58%) had no associated systemic disease. A total of 11 patients (22%) had asthma, 4 (8%) had multiple sclerosis, 3 (6%) had presumed ocular tuberculosis, 1 (2%) had inflammatory bowel disease, 1 (2%) had non-Hodgkin lymphoma and 1 (2%) had sarcoidosis. Evidence of systemic disease was found in 50 (5%) of the 1,000 control subjects. Bronchial asthma was found in 37 patients (3.7 %), multiple sclerosis in 9 patients (0.9%), inflammatory bowel disease in 3 patients (0.3%), and tuberculosis in 1 patient (0.1%). None of the control patients had sarcoidosis or lymphoma. There were statistically significant associations between intermediate uveitis and bronchial asthma (p = 0.0001), multiple sclerosis (p = 0.003) and tuberculosis (p = 0.0005). Bronchial asthma and multiple sclerosis were the most frequently encountered systemic diseases associated with intermediate uveitis in our patient population. Patients with intermediate uveitis should undergo careful history-taking and investigations to rule out associated systemic illness.

  17. Grave's disease associated with immunoglobulin A nephropathy: A rare association.

    Khan, I; Bhat, R A; Khan, I; Hameed, I

    2015-01-01

    Immunoglobulin A (Ig A) nephropathy is the most common form of primary glomerulonephritis. The association of Ig A nephropathy with Grave's disease has not been reported so far. We report a case of 20-year-old female with Grave's disease who presented with edema, facial puffiness, and decreased urine output. She was found to be hypertensive with renal failure and nephrotic range proteinuria. Renal biopsy revealed features of Ig A nephropathy. The patient was treated with oral corticosteroids (1 mg/kg/day). To our knowledge, this is the first case showing association of Grave's disease with Ig A nephropathy.

  18. Plausible mechanisms explaining the association of periodontitis with cardiovascular diseases

    Loos, B.G.; Teeuw, W.J.; Nicu, E.A.; Lynge Petersen, A.M.

    2016-01-01

    The association between periodontitis and cardiovascular diseases is now well established. Cardiovascular diseases include atherosclerosis, coronary heart (artery) disease, cerebrovascular disease, and peripheral artery disease. Atherosclerosis is the underlying pathology of cardiovascular diseases.

  19. Is diverticular disease associated with colonic malignancy?

    Ekbom, Anders

    2012-01-01

    Colon cancer and diverticular disease have common characteristics; there are increases in the incidences in both disease entities and these diseases are more common in the westernized world. There is also an increase in the age-specific incidence with advancing age. Similar dietary features have been implicated for both diseases and already during the 1960s it was postulated by Burkitt that there is an association. Observational studies initially were able to demonstrate that patients with a history of diverticular disease of the colon had an increased risk of colon cancer, especially in the left side. However, the results from these studies have not been consistent, and problems like selection bias and confounding by indication have been major drawbacks in order to interpret the results and infer causality. Recent studies, which have had a better assessment of diverticular disease by new diagnostic methods, do not support such an association to the same extent as previously. Moreover, surveillance bias has become an increasing problem as patients with diverticular disease of the colon are subjected to a higher diagnostic intensity than other individuals in a population-based setting. A critical evaluation of the studies published so far therefore clearly indicates that the proposed association between diverticular disease and colonic malignancy is not evidence based, which should have an impact on clinical practice as well as on how to deal with these patient groups within the realms of a screening program. Copyright © 2012 S. Karger AG, Basel.

  20. Parkinson's disease associated with impaired oxidative phosphorylation

    Finsterer, J.; Jarius, C.; Baumgartner, M.

    2001-01-01

    Parkinson's disease may be due to primary or secondary oxidative phosphorylation (OXPHOS) defects. In a 76-year-old man with Parkinson's disease since 1992, slightly but recurrently elevated creatine phosphokinase, recurrently elevated blood glucose, thickening of the left ventricular myocardium, bifascicular block and hypacusis were found. Cerebral MRI showed atrophy, periventricular demyelination, multiple, disseminated, supra- and infratentorial lacunas, and haemosiderin deposits in both posterior horns. Muscle biopsy showed typical features of an OXPHOS defect. Whether the association of Parkinson's disease and impaired OXPHOS was causative or coincidental remains unknown. Possibly, the mitochondrial defect acted as an additional risk factor for Parkinson's disease or the OXPHOS defect worsened the preexisting neurological impairments by a cumulative or synergistic mechanism. In conclusion, this case shows that Parkinson's disease may be associated with a mitochondrially or nuclearly encoded OXPHOS defect, manifesting as hypacusis, myopathy, axonal polyneuropathy, cardiomyopathy and recurrent subclinical ischaemic strokes and haemorrhages. (orig.)

  1. Histopathological lesions associated with equine periodontal disease.

    Cox, Alistair; Dixon, Padraic; Smith, Sionagh

    2012-12-01

    Equine periodontal disease (EPD) is a common and painful condition, the aetiology and pathology of which are poorly understood. To characterise the histopathological lesions associated with EPD, the skulls of 22 horses were assessed grossly for the presence of periodontal disease, and a standard set of interdental tissues taken from each for histopathological examination. Histological features of EPD included ulceration and neutrophilic inflammation of the gingival epithelium. Mononuclear and eosinophilic inflammation of the gingival lamina propria and submucosa was commonly present irrespective of the presence or degree of periodontal disease. Gingival hyperplasia was present to some degree in all horses, and was only weakly associated with the degree of periodontal disease. In all horses dental plaque was present at the majority of sites examined and was often associated with histological evidence of peripheral cemental erosion. Bacteria (including spirochaetes in four horses) were identified in gingival samples by Gram and silver impregnation techniques and were significantly associated with the presence of periodontal disease. This is the first study to describe histological features of EPD, and the first to identify associated spirochaetes in some cases. Histological features were variable, and there was considerable overlap of some features between the normal and diseased gingiva. Further investigation into the potential role of bacteria in the pathogenesis and progression of EPD is warranted. Copyright © 2012 Elsevier Ltd. All rights reserved.

  2. Moyamoya disease associated with antiphospholipid syndrome

    Mahmut Abuhandan

    2011-12-01

    Full Text Available Moyamoya (MMD is a disease that often involves the vascular structures of anterior cerebral circulation, particularly the proximal segments of anterior and middle cerebral arteries. The etiology of the disease is unknown. MMD often presents with cerebral ischemia and rarely with cerebral hemorrhage. The pathology is termed Moyamoya syndrome (MMS when the pathological cerebral angiography findings are accompanied by meningitis, neurofibromatosis, neoplasm, Down syndrome or polycystic kidney disease. Autoimmune diseases including Graves’ disease, Behcet’s disease and antiphospholipid syndrome might also lead to the development of MMS. In this manuscript, we presented an interesting case of MMD associated with antiphospholipid syndrome, which is quite a rare cause of acute cerebral infarction in childhood

  3. TREATMENT OF CLOSTRIDIUM DIFFICILE- ASSOCIATED DISEASE

    Snezana Antic-Mladenovic

    2007-04-01

    Full Text Available Clostridium difficile is a Gram-positive, spore-forming, anaerobic bacillus that is widely distributed in the environment, but is found as a part of a normal large bowel flora in approximately 3% of normal adults. C. difficile produces two protein exotoxins: toxin A and toxin B. Both toxins are responsible for causing the sings and symptoms of disease.C. difficile is now thought to be responsible for a spectrum of diseases, ranging from asymptomatic colonization to diarrhea of varying severity, life-threatening colitis, often as a consequence of long-term antibiotic exposure. This spectrum has become known as C. difficile-associated disease (CDAD.Treatment of Clostridium difficile-associated disease demand administration of effi-cient antibiotics (vancomycin, metronidazole, anion exchange resins and probiotics (Lactobacillus spp., Saccharomyces boulardii.

  4. Association Between Progranulin and Gaucher Disease

    Jian, Jinlong; Zhao, Shuai; Tian, Qing-Yun; Liu, Helen; Zhao, Yunpeng; Chen, Wen-Chi; Grunig, Gabriele; Torres, Paola A.; Wang, Betty C.; Zeng, Bai; Pastores, Gregory; Tang, Wei; Sun, Ying; Grabowski, Gregory A.; Kong, Max Xiangtian

    2016-01-01

    Background: Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. Methods: Serum levels of PGRN were measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced, and the genotyping of 4 SNPs identified in GD patients was performed in 161 GD and 142 healthy ...

  5. Interstitial lung disease associated with connective tissue diseases

    Medina, Yimy F; Restrepo, Jose Felix; Iglesias, Antonio; Ojeda, Paulina; Matiz, Carlos

    2007-01-01

    An interstitial lung disease (ILD) belongs to a group of diffuse parenchyma lung diseases it should be differentiated from other pathologies among those are idiopathic and ILD associated to connective tissue diseases (CTD) New concepts have been developed in the last years and they have been classified in seven defined subgroups. It has been described the association of each one of these subgroups with CTD. Natural history and other aspects of its treatment is not known completely .For complete diagnose it is required clinical, image and histopathologic approaches. The biopsy lung plays an essential role. It is important to promote and to stimulate the subclasification of each subgroup with the purpose of knowing their natural history directing the treatment and to improve their outcome

  6. Association between periodontal disease and non-communicable diseases

    Lee, Jae-Hong; Oh, Jin-Young; Youk, Tae-Mi; Jeong, Seong-Nyum; Kim, Young-Taek; Choi, Seong-Ho

    2017-01-01

    Abstract The National Health Insurance Service–Health Examinee Cohort during 2002 to 2013 was used to investigate the associations between periodontal disease (PD) and the following non-communicable diseases (NCDs): hypertension, diabetes mellitus, osteoporosis, cerebral infarction, angina pectoris, myocardial infarction, and obesity. Univariate and multivariate logistic regression analyses adjusting for potential confounders during the follow-up period—including age, sex, household income, insurance status, residence area, health status, and comorbidities—were used to estimated odds ratios (ORs) with 95% confidence intervals (CIs) in order to assess the associations between PD and NCDs. We enrolled 200,026 patients with PD and 154,824 subjects with a healthy oral status. Statistically, significant associations were found between PD and the investigated NCDs except for cerebral and myocardial infarction after adjusting for sociodemographic and comorbidity factors (P periodontitis pathogenesis as a triggering and mediating mechanism. PMID:28658175

  7. Human diseases associated with defective DNA repair

    Friedberg, E.C.; Ehmann, U.K.; Williams, J.I.

    1979-01-01

    The observations on xeroderma pigmentosum (XP) cells in culture were the first indications of defective DNA repair in association with human disease. Since then, a wealth of information on DNA repair in XP, and to a lesser extent in other diseases, has accumulated in the literature. Rather than clarifying the understanding of DNA repair mechanisms in normal cells and of defective DNA repair in human disease, the literature suggests an extraordinary complexity of both of the phenomena. In this review a number of discrete human diseases are considered separately. An attempt was made to systematically describe the pertinent clinical features and cellular and biochemical defects in these diseases, with an emphasis on defects in DNA metabolism, particularly DNA repair. Wherever possible observations have been correlated and unifying hypotheses presented concerning the nature of the basic defect(s) in these diseases. Discussions of the following diseases are presented: XP, ataxia telangiectasia; Fanconi's anemia; Hutchinson-Gilford progeria syndrome; Bloom's syndrome, Cockayne's syndrome; Down's syndrome; retinoblastoma; chronic lymphocytic leukemia; and other miscellaneous human diseases with possble DNA repair defects

  8. Clinico - demographic factors associated with diarrhoeal disease ...

    Objectives: To determine the proportion of under-5 children presenting with diarrhoeal disease, and the clinicodemographic variables associated with the outcome at the emergency paediatric ward (CHER) of the Nnamdi Azikiwe University Teaching Hospital, Nnewi, South- East Nigeria. Methods: Clinical and demographic ...

  9. Association between alcohol and cardiovascular disease

    Holmes, Michael V; Dale, Caroline E; Zuccolo, Luisa

    2014-01-01

    OBJECTIVE: To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. DESIGN: Mendelian randomisation meta-analysis of 56 epidemiological studies. PARTICIPANTS: 261 991 individuals of European...... descent, including 20 259 coronary heart disease cases and 10 164 stroke events. Data were available on ADH1B rs1229984 variant, alcohol phenotypes, and cardiovascular biomarkers. MAIN OUTCOME MEASURES: Odds ratio for coronary heart disease and stroke associated with the ADH1B variant in all individuals...... disease than those without the genetic variant. This suggests that reduction of alcohol consumption, even for light to moderate drinkers, is beneficial for cardiovascular health....

  10. Vasculitis associated with connective tissue diseases.

    Cozzani, E; Gasparini, G; Papini, M; Burlando, M; Drago, F; Parodi, A

    2015-04-01

    Vasculitis in connective tissue disease (CTD) is quite rare, it is reported in approximately 10% of patients with CTD; systemic lupus erythematosus (SLE) shows the highest association rate. Vessels of any size may be involved, but mainly small vessels vasculitis is reported. At present the classification of these vasculitis is unsatisfactory. According to the 2012 revised International Chapel Hill Consensus Conference, vasculitides secondary to CTD are a well identified entity and are classified under the category of "vasculitis associated with systemic disease". However only lupus vasculitis and rheumatoid vasculitis are explicitly listed, while the remaining are generically included under the heading "others". Petechiae, purpura, gangrene and ulcers are the most frequent cutaneous manifestations that should investigated in order to rule out potentially dangerous systemic involvement, especially if cryoglobulinemic or necrotizing vasculitis are suspected. This review will focus on the cutaneous involvement in CTD associated vasculitis.

  11. Association-rule-based tuberculosis disease diagnosis

    Asha, T.; Natarajan, S.; Murthy, K. N. B.

    2010-02-01

    Tuberculosis (TB) is a disease caused by bacteria called Mycobacterium tuberculosis. It usually spreads through the air and attacks low immune bodies such as patients with Human Immunodeficiency Virus (HIV). This work focuses on finding close association rules, a promising technique in Data Mining, within TB data. The proposed method first normalizes of raw data from medical records which includes categorical, nominal and continuous attributes and then determines Association Rules from the normalized data with different support and confidence. Association rules are applied on a real data set containing medical records of patients with TB obtained from a state hospital. The rules determined describes close association between one symptom to another; as an example, likelihood that an occurrence of sputum is closely associated with blood cough and HIV.

  12. Association between periodontitis and lung disease

    Fabiano Rito Macedo

    2010-04-01

    Full Text Available Objective: To verify the association between periodontal disease and lung disease from an epidemiological, case and control survey, in patients who attended the first aid service of the Adriano Jorge Foundation Hospital, Manaus, Amazonas, Brazil, from June 2006 to February 2007. Methods: The sample consisted of 140 patients, among whom community-acquired pneumonia was present in 60% (n = 70, and chronic obstructive pulmonary disease in 40% (case-group; and 70 patients without respiratory disease (control group, ranging between 19 and 69 years of ages, with a mean age of 41.3, and standard deviation of 13.6 years. The clinical parameters for evaluating periodontal changes were obtained by means of pocket depth, bleeding on probing, plaque index and clinical attachment loss. Results: Both groups showed no significant difference in any of the control variables (p>0.05. The groups showed significant difference only in the plaque index (p 0.05. Due to the increase in the bacterial plaque index in the oral cavity of patients with respiratory diseases, further studies should be conducted to verify what the relationship between the two diseases is.

  13. Association of spirochetal infection with Morgellons disease.

    Middelveen, Marianne J; Burugu, Divya; Poruri, Akhila; Burke, Jennie; Mayne, Peter J; Sapi, Eva; Kahn, Douglas G; Stricker, Raphael B

    2013-01-01

    Morgellons disease (MD) is an emerging multisystem illness characterized by skin lesions with unusual filaments embedded in or projecting from epithelial tissue. Filament formation results from abnormal keratin and collagen expression by epithelial-based keratinocytes and fibroblasts. Recent research comparing MD to bovine digital dermatitis, an animal infectious disease with similar skin features, provided clues that spirochetal infection could play an important role in the human disease as it does in the animal illness. Based on histological staining, immunofluorescent staining, electron microscopic imaging and polymerase chain reaction, we report the detection of Borrelia spirochetes in dermatological tissue of  four randomly-selected MD patients. The association of MD with spirochetal infection provides evidence that this infection may be a significant factor in the illness and refutes claims that MD lesions are self-inflicted and that people suffering from this disorder are delusional. Molecular characterization of the Borrelia spirochetes found in MD patients is warranted.

  14. Sleep disorders associated with primary mitochondrial diseases.

    Ramezani, Ryan J; Stacpoole, Peter W

    2014-11-15

    Primary mitochondrial diseases are caused by heritable or spontaneous mutations in nuclear DNA or mitochondrial DNA. Such pathological mutations are relatively common in humans and may lead to neurological and neuromuscular complication that could compromise normal sleep behavior. To gain insight into the potential impact of primary mitochondrial disease and sleep pathology, we reviewed the relevant English language literature in which abnormal sleep was reported in association with a mitochondrial disease. We examined publication reported in Web of Science and PubMed from February 1976 through January 2014, and identified 54 patients with a proven or suspected primary mitochondrial disorder who were evaluated for sleep disturbances. Both nuclear DNA and mitochondrial DNA mutations were associated with abnormal sleep patterns. Most subjects who underwent polysomnography had central sleep apnea, and only 5 patients had obstructive sleep apnea. Twenty-four patients showed decreased ventilatory drive in response to hypoxia and/ or hyperapnea that was not considered due to weakness of the intrinsic muscles of respiration. Sleep pathology may be an underreported complication of primary mitochondrial diseases. The probable underlying mechanism is cellular energy failure causing both central neurological and peripheral neuromuscular degenerative changes that commonly present as central sleep apnea and poor ventilatory response to hyperapnea. Increased recognition of the genetics and clinical manifestations of mitochondrial diseases by sleep researchers and clinicians is important in the evaluation and treatment of all patients with sleep disturbances. Prospective population-based studies are required to determine the true prevalence of mitochondrial energy failure in subjects with sleep disorders, and conversely, of individuals with primary mitochondrial diseases and sleep pathology. © 2014 American Academy of Sleep Medicine.

  15. Tracheal quadrifurcation associated with congenital heart disease

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  16. Fatal interstitial lung disease associated with icotinib

    Zhang, Jiexia; Zhan, Yangqing; Ouyang, Ming; Qin, Yinyin; Zhou, Chengzhi; Chen, Rongchang

    2014-01-01

    The most serious, and maybe fatal, yet rare, adverse reaction of gefitinib and erlotinib is drug-associated interstitial lung disease (ILD), which has been often described. However, it has been less well described for icotinib, a similar orally small-molecule tyrosine kinase inhibitor (TKI). The case of a 25-year-old female patient with stage IV lung adenocarcinoma who developed fatal ILD is reported here. She denied chemotherapy, and received palliative treatment with icotinib (125 mg po, th...

  17. Suicide and Lyme and associated diseases.

    Bransfield, Robert C

    2017-01-01

    The aim of this paper is to investigate the association between suicide and Lyme and associated diseases (LAD). No journal article has previously performed a comprehensive assessment of this subject. Multiple case reports and other references demonstrate a causal association between suicidal risk and LAD. Suicide risk is greater in outdoor workers and veterans, both with greater LAD exposure. Multiple studies demonstrate many infections and the associated proinflammatory cytokines, inflammatory-mediated metabolic changes, and quinolinic acid and glutamate changes alter neural circuits which increase suicidality. A similar pathophysiology occurs in LAD. A retrospective chart review and epidemiological calculations were performed. LAD contributed to suicidality, and sometimes homicidality, in individuals who were not suicidal before infection. A higher level of risk to self and others is associated with multiple symptoms developing after acquiring LAD, in particular, explosive anger, intrusive images, sudden mood swings, paranoia, dissociative episodes, hallucinations, disinhibition, panic disorder, rapid cycling bipolar, depersonalization, social anxiety disorder, substance abuse, hypervigilance, generalized anxiety disorder, genital-urinary symptoms, chronic pain, anhedonia, depression, low frustration tolerance, and posttraumatic stress disorder. Negative attitudes about LAD from family, friends, doctors, and the health care system may also contribute to suicide risk. By indirect calculations, it is estimated there are possibly over 1,200 LAD suicides in the US per year. Suicidality seen in LAD contributes to causing a significant number of previously unexplained suicides and is associated with immune-mediated and metabolic changes resulting in psychiatric and other symptoms which are possibly intensified by negative attitudes about LAD from others. Some LAD suicides are associated with being overwhelmed by multiple debilitating symptoms, and others are impulsive

  18. Associations between B Vitamins and Parkinson's Disease.

    Shen, Liang

    2015-08-27

    B vitamins may correlate with Parkinson's disease (PD) through regulating homocysteine level. However, there is no comprehensive assessment on the associations between PD and B vitamins. The present study was designed to perform a meta-analytic assessment of the associations between folate, vitamin B6, and vitamin B12 and PD, including the status of B vitamins in PD patients compared with controls, and associations of dietary intakes of B vitamins and risk of PD. A literature search using Medline database obtained 10 eligible studies included in the meta-analyses. Stata 12.0 statistical software was used to perform the meta-analysis. Pooled data revealed that there was no obvious difference in folate level between PD patients and healthy controls, and PD patients had lower level of vitamin B12 than controls. Available data suggested that higher dietary intake of vitamin B6 was associated with a decreased risk of PD (odds ratio (OR) = 0.65, 95% confidence intervals (CI) = (0.30, 1.01)), while no significant association was observed for dietary intake of folate and vitamin B12 and risk of PD. PD patients had lower level of vitamin B12 and similar level of folate compared with controls. Dietary intake of vitamin B6 exhibited preventive effect of developing PD based on the available data. As the number of included studies is limited, more studies are needed to confirm the findings and elucidate the underpinning underlying these associations.

  19. Is running associated with degenerative joint disease?

    Panush, R.S.; Schmidt, C.; Caldwell, J.R.

    1986-01-01

    Little information is available regarding the long-term effects, if any, of running on the musculoskeletal system. The authors compared the prevalence of degenerative joint disease among 17 male runners with 18 male nonrunners. Running subjects (53% marathoners) ran a mean of 44.8 km (28 miles)/wk for 12 years. Pain and swelling of hips, knees, ankles and feet and other musculoskeletal complaints among runners were comparable with those among nonrunners. Radiologic examinations (for osteophytes, cartilage thickness, and grade of degeneration) also were without notable differences among groups. They did not find an increased prevalence of osteoarthritis among the runners. Our observations suggest that long-duration, high-mileage running need to be associated with premature degenerative joint disease in the lower extremities

  20. Cyclophosphamide for connective tissue disease-associated interstitial lung disease.

    Barnes, Hayley; Holland, Anne E; Westall, Glen P; Goh, Nicole Sl; Glaspole, Ian N

    2018-01-03

    Approximately one-third of individuals with interstitial lung disease (ILD) have associated connective tissue disease (CTD). The connective tissue disorders most commonly associated with ILD include scleroderma/systemic sclerosis (SSc), rheumatoid arthritis, polymyositis/dermatomyositis, and Sjögren's syndrome. Although many people with CTD-ILD do not develop progressive lung disease, a significant proportion do progress, leading to reduced physical function, decreased quality of life, and death. ILD is now the major cause of death amongst individuals with systemic sclerosis.Cyclophosphamide is a highly potent immunosuppressant that has demonstrated efficacy in inducing and maintaining remission in autoimmune and inflammatory illnesses. However this comes with potential toxicities, including nausea, haemorrhagic cystitis, bladder cancer, bone marrow suppression, increased risk of opportunistic infections, and haematological and solid organ malignancies.Decision-making in the treatment of individuals with CTD-ILD is difficult; the clinician needs to identify those who will develop progressive disease, and to weigh up the balance between a high level of need for therapy in a severely unwell patient population against the potential for adverse effects from highly toxic therapy, for which only relatively limited data on efficacy can be found. Similarly, it is not clear whether histological subtype, disease duration, or disease extent can be used to predict treatment responsiveness. To assess the efficacy and adverse effects of cyclophosphamide in the treatment of individuals with CTD-ILD. We performed searches on CENTRAL, MEDLINE, Embase, CINAHL, and Web of Science up to May 2017. We handsearched review articles, clinical trial registries, and reference lists of retrieved articles. We included randomised controlled parallel-group trials that compared cyclophosphamide in any form, used individually or concomitantly with other immunomodulating therapies, versus non

  1. Association between thyroid function and gallstone disease

    Henry V(o)lzke; Daniel M Robinson; Ulrich John

    2005-01-01

    AIM: To investigate those associations using data of the population-based Study of Health in Pomerania.METHODS: A study population of 3 749 residents aged 20-79 years without previously diagnosed thyroid disease was available for analyses. Serum TSH was used to assess thyroid function. Cholelithiasis was defined by either a prior history of cholecystectomy or the presence of gallstones on ultrasound. Logistic regression was performed to analyze independent associations between thyroid function and cholelithiasis.RESULTS: There were 385 persons (10.3%) with low (<0.3 mIU/L), 3 321 persons (88.6%) with normal and 43 persons (1.2%) with high serum TSH levels (>3 mIU/L).The proportion of cholelithiasis among males and females was 14.4% and 25.3%, respectively. Among males, there was an independent relation between high serum TSH and cholelithiasis (OR 3.77; 95%-CI 1.06-13.41; ,P<0.05). zAlso among males, there was a tendency towards an elevated risk of cholelithiasis in persons with low serum TSH (OR 1.40; 95%-CI 0.96-2.02; P = 0.07). In the female population, no such relation was identified.CONCLUSION: There is an association between thyroid and gallstone disease with a gender-specific relation between hypothyroidism and cholelithiasis.

  2. Association between periodontal disease and pregnancy outcomes.

    Soroye, M; Ayanbadejo, P; Savage, K; Oluwole, A

    2015-12-01

    To evaluate the association between periodontal disease and pregnancy outcomes like preterm birth and low birth weight. Interviewer-administered questionnaires were completed by the subjects who attended the antenatal clinic of the Lagos University Teaching Hospital, Lagos. Information obtained included; maternal age, gestational age, marital status, educational status, occupation and expected date of delivery. After delivery, the questionnaire was completed with baby's weight at birth and the actual date of delivery. Clinical assessment of the periodontium was done using Oral Hygiene Index (OHI) and Community Periodontal Index of Treatment Needs (CPITN). Participants were divided into three groups: Test, Control I and Control II groups. Scaling and polishing were done for all patients with periodontal disease before (Test group) and after delivery (Control I). All Control II participants (those without periodontal disease) were given Oral hygiene instructions. Descriptive and comparative analyses were done using Epi info version 2008. Four hundred and fifty women received the questionnaire but the response rate was 94%, giving an actual sample size of 423 participants. Maternal age range was between 18 and 34 years with mean age of 29.67 (± 3.37). Gestational age at the point of recruitment was between 10 weeks and 26 weeks with mean of 23.34 (± 4.05). The prevalence of periodontal disease among the study group was 33.38%. About 71% of the participants attained tertiary level of education; only 0.7% had no formal education. There was 9.9% use of alcohol among the participants. The mean oral hygiene score for the participants was 1.94 (± 1.31). The prevalences for preterm deliveries, low birth weight and spontaneous abortion were 12.5%, 12.1% and 1.42% respectively. This study confirms periodontal disease as a probable risk for adverse pregnancy outcomes such as preterm delivery and low birth weight. Therefore, health workers should be encouraged to promote good

  3. Association of ED with chronic periodontal disease.

    Matsumoto, S; Matsuda, M; Takekawa, M; Okada, M; Hashizume, K; Wada, N; Hori, J; Tamaki, G; Kita, M; Iwata, T; Kakizaki, H

    2014-01-01

    To examine the relationship between chronic periodontal disease (CPD) and ED, the interview sheet including the CPD self-checklist (CPD score) and the five-item version of the International Index of Erectile Function (IIEF-5) was distributed to 300 adult men who received a comprehensive dental examination. Statistical analyses were performed by the Spearman's rank correlation coefficient and other methods. Statistical significance was accepted at the level of Pdysfunction and the systematic inflammatory changes associated with CPD. The present study also suggests that dental health is important as a preventive medicine for ED.

  4. Suicide and Lyme and associated diseases

    Bransfield RC

    2017-06-01

    Full Text Available Robert C Bransfield Department of Psychiatry, Rutgers-RWJ Medical School, Piscataway, NJ, USA Purpose: The aim of this paper is to investigate the association between suicide and Lyme and associated diseases (LAD. No journal article has previously performed a comprehensive assessment of this subject.Introduction: Multiple case reports and other references demonstrate a causal association between suicidal risk and LAD. Suicide risk is greater in outdoor workers and veterans, both with greater LAD exposure. Multiple studies demonstrate many infections and the associated proinflammatory cytokines, inflammatory-mediated metabolic changes, and quinolinic acid and glutamate changes alter neural circuits which increase suicidality. A similar pathophysiology occurs in LAD.Method: A retrospective chart review and epidemiological calculations were performed.Results: LAD contributed to suicidality, and sometimes homicidality, in individuals who were not suicidal before infection. A higher level of risk to self and others is associated with multiple symptoms developing after acquiring LAD, in particular, explosive anger, intrusive images, sudden mood swings, paranoia, dissociative episodes, hallucinations, disinhibition, panic disorder, rapid cycling bipolar, depersonalization, social anxiety disorder, substance abuse, hypervigilance, generalized anxiety disorder, genital–urinary symptoms, chronic pain, anhedonia, depression, low frustration tolerance, and posttraumatic stress disorder. Negative attitudes about LAD from family, friends, doctors, and the health care system may also contribute to suicide risk. By indirect calculations, it is estimated there are possibly over 1,200 LAD suicides in the US per year.Conclusion: Suicidality seen in LAD contributes to causing a significant number of previously unexplained suicides and is associated with immune-mediated and metabolic changes resulting in psychiatric and other symptoms which are possibly

  5. Associations between Systemic Sclerosis and Thyroid Diseases

    Poupak Fallahi

    2017-10-01

    Full Text Available We have reviewed scientific literature about the association of systemic sclerosis (SSc and thyroid disorders. A high incidence, and prevalence, of new cases of autoimmune thyroiditis (AT and/or hypothyroidism have been shown in sclerodermic patients (overall in the female gender. An association among a Th1 immune-predominance, low vitamin D levels, and AT have been also shown in SSc patients. Cases of Graves’ disease (GD have been described in SSc patients, too, according with the higher prevalence of thyroid autoimmunity. It has been also shown a higher prevalence of papillary thyroid cancer (PTC, in association with AT, in SSc patients. However, in order to confirm results about GD and thyroid cancer, studies in larger number of patients with SSc are needed. During the follow-up of SSc patients it would be appropriate to monitor carefully their thyroid status. The abovementioned data strongly suggest a periodic thyroid function follow-up in female SSc patients [showing a borderline high (although in the normal range thyroid-stimulating hormone level, antithyroid peroxidase antibody positivity, and a small thyroid with a hypoechoic pattern], and, when necessary, appropriate treatments. In conclusion, most of the studies show an association among SSc, AT, and hypothyroidism, such as an increased prevalence of TC overall in SSc patients with AT. Only few cases of GD have been also described in SSc.

  6. Periodontal disease associated to systemic genetic disorders.

    Nualart Grollmus, Zacy Carola; Morales Chávez, Mariana Carolina; Silvestre Donat, Francisco Javier

    2007-05-01

    A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis--in some cases related to the presence of plaque and/or specific bacteria (severe congenital neutropenia or infantile genetic agranulocytosis, Chediak-Higiashi syndrome, Down syndrome and Papillon-Lefévre syndrome). In the presence of humoral immune alterations, periodontal damage may result indirectly as a consequence of alterations in other systems. In connective tissue disorders, bacterial plaque and alterations of the periodontal tissues increase patient susceptibility to gingival inflammation and alveolar resorption (Marfan syndrome and Ehler-Danlos syndrome). The management of periodontal disease focuses on the control of infection and bacterial plaque by means of mechanical and chemical methods. Periodontal surgery and even extraction of the most seriously affected teeth have also been suggested. There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available.

  7. Fatal interstitial lung disease associated with icotinib.

    Zhang, Jiexia; Zhan, Yangqing; Ouyang, Ming; Qin, Yinyin; Zhou, Chengzhi; Chen, Rongchang

    2014-12-01

    The most serious, and maybe fatal, yet rare, adverse reaction of gefitinib and erlotinib is drug-associated interstitial lung disease (ILD), which has been often described. However, it has been less well described for icotinib, a similar orally small-molecule tyrosine kinase inhibitor (TKI). The case of a 25-year-old female patient with stage IV lung adenocarcinoma who developed fatal ILD is reported here. She denied chemotherapy, and received palliative treatment with icotinib (125 mg po, three times daily) on March 1, 2013. One month after treatment initiation, the patient complained of continuous dry cough and rapid progressive dyspnea. Forty one days after icotinib treatment, icotinib associated ILD was suspected when the patient became increasingly dyspnoeic despite of treatment of pericardial effusion, left pleural effusion and lower respiratory tract infection, and X-ray computed tomography (CT) of chest revealed multiple effusion shadows and ground-glass opacities in bilateral lungs. Then, icotinib was discontinued and intravenous corticosteroid was started (methylprednisolone 40 mg once daily, about 1 mg per kilogram) respectively. Forty three days after icotinib treatment, the patient died of hypoxic respiratory failure. ILD should be considered as a rare, but often fatal side effect associated with icotinib treatment.

  8. Diabetes mellitus and associated diseases from Ethiopian perspective

    admin

    complications, and associated communicable diseases in Ethiopia. ... of infectious diseases such as: UTI, HCV and tuberculosis that is associated .... serious health problems on pregnant mothers, and if not ... tuberculosis infection in DM patients, makes treatment .... Asymptomatic bacteriuria and symptomatic urinary.

  9. Association between psoriasis and inflammatory bowel disease

    Egeberg, Alexander; Mallbris, L; Warren, R B

    2016-01-01

    BACKGROUND: Psoriasis, Crohn disease (CD) and ulcerative colitis (UC) are chronic inflammatory disorders with overlapping genetic architecture. However, data on the frequency and risk of CD and UC in psoriasis are scarce and poorly understood. OBJECTIVES: To investigate the association between CD...... and UC in patients with psoriasis. METHODS: All Danish individuals aged ≥ 18 years between 1 January 1997 and 31 December 2012 were linked in nationwide registers. Psoriasis severity was defined in two models: hospital visits and medication. Incidence rates per 10 000 person-years were calculated......, and incidence rate ratios (IRRs) were estimated by Poisson regression. RESULTS: In the total cohort (n = 5 554 100) there were 75 209 incident cases of psoriasis, 11 309 incident cases of CD and 30 310 incident cases of UC, during follow-up. The adjusted IRRs (95% confidence intervals) of CD were 1·28 (1...

  10. Association Between Progranulin and Gaucher Disease.

    Jian, Jinlong; Zhao, Shuai; Tian, Qing-Yun; Liu, Helen; Zhao, Yunpeng; Chen, Wen-Chi; Grunig, Gabriele; Torres, Paola A; Wang, Betty C; Zeng, Bai; Pastores, Gregory; Tang, Wei; Sun, Ying; Grabowski, Gregory A; Kong, Max Xiangtian; Wang, Guilin; Chen, Ying; Liang, Fengxia; Overkleeft, Herman S; Saunders-Pullman, Rachel; Chan, Gerald L; Liu, Chuan-Ju

    2016-09-01

    Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. Serum levels of PGRN were measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced, and the genotyping of 4 SNPs identified in GD patients was performed in 161 GD and 142 healthy control samples. Development of GD in PGRN-deficient mice was characterized, and the therapeutic effect of rPGRN on GD analyzed. Serum PGRN levels were significantly lower in GD patients (96.65±53.45ng/ml) than those in healthy controls of the general population (164.99±43.16ng/ml, pGaucher-like cells in lung, spleen, and bone marrow. Moreover, lysosomes in PGRN KO mice exhibit a tubular-like appearance. PGRN is required for the lysosomal appearance of GCase and its deficiency leads to GCase accumulation in the cytoplasm. More importantly, recombinant PGRN is therapeutic in various animal models of GD and human fibroblasts from GD patients. Our data demonstrates an unknown association between PGRN and GD and identifies PGRN as an essential factor for GCase's lysosomal localization. These findings not only provide new insight into the pathogenesis of GD, but may also have implications for diagnosis and alternative targeted therapies for GD. Copyright © 2016 Forschungsgesellschaft für Arbeitsphysiologie und Arbeitschutz e.V. Published by Elsevier B.V. All rights reserved.

  11. Biomedical Information Extraction: Mining Disease Associated Genes from Literature

    Huang, Zhong

    2014-01-01

    Disease associated gene discovery is a critical step to realize the future of personalized medicine. However empirical and clinical validation of disease associated genes are time consuming and expensive. In silico discovery of disease associated genes from literature is therefore becoming the first essential step for biomarker discovery to…

  12. Association of Relationship between Periodontal Disease and Cardiovascular Disease.

    Johar, N; Dhodapkar, S V; Kumar, R; Verma, T; Jajoo, A

    2017-04-01

    The present study was undertaken to determine the relationship between periodontal and cardiovascular disease. Previous studies have shown some co-relation between the two conditions. We included 186 patients divided into four groups. First two Groups (A1 & A2) were the patients with cardiac disease (100 in numbers) whilst Groups (B1 & B2) (86 in numbers) were treated as controls (without cardiac disease). Following markers of periodontal disease were assessed - plaque index, calculus index, gingival and periodontal index. Markers of cardiovascular disease included were LDL, HDL, total cholesterol and CRP. Ramfjords periodontal index was used to assess the extent of periodontal disease. In the present study there was a significant increase in CRP levels in Group A1 (CVD + PD) compared to controls and overall the two cardiac groups showed a significant increase in CRP compared to controls. There was a non-significant change in lipid profile markers (LDL, HDL and total cholesterol). Periodontal Disease Index (PDI) was also increased in Group A1 compared to other groups except Group B1 and overall in cardiac groups compared to non-cardiac (PD) groups. In this study no correlation between periodontal and cardiovascular disease was found. This may be due intake of statins by few patients in Group A with a confirmed diagnosis of cardiovascular disease.

  13. Infectious agents are associated with psychiatric diseases

    Daniela Lydia Krause

    2012-01-01

    Full Text Available There are several infectious agents in the environment that can cause persistent infections in the host. They usually cause their symptoms shortly after first infection and later persist as silent viruses and bacteria within the body. However, these chronic infections may play an important role in the pathogenesis of schizophrenia and Tourette’s syndrome (TS. We investigated the distribution of different neurotrophic infectious agents in TS, schizophrenia and controls. A total of 93 individuals were included (schizophrenic patients, Tourette patients and controls. We evaluated antibodies against cytomegalovirus (CMV, herpes-simplex virus (HSV, Epstein-Barr virus, Toxoplasma, Mycoplasma and Chlamydia trachomatis/pneumoniae. By comparing schizophrenia and TS, we found a higher prevalence of HSV (P=0.017 and CMV (P=0.017 antibodies in schizophrenic patients. Considering the relationship between schizophrenia, TS and healthy controls, we showed that there are associations for Chlamydia trachomatis (P=0.007, HSV (P=0.027 and CMV (P=0.029. When all measured viruses, bacteria and protozoa were combined, schizophrenic patients had a higher rate of antibodies to infectious agents than TS patients (P=0.049. Tourette and schizophrenic patients show a different vulnerability to infectious agents. Schizophrenic patients were found to have a higher susceptibility to viral infections than individuals with TS. This finding might point to a modification in special immune parameters in these diseases.

  14. The Association between Hidradenitis Suppurativa and Crohn's Disease

    van der Zee, Hessel H; Horvath, Barbara; Jemec, Gregor B E

    2016-01-01

    Hidradenitis suppurativa is a chronic, autoinflammatory skin disease. Shalom et al. demonstrate in a large cross-sectional study an association between Crohn's disease and hidradenitis suppurativa, but not with ulcerative colitis. This association supports the hypothesis that a similar pathogenic...... mechanism contributes to both diseases, providing new possibilities for functional studies and therapy development....

  15. Celiac disease : moving from genetic associations to causal variants

    Hrdlickova, B.; Westra, H-J; Franke, L.; Wijmenga, C.

    Genome-wide association studies are providing insight into the genetic basis of common complex diseases: more than 1150 genetic loci [2165 unique single nucleotide polymorphisms (SNPs)] have recently been associated to 159 complex diseases. The hunt for genes contributing to immune-related diseases

  16. Graves' Disease Associated with Cerebrovascular Disease and Antiphospholipid Antibody Syndrome

    Ines Khochtali

    2010-01-01

    have increased risk for developing thromboembolic accidents, which are favoured by a simultaneous presence of antiphospholipid antibodies syndrome. in this paper, we describe the case of a patient with Graves' disease, who developed strokes with antiphospholipid antibodies syndrome.

  17. Sitting Time and Associated Factors among Chronic Disease ...

    Sitting Time and Associated Factors among Chronic Disease Patients in Cambodia, ... comprising those who had cardiovascular disease (n = 804), hypertension (n ... physical activity, no problem drinking and not having depression symptoms.

  18. Fish and Shellfish Associated Disease Outbreaks.

    Levin, M.

    1978-01-01

    Presents a literature review of disease outbreaks related to fish and shellfish, covering publications of 1976-77. This review covers the chemical, bacterial, and viral diseases that are transmitted by fish and shellfish. A list of 50 references is also presented. (HM)

  19. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  20. Periodontal disease and non-communicable diseases. Strength of bidirectional associations

    Kassier, SM

    2016-01-01

    Periodontal disease (PD), along with cardiovascular and circulatory disease, diabetes mellitus, chronic respiratory disease and obesity, are globally regarded as some of the major non-communicable diseases (NCDs). The association between PD and these systemic illnesses is described as bidirectional. Gaining an understanding of the strength of the proposed associations between these diseases is important, as it will enable health professionals to identify common risk factors that will allow fo...

  1. Symptoms and biomarkers associated with celiac disease

    Kårhus, Line L; Thuesen, Betina H; Rumessen, Juri J.

    2016-01-01

    OBJECTIVES: To identify possible early predictors (symptoms and biomarkers) of celiac disease, compare symptoms before and after screening, and evaluate the diagnostic efficacy of serologic screening for celiac disease in an adult Danish population. METHODS: This cross-sectional population......-positive individuals 19 months after the clinical evaluation to obtain information on their symptoms and their experience with participation in the screening. RESULTS: Before screening, participants subsequently diagnosed with celiac disease did not differ from the rest of the population with respect to symptoms...... with having been diagnosed and 71% felt better on a gluten-free diet. CONCLUSION: There were no differences in the prevalence of symptoms between participants with and without screening-detected celiac disease, confirming that risk stratification in a general population by symptoms is difficult. The majority...

  2. Travel and migration associated infectious diseases morbidity in Europe, 2008

    Field, Vanessa; Gautret, Philippe; Schlagenhauf, Patricia; Burchard, Gerd-Dieter; Caumes, Eric; Jensenius, Mogens; Castelli, Francesco; Gkrania-Klotsas, Effrossyni; Weld, Leisa; Lopez-Velez, Rogelio; de Vries, Peter; von Sonnenburg, Frank; Loutan, Louis; Parola, Philippe; Simon, Fabrice; Weber, Rainer; Cramer, Jakob; Pérignon, Alice; Odolini, Silvia; Carosi, Giampiero; Chappuis, François

    2010-01-01

    Europeans represent the majority of international travellers and clinicians encountering returned patients have an essential role in recognizing, and communicating travel-associated public health risks. To investigate the morbidity of travel associated infectious diseases in European travellers, we

  3. Travel and migration associated infectious diseases morbidity in Europe, 2008

    Field, V.; Gautret, P.; Schlagenhauf, P.; Burchard, G.D.; Caumes, E.; Jensenius, M.; Castelli, F.; Gkrania-Klotsas, E.; Weld, L.; Lopez-Velez, R.; de Vries, P.; von Sonnenburg, F.; Loutan, L.; Parola, P.

    2010-01-01

    Background: Europeans represent the majority of international travellers and clinicians encountering returned patients have an essential role in recognizing, and communicating travel-associated public health risks. Methods: To investigate the morbidity of travel associated infectious diseases in

  4. Hypertrophic osteoarthropathy associated with alcoholic liver disease without cirrhosis.

    Varju, T; Lesch, M; Adorján, A

    1986-01-01

    Two cases of secondary hypertrophic osteoarthropathy associated with alcoholic liver disease without cirrhosis are reported. Conditions which can be associated with hypertrophic osteoarthropathy and theoretical factors which can play a role in its pathomechanism are briefly discussed.

  5. Infectious Disease Risk Associated with Space Flight

    Pierson, Duane L.

    2010-01-01

    This slide presentation opens with views of the shuttle in various stages of preparation for launch, a few moments after launch prior to external fuel tank separation, a few pictures of the earth,and several pictures of astronomical interest. The presentation reviews the factors effecting the risks of infectious disease during space flight, such as the crew, water, food, air, surfaces and payloads and the factors that increase disease risk, the factors affecting the risk of infectious disease during spaceflight, and the environmental factors affecting immunity, such as stress. One factor in space infectious disease is latent viral reactivation, such as herpes. There are comparisons of the incidence of viral reactivation in space, and in other analogous situations (such as bed rest, or isolation). There is discussion of shingles, and the pain and results of treatment. There is a further discussion of the changes in microbial pathogen characteristics, using salmonella as an example of the increased virulence of microbes during spaceflight. A factor involved in the risk of infectious disease is stress.

  6. Factors associated with gastro-duodenal disease in patients ...

    Background: There is a high prevalence of gastro-duodenal disease in sub Saharan Africa. Peptic ulcer disease in dyspeptic patients, 24.5%, was comparable to prevalence of gastro-duodenal disease among symptomatic individuals in developed countries (12 – 25%). Limited data exists regarding its associated risk ...

  7. Protein-driven inference of miRNA-disease associations

    Mørk, Søren; Pletscher-Frankild, Sune; Palleja, Albert

    2014-01-01

    MicroRNAs (miRNAs) are a highly abundant class of non-coding RNA genes involved in cellular regulation and thus also diseases. Despite miRNAs being important disease factors, miRNA-disease associations remain low in number and of variable reliability. Furthermore, existing databases and prediction...

  8. Association between Precipitation and Diarrheal Disease in Mozambique.

    Horn, Lindsay M; Hajat, Anjum; Sheppard, Lianne; Quinn, Colin; Colborn, James; Zermoglio, Maria Fernanda; Gudo, Eduardo S; Marrufo, Tatiana; Ebi, Kristie L

    2018-04-10

    Diarrheal diseases are a leading cause of morbidity and mortality in Africa. Although research documents the magnitude and pattern of diarrheal diseases are associated with weather in particular locations, there is limited quantification of this association in sub-Saharan Africa and no studies conducted in Mozambique. Our study aimed to determine whether variation in diarrheal disease was associated with precipitation in Mozambique. In secondary analyses we investigated the associations between temperature and diarrheal disease. We obtained weekly time series data for weather and diarrheal disease aggregated at the administrative district level for 1997-2014. Weather data include modeled estimates of precipitation and temperature. Diarrheal disease counts are confirmed clinical episodes reported to the Mozambique Ministry of Health ( n = 7,315,738). We estimated the association between disease counts and precipitation, defined as the number of wet days (precipitation > 1 mm) per week, for the entire country and for Mozambique's four regions. We conducted time series regression analyses using an unconstrained distributed lag Poisson model adjusted for time, maximum temperature, and district. Temperature was similarly estimated with adjusted covariates. Using a four-week lag, chosen a priori, precipitation was associated with diarrheal disease. One additional wet day per week was associated with a 1.86% (95% CI: 1.05-2.67%), 1.37% (95% CI: 0.70-2.04%), 2.09% (95% CI: 1.01-3.18%), and 0.63% (95% CI: 0.11-1.14%) increase in diarrheal disease in Mozambique's northern, central, southern, and coastal regions, respectively. Our study indicates a strong association between diarrheal disease and precipitation. Diarrheal disease prevention efforts should target areas forecast to experience increased rainfall. The burden of diarrheal disease may increase with increased precipitation associated with climate change, unless additional health system interventions are undertaken.

  9. Haematological Problems Associated with Gaucher's Disease ...

    Five recent cases of Gaucher's disease seen at Groote Schuur Hospital illustrate the haematological complications. The main problem is hypersplenism with secondary thrombocytopenia. Two patients underwent splenectomy for this reason, and one gained lasting improvement. None of the more rare haematological ...

  10. Association between alcohol and cardiovascular disease

    Holmes, Michael V; Dale, Caroline E; Zuccolo, Luisa

    2014-01-01

    OBJECTIVE: To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. DESIGN: Mendelian randomisation meta-analysis of 56 epidemiological studies. PARTICIPANTS: 261 991 individuals of European des...

  11. Chronic obstructive pulmonary disease: Association with gastroesophageal reflux disease

    Kim, Young Chul; Oh, Jae Hee; Byun, Joo Nam [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1992-09-15

    Multiple factors including gastroesophageal reflux disease (GERD) were evaluated for a case-control study in Chonnam area to investigate the causative entity of COPD. Data on the multiple causative factors from hospital records and interview survey were analyzed in three groups of COPD (64 cases as case group), normal lung (83 cases as control group 1) and non-COPD lung disease (45 case as control group 2). Smoking status, history of adulthood pulmonary infection and frequent history of URI, socioeconomic status, and GERD were significant different between COPD group and control group 1. Drinking status, physical height of the subjects and GERD were significant different between COPD group and control group 2. If control group 1 was used, odds ratio of GERD and COPD was 5.68 (95% confidence interval, 95% CI: 2.59-12.45) and 4.81 (95% CI: 1.89-10.53) when adjusted by age and smoking status. If control group 2 was used, odds ratio of GERD and COPD was 4.22 (95% CI: 1.69-10.56) and 4.59 (95% CI: 1.64-12.86) when adjusted by alcohol and adulthood respiratory infection status. In summary, there result suggested that GERD might play a causative role in the development of COPD.

  12. Chronic obstructive pulmonary disease: Association with gastroesophageal reflux disease

    Kim, Young Chul; Oh, Jae Hee; Byun, Joo Nam

    1992-01-01

    Multiple factors including gastroesophageal reflux disease (GERD) were evaluated for a case-control study in Chonnam area to investigate the causative entity of COPD. Data on the multiple causative factors from hospital records and interview survey were analyzed in three groups of COPD (64 cases as case group), normal lung (83 cases as control group 1) and non-COPD lung disease (45 case as control group 2). Smoking status, history of adulthood pulmonary infection and frequent history of URI, socioeconomic status, and GERD were significant different between COPD group and control group 1. Drinking status, physical height of the subjects and GERD were significant different between COPD group and control group 2. If control group 1 was used, odds ratio of GERD and COPD was 5.68 (95% confidence interval, 95% CI: 2.59-12.45) and 4.81 (95% CI: 1.89-10.53) when adjusted by age and smoking status. If control group 2 was used, odds ratio of GERD and COPD was 4.22 (95% CI: 1.69-10.56) and 4.59 (95% CI: 1.64-12.86) when adjusted by alcohol and adulthood respiratory infection status. In summary, there result suggested that GERD might play a causative role in the development of COPD

  13. Aortopathy associated with congenital heart disease: A current literature review

    Katrien Francois

    2015-01-01

    Full Text Available In patients born with congenital heart disease, dilatation of the aorta is a frequent feature at presentation and during follow-up after surgical intervention. This review provides an overview of the pathologies associated with aortopathy, and discusses the current knowledge on pathophysiology, evolution, and treatment guidelines of the aortic disease associated with congenital heart defects.

  14. Aortopathy associated with congenital heart disease: A current literature review

    Francois, Katrien

    2015-01-01

    In patients born with congenital heart disease, dilatation of the aorta is a frequent feature at presentation and during follow-up after surgical intervention. This review provides an overview of the pathologies associated with aortopathy, and discusses the current knowledge on pathophysiology, evolution, and treatment guidelines of the aortic disease associated with congenital heart defects

  15. Intergenerational Associations of Chronic Disease and Polycystic Ovary Syndrome

    Davies, Michael J.; Marino, Jennifer L.; Willson, Kristyn J.; March, Wendy A.; Moore, Vivienne M.

    2011-01-01

    BACKGROUND: Polycystic ovary syndrome (PCOS) is a common female endocrine disorder of heterogeneous clinical presentation, high disease burden, and unknown aetiology. The disease and associated conditions cluster in families, suggesting that PCOS may be the reproductive consequence of underlying chronic disease susceptibility. OBJECTIVE: To determine whether parents of young women with PCOS were more likely to have a history of diabetes or cardiovascular disease in later adult life. DESIGN, S...

  16. Neural Inductive Matrix Completion for Predicting Disease-Gene Associations

    Hou, Siqing

    2018-05-21

    In silico prioritization of undiscovered associations can help find causal genes of newly discovered diseases. Some existing methods are based on known associations, and side information of diseases and genes. We exploit the possibility of using a neural network model, Neural inductive matrix completion (NIMC), in disease-gene prediction. Comparing to the state-of-the-art inductive matrix completion method, using neural networks allows us to learn latent features from non-linear functions of input features. Previous methods use disease features only from mining text. Comparing to text mining, disease ontology is a more informative way of discovering correlation of dis- eases, from which we can calculate the similarities between diseases and help increase the performance of predicting disease-gene associations. We compare the proposed method with other state-of-the-art methods for pre- dicting associated genes for diseases from the Online Mendelian Inheritance in Man (OMIM) database. Results show that both new features and the proposed NIMC model can improve the chance of recovering an unknown associated gene in the top 100 predicted genes. Best results are obtained by using both the new features and the new model. Results also show the proposed method does better in predicting associated genes for newly discovered diseases.

  17. Semantics based approach for analyzing disease-target associations.

    Kaalia, Rama; Ghosh, Indira

    2016-08-01

    A complex disease is caused by heterogeneous biological interactions between genes and their products along with the influence of environmental factors. There have been many attempts for understanding the cause of these diseases using experimental, statistical and computational methods. In the present work the objective is to address the challenge of representation and integration of information from heterogeneous biomedical aspects of a complex disease using semantics based approach. Semantic web technology is used to design Disease Association Ontology (DAO-db) for representation and integration of disease associated information with diabetes as the case study. The functional associations of disease genes are integrated using RDF graphs of DAO-db. Three semantic web based scoring algorithms (PageRank, HITS (Hyperlink Induced Topic Search) and HITS with semantic weights) are used to score the gene nodes on the basis of their functional interactions in the graph. Disease Association Ontology for Diabetes (DAO-db) provides a standard ontology-driven platform for describing genes, proteins, pathways involved in diabetes and for integrating functional associations from various interaction levels (gene-disease, gene-pathway, gene-function, gene-cellular component and protein-protein interactions). An automatic instance loader module is also developed in present work that helps in adding instances to DAO-db on a large scale. Our ontology provides a framework for querying and analyzing the disease associated information in the form of RDF graphs. The above developed methodology is used to predict novel potential targets involved in diabetes disease from the long list of loose (statistically associated) gene-disease associations. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Prevalence of periodontal disease, its association with systemic diseases and prevention

    Nazir, Muhammad Ashraf

    2017-01-01

    Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular di...

  19. Parkinson's disease-associated melanin steal.

    Hinz, Marty; Stein, Alvin; Cole, Ted

    2014-01-01

    Urinary dopamine fluctuations in the competitive inhibition state were first documented in 2009. At that time, it was noted that progressively higher daily dosing values of L-tyrosine decreased the magnitude of these fluctuations. While extensive statistical analysis has been performed by the authors since 2004, it was not until 2012 that a plausible explanation was formulated. In the process, correlations with L-tyrosine administration and the on/off effect of Parkinson's disease were defined. This paper documents the current knowledge with regard to the management of retrograde phase 1 dopamine fluctuations and investigates the hypothesis that they are caused by a melanin steal phenomenon.

  20. Active Crohn's disease is associated with low vitamin D levels

    Jørgensen, Søren Peter; Hvas, Christian Lodberg; Agnholt, Jørgen

    2013-01-01

    activity is associated with low vitamin D levels. METHODS: In a cross-sectional study of 182 CD patients and 62 healthy controls, we measured serum 25-OH vitamin D. Stratified analysis was used to compare 25-OH vitamin D levels with Crohn's disease activity index, C-reactive protein, smoking status, intake...... of oral vitamin D supplements and seasonal variation in CD patients and healthy controls. RESULTS: Serum 25-OH vitamin D was inversely associated with disease activity: Median 25-OH vitamin D levels of Crohn's disease in remission, mildly, and moderately active diseases evaluated by Crohn's disease...... D levels (51nmol/l) than patients who did not smoke (76nmol/l), plevels. CONCLUSIONS: Active Crohn's disease was associated with low serum 25-OH vitamin D. Patients who smoked had lower 25-OH...

  1. Association Between Progranulin and Gaucher Disease

    Jinlong Jian

    2016-09-01

    Interpretation: Our data demonstrates an unknown association between PGRN and GD and identifies PGRN as an essential factor for GCase's lysosomal localization. These findings not only provide new insight into the pathogenesis of GD, but may also have implications for diagnosis and alternative targeted therapies for GD.

  2. Congenital Heart Diseases associated with Identified Syndromes ...

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  3. Cervical spine and crystal-associated diseases: imaging findings

    Feydy, Antoine; Chevrot, Alain; Drape, Jean-Luc [Hopital Cochin, Service de Radiologie B, Paris Cedex 14 (France); Liote, Frederic [Hopital Lariboisiere, Federation de Rhumatologie, Paris (France); Carlier, Robert [Hopital Raymond Poincare, Radiologie, Garches (France)

    2006-02-01

    The cervical spine may be specifically involved in crystal-associated arthropathies. In this article, we focus on the three common crystals and diseases: hydroxyapatite crystal deposition disease, calcium pyrophosphate dihydrate (CPPD) deposition disease, and monosodium urate crystals (gout). The cervical involvement in crystal-associated diseases may provoke a misleading clinical presentation with acute neck pain, fever, or neurological symptoms. Imaging allows an accurate diagnosis in typical cases with calcific deposits and destructive lesions of the discs and joints. Most of the cases are related to CPPD or hydroxyapatite crystal deposition; gout is much less common. (orig.)

  4. Cervical spine and crystal-associated diseases: imaging findings

    Feydy, Antoine; Chevrot, Alain; Drape, Jean-Luc; Liote, Frederic; Carlier, Robert

    2006-01-01

    The cervical spine may be specifically involved in crystal-associated arthropathies. In this article, we focus on the three common crystals and diseases: hydroxyapatite crystal deposition disease, calcium pyrophosphate dihydrate (CPPD) deposition disease, and monosodium urate crystals (gout). The cervical involvement in crystal-associated diseases may provoke a misleading clinical presentation with acute neck pain, fever, or neurological symptoms. Imaging allows an accurate diagnosis in typical cases with calcific deposits and destructive lesions of the discs and joints. Most of the cases are related to CPPD or hydroxyapatite crystal deposition; gout is much less common. (orig.)

  5. Coeliac Disease With Rheumatoid Arthritis: An Unusual Association.

    Warjri, Synrang Batngen; Ete, Tony; Beyong, Taso; Barman, Bhupen; Lynrah, Kyrshanlang G; Nobin, Hage; Perme, Obang

    2015-02-01

    Coeliac disease has a significant association with many autoimmune disorders. It shares many common genetic and immunological features with other autoimmune diseases. Gluten, a gut-derived antigen, is the driver of the autoimmunity seen in coeliac disease. The altered intestinal permeability found in coeliac patients, coupled with a genetic predisposition and altered immunological response, may result in a systemic immune response that is directed against sites other than the gut. Gut-derived antigens may have a role in the pathogenesis of other autoimmune disorders including rheumatoid arthritis. Here we report a case of adult coeliac disease associated with rheumatoid arthritis.

  6. Significant Association of Streptococcus bovis with Malignant Gastrointestinal Diseases

    Salah Shanan

    2011-01-01

    Full Text Available Streptococcus bovis is a Gram-positive bacterium causing serious human infections, including endocarditis and bacteremia, and is usually associated with underlying disease. The aims of the current study were to compare prevalence of the bacterium associated with malignant and nonmalignant gastrointestinal diseases and to determine the susceptibility of the isolated strains to different antimicrobial agents. The result showed that the prevalence of S. bovis in stool specimens from patients with malignant or with nonmalignant gastrointestinal diseases was statistically significant. This result may support the idea that there is correlation between S. bovis and the malignant gastrointestinal diseases.

  7. Linking disease associations with regulatory information in the human genome

    Schaub, M. A.; Boyle, A. P.; Kundaje, A.; Batzoglou, S.; Snyder, M.

    2012-01-01

    Genome-wide association studies have been successful in identifying single nucleotide polymorphisms (SNPs) associated with a large number of phenotypes. However, an associated SNP is likely part of a larger region of linkage disequilibrium. This makes it difficult to precisely identify the SNPs that have a biological link with the phenotype. We have systematically investigated the association of multiple types of ENCODE data with disease-associated SNPs and show that there is significant enrichment for functional SNPs among the currently identified associations. This enrichment is strongest when integrating multiple sources of functional information and when highest confidence disease-associated SNPs are used. We propose an approach that integrates multiple types of functional data generated by the ENCODE Consortium to help identify "functional SNPs" that may be associated with the disease phenotype. Our approach generates putative functional annotations for up to 80% of all previously reported associations. We show that for most associations, the functional SNP most strongly supported by experimental evidence is a SNP in linkage disequilibrium with the reported association rather than the reported SNP itself. Our results show that the experimental data sets generated by the ENCODE Consortium can be successfully used to suggest functional hypotheses for variants associated with diseases and other phenotypes.

  8. Linking disease associations with regulatory information in the human genome

    Schaub, M. A.

    2012-09-01

    Genome-wide association studies have been successful in identifying single nucleotide polymorphisms (SNPs) associated with a large number of phenotypes. However, an associated SNP is likely part of a larger region of linkage disequilibrium. This makes it difficult to precisely identify the SNPs that have a biological link with the phenotype. We have systematically investigated the association of multiple types of ENCODE data with disease-associated SNPs and show that there is significant enrichment for functional SNPs among the currently identified associations. This enrichment is strongest when integrating multiple sources of functional information and when highest confidence disease-associated SNPs are used. We propose an approach that integrates multiple types of functional data generated by the ENCODE Consortium to help identify "functional SNPs" that may be associated with the disease phenotype. Our approach generates putative functional annotations for up to 80% of all previously reported associations. We show that for most associations, the functional SNP most strongly supported by experimental evidence is a SNP in linkage disequilibrium with the reported association rather than the reported SNP itself. Our results show that the experimental data sets generated by the ENCODE Consortium can be successfully used to suggest functional hypotheses for variants associated with diseases and other phenotypes.

  9. Nervous system disease associated with dominant cellular radiosensitivity

    Kidson, C.; Chen, P.; Imray, F.P.; Gipps, E.

    1983-01-01

    Ionizing radiation sensitivity has been demonstrated in the following neurological diseases: sporadic and familial Alzheimer's disease, familial non-specific dementia, amyotrophic lateral sclerosis and Parkinsonism dementia of Guam, Huntington's disease, multiple sclerosis. Family studies in many cases give data consistent with dominant genetics, as does cell fusion analysis in the one disease so studied. In no case was there an absolute association between radiosensitivity and a given neurological disease. It is proposed that the underlying mutations are in genes controlling facets of nervous or immune system differentiation and development. 15 references, 2 tables

  10. Solar radiation is inversely associated with inflammatory bowel disease admissions.

    Jaime, Francisca; Riutort, Maria C; Alvarez-Lobos, Manuel; Hoyos-Bachiloglu, Rodrigo; Camargo, Carlos A; Borzutzky, Arturo

    To explore the associations between latitude and solar radiation with inflammatory bowel disease admission rates in Chile, the country with the largest variation in solar radiation in the world. This is an ecological study, which included data on all hospital-admitted population for inflammatory bowel disease between 2001 and 2012, according to different latitudes and solar radiation exposures in Chile. The data were acquired from the national hospital discharge database from the Department of Health Statistics and Information of the Chilean Ministry of Health. Between 2001 and 2012 there were 12,869 admissions due to inflammatory bowel disease (69% ulcerative colitis, 31% Crohn's disease). Median age was 36 years (IQR: 25-51); 57% were female. The national inflammatory bowel disease admission rate was 6.52 (95% CI: 6.40-6.63) per 100,000 inhabitants with increasing rates over the 12-year period. In terms of latitude, the highest admission rates for pediatric ulcerative colitis and Crohn's disease, as well as adult ulcerative colitis, were observed in the southernmost region with lowest annual solar radiation. Linear regression analysis showed that regional solar radiation was inversely associated with inflammatory bowel disease admissions in Chile (β: -.44, p = .03). Regional solar radiation was inversely associated with inflammatory bowel disease admission rates in Chile; inflammatory bowel disease admissions were highest in the southernmost region with lowest solar radiation. Our results support the potential role of vitamin D deficiency on inflammatory bowel disease flares.

  11. Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

    Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

    2016-07-01

    Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy.

  12. Mode of delivery is not associated with celiac disease

    Sander, Stine Dydensborg; Hansen, Anne Vinkel; Størdal, Ketil

    2018-01-01

    Purpose: The purpose of this study was to investigate the association between mode of delivery and the risk of celiac disease in two large population-based birth cohorts with different prevalence of diagnosed celiac disease. Patients and methods: This is an observational register-based cohort study...... were born in Norway from January 1, 2004 to December 31, 2012. Results: We included 1,051,028 children from Denmark. Cesarean sections were registered for 196,512 children (18.9%). Diagnosed celiac disease was registered for 1,395 children (0.13%). We included 537,457 children from Norway. Cesarean...... sections were registered for 90,128 children (16.8%). Diagnosed celiac disease was registered for 1,919 children (0.35%). We found no association between the mode of delivery and the risk of diagnosed celiac disease. The adjusted odds ratio for celiac disease for children delivered by any type of cesarean...

  13. Maternal periodontal disease is associated with oxidative stress during pregnancy.

    Hickman, M Ashley; Boggess, Kim A; Moss, Kevin L; Beck, James D; Offenbacher, Steven

    2011-03-01

    We sought to determine if maternal periodontal disease is associated with oxidative stress as measured by serum 8-isoprostane. A secondary analysis was conducted using prospective data from the Oral Conditions and Pregnancy Study. Healthy women enrolled at periodontal disease status was categorized as healthy, mild, or moderate to severe by clinical criteria. Maternal serum was analyzed for 8-isoprostane using ultrasensitive enzyme-linked immunosorbent assay. Elevated 8-isoprostane level was defined as ≥ 75th percentile. Maternal factors associated with elevated 8-isoprostane were determined using chi-square or T test. Multivariable logistic regression was used to assess association between elevated 8-isoprostane and maternal factors. Seven hundred ninety-one women had complete data. Median (interquartile) 8-isoprostane serum level was 1806 (16 to 81,870) pg/dL. Using bivariate analysis, maternal age, race, marital status, utilization of public assistance, and mild or moderate to severe periodontal disease were associated with elevated serum 8-isoprostane. Using logistic regression, moderate to severe periodontal disease (adjusted odds ratio 2.9, 95% confidence interval: 1.7 to 5.0) remained significantly associated with an elevated serum 8-isoprostane level. Maternal periodontal disease is associated with oxidative stress during pregnancy. Further study is needed to determine the role of maternal oxidative stress in periodontal disease-associated adverse pregnancy outcomes. © Thieme Medical Publishers.

  14. [Neuroimmunological diseases associated with VGKC complex antibodies].

    Watanabe, Osamu

    2013-05-01

    Antibodies to voltage-gated potassium channels(VGKC) were first identified by radioimmunoassay of radioisotope labeled alpha-dendrotoxin-VGKCs solubilized from rabbit brain. These antibodies were found only in a proportion of patients with acquired neuromyotonia (Isaacs' syndrome). VGKC antibodies were also detected in Morvan's syndrome and in a form of autoimmune limbic encephalitis. Recent studies indicated that the "VGKC" antibodies are mainly directed toward associated proteins(for example LGI-1, Caspr-2) that complex with the VGKCs themselves. The "VGKC" antibodies are now usually known as VGKC-complex antibodies. In general, LGI-1 antibodies are most common in limbic encephalitis with SIADH. Caspr-2 antibodies are present in the majority of patients with Morvan's syndrome. These patients develop combinations of CNS symptoms, autonomic dysfunction, and peripheral nerve hyperexcitability.

  15. Rheumatoid arthritis associated interstitial lung disease: a review

    Deborah Assayag

    2014-04-01

    Full Text Available Rheumatoid arthritis is a common inflammatory disease affecting about 1% of the population. Interstitial lung disease is a serious and frequent complication of rheumatoid arthritis. Rheumatoid arthritis associated interstitial lung disease (RA-ILD is characterized by several histopathologic subtypes. This article reviews the proposed pathogenesis and risk factors for RA-ILD. We also outline the important steps involved in the work-up of RA-ILD and review the evidence for treatment and prognosis.

  16. Periodontal disease may be associated with oral and gastrointestinal cancer.

    Nugent, Zoann

    2010-12-01

    The association between periodontal disease and cancer:a review of the literature. Fitzpatrick SG, Katz J.J Dent 2010;38(2):83-95. Epub 2009 Nov 4. Zoann Nugent, Ph. D. To assess the published research to date on the relationship between periodontal disease and cancer. Information not available. Comprehensive literature review. Level 3: Other evidence. Grade C: Consensus, disease-oriented evidence, expert opinion.

  17. Refractory disease in antineutrophil cytoplasmic antibodies associated vasculitis

    Rutgers, Abraham; Kallenberg, Cornelis

    Purpose of review Induction treatment of antineutrophil cytoplasmic antibodies (ANCA) associated vasculitis (AAV) is not always successful and nonresponding patients are considered refractory. Recent findings Refractory disease should be subdefined to the treatment that was received.

  18. Association of Helicobacter pylori infection with peptic ulcer disease ...

    Background: Helicobacter pylori infection has been identified as an important risk factor for the development of peptic ulcer disease and is probably the most important cause of relapse in those previously treated for peptic ulcer disease. The aim of this study was to determine the association of Helicobacter pylori infection as ...

  19. Motor neuron disease associated with carcinoma | Gritzman | South ...

    Paraneoplastic complications are obscure and difficult to understand. The association of motor neuron disease and carcinoma may sometimes be more than coincidental, and 2 cases are described. One patient had motor neuron disease, limbic encephalitis (a recognized paraneoplastic disorder) and carcinoma of the ...

  20. National Tay-Sachs and Allied Diseases Association, Inc.

    Exceptional Parent, 1977

    1977-01-01

    Reviewed are the history and organization, purpose and programs, and public services of the National Tay-Sachs and Allied Diseases Association, an organization geared toward eradicating Tay-Sachs disease (a hereditary disorder affecting primarily Jewish infants which generally leads to deterioration and death by the child's fifth year). (SBH)

  1. Genetic Variations and their Association with Diseases among ...

    genetics plays in disease, death and infections. The mode of study involved a combination of a retrospective study and the analysis of genetic variation among Kenyan ethnic populations using ABO blood group system. The results showed that there was association between allele frequencies of ABO system and disease ...

  2. The association of congenital neuroblastoma and congenital heart disease

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  3. Association of Endodontic Lesions with Coronary Artery Disease

    Liljestrand, J. M.; Mäntylä, P.; Paju, S.; Buhlin, K.; Kopra, K. A. E.; Persson, G. R.; Hernandez, M.; Nieminen, M. S.; Sinisalo, J.; Tjäderhane, L.; Pussinen, P. J.

    2016-01-01

    An endodontic lesion (EL) is a common manifestation of endodontic infection where Porphyromonas endodontalis is frequently encountered. EL may associate with increased risk for coronary artery disease (CAD) via similar pathways as marginal periodontitis. The aim of this cross-sectional study was to delineate the associations between EL and CAD. Subgingival P. endodontalis, its immune response, and serum lipopolysaccharide were examined as potential mediators between these 2 diseases. The Finn...

  4. Spontaneous globe luxation associated with chronic obstructive pulmonary disease

    M Ashok Kumar

    2012-01-01

    Full Text Available Spontaneous globe luxation is a rarely reported condition which can lead to complications like optic neuropathy. Common causes are thyroid eye disease, shallow orbit and floppy eyelid syndrome. We report a case of spontaneous globe luxation with the onset and severity associated with chronic obstructive pulmonary disease (COPD. To our knowledge, this is the first case of spontaneous globe luxation associated with COPD.

  5. Prevalence of periodontal disease, its association with systemic diseases and prevention.

    Nazir, Muhammad Ashraf

    2017-01-01

    Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular disease, diabetes, and adverse pregnancy outcomes. Periodontal disease is likely to cause 19% increase in the risk of cardiovascular disease, and this increase in relative risk reaches to 44% among individuals aged 65 years and over. Type 2 diabetic individuals with severe form of periodontal disease have 3.2 times greater mortality risk compared with individuals with no or mild periodontitis. Periodontal therapy has been shown to improve glycemic control in type 2 diabetic subjects. Periodontitis is related to maternal infection, preterm birth, low birth weight, and preeclampsia. Oral disease prevention strategies should be incorporated in chronic systemic disease preventive initiatives to curtail the burden of disease in populations. The reduction in the incidence and prevalence of periodontal disease can reduce its associated systemic diseases and can also minimize their financial impact on the health-care systems. It is hoped that medical, dental practitioners, and other health-care professionals will get familiar with perio-systemic link and risk factors, and need to refer to the specialized dental or periodontal care.

  6. Association of periodontitis and chronic kidney disease in dogs

    S. U. Nabi

    2014-06-01

    Full Text Available Aim: The purpose of our study is to study the etiopathogenesis of periodontitis in chronic kidney disease and to identify a correlation between periodontitis and chronic kidney disease, with the help of periodontal exaamination, ultrasonographic and hematobiochemical analysis. Materials and Methods: 46 dogs with renal failure were studied and classified as presenting a slight (56.52%, moderate (36.95% and severe (47.8% degree of periodontal disease. Results: Marked gingival recession involving whole maxillary dental arcade, Oral mucosa ulcers and tissue necrosis and mobility of mandibular incisors was observed in dogs with chronic kidney disease. Dogs with normal renal function were observed to have minimal gingival recession of the mandibular teeth only. Conclusion: In view of the causative association between periodontal infection, generalized inflammation and important systemic diseases like chronic kidney disease, we hypothesize that targeted prophylaxis and careful treatment of oral diseases can prevent the progression of renal failure

  7. Periodontal disease severity is associated with micronutrient intake.

    Luo, P-P; Xu, H-S; Chen, Y-W; Wu, S-P

    2018-03-06

    This study aimed to examine if specific micronutrients were associated with periodontal disease using data from the US National Health and Nutrition Examination Survey (NHANES) from 2011 to 2014. Participants who were aged 30 years or more and received complete periodontal examinations were included. Regression analyses were performed to determine associations of variables of interest with periodontal disease. Data of 6415 NHANES participants were included in the analysis. Multivariable analysis revealed that less intake of vitamin A (adjusted odds ratio (aOR) = 1.784), vitamin B1 (aOR = 1.334), vitamin C (aOR = 1.401), vitamin E (aOR = 1.576), iron (aOR = 1.234), folate (aOR = 1.254) and phosphorus (aOR = 1.280) was associated with increased severity of periodontal disease. Compared with the highest level of vitamin D intake, the second highest level of vitamin D intake was associated with lower severity of periodontal disease (aOR = 0.727). Insufficient intake of vitamin A, B1, C and E, iron, folate and phosphorus was significantly associated with severity of periodontal disease. Results of the present study suggest that the above micronutrients may be increased in the diet or taken as dietary supplements in order to reduce severity of periodontal disease. © 2018 Australian Dental Association.

  8. Extended HLA-D region haplotype associated with celiac disease

    Howell, M.D.; Smith, J.R.; Austin, R.K.; Kelleher, D.; Nepom, G.T.; Volk, B.; Kagnoff, M.F.

    1988-01-01

    Celiac disease has one of the strongest associations with HLA (human leukocyte antigen) class II markers of the known HLA-linked diseases. This association is primarily with the class II serologic specificities HLA-DR3 and -DQw2. The authors previously described a restriction fragment length polymorphism (RFLP) characterized by the presence of a 4.0-kilobase Rsa I fragment derived from an HLA class II β-chain gene, which distinguishes the class II HLA haplotype of celiac disease patients from those of many serologically matched controls. They now report the isolation of this β-chain gene from a bacteriophage genomic library constructed from the DNA of a celiac disease patient. Based on restriction mapping and differential hybridization with class II cDNA and oligonucleotide probes, this gene was identified as one encoding an HLA-DP β-chain. This celiac disease-associated HLA-DP β-chain gene was flanked by HLA-DP α-chain genes and, therefore, was probably in its normal chromosomal location. The HLA-DPα-chain genes of celiac disease patients also were studied by RFLP analysis. Celiac disease is associated with a subset of HLA-DR3, -DQw2 haplotypes characterized by HLA-DP α- and β-chain gene RFLPs. Within the celiac-disease patient population, the joint segregation of these HLA-DP genes with those encoding the serologic specificities HLA-DR3 and -DQw2 indicates: (i) that the class II HLA haplotype associated with celiac disease is extended throughout the entire HLA-D region, and (ii) that celiac-disease susceptibility genes may reside as far centromeric on this haplotype as the HLA-DP subregion

  9. Extended HLA-D region haplotype associated with celiac disease

    Howell, M.D.; Smith, J.R.; Austin, R.K.; Kelleher, D.; Nepom, G.T.; Volk, B.; Kagnoff, M.F.

    1988-01-01

    Celiac disease has one of the strongest associations with HLA (human leukocyte antigen) class II markers of the known HLA-linked diseases. This association is primarily with the class II serologic specificities HLA-DR3 and -DQw2. The authors previously described a restriction fragment length polymorphism (RFLP) characterized by the presence of a 4.0-kilobase Rsa I fragment derived from an HLA class II ..beta..-chain gene, which distinguishes the class II HLA haplotype of celiac disease patients from those of many serologically matched controls. They now report the isolation of this ..beta..-chain gene from a bacteriophage genomic library constructed from the DNA of a celiac disease patient. Based on restriction mapping and differential hybridization with class II cDNA and oligonucleotide probes, this gene was identified as one encoding an HLA-DP ..beta..-chain. This celiac disease-associated HLA-DP ..beta..-chain gene was flanked by HLA-DP ..cap alpha..-chain genes and, therefore, was probably in its normal chromosomal location. The HLA-DP..cap alpha..-chain genes of celiac disease patients also were studied by RFLP analysis. Celiac disease is associated with a subset of HLA-DR3, -DQw2 haplotypes characterized by HLA-DP ..cap alpha..- and ..beta..-chain gene RFLPs. Within the celiac-disease patient population, the joint segregation of these HLA-DP genes with those encoding the serologic specificities HLA-DR3 and -DQw2 indicates: (i) that the class II HLA haplotype associated with celiac disease is extended throughout the entire HLA-D region, and (ii) that celiac-disease susceptibility genes may reside as far centromeric on this haplotype as the HLA-DP subregion.

  10. Inductive matrix completion for predicting gene-disease associations.

    Natarajan, Nagarajan; Dhillon, Inderjit S

    2014-06-15

    Most existing methods for predicting causal disease genes rely on specific type of evidence, and are therefore limited in terms of applicability. More often than not, the type of evidence available for diseases varies-for example, we may know linked genes, keywords associated with the disease obtained by mining text, or co-occurrence of disease symptoms in patients. Similarly, the type of evidence available for genes varies-for example, specific microarray probes convey information only for certain sets of genes. In this article, we apply a novel matrix-completion method called Inductive Matrix Completion to the problem of predicting gene-disease associations; it combines multiple types of evidence (features) for diseases and genes to learn latent factors that explain the observed gene-disease associations. We construct features from different biological sources such as microarray expression data and disease-related textual data. A crucial advantage of the method is that it is inductive; it can be applied to diseases not seen at training time, unlike traditional matrix-completion approaches and network-based inference methods that are transductive. Comparison with state-of-the-art methods on diseases from the Online Mendelian Inheritance in Man (OMIM) database shows that the proposed approach is substantially better-it has close to one-in-four chance of recovering a true association in the top 100 predictions, compared to the recently proposed Catapult method (second best) that has bigdata.ices.utexas.edu/project/gene-disease. © The Author 2014. Published by Oxford University Press.

  11. Disease-associated mutations that alter the RNA structural ensemble.

    Matthew Halvorsen

    2010-08-01

    Full Text Available Genome-wide association studies (GWAS often identify disease-associated mutations in intergenic and non-coding regions of the genome. Given the high percentage of the human genome that is transcribed, we postulate that for some observed associations the disease phenotype is caused by a structural rearrangement in a regulatory region of the RNA transcript. To identify such mutations, we have performed a genome-wide analysis of all known disease-associated Single Nucleotide Polymorphisms (SNPs from the Human Gene Mutation Database (HGMD that map to the untranslated regions (UTRs of a gene. Rather than using minimum free energy approaches (e.g. mFold, we use a partition function calculation that takes into consideration the ensemble of possible RNA conformations for a given sequence. We identified in the human genome disease-associated SNPs that significantly alter the global conformation of the UTR to which they map. For six disease-states (Hyperferritinemia Cataract Syndrome, beta-Thalassemia, Cartilage-Hair Hypoplasia, Retinoblastoma, Chronic Obstructive Pulmonary Disease (COPD, and Hypertension, we identified multiple SNPs in UTRs that alter the mRNA structural ensemble of the associated genes. Using a Boltzmann sampling procedure for sub-optimal RNA structures, we are able to characterize and visualize the nature of the conformational changes induced by the disease-associated mutations in the structural ensemble. We observe in several cases (specifically the 5' UTRs of FTL and RB1 SNP-induced conformational changes analogous to those observed in bacterial regulatory Riboswitches when specific ligands bind. We propose that the UTR and SNP combinations we identify constitute a "RiboSNitch," that is a regulatory RNA in which a specific SNP has a structural consequence that results in a disease phenotype. Our SNPfold algorithm can help identify RiboSNitches by leveraging GWAS data and an analysis of the mRNA structural ensemble.

  12. Intergenic disease-associated regions are abundant in novel transcripts.

    Bartonicek, N; Clark, M B; Quek, X C; Torpy, J R; Pritchard, A L; Maag, J L V; Gloss, B S; Crawford, J; Taft, R J; Hayward, N K; Montgomery, G W; Mattick, J S; Mercer, T R; Dinger, M E

    2017-12-28

    Genotyping of large populations through genome-wide association studies (GWAS) has successfully identified many genomic variants associated with traits or disease risk. Unexpectedly, a large proportion of GWAS single nucleotide polymorphisms (SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functional evaluation. While some of these risk-susceptibility regions encompass cis-regulatory sites, their transcriptional potential has never been systematically explored. To detect rare tissue-specific expression, we employed the transcript-enrichment method CaptureSeq on 21 human tissues to identify 1775 multi-exonic transcripts from 561 intronic and intergenic haploblocks associated with 392 traits and diseases, covering 73.9 Mb (2.2%) of the human genome. We show that a large proportion (85%) of disease-associated haploblocks express novel multi-exonic non-coding transcripts that are tissue-specific and enriched for GWAS SNPs as well as epigenetic markers of active transcription and enhancer activity. Similarly, we captured transcriptomes from 13 melanomas, targeting nine melanoma-associated haploblocks, and characterized 31 novel melanoma-specific transcripts that include fusion proteins, novel exons and non-coding RNAs, one-third of which showed allelically imbalanced expression. This resource of previously unreported transcripts in disease-associated regions ( http://gwas-captureseq.dingerlab.org ) should provide an important starting point for the translational community in search of novel biomarkers, disease mechanisms, and drug targets.

  13. Pulmonary hypertension associated with lung diseases and hypoxemia.

    Cuttica, Michael J

    2016-05-01

    Pulmonary hypertension that develops in the setting of underlying lung diseases such as COPD or idiopathic pulmonary fibrosis (IPF) is associated with decreased functional status, worsening hypoxemia and quality of life, and increased mortality. This complication of lung disease is complex in its origin and carries a unique set of diagnostic and therapeutic issues. This review attempts to provide an overview of mechanisms associated with the onset of pulmonary hypertension in COPD and IPF, touches on appropriate evaluation, and reviews the state of knowledge on treating pulmonary hypertension related to underlying lung disease.

  14. Parvovirus-associated syndrome (Aleutian disease) in two ferrets.

    Palley, L S; Corning, B F; Fox, J G; Murphy, J C; Gould, D H

    1992-07-01

    There is a paucity of information regarding natural Aleutian disease, caused by a parvovirus in ferrets. With the increasing popularity of ferrets as household pets and laboratory animals, and with the advent of a USDA-approved rabies vaccine, the occurrence and the etiopathogenesis of naturally acquired diseases in ferrets needs to be documented. We present the clinical and laboratory findings associated with Aleutian disease in 2 domestic ferrets, one with the chronic wasting form of the disease and one with the central nervous system form.

  15. Factors associated with long diagnostic delay in celiac disease.

    Fuchs, Valma; Kurppa, Kalle; Huhtala, Heini; Collin, Pekka; Mäki, Markku; Kaukinen, Katri

    2014-11-01

    Here, we investigated the factors associated with long diagnostic delay in celiac disease and the impact of the national Current Care Guidelines in reducing the delay. This population-based study involved 825 adult celiac disease patients. The diagnosis was considered delayed when the interval between first symptoms and diagnosis was >10 years. The patients were asked about the duration and type of symptoms before diagnosis, time and site (tertiary, secondary, or primary care) of the diagnosis, family history of the disease, and presence of significant comorbidities. Analysis was performed by binary logistic regression. Altogether, 261 (32%) out of 825 participants reported a diagnostic delay of >10 years. Female gender, neurological or musculoskeletal disorders and presence of diarrhea, abdominal pain, and malabsorption were associated with prolonged delay. Male gender, diagnosis after the introduction of the first Current Care Guidelines in 1997, and being detected by serological screening, and family history of celiac disease were associated with a lower risk of delayed diagnosis. Factors not associated with the delay were site of diagnosis, age, and presence of dermatitis herpetiformis, type 1 diabetes, or thyroidal disease. The number of long diagnostic delays in celiac disease has decreased over the past decades. The shift of diagnostics from secondary and tertiary care to primary care has not been detrimental. National guidelines together with increased awareness and active screening in at-risk groups of celiac disease are important in these circumstances.

  16. Association between cardiovascular disease and socioeconomic level in Portugal.

    Ribeiro, Sónia; Furtado, Cláudia; Pereira, João

    2013-11-01

    Cardiovascular disease is the leading cause of morbidity, mortality and disability in Portugal. Socioeconomic level is known to influence health status but there is scant evidence on socioeconomic inequalities in cardiovascular disease in Portugal. To analyze the distribution of cardiovascular disease in the Portuguese population according to socioeconomic status. We conducted a cross-sectional study using data from the fourth National Health Survey on a representative sample of the Portuguese population. Socioeconomic inequalities in cardiovascular disease, risk factors and number of medical visits were analyzed using odds ratios according to socioeconomic status (household equivalent income) in the adult population (35-74 years). Comparisons focused on the top and bottom 50% and 10% of household income distribution. Of the 21 807 individuals included, 53.3% were female, and mean age was 54 ± 11 years. Cardiovascular disease, stroke, ischemic heart disease, hypertension, diabetes, obesity and physical inactivity were associated with lower socioeconomic status, while smoking was associated with higher status; number of medical visits and psychological distress showed no association. When present, inequality was greater at the extremes of income distribution. The results reveal an association between morbidity, lifestyle and socioeconomic status. They also suggest that besides improved access to effective medical intervention, there is a need for a comprehensive strategy for health promotion and disease prevention that takes account of individual, cultural and socioeconomic characteristics. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  17. Association of Autism Spectrum Disorders and Inflammatory Bowel Disease

    Lee, Maunoo; Krishnamurthy, Jayasree; Susi, Apryl; Sullivan, Carolyn; Gorman, Gregory H.; Hisle-Gorman, Elizabeth; Erdie-Lalena, Christine R.; Nylund, Cade M.

    2018-01-01

    Autism spectrum disorders (ASD) and inflammatory bowel disease (IBD) both have multifactorial pathogenesis with an increasing number of studies demonstrating gut-brain associations. We aim to examine the association between ASD and IBD using strict classification criteria for IBD. We conducted a retrospective case-cohort study using records from…

  18. Association between height and coronary heart disease mortality

    Silventoinen, Karri; Zdravkovic, Slobodan; Skytthe, Axel

    2006-01-01

    An inverse association between height and risk of coronary heart disease (CHD) is well demonstrated, but it is not known whether this association is because of genetic factors, socioeconomic background, or other environmental factors. Four population-based twin cohorts with register-based follow...

  19. Cesarean section and disease associated with immune function

    Kristensen, Kim; Henriksen, Lonny

    2016-01-01

    colitis and celiac disease, whereas children delivered by elective CS had an increased risk of lower respiratory tract infection and juvenile idiopathic arthritis. The effect of elective CS was higher than the effect of acute CS on the risk of asthma. CONCLUSION: Children delivered by CS are at increased......BACKGROUND: Earlier studies have shown that delivery by cesarean section (CS) is associated with an increased risk of disease associated with immune function in the offspring, but these studies have generally not discriminated between the effect of acute and elective CS. OBJECTIVE: We sought...... to further explore these associations using discrimination between the effects of acute versus elective CS. METHODS: We performed a population- and national register-based cohort study including all children born in Denmark from January 1997 through December 2012. Hazard ratios for diseases associated...

  20. Prediction of disease and phenotype associations from genome-wide association studies.

    Stephanie N Lewis

    Full Text Available Genome wide association studies (GWAS have proven useful as a method for identifying genetic variations associated with diseases. In this study, we analyzed GWAS data for 61 diseases and phenotypes to elucidate common associations based on single nucleotide polymorphisms (SNP. The study was an expansion on a previous study on identifying disease associations via data from a single GWAS on seven diseases.Adjustments to the originally reported study included expansion of the SNP dataset using Linkage Disequilibrium (LD and refinement of the four levels of analysis to encompass SNP, SNP block, gene, and pathway level comparisons. A pair-wise comparison between diseases and phenotypes was performed at each level and the Jaccard similarity index was used to measure the degree of association between two diseases/phenotypes. Disease relatedness networks (DRNs were used to visualize our results. We saw predominant relatedness between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis for the first three levels of analysis. Expected relatedness was also seen between lipid- and blood-related traits.The predominant associations between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis can be validated by clinical studies. The diseases have been proposed to share a systemic inflammation phenotype that can result in progression of additional diseases in patients with one of these three diseases. We also noticed unexpected relationships between metabolic and neurological diseases at the pathway comparison level. The less significant relationships found between diseases require a more detailed literature review to determine validity of the predictions. The results from this study serve as a first step towards a better understanding of seemingly unrelated diseases and phenotypes with similar symptoms or modes of treatment.

  1. Association Between Thoracic Aortic Disease and Inguinal Hernia

    Olsson, Christian; Eriksson, Per; Franco?Cereceda, Anders

    2014-01-01

    Background The study hypothesis was that thoracic aortic disease (TAD) is associated with a higher?than?expected prevalence of inguinal hernia. Such an association has been reported for abdominal aortic aneurysm (AAA) and hernia. Unlike AAA, TAD is not necessarily detectable with clinical examination or ultrasound, and there are no population?based screening programs for TAD. Therefore, conditions associated with TAD, such as inguinal hernia, are of particular clinical relevance. Methods and ...

  2. Yellow fever vaccine-associated viscerotropic disease: current perspectives

    Thomas RE

    2016-10-01

    Full Text Available Roger E Thomas Department of Family Medicine, Faculty of Medicine, University of Calgary, Research Office, G012, Health Sciences Centre, Calgary, AB, Canada Purpose: To assess those published cases of yellow fever (YF vaccine-associated viscerotropic disease that meet the Brighton Collaboration criteria and to assess the safety of YF vaccine with respect to viscerotropic disease. Literature search: Ten electronic databases were searched with no restriction of date or language and reference lists of retrieved articles. Methods: All abstracts and titles were independently read by two reviewers and data independently entered by two reviewers. Results: All serious adverse events that met the Brighton Classification criteria were associated with first YF vaccinations. Sixty-two published cases (35 died met the Brighton Collaboration viscerotropic criteria, with 32 from the US, six from Brazil, five from Peru, three from Spain, two from the People’s Republic of China, one each from Argentina, Australia, Belgium, Ecuador, France, Germany, Ireland, New Zealand, Portugal, and the UK, and four with no country stated. Two cases met both the viscerotropic and YF vaccine-associated neurologic disease criteria. Seventy cases proposed by authors as viscerotropic disease did not meet any Brighton Collaboration viscerotropic level of diagnostic certainty or any YF vaccine-associated viscerotropic disease causality criteria (37 died. Conclusion: Viscerotropic disease is rare in the published literature and in pharmacovigilance databases. All published cases were from developing countries. Because the symptoms are usually very severe and life threatening, it is unlikely that cases would not come to medical attention (but might not be published. Because viscerotropic disease has a highly predictable pathologic course, it is likely that viscerotropic disease post-YF vaccine occurs in low-income countries with the same incidence as in developing countries. YF

  3. Association between Daytime Napping and Chronic Diseases in China.

    Zhou, Junmin; Kessler, Asia Sikora; Su, Dejun

    2016-03-01

    To explore the relationship between daytime napping and incidence of chronic diseases over the past 6 months among adults in China. Based on data collected from 13,469 respondents over age 40 in the Chinese Family Panel Studies in 2010, logistic regression models were estimated to examine the association between daytime napping and the incidence of any chronic diseases and 3 specific chronic diseases (hypertension, diabetes, and heart disease) after adjusting for confounders. Differences of risks by sex and age were also investigated. In the sample, 50.8% were women and 32.2% were over 60 years old. Adjusted estimates show respondents with daytime napping had elevated odds of developing any chronic diseases, hypertension, and diabetes compared to those who did not nap; having over 60 minutes of daytime napping had weaker association compared with shorter duration of daytime napping. The association between daytime napping and hypertension was found in women but not in men. Daytime napping appears to be associated with elevated risk of incidence of any chronic diseases, hypertension, and diabetes.

  4. Aging-associated renal disease in mice is fructokinase dependent.

    Roncal-Jimenez, Carlos A; Ishimoto, Takuji; Lanaspa, Miguel A; Milagres, Tamara; Hernando, Ana Andres; Jensen, Thomas; Miyazaki, Makoto; Doke, Tomohito; Hayasaki, Takahiro; Nakagawa, Takahiko; Marumaya, Shoichi; Long, David A; Garcia, Gabriela E; Kuwabara, Masanari; Sánchez-Lozada, Laura G; Kang, Duk-Hee; Johnson, Richard J

    2016-10-01

    Aging-associated kidney disease is usually considered a degenerative process associated with aging. Recently, it has been shown that animals can produce fructose endogenously, and that this can be a mechanism for causing kidney damage in diabetic nephropathy and in association with recurrent dehydration. We therefore hypothesized that low-level metabolism of endogenous fructose might play a role in aging-associated kidney disease. Wild-type and fructokinase knockout mice were fed a normal diet for 2 yr that had minimal (renal injury was amplified by provision of high-salt diet for 3 wk, as noted by the presence of glomerular hypertrophy, mesangial matrix expansion, and alpha smooth muscle actin expression, and with segmental thrombi. Fructokinase knockout mice were protected from renal injury both at baseline and after high salt intake (3 wk) compared with wild-type mice. This was associated with higher levels of active (phosphorylated serine 1177) endothelial nitric oxide synthase in their kidneys. These studies suggest that aging-associated renal disease might be due to activation of specific metabolic pathways that could theoretically be targeted therapeutically, and raise the hypothesis that aging-associated renal injury may represent a disease process as opposed to normal age-related degeneration.

  5. Associations Between Autoimmune Diseases and Attention-Deficit/Hyperactivity Disorder

    Nielsen, Philip Finn Rising; Benros, Michael Eriksen; Dalsgaard, Søren

    2017-01-01

    attention-deficit/hyperactivity disorder (ADHD). METHOD: A cohort was formed of all singletons born in Denmark from 1990 to 2007, resulting in a study population of 983,680 individuals followed from 1995 to 2012. Information on autoimmune diseases was obtained from the Danish National Hospital Register......OBJECTIVE: Recent studies have suggested that autoimmune diseases and immune activation play a part in the pathogenesis of different neurodevelopmental disorders. This study investigated the association between a personal history and a family history of autoimmune disease and the risk of developing....... Individuals with ADHD were identified through the Danish National Hospital Register and the Danish Psychiatric Central Register. RESULTS: In total, 23,645 children were diagnosed with ADHD during the study period. Autoimmune disease in the individual was associated with an increased risk of ADHD...

  6. Psoriasis-associated vascular disease: the role of HDL.

    Paiva-Lopes, Maria Joao; Delgado Alves, José

    2017-09-14

    Psoriasis is a chronic inflammatory systemic disease with a prevalence of 2-3%. Overwhelming evidence show an epidemiological association between psoriasis, cardiovascular disease and atherosclerosis. Cardiovascular disease is the most frequent cause of death in patients with severe psoriasis. Several cardiovascular disease classical risk factors are also increased in psoriasis but the psoriasis-associated risk persists after adjusting for other risk factors.Investigation has focused on finding explanations for these epidemiological data. Several studies have demonstrated significant lipid metabolism and HDL composition and function alterations in psoriatic patients. Altered HDL function is clearly one of the mechanisms involved, as these particles are of the utmost importance in atherosclerosis defense. Recent data indicate that biologic therapy can reverse both structural and functional HDL alterations in psoriasis, reinforcing their therapeutic potential.

  7. Hepatic veno-occlusive disease associated with comfrey ingestion.

    Yeong, M L; Swinburn, B; Kennedy, M; Nicholson, G

    1990-01-01

    A 23 year old man presented with hepatic veno-occlusive disease and severe portal hypertension and subsequently died from liver failure. Light microscopy and hepatic angiography showed occlusion of sublobular veins and small venous radicles of the liver, associated with widespread haemorrhagic necrosis of hepatocytes. The patient had been on a predominantly vegetarian diet and, prior to his illness, took comfrey leaves which are known to contain hepatotoxic pyrrolizidine alkaloids. Comfrey is widely used as a herbal remedy, but so far has only been implicated in two other documented cases of human hepatic veno-occlusive disease. A possible causal association of comfrey and this patient's veno-occlusive disease is suggested by the temporal relationship of the ingestion of comfrey to his presentation, the histological changes in the liver and the exclusion of other known causes of the disease.

  8. Celiac Disease and Wheat Allergy: A Growing Association?

    Micozzi, Sarah; Infante, Sonsoles; Fuentes-Aparicio, Victoria; Álvarez-Perea, Alberto; Zapatero, Lydia

    2018-05-30

    Celiac disease and wheat allergy (WA) are infrequent diseases in the general population, and a combination of the 2 is particularly rare. Celiac disease occurs in around 1% of the general population and WA in around 1% of all children. We report 2 patients with celiac disease and a gluten-free diet who developed WA consistent in anaphylaxis and an eyelid angioedema, respectively, through accidental wheat exposure. A serum study and an intestinal biopsy confirmed celiac disease. Both patients were studied with a skin prick test and serum-specific IgE, with a diagnosis of WA. In patients with celiac disease, the trace amounts of cereals present in gluten-free food could act as a sensitization factor, and probably patients with persistent symptoms (despite a gluten-free diet) are experiencing WA symptoms rather than celiac disease symptoms. The number of patients diagnosed with celiac disease has increased in the recent decades: the association between celiac disease and WA, exceedingly rare to date, could increase as well, prompting special attention to the possibility of inadvertent intake of cereals. © 2018 S. Karger AG, Basel.

  9. Yellow fever vaccine-associated viscerotropic disease: current perspectives.

    Thomas, Roger E

    2016-01-01

    To assess those published cases of yellow fever (YF) vaccine-associated viscerotropic disease that meet the Brighton Collaboration criteria and to assess the safety of YF vaccine with respect to viscerotropic disease. Ten electronic databases were searched with no restriction of date or language and reference lists of retrieved articles. All abstracts and titles were independently read by two reviewers and data independently entered by two reviewers. All serious adverse events that met the Brighton Classification criteria were associated with first YF vaccinations. Sixty-two published cases (35 died) met the Brighton Collaboration viscerotropic criteria, with 32 from the US, six from Brazil, five from Peru, three from Spain, two from the People's Republic of China, one each from Argentina, Australia, Belgium, Ecuador, France, Germany, Ireland, New Zealand, Portugal, and the UK, and four with no country stated. Two cases met both the viscerotropic and YF vaccine-associated neurologic disease criteria. Seventy cases proposed by authors as viscerotropic disease did not meet any Brighton Collaboration viscerotropic level of diagnostic certainty or any YF vaccine-associated viscerotropic disease causality criteria (37 died). Viscerotropic disease is rare in the published literature and in pharmacovigilance databases. All published cases were from developing countries. Because the symptoms are usually very severe and life threatening, it is unlikely that cases would not come to medical attention (but might not be published). Because viscerotropic disease has a highly predictable pathologic course, it is likely that viscerotropic disease post-YF vaccine occurs in low-income countries with the same incidence as in developing countries. YF vaccine is a very safe vaccine that likely confers lifelong immunity.

  10. An oral ulceration associated with Morgellons disease: a case report.

    Grosskopf, Courtney; Desai, Bhavik; Stoopler, Eric T

    2011-08-01

    Morgellons disease is a psycho-dermatologic condition in which patients report fibers or filaments "growing" out of their skin. This case report highlights an oral ulceration in a young woman associated with Morgellons disease, a condition that has not been previously described in the dental literature. An increasing number of individuals are self-reporting this condition and oral health care providers must be familiar with this disorder. Copyright © 2011 Mosby, Inc. All rights reserved.

  11. Yellow fever vaccine-associated viscerotropic disease: current perspectives

    Thomas, Roger E

    2016-01-01

    Purpose To assess those published cases of yellow fever (YF) vaccine-associated viscerotropic disease that meet the Brighton Collaboration criteria and to assess the safety of YF vaccine with respect to viscerotropic disease. Literature search Ten electronic databases were searched with no restriction of date or language and reference lists of retrieved articles. Methods All abstracts and titles were independently read by two reviewers and data independently entered by two reviewers. Results All serious adverse events that met the Brighton Classification criteria were associated with first YF vaccinations. Sixty-two published cases (35 died) met the Brighton Collaboration viscerotropic criteria, with 32 from the US, six from Brazil, five from Peru, three from Spain, two from the People’s Republic of China, one each from Argentina, Australia, Belgium, Ecuador, France, Germany, Ireland, New Zealand, Portugal, and the UK, and four with no country stated. Two cases met both the viscerotropic and YF vaccine-associated neurologic disease criteria. Seventy cases proposed by authors as viscerotropic disease did not meet any Brighton Collaboration viscerotropic level of diagnostic certainty or any YF vaccine-associated viscerotropic disease causality criteria (37 died). Conclusion Viscerotropic disease is rare in the published literature and in pharmacovigilance databases. All published cases were from developing countries. Because the symptoms are usually very severe and life threatening, it is unlikely that cases would not come to medical attention (but might not be published). Because viscerotropic disease has a highly predictable pathologic course, it is likely that viscerotropic disease post-YF vaccine occurs in low-income countries with the same incidence as in developing countries. YF vaccine is a very safe vaccine that likely confers lifelong immunity. PMID:27784992

  12. Yellow fever vaccine-associated viscerotropic disease: current perspectives

    Thomas, Roger E

    2016-01-01

    Roger E Thomas Department of Family Medicine, Faculty of Medicine, University of Calgary, Research Office, G012, Health Sciences Centre, Calgary, AB, Canada Purpose: To assess those published cases of yellow fever (YF) vaccine-associated viscerotropic disease that meet the Brighton Collaboration criteria and to assess the safety of YF vaccine with respect to viscerotropic disease. Literature search: Ten electronic databases were searched with no restriction of date or language and r...

  13. Clinical Syndromes Associated with Cardiovascular Diseases: A Review

    Xing Sheng Yang, MD, PhD, FACC, FAHA

    2017-02-01

    Full Text Available In clinical practice, a variety of syndromes are associated with cardiovascular disease and have characteristic findings. Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities, including electrocardiographic conduction defects, arrhythmias, cardiomyopathy, vascular and valvular diseases, cardiac septal defects, and pulmonary problems. There is a growing need for physicians to pay more attention to these syndromes.

  14. CARD15 in inflammatory bowel disease and Crohn's disease phenotypes : An association study and pooled analysis

    Oostenbrug, L. E.; Nolte, I. M.; Oosterom, E.; van der Steege, G.; Meerman, G. J. te; van Dullemen, H. M.; Drenth, J. P. H.; de Jong, D. J.; van der Linde, K.; Jansen, P. L. M.; Kleibeuker, J. H.

    2006-01-01

    Background. Three major polymorphisms of the Caspase-Activation Recruitment Domain containing protein 15 gene have been described to be associated with Crohn's disease. Genotype-phenotype studies reported in literature provide conflicting data on disease localisation and behaviour. We investigated

  15. Chronic unremitting headache associated with Lyme disease-like illness

    Pedro Andre Kowacs

    2013-07-01

    Full Text Available The Brazilian Lyme-disease-like illness (BLDLI or Baggio-Yoshinari syndrome is a unique zoonosis found in Brazil. It reproduces all the clinical symptoms of Lyme disease except for the high frequencies of relapse and the presence of autoimmune manifestations. Two cases of borreliosis manifesting with unremitting headache, which is a symptom associated with late-stage BLDLI, were presented. Clinical, therapeutic, and prognostic aspects of the BLDLI and its associated headaches were showed and discussed in this article. BLDLI diagnosis requires additional attention by physicians, since the disease has a tendency to progress to the late, recurrent stage or the chronic form, and the associated headache can be confused with chronic primary headache or with analgesic-overuse one. Special attention should be paid to patients with headaches who have traveled to endemic areas.

  16. Clinical association: Lyme disease and Guillain-Barre syndrome.

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. The functional importance of disease-associated mutation

    Klein Teri E

    2002-09-01

    Full Text Available Abstract Background For many years, scientists believed that point mutations in genes are the genetic switches for somatic and inherited diseases such as cystic fibrosis, phenylketonuria and cancer. Some of these mutations likely alter a protein's function in a manner that is deleterious, and they should occur in functionally important regions of the protein products of genes. Here we show that disease-associated mutations occur in regions of genes that are conserved, and can identify likely disease-causing mutations. Results To show this, we have determined conservation patterns for 6185 non-synonymous and heritable disease-associated mutations in 231 genes. We define a parameter, the conservation ratio, as the ratio of average negative entropy of analyzable positions with reported mutations to that of every analyzable position in the gene sequence. We found that 84.0% of the 231 genes have conservation ratios less than one. 139 genes had eleven or more analyzable mutations and 88.0% of those had conservation ratios less than one. Conclusions These results indicate that phylogenetic information is a powerful tool for the study of disease-associated mutations. Our alignments and analysis has been made available as part of the database at http://cancer.stanford.edu/mut-paper/. Within this dataset, each position is annotated with the analysis, so the most likely disease-causing mutations can be identified.

  18. Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease.

    Cristiana Costa Pereira

    Full Text Available Inflammation is the driving force in inflammatory bowel disease (IBD and its link to oxidative stress and carcinogenesis has long been accepted. The antioxidant system of the intestinal mucosa in IBD is compromised resulting in increased oxidative injury. This defective antioxidant system may be the result of genetic variants in antioxidant genes, which can represent susceptibility factors for IBD, namely Crohn's disease (CD and ulcerative colitis (UC. Single nucleotide polymorphisms (SNPs in the antioxidant genes SOD2 (rs4880 and GPX1 (rs1050450 were genotyped in a Portuguese population comprising 436 Crohn's disease and 367 ulcerative colitis patients, and 434 healthy controls. We found that the AA genotype in GPX1 is associated with ulcerative colitis (OR = 1.93, adjusted P-value = 0.037. Moreover, we found nominal significant associations between SOD2 and Crohn's disease susceptibility and disease subphenotypes but these did not withstand the correction for multiple testing. These findings indicate a possible link between disease phenotypes and antioxidant genes. These results suggest a potential role for antioxidant genes in IBD pathogenesis and should be considered in future association studies.

  19. Hyperparathyroidism and thyroid disease. A study of their association

    Stoffer, S.S.; Szpunar, W.E.; Block, M.

    1982-01-01

    The incidence of hyperparathyroidism was prospectively evaluated in a group of patients with thyroid disease, and the incidence of thyroid disease was retrospectively evaluated in a group of patients specifically referred for evaluation of hyperparathyroidism. Hyperparathyroidism was ten times more frequent in thyroid patients than expected in a general medical population and was especially prevalent in patients with nodular goiter. The incidence of thyroid disease in patients with hyperparathyroidism was 38.8%. Although radiation therapy was shown to be a factor in these associations, it alone could not explain the observed frequency

  20. Sarcoidosis, Celiac Disease and Deep Venous Thrombosis: a Rare Association

    Gökhan Çelik

    2011-11-01

    Full Text Available Sarcoidosis is a multisystem granulomatous disorder of unknown etiology and it may rarely be associated with a second disorder. Celiac disease is an immune-mediated enteropathy characterized with malabsorption caused by gluten intolerance, and several reports indicate an association between celiac disease and sarcoidosis. In addition, although celiac disease is associated with several extraintestinal pathologies, venous thrombosis has been rarely reported. Herein we present a rare case report of a patient with a diagnosis of sarcoidosis, celiac disease and deep venous thrombosis because of the rare association of these disorders. The patient was admitted with abdominal pain, weight loss, chronic diarrhea and a 5-day history of swelling in her right leg. A diagnosis of deep venous thrombosis was achieved by doppler ultrasonographic examination. The diagnosis of celiac disease was made by biopsy of duodenal mucosa and supported with elevated serum level of anti-gliadin IgA and IgG, and a diagnosis of sarcoidosis was achieved by transbronchial needle aspiration from the subcarinal lymph node during flexible bronchoscopy.

  1. Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.

    Khong, Jwu Jin; Burdon, Kathryn P; Lu, Yi; Laurie, Kate; Leonardos, Lefta; Baird, Paul N; Sahebjada, Srujana; Walsh, John P; Gajdatsy, Adam; Ebeling, Peter R; Hamblin, Peter Shane; Wong, Rosemary; Forehan, Simon P; Fourlanos, Spiros; Roberts, Anthony P; Doogue, Matthew; Selva, Dinesh; Montgomery, Grant W; Macgregor, Stuart; Craig, Jamie E

    2016-11-18

    Graves' disease is an autoimmune thyroid disease of complex inheritance. Multiple genetic susceptibility loci are thought to be involved in Graves' disease and it is therefore likely that these can be identified by genome wide association studies. This study aimed to determine if a genome wide association study, using a pooling methodology, could detect genomic loci associated with Graves' disease. Nineteen of the top ranking single nucleotide polymorphisms including HLA-DQA1 and C6orf10, were clustered within the Major Histo-compatibility Complex region on chromosome 6p21, with rs1613056 reaching genome wide significance (p = 5 × 10 -8 ). Technical validation of top ranking non-Major Histo-compatablity complex single nucleotide polymorphisms with individual genotyping in the discovery cohort revealed four single nucleotide polymorphisms with p ≤ 10 -4 . Rs17676303 on chromosome 1q23.1, located upstream of FCRL3, showed evidence of association with Graves' disease across the discovery, replication and combined cohorts. A second single nucleotide polymorphism rs9644119 downstream of DPYSL2 showed some evidence of association supported by finding in the replication cohort that warrants further study. Pooled genome wide association study identified a genetic variant upstream of FCRL3 as a susceptibility locus for Graves' disease in addition to those identified in the Major Histo-compatibility Complex. A second locus downstream of DPYSL2 is potentially a novel genetic variant in Graves' disease that requires further confirmation.

  2. Association between polychlorinated biphenyls and Parkinson's disease neuropathology.

    Hatcher-Martin, Jaime M; Gearing, Marla; Steenland, Kyle; Levey, Allan I; Miller, Gary W; Pennell, Kurt D

    2012-10-01

    Polychlorinated biphenyls (PCBs) are synthetic chemicals primarily used as coolants and insulators in electrical equipment. Although banned for several decades, PCBs continue to exist in the environment because of their long half-life, continued presence in items produced before the ban, and poor disposal practices. Epidemiological and experimental studies have identified exposure to PCBs as a potential risk factor for Parkinson's disease, perhaps more so in females. The objective of this work was to examine the association between PCB levels in post-mortem human brain tissue and the diagnosis of Parkinson's disease, as well as the degree of nigral depigmentation. We also sought to determine if this association was more significant when patients were stratified by sex. Post-mortem brain samples from control patients and those diagnosed with Parkinson's disease were obtained from the Emory University Brain Bank and from the Nun Study. Concentrations of eight prevalent PCB congeners were extracted from post-mortem brain tissue and analyzed using gas chromatography-mass spectrometry. PCB congeners 153 and 180 were significantly elevated in the brains of Parkinson's disease patients. When stratified by sex, the female Parkinson's disease group demonstrated significantly elevated concentrations of total PCBs and specifically congeners 138, 153, and 180 compared to controls, whereas PCB concentrations in males were not significantly different between control and Parkinson's disease groups. In a separate population of women (Nun Study) who had no clinical signs or symptoms of PD, elevated concentrations total PCB and congeners 138, 153 and 180 were also observed in post-mortem brain tissue exhibiting moderate nigral depigmentation compared to subjects with mild or no depigmentation. These quantitative data demonstrate an association between brain PCB levels and Parkinson's disease-related pathology. Furthermore, these data support epidemiological and laboratory studies

  3. Association between polychlorinated biphenyls and Parkinson’s disease neuropathology

    Hatcher-Martin, Jaime M.; Gearing, Marla; Steenland, Kyle; Levey, Allan I.; Miller, Gary W.; Pennell, Kurt D.

    2012-01-01

    Polychlorinated biphenyls (PCBs) are synthetic chemicals primarily used as coolants and insulators in electrical equipment. Although banned for several decades, PCBs continue to exist in the environment because of their long half-life, continued presence in items produced before the ban, and poor disposal practices. Epidemiological and experimental studies have identified exposure to PCBs as a potential risk factor for Parkinson’s disease, perhaps more so in females. The objective of this work was to examine the association between PCB levels in post-mortem human brain tissue and the diagnosis of Parkinson’s disease, as well as the degree of nigral depigmentation. We also sought to determine if this association was more significant when patients were stratified by sex. Post-mortem brain samples from control patients and those diagnosed with Parkinson’s disease were obtained from the Emory University Brain Bank and from the Nun Study. Concentrations of eight prevalent PCB congeners were extracted from post-mortem brain tissue and analyzed using gas chromatography-mass spectrometry. PCB congeners 153 and 180 were significantly elevated in the brains of Parkinson’s disease patients. When stratified by sex, the female Parkinson’s disease group demonstrated significantly elevated concentrations of total PCBs and specifically congeners 138, 153, and 180 compared to controls, whereas PCB concentrations in males were not significantly different between control and Parkinson’s disease groups. In a separate population of women (Nun Study) who had no clinical signs or symptoms of PD, elevated concentrations total PCB and congeners 138, 153 and 180 were also observed in post-mortem brain tissue exhibiting moderate nigral depigmentation compared to subjects with mild or no depigmentation. These quantitative data demonstrate an association between brain PCB levels and Parkinson’s disease-related pathology. Furthermore, these data support epidemiological and

  4. Mode of delivery is not associated with celiac disease.

    Dydensborg Sander, Stine; Hansen, Anne Vinkel; Størdal, Ketil; Andersen, Anne-Marie Nybo; Murray, Joseph A; Husby, Steffen

    2018-01-01

    The purpose of this study was to investigate the association between mode of delivery and the risk of celiac disease in two large population-based birth cohorts with different prevalence of diagnosed celiac disease. This is an observational register-based cohort study using two independent population cohorts. We used data from administrative registers and health administrative registers from Denmark and Norway and linked the data at the individual level. We included all children who were born in Denmark from January 1, 1995 to December 31, 2010 and all children who were born in Norway from January 1, 2004 to December 31, 2012. We included 1,051,028 children from Denmark. Cesarean sections were registered for 196,512 children (18.9%). Diagnosed celiac disease was registered for 1,395 children (0.13%). We included 537,457 children from Norway. Cesarean sections were registered for 90,128 children (16.8%). Diagnosed celiac disease was registered for 1,919 children (0.35%). We found no association between the mode of delivery and the risk of diagnosed celiac disease. The adjusted odds ratio for celiac disease for children delivered by any type of cesarean section compared to vaginal delivery was 1.11 (95% CI: 0.96-1.29) in the Danish cohort and 0.96 (95% CI: 0.84-1.09) in the Norwegian cohort. The adjusted odds ratio for celiac disease for children delivered by elective cesarean section compared to vaginal delivery was 1.20 (95% CI: 1.00-1.43) in the Danish cohort and 0.96 (95% CI: 0.79-1.17) in the Norwegian cohort. In this large registry-based study, mode of delivery was not associated with an increased risk of diagnosed celiac disease.

  5. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    Hensman Moss, Davina J; Pardinas, Antonio; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A

    2017-01-01

    Background\\ud \\ud Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.\\ud \\ud Methods\\ud \\ud We generated a progression score on the basis of principal ...

  6. Association of Crohn’s Disease and Celiac Disease: Causal link or only coincidence?

    Tolga Duzenli

    2016-12-01

    Full Text Available Crohn’s disease (CD is a chronic inflammatory bowel disease that affects any part of the gastrointestinal tract, most commonly terminal ileum and proximal colon; and Celiac Disease (CeD is immuno-mediated systemic disease caused by gluten and similar prolamins in genetically susceptible individuals. Concomitant occurrence of CD and CeD is rare and there are limited literature data regarding the association of CeD to CD. Although, recent findings propose shared mechanisms, genetics and functional pathways. Herein, we report a case that has co-occurrence of CD and CeD and rewiew the literature of the association between these two diseases. [Dis Mol Med 2016; 4(4.000: 77-80

  7. DISEASES: text mining and data integration of disease-gene associations.

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi; Binder, Janos X; Jensen, Lars Juhl

    2015-03-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases. The DISEASES resource is accessible through a web interface at http://diseases.jensenlab.org/, where the text-mining software and all associations are also freely available for download. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  8. Gene therapy for Stargardt disease associated with ABCA4 gene.

    Han, Zongchao; Conley, Shannon M; Naash, Muna I

    2014-01-01

    Mutations in the photoreceptor-specific flippase ABCA4 lead to accumulation of the toxic bisretinoid A2E, resulting in atrophy of the retinal pigment epithelium (RPE) and death of the photoreceptor cells. Many blinding diseases are associated with these mutations including Stargardt's disease (STGD1), cone-rod dystrophy, retinitis pigmentosa (RP), and increased susceptibility to age-related macular degeneration. There are no curative treatments for any of these dsystrophies. While the monogenic nature of many of these conditions makes them amenable to treatment with gene therapy, the ABCA4 cDNA is 6.8 kb and is thus too large for the AAV vectors which have been most successful for other ocular genes. Here we review approaches to ABCA4 gene therapy including treatment with novel AAV vectors, lentiviral vectors, and non-viral compacted DNA nanoparticles. Lentiviral and compacted DNA nanoparticles in particular have a large capacity and have been successful in improving disease phenotypes in the Abca4 (-/-) murine model. Excitingly, two Phase I/IIa clinical trials are underway to treat patients with ABCA4-associated Startgardt's disease (STGD1). As a result of the development of these novel technologies, effective therapies for ABCA4-associated diseases may finally be within reach.

  9. Periodontal disease associated with red complex bacteria in dogs.

    Di Bello, A; Buonavoglia, A; Franchini, D; Valastro, C; Ventrella, G; Greco, M F; Corrente, M

    2014-03-01

    Red complex bacteria (Treponema denticola, Tannerella forsythia and Porphyromonas gingivalis) play a major role in the aetiology of periodontal disease in humans. This study was designed to evaluate the association of such bacteria with periodontal disease in dogs. Seventy-three subgingival samples taken from dogs ranging from 2 months to 12 years (median age 4 years) were tested for red complex bacteria using a polymerase chain reaction assay. Thirty-six of 73 (49 · 3%) dogs were found to be positive for T. forsythia and P. gingivalis. Dogs with gingivitis or periodontitis were more likely to be infected with T. forsythia and P. gingivalis [odds ratio (OR) 5 · 4 (confidence interval (CI) 1 · 9-15 · 6), P = 0 · 002] than healthy animals. Only 3 (4 · 1%) of 73 samples were positive for red complex bacteria, but the association with periodontal disease was not significant. The results indicate that involvement of red complex bacteria in periodontal disease in dogs is similar to that observed in humans. Only the concurrent presence of T. forsythia and P. gingivalis were correlated to periodontal disease in dogs in this study. © 2014 British Small Animal Veterinary Association.

  10. Rheumatoid Arthritis (RA) associated interstitial lung disease (ILD).

    O'Dwyer, David N

    2013-10-01

    Rheumatoid Arthritis (RA) is the most common Connective Tissue Disease (CTD) and represents an increasing burden on global health resources. Interstitial lung disease (ILD) has been recognised as a complication of RA but its potential for mortality and morbidity has arguably been under appreciated for decades. New studies have underscored a significant lifetime risk of ILD development in RA. Contemporary work has identified an increased risk of mortality associated with the Usual Interstitial Pneumonia (UIP) pattern which shares similarity with the most devastating of the interstitial pulmonary diseases, namely Idiopathic Pulmonary Fibrosis (IPF). In this paper, we discuss recent studies highlighting the associated increase in mortality in RA-UIP. We explore associations between radiological and histopathological features of RA-ILD and the prognostic implications of same. We emphasise the need for translational research in this area given the growing burden of RA-ILD. We highlight the importance of the respiratory physician as a key stakeholder in the multidisciplinary management of this disorder. RA-ILD focused research offers the opportunity to identify early asymptomatic disease and define the natural history of this extra articular manifestation. This may provide a unique opportunity to define key regulatory fibrotic events driving progressive disease. We also discuss some of the more challenging and novel aspects of therapy for RA-ILD.

  11. Association between chronic azotemic kidney disease and the severity of periodontal disease in dogs.

    Glickman, Lawrence T; Glickman, Nita W; Moore, George E; Lund, Elizabeth M; Lantz, Gary C; Pressler, Barrak M

    2011-05-01

    Naturally occurring periodontal disease affects >75% of dogs and has been associated with cardiac lesions and presumptive endocarditis. However, the relationships between periodontal disease and chronic kidney disease (CKD) in dogs have not been studied. In a retrospective longitudinal study the incidence of azotemic CKD was compared between a cohort of 164,706 dogs with periodontal disease and a cohort of age-matched dogs with no periodontal disease from a national primary care practice. These dogs contributed 415,971 dog-years of follow-up from 2002 to 2008. Hazard ratios and 95% confidence intervals from Cox regression were used to compare the incidence of azotemic CKD in dogs with stage 1, 2, or 3/4 periodontal disease to dogs with no periodontal disease. The hazard ratio for azotemic CKD increased with increasing severity of periodontal disease (stage 1 hazard ratio=1.8, 95% confidence interval: 1.6, 2.1; stage 2 hazard ratio=2.0, 95% confidence interval: 1.7, 2.3; stage 3/4 hazard ratio=2.7, 95% confidence interval: 2.3, 3.0; P(trend)=periodontal disease was also associated with serum creatinine >1.4 mg/dl and blood urea nitrogen >36 mg/dl, independent of a veterinarian's clinical diagnosis of CKD. Copyright © 2011 Elsevier B.V. All rights reserved.

  12. Travel and migration associated infectious diseases morbidity in Europe, 2008

    Lopez-Velez Rogelio

    2010-11-01

    Full Text Available Abstract Background Europeans represent the majority of international travellers and clinicians encountering returned patients have an essential role in recognizing, and communicating travel-associated public health risks. Methods To investigate the morbidity of travel associated infectious diseases in European travellers, we analysed diagnoses with demographic, clinical and travel-related predictors of disease, in 6957 ill returned travellers who presented in 2008 to EuroTravNet centres with a presumed travel associated condition. Results Gastro-intestinal (GI diseases accounted for 33% of illnesses, followed by febrile systemic illnesses (20%, dermatological conditions (12% and respiratory illnesses (8%. There were 3 deaths recorded; a sepsis caused by Escherichia coli pyelonephritis, a dengue shock syndrome and a Plasmodium falciparum malaria. GI conditions included bacterial acute diarrhea (6.9%, as well as giardiasis and amebasis (2.3%. Among febrile systemic illnesses with identified pathogens, malaria (5.4% accounted for most cases followed by dengue (1.9% and others including chikungunya, rickettsial diseases, leptospirosis, brucellosis, Epstein Barr virus infections, tick-borne encephalitis (TBE and viral hepatitis. Dermatological conditions were dominated by bacterial infections, arthropod bites, cutaneous larva migrans and animal bites requiring rabies post-exposure prophylaxis and also leishmaniasis, myasis, tungiasis and one case of leprosy. Respiratory illness included 112 cases of tuberculosis including cases of multi-drug resistant or extensively drug resistant tuberculosis, 104 cases of influenza like illness, and 5 cases of Legionnaires disease. Sexually transmitted infections (STI accounted for 0.6% of total diagnoses and included HIV infection and syphilis. A total of 165 cases of potentially vaccine preventable diseases were reported. Purpose of travel and destination specific risk factors was identified for several

  13. Small bowel angiodysplasia and novel disease associations: a cohort study.

    Holleran, Grainne

    2013-04-01

    Gastrointestinal angiodysplasias recurrently bleed, accounting for 3-5% of obscure gastrointestinal bleeding. The advent of small bowel capsule endoscopy (SBCE) has led to an increased recognition of small bowel angiodysplasias (SBAs) but little is known about their etiology. Previous small cohorts and case reports suggest an equal gender incidence and associations with cardiovascular disease, renal impairment, and coagulopathies.

  14. Vibrio damsela associated with diseased fish in Denmark

    Pedersen, Karl; Dalsgaard, Inger; Larsen, J.L.

    1997-01-01

    of a nurse shark (Orectolobus ornatus) held in captivity, and one was from the water in the aquarium where the rags and shark were kept. This is the first report on the isolation of V. damsela in Denmark and the first report on this organism associated with diseased farmed rainbow trout. Ecological...

  15. Skin autofluorescence associates with vascular calcification in chronic kidney disease.

    Wang, Angela Yee-Moon; Wong, Chun-Kwok; Yau, Yat-Yin; Wong, Sharon; Chan, Iris Hiu-Shuen; Lam, Christopher Wai-Kei

    2014-08-01

    This study aims to evaluate the relationship between tissue advanced glycation end products, as reflected by skin autofluorescence, and vascular calcification in chronic kidney disease. Three hundred patients with stage 3 to 5 chronic kidney disease underwent multislice computed tomography to estimate total coronary artery calcium score (CACS) and had tissue advanced glycation end product assessed using a skin autofluorescence reader. Intact parathyroid hormone (Pskin autofluorescence after age (Pskin autofluorescence was associated with a 7.43-fold (95% confidence intervals, 3.59-15.37; PSkin autofluorescence retained significance in predicting CACS ≥400 (odds ratio, 3.63; 95% confidence intervals, 1.44-9.18; P=0.006) when adjusting for age, sex, serum calcium, phosphate, albumin, C-reactive protein, lipids, blood pressure, estimated glomerular filtration rate, and intact parathyroid hormone but marginally lost significance when additionally adjusting for diabetes mellitus (odds ratio, 2.23; 95% confidence intervals, 0.81-6.14; P=0.1). Combination of diabetes mellitus and higher intact parathyroid hormone was associated with greater skin autofluorescence and CACS versus those without diabetes mellitus and having lower intact parathyroid hormone. Tissue advanced glycation end product, as reflected by skin autofluorescence, showed a significant novel association with vascular calcification in chronic kidney disease. These data suggest that increased tissue advanced glycation end product may contribute to vascular calcification in chronic kidney disease and diabetes mellitus and warrant further experimental investigation. © 2014 American Heart Association, Inc.

  16. association between finger clubbing and chronic lung disease in hiv

    2013-11-11

    Nov 11, 2013 ... Background: Finger clubbing in HIV infected children is associated with pulmonary diseases. ... is easy and quick to detect without sophisticated equipment and very ... interstitial pneumonia, bronchiectasis, interstitial pneumonitis and .... P value. Chest x-ray report. Abnormal. 90 (75.0). 54 (90.0). 36 (60.0).

  17. Association between Systemic Diseases and Endodontic Outcome: A Systematic Review.

    Aminoshariae, Anita; Kulild, James C; Mickel, Andre; Fouad, Ashraf F

    2017-04-01

    To date, the relationships between systemic diseases and endodontic treatment outcomes remain poorly studied. Thus, the purpose of this systematic review was to evaluate the relationship between host-modifying factors and their association with endodontic outcomes. Two reviewers independently conducted a comprehensive literature search. The MEDLINE, Embase, Cochrane, and PubMed databases were searched. In addition, the bibliographies and gray literature of all relevant articles and textbooks were manually searched. There was no disagreement between the 2 reviewers. Sixteen articles met the inclusion criteria with moderate to high risk of bias. There was no article with low risk of bias. Available scientific evidence remains inconclusive as to whether diabetes and/or cardiovascular disease(s) may be associated with endodontic outcomes. Human immunodeficiency virus and oral bisphosphonate did not appear to be associated with endodontic outcomes. Although additional well-designed longitudinal clinical studies are needed, the results of this systematic review suggest that some systemic diseases may be correlated with endodontic outcomes. Copyright © 2016 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  18. The National Tay Sachs and Allied Diseases Association.

    Zeitlin, Paula

    1986-01-01

    The National Tay-Sachs and Allied Diseases Association is involved in education, research, and prevention of Tay-Sachs, an inherited metabolic disorder which destroys the central nervous system, and over 30 related disorders. The group features a parent peer group network and a support group for carrier couples. (CL)

  19. Antithrombotic therapy in atrial fibrillation associated with valvular heart disease

    Lip, Gregory Y H; Collet, Jean Philippe; Caterina, Raffaele de

    2017-01-01

    Atrial fibrillation (AF) is a major worldwide public health problem, and AF in association with valvular heart disease (VHD) is also common. However, management strategies for this group of patients have been less informed by randomized trials, which have largely focused on 'non-valvular AF' pati...

  20. Fungi associated with base rot disease of aloe vera ( Aloe ...

    Fungi associated with base rot disease of Aloe vera (syn. Aloe barbadensis) were investigated in Niger Delta Area of Nigeria. Fungi and their percentage frequency were Aspergillus verocosa 28.03%, Fusarium oxysporium 24.24%, Plectosphaerella cucumerina 16.67%, Mammeria ehinobotryoides 15.91% and Torula ...

  1. Mandibulectomy for treatment of fractures associated with severe periodontal disease.

    Carvalho, Carina Marchiori; Rahal, Sheila Canevese; Dos Reis Mesquita, Luciane; Castilho, Maíra Sales; Kano, Washington Takashi; Mamprim, Maria Jaqueline

    2015-03-01

    Six cases of mandibular fractures associated with severe periodontal disease that had been treated by mandibulectomy, due to intense bone loss, were evaluated retrospectively. The dogs were mainly older, small breed dogs that had suffered a traumatic event. Four dogs had a bilateral mandibulectomy and 2 a unilateral mandibulectomy.

  2. Mandibulectomy for treatment of fractures associated with severe periodontal disease

    Carvalho, Carina Marchiori; Rahal, Sheila Canevese; dos Reis Mesquita, Luciane; Castilho, Maíra Sales; Kano, Washington Takashi; Mamprim, Maria Jaqueline

    2015-01-01

    Six cases of mandibular fractures associated with severe periodontal disease that had been treated by mandibulectomy, due to intense bone loss, were evaluated retrospectively. The dogs were mainly older, small breed dogs that had suffered a traumatic event. Four dogs had a bilateral mandibulectomy and 2 a unilateral mandibulectomy.

  3. Botryosphaeriaceae associated with diseases of mango (Mangifera indica)

    Trakunyingcharoen, T.; Cheewangkoon, R.; To-anun, C.; Crous, P.W.; Niekerk, van J.M.; Lombard, L.

    2014-01-01

    Fungal species of Botryosphaeriaceae have a cosmopolitan distribution and are important pathogens of a wide range of plant hosts. This study aims to use phylogenetic inference to review the geographical distribution of botryosphaeriacous species that have been associated with diseases of mango

  4. Hypothetical views on some unusual disease associations with ...

    Sickle cell anemia (SCA) is a disease accompanied with several complications arising mainly from vasoocclusion and haemolysis. There are also complications of infections which may occur due to defective cell mediated and humoral immunity. However, there are associations that have been observed to be unusual in ...

  5. Disease-Concordant Twins Empower Genetic Association Studies

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size...

  6. Erythema induratum of Bazin associated with Addison's disease: first description

    Rodrigo Antonio Brandão Neto

    Full Text Available CONTEXT: Erythema induratum of Bazin (EIB is considered to be a tuberculid reaction and consists of recurrent painful nodules. The differential diagnosis includes diseases like nodular vasculitis, perniosis, polyarteritis nodosa and erythema nodosum. CASE REPORT: We report the case of a woman with EIB who developed Addison's disease during treatment with anti-tuberculosis drugs with good response to glucocorticoid replacement. The diagnosis was obtained through the clinical picture, positive tuberculin test and positive BCG (bacillus Calmette-Guérin test on the histological sample. Anti-tuberculosis drugs and glucocorticoid replacement led to disappearance of the signs and symptoms. CONCLUSIONS: This is the first description of an association between EIB and Addison's disease. It should be borne in mind that tuberculosis is an important etiological factor for Addison's disease.

  7. HAMDA: Hybrid Approach for MiRNA-Disease Association prediction.

    Chen, Xing; Niu, Ya-Wei; Wang, Guang-Hui; Yan, Gui-Ying

    2017-12-01

    For decades, enormous experimental researches have collectively indicated that microRNA (miRNA) could play indispensable roles in many critical biological processes and thus also the pathogenesis of human complex diseases. Whereas the resource and time cost required in traditional biology experiments are expensive, more and more attentions have been paid to the development of effective and feasible computational methods for predicting potential associations between disease and miRNA. In this study, we developed a computational model of Hybrid Approach for MiRNA-Disease Association prediction (HAMDA), which involved the hybrid graph-based recommendation algorithm, to reveal novel miRNA-disease associations by integrating experimentally verified miRNA-disease associations, disease semantic similarity, miRNA functional similarity, and Gaussian interaction profile kernel similarity into a recommendation algorithm. HAMDA took not only network structure and information propagation but also node attribution into consideration, resulting in a satisfactory prediction performance. Specifically, HAMDA obtained AUCs of 0.9035 and 0.8395 in the frameworks of global and local leave-one-out cross validation, respectively. Meanwhile, HAMDA also achieved good performance with AUC of 0.8965 ± 0.0012 in 5-fold cross validation. Additionally, we conducted case studies about three important human cancers for performance evaluation of HAMDA. As a result, 90% (Lymphoma), 86% (Prostate Cancer) and 92% (Kidney Cancer) of top 50 predicted miRNAs were confirmed by recent experiment literature, which showed the reliable prediction ability of HAMDA. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.

    Jeong, Anna; Wong, Michael

    2016-09-01

    Epilepsy is one of the most disabling symptoms of tuberous sclerosis complex (TSC) and is a leading cause of morbidity and mortality in affected individuals. The relationship between systemic disease manifestations and the presence of epilepsy has not been thoroughly investigated. This study utilizes a multicenter TSC Natural History Database including 1,816 individuals to test the hypothesis that systemic disease manifestations of TSC are associated with epilepsy. Univariate analysis was used to identify patient characteristics (e.g., age, gender, race, and TSC mutation status) associated with the presence of epilepsy. Individual logistic regression models were built to examine the association between epilepsy and each candidate systemic or neurologic disease variable, controlling for the patient characteristics found to be significant on univariate analysis. Finally, a multivariable logistic regression model was constructed, using the variables found to be significant on the individual analyses as well as the patient characteristics that were significant on univariate analysis. Nearly 88% of our cohort had a history of epilepsy. After adjusting for age, gender, and TSC mutation status, multiple systemic disease manifestations including cardiac rhabdomyomas (odds ratio [OR] 2.3, 95% confidence interval [CI] 1.3-3.9, p = 0.002), retinal hamartomas (OR 2.1, CI 1.0-4.3, p = 0.04), renal cysts (OR 2.1, CI 1.3-3.4, p = 0.002), renal angiomyolipomas (OR 3.0, CI 1.8-5.1, p epilepsy. In the multivariable logistic regression model, cardiac rhabdomyomas (OR 1.9, CI 1.0-3.5, p = 0.04) remained significantly associated with the presence of epilepsy. The identification of systemic disease manifestations such as cardiac rhabdomyomas that confer a higher risk of epilepsy development in TSC could contribute to disease prognostication and assist in the identification of individuals who may receive maximal benefit from potentially novel, targeted, preventative therapies. Wiley

  9. Intergenerational associations of chronic disease and polycystic ovary syndrome.

    Michael J Davies

    Full Text Available BACKGROUND: Polycystic ovary syndrome (PCOS is a common female endocrine disorder of heterogeneous clinical presentation, high disease burden, and unknown aetiology. The disease and associated conditions cluster in families, suggesting that PCOS may be the reproductive consequence of underlying chronic disease susceptibility. OBJECTIVE: To determine whether parents of young women with PCOS were more likely to have a history of diabetes or cardiovascular disease in later adult life. DESIGN, SETTING AND PARTICIPANTS: Structured interviews with 715 members of a cohort constructed by tracing female infants born at a single general hospital in Adelaide between 1973 and 1975. Participants were asked whether they had a pre-existing medical diagnosis of PCOS, and whether each parent had ever had high blood pressure, high cholesterol, diabetes, stroke, or heart disease. Maternal high blood pressure during pregnancy was taken from the medical record of the pregnancy with the study participant. RESULTS AND CONCLUSIONS: Mothers of women with PCOS were more likely than mothers of other women to have any cardiovascular disease (RR 1.78, 95% CI 1.29, 2.47, and nearly twice as likely to have high blood pressure (RR 1.95, 95% CI 1.38, 2.76. Fathers of women with PCOS were more than twice as likely to have heart disease (RR 2.36, 95% CI 1.44, 3.88 and over four times as likely to have had a stroke (RR 4.37, 95% CI 1.97, 9.70. Occurrence of cardiovascular disease in both mother and father are associated with the risk of PCOS in daughters. Further detailed study is required to elucidate the precise pathways that may be causally related to the observations.

  10. Intergenerational associations of chronic disease and polycystic ovary syndrome.

    Davies, Michael J; Marino, Jennifer L; Willson, Kristyn J; March, Wendy A; Moore, Vivienne M

    2011-01-01

    Polycystic ovary syndrome (PCOS) is a common female endocrine disorder of heterogeneous clinical presentation, high disease burden, and unknown aetiology. The disease and associated conditions cluster in families, suggesting that PCOS may be the reproductive consequence of underlying chronic disease susceptibility. To determine whether parents of young women with PCOS were more likely to have a history of diabetes or cardiovascular disease in later adult life. Structured interviews with 715 members of a cohort constructed by tracing female infants born at a single general hospital in Adelaide between 1973 and 1975. Participants were asked whether they had a pre-existing medical diagnosis of PCOS, and whether each parent had ever had high blood pressure, high cholesterol, diabetes, stroke, or heart disease. Maternal high blood pressure during pregnancy was taken from the medical record of the pregnancy with the study participant. Mothers of women with PCOS were more likely than mothers of other women to have any cardiovascular disease (RR 1.78, 95% CI 1.29, 2.47), and nearly twice as likely to have high blood pressure (RR 1.95, 95% CI 1.38, 2.76). Fathers of women with PCOS were more than twice as likely to have heart disease (RR 2.36, 95% CI 1.44, 3.88) and over four times as likely to have had a stroke (RR 4.37, 95% CI 1.97, 9.70). Occurrence of cardiovascular disease in both mother and father are associated with the risk of PCOS in daughters. Further detailed study is required to elucidate the precise pathways that may be causally related to the observations.

  11. Investigation of Genetic Variants Associated with Alzheimer Disease in Parkinson Disease Cognition.

    Barrett, Matthew J; Koeppel, Alexander F; Flanigan, Joseph L; Turner, Stephen D; Worrall, Bradford B

    2016-01-01

    Meta-analysis of genome-wide association studies have implicated multiple single nucleotide polymorphisms (SNPs) and associated genes with Alzheimer disease. The role of these SNPs in cognitive impairment in Parkinson disease (PD) remains incompletely evaluated. The objective of this study was to test alleles associated with risk of Alzheimer disease for association with cognitive impairment in Parkinson disease (PD). Two datasets with PD subjects accessed through the NIH database of Genotypes and Phenotypes contained both single nucleotide polymorphism (SNP) arrays and mini-mental state exam (MMSE) scores. Genetic data underwent rigorous quality control and we selected SNPs for genes associated with AD other than APOE. We constructed logistic regression and ordinal regression models, adjusted for sex, age at MMSE, and duration of PD, to assess the association between selected SNPs and MMSE score. In one dataset, PICALM rs3851179 was associated with cognitive impairment (MMSE  70 years old (OR = 2.3; adjusted p-value = 0.017; n = 250) but not in PD subjects ≤ 70 years old. Our finding suggests that PICALM rs3851179 could contribute to cognitive impairment in older patients with PD. It is important that future studies consider the interaction of age and genetic risk factors in the development of cognitive impairment in PD.

  12. Association of age-related macular degeneration and reticular macular disease with cardiovascular disease.

    Rastogi, Neelesh; Smith, R Theodore

    2016-01-01

    Age-related macular degeneration is the leading cause of adult blindness in the developed world. Thus, major endeavors to understand the risk factors and pathogenesis of this disease have been undertaken. Reticular macular disease is a proposed subtype of age-related macular degeneration correlating histologically with subretinal drusenoid deposits located between the retinal pigment epithelium and the inner segment ellipsoid zone. Reticular lesions are more prevalent in females and in older age groups and are associated with a higher mortality rate. Risk factors for developing age-related macular degeneration include hypertension, smoking, and angina. Several genes related to increased risk for age-related macular degeneration and reticular macular disease are also associated with cardiovascular disease. Better understanding of the clinical and genetic risk factors for age-related macular degeneration and reticular macular disease has led to the hypothesis that these eye diseases are systemic. A systemic origin may help to explain why reticular disease is diagnosed more frequently in females as males suffer cardiovascular mortality at an earlier age, before the age of diagnosis of reticular macular disease and age-related macular degeneration. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association.

    Feingold, Brian; Mahle, William T; Auerbach, Scott; Clemens, Paula; Domenighetti, Andrea A; Jefferies, John L; Judge, Daniel P; Lal, Ashwin K; Markham, Larry W; Parks, W James; Tsuda, Takeshi; Wang, Paul J; Yoo, Shi-Joon

    2017-09-26

    For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. © 2017 American Heart Association, Inc.

  14. Cardiovascular Risks Associated with Incident and Prevalent Periodontal Disease

    Yu, Yau-Hua; Chasman, Daniel I; Buring, Julie E; Rose, Lynda; Ridker, Paul M

    2014-01-01

    Aim While prevalent periodontal disease associates with cardiovascular risk, little is known about how incident periodontal disease influences future vascular risk. We compared effects of incident versus prevalent periodontal disease in developing major cardiovascular diseases (CVD), myocardial infarction (MI), ischemic stroke and total CVD. Material and Methods In a prospective cohort of 39863 predominantly white women, age ≥ 45 years and free of cardiovascular disease at baseline were followed for an average of 15.7 years. Cox proportional hazard models with time-varying periodontal status (prevalent [18%], incident [7.3%] vs. never [74.7%]) were used to assess future cardiovascular risks. Results Incidence rates of all CVD outcomes were higher in women with prevalent or incident periodontal disease. For women with incident periodontal disease, risk factor adjusted hazard ratios (HRs) were 1.42 (95% CI, 1.14–1.77) for major CVD, 1.72 (1.25–2.38) for MI, 1.41(1.02–1.95) for ischemic stroke, and 1.27(1.06–1.52) for total CVD. For women with prevalent periodontal disease, adjusted HRs were 1.14 (1.00–1.31) for major CVD, 1.27 (1.04–1.56) for MI, 1.12(0.91–1.37) for ischemic stroke, and 1.15(1.03–1.28) for total CVD. Conclusion New cases of periodontal disease, not just those that are pre-existing, place women at significantly elevated risks for future cardiovascular events. PMID:25385537

  15. Belching during gastroscopy and its association with gastroesophageal reflux disease.

    Lee, B S; Lee, S H; Jang, D K; Chung, K H; Hwang, J H; Jang, S E; Cha, B H; Ryu, J K; Kim, Y-T

    2016-05-01

    Belching may result from transient lower esophageal sphincter relaxation; therefore, it has been proposed that belching may be a manifestation of gastroesophageal reflux disease (GERD). This study was conducted to investigate the frequency of belching during esophagogastroduodenoscopy (EGD) and its association with GERD. A retrospective review was performed on prospectively collected clinical and endoscopic data from 404 subjects who underwent EGD without sedation from December 2012 to May 2013 in a training hospital in Korea. All detectable belching events during endoscopy were counted. Frequency and severity of belching events were compared between the group with and without GERD using an ordinal logistic regression model. There were 145 GERD patients (26 erosive reflux disease and 119 nonerosive reflux disease [NERD]). In the multivariable analysis, GERD was significantly associated with a higher frequency of belching events (odds ratio = 6.59, P reflux disease (n = 378) and NERD (n = 293). NERD was also a predictive factor for frequent belching during EGD (odds ratio = 6.61, P Diseases of the Esophagus.

  16. Noncoding RNA Profiles in Tobacco- and Alcohol-Associated Diseases

    Nayra Soares do Amaral

    2016-12-01

    Full Text Available Tobacco and alcohol are the leading environmental risk factors in the development of human diseases, such as cancer, cardiovascular disease, and liver injury. Despite the copious amount of research on this topic, by 2030, 8.3 million deaths are projected to occur worldwide due to tobacco use. The expression of noncoding RNAs, primarily microRNAs (miRNAs and long noncoding RNAs (lncRNAs, is modulated by tobacco and alcohol consumption. Drinking alcohol and smoking cigarettes can modulate the expression of miRNAs and lncRNAs through various signaling pathways, such as apoptosis, angiogenesis, and inflammatory pathways—primarily interleukin 6 (IL-6/signal transducer and activator of transcription 3 (STAT3, which seems to play a major role in the development of diseases associated with these risk factors. Since they may be predictive and prognostic biomarkers, they can be used both as predictors of the response to therapy and as a targeted therapy. Further, circulating miRNAs might be valuable noninvasive tools that can be used to examine diseases that are related to the use of tobacco and alcohol. This review discusses the function of noncoding RNAs in cancer and other human tobacco- and alcohol-associated diseases.

  17. Global Considerations in Human Immunodeficiency Virus-Associated Respiratory Disease.

    Rylance, Jamie; Meghji, Jamilah; Miller, Robert F; Ferrand, Rashida A

    2016-04-01

    Respiratory tract infection, particularly tuberculosis, is a major cause of mortality among human immunodeficiency virus (HIV)-infected individuals. Antiretroviral therapy (ART) has resulted in a dramatic increase in survival, although coverage of HIV treatment remains low in many parts of the world. There is a concurrent growing burden of chronic noninfectious respiratory disease as a result of increased survival. Many risk factors associated with the development of respiratory disease, such as cigarette smoking and intravenous drug use, are overrepresented among people living with HIV. In addition, there is emerging evidence that HIV infection may directly cause or accelerate the course of chronic lung disease. This review summarizes the clinical spectrum and epidemiology of respiratory tract infections and noninfectious pulmonary pathologies, and factors that explain the global variation in HIV-associated respiratory disease. The potential for enhancing diagnoses of noninfective chronic conditions through the use of clinical algorithms is discussed. We also consider issues in assessment and management of HIV-related respiratory disease in view of the increasing global scale up of ART. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  18. Phytotoxins Produced by Fungi Associated with Grapevine Trunk Diseases

    Andolfi, Anna; Mugnai, Laura; Luque, Jordi; Surico, Giuseppe; Cimmino, Alessio; Evidente, Antonio

    2011-01-01

    Up to 60 species of fungi in the Botryosphaeriaceae family, genera Cadophora, Cryptovalsa, Cylindrocarpon, Diatrype, Diatrypella, Eutypa, Eutypella, Fomitiporella, Fomitiporia, Inocutis, Phaeoacremonium and Phaeomoniella have been isolated from decline-affected grapevines all around the World. The main grapevine trunk diseases of mature vines are Eutypa dieback, the esca complex and cankers caused by the Botryospheriaceae, while in young vines the main diseases are Petri and black foot diseases. To understand the mechanism of these decline-associated diseases and the symptoms associated with them, the toxins produced by the pathogens involved in these diseases were isolated and characterised chemically and biologically. So far the toxins of only a small number of these decline fungi have been studied. This paper presents an overview of the toxins produced by the most serious of these vine wood pathogens: Eutypa lata, Phaeomoniella chlamydospora, Phaeoacremonium aleophilum and some taxa in the Botryosphaeriaceae family, and examines how these toxins produce decline symptoms. The chemical structure of these metabolites and in some cases their vivotoxin nature are also discussed. PMID:22295177

  19. Phytotoxins Produced by Fungi Associated with Grapevine Trunk Diseases

    Antonio Evidente

    2011-12-01

    Full Text Available Up to 60 species of fungi in the Botryosphaeriaceae family, genera Cadophora, Cryptovalsa, Cylindrocarpon, Diatrype, Diatrypella, Eutypa, Eutypella, Fomitiporella, Fomitiporia, Inocutis, Phaeoacremonium and Phaeomoniella have been isolated from decline-affected grapevines all around the World. The main grapevine trunk diseases of mature vines are Eutypa dieback, the esca complex and cankers caused by the Botryospheriaceae, while in young vines the main diseases are Petri and black foot diseases. To understand the mechanism of these decline-associated diseases and the symptoms associated with them, the toxins produced by the pathogens involved in these diseases were isolated and characterised chemically and biologically. So far the toxins of only a small number of these decline fungi have been studied. This paper presents an overview of the toxins produced by the most serious of these vine wood pathogens: Eutypa lata, Phaeomoniella chlamydospora, Phaeoacremonium aleophilum and some taxa in the Botryosphaeriaceae family, and examines how these toxins produce decline symptoms. The chemical structure of these metabolites and in some cases their vivotoxin nature are also discussed.

  20. Nonalcoholic fatty liver disease, association with cardiovascular disease and treatment. (I). Nonalcoholic fatty liver disease and its association with cardiovascular disease.

    Brea, Ángel; Pintó, Xavier; Ascaso, Juan F; Blasco, Mariano; Díaz, Ángel; González-Santos, Pedro; Hernández Mijares, Antonio; Mantilla, Teresa; Millán, Jesús; Pedro-Botet, Juan

    Non-alcoholic fatty liver disease (NAFLD) comprises a series of histologically lesions similar to those induced by alcohol consumption in people with very little or no liver damage. The importance of NAFLD is its high prevalence in the Western world and, from the point of view of the liver, in its gradual progression from steatosis to steatohepatitis, cirrhosis, and liver cancer. During the last decade it has been observed that NAFLD leads to an increased cardiovascular risk with acceleration of arteriosclerosis and events related to it, being the main cause of its morbidity and mortality. This review, updated to January 2016, consists of two parts, with the first part analysing the association of NAFLD with cardiovascular disease. Copyright © 2016 Sociedad Española de Arteriosclerosis. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Abdominal obesity is associated with heart disease in dogs.

    Thengchaisri, Naris; Theerapun, Wutthiwong; Kaewmokul, Santi; Sastravaha, Amornrate

    2014-06-13

    The relationship between overall obesity and fat distribution in dogs and the development of heart disease is unclear. In the present study we evaluated the association between overall obesity and fat distribution and clinical heart disease by morphometric and computed tomography (CT)-based measurements. Body condition score (BCS), modified body mass index (MBMI, kg/m2), waist-to-hock-to-stifle distance ratio (WHSDR), waist-to-ilium wing distance ratio (WIWDR), and waist-to-truncal length ratio (WTLR) were compared between dogs with (n = 44) and without (n = 43) heart disease using receiver operating characteristic (ROC) analysis. Intra-abdominal fat (IAF) and subcutaneous fat (SQF) were measured in dogs with (n = 8) and without (n = 9) heart disease at the center of the fourth and fifth lumbar vertebrae by CT. BCS was similar between heart disease and healthy groups (3.6 ± 0.2 vs. 3.3 ± 0.1, P = 0.126). The following morphometric measurements were greater in the heart disease group compared with healthy canines: MBMI (65.0 ± 4.5 vs. 52.5 ± 3.7 kg/m2, respectively, P = 0.035); WIWDR (4.1 ± 0.1 vs. 3.1 ± 0.1, P obesity, rather than overall obesity, is associated with heart disease in dogs. Measurements of both WIWDR and WTLR are particular useful for detection of an abdominal obesity in dogs.

  2. Immunoregulation by naturally occurring and disease-associated autoantibodies

    Nielsen, Claus H; Bendtzen, Klaus

    2012-01-01

    The role of naturally occurring autoantibodies (NAbs) in homeostasis and in disease manifestations is poorly understood. In the present chapter, we review how NAbs may interfere with the cytokine network and how NAbs, through formation of complement-activating immune complexes with soluble self......-antigens, may promote the uptake and presentation of self-molecules by antigen-presenting cells. Both naturally occurring and disease-associated autoantibodies against a variety of cytokines have been reported, including NAbs against interleukin (IL)-1α, IL-6, IL-8, IL-10, granulocyte-macrophage colony...

  3. Psychosis Crisis Associated with Thyrotoxicosis due to Graves’ Disease

    Lilibet Urias-Uribe

    2017-01-01

    Full Text Available We present the case of a patient with previous psychiatric illness, acutely exacerbated by thyroid storm due to Graves’ disease, in whom treatment with antipsychotics induced catatonia. These associations are extremely rare and may be confused with Hashimoto’s encephalopathy, especially in the presence of anti-thyroid antibodies in cerebrospinal fluid. The treatment consists in the control of the triggering disease (in this case the resolution of the thyrotoxicosis and the use of benzodiazepines. However, in some cases, the resolution of psychiatric symptoms is partial and may require the use of electroconvulsive therapy.

  4. Case report 379: 'Ulcer osteoma' associated with sickle cell disease

    Wiggins, T.; Bohrer, S.P.

    1986-01-01

    In summary, a 32-year-old black man with homozygous sickle cell anemia has been presented. The patient developed bilateral ulcers of the leg which never completely healed. In one leg he demonstrated a focal, fusiform, periosteal reaction which probably in time would become incorporated into the cortex, resulting in the formation of an ulcer osteoma of the tibia associated with sickle cell disease. The ulcer osteoma has the same radiological appearance as the ulcer osteoma in individuals in Africa without sickle cell disease. (orig./SHA)

  5. Cognitive and Motor Aspects of Parkinson's Disease Associated with Dysphagia.

    Kim, Ji Sun; Youn, Jinyoung; Suh, Mee Kyung; Kim, Tae-Eun; Chin, Juhee; Park, Suyeon; Cho, Jin Whan

    2015-11-01

    Dysphagia is a common symptom and an important prognostic factor in Parkinson's disease (PD). Although cognitive and motor dysfunctions may contribute to dysphagia in patients with PD, any specific association between such problems and swallowing functions is unclear. Here, we examined the potential relationship between cognitive/motor components and swallowing functions in PD. We evaluated the contributions of cognition and motor function to the components of swallowing via video fluoroscopic swallowing (VFS) experiments. We prospectively enrolled 56 patients without dementia having PD. Parkinson's disease severity was assessed by the Unified Parkinson's Disease Rating Scale (UPDRS). All participants received neuropsychological tests covering general mental status, visuospatial function, attention, language, learning and memory, and frontal executive function. The well-validated "modified barium swallow impairment profile" scoring system was applied during VFS studies to quantify swallowing impairments. Finally, correlations between neuropsychological or motor functions and impairment in swallowing components were calculated. The most significant correlations were found between the frontal/executive or learning/memory domains and the oral phase of swallowing, though a minor component of the pharyngeal phase correlated with frontal function as well. Bradykinesia and the UPDRS total score were associated with both the pharyngeal and oral phases. Our findings suggest that cognitive dysfunctions are associated with the oral phase of swallowing in patients with early stage PD while the severity of motor symptoms may be associated with overall swallowing function.

  6. Association of extraintestinal manifestations and anaemia with disease outcomes in patients with inflammatory bowel disease.

    Vegh, Zsuzsanna; Kurti, Zsuzsanna; Gonczi, Lorant; Golovics, Petra Anna; Lovasz, Barbara Dorottya; Szita, Istvan; Balogh, Mihaly; Pandur, Tunde; Vavricka, Stephan R; Rogler, Gerhard; Lakatos, Laszlo; Lakatos, Peter Laszlo

    2016-07-01

    The association between extraintestinal manifestations (EIMs) and disease activity suggest a common pathogenetic link with inflammatory bowel disease (IBD). We report on the association of EIMs and anaemia with long-term disease outcomes, including treatment steps, hospitalization, and surgery in the prospective population-based IBD inception cohort from Veszprem province. Data of 678 incident IBD patients (Crohn's disease/ulcerative colitis(CD/UC): 331/347) diagnosed from 1st January 2000 to 31st December 2012 were analyzed (CD: m/f: 176/155, median age at diagnosis: 28, IQR: 21-40 years, disease duration: 6, IQR: 2-9 years; UC: m/f: 200/147, median age at diagnosis: 36, IQR: 26-50 years, duration: 7, IQR: 4-10 years). EIMs were present in 30% of the CD and 17.3% of the UC patients. In CD, female gender (p = 0.02) need for steroid (p  < 0.001) and azathioprine (AZA) (p = 0.02), while in UC, young age at onset (p = 0.03), extensive disease (p = 0.003), female gender (p = 0.07), need for steroids (p < 0.001) and AZA (p = 0.004) and need for IBD-related hospitalization (p = 0.01) were associated with the presence of EIMs. Anaemia was present in 56.7% of the CD and 30.2% of the UC patients. In both CD and UC anaemia was associated with age at onset (pCD = 0.001, pUC = 0.04), disease location/extent (pCD = 0.02, pUC < 0.001), steroid and AZA use (for both pCD,UC < 0.001), need for surgery/colectomy (pCD < 0.001, pUC = 0.002) and hospitalization (pCD = 0.004, pUC < 0.001) and in CD, it was associated with anti TNF therapy(p = 0.002). The presence of EIMs was associated with disease phenotype in UC and with treatment strategy in both CD and UC. Additionally, anaemia was associated with hospitalization and surgery in both CD and UC, suggesting that EIMs and anaemia may be helpful in stratifying disease severity in IBD.

  7. A case of severe autoimmune hepatitis associated with Graves' disease

    Samia Abdulla Bokhari

    2016-01-01

    Full Text Available Graves' disease is a common condition and is known to have a wide range of effects on a variety of organs. Hepatic dysfunction ranging from mild to severe due to direct effect of high circulating thyroid hormones as well as a deleterious effect of antithyroid medications (methimazole and propylthiouracil has been well - documented in literature. However, severe autoimmune hepatitis (AIH associated with Graves' disease is rare and limited to few case reports only. A 38-year-old woman presented with abdominal pain and yellowish discolouration of conjunctivae. On investigation, she was found to have Graves' disease and AIH. The liver histopathology showed typical features of AIH. She responded excellently to glucocorticoid therapy with normalisation of thyroid function and liver histology. The case is discussed with relevant literature review.

  8. Cerebral blood flow changes in Parkinson's disease associated with dementia

    Derejko, M.; Lass, P.; Slawek, J.; Nyka, W.M.

    2001-01-01

    Dementia is one of the main non-motor symptoms of Parkinson's disease (PD) and it is diagnosed in about 30% of cases. Its aetiology remains unclear and contributing factors are controversial. Dementia may be more common in old patients with severe motor symptoms and mild cognitive impairment. Clinico-pathological studies show the association between dementia in PD and the age-related group of dementias, such as AD and VaD. A valuable aid in the assessment of dementia in PD is cerebral blood flow (CBF) brain SPECT scanning. It shows three different patterns of rCBF reduction, including frontal lobe hypoperfusion, iu Alzheimer-likel type of hypoperfusion and multiple, vascular defects. The heterogeneity of rCBF reduction may reflect the multifactorial pathophysiology of dementia in PD. It may result from concomitant AD pathology, cerebrovascular disease, destruction of nigro-striato-frontal projection or may be a distinct disease of different aetiology. (author)

  9. Clinical spectrum of Castleman disease-associated neuropathy.

    Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay; Mauermann, Michelle L

    2016-12-06

    To define the peripheral neuropathy phenotypes associated with Castleman disease. We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study. © 2016 American Academy of Neurology.

  10. Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease

    Manish M. Sood

    2018-05-01

    Full Text Available Introduction: Metabolomics offers considerable promise in early disease detection. We set out to test the hypothesis that routine newborn metabolic profiles at birth, obtained through screening for inborn errors of metabolism, would be associated with kidney disease and add incremental information to known clinical risk factors. Methods: We conducted a population-level cohort study in Ontario, Canada, using metabolic profiles from 1,288,905 newborns from 2006 to 2015. The primary outcome was chronic kidney disease (CKD or dialysis. Individual metabolites and their ratio combinations were examined by logistic regression after adjustment for established risk factors for kidney disease and incremental risk prediction measured. Results: CKD occurred in 2086 (0.16%, median time 612 days and dialysis in 641 (0.05%, median time 99 days infants and children. Individual metabolites consisted of amino acids, acylcarnitines, markers of fatty acid oxidation, and others. Base models incorporating clinical risk factors only provided c-statistics of 0.61 for CKD and 0.70 for dialysis. The addition of identified metabolites to risk prediciton models resulted in significant incremental improvement in the performance of both models (CKD model: c-statistic 0.66 NRI 0.36 IDI 0.04, dialysis model: c-statistic 0.77 NRI 0.57 IDI 0.09. This was consistent after internal validation using bootstrapping and a sensitivity analysis excluding outcomes within the first 30 days. Conclusion: Routinely collected screening metabolites at birth are associated with CKD and the need for dialytic therapies in infants and children, and add incremental information to traditional clinical risk factors. Keywords: chronic kidney disease, dialysis, end-stage kidney disease, metabolomics, newborn screening, pediatric, renal failure

  11. Common and Rare Genetic Variants Associated With Alzheimer's Disease.

    Marei, Hany E; Althani, Asmaa; Suhonen, Jaana; El Zowalaty, Mohamed E; Albanna, Mohammad A; Cenciarelli, Carlo; Wang, Tengfei; Caceci, Thomas

    2016-07-01

    Alzheimer's disease (AD) is one of the most devastating disorders. Despite the continuing increase of its incidence among aging populations, no effective cure has been developed mainly due to difficulties in early diagnosis of the disease before damaging of the brain, and the failure to explore its complex underlying molecular mechanisms. Recent technological advances in genome-wide association studies (GWAS) and high throughput next generation whole genome, and exome sequencing had deciphered many of AD-related loci, and discovered single nucleotide polymorphisms (SNPs) that are associated with altered AD molecular pathways. Highlighting altered molecular pathways linked to AD pathogenesis is crucial to identify novel diagnostic and therapeutic AD targets. © 2015 Wiley Periodicals, Inc.

  12. Association between periodontal disease and dementia: A literature review.

    Pazos, P; Leira, Y; Domínguez, C; Pías-Peleteiro, J M; Blanco, J; Aldrey, J M

    2016-10-22

    Periodontal disease and dementia are very prevalent, especially in elderly populations. Multiple studies have shown a link between these diseases; however, the conditions are highly heterogeneous and so is the diagnostic methodology, which may hinder interpretation and comparison of the results. The aim of this article is to provide a critical review of the literature linking these 2 processes. We retrieved 22 studies, most of which were retrospective, and analysed various methodological variables including study population, diagnosis of periodontitis, definition of dementia, adjusted variables, and results. The different aetiopathogenic mechanisms that may affect the progression and interaction of these 2 conditions were also analysed. Although available evidence indicates a positive association between periodontitis and dementia, both the strength of that association and the presence of a causal relationship have yet to be determined. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Association of Peripheral Arterial and Cardiovascular Diseases in Familial Hypercholesterolemia

    Pereira, Carolina; Miname, Marcio; Makdisse, Marcia; Kalil, Roberto Filho; Santos, Raul D.

    2014-01-01

    Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c). Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD). This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD), such as coronary artery and cerebrovascular disease, in patients with heterozygous FH. The diagnosis of PAD was established by ankle-brachial index (ABI) values ≤ 0.90. This study assessed 202 patients (35% of men) with heterozygous FH (90.6% with LDL receptor mutations), mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg /dL. The prevalences of PAD and previous CVD were 17% and 28.2 %, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049). Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients

  14. Association of Peripheral Arterial and Cardiovascular Diseases in Familial Hypercholesterolemia

    Carolina Pereira

    2014-08-01

    Full Text Available Background: Familial hypercholesterolemia (FH is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c. Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD. Objective: This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD, such as coronary artery and cerebrovascular disease, in patients with heterozygous FH. Methods: The diagnosis of PAD was established by ankle-brachial index (ABI values ≤ 0.90. This study assessed 202 patients (35% of men with heterozygous FH (90.6% with LDL receptor mutations, mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg /dL. Results: The prevalences of PAD and previous CVD were 17% and 28.2 %, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049. Conclusion: Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients.

  15. Plastic waste associated with disease on coral reefs.

    Lamb, Joleah B; Willis, Bette L; Fiorenza, Evan A; Couch, Courtney S; Howard, Robert; Rader, Douglas N; True, James D; Kelly, Lisa A; Ahmad, Awaludinnoer; Jompa, Jamaluddin; Harvell, C Drew

    2018-01-26

    Plastic waste can promote microbial colonization by pathogens implicated in outbreaks of disease in the ocean. We assessed the influence of plastic waste on disease risk in 124,000 reef-building corals from 159 reefs in the Asia-Pacific region. The likelihood of disease increases from 4% to 89% when corals are in contact with plastic. Structurally complex corals are eight times more likely to be affected by plastic, suggesting that microhabitats for reef-associated organisms and valuable fisheries will be disproportionately affected. Plastic levels on coral reefs correspond to estimates of terrestrial mismanaged plastic waste entering the ocean. We estimate that 11.1 billion plastic items are entangled on coral reefs across the Asia-Pacific and project this number to increase 40% by 2025. Plastic waste management is critical for reducing diseases that threaten ecosystem health and human livelihoods. Copyright © 2018, The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

  16. Association of Peripheral Arterial and Cardiovascular Diseases in Familial Hypercholesterolemia

    Pereira, Carolina [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Hospital Israelita Albert Einstein, São Paulo, SP (Brazil); Miname, Marcio [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Makdisse, Marcia [Hospital Israelita Albert Einstein, São Paulo, SP (Brazil); Kalil, Roberto Filho [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Santos, Raul D., E-mail: rdsf@cardiol.br [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Hospital Israelita Albert Einstein, São Paulo, SP (Brazil)

    2014-08-15

    Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c). Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD). This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD), such as coronary artery and cerebrovascular disease, in patients with heterozygous FH. The diagnosis of PAD was established by ankle-brachial index (ABI) values ≤ 0.90. This study assessed 202 patients (35% of men) with heterozygous FH (90.6% with LDL receptor mutations), mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg /dL. The prevalences of PAD and previous CVD were 17% and 28.2 %, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049). Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients.

  17. Periodontitis associated with chronic kidney disease among Mexican Americans.

    Ioannidou, Effie; Hall, Yoshio; Swede, Helen; Himmelfarb, Jonathan

    2013-01-01

    In comparison to non-Hispanic whites, a number of health-care disparities, including poor oral health, have been identified among Hispanics in general and Mexican Americans in particular. We hypothesized that Mexican Americans with chronic kidney disease (CKD) would have higher prevalence of chronic periodontitis compared with Mexican Americans with normal kidney function, and that the level of kidney function would be inversely related to the prevalence of periodontal disease. We examined this hypothesis using the National Health and Nutrition Examination Survey 1988-1994 (NHANES III) data set. We followed the American Academy of Periodontology/Center for Disease Control and Prevention case definition for periodontitis. Glomerular filtration rate was estimated using the CKD-Epidemiology equation for Hispanic populations. The classification to CKD stages was based on the National Kidney Foundation Kidney Disease Outcomes Quality Initiative. Periodontitis prevalence increased across the kidney function groups showing a statistically significant dose-response association (Pperiodontitis compared with Mexican Americans with normal kidney function after adjusting for potential confounders such as smoking, diabetes, and socioeconomic status. Multivariate adjusted odds ratio for periodontitis significantly increased with 1, 5, and 10 mL/minute estimated glomerular filtration rate reduction from the mean. This is the first report, to the best our knowledge, that showed an increase of periodontitis prevalence with decreased kidney function in this population. © 2012 American Association of Public Health Dentistry.

  18. Radiological diagnosis in AIDS - associated diseases: survey and differential diagnosis

    Rademaker, J.; Frahm, C.

    1997-01-01

    Acute manifestations of illnesses in patients with HIV-infection or AIDS will benefit from rapid diagnosis. Radiologic examinations provide substantial information to narrow the differential diagnosis. This article reviews clinically important HIV-associated diseases for the radiologist. The braod spectrum of possible manifestations is illustrated by the accompanying case reports that typify the complexity of diagnoses in this growing problem worldwide. (orig.) [de

  19. Grave′s disease associated with immunoglobulin A nephropathy: A rare association

    I Khan; R A Bhat; I Khan; I Hameed

    2015-01-01

    Immunoglobulin A (Ig A) nephropathy is the most common form of primary glomerulonephritis. The association of Ig A nephropathy with Grave's disease has not been reported so far. We report a case of 20-year-old female with Grave's disease who presented with edema, facial puffiness, and decreased urine output. She was found to be hypertensive with renal failure and nephrotic range proteinuria. Renal biopsy revealed features of Ig A nephropathy. The patient was treated with oral corticosteroids ...

  20. Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

    Duess, Johannes W; Puri, Prem

    2015-08-01

    Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

  1. Altered oral viral ecology in association with periodontal disease.

    Ly, Melissa; Abeles, Shira R; Boehm, Tobias K; Robles-Sikisaka, Refugio; Naidu, Mayuri; Santiago-Rodriguez, Tasha; Pride, David T

    2014-05-20

    The human oral cavity is home to a large and diverse community of viruses that have yet to be characterized in patients with periodontal disease. We recruited and sampled saliva and oral biofilm from a cohort of humans either periodontally healthy or with mild or significant periodontal disease to discern whether there are differences in viral communities that reflect their oral health status. We found communities of viruses inhabiting saliva and the subgingival and supragingival biofilms of each subject that were composed largely of bacteriophage. While there were homologous viruses common to different subjects and biogeographic sites, for most of the subjects, virome compositions were significantly associated with the oral sites from which they were derived. The largest distinctions between virome compositions were found when comparing the subgingival and supragingival biofilms to those of planktonic saliva. Differences in virome composition were significantly associated with oral health status for both subgingival and supragingival biofilm viruses but not for salivary viruses. Among the differences identified in virome compositions was a significant expansion of myoviruses in subgingival biofilm, suggesting that periodontal disease favors lytic phage. We also characterized the bacterial communities in each subject at each biogeographic site by using the V3 hypervariable segment of the 16S rRNA and did not identify distinctions between oral health and disease similar to those found in viral communities. The significantly altered ecology of viruses of oral biofilm in subjects with periodontal disease compared to that of relatively periodontally healthy ones suggests that viruses may serve as useful indicators of oral health status. Little is known about the role or the constituents of viruses as members of the human microbiome. We investigated the composition of human oral viral communities in a group of relatively periodontally healthy subjects or significant

  2. Elevated pulse pressure is associated with hemolysis, proteinuria and chronic kidney disease in sickle cell disease.

    Enrico M Novelli

    Full Text Available A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse pressure, unlike other blood pressure parameters, is independently associated with markers of hemolytic anemia and cardiovascular risk in sickle cell disease. We analyzed the correlates of pulse pressure in patients (n  =  661 enrolled in a multicenter international sickle cell trial. Markers of hemolysis were analyzed as independent variables and as a previously validated hemolytic index that includes multiple variables. We found that pulse pressure, not systolic, diastolic or mean arterial pressure, independently correlated with high reticulocyte count (beta  =  2.37, p  =  0.02 and high hemolytic index (beta  =  1.53, p = 0.002 in patients with homozygous sickle cell disease in two multiple linear regression models which include the markers of hemolysis as independent variables or the hemolytic index, respectively. Pulse pressure was also independently associated with elevated serum creatinine (beta  =  3.21, p  =  0.02, and with proteinuria (beta  =  2.52, p  =  0.04. These results from the largest sickle cell disease cohort to date since the Cooperative Study of Sickle Cell Disease show that pulse pressure is independently associated with hemolysis, proteinuria and chronic kidney disease. We propose that high pulse pressure may be a risk factor for clinical complications of vascular dysfunction in sickle cell disease. Longitudinal and mechanistic studies should be conducted to confirm these hypotheses.

  3. Molecular identification of bacteria associated with canine periodontal disease.

    Riggio, Marcello P; Lennon, Alan; Taylor, David J; Bennett, David

    2011-06-02

    Periodontal disease is one of the most common diseases of adult dogs, with up to 80% of animals affected. The aetiology of the disease is poorly studied, although bacteria are known to play a major role. The purpose of this study was to identify the bacteria associated with canine gingivitis and periodontitis and to compare this with the normal oral flora. Swabs were obtained from the gingival margin of three dogs with gingivitis and three orally healthy controls, and subgingival plaque was collected from three dogs with periodontitis. Samples were subjected to routine bacterial culture. The prevalent species identified in the normal, gingivitis and periodontitis groups were uncultured bacterium (12.5% of isolates), Bacteroides heparinolyticus/Pasteurella dagmatis (10.0%) and Actinomyces canis (19.4%), respectively. Bacteria were also identified using culture-independent methods (16S rRNA gene sequencing) and the predominant species identified were Pseudomonas sp. (30.9% of clones analysed), Porphyromonas cangingivalis (16.1%) and Desulfomicrobium orale (12.0%) in the normal, gingivitis and periodontitis groups, respectively. Uncultured species accounted for 13.2%, 2.0% and 10.5%, and potentially novel species for 38.2%, 38.3% and 35.3%, of clones in the normal, gingivitis and periodontitis groups, respectively. This is the first study to use utilise culture-independent methods for the identification of bacteria associated with this disease. It is concluded that the canine oral flora in health and disease is highly diverse and also contains a high proportion of uncultured and, in particular, potentially novel species. Copyright © 2011 Elsevier B.V. All rights reserved.

  4. MBL-associated serine proteases (MASPs) and infectious diseases.

    Beltrame, Marcia H; Boldt, Angelica B W; Catarino, Sandra J; Mendes, Hellen C; Boschmann, Stefanie E; Goeldner, Isabela; Messias-Reason, Iara

    2015-09-01

    The lectin pathway of the complement system has a pivotal role in the defense against infectious organisms. After binding of mannan-binding lectin (MBL), ficolins or collectin 11 to carbohydrates or acetylated residues on pathogen surfaces, dimers of MBL-associated serine proteases 1 and 2 (MASP-1 and MASP-2) activate a proteolytic cascade, which culminates in the formation of the membrane attack complex and pathogen lysis. Alternative splicing of the pre-mRNA encoding MASP-1 results in two other products, MASP-3 and MAp44, which regulate activation of the cascade. A similar mechanism allows the gene encoding MASP-2 to produce the truncated MAp19 protein. Polymorphisms in MASP1 and MASP2 genes are associated with protein serum levels and functional activity. Since the first report of a MASP deficiency in 2003, deficiencies in lectin pathway proteins have been associated with recurrent infections and several polymorphisms were associated with the susceptibility or protection to infectious diseases. In this review, we summarize the findings on the role of MASP polymorphisms and serum levels in bacterial, viral and protozoan infectious diseases. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Genome-wide association studies in Alzheimer's disease.

    Bertram, Lars; Tanzi, Rudolph E

    2009-10-15

    Genome-wide association studies (GWAS) have gained considerable momentum over the last couple of years for the identification of novel complex disease genes. In the field of Alzheimer's disease (AD), there are currently eight published and two provisionally reported GWAS, highlighting over two dozen novel potential susceptibility loci beyond the well-established APOE association. On the basis of the data available at the time of this writing, the most compelling novel GWAS signal has been observed in GAB2 (GRB2-associated binding protein 2), followed by less consistently replicated signals in galanin-like peptide (GALP), piggyBac transposable element derived 1 (PGBD1), tyrosine kinase, non-receptor 1 (TNK1). Furthermore, consistent replication has been recently announced for CLU (clusterin, also known as apolipoprotein J). Finally, there are at least three replicated loci in hitherto uncharacterized genomic intervals on chromosomes 14q32.13, 14q31.2 and 6q24.1 likely implicating the existence of novel AD genes in these regions. In this review, we will discuss the characteristics and potential relevance to pathogenesis of the outcomes of all currently available GWAS in AD. A particular emphasis will be laid on findings with independent data in favor of the original association.

  6. Association between environmental exposure to pesticides and neurodegenerative diseases

    Parrón, Tesifón; Requena, Mar; Hernández, Antonio F.; Alarcón, Raquel

    2011-01-01

    Preliminary studies have shown associations between chronic pesticide exposure in occupational settings and neurological disorders. However, data on the effects of long-term non-occupational exposures are too sparse to allow any conclusions. This study examines the influence of environmental pesticide exposure on a number of neuropsychiatric conditions and discusses their underlying pathologic mechanisms. An ecological study was conducted using averaged prevalence rates of Alzheimer's disease, Parkinson's disease, multiple sclerosis, cerebral degeneration, polyneuropathies, affective psychosis and suicide attempts in selected Andalusian health districts categorized into areas of high and low environmental pesticide exposure based on the number of hectares devoted to intensive agriculture and pesticide sales per capita. A total of 17,429 cases were collected from computerized hospital records (minimum dataset) between 1998 and 2005. Prevalence rates and the risk of having Alzheimer's disease, Parkinson's disease, multiple sclerosis and suicide were significantly higher in districts with greater pesticide use as compared to those with lower pesticide use. The multivariate analyses showed that the population living in areas with high pesticide use had an increased risk for Alzheimer's disease and suicide attempts and that males living in these areas had increased risks for polyneuropathies, affective disorders and suicide attempts. In conclusion, this study supports and extends previous findings and provides an indication that environmental exposure to pesticides may affect the human health by increasing the incidence of certain neurological disorders at the level of the general population. -- Highlights: ► Environmental exposure to pesticides and neurodegenerative–psychiatric disorders. ► Increased risk for Alzheimer's disease and suicide attempts in high exposure areas. ► Males from areas with high pesticide exposure had a higher risk of polyneuropathy.

  7. Impulsive-compulsive behaviors in parkin-associated Parkinson disease.

    Morgante, Francesca; Fasano, Alfonso; Ginevrino, Monia; Petrucci, Simona; Ricciardi, Lucia; Bove, Francesco; Criscuolo, Chiara; Moccia, Marcello; De Rosa, Anna; Sorbera, Chiara; Bentivoglio, Anna Rita; Barone, Paolo; De Michele, Giuseppe; Pellecchia, Maria Teresa; Valente, Enza Maria

    2016-10-04

    The aim of this multicenter, case-control study was to investigate the prevalence and severity of impulsive-compulsive behaviors (ICBs) in a cohort of patients with parkin-associated Parkinson disease (PD) compared to a group of patients without the mutation. We compared 22 patients with biallelic parkin mutations (parkin-PD) and 26 patients negative for parkin, PINK1, DJ-1, and GBA mutations (PD-NM), matched for age at onset, disease duration, levodopa, and dopamine agonist equivalent daily dose. A semistructured interview was used to diagnose each of the following ICBs: compulsive sexual behavior, compulsive buying, binge eating, punding, hobbyism, and compulsive medication use. The Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) was adopted to rate ICB severity. Frequency of patients with at least one ICB was comparable between parkin-PD and PD-NM. Nevertheless, when analyzing the distribution of specific ICBs, a higher frequency of compulsive shopping, binge eating, and punding/hobbyism was found in the parkin-PD group. Compared to PD-NM, parkin-PD patients with ICB had younger onset age and higher frequency of smokers; in 5 patients, ICB had predated PD onset. Total and partial (compulsive buying, compulsive sexual behavior, binge eating, hobbyism/punding) QUIP-RS scores were higher in patients with parkin-PD compared to patients with PD-NM. Logistic regression analysis showed that the presence of parkin mutations was associated with smoking status and higher QUIP-RS total score. Our data expand the parkin-associated phenotypic spectrum demonstrating higher frequency and severity of specific ICBs, and suggesting an association between the parkin genotype, smoking status, and ICB severity. © 2016 American Academy of Neurology.

  8. Cerebral Metabolic Differences Associated with Cognitive Impairment in Parkinson's Disease.

    Yilin Tang

    Full Text Available To characterize cerebral glucose metabolism associated with different cognitive states in Parkinson's disease (PD using 18F-fluorodeoxyglucose (FDG and Positron Emission Tomography (PET.Three groups of patients were recruited in this study including PD patients with dementia (PDD; n = 10, with mild cognitive impairment (PD-MCI; n = 20, and with no cognitive impairment (PD-NC; n = 30. The groups were matched for age, sex, education, disease duration, motor disability, levodopa equivalent dose and Geriatric Depression Rating Scale (GDS score. All subjects underwent a FDG-PET study. Maps of regional metabolism in the three groups were compared using statistical parametric mapping (SPM5.PD-MCI patients exhibited limited areas of hypometabolism in the frontal, temporal and parahippocampal gyrus compared with the PD-NC patients (p < 0.01. PDD patients had bilateral areas of hypometabolism in the frontal and posterior parietal-occipital lobes compared with PD-MCI patients (p < 0.01, and exhibited greater metabolic reductions in comparison with PD-NC patients (p < 0.01.Compared with PD-NC patients, hypometabolism was much higher in the PDD patients than in PD-MCI patients, mainly in the posterior cortical areas. The result might suggest an association between posterior cortical hypometabolism and more severe cognitive impairment. PD-MCI might be important for early targeted therapeutic intervention and disease modification.

  9. Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome

    Hiroyuki Minemura

    2018-04-01

    Full Text Available Multicentric Castleman's disease (MCD is lymphoproliferative disorder characterized by systemic inflammatory symptoms such as fever and weight loss. Human herpes virus-8 (HHV-8 is thought to be a causable pathogen in all HIV-positive and some HIV-negative MCD patients. Furthermore, the term idiopathic MCD (iMCD was recently proposed to represent a group of HIV-negative and HHV-8-negative patients with unknown etiologies. Although the international diagnostic criteria for iMCD require exclusion of infection-related disorders, autoimmune/autoinflammatory diseases and malignant/lymphoproliferative disorders to make an iMCD diagnosis, the relationships and differences between these disorders and MCD have not yet been clarified. We recently reported the first case of MCD with autoimmune lymphoproliferative syndrome (ALPS. Although ALPS was included in the iMCD exclusion criteria as an autoimmune/autoinflammatory disease according to the international diagnostic criteria, there is a lack of evidence on the association between MCD and ALPS. In this study, we review the recent understanding of MCD and discuss the possible association between MCD with ALPS.

  10. Associations between B Vitamins and Parkinson’s Disease

    Liang Shen

    2015-08-01

    Full Text Available B vitamins may correlate with Parkinson’s disease (PD through regulating homocysteine level. However, there is no comprehensive assessment on the associations between PD and B vitamins. The present study was designed to perform a meta-analytic assessment of the associations between folate, vitamin B6, and vitamin B12 and PD, including the status of B vitamins in PD patients compared with controls, and associations of dietary intakes of B vitamins and risk of PD. A literature search using Medline database obtained 10 eligible studies included in the meta-analyses. Stata 12.0 statistical software was used to perform the meta-analysis. Pooled data revealed that there was no obvious difference in folate level between PD patients and healthy controls, and PD patients had lower level of vitamin B12 than controls. Available data suggested that higher dietary intake of vitamin B6 was associated with a decreased risk of PD (odds ratio (OR = 0.65, 95% confidence intervals (CI = (0.30, 1.01, while no significant association was observed for dietary intake of folate and vitamin B12 and risk of PD. PD patients had lower level of vitamin B12 and similar level of folate compared with controls. Dietary intake of vitamin B6 exhibited preventive effect of developing PD based on the available data. As the number of included studies is limited, more studies are needed to confirm the findings and elucidate the underpinning underlying these associations.

  11. Association between Noise Pollution and Prevalent Ischemic Heart Disease.

    Dzhambov, Angel M; Dimitrova, Donka D

    2016-12-01

    Noise pollution is considered a risk factor for ischemic heart disease (IHD). Both are highly prevalent in Bulgaria, but their association has not been studied sufficiently. The aim of the present study was to examine the risk of IHD associated with road traffic (Lden) and lifetime occupational noise exposure (LONE) in a Bulgarian sample. A cross-sectional survey was carried out among 513 residents of Plovdiv, Bulgaria. A questionnaire asked about doctor-diagnosed IHD, LONE and confounding factors. Lden was derived from official noise map after geocoding participants' addresses. In log-link Poisson regressions we investigated the relative risks of prevalent IHD. Sensitivity analyses examined subgroup differences. Lden ≥ 65 dB was associated with higher risk (RR=1.84, 95% CI: 0.61, 5.57) of IHD in long-term residents (≥ 20 years). LONE was associated with RR=1.76 (0.82, 3.78) for ever-exposed; and RR=2.35 (1.00, 5.52) for 15 - 47 years exposure. Exposure to Lden≥65 dB was associated with non-significantly higher risk of IHD. Longer LONE was consistently associated with higher risk. In some subgroups the effect of noise was more pronounced.

  12. Economic burden of disease-associated malnutrition in China.

    Linthicum, Mark T; Thornton Snider, Julia; Vaithianathan, Rhema; Wu, Yanyu; LaVallee, Chris; Lakdawalla, Darius N; Benner, Jennifer E; Philipson, Tomas J

    2015-05-01

    Disease-associated malnutrition (DAM) is a well-recognized problem in many countries, but the extent of its burden on the Chinese population is unclear. This article reports the results of a burden-of-illness study on DAM in 15 diseases in China. Using data from the World Health Organization (WHO), the China Health and Nutrition Survey, and the published literature, mortality and disability-adjusted life years (DALYs) lost because of DAM were calculated; a financial value of this burden was calculated following WHO guidelines. DALYs lost annually to DAM in China varied across diseases, from a low of 2248 in malaria to a high of 1 315 276 in chronic obstructive pulmonary disease. The total burden was 6.1 million DALYs, for an economic burden of US$66 billion (Chinese ¥ 447 billion) annually. This burden is sufficiently large to warrant immediate attention from public health officials and medical providers, especially given that low-cost and effective interventions are available. © 2014 APJPH.

  13. Lysosome-associated hypertrophic cardiomyopathy (Danon's disease in two siblings

    I. V. Leontyeva

    2015-01-01

    Full Text Available The paper presents a clinical observation of two siblings with Danon's disease (lysosome-associated cardiomyopathy verified by genetic examination. Heart lesion in Danon's disease bears a phenotypic similarity to the primary forms of hypertrophic cardiomyopathy; in this connection the correct etiology of the disease has remained long unestablished. The presence of laboratory markers as the significantly raised levels of transaminases, creatine phosphokinase, and lactate dehydrogenase was as a guide for suspecting the metabolic origin of the disease. Two siblings with a similar LAMP gene mutation were observed to have a different clinical course: a severer clinical course of cardiomyopathy with extreme myocardial hypertrophy, myocardial electric instability, and mental development retardation in one case and a more favorable course in the other; although a 2-year follow-up also revealed negative changes. For the prevention of sudden cardiac death, a cardioverter defibrulator was implanted and continuous therapy with p-adrenoblockers was performed. The specific feature of the cases was no symptoms of skeletal myopathy, moderate mental retardation only in the elder brother, no evidence of an accessory atrioventricular junction despite the fact that there were ECG manifestations of Wolff-Parkinson-White syndrome

  14. Radiotherapy-induced aortic valve disease associated with porcelain aorta

    Daitoku, Kazuyuki; Fukui, Kozo; Ichinoseki, Ikkoh; Munakata, Mamoru; Takahashi, Shoichi; Fukuda Ikuo

    2004-01-01

    Mediastinal irradiation has been reported to induce cardiac disease such as pericarditis, valvular dysfunction, conduction abnormalities, accelerated arteriosclerosis of the coronary arteries, and also calcifications of the ascending aorta. We herein describe a case of radiotherapy-induced porcelain aorta and aortic valve disease and their surgical treatment. The patient was diagnosed with myasthenia gravis (MG) in 1965 (Osserman's type II), and mediastinal irradiation was performed in 1970 for treatment of thymic tumor associated with MG. Thirty years after radiation therapy, complete atrioventricular block and aortic valve disease with severe calcification of the ascending aorta and aortic arch (porcelain aorta) were detected on echo cardiogram and cardiac catheterization. A permanent pacemaker was implanted via the left subclavian vein and aortic valve replacement was performed under extracorporeal circulation established by selective cerebral perfusion and balloon occlusion instead of aortic cross-clamping. As no risk factors of arteriosclerosis such as hypercholesterolemia, hyperglycemia and hypertension were apparent, we concluded that the aortic valve disease and porcelain aorta were primarily induced by radiotherapy. (author)

  15. RISK FACTORS ASSOCIATED WITH CARDIOVASCULAR DISEASE IN PRISON POPULATION

    Ricardo Soares de OliveiraI

    2014-02-01

    Full Text Available This work aimed to make a reflection about the risk factors associated with cardiovascular disease in the prison population, as well as the performance of the health care team in these spaces. It is a reflective approach, literature that included e-journal articles, published in the year 2003 to 2011, indexed at LILACS, Scielo, MEDLINE, and available in full. Textbooks were also consulted and ordinances of Ministry of health and Justice of Brazil. Used the descriptors "risk factors," "cardiovascular disease" and "Prisoners". It was noted that the current situation of overcrowding in prisons is, with unhealthy environment, which imposes risks the health of prisoners. The living habits, such as use of alcohol and drugs (cocaine, marijuana, tranquillizers and tobacco, increases the risk for cardiovascular disease. In addition, the authors emphasize, a priori, the low level of schooling of the detainees. The performance of the health care team must be based on educational practices for promoting and monitoring the health, with multidisciplinary support. Further studies need to be done in order to investigate the incidence of cardiovascular diseases, as well as evidence of the effectiveness of health care for this population.

  16. [Prevalence of severe periodontal disease and its association with respiratory disease in hospitalized adult patients in a tertiary care center].

    Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; García-Sancho, Cecilia; Franco-Marina, Francisco; González-Cruz, Herminia

    2015-01-01

    Severe periodontal disease is a chronic inflammatory gingival process associated with systemic diseases. To determine the prevalence of severe periodontal disease and its association with respiratory diseases among hospitalized patients at the Institute of Respiratory Diseases "Ismael Cosio Villegas" (INER) in 2011. A cross-sectional study was developed. The severe periodontal disease was diagnosed by the Department of Stomatology. The International Classification of Diseases 10th revision was used. A multinomial logistic was fit to estimate relative-risk. Three thousand and fifty-nine patients were included; 772/3,059 (25.2%) had severe periodontal disease. After controlling for age, sex, inpatient days, death, and socioeconomic status, the infectious respiratory diseases that were significantly associated with severe periodontal disease were: HIV/AIDS (RR: 10.6; 95% CI: 9.1-23.3; p abscess (RR: 2.6; 95% CI: 1.6-7.8; p = 0.002). Lung cancer and pleural diseases were also significantly associated with severe periodontal disease. High prevalence of severe periodontal disease was observed in the different respiratory diseases. Severe periodontal disease was associated with both infectious and non-infectious respiratory diseases. It is important to study an oral health intervention.

  17. Parenteral nutrition-associated liver disease and lipid emulsions.

    Zugasti Murillo, Ana; Petrina Jáuregui, Estrella; Elizondo Armendáriz, Javier

    2015-01-01

    Parenteral nutrition-associated liver disease (PNALD) is a particularly important problem in patients who need this type of nutritional support for a long time. Prevalence of the condition is highly variable depending on the series, and its clinical presentation is different in adults and children. The etiology of PNALD is not well defined, and participation of several factors at the same time has been suggested. When a bilirubin level >2 mg/dl is detected for a long time, other causes of liver disease should be ruled out and risk factors should be minimized. The composition of lipid emulsions used in parenteral nutrition is one of the factors related to PNALD. This article reviews the different types of lipid emulsions and the potential benefits of emulsions enriched with omega-3 fatty acids. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  18. Endovascular treatment of basilar tip aneurysms associated with moyamoya disease

    Arita, K.; Kurisu, K.; Ohba, S.; Shibukawa, M.; Kiura, H.; Sakamoto, S.; Uozumi, T.; Nakahara, T.

    2003-01-01

    We report the efficacy and safety of endovascular treatment of basilar tip aneurysms (BTA) in five patients with moyamoya disease. The patients underwent intra-aneurysmal embolisation with detachable platinum coils. Three BTA presented with subarachnoid haemorrhage (SAH); the other two were asymptomatic. In four cases, one embolisation procedure produced >95% angiographic obliteration of the aneurysm. In the other patient, 80-90% obliteration was achieved initially, but due to growth of the residual aneurysm, the procedure was repeated 7 months later. Two patients experienced transient oculomotor paresis as a procedure-related complication. Mean follow-up was 43.6±34.0 months (range 8-92 months). One patient died of putaminal haemorrhage unrelated to the aneurysm 15 months after embolisation. The other four had no subsequent SAH and survived without sequelae. Endovascular embolisation using detachable platinum coils proved to be a safe and efficient treatment modality for BTA associated with moyamoya disease. (orig.)

  19. The association of opium with coronary artery disease.

    Sadeghian, Saeed; Darvish, Soodabeh; Davoodi, Gholamreza; Salarifar, Mojtaba; Mahmoodian, Mehran; Fallah, Nader; Karimi, Abbas Ali

    2007-10-01

    The effects of opium consumption on coronary artery disease are still unknown. A cross-sectional study was conducted on 2405 patients admitted to the Angiographic Ward at Tehran Heart Center from 7 May 2005 to 13 August 2005. After adjusting for conventional cardiovascular risk factors, opium consumption was a significant risk factor for coronary artery disease (P=0.01 and odds ratio=1.8). Moreover, the amount of opium consumption was associated significantly with the severity of coronary atherosclerosis, as measured by clinical vessel score (r=0.2, P=0.002). To our knowledge, this is the first time that the adverse effects of opium consumption on coronary arteries was defined.

  20. Urinary symptoms in Parkinson's disease: prevalence and associated factors

    Campos-Sousa Raimundo Nonato

    2003-01-01

    Full Text Available The authors present a cross-sectional study involving 61 patients with idiopathic Parkinson's disease (PD who were consecutively examined and compared to a control group with 74 subjects. Only patients who fulfilled the standard diagnostic criteria for PD and whose brain magnetic resonance imaging was normal were included. The objective of the study was to evaluate the prevalence of inferior urinary tract symptoms in PD and to study the possible association between clinical factors to urinary dysfunction. ln the patient group, 39.3% presented urinary symptoms when compared to 10.8% in the control group. All symptomatic patients presented irritative symptoms. The most common irritative symptom PD was nocturia, followed by frequency and urinary incontinence. Around 25% of the patients presented functional obstructive symptoms determined by the disease. The most frequent obstructive symptom was incomplete emptying of the bladder. Only the age of the patients and control group were correlated with urinary dysfunction.

  1. Associates of School Absenteeism in Adolescents With Sickle Cell Disease

    Schwartz, Lisa A.; Radcliffe, Jerilynn; Barakat, Lamia P.

    2009-01-01

    Background Despite high rates of school absenteeism in adolescents with sickle cell disease (SCD), the issue remains understudied. Potential associates of school absenteeism in adolescents with SCD include demographic (age, income), psychosocial (IQ, self-efficacy, competence, internalizing symptoms, negative thinking), and health-related (hemoglobin, health-care utilization, pain, disease knowledge). Procedure Forty participants ages 12–18 completed measures of psychosocial functioning, IQ, and pain. Medical chart reviews identified other health-related variables. A subsample also completed an assessment of goals. Using school records, absenteeism was the percent of school days missed in the previous year. Correlations tested associates of absenteeism and linear regression tested a model of absenteeism. Results Participants missed an average of 12% of the school year and more than 35% missed at least 1 month of school. Health-related and psychosocial variables, but not demographic variables, correlated with absenteeism. Attendance at clinic appointments and parent-reported teen pain frequency were significant associates of absenteeism in the regression model. For those who completed goal assessment, over 40% of goals identified were academically focused. Absenteeism was positively related to current academic goals and health-related hindrance of academic goals, and negatively related to future-oriented academic goals. Conclusions School absenteeism is a significant problem for adolescents with SCD despite the presence of academic goals. Collaboration between schools, parents, patients, and providers to understand and manage the impact of SCD on school attendance is recommended. PMID:19006248

  2. Factors Associated with Periodontal Disease in Pregnant Diabetic Women.

    Anwar, N; Zaman, N; Nimmi, N; Chowdhury, T A; Khan, M H

    2016-04-01

    There have been an association between systemic diseases and hormonal changes particularly diabetes which has been cited as a risk factor in the progression of periodontitis in pregnant women. The incidence and severity of periodontal diseases are increasing at a higher rate and a common condition in pregnant diabetic women among Bangladeshi population. This cross sectional study included 200 pregnant women who were selected from gynecological department and examined at the dental unit. The clinical parameters used were the Silness and Loe plaque index (PI), gingival scores and periodontal status and any relationship to socio demographic variables (age, occupation, level of education and urban or rural residence) and clinical variables (gestation period, previous pregnancy, type of diabetes and periodontal maintenance) were evaluated. The results showed that these clinical parameters increased concomitantly with an increase in the stage of pregnancy and in women with multiple pregnancies. Increased age, lower level of education, unemployment and patients residing in rural areas were associated with significantly higher gingival scores and periodontal measures. Women with increased age and multiple pregnancies usually have less interest to frequent periodontal maintenance showing a significant statistical relation between an increased age and changes in gingival and periodontal status; however no significant association was found between increased age and plaque index. It is concluded that gingival inflammatory symptoms are aggravated during pregnancy in diabetic women and are related to different clinical and demographic variables.

  3. Association of Helicobacter pylori infection with gastroesophageal reflux disease

    Aswathy Chandramohan

    2016-01-01

    Full Text Available Introduction: The study was conducted to determine the association of Helicobactor pylori with endoscopic and histological parameters of gastroesophageal reflux disease (GERD. Materials and Methods: A cross-sectional study was undertaken. A total of 79 patients were evaluated prospectively in the endoscopic unit of a gastroenterology department for symptoms compatible with GERD. In all cases, routine endoscopy and Los Angeles grading of GERD were performed. In each subject, biopsies were taken from 3 cm above the squamocolumnar junction and from the antrum and assessed histologically. Results: Majority of the patients presented with complaints of heartburn (84.8% and regurgitation (75.9%. Nonerosive reflux disease was present in only five patients. Endoscopically, the remaining 74 cases were graded as follows: 25 had GERD A, 10 had GERD B, 35 had features of Barrett's esophagus, and 4 had miscellaneous findings. H. pylori positivity was present in 33.3% of patients with GERD A and 4.8% of those with GERD B. Majority of the histological parameters such as elongation of lamina propria papillae, intraepithelial inflammatory infiltrate, ballooning degeneration, lack of surface maturation, and dilatation and congestion of lamina propria capillaries did not show statistically significant association with H. pylori. The overall H. pylori prevalence was found to be 26.58% (21/79. Conclusion: On endoscopy, with the increased GERD severity, H. pylori incidence decreased. H. pylori was found to have no significant association with majority of the histological parameters.

  4. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  5. Association between autonomic dysfunction and fatigue in Parkinson disease.

    Chou, Kelvin L; Gilman, Sid; Bohnen, Nicolaas I

    2017-06-15

    Fatigue is a disabling non-motor symptom in Parkinson disease (PD). We investigated the relationship between autonomic dysfunction and fatigue in PD while accounting for possible confounding factors. 29 subjects with PD (8F/21M; mean age 61.6±5.9; mean disease duration 4.8±3.0years), underwent clinical assessment and completed several non-motor symptom questionnaires, including a modified version of the Mayo Clinic Composite Autonomic Symptom Score (COMPASS) scale and the Fatigue Severity Scale (FSS). The mean modified COMPASS was 21.6±14.2 (range 1.7-44.2) and the mean FSS score was 3.3±1.6 (range 1.0-6.7). There was a significant bivariate relationship between the modified COMPASS and FSS scores (R=0.69, P<0.0001). Stepwise regression analysis was used to assess the specificity of the association between the modified COMPASS and FSS scores while accounting for possible confounder effects from other variables that were significantly associated with autonomic dysfunction. Results showed that the modified COMPASS (R 2 =0.52, F=28.4, P<0.0001) was highly associated with fatigue, followed by ESS (R 2 =0.13, F=8.4, P=0.008) but no other co-variates. Post-hoc analysis exploring the association between the different modified COMPASS autonomic sub-domain scores and FSS scores found significant regressor effects for the orthostatic intolerance (R 2 =0.45, F=21.2, P<0.0001) and secretomotor sub-domains (R 2 =0.09, F=4.8, P=0.04) but not for other autonomic sub-domains. Autonomic dysfunction, in particular orthostatic intolerance, is highly associated with fatigue in PD. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Benzene exposure is associated with cardiovascular disease risk.

    Wesley Abplanalp

    Full Text Available Benzene is a ubiquitous, volatile pollutant present at high concentrations in toxins (e.g. tobacco smoke known to increase cardiovascular disease (CVD risk. Despite its prevalence, the cardiovascular effects of benzene have rarely been studied. Hence, we examined whether exposure to benzene is associated with increased CVD risk. The effects of benzene exposure in mice were assessed by direct inhalation, while the effects of benzene exposure in humans was assessed in 210 individuals with mild to high CVD risk by measuring urinary levels of the benzene metabolite trans,trans-muconic acid (t,t-MA. Generalized linear models were used to assess the association between benzene exposure and CVD risk. Mice inhaling volatile benzene had significantly reduced levels of circulating angiogenic cells (Flk-1+/Sca-1+ as well as an increased levels of plasma low-density lipoprotein (LDL compared with control mice breathing filtered air. In the human cohort, urinary levels of t,t-MA were inversely associated several populations of circulating angiogenic cells (CD31+/34+/45+, CD31+/34+/45+/AC133-, CD34+/45+/AC133+. Although t,t-MA was not associated with plasma markers of inflammation or thrombosis, t,t-MA levels were higher in smokers and in individuals with dyslipidemia. In smokers, t,t-MA levels were positively associated with urinary metabolites of nicotine (cotinine and acrolein (3-hydroxymercapturic acid. Levels of t,t-MA were also associated with CVD risk as assessed using the Framingham Risk Score and this association was independent of smoking. Thus, benzene exposure is associated with increased CVD risk and deficits in circulating angiogenic cells in both smokers and non-smokers.

  7. Acrolein exposure is associated with increased cardiovascular disease risk.

    DeJarnett, Natasha; Conklin, Daniel J; Riggs, Daniel W; Myers, John A; O'Toole, Timothy E; Hamzeh, Ihab; Wagner, Stephen; Chugh, Atul; Ramos, Kenneth S; Srivastava, Sanjay; Higdon, Deirdre; Tollerud, David J; DeFilippis, Andrew; Becher, Carrie; Wyatt, Brad; McCracken, James; Abplanalp, Wes; Rai, Shesh N; Ciszewski, Tiffany; Xie, Zhengzhi; Yeager, Ray; Prabhu, Sumanth D; Bhatnagar, Aruni

    2014-08-06

    Acrolein is a reactive aldehyde present in high amounts in coal, wood, paper, and tobacco smoke. It is also generated endogenously by lipid peroxidation and the oxidation of amino acids by myeloperoxidase. In animals, acrolein exposure is associated with the suppression of circulating progenitor cells and increases in thrombosis and atherogenesis. The purpose of this study was to determine whether acrolein exposure in humans is also associated with increased cardiovascular disease (CVD) risk. Acrolein exposure was assessed in 211 participants of the Louisville Healthy Heart Study with moderate to high (CVD) risk by measuring the urinary levels of the major acrolein metabolite-3-hydroxypropylmercapturic acid (3-HPMA). Generalized linear models were used to assess the association between acrolein exposure and parameters of CVD risk, and adjusted for potential demographic confounders. Urinary 3-HPMA levels were higher in smokers than nonsmokers and were positively correlated with urinary cotinine levels. Urinary 3-HPMA levels were inversely related to levels of both early (AC133(+)) and late (AC133(-)) circulating angiogenic cells. In smokers as well as nonsmokers, 3-HPMA levels were positively associated with both increased levels of platelet-leukocyte aggregates and the Framingham Risk Score. No association was observed between 3-HPMA and plasma fibrinogen. Levels of C-reactive protein were associated with 3-HPMA levels in nonsmokers only. Regardless of its source, acrolein exposure is associated with platelet activation and suppression of circulating angiogenic cell levels, as well as increased CVD risk. © 2014 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  8. A Disease-Associated Microbial and Metabolomics State in Relatives of Pediatric Inflammatory Bowel Disease Patients.

    Jacobs, Jonathan P; Goudarzi, Maryam; Singh, Namita; Tong, Maomeng; McHardy, Ian H; Ruegger, Paul; Asadourian, Miro; Moon, Bo-Hyun; Ayson, Allyson; Borneman, James; McGovern, Dermot P B; Fornace, Albert J; Braun, Jonathan; Dubinsky, Marla

    2016-11-01

    Microbes may increase susceptibility to inflammatory bowel disease (IBD) by producing bioactive metabolites that affect immune activity and epithelial function. We undertook a family based study to identify microbial and metabolic features of IBD that may represent a predisease risk state when found in healthy first-degree relatives. Twenty-one families with pediatric IBD were recruited, comprising 26 Crohn's disease patients in clinical remission, 10 ulcerative colitis patients in clinical remission, and 54 healthy siblings/parents. Fecal samples were collected for 16S ribosomal RNA gene sequencing, untargeted liquid chromatography-mass spectrometry metabolomics, and calprotectin measurement. Individuals were grouped into microbial and metabolomics states using Dirichlet multinomial models. Multivariate models were used to identify microbes and metabolites associated with these states. Individuals were classified into 2 microbial community types. One was associated with IBD but irrespective of disease status, had lower microbial diversity, and characteristic shifts in microbial composition including increased Enterobacteriaceae, consistent with dysbiosis. This microbial community type was associated similarly with IBD and reduced microbial diversity in an independent pediatric cohort. Individuals also clustered bioinformatically into 2 subsets with shared fecal metabolomics signatures. One metabotype was associated with IBD and was characterized by increased bile acids, taurine, and tryptophan. The IBD-associated microbial and metabolomics states were highly correlated, suggesting that they represented an integrated ecosystem. Healthy relatives with the IBD-associated microbial community type had an increased incidence of elevated fecal calprotectin. Healthy first-degree relatives can have dysbiosis associated with an altered intestinal metabolome that may signify a predisease microbial susceptibility state or subclinical inflammation. Longitudinal prospective

  9. Challenges associated with peripheral arterial disease in women

    Barochiner J

    2014-03-01

    Full Text Available Jessica Barochiner, Lucas S Aparicio, Gabriel D Waisman Hypertension Section, Internal Medicine Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina Abstract: Peripheral arterial disease (PAD is an increasingly recognized disorder that is associated with functional impairment, quality-of-life deterioration, increased risk of cardiovascular ischemic events, and increased risk of total and cardiovascular mortality. Although earlier studies suggested that PAD was more common in men, recent reports based on more sensitive tests have shown that the prevalence of PAD in women is at least the same as in men, if not higher. PAD tends to present itself asymptomatically or with atypical symptoms more frequently in women than in men, and is associated with comorbidities or situations particularly or exclusively found in the female sex, such as osteoporosis, hypothyroidism, the use of oral contraceptives, and a history of complications during pregnancy. Fat-distribution patterns and differential vascular characteristics in women may influence the interpretation of diagnostic methods, whereas sex-related vulnerability to drugs typically used in subjects with PAD, differences in risk-factor distribution among sexes, and distinct responses to revascularization procedures in men and women must be taken into account for proper disease management. All these issues pose important challenges associated with PAD in women. Of note, this group has classically been underrepresented in research studies. As a consequence, several sex-related challenges regarding diagnosis and management issues should be acknowledged, and research gaps should be addressed in order to successfully deal with this major health issue. Keywords: peripheral arterial disease, women, diagnosis, management

  10. Interspecies dynamics among bacteria associated with canine periodontal disease.

    Sanguansermsri, P; Nobbs, A H; Jenkinson, H F; Surarit, R

    2018-02-01

    The etiology and pathogenic mechanisms associated with canine periodontal disease are less well understood than the disease in humans. In this study we have reconstructed defined consortia biofilms in vitro of microorganisms identified as prevalent in a same-breed cohort of dogs with or without periodontal disease. Frederiksenia canicola and Neisseria canis were selected as potential early colonizers of salivary pellicle, and Fusobacterium nucleatum and Porphyromonas gulae were included as high incidence canine oral bacteria. N. canis formed a biofilm substratum under aerobic conditions, but was unable to tolerate anaerobic conditions. Fr. canicola exhibited synergistic biofilm growth with Po. gulae under anaerobic conditions, but displayed an antagonistic relationship with Fu. nucleatum. However, strong co-adhesion between Fu. nucleatum and Po. gulae was able to overcome the inhibitory effects of Fr. canicola to facilitate three-species biofilm formation. Parvimonas micra, an anaerobic, asaccharolytic Gram-positive coccus found only under disease conditions in vivo, was able to form biofilms in conjunction with Fr. canicola and Po. gulae. Furthermore, the specific proteolytic activities of biofilms containing Fr. canicola and Po. gulae or Fu. nucleatum and Po. gulae were increased several-fold upon the addition of Pa. micra. This suggests that anaerobic cocci such as Pa. micra might provide a catalyst for progressive tissue destruction, inflammation and alveolar bone loss in canine periodontal disease, in keeping with the keystone-pathogen hypothesis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Associations Between Cerebral Small-Vessel Disease and Alzheimer Disease Pathology as Measured by Cerebrospinal Fluid Biomarkers

    Kester, M.I.; Goos, J.D.C.; Teunissen, C.E.; Benedictus, M.R.; Bouwman, F.H.; Wattjes, M.P.; Barkhof, F.; Scheltens, P.; van der Flier, W.M.

    2014-01-01

    IMPORTANCE: It remains unclear if and how associations between cerebral small-vessel disease and Alzheimer disease (AD) pathology lead to cognitive decline and dementia. OBJECTIVE: To determine associations between small-vessel disease and AD pathology. DESIGN, SETTING, AND PARTICIPANTS:

  12. Association between rs6812193 polymorphism and sporadic Parkinson's disease susceptibility.

    Huo, Qiang; Li, Tao; Zhao, Peiqing; Wang, Lianqing

    2015-08-01

    Recently, the association of a single nucleotide polymorphism rs6812193 C/T with sporadic Parkinson's disease (PD) susceptibility has been widely evaluated, but the results remained inconsistent. This association should be clarified because of the importance of it on human health and quality of life. We performed a comprehensive meta-analysis to evaluate the association between the rs6812193 polymorphism and sporadic PD. PubMed was used to retrieve articles published up to June 2014 for all studies evaluating the rs6812193 polymorphism and PD in humans. Ethnicity-specific subgroup analysis was also performed based on ethnicity susceptibility. A total of 17 independent study samples (15 Caucasians and 2 Asians) including 17,956 cases and 52,751 controls were used in the presented study. The MAFT (minor allele T frequency) in PD patients of European descent is obviously higher than Asian cases (p susceptibility among overall samples (OR 0.882, 95 % CI 0.856-0.908) and Caucasian population (OR 0.881, 95 % CI 0.856-0.907), but not in Asian samples (OR 0.918, 95 % CI 0.721-1.168). No evidence of publication bias was observed. Throughout our analysis, the rs6812193 polymorphism is significantly associated with sporadic PD susceptibility in Caucasian samples, and ethnicity might be the key point of inconsistency in rs6812193 studies. Further studies are warranted to re-examine the observed associations, especially in different ethnicities.

  13. Sweet's Syndrome associated with Hodgkin's disease: case report

    Miranda, Carolina Villela da Rocha; Filgueiras, Fernanda de Marca; Obadia, Daniel Lago; Gripp, Alexandre Carlos; Alves, Maria de Fátima Scotelaro Guimarães

    2011-01-01

    A síndrome de Sweet é enfermidade cutânea rara e de etiologia pouco esclarecida. Cerca de 20% dos casos são associados a neoplasias hematológicas, sendo raros os casos relacionados à doença de Hodgkin. Relata-se caso de paciente masculino de 57 anos que desenvolveu a síndrome concomitantemente à neoplasia. As doenças foram controladas com o tratamento específico.Sweet's syndrome is a rare cutaneous disease of unknown etiology. About 20% of the cases are associated with hematological neoplasms...

  14. Probiotics for the treatment of Clostridium difficile associated disease

    Fitzpatrick, Leo R

    2013-01-01

    The purpose of this review paper is to update the current and potential future role of probiotics for Clostridium difficile-associated disease (CDAD). Included in this review, is an update on the testing of newer probiotics (e.g., Bacillus coagulans GBI-30, 6086) in animal models of CDAD. There is a focus on the modulation of signal transduction pathways (i.e., transcription factors like cAMP response element-binding, activator protein 1, and nuclear factor kappa B), as well as the inhibition...

  15. Management of NSAID-associated peptic ulcer disease.

    Melcarne, Luigi; García-Iglesias, Pilar; Calvet, Xavier

    2016-06-01

    Non-steroidal anti-inflammatory drug (NSAID) use increases the risk of gastrointestinal complications such as ulcers or bleeding. The presence of factors like advanced age, history of peptic ulcer, Helicobacter pylori infection and the use of anticoagulants or antiplatelet agents increase this risk further. COX-2 inhibitors and antisecretory drugs, particularly proton pump inhibitors, help to minimize the risk of gastrointestinal complications in high-risk patients. This review presents a practical approach to the prevention and treatment of NSAID-associated peptic ulcer disease and examines the new advances in the rational use of NSAIDs.

  16. Zoonotic diseases associated with reptiles and amphibians: an update.

    Mitchell, Mark A

    2011-09-01

    Reptiles and amphibians are popular as pets. There are increased concerns among public health officials because of the zoonotic potential associated with these animals. Encounters with reptiles and amphibians are also on the rise in the laboratory setting and with wild animals; in both of these practices, there is also an increased likelihood for exposure to zoonotic pathogens. It is important that veterinarians remain current with the literature as it relates to emerging and reemerging zoonotic diseases attributed to reptiles and amphibians so that they can protect themselves, their staff, and their clients from potential problems.

  17. Association between thoracic aortic disease and inguinal hernia.

    Olsson, Christian; Eriksson, Per; Franco-Cereceda, Anders

    2014-08-21

    The study hypothesis was that thoracic aortic disease (TAD) is associated with a higher-than-expected prevalence of inguinal hernia. Such an association has been reported for abdominal aortic aneurysm (AAA) and hernia. Unlike AAA, TAD is not necessarily detectable with clinical examination or ultrasound, and there are no population-based screening programs for TAD. Therefore, conditions associated with TAD, such as inguinal hernia, are of particular clinical relevance. The prevalence of inguinal hernia in subjects with TAD was determined from nation-wide register data and compared to a non-TAD group (patients with isolated aortic stenosis). Groups were balanced using propensity score matching. Multivariable statistical analysis (logistic regression) was performed to identify variables independently associated with hernia. Hernia prevalence was 110 of 750 (15%) in subjects with TAD versus 29 of 301 (9.6%) in non-TAD, P=0.03. This statistically significant difference remained after propensity score matching: 21 of 159 (13%) in TAD versus 14 of 159 (8.9%) in non-TAD, PTAD, OR 1.8 (1.1 to 2.8), P=0.015. The prevalence of inguinal hernia (15%) in TAD is higher than expected in a general population and higher in TAD, compared to non-TAD. TAD is independently associated with hernia in multivariable analysis. Presence or history of hernia may be of importance in detecting TAD, and the association warrants further study. © 2014 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  18. Gastroesophageal reflux disease: recent advances and its association with sleep.

    Oh, Jung Hwan

    2016-09-01

    Gastroesophageal reflux disease (GERD) is prevalent in Asia as well as in Western countries. Sleep disturbance and breathing disorders during sleep are becoming increasingly prevalent, and they are commonly associated with GERD. The relationship between GERD and obstructive sleep apnea (OSA) is still questionable, and it has expanded to include Barrett's esophagus. Nocturnal gastroesophageal reflux (nGER) symptoms might be clinically important in the explanation of this association. The therapy for reflux symptoms has resulted in improved subjective sleep parameters and enhanced sleep quality, thus supporting a direct relationship between GERD and sleep disturbance. This review discusses the epidemiology of sleep disturbances in GERD patients; the causative relationship between GERD and OSA, even though it remains an area of controversy; and the possible role of nGER in sleep problems. It also provides an update on the current state of knowledge linking GERD and sleep. © 2016 New York Academy of Sciences.

  19. [Repetitive impulse-associated behavioral disorders in Parkinson's disease].

    Katzenschlager, R; Goerlich, K S; van Eimeren, T

    2012-12-01

    Parkinson's disease (PD) is associated with a number of behavioral disorders which may cause considerable social, professional or financial problems. Impulse control disorders (ICDs), such as pathological gambling, binge eating, compulsive shopping and hypersexuality occur in approximately 13-14% of PD patients. Further behavioral disorders are the dopamine dysregulation syndrome (DDS), a substance dependence characterized by craving for dopaminergic substances and punding (prolonged repetitive activities which are not goal-oriented).Treatment-related risk factors are dopamine agonists for ICDs and a high total dopaminergic dose for DDS and punding. Shared risk factors are young age at onset, impulsive personality traits, depression and possibly dyskinesia. At the neuronal level these behavioral disorders seem to be associated with changes in the reward system and dysfunction of the orbitofrontal cortex. The evidence level for management strategies is at present insufficient. For ICDs current clinical practice consists of discontinuation or reduction of dopamine agonists.

  20. Association Between Atopic Disease and Anemia in US Children.

    Drury, Kerry E; Schaeffer, Matt; Silverberg, Jonathan I

    2016-01-01

    Atopic disease is associated with chronic inflammation, food allergen avoidance, and use of systemic immunosuppressant medications. All these factors have been shown to be associated with anemia. To investigate whether atopic disease is associated with increased risk of childhood anemia. A cross-sectional survey and laboratory assessment were conducted using data from the 1997-2013 US National Health Interview Survey (NHIS) that included 207,007 children and adolescents and the 1999-2012 National Health and Nutrition Examination Survey (NHANES) that included 30,673 children and adolescents. Analysis of the data was conducted between August 1, 2014, and August 28, 2015. Caregiver-reported history of eczema, asthma, hay fever, and/or food allergy. Anemia was defined by caregiver report in the NHIS and by hemoglobin levels for age and sex in the NHANES. Data were collected on 207,007 children and adolescents from NHIS, representing all pediatric age, sex, racial/ethnic, household educational level, and income groups. The US prevalence was 9.5% (95% CI, 9.4%-9.7%) from all years of the NHIS for health care-diagnosed eczema, 12.8% (95% CI, 12.6%-13.0%) for asthma, 17.1% (95% CI, 16.9%-17.3%) for hay fever, 4.2% (95% CI, 4.1%-4.3%) for food allergy, and 1.1% (95% CI, 1.1%-1.2%) for anemia. In multivariable logistic regression models controlling for age, sex, race/ethnicity, annual household income, highest educational level in the family, insurance coverage, number of persons in the household, birthplace in the United States, and history of asthma, hay fever, and food allergy, anemia was associated with eczema in 14 of 17 studies, asthma in 11, hay fever in 12, and food allergy in 12. In multivariable analysis across the NHIS (with results reported as adjusted odds ratios [95% CIs]), children with any eczema (1.83; 1.58-2.13), asthma (1.31; 1.14-1.51), hay fever (1.57; 1.36-1.81), and food allergy (2.08; 1.71-2.52) had higher odds of anemia (P < .001 for all). In the

  1. Effective Diagnosis of Alzheimer's Disease by Means of Association Rules

    Chaves, R.; Ramírez, J.; Górriz, J. M.; López, M.; Salas-Gonzalez, D.; Illán, I.; Segovia, F.; Padilla, P.

    In this paper we present a novel classification method of SPECT images for the early diagnosis of the Alzheimer's disease (AD). The proposed method is based on Association Rules (ARs) aiming to discover interesting associations between attributes contained in the database. The system uses firstly voxel-as-features (VAF) and Activation Estimation (AE) to find tridimensional activated brain regions of interest (ROIs) for each patient. These ROIs act as inputs to secondly mining ARs between activated blocks for controls, with a specified minimum support and minimum confidence. ARs are mined in supervised mode, using information previously extracted from the most discriminant rules for centering interest in the relevant brain areas, reducing the computational requirement of the system. Finally classification process is performed depending on the number of previously mined rules verified by each subject, yielding an up to 95.87% classification accuracy, thus outperforming recent developed methods for AD diagnosis.

  2. Association of Endodontic Lesions with Coronary Artery Disease.

    Liljestrand, J M; Mäntylä, P; Paju, S; Buhlin, K; Kopra, K A E; Persson, G R; Hernandez, M; Nieminen, M S; Sinisalo, J; Tjäderhane, L; Pussinen, P J

    2016-11-01

    An endodontic lesion (EL) is a common manifestation of endodontic infection where Porphyromonas endodontalis is frequently encountered. EL may associate with increased risk for coronary artery disease (CAD) via similar pathways as marginal periodontitis. The aim of this cross-sectional study was to delineate the associations between EL and CAD. Subgingival P. endodontalis, its immune response, and serum lipopolysaccharide were examined as potential mediators between these 2 diseases. The Finnish Parogene study consists of 508 patients (mean age, 62 y) who underwent coronary angiography and extensive clinical and radiographic oral examination. The cardiovascular outcomes included no significant CAD ( n = 123), stable CAD ( n = 184), and acute coronary syndrome (ACS; n = 169). EL was determined from a panoramic tomography. We combined data of widened periapical spaces (WPSs) and apical rarefactions to a score of EL: 1, no EL ( n = 210); 2, ≥1 WPS per 1 apical rarefaction ( n = 222); 3, ≥2 apical rarefactions ( n = 76). Subgingival P. endodontalis was defined by checkerboard DNA-DNA hybridization analysis, and corresponding serum antibodies were determined by ELISA. In our population, 50.4% had WPSs, and 22.8% apical rarefactions. A total of 51.2% of all teeth with apical rarefactions had received endodontic procedures. Subgingival P. endodontalis levels and serum immunoglobulin G were associated with a higher EL score. In the multiadjusted model (age, sex, smoking, diabetes, body mass index, alveolar bone loss, and number of teeth), having WPSs associated with stable CAD (odds ratio [OR] = 1.94, 95% confidence interval [95% CI] = 1.13 to 3.32, P = 0.016) and highest EL score were associated with ACS (OR = 2.46, 95% CI = 1.09 to 5.54, P = 0.030). This association was especially notable in subjects with untreated teeth with apical rarefactions ( n = 59, OR = 2.72, 95% CI = 1.16 to 6.40, P = 0.022). Our findings support the hypothesis that ELs are independently

  3. Yellow fever vaccine-associated neurological disease, a suspicious case.

    Beirão, Pedro; Pereira, Patrícia; Nunes, Andreia; Antunes, Pedro

    2017-03-02

    A 70-year-old man with known cardiovascular risk factors, presented with acute onset expression aphasia, agraphia, dyscalculia, right-left disorientation and finger agnosia, without fever or meningeal signs. Stroke was thought to be the cause, but cerebrovascular disease investigation was negative. Interviewing the family revealed he had undergone yellow fever vaccination 18 days before. Lumbar puncture revealed mild protein elevation. Cultural examinations, Coxiella burnetti, and neurotropic virus serologies were negative. Regarding the yellow fever virus, IgG was identified in serum and cerebrospinal fluid (CSF), with negative IgM and virus PCR in CSF. EEG showed an encephalopathic pattern. The patient improved gradually and a week after discharge was his usual self. Only criteria for suspect neurotropic disease were met, but it's possible the time spent between symptom onset and lumbar puncture prevented a definite diagnosis of yellow fever vaccine-associated neurological disease. This gap would have been smaller if the vaccination history had been collected earlier. 2017 BMJ Publishing Group Ltd.

  4. Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

    Taurisano, Roberta; Maiorana, Arianna; De Benedetti, Fabrizio; Dionisi-Vici, Carlo; Boldrini, Renata; Deodato, Federica

    2014-10-01

    The lysosomal acid lipase (LAL) is the enzyme responsible of the hydrolysis of cholesteryl esters and triglycerides within endo-lysosomes. Loss of enzyme activity leads to accumulation of cholesteryl esters and triglycerides in the lysosome of most tissues. The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition which may be genetically determined or secondary to infections, malignancies, immune deficiencies, and rheumatologic disorders. So far, some inborn errors of metabolism have been associated with HLH (e.g., lysinuric protein intolerance, Gaucher's disease), and it has been anecdotally described in three WD patients, without any specific pathogenetic hypothesis. Here, we report on a WD patient, showing clear clinical, biochemical, and histological features indicative of HLH. We discuss the pathophysiological role of cholesteryl ester-induced inflammasome activation in macrophages, leading to a secondary HLH. This case indicates that WD can cause secondary HLH and suggests that a careful metabolic workup should be performed when facing to a pediatric patient with HLH.

  5. The association of serum leptin levels with metabolic diseases

    Jen-Pi Tsai

    2017-01-01

    Full Text Available Leptin is a 167-amino-acid protein released by white adipose tissue and encoded by the obese gene. It has a role as a negative regulator of appetite control through sending a satiety signal to act on receptors within the hypothalamus. At normal levels, leptin can exert its effects on weight regulation according to white fat mass, induce sodium excretion, maintain vascular tone, and repair the myocardium. Beyond these effects, elevated serum leptin levels have been implicated in the pathogenesis of metabolic syndrome, diabetes mellitus, hypertension, and multiple cardiovascular diseases. In addition, hyperleptinemia had been reported to contribute to renal diseases through multiple mechanisms resulting in glomerulopathy presenting with a decreased glomerular filtration rate, increased albuminuria, and related clinical symptoms, which are pathophysiological features of chronic kidney disease. Because these cardiovascular and metabolic disorders are great challenges for physicians, understanding the related pathophysiological association with leptin might become a valuable aid in handling patients in daily clinical practice. This review will discuss the roles of leptin in the regulation of biological functions of multiple organs beyond the maintenance of feeding and metabolism.

  6. Spasmodic dysphonia: description of the disease and associated neurologic disorders

    Coelho, Marina Serrato

    2010-06-01

    Full Text Available Introduction: Spasmodic dysphonia (SD is a problem that affects speech and vocalization, one of the most devastating disorders of oral communication. It is characterized by vocal quality tensaestrangulada, harshly and / or interspersed with abrupt vocal attack and a great tension in the vocal tract. The etiology of spasmodic dysphonia is unclear. Some authors point to psychogenic causes, neurological or even unknown. Objective: To assess the prevalence of muscular dystonias and other neurological symptoms in patients with ED. Method: A retrospective study of 10 cases with diagnosis of ED for symptoms and neurological disorders associated. Results: There was a significant predominance of the disease in females (9:1. The average age of onset of symptoms was 32 years, ranging between 14 and 60 years. The mean disease duration was 10 years. Among the patients, 87.5% had a diagnosis of disorders of movement made by a neurologist, including orofacial dystonias (50%, essential tremor (50% and spastic paraparesis (12%. Conclusion: The presence of movement disorders followed almost all cases of spasmodic dysphonia. More studies are needed to clarify the pathophysiological basis of disease.

  7. Sleep Disorders Associated With Alzheimer's Disease: A Perspective

    Anna Brzecka

    2018-05-01

    Full Text Available Sleep disturbances, as well as sleep-wake rhythm disturbances, are typical symptoms of Alzheimer's disease (AD that may precede the other clinical signs of this neurodegenerative disease. Here, we describe clinical features of sleep disorders in AD and the relation between sleep disorders and both cognitive impairment and poor prognosis of the disease. There are difficulties of the diagnosis of sleep disorders based on sleep questionnaires, polysomnography or actigraphy in the AD patients. Typical disturbances of the neurophysiological sleep architecture in the course of the AD include deep sleep and paradoxical sleep deprivation. Among sleep disorders occurring in patients with AD, the most frequent disorders are sleep breathing disorders and restless legs syndrome. Sleep disorders may influence circadian fluctuations of the concentrations of amyloid-β in the interstitial brain fluid and in the cerebrovascular fluid related to the glymphatic brain system and production of the amyloid-β. There is accumulating evidence suggesting that disordered sleep contributes to cognitive decline and the development of AD pathology. In this mini-review, we highlight and discuss the association between sleep disorders and AD.

  8. Diverticular disease and colon cancer: a real association between the two diseases?

    Del Rio, Paolo; Rossini, Matteo; Papadia, Cinzia; Lorenzo, Viani; Labonia, Domenico; Sianesi, Mario

    2014-01-01

    During the last century the incidence of diverticular disease (DD), as well as the prevalence of colonic adenocarcinoma (ADK), recorded a marked increase in Western populations. In literature has been reported a higher incidence of sigmoid colon carcinoma associated with diverticular disease suggesting a possible sharing of risk factors and pathogens between these two pathologies. We prospectively examined 165 patients undergoing left colonic resection from May 2010 to December 2012 at the operating unit of General Surgery and Organ Transplantation of University Hospital of Parma , dividing them into three groups: affected by left colon cancer (120 cases), affected by complicated diverticular disease (29 cases) and affected by both diseases (16 cases). In this last group the indication for surgery has always been oncology based. All cases have been subjected to a 6 months minimum follow-up. The average age of patients operated for colonic ADK was 69.91 years. The average age of patients operated for ADK and concomitant DD, compared to that of patients treated for single DD, was statistically higher (73.8 ± 6.89 VS 60.9 ± 13.5, p = 0.004). It was found instead a higher diverticular inflammation degree in patients treated for DD compared with those treated for ADK associated with DD. No patient with ADK associated with DD showed hepatic metastases, whereas among patients with just ADK, peritoneal carcinomatosis was recorded in 2.6% of cases and liver metastases, always synchronous, in 11 .5%. The lymph nodes positivity instead, has presented a prevalence of 33.5% in patients with ADK and of 7% in patients with associated DD. In our study and its comparison with literature we found in synthesis multiple clinical evidences of a possible association between the two diseases. The role played by DD would lead to an early diagnosis of colonic ADK. It remains to be analyzed however the possible etiopathogenetic correlation over time between the two clinical entities

  9. Parental anxiety associated with Kawasaki disease in previously healthy children.

    Chahal, Nita; Clarizia, Nadia A; McCrindle, Brian W; Boydell, Katherine M; Obadia, Maya; Manlhiot, Cedric; Dillenburg, Rejane; Yeung, Rae S M

    2010-01-01

    The objective of this study was to explore the lived experience of parents of children diagnosed with Kawasaki disease (KD) and to identify factors associated with increased levels of parental anxiety. Three focus groups were conducted including 25 parents of 17 patients with KD, seven (41%) of whom had coronary artery complications. A conceptual model was developed to depict parental experiences and illustrate the key issues related to heightened anxiety. Themes identified included anxiety related to the child's sudden illness and delay in obtaining a correct diagnosis because of the lack of health care providers' awareness and knowledge regarding KD. Parents were frustrated by the lack of information available in lay language and the limited scientific knowledge regarding the long-term consequences of the disease. Parents also reported positive transformations and different perspective toward challenges in life. However, the parents of children with coronary artery complications expressed persistent anxiety even years after the acute phase of the illness due to the uncertainty of the long-term prognosis. There remains a critical need for richly textured research data on the perspective and experience of families of children with KD. Copyright 2010 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

  10. Skin diseases associated with Agent Orange and other organochlorine exposures.

    Patterson, Andrew T; Kaffenberger, Benjamin H; Keller, Richard A; Elston, Dirk M

    2016-01-01

    Organochlorine exposure is an important cause of cutaneous and systemic toxicity. Exposure has been associated with industrial accidents, intentional poisoning, and the use of defoliants, such as Agent Orange in the Vietnam War. Although long-term health effects are systematically reviewed by the Institute of Medicine, skin diseases are not comprehensively assessed. This represents an important practice gap as patients can present with cutaneous findings. This article provides a systematic review of the cutaneous manifestations of known mass organochlorine exposures in military and industrial settings with the goal of providing clinically useful recommendations for dermatologists seeing patients inquiring about organochlorine effects. Patients with a new diagnosis of chloracne, porphyria cutanea tarda, cutaneous lymphomas (non-Hodgkin lymphoma), and soft-tissue sarcomas including dermatofibrosarcoma protuberans and leiomyosarcomas should be screened for a history of Vietnam service or industrial exposure. Inconclusive evidence exists for an increased risk of other skin diseases in Vietnam veterans exposed to Agent Orange including benign fatty tumors, melanomas, nonmelanoma skin cancers, milia, eczema, dyschromias, disturbance of skin sensation, and rashes not otherwise specified. Affected veterans should be informed of the uncertain data in those cases. Referral to Department of Veterans Affairs for disability assessment is indicated for conditions with established associations. Copyright © 2015 American Academy of Dermatology, Inc. All rights reserved.

  11. Associations between peripheral vertigo and gastroesophageal reflux disease.

    Viliušytė, Edita; Macaitytė, Raminta; Vaitkus, Antanas; Rastenytė, Daiva

    2015-09-01

    We hypothesize that peripheral vertigo is associated with gastroesophageal reflux disease (GERD). Two mechanisms could be considered – gastric acids may directly irritate the respiratory mucosa and cause inflammation, or Helicobacter pylori (H. pylori) could be present and cause local infection. Reflux material (Hydrochloric acid (HCl) and pepsin) could get into the middle ear via Eustachian tube and affect osseous structures directly. Disturbance of ossicles could cause tinnitus, which is more common for peripheral vertigo. H. pylori could also get in the esophagus and in the upper respiratory tract via gastroesophageal reflux, and could cause tympanosclerosis and fixation of ossicles. In our study group, 120 of 153 (78.4%) patients had gastroesophageal reflux disease (GERD). Diagnostic tests of H. pylori (rapid urease test or blood antibody test) were performed for 96 of 120 (80%) patients with GERD and were found positive for 32 of 96 (33.3%) patients. Peripheral vertigo was present in 93 of 120 (77.6%) patients with GERD compared to 33 of 126 (26%) patients without GERD (χ(2)=9.016, p=0.003). H. pylori and peripheral vertigo coexisted in 26 of 126 patients (20.6%) (OR 1.36; 95% CI 0.49-3.74, p=0.55). Our study demonstrated statistically significant association between peripheral vertigo and GERD but not between peripheral vertigo and H. pylori. Further more extensive investigations are needed in order to explore our hypothesis. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. End Stage and Chronic Kidney Disease: Associations with Renal Cancer

    Russo, Paul

    2012-01-01

    There is a well known association between end stage renal disease and the development of kidney cancer in the native kidney of patients requiring renal replacement therapy. There is now emerging evidence that lesser degrees of renal insufficiency (chronic kidney disease, CKD) are also associated with an increased likelihood of cancer in general and kidney cancer in particular. Nephropathological changes are commonly observed in the non-tumor bearing portions of kidney resected at the time of partial and radical nephrectomy (RN). In addition, patients with renal cancer are more likely to have CKD at the time of diagnosis and treatment than the general population. The exact mechanism by which renal insufficiency transforms normal kidney cells into tumor cells is not known. Possible mechanisms include uremic immune inhibition or increased exposure to circulating toxins not adequately cleared by the kidneys. Surgeons managing kidney tumors must have an increased awareness of their patient’s renal functional status as they plan their resection. Kidney sparing approaches, including partial nephrectomy (PN) or active surveillance in older and morbidly ill patients, can prevent CKD or delay the further decline in renal function which is well documented with RN. Despite emerging evidence that PN provides equivalent local tumor control to RN while at the same time preventing CKD, this operation remains under utilized in the United States and abroad. Increased awareness of the bi directional relationship between kidney function and kidney cancer is essential in the contemporary management of kidney cancer.

  13. [The association of lung cancer and atheromatous arterial disease].

    Lamour, A; Azorin, J; Tchandjou Ngoko, L E; Valeyre, D; Morère, F; Destable, M D; de Saint-Florent, G

    1989-01-01

    This work is based on the retrospective study of the case history of 26 patients who were treated between September 1979 and January 1987 in the department of thoracic and vascular surgery at the Avicenne Hospital--and who were all suffering from both lung cancer and atheromatous arterial disease. It is now well established by all the epidemiologic research that the link between lung cancer and atheromatous arterial disease is smoking tobacco. The risks involved in the misunderstanding of such an association are not without danger for the patient, particularly the risk of severe complication of possible coronary or carotid lesions, threatening survival; from this derives the necessity to decide automatically for a minimum of pre-surgery vascular investigations in the case of patients suffering from lung cancer. The therapeutic strategy in this association must be thorough, considering that there are three priorities in the vascular field which must absolutely be treated before the lung itself: --the coronary and carotid lesions which are likely to be complicated cancer after surgery and any state of emergency in the other vascular territories. The fight against tobacco smoking must also be considered as a priority aim.

  14. Peripheral neuropathy associated with mitochondrial disease in children.

    Menezes, Manoj P; Ouvrier, Robert A

    2012-05-01

    Mitochondrial diseases in children are often associated with a peripheral neuropathy but the presence of the neuropathy is under-recognized because of the overwhelming involvement of the central nervous system (CNS). These mitochondrial neuropathies are heterogeneous in their clinical, neurophysiological, and histopathological characteristics. In this article, we provide a comprehensive review of childhood mitochondrial neuropathy. Early recognition of neuropathy may help with the identification of the mitochondrial syndrome. While it is not definite that the characteristics of the neuropathy would help in directing genetic testing without the requirement for invasive skin, muscle or liver biopsies, there appears to be some evidence for this hypothesis in Leigh syndrome, in which nuclear SURF1 mutations cause a demyelinating neuropathy and mitochondrial DNA MTATP6 mutations cause an axonal neuropathy. POLG1 mutations, especially when associated with late-onset phenotypes, appear to cause a predominantly sensory neuropathy with prominent ataxia. The identification of the peripheral neuropathy also helps to target genetic testing in the mitochondrial optic neuropathies. Although often subclinical, the peripheral neuropathy may occasionally be symptomatic and cause significant disability. Where it is symptomatic, recognition of the neuropathy will help the early institution of rehabilitative therapy. We therefore suggest that nerve conduction studies should be a part of the early evaluation of children with suspected mitochondrial disease. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  15. Chronic obstructive pulmonary disease severity is associated with severe pneumonia

    Jung Seop Eom

    2015-01-01

    Full Text Available CONTEXT: Chronic obstructive pulmonary disease (COPD is a heterogeneous disorder, and various aspects of COPD may be associated with the severity of pneumonia in such patients. AIMS: We examined the risk factors associated with severe pneumonia in a COPD population. MATERIALS AND METHODS: We performed a retrospective observational study using a prospectively collected database of pneumonia patients who were admitted to our hospital through emergency department between 2008 and 2012. Patients with hospital-acquired pneumonia and those with an immunocompromised status were excluded. RESULTS: Of 148 pneumonia patients with COPD for whom chest computed tomography (CT scans were available, 106 (71.6% and 42 (28.4% were classified as non-severe and severe pneumonia, respectively. Multivariate logistic regression analysis revealed that the severity of airflow limitation [odds ratio (OR, 2.751; 95% confidence interval (CI, 1.074-7.050; P = 0.035] and the presence of emphysema on a chest CT scan (OR, 3.366; 95% CI, 1.104-10.265; P = 0.033 were independently associated with severe pneumonia in patients with COPD. CONCLUSIONS: The severity of COPD including the airflow limitation grade and the presence of pulmonary emphysema were independently associated with the development of severe pneumonia.

  16. Epstein-Barr Virus Association with Peptic Ulcer Disease

    María G. Cárdenas-Mondragón

    2015-01-01

    Full Text Available Background. Helicobacter pylori (HP infection and nonsteroidal anti-inflammatory drugs (NSAID use are considered the main risk to develop peptic ulcer disease (PUD. However, PUD also occurs in the absence of HP infection and/or NSAID use. Recently, we have found evidence that Epstein-Barr virus (EBV reactivation increases the risk to develop premalignant and malignant gastric lesions. Objective. To study a possible association between EBV and PUD. Methods. Antibodies against an EBV reactivation antigen, HP, and the HP virulence factor CagA were measured in sera from 207 Mexican subjects, controls (healthy individuals, n = 129, and PUD patients (n = 78, 58 duodenal and 20 gastric ulcers. Statistical associations were estimated. Results. Duodenal PUD was significantly associated with high anti-EBV IgG titers (p = 0.022, OR = 2.5, while anti-EBV IgA was positively associated with gastric PUD (p = 0.002, OR = 10.1. Conclusions. Our study suggests that EBV reactivation in gastric and duodenal epithelium increases the risk to develop PUD.

  17. Genetic Association of , and - with Behcet's Disease in Saudi Patients

    Fahda Al-Okaily

    2016-01-01

    Full Text Available Background HLA-B*51 has been universally associated with Behcet's disease (BD susceptibility, while different alleles of HLA-A have also been identified as independent BD susceptibility loci in various ethnic populations. The objective of this study was to investigate associations of HLA-A and - B alleles with BD in Saudi patients. Materials and Methods Genotyping for HLA-A and HLA-B was performed using HLA genotyping kit (Lab type (R SSO in 120 Saudi subjects, including 60 BD patients and 60 matched healthy controls. Results Our results revealed that frequencies of HLA-A*26, -A*31 , and - B*51 were significantly higher in BD patients than in controls, suggesting that HLA-A*26, -A*31 , and - B*51 are associated with BD. The frequency of HLA-B*15 was significantly lower in BD patients than in controls. Stratification of genotyping results into active and nonactive forms of BD revealed that the frequency of HLA-A*31 was significantly higher in the nonactive form than in the active form of BD, while there was no significant difference in the distribution of other alleles between the two forms of BD. Conclusion This study suggests that HLA-A*26, -A*31 , and - B*51 are associated with susceptibility risk to BD, while HLA-B*15 may be protective in Saudi patients. However, larger scale studies are needed to confirm these findings.

  18. Genetic variants of CD209 associated with Kawasaki disease susceptibility.

    Ho-Chang Kuo

    Full Text Available BACKGROUND: Kawasaki disease (KD is a systemic vasculitis with unknown etiology mainly affecting children in Asian countries. Dendritic cell-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN, CD209 in humans was showed to trigger an anti-inflammatory cascade and associated with KD susceptibility. This study was conducted to investigate the association between genetic polymorphisms of CD209 and the risk KD. METHODS: A total of 948 subjects (381 KD and 567 controls were recruited. Nine tagging SNPs (rs8112310, rs4804800, rs11465421, rs1544766, rs4804801, rs2287886, rs735239, rs735240, rs4804804 were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL and intravenous immunoglobulin (IVIG treatment outcomes were collected for analysis. RESULTS: Significant associations were found between CD209 polymorphisms (rs4804800, rs2287886, rs735240 and the risk of KD. Haplotype analysis for CD209 polymorphisms showed that A/A/G haplotype (P = 0.0002, OR = 1.61 and G/A/G haplotype (P = 0.0365, OR = 1.52 had higher risk of KD as compared with G/G/A haplotype in rs2287886/rs735239/rs735240 pairwise allele analysis. There were no significant association in KD with regards to CAL formation and IVIG treatment responses. CONCLUSION: CD209 polymorphisms were responsible for the susceptibility of KD, but not CAL formation and IVIG treatment responsiveness.

  19. Genetic Variants of CD209 Associated with Kawasaki Disease Susceptibility

    Kuo, Ho-Chang; Huang, Ying-Hsien; Chien, Shu-Chen; Yu, Hong-Ren; Hsieh, Kai-Sheng; Hsu, Yu-Wen; Chang, Wei-Chiao

    2014-01-01

    Background Kawasaki disease (KD) is a systemic vasculitis with unknown etiology mainly affecting children in Asian countries. Dendritic cell-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN, CD209) in humans was showed to trigger an anti-inflammatory cascade and associated with KD susceptibility. This study was conducted to investigate the association between genetic polymorphisms of CD209 and the risk KD. Methods A total of 948 subjects (381 KD and 567 controls) were recruited. Nine tagging SNPs (rs8112310, rs4804800, rs11465421, rs1544766, rs4804801, rs2287886, rs735239, rs735240, rs4804804) were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL) and intravenous immunoglobulin (IVIG) treatment outcomes were collected for analysis. Results Significant associations were found between CD209 polymorphisms (rs4804800, rs2287886, rs735240) and the risk of KD. Haplotype analysis for CD209 polymorphisms showed that A/A/G haplotype (P = 0.0002, OR = 1.61) and G/A/G haplotype (P = 0.0365, OR = 1.52) had higher risk of KD as compared with G/G/A haplotype in rs2287886/rs735239/rs735240 pairwise allele analysis. There were no significant association in KD with regards to CAL formation and IVIG treatment responses. Conclusion CD209 polymorphisms were responsible for the susceptibility of KD, but not CAL formation and IVIG treatment responsiveness. PMID:25148534

  20. Prediction of Associations between OMIM Diseases and MicroRNAs by Random Walk on OMIM Disease Similarity Network

    Hailin Chen

    2013-01-01

    Full Text Available Increasing evidence has revealed that microRNAs (miRNAs play important roles in the development and progression of human diseases. However, efforts made to uncover OMIM disease-miRNA associations are lacking and the majority of diseases in the OMIM database are not associated with any miRNA. Therefore, there is a strong incentive to develop computational methods to detect potential OMIM disease-miRNA associations. In this paper, random walk on OMIM disease similarity network is applied to predict potential OMIM disease-miRNA associations under the assumption that functionally related miRNAs are often associated with phenotypically similar diseases. Our method makes full use of global disease similarity values. We tested our method on 1226 known OMIM disease-miRNA associations in the framework of leave-one-out cross-validation and achieved an area under the ROC curve of 71.42%. Excellent performance enables us to predict a number of new potential OMIM disease-miRNA associations and the newly predicted associations are publicly released to facilitate future studies. Some predicted associations with high ranks were manually checked and were confirmed from the publicly available databases, which was a strong evidence for the practical relevance of our method.

  1. Association between environmental exposure to pesticides and neurodegenerative diseases

    Parron, Tesifon [University of Almeria, Department of Neurosciences and Health Sciences, Almeria (Spain); Andalusian Council of Health at Almeria province, Almeria (Spain); Requena, Mar [Andalusian Council of Health at Almeria province, Almeria (Spain); Hernandez, Antonio F., E-mail: ajerez@ugr.es [University of Granada School of Medicine, Granada (Spain); Alarcon, Raquel [Andalusian Council of Health at Almeria province, Almeria (Spain)

    2011-11-15

    Preliminary studies have shown associations between chronic pesticide exposure in occupational settings and neurological disorders. However, data on the effects of long-term non-occupational exposures are too sparse to allow any conclusions. This study examines the influence of environmental pesticide exposure on a number of neuropsychiatric conditions and discusses their underlying pathologic mechanisms. An ecological study was conducted using averaged prevalence rates of Alzheimer's disease, Parkinson's disease, multiple sclerosis, cerebral degeneration, polyneuropathies, affective psychosis and suicide attempts in selected Andalusian health districts categorized into areas of high and low environmental pesticide exposure based on the number of hectares devoted to intensive agriculture and pesticide sales per capita. A total of 17,429 cases were collected from computerized hospital records (minimum dataset) between 1998 and 2005. Prevalence rates and the risk of having Alzheimer's disease, Parkinson's disease, multiple sclerosis and suicide were significantly higher in districts with greater pesticide use as compared to those with lower pesticide use. The multivariate analyses showed that the population living in areas with high pesticide use had an increased risk for Alzheimer's disease and suicide attempts and that males living in these areas had increased risks for polyneuropathies, affective disorders and suicide attempts. In conclusion, this study supports and extends previous findings and provides an indication that environmental exposure to pesticides may affect the human health by increasing the incidence of certain neurological disorders at the level of the general population. -- Highlights: Black-Right-Pointing-Pointer Environmental exposure to pesticides and neurodegenerative-psychiatric disorders. Black-Right-Pointing-Pointer Increased risk for Alzheimer's disease and suicide attempts in high exposure areas. Black

  2. Is recurrent respiratory infection associated with allergic respiratory disease?

    de Oliveira, Tiago Bittencourt; Klering, Everton Andrei; da Veiga, Ana Beatriz Gorini

    2018-03-13

    Respiratory infections cause high morbidity and mortality worldwide. This study aims to estimate the relationship between allergic respiratory diseases with the occurrence of recurrent respiratory infection (RRI) in children and adolescents. The International Study of Asthma and Allergies in Childhood questionnaire and a questionnaire that provides data on the history of respiratory infections and the use of antibiotics were used to obtain data from patients. The relationship between the presence of asthma or allergic rhinitis and the occurrence of respiratory infections in childhood was analyzed. We interviewed the caregivers of 531 children aged 0 to 15 years. The average age of participants was 7.43 years, with females accounting for 52.2%. This study found significant relationship between: presence of asthma or allergic rhinitis with RRI, with prevalence ratio (PR) of 2.47 (1.51-4.02) and 1.61 (1.34-1.93), respectively; respiratory allergies with use of antibiotics for respiratory problems, with PR of 5.32 (2.17-13.0) for asthma and of 1.64 (1.29-2.09) for allergic rhinitis; asthma and allergic rhinitis with diseases of the lower respiratory airways, with PR of 7.82 (4.63-13.21) and 1.65 (1.38-1.96), respectively. In contrast, no relationship between upper respiratory airway diseases and asthma and allergic rhinitis was observed, with PR of 0.71 (0.35-1.48) and 1.30 (0.87-1.95), respectively. RRI is associated with previous atopic diseases, and these conditions should be considered when treating children.

  3. Pulmonary hypertension associated with left-sided heart disease.

    Maeder, Micha Tobias; Schoch, Otto D; Kleiner, Rebekka; Joerg, Lucas; Weilenmann, Daniel; Swiss Society For Pulmonary Hypertension

    2017-01-19

    Pulmonary hypertension associated with left-sided heart disease (PH-LHD) is the most common type of pulmonary hypertension. In patients with left-sided heart disease, the presence of pulmonary hypertension is typically a marker of more advanced disease, more severe symptoms, and worse prognosis. In contrast to pulmonary arterial hypertension, PH-LHD is characterised by an elevated pulmonary artery wedge pressure (postcapillary pulmonary hypertension) without or with an additional precapillary component (isolated postcapillary versus combined postcapillary and precapillary pulmonary hypertension). Transthoracic echocardiography is the primary nonin-vasive imaging tool to estimate the probability of pulmonary hypertension and to establish a working diagnosis on the mechanism of pulmonary hyperten-sion. However, right heart catheterisation is always required if significant pulmonary hypertension is sus-pected and exact knowledge of the haemodynamic constellation is necessary. The haemodynamic con-stellation (mean pulmonary artery pressure, mean pulmonary artery wedge pressure, left ventricular end-diastolic pressure) in combination with clinical infor-mation and imaging findings (mainly echocardiog-raphy, coronary angiography and cardiac magnetic resonance imaging) will usually allow the exact mech-anism underlying PH-LHD to be defined, which is a prerequisite for appropriate treatment. The general principle for the management of PH-LHD is to treat the underlying left-sided heart disease in an optimal man-ner using drugs and/or interventional or surgical ther-apy. There is currently no established indication for pulmonary arterial hypertension-specific therapies in PH-LHD, and specific therapies may even cause harm in patients with PH-LHD.

  4. Glomerular diseases associated with HBV and HCV infection

    Boriana Kiperova

    2014-03-01

    Full Text Available Hepatitis B and C viruses are human pathogens of major significance. Their extrahepatic manifestations are global health problem. HBV is a well-known cause of membranous nephropathy, membranoproliferative GN and IgA nephropathy, frequently in Asian populations. Polyarteritis nodosa is a rare, but serious systemic complication of chronic HBV. Immunosuppressive therapy in HBV-related GN is not recommended. Interferon alpha treatment produces sustained remission of porteinuria, often associated with clearance of HBeAg and/or HBsAg, however, it has many side effects. Compared to interferon, nucleos(tide analogues offer some advantages. These antiviral agents suppress HBV replication through their inhibitory effect on viral DNA polymerase. They have convenient administration and high tolerability. Lamivudine is well tolerated and safe in long-term studies, but the resistance of HBV is an escalating problem. The resistance to newer polymerase inhibitors Entecavir and Tenofovir is significantly lower. Hepatitis C virus causes cryoglobulinemia-mediated glomerulonephritis and other immune complex forms of GN. The renal manifestations are usually associated with long-lasting HCV infection. HCV glomerular disease is more frequent in adult males, and often leads to chronic renal insufficiency. The first line treatment in patients with mild to moderate clinical and histological kidney damage is the antiviral therapy with pegylated INF alpha and ribavirin. In case of severe HCV-associated cryoglobulinemic GN - nephrotic syndrome, nephritic syndrome and/or progressive renal failure, high activity score of glomerulonephritis on light microscopy, the initial treatment might consist of sequential administration of antiviral and immunosuppressive agents (corticosteroids, cyclophosphamide and plasma exchange, or rituximab. The treatment of HCV-related glomerular disease is still under debate and based on scant experimental evidence. Large randomized and controlled

  5. Association between osteoporosis and periodontal disease among postmenopausal Indian women.

    Richa; R, Yashoda; Puranik, Manjunath P; Shrivastava, Amit

    2017-08-01

    The aim of the present study was to determine the association between osteoporosis and periodontal disease among postmenopausal Indian women. A cross-sectional comparative study was conducted among postmenopausal women aged 45-65 years attending various hospitals in Bangalore, India. The examination was performed using the plaque index, gingival index, modified sulcus bleeding index, and community periodontal index. The women then underwent a bone mineral density (BMD) test using an ultrasonometer. Based on the BMD scores, participants were divided into osteoporotic and non-osteoporotic groups. For the statistical analysis, χ 2 -test, Student's t-test, and multiple regression analysis were applied. The mean plaque, gingival, and bleeding scores were significantly higher among osteoporotic women (1.83 ± 0.47, 1.73 ± 0.49, 1.82 ± 0.52) compared to the non-osteoporotic women (1.31 ± 0.40, 1.09 ± 0.52, 1.25 ± 0.50). The mean number of sextants affected for codes 3 and 4 of the community periodontal index and codes 1, 2, and 3 of loss of attachment were significantly higher among osteoporotic group compared to the non-osteoporotic group. Multiple logistic regression tests confirmed the statistically-significant association between osteoporosis and menopause duration, loss of attachment, bleeding, and gingivitis scores. Skeletal BMD is related to clinical attachment loss, bleeding, and gingivitis, which suggests that there is an association between osteoporosis and periodontal diseases. © 2016 John Wiley & Sons Australia, Ltd.

  6. High prevalence of overweight and obesity in adults with Crohn's disease: associations with disease and lifestyle factors.

    Nic Suibhne, Treasa

    2013-08-01

    Obesity and overweight are major public health issues. Although traditionally associated with weight loss, there is now evidence that increasing Body Mass Index (BMI) and overweight are emerging features of Crohn\\'s disease (CD) and may be associated with more severe disease course. The aim of the study was to determine the prevalence of overweight and obesity in patients with CD compared with matched healthy controls and to identify disease-specific and generic factors associated with current BMI in this group.

  7. Association of polycystic ovary syndrome and Graves′ disease: Is autoimmunity the link between the two diseases

    Sobia Nisar

    2012-01-01

    Full Text Available Introduction: Polycystic ovary syndrome (PCOS is a common endocrinopathy of women of child-bearing age. Although some studies have suggested an association between PCOS and autoimmune thyroiditis, to our knowledge, only a few cases indicating association between PCOS and Graves′ disease are reported. Objective: We aim to describe this first case series of six women presenting with PCOS and Graves′ disease together. Materials and Methods: Women attending the endocrinology clinic at a tertiary care centre in north India and fulfilling the AE-PCOS criteria for diagnosis of PCOS were studied using a predefined proforma for any clinical, biochemical and imaging features of Graves′ disease. Results: The series consisted of six women with a mean age of 27.5 years and menarche as 12.6 years. All women were lean with mean BMI of 22.73 kg / m 2 and three out of six had waist circumference <80 cm. The mean FG score of subjects was 16.66 and average total testosterone was 77.02 ng / dl (25.0-119.64. All the patients had suppressed TSH, the average being 0.052 μIU/ml (0.01-0.15. Thyroid gland was enlarged in all clinically and on ultrasonography and imaging with 99m Tc and/or RAIU revealed diffuse increased uptake. Conclusions: The association of a rare disorder like Graves′ disease with a relatively common disorder like PCOS is unlikely to be because of a chance alone and may point to a common aetiopathogenic linkage leaving a scope for molecular characterization.

  8. Association Between Periodontal Disease and Erectile Dysfunction: A Systematic Review.

    Kellesarian, Sergio Varela; Kellesarian, Tammy Varela; Ros Malignaggi, Vanessa; Al-Askar, Mansour; Ghanem, Alexis; Malmstrom, Hans; Javed, Fawad

    2018-03-01

    A limited number of studies have reported an association between erectile dysfunction (ED) and chronic periodontitis (CP). The aim of the present study is to assess the association between CP and ED through a systematic review of published literature. To address the focused question, "Is there a relationship between ED and CP?" indexed databases were searched till December 2015 using various key words "erectile dysfunction," "periodontal disease," "periodontitis," "dental infection," and "impotence." Letters to the editor, commentaries, historic reviews, and experimental studies were excluded. The pattern of the present systematic review was customized to primarily summarize the pertinent data. Nine studies were included. Seven studies had a cross-sectional design and two studies were randomized control trials. The number of study participants ranged between 53 and 513,258 individuals with age ranging between 20 years and 85 years (median age ranging between 34.9 ± 4.9 years and 50.9 ± 16.6 years). In all studies, a positive relationship between CP and ED was reported. In four studies, odds ratio were reported, ranging between 1.53 and 3.35. From the literature reviewed, there seems to be a positive association between ED and CP; however, further well-designed controlled clinical trials are needed in this regard. It is emphasized that physicians should refer patients with ED to oral health care providers for a comprehensive oral evaluation and treatment.

  9. Association studies in common endocrine diseases (review article

    Akrami SM

    2007-05-01

    Full Text Available Our understanding of the pathogenesis of endocrine disorders increase rapidly by genetic studies at the molecular level. Common endocrine disorders such as diabetes mellitus, obesity, osteoporosis, dyslipidemia and cancer follow the multifactorial model in the genetic aspect. This review tries to clarify the approach in molecular studies of such diseases for clinicians in different specialties. How to evaluate a possible association between a single nucleotide polymorphism and an endocrinopathy or its complication is the main concern of this review. Two approaches for gene mapping will be discussed as well as main challenges regarding each approach. All such genetic studies ideally include some test of the association between genome sequence variation and the phenotype of interest such as the trait itself, the presence of a given complication, or measures of some endocrinopathy-related intermediate trait. Despite different advances in this analysis, there are major concerns regarding the overall performance and robustness of genetic association studies. By using powerful new high-throughput methods, further insights to molecular basis of such endocrine disorders can be expected. Close correlation between geneticists and clinicians can effectively bridge between basic sciences and clinical investigations.

  10. Neural Inductive Matrix Completion for Predicting Disease-Gene Associations

    Hou, Siqing

    2018-01-01

    Previous methods use disease features only from mining text. Comparing to text mining, disease ontology is a more informative way of discovering correlation of dis- eases, from which we can calculate the similarities between diseases and help

  11. Association between maternal periodontal disease and preterm delivery and low birth weight

    Yen-Li Wang

    2013-03-01

    Conclusion: After appropriately controlling for confounding variables, our results do not support the hypothesis of an association that was observed in previous studies of maternal periodontal disease and infant PB, but the association between periodontal disease and LBW is significant.

  12. Orbital lymphoma associated with Graves’ disease: A case report

    Hajduković Zoran

    2014-01-01

    Full Text Available Introduction. The presence of bilateral exophthalmos and palpebral, periorbital edema associated with hyperthyroidism is most often considered as an initial sign of Graves’ ophthalmopathy. However, in up to 20% of cases, Graves’ ophthalmopathy might precede the occurrence of hyperthyroidism, which is very important to be considered in the differential diagnosis, especially if it is stated as unilateral. Among other less common causes of non-thyroid-related orbitopathy, orbital lymphoma represents rare conditions. We presented of a patient with Graves’ disease, initially manifested as bilateral orbitopathy and progressive unilateral exophthalmos caused by the marginal zone B-cell non-Hodgkin lymphoma of the orbit. Case report. A 64-yearold man with the 3-year history of bilateral Graves’ orbitopathy and hyperthyroidism underwent the left orbital decompression surgery due to the predominantly left, unilateral worsening of exophthalmos resistant to the previously applied glucocorticoid therapy. A year after the surgical treatment, a substantial exophthalmos of the left eye was again observed, signifying that other non-thyroid pathology could be involved. Orbital ultrasound was suggestive of primary orbital lymphoma, what was confirmed by orbital CT scan and the biopsy of the tumor tissue. Detailed examinations indicated that the marginal zone B-cell non-Hodgkin lymphoma extended to IV - B-b CS, IPI 3 (bone marrow infiltration: m+ orbit+. Upon the completion of the polychemiotherapy and the radiation treatment, a complete remission of the disease was achieved. Conclusion. Even when elements clearly indicate the presence of thyroid-related ophthalmopathy, disease deteriorating should raise a suspicion and always lead to imaging procedures to exclude malignancy.

  13. Depressive symptoms associated with hereditary Alzheimer's disease: a case description.

    Contreras, Mónica Yicette Sánchez; Vargas, Paula Alejandra Osorio; Ramos, Lucero Rengifo; Velandia, Rafael Alarcón

    The authors describe a family group studied by the Centro de Biología Molecular y Biotecnología, and the Clínica de la Memoria, las Demencias y el Envejecimiento (Universidad Tecnológica de Pereira, Colombia), and evaluate the association of depressive symptoms with Alzheimer's disease (AD). This family presented a hereditary pattern for AD characterized by an early onset of dementia symptoms, a long preclinical depressive course, and, once the first symptoms of dementia appeared, a rapid progression to severe cognitive function impairment. The authors found a high prevalence of depressive symptoms in this family and propose that the symptoms could be an important risk factor for developing AD in the presence of other risk factors such as the APOE E4 allele.

  14. Bone quality changes associated with aging and disease: a review.

    Boskey, Adele L; Imbert, Laurianne

    2017-12-01

    Bone quality encompasses all the characteristics of bone that, in addition to density, contribute to its resistance to fracture. In this review, we consider changes in architecture, porosity, and composition, including collagen structure, mineral composition, and crystal size. These factors all are known to vary with tissue and animal ages, and health status. Bone morphology and presence of microcracks, which also contribute to bone quality, will not be discussed in this review. Correlations with mechanical performance for collagen cross-linking, crystallinity, and carbonate content are contrasted with mineral content. Age-dependent changes in humans and rodents are discussed in relation to rodent models of disease. Examples are osteoporosis, osteomalacia, osteogenesis imperfecta (OI), and osteopetrosis in both humans and animal models. Each of these conditions, along with aging, is associated with increased fracture risk for distinct reasons. © 2017 New York Academy of Sciences.

  15. A new ophiovirus is associated with blueberry mosaic disease.

    Thekke-Veetil, Thanuja; Ho, Thien; Keller, Karen E; Martin, Robert R; Tzanetakis, Ioannis E

    2014-08-30

    Blueberry mosaic disease (BMD) was first described more than 60 years ago and is caused by a yet unidentified graft transmissible agent. A combination of traditional methods and next generation sequencing disclosed the presence of a new ophiovirus in symptomatic plants. The virus was detected in all BMD samples collected from several production areas of North America and was thus named blueberry mosaic associated virus. Phylogenetic analysis, supported by high bootstrap values, places the virus within the family Ophioviridae. The genome organization resembles that of citrus psorosis virus, the type member of the genus Ophiovirus. The implications of this discovery in BMD control and blueberry virus certification schemes are also discussed. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. Regulation of vesicular trafficking by Parkinson's disease-associated genes

    Tsuyoshi Inoshita

    2015-10-01

    Full Text Available The regulatory mechanisms that control intracellular vesicular trafficking play important roles in cellular function and viability. Neurons have specific vesicular trafficking systems for synaptic vesicle formation, release and recycling. Synaptic vesicular trafficking impairments induce neuronal dysfunction and physiological and behavioral disorders. Parkinson's disease (PD is an age-dependent neurodegenerative disorder characterized by dopamine depletion and loss of dopamine neurons in the midbrain. The molecular mechanism responsible for the neurodegeneration that occurs during PD is still not understood; however, recent functional analyses of familial PD causative genes suggest that a number of PD causative genes regulate intracellular vesicular trafficking, including synaptic vesicular dynamics. This review focuses on recent insights regarding the functions of PD causative genes, their relationship with vesicular trafficking and how mutations associated with PD affect vesicular dynamics and neuronal survival.

  17. Vaccine preventable viral diseases and risks associated with waterborne transmission

    Franco Maria Ruggeri

    2012-12-01

    Full Text Available Rotavirus and poliovirus are paradigmatic viruses for causing major diseases affecting the human population. The impact of poliovirus is remarkably diminished because of vaccination during the last half century. Poliomyelitis due to wild polio currently affects a limited number of countries, and since 2000 sporadic outbreaks have been associated to neurovirulent vaccine-derived polioviruses. Conversely, rotavirus is presently very diffuse, accounting for the largest fraction of severe gastroenteritis among children <5 years-old. Vaccination towards rotavirus is still in its dawn, and zoonotic strains contribute to the emergence and evolution of novel strains pathogenic to man. The environment, particularly surface water, is a possible vehicle for large transmission of both viruses, but environmental surveillance of circulating strains can help promptly monitor entry of new virulent strains into a country, their shedding and spread.

  18. Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

    Alrukban H

    2018-04-01

    Full Text Available Hadeel Alrukban,1 David Chitayat1,2 1Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; 2Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto, Toronto, ON, Canada Abstract: Chondrodysplasia punctata (CDP is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010. This review lists the clinical characteristics and radiologic findings of all cases reported to date in English and discuss the possible etiology of this interesting fetal finding. Keywords: stippled epiphyses, peroxisomal disorders, vitamin K, chromosome abnormalities, intrauterine growth restriction epiphysis, growth plate

  19. Familial associations between polycystic ovarian syndrome and common diseases.

    Moini, Ashraf; Eslami, Bita

    2009-03-01

    The goal of this study was focused on two subjects. First, to determine possible association between PCOS and family history of breast cancer, ovarian cancer, endometrial cancer, heart attack, thrombosis, diabetes and cardiovascular disease (CVD). Second, to evaluate maternal and paternal transmission in PCOS patients with positive family history of a disease. A cross-sectional study was conducted in 549 infertile women (273 with PCOS and 276 controls) in Arash hospital of Tehran, Iran, between 2007 and 2008 by using questionnaire. In this analysis, there were significantly increased number of women with the positive family history of diabetes among PCOS group (28.21% vs. 19.20%, p=0.01). Meanwhile, four women in PCOS group had self history of diabetes while no one in the control group reported diabetes. A statistically significant positive family history of breast cancer was found among the control group (4.35% vs. 1.30%, p=0.02). Endometrial cancer and diabetes were observed in mother or mother's side of the family but heart attack and thrombosis manifested in father or father's side of the family more. There were no statistically significant differences in a positive individual or family history of ovarian cancer, endometrial cancer, heart attack, thrombosis and CVD between the two groups. In the present study, women and their relatives with PCOS had an increased prevalence of diabetes and it is more common in mother's side of the family.

  20. Salivary microbiota and metabolome associated with celiac disease.

    Francavilla, Ruggiero; Ercolini, Danilo; Piccolo, Maria; Vannini, Lucia; Siragusa, Sonya; De Filippis, Francesca; De Pasquale, Ilaria; Di Cagno, Raffaella; Di Toma, Michele; Gozzi, Giorgia; Serrazanetti, Diana I; De Angelis, Maria; Gobbetti, Marco

    2014-06-01

    This study aimed to investigate the salivary microbiota and metabolome of 13 children with celiac disease (CD) under a gluten-free diet (treated celiac disease [T-CD]). The same number of healthy children (HC) was used as controls. The salivary microbiota was analyzed by an integrated approach using culture-dependent and -independent methods. Metabolome analysis was carried out by gas chromatography-mass spectrometry-solid-phase microextraction. Compared to HC, the number of some cultivable bacterial groups (e.g., total anaerobes) significantly (P endodontalis, and Prevotella nanceiensis), together with the smallest amount of Actinobacteria. T-CD children were also characterized by decreased levels of some Actinomyces species, Atopobium species, and Corynebacterium durum. Rothia mucilaginosa was the only Actinobacteria species found at the highest level in T-CD children. As shown by multivariate statistical analyses, the levels of organic volatile compounds markedly differentiated T-CD children. Some compounds (e.g., ethyl-acetate, nonanal, and 2-hexanone) were found to be associated with T-CD children. Correlations (false discovery rate [FDR], oral dysbiosis that could affect the oral metabolome.

  1. Vascular disease and risk factors are associated with cognitive decline in the alzheimer disease spectrum.

    Lorius, Natacha; Locascio, Joseph J; Rentz, Dorene M; Johnson, Keith A; Sperling, Reisa A; Viswanathan, Anand; Marshall, Gad A

    2015-01-01

    We investigated the relationship between vascular disease and risk factors versus cognitive decline cross-sectionally and longitudinally in normal older control, mild cognitive impairment, and mild Alzheimer disease (AD) dementia subjects. A total of 812 participants (229 normal older control, 395 mild cognitive impairment, 188 AD) underwent cognitive testing, brain magnetic resonance imaging, and clinical evaluations at baseline and over a period of 3 years. General linear, longitudinal mixed-effects, and Cox proportional hazards models were used. Greater homocysteine level and white matter hyperintensity volume were associated with processing speed impairment (homocysteine: P=0.02; white matter hyperintensity: Prisk factors with cognitive impairment at baseline and over time in the AD spectrum in a sample that was selected to have low vascular burden at baseline.

  2. Association between sleep bruxism and gastroesophageal reflux disease.

    Mengatto, Cristiane Machado; Dalberto, Charlene da Silveira; Scheeren, Betina; Barros, Sérgio Gabriel Silva de

    2013-11-01

    Rhythmic masticatory muscle activity, including sleep bruxism (SB), can be induced in healthy individuals by experimental esophageal acidification, which plays an important role in the pathogenesis of gastroesophageal reflux disease (GERD). However, no robust evidence supports the association between SB and GERD. The purpose of this study was to investigate the association between SB and GERD. Forty-five individuals were eligible to participate in this observational transversal study at the Gastroenterology Service of the Clinical Hospital of Porto Alegre, Brazil. The participants were classified into 2 groups, those with and without GERD, according to the Montreal Criteria and pH-metry/endoscopy findings. The diagnosis of SB was not assessed in a sleep laboratory but was based on self-report plus clinical inspection, according to the minimal diagnostic criteria of the American Academy of Sleep Medicine. The Lipp Stress Symptom Inventory was used to evaluate self-perceived stress. Univariate and multiple logistic regression analyses were performed with SB as dependent variable and GERD, sex, age, body mass index, and stress as predictors (α=.05; 90% power). The study population included individuals with SB without GERD (13.3%) and individuals with SB with GERD (31.1%). In participants with GERD, the prevalence of SB was 73.7%. Only the variable GERD was significantly associated with SB (P=.017; odds ratio 6.58; 95% confidence interval 1.40-30.98), although adjusted for stress and age. Sleep bruxism is prevalent in GERD patients, and GERD is highly associated with SB. Copyright © 2013 Editorial Council for the Journal of Prosthetic Dentistry. Published by Mosby, Inc. All rights reserved.

  3. The association between chronic kidney disease and cardiovascular disease risk factors in atomic bomb survivors.

    Sera, Nobuko; Hida, Ayumi; Imaizumi, Misa; Nakashima, Eiji; Akahoshi, Masazumi

    2013-01-01

    Atomic bomb (A-bomb) radiation is associated with cardiovascular disease (CVD) and metabolic CVD risk factors. Chronic kidney disease (CKD) is also known to be a risk factor for CVD and little is known whether CKD is associated with A-bomb radiation. To examine whether CKD is associated with CVD risk factors or with A-bomb radiation in A-bomb survivors, we classified renal dysfunction in 1,040 A-bomb survivors who were examined in 2004-2007 as normal [n = 121; estimated glomerular filtration rate (eGFR) ≥ 90 ml/min/1.73 m(2)]; mild (n = 686; eGFR 60-89 ml/min/1.73 m(2)); moderate (n = 217; eGFR 30-59 ml/min/1.73 m(2)); or severe (n = 16; eGFR bomb radiation. Hypertension [odds ratio (OR), 1.57; 95% confidence interval (CI), 1.12-2.20, P = 0.009]; DM (OR, 1.79; 95% CI, 1.23-2.61, P = 0.002); hyperlipidemia (OR, 1.55; 95% CI, 1.12-2.14, P = 0.008); and MetS (OR, 1.86; 95% CI, 1.32-2.63, P bomb survivors.

  4. Grave's Disease and Primary Biliary Cirrhosis—An Unusual and Challenging Association

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2013-01-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial.

  5. Grave's Disease and Primary Biliary Cirrhosis-An Unusual and Challenging Association.

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2014-03-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial.

  6. Disease-associated prion protein detected in lymphoid tissues from pigs challenged with the agent of chronic wasting disease

    Aims: Chronic wasting disease (CWD) is a naturally-occurring, fatal neurodegenerative disease of cervids. We previously demonstrated that disease-associated prion protein (PrPSc) can be detected in the brain and retina from pigs challenged intracranially or orally with the CWD agent. In that study,...

  7. Apolipoprotein E genotypes associated with Alzheimer disease and concomitant stroke.

    Fekih-Mrissa, Najiba; Klai, Sarra; Mrad, Meriem; Mansour, Malek; Zaouali, Jamel; Gritli, Nasreddine; Mrissa, Ridha

    2014-04-01

    The ɛ4 allele of the apolipoprotein E (APOE) gene is a well-characterized genetic risk factor for Alzheimer disease (AD). The association between stroke and a higher risk for AD has also been reported. Our study sought to determine the relationship between the APOE gene and AD and the comorbid risk of stroke. The subjects of this study consisted of 48 patients with AD and 48 members of a control group. All subjects were genotyped for APOE. The results clearly show a significant increased risk of AD in carriers of the APOE ε3/ε4 genotype (P = .003, odds ratio [OR] = 4.1) or ε4 allele (P = .001, OR = 4.2). The risk for stroke in AD patients was also increased for carriers of the APOE ε3/ε4 genotype (P = .02, OR = 9.0) and for carriers of the APOE ε4 allele (P = .004, OR = 5.5). The present study is the first to establish a relationship between APOE ε4 and concomitant AD and stroke in the Tunisian population. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  8. Genetic diversity of disease-associated loci in Turkish population.

    Karaca, Sefayet; Cesuroglu, Tomris; Karaca, Mehmet; Erge, Sema; Polimanti, Renato

    2015-04-01

    Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-related traits of the Turkish population, we analyzed 34 genes associated with different health-related traits (for example, lipid metabolism, cardio-vascular diseases, hormone metabolism, cellular detoxification, aging and energy metabolism). We observed relevant differences between the Turkish population and populations with non-European ancestries (that is, Africa and East Asia) in some of the investigated genes (that is, AGT, APOE, CYP1B1, GNB3, IL10, IL6, LIPC and PON1). As most complex traits are highly polygenic, we developed polygenic scores associated with different health-related traits to explore the genetic diversity of the Turkish population with respect to other human groups. This approach showed significant differences between the Turkish population and populations with non-European ancestries, as well as between Turkish and Northern European individuals. This last finding is in agreement with the genetic structure of European and Middle East populations, and may also agree with epidemiological evidences about the health disparities of Turkish communities in Northern European countries.

  9. Interstitial lung disease associated with human papillomavirus vaccination

    Yasushi Yamamoto

    2015-01-01

    Full Text Available Vaccinations against the human papillomavirus (HPV have been recommended for the prevention of cervical cancer. HPV-16/18 AS04-adjuvanted vaccines (Cervarix are said to have favourable safety profiles. Interstitial lung diseases (ILDs can occur following exposure to a drug or a biological agent. We report a case of ILD associated with a Cervarix vaccination. A woman in her 40's, with a history of conisation, received three inoculations of Cervarix. Three months later, she presented with a cough and shortness of breath. Findings from a computed tomography of the chest and a transbronchial lung biopsy were consistent with non-specific interstitial pneumonia. Workup eliminated all other causes of the ILD, except for the vaccination. Over the 11 months of the follow-up period, her symptoms resolved without steroid therapy. The onset and spontaneous resolution of the ILD showed a chronological association with the HPV vaccination. The semi-quantitative algorithm revealed that the likelihood of an adverse drug reaction to Cervarix was “Probable”. The outcome was relatively good, but more attention should be paid to a potential risk for HPV vaccinations to cause ILDs. Wherever possible, chest radiographic examinations should be performed in order not to overlook any ILDs.

  10. Urinary NGAL marks cystic disease in HIV-associated nephropathy.

    Paragas, Neal; Nickolas, Thomas L; Wyatt, Christina; Forster, Catherine S; Sise, Meghan; Morgello, Susan; Jagla, Bernd; Buchen, Charles; Stella, Peter; Sanna-Cherchi, Simone; Carnevali, Maria Luisa; Mattei, Silvia; Bovino, Achiropita; Argentiero, Lucia; Magnano, Andrea; Devarajan, Prasad; Schmidt-Ott, Kai M; Allegri, Landino; Klotman, Paul; D'Agati, Vivette; Gharavi, Ali G; Barasch, Jonathan

    2009-08-01

    Nephrosis and a rapid decline in kidney function characterize HIV-associated nephropathy (HIVAN). Histologically, HIVAN is a collapsing focal segmental glomerulosclerosis with prominent tubular damage. We explored the expression of neutrophil gelatinase-associated lipocalin (NGAL), a marker of tubular injury, to determine whether this protein has the potential to aid in the noninvasive diagnosis of HIVAN. We found that expression of urinary NGAL was much higher in patients with biopsy-proven HIVAN than in HIV-positive and HIV-negative patients with other forms of chronic kidney disease. In the HIV-transgenic mouse model of HIVAN, NGAL mRNA was abundant in dilated, microcystic segments of the nephron. In contrast, urinary NGAL did not correlate with proteinuria in human or in mouse models. These data show that marked upregulation of NGAL accompanies HIVAN and support further study of uNGAL levels in large cohorts to aid in the noninvasive diagnosis of HIVAN and screen for HIVAN-related tubular damage.

  11. Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia

    José Guevara-Campos

    2015-02-01

    Full Text Available Autism spectrum disorder (ASD with intellectual disability (ID is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objective of this report is to describe the clinical features of patients with these comorbidities in order to shed light on difficult diagnostic and therapeutic approaches in such patients. We reported the different clinical features of children with ID associated with hyperlactacidemia and deficiencies in mitochondrial respiratory chain complex II–IV activity whose clinical presentations are commonly associated with the classic spectrum of mitochondrial diseases. We concluded that patients with ASD and ID presenting with persistent hyperlactacidemia should be evaluated for mitochondrial disorders. Administration of carnitine, coenzyme Q10, and folic acid is partially beneficial, although more studies are needed to assess the efficacy of this vitamin/cofactor treatment combination.

  12. Association of chronic kidney disease with muscle deficits in children.

    Foster, Bethany J; Kalkwarf, Heidi J; Shults, Justine; Zemel, Babette S; Wetzsteon, Rachel J; Thayu, Meena; Foerster, Debbie L; Leonard, Mary B

    2011-02-01

    The effect of chronic kidney disease (CKD) on muscle mass in children, independent of poor growth and delayed maturation, is not well understood. We sought to characterize whole body and regional lean mass (LM) and fat mass (FM) in children and adolescents with CKD and to identify correlates of LM deficits in CKD. We estimated LM and FM from dual energy x-ray absorptiometry scans in 143 children with CKD and 958 controls at two pediatric centers. We expressed whole body, trunk, and leg values of LM and FM as Z-scores relative to height, sitting height, and leg length, respectively, using the controls as the reference. We used multivariable regression models to compare Z-scores in CKD and controls, adjusted for age and maturation, and to identify correlates of LM Z-scores in CKD. Greater CKD severity associated with greater leg LM deficits. Compared with controls, leg LM Z-scores were similar in CKD stages 2 to 3 (difference: 0.02 [95% CI: -0.20, 0.24]; P = 0.8), but were lower in CKD stages 4 to 5 (-0.41 [-0.66, -0.15]; P = 0.002) and dialysis (-1.03 [-1.33, -0.74]; P normal leg FM, compared with controls. In conclusion, advanced CKD associates with significant deficits in leg lean mass, indicating skeletal muscle wasting. These data call for prospective studies of interventions to improve muscle mass among children with CKD.

  13. Exonic variants associated with development of aspirin exacerbated respiratory diseases.

    Seung-Woo Shin

    Full Text Available Aspirin-exacerbated respiratory disease (AERD is one phenotype of asthma, often occurring in the form of a severe and sudden attack. Due to the time-consuming nature and difficulty of oral aspirin challenge (OAC for AERD diagnosis, non-invasive biomarkers have been sought. The aim of this study was to identify AERD-associated exonic SNPs and examine the diagnostic potential of a combination of these candidate SNPs to predict AERD. DNA from 165 AERD patients, 397 subjects with aspirin-tolerant asthma (ATA, and 398 normal controls were subjected to an Exome BeadChip assay containing 240K SNPs. 1,023 models (210-1 were generated from combinations of the top 10 SNPs, selected by the p-values in association with AERD. The area under the curve (AUC of the receiver operating characteristic (ROC curves was calculated for each model. SNP Function Portal and PolyPhen-2 were used to validate the functional significance of candidate SNPs. An exonic SNP, exm537513 in HLA-DPB1, showed the lowest p-value (p = 3.40×10-8 in its association with AERD risk. From the top 10 SNPs, a combination model of 7 SNPs (exm537513, exm83523, exm1884673, exm538564, exm2264237, exm396794, and exm791954 showed the best AUC of 0.75 (asymptotic p-value of 7.94×10-21, with 34% sensitivity and 93% specificity to discriminate AERD from ATA. Amino acid changes due to exm83523 in CHIA were predicted to be "probably damaging" to the structure and function of the protein, with a high score of '1'. A combination model of seven SNPs may provide a useful, non-invasive genetic marker combination for predicting AERD.

  14. Associative reinstatement memory measures hippocampal function in Parkinson's Disease.

    Cohn, Melanie; Giannoylis, Irene; De Belder, Maya; Saint-Cyr, Jean A; McAndrews, Mary Pat

    2016-09-01

    In Parkinson's Disease (PD), hippocampal atrophy is associated with rapid cognitive decline. Hippocampal function is typically assessed using memory tests but current clinical tools (e.g., free recall) also rely on executive functions or use material that is not optimally engaging hippocampal memory networks. Because of the ubiquity of executive dysfunction in PD, our ability to detect true memory deficits is suboptimal. Our previous behavioural and neuroimaging work in other populations suggests that an experimental memory task - Associative Reinstatement Memory (ARM) - may prove useful in investigating hippocampal function in PD. In this study, we investigated whether ARM is compromised in PD and we assessed its convergent and divergent validity by comparing it to standardized measures of memory and of attention and executive functioning in PD, respectively. Using fMRI, we also investigated whether performance in PD relates to degree of hippocampal engagement. Fifteen participants with PD and 13 age-matched healthy controls completed neuropsychological testing as well as an ARM fMRI recognition paradigm in which they were instructed to identify word pairs comprised of two studied words (intact or rearranged pairs) and those containing at least one new word (new or half new pairs). ARM is measured by the differences in hit rates between intact and rearranged pairs. Behaviourally, ARM was poorer in PD relative to controls and was correlated with verbal memory measures, but not with attention or executive functioning in the PD group. Hippocampal activation associated with ARM was reduced in PD relative to controls and covaried with ARM scores in both groups. To conclude, ARM is a sensitive measure of hippocampal memory function that is unaffected by attention or executive dysfunction in PD. Our study highlights the benefit of integrating cognitive neuroscience frameworks and novel experimental tasks to improve the practice of clinical neuropsychology in PD

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

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

    2014-08-01

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

  16. Monomeric neutrophil gelatinase associated lipocalin is associated with tubulointerstitial damage in chronic kidney disease

    Nickolas, Thomas L.; Forster, Catherine; Sise, Meghan E.; Barasch, Nicholas; Valle, David Solá-Del; Viltard, Melanie; Buchen, Charles; Kupferman, Shlomo; Carnevali, Maria Luisa; Bennett, Michael; Mattei, Silvia; Bovino, Achiropita; Argentiero, Lucia; Magnano, Andrea; Devarajan, Prasad; Mori, Kiyoshi; Erdjument-Bromage, Hediye; Tempst, Paul; Allegri, Landino; Barasch, Jonathan

    2012-01-01

    The rate of progression of chronic kidney disease (CKD) is difficult to predict using single measurements of serum creatinine or proteinuria. On the other hand, documented tubulointerstitial disease presages worsening CKD, but kidney biopsy is not practical for routine use and generally does not sample the tubulointerstitial compartment of the medulla. Perhaps a urine test that correlates with specific histological findings may serve as a surrogate for the kidney biopsy. Here we compared both immunoblot analysis (under non-reducing conditions) and a commercially available monomer immunoassays of Neutrophil Gelatinase Associated Lipocalin (NGAL) with pathological changes found in kidney biopsies, to determine whether specific histological characteristics associated with a specific NGAL species. We found that the urine of patients with advanced CKD contained NGAL monomers as well as higher molecular weight complexes containing NGAL, identified by MALDI-TOF/TOF mass spectroscopy. The NGAL monomer significantly correlated with glomerular filtration rate, interstitial fibrosis and tubular atrophy. Hence, specific assays of the NGAL monomer implicate histology associated with progressive, severe CKD. PMID:22695331

  17. PET/CT in sarcoidosis associated with oncological disease

    Bianco, C.; Servente, L.; Valuntas, L.; García Fontes, L.; Engler, H.

    2017-01-01

    Purposes: To describe the radiological findings of sarcoidosis or sarcoid-like reactions in cancer patients being monitored by positron emission computed tomography (PET/CT). Materials and methods: A retrospective analysis was performed on 18 PET/CT studies performed over 3 years in patients with lymphomas and solid tumours who presented with hypermetabolic hiliar-mediastinal adenopathies. The morphological pattern of these adenopathies, the distribution, and in some cases the association with pulmonary nodules, might suggest sarcoidosis as a differential diagnosis. Results: Oncological diseases corresponded to breast (4), prostate (3), ovary (2), and others (9). The adenopathies were classified in 7 of the 18 patients as benign after histological confirmation of sarcoidosis, anthracosis or sarcoid-like reaction. The evolutionary behaviour in 5 patients was compatible with benign lesions. The biopsy of 2 patients indicated secondary lesions and malignancy was confirmed by the evolution of the 4 remaining cases. There was a total of 12 (66%) benign lesions. Discussion: Sarcoidosis must be suspected in the presence of hypermetabolic hiliar-mediastinal adenopathies with a characteristic morphological pattern and pulmonary changes. However, biopsy is required to rule out oncological recurrence. The use of new PET/CT markers for differential diagnosis represents a challenge. Aminoacid synthesis tracers such as “1”8F-fluorothymidine (FLT) and “1”8F-fluoromethyltyrosine (FMT) are useful in the differentiation between malignancy and granulomatous diseases in oncologic patients. Conclusion: The differential diagnosis of sarcoidosis should be considered in the presence of bilateral symmetric mediastinal hilum lymphadenopathies. (authors) [es

  18. Livestock disease threats associated with intensification of pastoral dairy farming.

    Lean, Ij; Westwood, Ct; Playford, Mc

    2008-12-01

    This paper provides an overview of the changes in the pasture-based dairy systems of New Zealand and Australia that may influence the health of cattle. There are relatively few available data that can be used to quantify the effects of increased intensification of milk production on the health of cattle. There is evidence that increased production increases the risk of mastitis and culling for udder health. Increased risks of mastitis with treatment with somatotropin support these findings; however, the risk of mastitis may decrease with increased milking frequency. Larger herds with greater stocking density should increase the risk for infectious disease, but evidence to support this contention is sparse. Very intensive grazing patterns associated with higher grass yields achieved using better cultivars and greater use of fertilisers favour nematode parasites. There is some evidence of anthelmintic resistance in both nematodes and liver fluke. Veterinarians will need to be aware of the potential for these to reduce the productivity of cattle. There have been benefits of improved nutrition on the efficiency of energy use for dairy production. Diseases such as bloat and ketosis appear to be of lower prevalence. It also appears that mineral nutrition of pasture-fed cattle is being better addressed, with gains in the control of milk fever, hypomagnesaemia and trace-element deficiencies. However, acidosis is a condition with a high point prevalence in pasture-based dairy systems where cows are fed supplements; one study in Australia found a point prevalence of approximately 11% of cows with acidosis. There is evidence from this study that the neutral detergent fibre (NDF) in pasture-based diets may need to be higher than 30% of the diet to maintain rumen stability. Laminitis and acidosis are different conditions with a similar pathogenesis, specifically highly fermentable diets. The prevalence of lameness was 28% in herds in Australia, suggesting that this condition

  19. Increase in diarrheal disease associated with arsenic mitigation in Bangladesh.

    Jianyong Wu

    Full Text Available Millions of households throughout Bangladesh have been exposed to high levels of arsenic (As causing various deadly diseases by drinking groundwater from shallow tubewells for the past 30 years. Well testing has been the most effective form of mitigation because it has induced massive switching from tubewells that are high (>50 µg/L in As to neighboring wells that are low in As. A recent study has shown, however, that shallow low-As wells are more likely to be contaminated with the fecal indicator E. coli than shallow high-As wells, suggesting that well switching might lead to an increase in diarrheal disease.Approximately 60,000 episodes of childhood diarrhea were collected monthly by community health workers between 2000 and 2006 in 142 villages of Matlab, Bangladesh. In this cross-sectional study, associations between childhood diarrhea and As levels in tubewell water were evaluated using logistic regression models.Adjusting for wealth, population density, and flood control by multivariate logistic regression, the model indicates an 11% (95% confidence intervals (CIs of 4-19% increase in the likelihood of diarrhea in children drinking from shallow wells with 10-50 µg/L As compared to shallow wells with >50 µg/L As. The same model indicates a 26% (95%CI: 9-42% increase in diarrhea for children drinking from shallow wells with ≤10 µg/L As compared to shallow wells with >50 µg/L As.Children drinking water from shallow low As wells had a higher prevalence of diarrhea than children drinking water from high As wells. This suggests that the health benefits of reducing As exposure may to some extent be countered by an increase in childhood diarrhea.

  20. Suppressive therapy for radiation-associated nodular thyroid disease

    Tamura, Kazuo; Shimaoka, Katsutaro; Tsukada, Yoshiaki; Razack, M.S.; Sciasicia, Michael.

    1981-01-01

    A thyroid screening program for individuals who had irradiation to the head and neck areas was started at Roswell Park Memorial Institute in February 1977 and by June 1979, 1,071 patients were seen in the clinic. Three hundred and ninety-six patients were found to have palpable abnormalities of the thyroid, and following pretreatment evaluation, suppressive therapy with triiodothyronine (T3) (50 μg/day) or DT (desiccated thyroid) (120 mg/day) was administered in a double-blind fashion. Two hundred fifty patients with nodular disease completed 6 mo of treatment and are analyzed in this paper. Pretreatment thyroid function tests showed that two patients had hypothyroidism with a high thyroid-stimulating hormone (TSH) and a low thyroxine level. A high incidence of thyroid autoantibodies was also noted and surgical findings confirmed a high incidence of chronic thyroiditis. Complete disappearance of the nodules was seen in 29% of the patients, and in addition, 38% of the patients were seen to have significant shrinkage of the nodules, indicating that radiation-associated thyroid nodules were as sensitive to the thyroactive agents as nonirradiated nodular thyroid disease. There was little difference in the response rate between T3 and DT. Both agents suppressed circulating TSH levels to an unmeasurable level in 76% of the patients. There was no correlation between scan findings and response rates. Thyroid carcinoma was found in 19% of the patients who underwent surgery; although all were well-differentiated carcinomas, two-thirds of the patients already had evidence of dissemination and/or invasion suggesting the aggressive nature of postirradiation thyroid carcinoma. (author)

  1. Is pseudoexfoliation syndrome associated with coronary artery disease?

    Emiroglu, Mehmet Yunus; Coskun, Erol; Karapinar, Hekim; Capkın, Musa; Kaya, Zekeriya; Kaya, Hasan; Akcakoyun, Mustafa; Kargin, Ramazan; Simsek, Zeki; Acar, Göksel; Aung, Soe Moe; Pala, Selcuk; Özdemir, Burak; Esen, Ali Metin; Kırma, Cevat

    2010-01-01

    Background: Pseudoexfoliation syndrome (PEX) is recognised by chronic deposition of abnormal pseudoexfoliation material on anterior segment structures of the eye, especially the anterior lens capsule. In recent years, several studies have shown the presence of vascular, cardiac and other organ pseudoexfoliative material in patients with ocular pseudoexfoliation. Aims: The purpose of this study is to determine whether an association exists between ocular pseudoexfoliation and coronary artery disease, aortic aneurysms and peripheric vascular disease. Patients and Methods: 490 patients who underwent coronary angiography (CAG) at Kosuyolu Cardiovascula Research and Training Hospital were included in the study. Patients were evaluated for conventional risk factors such as age, sex, family history, hypertension, diabetes, dislipidemia and smoking. Detailed eye examinations including evaluation of lens were done in all patients. The presence of PEX material in the anterior segment was best appreciated by slit lamp after pupillary dilation. The patients were divided into two groups according to the presence of PEX, and compared for the presence of CAD and other risk factors. Results: CAD was present in 387 patients. 103 patients had normal coronary angiography. 20 (5.2 %) of CAD patients and 4 (3.9%) of normal CAG patients were found to have PEX (p>0.05). There was no significant relationship between CAD and the presence of PEX (p>0.05). When patients were grouped according to the presence of PEX, only age was significantly different between the two groups (r: 0.25, p<0.001). Conclusion: There is no significant relationship between the presence of PEX and CAD. Further studies in larger scales with elderly population may be more valuable. PMID:22558552

  2. Headache among patients with HIV disease: prevalence, characteristics, and associations.

    Kirkland, Kale E; Kirkland, Karl; Many, W J; Smitherman, Todd A

    2012-03-01

    Headache is one of the most common medical complaints reported by individuals suffering from human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS), but limited and conflicting data exist regarding their prevalence, prototypical characteristics, and relationship to HIV disease variables in the current era of highly active antiretroviral therapy (HAART). The aims of the present cross-sectional study were to characterize headache symptoms among patients with HIV/AIDS and to assess relations between headache and HIV/AIDS disease variables. Two hundred HIV/AIDS patients (49% female; mean age = 43.22 ± 12.30 years; 74% African American) from an internal medicine clinic and an AIDS outreach clinic were administered a structured headache diagnostic interview to assess headache characteristics and features consistent with International Classification of Headache Disorders (ICHD)-II diagnostic semiologies. They also completed 2 measures of headache-related disability. Prescribed medications, most recent cluster of differentiation (CD4) cell count, date of HIV diagnosis, possible causes of secondary headache, and other relevant medical history were obtained via review of patient medical records. One hundred seven patients (53.5%) reported headache symptoms, the large majority of which were consistent with characteristics of primary headache disorders after excluding 4 cases attributable to secondary causes. Among those who met criteria for a primary headache disorder, 88 (85.44%) met criteria for migraine, most of which fulfilled ICHD-II appendix diagnostic criteria for chronic migraine. Fifteen patients (14.56%) met criteria for episodic or chronic tension-type headache. Severity of HIV (as indicated by CD4 cell counts), but not duration of HIV or number of prescribed antiretroviral medications, was strongly associated with headache severity, frequency, and disability and also distinguished migraine from TTH. Problematic headache is highly prevalent

  3. Association of chronic obstructive pulmonary disease and hemorrhoids

    Lin, Lih-Hwa; Siu, Justin Ji-Yuen; Liao, Po-Chi; Chiang, Jen-Huai; Chou, Pei-Chi; Chen, Huey-Yi; Ho, Tsung-Jung; Tsai, Ming-Yen; Chen, Yung-Hsiang; Chen, Wen-Chi

    2017-01-01

    Abstract According to traditional Chinese medicine (TCM) theory, a specific physiological and pathological relationship exists between the lungs and the large intestine. The aim of this study is to delineate the association of chronic obstructive pulmonary disease (COPD) and hemorrhoids in order to verify the “interior–exterior” relationship between the lungs and the large intestine. A retrospective cohort study is conceived from the National Health Insurance Research Database, Taiwan. The 2 samples (COPD cohort and non-COPD cohort) were selected from the 2000 to 2003 beneficiaries of the NHI, representing patients age 20 and older in Taiwan, with the follow-up ending on December 31, 2011. The COPD cohort (n = 51,506) includes every patient newly diagnosed as having Chronic Obstructive Pulmonary Disease (COPD, ICD-9-CM: 490–492, 494, 496), who have made at least 2 confirmed visits to the hospital/clinic. The non-COPD cohort (n = 103,012) includes patients without COPD and is selected via a 1:2 (COPD: non-COPD) matching by age group (per 5 years), gender, and index date (diagnosis date of COPD for the COPD cohort). Compared with non-COPD cohorts, patients with COPD have a higher likelihood of having hemorrhoids and the age-, gender- and comorbidies-adjusted hazard ratio (HR) for hemorrhoids is 1.56 (95% confidence intervals [CI]:1.50–1.62). The adjusted HR of hemorrhoids for females is 0.79 (95% CI: 0.77–0.83), which is significantly less than that for males. The elderly groups, 40 to 59 years and aged 60 or above, have higher adjusted HRs than younger age groups (20–39 years), 1.19 (95% CI: 1.14–1.26), and 1.18 (95% CI: 1.12–1.24), respectively. Patients with COPD may have a higher likelihood to have hemorrhoids in this retrospective cohort study. This study verifies the fundamental theorem of TCM that there is a definite pathogenic association between the lungs and large intestine. PMID:28272246

  4. Genetics Home Reference: uromodulin-associated kidney disease

    ... disease Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Health Topic: Gout Health Topic: Kidney Diseases Health Topic: Kidney Failure ...

  5. Intestinal T-cell responses in celiac disease - impact of celiac disease associated bacteria.

    Veronika Sjöberg

    Full Text Available A hallmark of active celiac disease (CD, an inflammatory small-bowel enteropathy caused by permanent intolerance to gluten, is cytokine production by intestinal T lymphocytes. Prerequisites for contracting CD are that the individual carries the MHC class II alleles HLA-DQ2 and/or HLA-DQ8 and is exposed to gluten in the diet. Dysbiosis in the resident microbiota has been suggested to be another risk factor for CD. In fact, rod shaped bacteria adhering to the small intestinal mucosa were frequently seen in patients with CD during the "Swedish CD epidemic" and bacterial candidates could later be isolated from patients born during the epidemic suggesting long-lasting changes in the gut microbiota. Interleukin-17A (IL-17A plays a role in both inflammation and anti-bacterial responses. In active CD IL-17A was produced by both CD8(+ T cells (Tc17 and CD4(+ T cells (Th17, with intraepithelial Tc17 cells being the dominant producers. Gluten peptides as well as CD associated bacteria induced IL-17A responses in ex vivo challenged biopsies from patients with inactive CD. The IL-17A response was suppressed in patients born during the epidemic when a mixture of CD associated bacteria was added to gluten, while the reverse was the case in patients born after the epidemic. Under these conditions Th17 cells were the dominant producers. Thus Tc17 and Th17 responses to gluten and bacteria seem to pave the way for the chronic disease with interferon-γ-production by intraepithelial Tc1 cells and lamina propria Th1 cells. The CD associated bacteria and the dysbiosis they might cause in the resident microbiota may be a risk factor for CD either by directly influencing the immune responses in the mucosa or by enhancing inflammatory responses to gluten.

  6. Association between noninvasive fibrosis markers and chronic kidney disease among adults with nonalcoholic fatty liver disease.

    Giorgio Sesti

    Full Text Available Evidence suggests that nonalcoholic fatty liver disease (NAFLD and non-alcoholic steatohepatitis (NASH are associated with an increased risk of chronic kidney disease (CKD. In this study we aimed to evaluate whether the severity of liver fibrosis estimated by NAFLD fibrosis score is associated with higher prevalence of CKD in individuals with NAFLD. To this end NAFLD fibrosis score and estimated glomerular filtration rate (eGFR were assessed in 570 White individuals with ultrasonography-diagnosed NAFLD. As compared with subjects at low probability of liver fibrosis, individuals at high and intermediate probability showed an unfavorable cardio-metabolic risk profile having significantly higher values of waist circumference, insulin resistance, high sensitivity C-reactive protein, fibrinogen, uric acid and lower insulin-like growth factor-1 levels. Individuals at high and intermediate probability of liver fibrosis have lower eGFR after adjustment for gender, smoking, glucose tolerance status, homeostasis model assessment index of insulin resistance (HOMA-IR index, diagnosis of metabolic syndrome, statin therapy, anti-diabetes and anti-hypertensive treatments (P = 0.001. Individuals at high probability of liver fibrosis had a 5.1-fold increased risk of having CKD (OR 5.13, 95%CI 1.13-23.28; P = 0.03 as compared with individuals at low probability after adjustment for age, gender, and BMI. After adjustment for glucose tolerance status, statin therapy, and anti-hypertensive treatment in addition to gender, individuals at high probability of liver fibrosis had a 3.9-fold increased risk of CKD (OR 3.94, 95%CI 1.11-14.05; P = 0.03 as compared with individuals at low probability. In conclusion, advanced liver fibrosis, determined by noninvasive fibrosis markers, is associated with CKD independently from other known factors.

  7. Advanced sickle cell associated interstitial lung disease presenting ...

    Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...

  8. Anaemia in pregnancy is associated with advanced HIV disease.

    Vikesh Nandlal

    Full Text Available Anaemia is a common clinical finding in HIV infected women and has been associated with advanced disease. The use of antiretroviral drugs such as Zidovudine (ZDV either for prevention of mother to child transmission (MTCT of HIV or used in combination with other antiretrovirals have been implicated in the development or increased severity of anaemia. We report the prevalence, type, severity and incidence of anaemia in a cohort of HIV infected women who initiated antiretroviral prophylaxis or treatment during pregnancy.This is a retrospective cohort data analysis of 408 HIV infected pregnant women who participated in a breastfeeding intervention study (HPTN 046 Study, ClinicalTrials.gov NCT 00074412 in South Africa. Women initiated zidovudine prophylaxis for PMTCT or triple antiretroviral treatment in pregnancy according to the standard of care. Laboratory and clinical data in pregnancy, <72 hours and 2 weeks postdelivery were extracted from the main database and analysed.The mean Hb concentration was 10.6 g/dL at baseline and 262/408 (64.2% women were diagnosed with anaemia (Hb<11 g/dL in pregnancy, 48/146 (32.9% subsequently developed anaemia intrapartum or postpartum and 89/310 (28.7% of all cases of anaemia remained unresolved by 2 weeks postdelivery. In a univariate analysis, CD4 count and gravidity were significant risk factors for anaemia in pregnancy, RR 1.41; 1.23-1.61 (p<0.001 and 1.10; 1.01-1.18 (p = 0.02 respectively. After adjusting for antiretroviral regimen, age and gravidity in a multivariable analysis, only the CD4 count remains a significant risk factor for anaemia in pregnancy and postdelivery.In conclusion, anaemia was most common among women in the advanced stage of HIV infection (CD4<200 cells/mm3. There was no evidence of an association between ZDV or triple ARVs and anaemia.

  9. Alzheimer's Disease and Autistic Spectrum Disorder: Is there any Association?

    Khan, Sarah A; Khan, Shahida A; Narendra, A R; Mushtaq, Gohar; Zahran, Solafa A; Khan, Shahzad; Kamal, Mohammad A

    2016-01-01

    Autism spectrum disorder (ASD) and Alzheimer's disease (AD) are neurodevelopmental and neurodegenerative disorders respectively, with devastating effects not only on the individual but also the society. Collectively, a number of factors contribute to the expression of ASD and AD. It is of utmost curiosity that these disorders express at different stages of life and there is an involvement of certain susceptible genes. This genetic basis makes the background of common associations like memory deficits, cognition changes, demyelination, oxidative stress and inflammation, an integral part of both disorders. Modern technology resulting in genetically modified crops and increase in gadgets emitting electromagnetic frequencies have resulted in enhanced risks for neurological dysfunctions and disorders like ASD and AD. Subsequent advances in the psychological, pharmacological, biochemical and nutritional aspects of the disorders have resulted in the development of newer therapeutic approaches. The common clinical features like language impairment, executive functions, and motor problems have been discussed along with the patho-physiological changes, role of DNA methylation, myelin development, and heavy metals in the expression of these disorders. Psychopharmacological and nutritional approaches towards the reduction and management of risk factors have gained attention from the researchers in recent years. Current major therapies either target the inflammatory pathways or reduce cellular oxidative stress. This contribution focuses on the commonalities of the two disorders.

  10. An emerging mycoplasma associated with trichomoniasis, vaginal infection and disease.

    Jennifer M Fettweis

    Full Text Available Humans are colonized by thousands of bacterial species, but it is difficult to assess the metabolic and pathogenic potential of the majority of these because they have yet to be cultured. Here, we characterize an uncultivated vaginal mycoplasma tightly associated with trichomoniasis that was previously known by its 16S rRNA sequence as "Mnola." In this study, the mycoplasma was found almost exclusively in women infected with the sexually transmitted pathogen Trichomonas vaginalis, but rarely observed in women with no diagnosed disease. The genomes of four strains of this species were reconstructed using metagenome sequencing and assembly of DNA from four discrete mid-vaginal samples, one of which was obtained from a pregnant woman with trichomoniasis who delivered prematurely. These bacteria harbor several putative virulence factors and display unique metabolic strategies. Genes encoding proteins with high similarity to potential virulence factors include two collagenases, a hemolysin, an O-sialoglycoprotein endopeptidase and a feoB-type ferrous iron transport system. We propose the name "Candidatus Mycoplasma girerdii" for this potential new pathogen.

  11. Thick Filament Protein Network, Functions, and Disease Association.

    Wang, Li; Geist, Janelle; Grogan, Alyssa; Hu, Li-Yen R; Kontrogianni-Konstantopoulos, Aikaterini

    2018-03-13

    Sarcomeres consist of highly ordered arrays of thick myosin and thin actin filaments along with accessory proteins. Thick filaments occupy the center of sarcomeres where they partially overlap with thin filaments. The sliding of thick filaments past thin filaments is a highly regulated process that occurs in an ATP-dependent manner driving muscle contraction. In addition to myosin that makes up the backbone of the thick filament, four other proteins which are intimately bound to the thick filament, myosin binding protein-C, titin, myomesin, and obscurin play important structural and regulatory roles. Consistent with this, mutations in the respective genes have been associated with idiopathic and congenital forms of skeletal and cardiac myopathies. In this review, we aim to summarize our current knowledge on the molecular structure, subcellular localization, interacting partners, function, modulation via posttranslational modifications, and disease involvement of these five major proteins that comprise the thick filament of striated muscle cells. © 2018 American Physiological Society. Compr Physiol 8:631-709, 2018. Copyright © 2018 American Physiological Society. All rights reserved.

  12. An emerging mycoplasma associated with trichomoniasis, vaginal infection and disease.

    Fettweis, Jennifer M; Serrano, Myrna G; Huang, Bernice; Brooks, J Paul; Glascock, Abigail L; Sheth, Nihar U; Strauss, Jerome F; Jefferson, Kimberly K; Buck, Gregory A

    2014-01-01

    Humans are colonized by thousands of bacterial species, but it is difficult to assess the metabolic and pathogenic potential of the majority of these because they have yet to be cultured. Here, we characterize an uncultivated vaginal mycoplasma tightly associated with trichomoniasis that was previously known by its 16S rRNA sequence as "Mnola." In this study, the mycoplasma was found almost exclusively in women infected with the sexually transmitted pathogen Trichomonas vaginalis, but rarely observed in women with no diagnosed disease. The genomes of four strains of this species were reconstructed using metagenome sequencing and assembly of DNA from four discrete mid-vaginal samples, one of which was obtained from a pregnant woman with trichomoniasis who delivered prematurely. These bacteria harbor several putative virulence factors and display unique metabolic strategies. Genes encoding proteins with high similarity to potential virulence factors include two collagenases, a hemolysin, an O-sialoglycoprotein endopeptidase and a feoB-type ferrous iron transport system. We propose the name "Candidatus Mycoplasma girerdii" for this potential new pathogen.

  13. Probiotics for the treatment of Clostridium difficile associated disease

    Fitzpatrick, Leo R

    2013-01-01

    The purpose of this review paper is to update the current and potential future role of probiotics for Clostridium difficile-associated disease (CDAD). Included in this review, is an update on the testing of newer probiotics (e.g., Bacillus coagulans GBI-30, 6086) in animal models of CDAD. There is a focus on the modulation of signal transduction pathways (i.e., transcription factors like cAMP response element-binding, activator protein 1, and nuclear factor kappa B), as well as the inhibition of certain kinases (e.g., p38 mitogen activated protein kinases) by probiotics. Inhibition of signal transduction by probiotics, such as Saccharomyces boulardii, result in multiple effects on intestinal fluid secretion, neutrophil influx into the colon, inflammation, and colonocyte apoptosis that may positively impact CDAD. Recent clinical approaches with probiotics, for the prevention of primary and recurrent CDAD, are also summarized in this review paper. Future directions for the treatment of CDAD by probiotics are also mentioned in this review. In particular, the use of multi-strain probiotic formulations such as Ecologic® AAD and VSL #3® may represent a rationale pharmacological approach, particularly as adjunctive therapies for CDAD. Understanding the mechanistic basis of CDAD, and how probiotics interfere at ceratin steps in the pathogenic process, may also present the opportunity to design other multi-strain probiotics that could have a future impact on CDAD. PMID:23946887

  14. Anaemia in pregnancy is associated with advanced HIV disease.

    Nandlal, Vikesh; Moodley, Dhayendre; Grobler, Anneke; Bagratee, Jayanthilall; Maharaj, Niren R; Richardson, Paul

    2014-01-01

    Anaemia is a common clinical finding in HIV infected women and has been associated with advanced disease. The use of antiretroviral drugs such as Zidovudine (ZDV) either for prevention of mother to child transmission (MTCT) of HIV or used in combination with other antiretrovirals have been implicated in the development or increased severity of anaemia. We report the prevalence, type, severity and incidence of anaemia in a cohort of HIV infected women who initiated antiretroviral prophylaxis or treatment during pregnancy. This is a retrospective cohort data analysis of 408 HIV infected pregnant women who participated in a breastfeeding intervention study (HPTN 046 Study, ClinicalTrials.gov NCT 00074412) in South Africa. Women initiated zidovudine prophylaxis for PMTCT or triple antiretroviral treatment in pregnancy according to the standard of care. Laboratory and clinical data in pregnancy, anaemia (Hbpregnancy, 48/146 (32.9%) subsequently developed anaemia intrapartum or postpartum and 89/310 (28.7%) of all cases of anaemia remained unresolved by 2 weeks postdelivery. In a univariate analysis, CD4 count and gravidity were significant risk factors for anaemia in pregnancy, RR 1.41; 1.23-1.61 (panaemia in pregnancy and postdelivery. In conclusion, anaemia was most common among women in the advanced stage of HIV infection (CD4anaemia.

  15. Associations between life stress and subclinical cardiovascular disease are partly mediated by depressive and anxiety symptoms

    Bomhof-Roordink, Hanna; Seldenrijk, Adrie; van Hout, Hein P. J.; van Marwijk, Harm W. J.; Diamant, Michaela; Penninx, Brenda W. J. H.

    Background: Stress experienced during childhood or adulthood has been associated with cardiovascular disease (CVD), but it is not clear whether associations are already prevalent on a subclinical cardiovascular level. This study investigates associations between indicators of life stress and

  16. Reduced serum myostatin concentrations associated with genetic muscle disease progression.

    Burch, Peter M; Pogoryelova, Oksana; Palandra, Joe; Goldstein, Richard; Bennett, Donald; Fitz, Lori; Guglieri, Michela; Bettolo, Chiara Marini; Straub, Volker; Evangelista, Teresinha; Neubert, Hendrik; Lochmüller, Hanns; Morris, Carl

    2017-03-01

    Myostatin is a highly conserved protein secreted primarily from skeletal muscle that can potently suppress muscle growth. This ability to regulate skeletal muscle mass has sparked intense interest in the development of anti-myostatin therapies for a wide array of muscle disorders including sarcopenia, cachexia and genetic neuromuscular diseases. While a number of studies have examined the circulating myostatin concentrations in healthy and sarcopenic populations, very little data are available from inherited muscle disease patients. Here, we have measured the myostatin concentration in serum from seven genetic neuromuscular disorder patient populations using immunoaffinity LC-MS/MS. Average serum concentrations of myostatin in all seven muscle disease patient groups were significantly less than those measured in healthy controls. Furthermore, circulating myostatin concentrations correlated with clinical measures of disease progression for five of the muscle disease patient populations. These findings greatly expand the understanding of myostatin in neuromuscular disease and suggest its potential utility as a biomarker of disease progression.

  17. Identification of unstable network modules reveals disease modules associated with the progression of Alzheimer's disease.

    Masataka Kikuchi

    Full Text Available Alzheimer's disease (AD, the most common cause of dementia, is associated with aging, and it leads to neuron death. Deposits of amyloid β and aberrantly phosphorylated tau protein are known as pathological hallmarks of AD, but the underlying mechanisms have not yet been revealed. A high-throughput gene expression analysis previously showed that differentially expressed genes accompanying the progression of AD were more down-regulated than up-regulated in the later stages of AD. This suggested that the molecular networks and their constituent modules collapsed along with AD progression. In this study, by using gene expression profiles and protein interaction networks (PINs, we identified the PINs expressed in three brain regions: the entorhinal cortex (EC, hippocampus (HIP and superior frontal gyrus (SFG. Dividing the expressed PINs into modules, we examined the stability of the modules with AD progression and with normal aging. We found that in the AD modules, the constituent proteins, interactions and cellular functions were not maintained between consecutive stages through all brain regions. Interestingly, the modules were collapsed with AD progression, specifically in the EC region. By identifying the modules that were affected by AD pathology, we found the transcriptional regulation-associated modules that interact with the proteasome-associated module via UCHL5 hub protein, which is a deubiquitinating enzyme. Considering PINs as a system made of network modules, we found that the modules relevant to the transcriptional regulation are disrupted in the EC region, which affects the ubiquitin-proteasome system.

  18. Exploring the association between Morgellons disease and Lyme disease: identification of Borrelia burgdorferi in Morgellons disease patients.

    Middelveen, Marianne J; Bandoski, Cheryl; Burke, Jennie; Sapi, Eva; Filush, Katherine R; Wang, Yean; Franco, Agustin; Mayne, Peter J; Stricker, Raphael B

    2015-02-12

    Morgellons disease (MD) is a complex skin disorder characterized by ulcerating lesions that have protruding or embedded filaments. Many clinicians refer to this condition as delusional parasitosis or delusional infestation and consider the filaments to be introduced textile fibers. In contrast, recent studies indicate that MD is a true somatic illness associated with tickborne infection, that the filaments are keratin and collagen in composition and that they result from proliferation and activation of keratinocytes and fibroblasts in the skin. Previously, spirochetes have been detected in the dermatological specimens from four MD patients, thus providing evidence of an infectious process. Based on culture, histology, immunohistochemistry, electron microscopy and molecular testing, we present corroborating evidence of spirochetal infection in a larger group of 25 MD patients. Irrespective of Lyme serological reactivity, all patients in our study group demonstrated histological evidence of epithelial spirochetal infection. Strength of evidence based on other testing varied among patients. Spirochetes identified as Borrelia strains by polymerase chain reaction (PCR) and/or in-situ DNA hybridization were detected in 24/25 of our study patients. Skin cultures containing Borrelia spirochetes were obtained from four patients, thus demonstrating that the organisms present in dermatological specimens were viable. Spirochetes identified by PCR as Borrelia burgdorferi were cultured from blood in seven patients and from vaginal secretions in three patients, demonstrating systemic infection. Based on these observations, a clinical classification system for MD is proposed. Our study using multiple detection methods confirms that MD is a true somatic illness associated with Borrelia spirochetes that cause Lyme disease. Further studies are needed to determine the optimal treatment for this spirochete-associated dermopathy.

  19. Association Between Screen-Detected Gallstone Disease and Cancer in a Cohort Study

    Shabanzadeh, Daniel Mønsted; Sørensen, Lars Tue; Jørgensen, Torben

    2017-01-01

    , sigmoid colon, and rectal cancers were not associated with gallstone disease. Breast cancer had a weak association with gallstone disease depending on other factors (10.6% of patients with gallstone disease vs 7.41% without; hazard ratio, 1.44; 95% confidence interval, 0.99-2.11). Pooled...... ratio, 1.50; 95% confidence interval, 1.12-2.01). Right-side colon cancer was also associated with gallstone disease (2.57% of patients with gallstone disease vs 0.96% without; hazard ratio, 2.04; 95% confidence interval, 1.10-3.78). Pancreatic, esophageal, gastric, pooled colorectal, left-side colon...... nongastrointestinal and prostate cancers were not associated with gallstone disease. Conclusions: Screen-detected gallstone disease in the general population is associated with pooled gastrointestinal and right-side colon cancers. These associations are not due to detection bias or cholecystectomy. Further studies...

  20. Smoking is Associated With Extra-intestinal Manifestations in Inflammatory Bowel Disease

    Severs, M.; van Erp, S. J. H.; van der Valk, M. E.; Mangen, M. J. J.; Fidder, H. H.; van der Have, M.; van Bodegraven, A. A.; de Jong, D. J.; van der Woude, C. J.; Romberg-Camps, M. J. L.; Clemens, C. H. M.; Jansen, J. M.; van de Meeberg, P. C.; Mahmmod, N.; Ponsioen, C. Y.; Bolwerk, C.; Vermeijden, J. R.; Pierik, M. J.; Siersema, P. D.; Leenders, M.; van der Meulen-de Jong, A. E.; Dijkstra, G.; Oldenburg, B.

    2016-01-01

    Smoking affects the course of disease in patients with ulcerative colitis (UC) and Crohn's disease (CD). We aimed to study the association between smoking and extra-intestinal manifestations (EIMs) in inflammatory bowel disease (IBD). We cross-sectionally explored the association between smoking and

  1. Riedel's thyroiditis association with IgG4-related disease.

    Stan, Marius N; Sonawane, Vikram; Sebo, Thomas J; Thapa, Prabin; Bahn, Rebecca S

    2017-03-01

    IgG4-positive (+) plasma cells have been reported in both Riedel's thyroiditis (RT) and Hashimoto's thyroiditis (HT). These cells are the hallmark of IgG4-related disease (IgG4-RD). We sought to determine whether RT is part of IgG4-RD spectrum. This was a case-control study performed at a tertiary medical centre. We included RT cases from the period 1958 to 2008 that had sufficient paraffin-embedded tissue for IgG4 immunostaining. Controls were patients with HT, age and gender matched, with similar pathology criteria. The main outcome measures were the intensity of the IgG4 staining and the clinical and histological correlates with IgG4-RD. Six pairs of RT and HT were analysed. The mean age was 44·7 years. In both groups, 5/6 cases had positive IgG4 staining. The mean number of IgG4 + cells/ HPF, normalized to the degree of inflammation, was 3·2 ± 3·0 SD (RT) vs 0·9 ± 0·7 (HT), P = 0·15, for fibrotic areas and 2·1 ± 2·3 SD vs 1·0 ± 0·8 (P = 0·39) for areas with lymphoid aggregates. We found the number of IgG4 +  cells in RT to be inversely correlated with the duration of disease (P = 0·046). Three RT cases had associated comorbidities from the IgG4-RD spectrum while none of the HT cases had such conditions. Riedel's thyroiditis is a component of IgG4-RD with the density of the IgG4 +  lymphocytic infiltrate being time dependent. In this small study, we did not identify differences in IgG4 infiltration between RT and HT, minimizing the utility of this marker in RT diagnosis. © 2016 John Wiley & Sons Ltd.

  2. Common genetic variants associated with thyroid function may be risk alleles for Hashimoto's disease and Graves' disease.

    Campbell, Purdey; Brix, Thomas H; Wilson, Scott G; Ward, Lynley C; Hui, Jennie; Beilby, John P; Hegedüs, Laszlo; Walsh, John P

    2015-02-14

    Recent studies have identified common genetic variants associated with TSH, free T4 and thyroid peroxidase antibodies, but it is unclear whether these differ between patients with Hashimoto's disease and Graves' disease. To examine whether 11 common genetic variants differ between Graves' disease and Hashimoto's disease. We genotyped 11 common variants in a discovery cohort of 203 Australian patients with autoimmune thyroid disease (AITD). Two variants with significant or suggestive associations were analysed in a replication cohort of 384 Danish patients. For rs753760 (PDE10A), the minor allele frequency in Graves' disease and Hashimoto's disease was 0·38 vs. 0·23, respectively, (P = 6·42 × 10 -4 ) in the discovery cohort, 0·29 vs. 0·24 (P = 0·147) in the replication cohort and 0·32 vs. 0·24 in combined analysis (P = 0·0021; all analyses adjusted for sex). In healthy controls from Busselton, the frequency was 0·29, significantly different from Hashimoto's disease but not Graves' disease. For rs4889009 (MAF gene region), the frequency of the minor G-allele in Graves' disease and Hashimoto's disease was 0·48 vs. 0·36 (P = 0·0156) in the discovery cohort, 0·48 vs. 0·34 (P = 1·83 × 10 -4 ) in the replication cohort and 0·48 vs. 0·35 in the combined analysis (P = 7·53 × 10 -6 ); in controls, the frequency was 0·38, significantly different from Graves' disease but not Hashimoto's disease. After further adjustment for smoking, associations with rs4889009 remained significant, whereas those with rs753760 were not. Common variants in PDE10A and MAF gene regions may influence whether patients with AITD develop Graves' disease or Hashimoto's disease. © 2015 John Wiley & Sons Ltd.

  3. Macrophage phenotype is associated with disease severity in preterm infants with chronic lung disease.

    Prince, Lynne R; Maxwell, Nicola C; Gill, Sharonjit K; Dockrell, David H; Sabroe, Ian; McGreal, Eamon P; Kotecha, Sailesh; Whyte, Moira K

    2014-01-01

    The etiology of persistent lung inflammation in preterm infants with chronic lung disease of prematurity (CLD) is poorly characterized, hampering efforts to stratify prognosis and treatment. Airway macrophages are important innate immune cells with roles in both the induction and resolution of tissue inflammation. To investigate airway innate immune cellular phenotypes in preterm infants with respiratory distress syndrome (RDS) or CLD. Bronchoalveolar lavage (BAL) fluid was obtained from term and preterm infants requiring mechanical ventilation. BAL cells were phenotyped by flow cytometry. Preterm birth was associated with an increase in the proportion of non-classical CD14(+)/CD16(+) monocytes on the day of delivery (58.9 ± 5.8% of total mononuclear cells in preterm vs 33.0 ± 6.1% in term infants, p = 0.02). Infants with RDS were born with significantly more CD36(+) macrophages compared with the CLD group (70.3 ± 5.3% in RDS vs 37.6 ± 8.9% in control, p = 0.02). At day 3, infants born at a low gestational age are more likely to have greater numbers of CD14(+) mononuclear phagocytes in the airway (p = 0.03), but fewer of these cells are functionally polarized as assessed by HLA-DR (p = 0.05) or CD36 (p = 0.05) positivity, suggesting increased recruitment of monocytes or a failure to mature these cells in the lung. These findings suggest that macrophage polarization may be affected by gestational maturity, that more immature macrophage phenotypes may be associated with the progression of RDS to CLD and that phenotyping mononuclear cells in BAL could predict disease outcome.

  4. Macrophage phenotype is associated with disease severity in preterm infants with chronic lung disease.

    Lynne R Prince

    Full Text Available The etiology of persistent lung inflammation in preterm infants with chronic lung disease of prematurity (CLD is poorly characterized, hampering efforts to stratify prognosis and treatment. Airway macrophages are important innate immune cells with roles in both the induction and resolution of tissue inflammation.To investigate airway innate immune cellular phenotypes in preterm infants with respiratory distress syndrome (RDS or CLD.Bronchoalveolar lavage (BAL fluid was obtained from term and preterm infants requiring mechanical ventilation. BAL cells were phenotyped by flow cytometry.Preterm birth was associated with an increase in the proportion of non-classical CD14(+/CD16(+ monocytes on the day of delivery (58.9 ± 5.8% of total mononuclear cells in preterm vs 33.0 ± 6.1% in term infants, p = 0.02. Infants with RDS were born with significantly more CD36(+ macrophages compared with the CLD group (70.3 ± 5.3% in RDS vs 37.6 ± 8.9% in control, p = 0.02. At day 3, infants born at a low gestational age are more likely to have greater numbers of CD14(+ mononuclear phagocytes in the airway (p = 0.03, but fewer of these cells are functionally polarized as assessed by HLA-DR (p = 0.05 or CD36 (p = 0.05 positivity, suggesting increased recruitment of monocytes or a failure to mature these cells in the lung.These findings suggest that macrophage polarization may be affected by gestational maturity, that more immature macrophage phenotypes may be associated with the progression of RDS to CLD and that phenotyping mononuclear cells in BAL could predict disease outcome.

  5. Identification of genetic variants associated with Huntington's disease progression

    Hensman Moss, Davina J; Pardiñas, Antonio F; Langbehn, Douglas

    2017-01-01

    indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers...... in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression......BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate...

  6. Evaluation of diseases associated to occupational exposure to ionizing radiations

    Suarez, Ileana Frometa

    1997-01-01

    A retrospective investigation of all cases of radiation workers with diseases and injuries, considered as occupational diseases caused by ionizing radiation is presented. The investigation includes all cases registered in the Institute of Occupational Health over five years period (1990-1995). The incidence of that diseases are studied, as well as the correlation between each type of source, time of exposure and annual average equivalent individual dose

  7. Association between cardiovascular diseases and mobility in persons with lower limb amputation : A systematic review

    Kaptein, Sara; Geertzen, Jan H B; Dijkstra, Pieter U

    2018-01-01

    PURPOSE: Persons requiring a lower limb amputation often have cardiovascular diseases that reduce cardiac function, which may complicate recovery and rehabilitation after an amputation. This systematic review analysis the association between cardiovascular diseases and mobility in persons with a

  8. Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

    Rooijers, K.; Loayza-Puch, F.; Nijtmans, L.G.J.; Agami, R.

    2013-01-01

    Mitochondria are essential cellular organelles for generation of energy and their dysfunction may cause diabetes, Parkinson's disease and multi-systemic failure marked by failure to thrive, gastrointestinal problems, lactic acidosis and early lethality. Disease-associated mitochondrial mutations

  9. Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

    K. Rooijers (Koos); F. Loayza-Puch (Fabricio); L.G.J. Nijtmans (Leo); R. Agami (Reuven)

    2013-01-01

    textabstractMitochondria are essential cellular organelles for generation of energy and their dysfunction may cause diabetes, Parkinson's disease and multi-systemic failure marked by failure to thrive, gastrointestinal problems, lactic acidosis and early lethality. Disease-associated mitochondrial

  10. The association between the gut microbiota and the inflammatory bowel disease activity

    Prosberg, Michelle V; Bendtsen, Flemming; Vind, Ida

    2016-01-01

    BACKGROUND: The pathogenesis of inflammatory bowel diseases (IBD) involves complex interactions between the microbiome and the immune system. We evaluated the association between the gut microbiota and disease activity in IBD patients. METHODS: Systematic review of clinical studies based...

  11. An analysis of preoperative localization of parathyroid glands in hyperparathyroidism associated with thyroid diseases

    Komatsu, Makoto; Inoue, Kazuaki; Itoh, Atsuko.

    1996-01-01

    Recently hyperparathyroidism associated with some thyroid diseases, especially nonmedually thyroid carcinoma has been payed attention to. In this study we analyzed 12 cases of hyperparathyroidism (6 cases independent of thyroid diseases and 6 cases associated with thyroid diseases) and estimated the affect of association with thyroid diseases on the preoperative localization of the parathyroid glands. The results of preoperative localization of the parathyroid glands in cases independent of thyroid diseases were relatively satisfactory. On the other hand, the preoperative localization in cases associated with thyroid diseases came to false result in about half of them. It was far from satisfactory. Association of thyroid diseases strongly affected the preoperative localization of the parathyroid glands in hyperparathyroidism. Conventional imaging such as ultrasonography, CT, MRI and 201 Tl- 99m TC subtraction scintigraphy alone were not satisfactory. Now 99m Tc-MIBI scintigraphy is expected to be one of reliable imaging methods for progress in the preoperative localization. (author)

  12. Markers associated with disease resistance in Eastern oysters, Crassostrea virginica

    Eastern oyster, Crassostrea viginica, is an economically important aquaculture species in the USA, but production has been impacted by diseases such as dermo and MSX. Efforts have been put into the development of disease-resistant oyster lines using selective breeding techniques. However, these met...

  13. Association of plasma protein C levels and coronary artery disease ...

    Several studies have shown the risk factor causes of coronary heart disease. In this study we tested the hypothesis that plasma protein C level might be used as a biomarker for coronary heart disease and myocardial infarction. The study included 60 men that were classified into 3 groups according to clinical examination; ...

  14. Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

    Webb, Thomas R.; Erdmann, Jeanette; Stirrups, Kathleen E.; Stitziel, Nathan O.; Masca, Nicholas G. D.; Jansen, Henning; Kanoni, Stavroula; Nelson, Christopher P.; Ferrario, Paola G.; König, Inke R.; Eicher, John D.; Johnson, Andrew D.; Hamby, Stephen E.; Betsholtz, Christer; Ruusalepp, Arno; Franzén, Oscar; Schadt, Eric E.; Björkegren, Johan L. M.; Weeke, Peter E.; Auer, Paul L.; Schick, Ursula M.; Lu, Yingchang; Zhang, He; Dube, Marie-Pierre; Goel, Anuj; Farrall, Martin; Peloso, Gina M.; Won, Hong-Hee; Do, Ron; van Iperen, Erik; Kruppa, Jochen; Mahajan, Anubha; Scott, Robert A.; Willenborg, Christina; Braund, Peter S.; van Capelleveen, Julian C.; Doney, Alex S. F.; Donnelly, Louise A.; Asselta, Rosanna; Merlini, Pier A.; Duga, Stefano; Marziliano, Nicola; Denny, Josh C.; Shaffer, Christian; El-Mokhtari, Nour Eddine; Franke, Andre; Heilmann, Stefanie; Hengstenberg, Christian; Hoffmann, Per; Holmen, Oddgeir L.; Hveem, Kristian; Jansson, Jan-Håkan; Jöckel, Karl-Heinz; Kessler, Thorsten; Kriebel, Jennifer; Laugwitz, Karl L.; Marouli, Eirini; Martinelli, Nicola; McCarthy, Mark I.; van Zuydam, Natalie R.; Meisinger, Christa; Esko, Tõnu; Mihailov, Evelin; Escher, Stefan A.; Alver, Maris; Moebus, Susanne; Morris, Andrew D.; Virtamo, Jarma; Nikpay, Majid; Olivieri, Oliviero; Provost, Sylvie; AlQarawi, Alaa; Robertson, Neil R.; Akinsansya, Karen O.; Reilly, Dermot F.; Vogt, Thomas F.; Yin, Wu; Asselbergs, Folkert W.; Kooperberg, Charles; Jackson, Rebecca D.; Stahl, Eli; Müller-Nurasyid, Martina; Strauch, Konstantin; Varga, Tibor V.; Waldenberger, Melanie; Zeng, Lingyao; Chowdhury, Rajiv; Salomaa, Veikko; Ford, Ian; Jukema, J. Wouter; Amouyel, Philippe; Kontto, Jukka; Nordestgaard, Børge G.; Ferrières, Jean; Saleheen, Danish; Sattar, Naveed; Surendran, Praveen; Wagner, Aline; Young, Robin; Howson, Joanna M. M.; Butterworth, Adam S.; Danesh, John; Ardissino, Diego; Bottinger, Erwin P.; Erbel, Raimund; Franks, Paul W.; Girelli, Domenico; Hall, Alistair S.; Hovingh, G. Kees; Kastrati, Adnan; Lieb, Wolfgang; Meitinger, Thomas; Kraus, William E.; Shah, Svati H.; McPherson, Ruth; Orho-Melander, Marju; Melander, Olle; Metspalu, Andres; Palmer, Colin N. A.; Peters, Annette; Rader, Daniel J.; Reilly, Muredach P.; Loos, Ruth J. F.; Reiner, Alex P.; Roden, Dan M.; Tardif, Jean-Claude; Thompson, John R.; Wareham, Nicholas J.; Watkins, Hugh; Willer, Cristen J.; Samani, Nilesh J.; Schunkert, Heribert; Deloukas, Panos; Kathiresan, Sekar

    2017-01-01

    Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. This study sought to systematically test if genetic variants identified for non-CAD

  15. Antiscience and ethical concerns associated with advocacy of Lyme disease

    Auwaerter, Paul G; Bakken, Johan S; Dattwyler, Raymond J; Dumler, J Stephen; Halperin, John J; McSweegan, Edward; Nadelman, Robert B; O’Connell, Susan; Shapiro, Eugene D; Sood, Sunil K; Steere, Allen C; Weinstein, Arthur; Wormser, Gary P

    2015-01-01

    Advocacy for Lyme disease has become an increasingly important part of an antiscience movement that denies both the viral cause of AIDS and the benefits of vaccines and that supports unproven (sometimes dangerous) alternative medical treatments. Some activists portray Lyme disease, a geographically limited tick-borne infection, as a disease that is insidious, ubiquitous, difficult to diagnose, and almost incurable; they also propose that the disease causes mainly non-specific symptoms that can be treated only with long-term antibiotics and other unorthodox and unvalidated treatments. Similar to other antiscience groups, these advocates have created a pseudoscientific and alternative selection of practitioners, research, and publications and have coordinated public protests, accused opponents of both corruption and conspiracy, and spurred legislative efforts to subvert evidence-based medicine and peer-reviewed science. The relations and actions of some activists, medical practitioners, and commercial bodies involved in Lyme disease advocacy pose a threat to public health. PMID:21867956

  16. Cassava brown streak disease in Rwanda, the associated viruses and disease phenotypes.

    Munganyinka, E; Ateka, E M; Kihurani, A W; Kanyange, M C; Tairo, F; Sseruwagi, P; Ndunguru, J

    2018-02-01

    Cassava brown streak disease (CBSD) was first observed on cassava ( Manihot esculenta ) in Rwanda in 2009. In 2014 eight major cassava-growing districts in the country were surveyed to determine the distribution and variability of symptom phenotypes associated with CBSD, and the genetic diversity of cassava brown streak viruses. Distribution of the CBSD symptom phenotypes and their combinations varied greatly between districts, cultivars and their associated viruses. The symptoms on leaf alone recorded the highest (32.2%) incidence, followed by roots (25.7%), leaf + stem (20.3%), leaf + root (10.4%), leaf + stem + root (5.2%), stem + root (3.7%), and stem (2.5%) symptoms. Analysis by RT-PCR showed that single infections of Ugandan cassava brown streak virus (UCBSV) were most common (74.2% of total infections) and associated with all the seven phenotypes studied. Single infections of Cassava brown streak virus (CBSV) were predominant (15.3% of total infections) in CBSD-affected plants showing symptoms on stems alone. Mixed infections (CBSV + UCBSV) comprised 10.5% of total infections and predominated in the combinations of leaf + stem + root phenotypes. Phylogenetic analysis and the estimates of evolutionary divergence, using partial sequences (210 nt) of the coat protein gene, revealed that in Rwanda there is one type of CBSV and an indication of diverse UCBSV. This study is the first to report the occurrence and distribution of both CBSV and UCBSV based on molecular techniques in Rwanda.

  17. Feline immunodeficiency virus: disease association versus causation in domestic and nondomestic felids.

    White, Joanna; Stickney, Alison; Norris, Jacqueline M

    2011-11-01

    Feline immunodeficiency virus (FIV) is an important infection in both domestic and nondomestic cats. Although many studies have provided insight into FIV pathophysiology and immunologic responses to infection in cats, questions remain regarding the association of FIV with specific disease syndromes. For many diseases, both association and causation of disease with FIV remain to be confirmed and clarified. The use of experimental infection models is unlikely to yield answers about naturally infected domestic cats and is not feasible in nondomestic felids, many of which are endangered species. Researches might consider further study of naturally occurring disease with an emphasis on confirming which diseases have a likely association with FIV.

  18. Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

    Erina N. Foster

    2005-01-01

    Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

  19. Grave's Disease and Primary Biliary Cirrhosis—An Unusual and Challenging Association

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2013-01-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial. PMID:25755537

  20. Bowen's Disease Associated With Two Human Papilloma Virus Types.

    Eftekhari, Hojat; Gharaei Nejad, Kaveh; Azimi, Seyyede Zeinab; Rafiei, Rana; Mesbah, Alireza

    2017-09-01

    Bowen's disease (BD) is an epidermal in-situ squamous cell carcinoma (SCC). Most Human Papilloma Viruses (HPV)-positive lesions in Bowen's disease are localized to the genital region or distal extremities (periungual sites) in which HPV type-16 is frequently detected. Patient was a 64-year-old construction worker for whom we detected 2 erythematous psoriasiform reticular scaly plaques on peri-umbilical and medial knee. Biopsy established the diagnosis of Bowen's disease and polymerase chain reaction assay showed HPV-6, -18 co-infection. Patient was referred for surgical excision.

  1. HIV-associated multicentric Castleman’s disease

    Fauzia de Fátima Naime

    2012-09-01

    Full Text Available Multicentric Castleman’s disease (MCD is a rare lymphoproliferative disorder. It is found with higher frequency in patients with HIV infection, with systemic symptoms and poor prognosis. We present the case of a 32-year old man with HIV disease, Kaposi’s sarcoma, lymphadenopathy, fever and hemolytic anemia. A diagnosis of Castleman’s disease is confirmed through biopsy and treatment is often based only on published case reports. Systemic treatments for MCD have included chemotherapy, anti-herpes virus, highly active antiretroviral therapy and, more recently, monoclonal antibodies against both IL6 and CD20.

  2. Periodontal disease and anemias associated with Crohn's disease. A case report.

    Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L

    2012-03-01

    Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.

  3. Diagnosing norovirus-associated infectious intestinal disease using viral load

    Tam Clarence C

    2009-05-01

    Full Text Available Abstract Background Reverse transcription-polymerase chain reaction (RT-PCR is the main method for laboratory diagnosis of norovirus-associated infectious intestinal disease (IID. However, up to 16% of healthy individuals in the community, with no recent history of IID, may be RT-PCR positive; so it is unclear whether norovirus is actually the cause of illness in an IID case when they are RT-PCR positive. It is important to identify the pathogen causing illness in sporadic IID cases, for clinical management and for community based incidence studies. The aim of this study was to investigate how faecal viral load can be used to determine when norovirus is the most likely cause of illness in an IID case. Methods Real-time RT-PCR was used to determine the viral load in faecal specimens collected from 589 IID cases and 159 healthy controls, who were infected with genogroup II noroviruses. Cycle threshold (Ct values from the real-time RT-PCR were used as a proxy measure of viral load. Receiver-operating characteristic (ROC analysis was used to identify a cut-off in viral load for attributing illness to norovirus in IID cases. Results One hundred and sixty-nine IID cases and 159 controls met the inclusion criteria for the ROC analysis. The optimal Ct value cut-off for attributing IID to norovirus was 31. The same cut-off was selected when using healthy controls, or IID cases who were positive by culture for bacterial pathogens, as the reference negative group. This alternative reference negative group can be identified amongst specimens routinely received in clinical virology laboratories. Conclusion We demonstrated that ROC analysis can be used to select a cut-off for a norovirus real time RT-PCR assay, to aid clinical interpretation and diagnose when norovirus is the cause of IID. Specimens routinely received for diagnosis in clinical virology laboratories can be used to select an appropriate cut-off. Individual laboratories can use this method to

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

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

    2015-01-01

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

  5. Fulminant transfusion-associated graft-versus-host disease in a premature infant

    Berger, R.S.; Dixon, S.L.

    1989-01-01

    A fatal case of transfusion-associated graft-versus-host disease developed in a premature infant after receiving several blood products, including nonirradiated white blood cells. Transfusion-associated graft-versus-host disease can be prevented. Irradiation of blood products is the least controversial and most effective method. Treatment was unsuccessful in most reported cases of transfusion-associated graft-versus-host disease. Therefore irradiation of blood products before transfusing to patients susceptible to transfusion-associated graft-versus-host disease is strongly recommended

  6. The Spectrum of Neurological Manifestations Associated with Gaucher Disease

    Tamanna Roshan Lal

    2017-03-01

    Full Text Available Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic, type 2 (acute neuronopathic, and type 3 (subacute neuronopathic. Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.

  7. Factors associated with gastro-duodenal disease in patients ...

    use two weeks preceding endoscopic analysis and patients with oesophageal disease were excluded from further study. Korle-Bu receives out-patient referrals from sever- al primary and specialist centres across Southern Ghana. One hundred ...

  8. Generalized Vitiligo Associated Autoimmune Diseases in Japanese Patients Their Families

    Tomohiko Narita

    2011-01-01

    Conclusions: Among Japanese vitiligo patients, there is a subgroup with strong evidence of genetically determined susceptibility to not only vitiligo, but also to autoimmune thyroid disease and other autoimmune disorders.

  9. Association of water-borne diseases morbidity pattern and water ...

    1Department of Env ronmental Management and Tox cology, Un vers ty of Agr culture, PMB 2240,. Abeokuta, Ogun .... and a modern sector) that has implications for ... plastered with cement. ..... residents are at–risk of water-borne diseases.

  10. The skin microbiome: Associations between altered microbial communities and disease.

    Weyrich, Laura S; Dixit, Shreya; Farrer, Andrew G; Cooper, Alan J; Cooper, Alan J

    2015-11-01

    A single square centimetre of the human skin can contain up to one billion microorganisms. These diverse communities of bacteria, fungi, mites and viruses can provide protection against disease, but can also exacerbate skin lesions, promote disease and delay wound healing. This review addresses the current knowledge surrounding the healthy skin microbiome and examines how different alterations to the skin microbial communities can contribute to disease. Current methodologies are considered, changes in microbial diversity and colonisation by specific microorganisms are discussed in the context of atopic dermatitis, psoriasis, acne vulgaris and chronic wounds. The recent impact of modern Westernised lifestyles on the human skin microbiome is also examined, as well as the potential benefits and pitfalls of novel therapeutic strategies. Further analysis of the human skin microbiome, and its interactions with the host immune system and other commensal microorganisms, will undoubtedly elucidate molecular mechanisms for disease and reveal gateways for novel therapeutic treatment strategies. © 2015 The Australasian College of Dermatologists.

  11. Screening of diseases associated with abnormal metabolites for ...

    Dina A. Ghoraba

    2013-12-09

    Dec 9, 2013 ... IEMs to evaluate the efficiency of HPLC in detecting abnormal metabolites in urine samples. ... the initial screening of organic acid disorders and many other disease ..... Although a chromatogram from a patient with gross.

  12. Factors associated with adequate weekly reporting for disease ...

    IDSR) strategy in 1998 to strengthen disease surveillance and epidemic response. However, the goal of weekly surveillance reporting among health facilities has not been achieved. We conducted a crosssectional study to determine the ...

  13. Annotating Diseases Using Human Phenotype Ontology Improves Prediction of Disease-Associated Long Non-coding RNAs.

    Le, Duc-Hau; Dao, Lan T M

    2018-05-23

    Recently, many long non-coding RNAs (lncRNAs) have been identified and their biological function has been characterized; however, our understanding of their underlying molecular mechanisms related to disease is still limited. To overcome the limitation in experimentally identifying disease-lncRNA associations, computational methods have been proposed as a powerful tool to predict such associations. These methods are usually based on the similarities between diseases or lncRNAs since it was reported that similar diseases are associated with functionally similar lncRNAs. Therefore, prediction performance is highly dependent on how well the similarities can be captured. Previous studies have calculated the similarity between two diseases by mapping exactly each disease to a single Disease Ontology (DO) term, and then use a semantic similarity measure to calculate the similarity between them. However, the problem of this approach is that a disease can be described by more than one DO terms. Until now, there is no annotation database of DO terms for diseases except for genes. In contrast, Human Phenotype Ontology (HPO) is designed to fully annotate human disease phenotypes. Therefore, in this study, we constructed disease similarity networks/matrices using HPO instead of DO. Then, we used these networks/matrices as inputs of two representative machine learning-based and network-based ranking algorithms, that is, regularized least square and heterogeneous graph-based inference, respectively. The results showed that the prediction performance of the two algorithms on HPO-based is better than that on DO-based networks/matrices. In addition, our method can predict 11 novel cancer-associated lncRNAs, which are supported by literature evidence. Copyright © 2018 Elsevier Ltd. All rights reserved.

  14. Big Data Analytics, Infectious Diseases and Associated Ethical Impacts

    Garattini, C.; Raffle, J.; Aisyah, D. N.; Sartain, F.; Kozlakidis, Z.

    2017-01-01

    The exponential accumulation, processing and accrual of big data in healthcare are only possible through an equally rapidly evolving field of big data analytics. The latter offers the capacity to rationalize, understand and use big data to serve many different purposes, from improved services modelling to prediction of treatment outcomes, to greater patient and disease stratification. In the area of infectious diseases, the application of big data analytics has introduced a number of changes ...

  15. Application of R to investigate common gene regulatory network pathway among bipolar disorder and associate diseases

    Nahida Habib

    2016-12-01

    Full Text Available Depression, Major Depression or mental disorder creates severe diseases. Mental illness such as Unipolar Major Depression, Bipolar Disorder, Dysthymia, Schizophrenia, Cardiovascular Diseases (Hypertension, Coronary Heart Disease, Stroke etc., are known as Major Depression. Several studies have revealed the possibilities about the association among Bipolar Disorder, Schizophrenia, Coronary Heart Diseases and Stroke with each other. The current study aimed to investigate the relationships between genetic variants in the above four diseases and to create a common pathway or PPI network. The associated genes of each disease are collected from different gene database with verification using R. After performing some preprocessing, mining and operations using R on collected genes, seven (7 common associated genes are discovered on selected four diseases (SZ, BD, CHD and Stroke. In each of the iteration, the numbers of collected genes are reduced up to 51%, 36%, 10%, 2% and finally less than 1% respectively. Moreover, common pathway on selected diseases has been investigated in this research.

  16. Buruli ulcer disease prevalence in Benin, West Africa: associations with land use/cover and the identification of disease clusters

    Wagner, Tyler; Benbow, M Eric; Brenden, Travis O; Qi, Jiaguo; Johnson, R Christian

    2008-01-01

    Background Buruli ulcer (BU) disease, caused by infection with the environmental mycobacterium M. ulcerans, is an emerging infectious disease in many tropical and sub-tropical countries. Although vectors and modes of transmission remain unknown, it is hypothesized that the transmission of BU disease is associated with human activities in or around aquatic environments, and that characteristics of the landscape (e.g., land use/cover) play a role in mediating BU disease. Several studies performed at relatively small spatial scales (e.g., within a single village or region of a country) support these hypotheses; however, if BU disease is associated with land use/cover characteristics, either through spatial constraints on vector-host dynamics or by mediating human activities, then large-scale (i.e., country-wide) associations should also emerge. The objectives of this study were to (1) investigate associations between BU disease prevalence in villages in Benin, West Africa and surrounding land use/cover patterns and other map-based characteristics, and (2) identify areas with greater and lower than expected prevalence rates (i.e., disease clusters) to assist with the development of prevention and control programs. Results Our landscape-based models identified low elevation, rural villages surrounded by forest land cover, and located in drainage basins with variable wetness patterns as being associated with higher BU disease prevalence rates. We also identified five spatial disease clusters. Three of the five clusters contained villages with greater than expected prevalence rates and two clusters contained villages with lower than expected prevalence rates. Those villages with greater than expected BU disease prevalence rates spanned a fairly narrow region of south-central Benin. Conclusion Our analyses suggest that interactions between natural land cover and human alterations to the landscape likely play a role in the dynamics of BU disease. For example, urbanization

  17. Associations between Potentially Modifiable Risk Factors and Alzheimer Disease : A Mendelian Randomization Study

    Ostergaard, Soren D.; Mukherjee, Shubhabrata; Sharp, Stephen J.; Proitsi, Petroula; Lotta, Luca A.; Day, Felix; Perry, John R. B.; Boehme, Kevin L.; Walter, Stefan; Kauwe, John S.; Gibbons, Laura E.; Larson, Eric B.; Powell, John F.; Langenberg, Claudia; Crane, Paul K.; Wareham, Nicholas J.; Scott, Robert A.; van der Schouw, YT

    Background Potentially modifiable risk factors including obesity, diabetes, hypertension, and smoking are associated with Alzheimer disease (AD) and represent promising targets for intervention. However, the causality of these associations is unclear. We sought to assess the causal nature of these

  18. Awareness of the association between periodontal disease and adverse pregnancy outcome among the general female population

    Fouzia Tarannum

    2015-01-01

    Conclusion: Younger and educated females had better awareness of the association between periodontal diseases and PTLBW. Hence, efforts to educate the general female population on this association could contribute toward the reduction of the risk of PTLBW.

  19. Automated Extraction Of Associations Between Methylated Genes and Diseases From Biomedical Literature

    Bin Res, Arwa A.

    2012-01-01

    . Based on this model, we developed a tool that automates extraction of associations between methylated genes and diseases from electronic text. Our study contributed an efficient method for extracting specific types of associations from free text

  20. Antiscience and ethical concerns associated with advocacy of Lyme disease.

    Auwaerter, Paul G; Bakken, Johan S; Dattwyler, Raymond J; Dumler, J Stephen; Halperin, John J; McSweegan, Edward; Nadelman, Robert B; O'Connell, Susan; Shapiro, Eugene D; Sood, Sunil K; Steere, Allen C; Weinstein, Arthur; Wormser, Gary P

    2011-09-01

    Advocacy for Lyme disease has become an increasingly important part of an antiscience movement that denies both the viral cause of AIDS and the benefits of vaccines and that supports unproven (sometimes dangerous) alternative medical treatments. Some activists portray Lyme disease, a geographically limited tick-borne infection, as a disease that is insidious, ubiquitous, difficult to diagnose, and almost incurable; they also propose that the disease causes mainly non-specific symptoms that can be treated only with long-term antibiotics and other unorthodox and unvalidated treatments. Similar to other antiscience groups, these advocates have created a pseudoscientific and alternative selection of practitioners, research, and publications and have coordinated public protests, accused opponents of both corruption and conspiracy, and spurred legislative efforts to subvert evidence-based medicine and peer-reviewed science. The relations and actions of some activists, medical practitioners, and commercial bodies involved in Lyme disease advocacy pose a threat to public health. Copyright © 2011 Elsevier Ltd. All rights reserved.

  1. Association between self-reported health and sociodemographic characteristics with cardiovascular diseases in adults

    Guilherme Oliveira de Arruda

    2015-02-01

    Full Text Available OBJECTIVE To assess the association of sociodemographic and self-rated health in the presence of cardiovascular diseases and the association of this perception with the type of disease. METHODS A cross-sectional population survey study carried out with 1,232 individuals aged between 20 and 59 years of both genders living in the metropolitan region of Maringá-PR. Data were analyzed using multiple and simple logistic regression. RESULTS In multivariate analysis, the age range and self-rated health were associated with cardiovascular disease, and in the univariate analysis self-rated regular health was associated with arterial hypertension, while self-rated poor health was associated to heart failure, stroke, and to acute myocardial infarction (heart attack. CONCLUSION The differences in association of self-rated health with these diseases can indicate how individuals with certain characteristics cope with the disease, allowing for more individualized and specific health care.

  2. Exploring the Association Between Rosacea and Parkinson Disease

    Egeberg, Alexander; Hansen, Peter Riis; Gislason, Gunnar H

    2016-01-01

    Importance: The pathogenesis of rosacea is unclear, but increased matrix metalloproteinase target tissue activity appears to play an important role. Parkinson disease and other neurodegenerative disorders also display increased matrix metalloproteinase activity that contribute to neuronal loss....... Objective: To investigate the risk of incident (new-onset) Parkinson disease in patients with rosacea. Design, Setting, and Participants: A nationwide cohort study of the Danish population was conducted using individual-level linkage of administrative registers. All Danish citizens 18 years or older from...... January 1, 1997, to December 31, 2011 (N = 5 472 745), were included. Data analysis was conducted from June 26 to July 27, 2015. Main Outcomes and Measures: The main outcome was a diagnosis of Parkinson disease. Incidence rates (IRs) per 10 000 person-years were calculated, and incidence rate ratios (IRRs...

  3. Human hereditary diseases associated with elevated frequency of chromosome aberrations

    Ejima, Yosuke

    1988-01-01

    Human recessive diseases collectively known as chromosome breakage syndromes include Fanconi's anemia, Bloom's syndrome and ataxia telangiectasia. Cells from these patients show chromosome instabilities both spontaneously and following treatments with radiations or certain chemicals, where defects in DNA metabolisms are supposed to be involved. Cells from patients with ataxia telangiectasia are hypersensitive to ionizing radiations, though DNA replication is less affected than in normal cells. Chromatid-type as well as chromosom-type aberrations are induced in cells irradiated in G 0 or G 1 phases. These unusual responses to radiations may provide clues for understanding the link between DNA replicative response and cellular radiosensitivity. Alterations in cellular radiosensitivity or spontaneous chromosome instabilities are observed in some patients with congenital chromosome anomalies or dominant diseases, where underlying defects may be different from those in recessive diseases. (author)

  4. Human hereditary diseases associated with elevated frequency of chromosome aberrations

    Ejima, Yosuke; Ikushima, Takaji (ed.)

    1988-07-01

    Human recessive diseases collectively known as chromosome breakage syndromes include Fanconi's anemia, Bloom's syndrome and ataxia telangiectasia. Cells from these patients show chromosome instabilities both spontaneously and following treatments with radiations or certain chemicals, where defects in DNA metabolisms are supposed to be involved. Cells from patients with ataxia telangiectasia are hypersensitive to ionizing radiations, though DNA replication is less affected than in normal cells. Chromatid-type as well as chromosom-type aberrations are induced in cells irradiated in G/sub 0/ or G/sub 1/ phases. These unusual responses to radiations may provide clues for understanding the link between DNA replicative response and cellular radiosensitivity. Alterations in cellular radiosensitivity or spontaneous chromosome instabilities are observed in some patients with congenital chromosome anomalies or dominant diseases, where underlying defects may be different from those in recessive diseases.

  5. HUMAN PAPILLOMA VIRUS. PREVENTION OF HPV-ASSOCIATED DISEASES

    F. C. Shakhtakhtinskaya

    2015-01-01

    Full Text Available High prevalence of sexually transmitted diseases among the population attracts attention of specialists in all countries due to frequent development of complications resulting in reproductive dysfunction. The article presents one of the urgent issues of modern medicine — papillomavirus infection, which is the most common sexually transmitted disease. 70–80% of the sexually active persons contract human papilloma virus at one point. HPV induces a broad range of oncological reproductive diseases, including cervical, vulvar, vaginal and anal cancer and anogenital condylomae, which are observed both in men and women. The only reliable method of preventing papillomavirus infection is vaccination. The authors present new data on the use of the quadrivalent vaccine, including a new immunization pattern for 9–14-years-old girls.

  6. Review on thymoma and thymoma-associated autoimmune diseases

    Yue-min LI

    2014-10-01

    Full Text Available Thymic carcinomas are tumors of the anterior mediastinum derived from the epithelial cells of the thymus gland. Malignancies linked to thymoma lead to the loss of self-tolerance leading to autoimmune diseases, including myasthenia gravis, pure red cell aplastic anemia, systemic lupus erythematosus and pemphigus etc. In recent years, three main mechanisms have been proposed to elucidate these interactions, such as immature T cell theory, tumor-gene theory and the combination mechanism of cellular and humoral immunity. In fact, the resection of the thymoma is beneficial to many patients of thymoma related autoimmune diseases. DOI: 10.11855/j.issn.0577-7402.2014.08.16

  7. Integration of Multiple Genomic and Phenotype Data to Infer Novel miRNA-Disease Associations.

    Shi, Hongbo; Zhang, Guangde; Zhou, Meng; Cheng, Liang; Yang, Haixiu; Wang, Jing; Sun, Jie; Wang, Zhenzhen

    2016-01-01

    MicroRNAs (miRNAs) play an important role in the development and progression of human diseases. The identification of disease-associated miRNAs will be helpful for understanding the molecular mechanisms of diseases at the post-transcriptional level. Based on different types of genomic data sources, computational methods for miRNA-disease association prediction have been proposed. However, individual source of genomic data tends to be incomplete and noisy; therefore, the integration of various types of genomic data for inferring reliable miRNA-disease associations is urgently needed. In this study, we present a computational framework, CHNmiRD, for identifying miRNA-disease associations by integrating multiple genomic and phenotype data, including protein-protein interaction data, gene ontology data, experimentally verified miRNA-target relationships, disease phenotype information and known miRNA-disease connections. The performance of CHNmiRD was evaluated by experimentally verified miRNA-disease associations, which achieved an area under the ROC curve (AUC) of 0.834 for 5-fold cross-validation. In particular, CHNmiRD displayed excellent performance for diseases without any known related miRNAs. The results of case studies for three human diseases (glioblastoma, myocardial infarction and type 1 diabetes) showed that all of the top 10 ranked miRNAs having no known associations with these three diseases in existing miRNA-disease databases were directly or indirectly confirmed by our latest literature mining. All these results demonstrated the reliability and efficiency of CHNmiRD, and it is anticipated that CHNmiRD will serve as a powerful bioinformatics method for mining novel disease-related miRNAs and providing a new perspective into molecular mechanisms underlying human diseases at the post-transcriptional level. CHNmiRD is freely available at http://www.bio-bigdata.com/CHNmiRD.

  8. Integration of Multiple Genomic and Phenotype Data to Infer Novel miRNA-Disease Associations.

    Hongbo Shi

    Full Text Available MicroRNAs (miRNAs play an important role in the development and progression of human diseases. The identification of disease-associated miRNAs will be helpful for understanding the molecular mechanisms of diseases at the post-transcriptional level. Based on different types of genomic data sources, computational methods for miRNA-disease association prediction have been proposed. However, individual source of genomic data tends to be incomplete and noisy; therefore, the integration of various types of genomic data for inferring reliable miRNA-disease associations is urgently needed. In this study, we present a computational framework, CHNmiRD, for identifying miRNA-disease associations by integrating multiple genomic and phenotype data, including protein-protein interaction data, gene ontology data, experimentally verified miRNA-target relationships, disease phenotype information and known miRNA-disease connections. The performance of CHNmiRD was evaluated by experimentally verified miRNA-disease associations, which achieved an area under the ROC curve (AUC of 0.834 for 5-fold cross-validation. In particular, CHNmiRD displayed excellent performance for diseases without any known related miRNAs. The results of case studies for three human diseases (glioblastoma, myocardial infarction and type 1 diabetes showed that all of the top 10 ranked miRNAs having no known associations with these three diseases in existing miRNA-disease databases were directly or indirectly confirmed by our latest literature mining. All these results demonstrated the reliability and efficiency of CHNmiRD, and it is anticipated that CHNmiRD will serve as a powerful bioinformatics method for mining novel disease-related miRNAs and providing a new perspective into molecular mechanisms underlying human diseases at the post-transcriptional level. CHNmiRD is freely available at http://www.bio-bigdata.com/CHNmiRD.

  9. Smoking is associated with extra-intestinal manifestations in inflammatory bowel disease

    M. Severs; S.J.H. van Erp; M.E. van der Valk (Mirthe); M.J.J. Mangen; M. Fidder (Melissa); M. van der Have (Mike); A.A. van Bodegraven (Ad); D.J. de Jong; C.J. van der Woude (Janneke); M. Romberg-Camps (Mariëlle); P.R. Clemens (Paula ); J.M. Jansen (Jeroen); P.C. van de Meeberg (Paul); N. Mahmmod (Nofel); C.Y. Ponsioen (Cyril); C. Bolwerkm; J.R. Vermeijden (J. Reinoud); M. Pierik (Marieke); P.D. Siersema (Peter); M. Leenders (Max); A.E. van der Meulen-de Jong (Andrea); G. Dijkstra (Gerard); B. Oldenburg (Bas)

    2016-01-01

    textabstractBackground and aims: Smoking affects the course of disease in patients with ulcerative colitis (UC) and Crohn's disease (CD). We aimed to study the association between smoking and extraintestinal manifestations (EIMs) in inflammatory bowel disease (IBD). Methods: We cross-sectionally

  10. Smoking is Associated With Extra-intestinal Manifestations in Inflammatory Bowel Disease

    Severs, M.; Erp, S.J. van; Valk, M.E. van der; Mangen, M.J.; Fidder, H.H.; Have, M. van der; Bodegraven, A.A. van; Jong, D.J. de; Woude, C.J. van der; Romberg-Camps, M.J.; Clemens, C.H.; Jansen, J.M.; Meeberg, P.C. van de; Mahmmod, N.; Ponsioen, C.Y.; Bolwerk, C.; Vermeijden, J.R.; Pierik, M.J.; Siersema, P.D.; Leenders, M.; Meulen-Jong, A.E. van der; Dijkstra, G.; Oldenburg, B.

    2016-01-01

    BACKGROUND AND AIMS: Smoking affects the course of disease in patients with ulcerative colitis (UC) and Crohn's disease (CD). We aimed to study the association between smoking and extra-intestinal manifestations (EIMs) in inflammatory bowel disease (IBD). METHODS: We cross-sectionally explored the

  11. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

    Khor, Chiea Chuen; Davila, Sonia; Breunis, Willemijn B.; Lee, Yi-Ching; Shimizu, Chisato; Wright, Victoria J.; Yeung, Rae S. M.; Tan, Dennis E. K.; Sim, Kar Seng; Wang, Jie Jin; Wong, Tien Yin; Pang, Junxiong; Mitchell, Paul; Cimaz, Rolando; Dahdah, Nagib; Cheung, Yiu-Fai; Huang, Guo-Ying; Yang, Wanling; Park, In-Sook; Lee, Jong-Keuk; Wu, Jer-Yuarn; Levin, Michael; Burns, Jane C.; Burgner, David; Kuijpers, Taco W.; Hibberd, Martin L.; Lau, Yu-Lung; Zhang, Jing; Ma, Xiao-Jing; Liu, Fang; Wu, Lin; Yoo, Jeong-Jin; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Park, Young-Mi; Mi Hong, Young; Sohn, Sejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Weon Yun, Sin; Ki Han, Myung; Lee, Kyung-Yil; Hwang, Ja-Young; Kuipers, Irene M.; Ottenkamp, Jaap J.; Biezeveld, Maarten; Tacke, Carline

    2011-01-01

    Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from

  12. A novel missense Norrie disease mutation associated with a severe ocular phenotype.

    Khan, Arif O; Shamsi, Farrukh A; Al-Saif, Amr; Kambouris, Marios

    2004-01-01

    Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.

  13. Shared molecular and cellular mechanisms of premature ageing and ageing-associated diseases.

    Kubben, Nard; Misteli, Tom

    2017-10-01

    Ageing is the predominant risk factor for many common diseases. Human premature ageing diseases are powerful model systems to identify and characterize cellular mechanisms that underpin physiological ageing. Their study also leads to a better understanding of the causes, drivers and potential therapeutic strategies of common diseases associated with ageing, including neurological disorders, diabetes, cardiovascular diseases and cancer. Using the rare premature ageing disorder Hutchinson-Gilford progeria syndrome as a paradigm, we discuss here the shared mechanisms between premature ageing and ageing-associated diseases, including defects in genetic, epigenetic and metabolic pathways; mitochondrial and protein homeostasis; cell cycle; and stem cell-regenerative capacity.

  14. Lipoprotein Apheresis for Lipoprotein(a)-Associated Cardiovascular Disease

    Roeseler, Eberhard; Julius, Ulrich; Heigl, Franz

    2016-01-01

    OBJECTIVE: Lipoprotein(a)-hyperlipoproteinemia (Lp(a)-HLP) along with progressive cardiovascular disease has been approved as indication for regular lipoprotein apheresis (LA) in Germany since 2008. We aimed to study the long-term preventive effect of LA and to assess hypothetical clinical correl...

  15. Associations between Eating Competence and Cardiovascular Disease Biomarkers

    Psota, Tricia L.; Lohse, Barbara; West, Sheila G.

    2007-01-01

    Objective: Explore the relationship between eating competence (EC) and biomarkers of risk for cardiovascular disease (CVD). Design: Secondary analysis of data collected for a larger, 2-way crossover clinical trial. Setting: Outpatient clinical research center. Participants: Forty-eight hypercholesterolemic (LDL cholesterol [greater than or equal]…

  16. Association between diverticular disease and Ehlers-Danlos syndrome

    Leganger, Julie; Søborg, Marie-Louise Kulas; Mortensen, Laura Quitzau

    2016-01-01

    Purpose: The aim of this study was to examine occurrence and consequences of diverticular disease in patients with Ehlers-Danlos syndrome (EDS) compared with a matched cohort.  Methods: This nationwide population-based cohort study was conducted using data from medical registers in Denmark from...

  17. Fungi associated with base rot disease of aloe vera (Aloe ...

    STORAGESEVER

    2008-12-17

    Dec 17, 2008 ... full base rot disease after 6 days of inoculation. Key words: Fungi, base rot, Aloe vera. INTRODUCTION. Aloe barbadensis Miller, popularly called Aloe vera is a phanerogame angiosperm which belongs to the family. Liliaceae. The plant is a perennial drought resistant succulent plant (Figure 1). Aloe vera is ...

  18. Diseases of the nervous system associated with calcium channelopathies

    Todorov, Boyan Bogdanov

    2010-01-01

    The aim of the studies described in this thesis was to investigate how abnormal CaV2.1 channel function can cause disease, in particular motor coordination dysfunction. The chapters illustrate how various neuronal cell types in the periphery (peripheral nervous system) and the central nervous system

  19. RAPD markers associated with resistance to blackleg disease in ...

    Blackleg, caused by Leptosphaeria maculans, is a serious disease of Brassica species. Genetic analysis of resistance to L. maculans was carried out with 15 accessions from the USDA Brassica germplasm collections, representing diploids (A, C), and tetraploid (AC) genomes, respectively; and 9 cultivars from the National ...

  20. Race and Association With Disease Manifestations and Mortality in Scleroderma

    Manno, Rebecca L.; Shah, Ami A.; Woods, Adrianne; Le, Elizabeth N.; Boin, Francesco; Hummers, Laura K.; Wigley, Fredrick M.

    2013-01-01

    Abstract Experience suggests that African Americans may express autoimmune disease differently than other racial groups. In the context of systemic sclerosis (scleroderma), we sought to determine whether race was related to a more adverse expression of disease. Between January 1, 1990, and December 31, 2009, a total of 409 African American and 1808 white patients with scleroderma were evaluated at a single university medical center. While the distribution by sex was virtually identical in both groups, at 82% female, African American patients presented to the center at a younger mean age than white patients (47 vs. 53 yr; p scleroderma-specific autoantibody status, and for the socioeconomic measures of educational attainment and health insurance status, diminished these risk estimates (RR, 1.3; 95% CI, 1.0–1.6). The heightened risk of mortality persisted in strata defined by age at disease onset, diffuse cutaneous disease, anticentromere seropositivity, decade of care at the center, and among women. These findings support the notion that race is related to a distinct phenotypic profile in scleroderma, and a more unfavorable prognosis among African Americans, warranting heightened diagnostic evaluation and vigilant care of these patients. Further, we provide a chronologic review of the literature regarding race, organ system involvement, and mortality in scleroderma; we furnish synopses of relevant reports, and summarize findings. PMID:23793108

  1. Mixed connective tissue disease associated with noted pulmonary CT findings

    Yamazaki, Souji; Tsukada, Atsuko; Furuya, Tatsutaka

    1984-10-01

    CT was performed in a 56-year-old woman with mixed connective tissue disease (MCTD). Much more definitive pulmonary findings were obtained by CT than by the conventional chest x-ray examination and pulmonary function test. CT findings disclosed pulmonary lesions extremely similar to those in cases of progressive systemic sclerosis. Pulmonary CT was considered useful in examining pulmonary lesions for MCTD.

  2. Myasthenia Gravis Associated With Autoimmune Thyroid Disease: A ...

    Myasthenia gravis (MG) is an acquired autoimmune disorder causing skeletal muscle fatigue and weakness. This is a report of one woman and her daughter presenting with myasthenia and gravis and Grave\\'s disease. It highlights possible hereditary component of this condition which has not been commonly reported in ...

  3. Association Between Finger Clubbing and Chronic Lung Disease in ...

    Finger clubbed patients had higher risk of hypoxemia (46.7%), pulmonary hypertension (46.7%) and advanced disease in WHO stage III/ IV (91.7%) compared to non-finger clubbed patients. Finger clubbed patients had lower CD4 cells count and percentage (median 369cells, 13%) compared to non-clubbed patients ...

  4. Exudative pleural effusion associated with Behcet's disease | Ikuabe ...

    Background: Behcet's disease is a rare immune mediated small vessel systemic vasculitis in which diagnosis is mainly clinical and requires the presence of recurrent oral ulcers and at least two additional criteria that includes recurrent mouth and genital ulcers, skin lesions, eye inflammation (uveitis) and a positive pathergy ...

  5. What can we learn from the microbial ecological interactions associated with polymicrobial diseases?

    Antiabong, J F; Boardman, W; Ball, A S

    2014-03-15

    Periodontal diseases in humans and animals are model polymicrobial diseases which are associated with a shift in the microbial community structure and function; there is therefore a need to investigate these diseases from a microbial ecological perspective. This review highlights three important areas of microbial ecological investigation of polymicrobial diseases and the lessons that could be learnt: (1) identification of disease-associated microbes and the implications for choice of anti-infective treatment; (2) the implications associated with vaccine design and development and (3) application of the dynamics of microbial interaction in the discovery of novel anti-infective agents. This review emphasises the need to invigorate microbial ecological approaches to the study of periodontal diseases and other polymicrobial diseases for greater understanding of the ecological interactions between and within the biotic and abiotic factors of the environment. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. Associative working memory and subsequent episodic memory in Alzheimer's disease.

    Geldorp, B. van; Konings, E.P.; Tilborg, I.A. Van; Kessels, R.P.C.

    2012-01-01

    Recent studies indicate deficits in associative working memory in patients with medial-temporal lobe amnesia. However, it is unclear whether these deficits reflect working memory processing or are due to hippocampally mediated long-term memory impairment. We investigated associative working memory

  7. Associative working memory and subsequent episodic memory in Alzheimer's disease

    Geldorp, B. van; Konings, E.P.C.; Tilborg, I.A.D.A. van; Kessels, R.P.C.

    2012-01-01

    Recent studies indicate deficits in associative working memory in patients with medial-temporal lobe amnesia. However, it is unclear whether these deficits reflect working memory processing or are due to hippocampally mediated long-term memory impairment. We investigated associative working memory

  8. Genome-wide associations for birth weight and correlations with adult disease

    Horikoshi, Momoko; Beaumont, Robin N; Day, Felix R

    2016-01-01

    Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been...

  9. Genome-wide associations for birth weight and correlations with adult disease

    M. Horikoshi (Momoko); Beaumont, R.N. (Robin N.); F.R. Day (Felix); N.M. Warrington (Nicole); M.N. Kooijman (Marjolein ); J. Fernandez-Tajes (Juan); B. Feenstra (Bjarke); N.R. Van Zuydam (Natalie R.); K. Gaulton (Kyle); N. Grarup (Niels); J.P. Bradfield (Jonathan); D.P. Strachan (David); Li-Gao, R. (Ruifang); T.S. Ahluwalia (Tarunveer Singh); Kreiner, E. (Eskil); Rueedi, R. (Rico); L.-P. Lyytikäinen (Leo-Pekka); D.L. Cousminer (Diana); Y. Wu (Ying); E. Thiering (Elisabeth); C.A. Wang (Carol A.); C.T. Have (Christian T.); J.J. Hottenga (Jouke Jan); N. Vilor-Tejedor (Natàlia); P.K. Joshi (Peter); Boh, E.T.H. (Eileen Tai Hui); I. Ntalla (Ioanna); N. Pitkanen (Niina); A. Mahajan (Anubha); E.M. van Leeuwen (Elisa); R. Joro (Raimo); V. Lagou (Vasiliki); M. Nodzenski (Michael); Diver, L.A. (Louise A.); K.T. Zondervan (Krina); M. Bustamante (Mariona); P. Marques-Vidal (Pedro); J.M. Mercader (Josep); A.J. Bennett (Amanda); N. Rahmioglu (Nilufer); D.R. Nyholt (Dale); Ma, R.C.W. (Ronald C. W.); Tam, C.H.T. (Claudia H. T.); Tam, W.H. (Wing Hung); S.K. Ganesh (Santhi); F.J.A. van Rooij (Frank); S.E. Jones (Samuel E.); P.-R. Loh (Po-Ru); K.S. Ruth (Katherine S.); Tuke, M.A. (Marcus A.); A.W.R. Tyrrell; A.R. Wood (Andrew); H. Yaghootkar (Hanieh); D.M. Scholtens (Denise M.); L. Paternoster (Lavinia); I. Prokopenko (Inga); P. Kovacs (Peter); M. Atalay (Mustafa); S.M. Willems (Sara); Panoutsopoulou, K. (Kalliope); X. Wang (Xu); L. Carstensen (Lisbeth); F. Geller (Frank); Schraut, K.E. (Katharina E.); M. Murcia (Mario); C.E.M. van Beijsterveldt (Toos); G.A.H.M. Willemsen (Gonneke); Appel, E.V.R. (Emil V. R.); Fonvig, C.E. (Cilius E.); Trier, C. (Caecilie); Tiesler, C.M.T. (Carla M. T.); E. Standl (Eberhard); Z. Kutalik (Zoltán); S. Bonàs-Guarch (Silvia); D.M. Hougaard (David); Sánchez, F. (Friman); D. Torrents (David); J. Waage (Johannes); M.V. Hollegaard (Mads V); H.G. De Haan (Hugoline G.); F.R. Rosendaal (Frits); Medina-Gomez, C. (Carolina); S.M. Ring (Susan); G. Hemani; G. Mcmahon (George); N.R. Robertson (Neil); C.J. Groves (Christopher); C. Langenberg (Claudia); J. Luan (Jian'An); R.A. Scott (Robert); J.H. Zhao (Jing Hua); F.D. Mentch (Frank); MacKenzie, S.M. (Scott M.); R.M. Reynolds (Rebecca); W.L. Lowe Jr. (William); A. Tönjes (Anke); M. Stumvoll (Michael); V. Lindi (Virpi); T.A. Lakka (Timo); C.M. van Duijn (Cornelia); W. Kieß (Wieland); A. KöRner (Antje); T.I.A. Sørensen (Thorkild); Niinikoski, H. (Harri); K. Pahkala (Katja); Raitakari, O.T. (Olli T.); E. Zeggini (Eleftheria); G.V. Dedoussis (George); Y.Y. Teo (Yik Ying); Saw, S.-M. (Seang-Mei); M. Melbye (Mads); H. Campbell (Harry); J.F. Wilson (James F.); M. Vrijheid (Martine); E.J.C. de Geus (Eco); D.I. Boomsma (Dorret); H.N. Kadarmideen (Haja N.); J.-C. Holm (Jens-Christian); T. Hansen (T.); S. Sebert (Sylvain); A.T. Hattersley (Andrew); L.J. Beilin (Lawrence); J.P. Newnham (John); C.E. Pennell (Craig); J. Heinrich (Joachim); L.S. Adair (Linda); J.B. Borja (Judith); K.L. Mohlke (Karen); K. Hagen (Knut); E. Widen (Elisabeth); M. Kähönen (Mika); J. Viikari (Jorma); T. Lehtimäki (Terho); P. Vollenweider (Peter); K. Bønnelykke (Klaus); H. Bisgaard (Hans); D.O. Mook-Kanamori (Dennis); Hofman, A. (Albert); F. Rivadeneira Ramirez (Fernando); A.G. Uitterlinden (André); Pisinger, C. (Charlotta); O. Pedersen (Oluf); C. Power (Christopher); E. Hypponen (Elina); N.J. Wareham (Nick); H. Hakonarson (Hakon); Davies, E. (Eleanor); Walker, B.R. (Brian R.); V.W.V. Jaddoe (Vincent); M.-R. Jarvelin (Marjo-Riitta); S.F.A. Grant (Struan); Vaag, A.A. (Allan A.); D.A. Lawlor (Debbie); T.M. Frayling (Timothy); G.D. Smith; A.P. Morris (Andrew); K.K. Ong (Ken); J.F. Felix (Janine); N.J. Timpson (Nicholas); J.R.B. Perry (John); D.M. Evans (David); M.I. McCarthy (Mark); R.M. Freathy (Rachel)

    2016-01-01

    textabstractBirth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease1. These lifecourse associations have often

  10. 75 FR 70162 - Presumptive Service Connection for Diseases Associated With Persian Gulf War Service: Functional...

    2010-11-17

    ... Diseases Associated With Persian Gulf War Service: Functional Gastrointestinal Disorders AGENCY: Department... theater of operations during the Persian Gulf War. DATES: Comments must be received by VA on or before... Service Connection for Diseases Associated With Persian Gulf War Service: Functional Gastrointestinal...

  11. Association of plasma uric acid with ischaemic heart disease and blood pressure

    Palmer, Tom M; Nordestgaard, Børge G; Benn, Marianne

    2013-01-01

    To assess the associations between both uric acid levels and hyperuricaemia, with ischaemic heart disease and blood pressure, and to explore the potentially confounding role of body mass index.......To assess the associations between both uric acid levels and hyperuricaemia, with ischaemic heart disease and blood pressure, and to explore the potentially confounding role of body mass index....

  12. Involvement of interleukin-1 genotypes in the association of coronary heart disease with periodontitis

    Geismar, Karen; Enevold, Christian; Sørensen, Lars Korsbæk

    2008-01-01

    Epidemiologic studies demonstrated an association between periodontitis (PE) and coronary heart disease (CHD). The coexistence of the two disease entities could be dependent on mutual risk factors, and polymorphism of the interleukin (IL)-1 gene cluster associated with the severity of PE might also...

  13. Associations between DSM-IV mental disorders and subsequent heart disease onset : Beyond depression

    Scott, Kate M.; de Jonge, Peter; Alonso, Jordi; Viana, Maria Carmen; Liu, Zhaorui; O'Neill, Siobhan; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Stein, Dan J.; de Girolamo, Giovanni; Florescu, Silvia E.; Hu, Chiyi; Taib, Nezar Ismet; Lepine, Jean-Pierre; Levinson, Daphna; Matschinger, Herbert; Elena Medina-Mora, Maria; Piazza, Marina; Posada-Villa, Jose A.; Uda, Hidenori; Wojtyniak, Bogdan J.; Lim, Carmen C. W.; Kessler, Ronald C.

    2013-01-01

    Background: Prior studies on the depression-heart disease association have not usually used diagnosticmeasures of depression, or taken other mental disorders into consideration. As a result, it is not clear whether the association between depression and heart disease onset reflects a specific

  14. Ethnicity and association with disease manifestations and mortality in Behçet's disease.

    Savey, Lea; Resche-Rigon, Mathieu; Wechsler, Bertrand; Comarmond, Cloé; Piette, Jean Charles; Cacoub, Patrice; Saadoun, David

    2014-03-27

    Behçet's disease (BD) significantly increases morbidity and mortality. BD mainly affects young adults with a peculiar geographical distribution. It has been suggested that BD varies in its phenotypic expression in different ethnic groups. We investigated potential ethnicity-related differences relative to phenotype and prognosis of BD patients in a French multiethnic country. We included 769 consecutive patients fulfilling the international criteria of classification for BD, in the 3 largest ethnic groups of our cohort [European (n = 369), North African (n = 350) and sub Saharan African (n = 50)]. Factors that affect prognosis were assessed by multivariate analysis. 535 (69.6%) patients were male and the median (IQR) age at diagnosis was of 30.9 (24.9-37.2) years. Sub Saharan African BD patients had a higher frequency of CNS involvement (48% vs 32.3% vs 29.5%, p = 0 .035), a higher rate of death (12% vs 6% vs 3.5%, p = 0.029) and a lower frequency of HLA B51 allele (29.4% vs 49.2% vs 55.8%, p = 0.009) compared to those from North Africa and Europe, respectively. Multivariate analysis showed that male gender (HR: 5.01, CI: 1.51-16.65), cardiovascular involvement (HR: 2.24, CI: 1.15-4.36), and sub Saharan African origin (HR 2.62 (0.98-6.97) were independently associated with mortality. The 15-year mortality rate was of 19%, 9% and 6% in sub Saharan African, North African and European BD patients, respectively (p = 0.015). We reported ethnicity-related differences with respect to phenotype of BD. Sub Saharan Africans patients exhibited a worse prognosis.

  15. DISEASES

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  16. The association of pioglitazone and urinary tract disease in type 2 diabetic Taiwanese: bladder cancer and chronic kidney disease.

    Mei-Yueh Lee

    Full Text Available OBJECTIVE: Although studies have shown an association between pioglitazone and bladder cancer, the associated factors have not been identified. The aim of this study was to investigate the factors that may link pioglitazone to bladder cancer. MATERIALS AND METHODS: In total, 34,970 study subjects were identified from the National Health Insurance Research Database in 2003 with follow-up from 2005 to 2009. The demographic characteristics of patients who had used and had never used pioglitazone, including age, sex, diabetes duration, urinary tract disease, nephropathy, bladder cancer, and cumulative dose and duration of pioglitazone therapy, were analyzed using the χ2 test. Cox proportional hazard regression models were used to determine the independent effects of pioglitazone on bladder cancer and newly developed chronic kidney disease. RESULTS: Among 3,497 ever users and 31,473 never users of pioglitazone, the respective incident cases of bladder cancer were 12 (0.4% and 72 (0.2%, and for newly developed chronic kidney disease 245 (8.1% and 663 (2.3%, respectively. Ever use of pioglitazone [1.59(1.32-1.91], cumulative dose of pioglitazone 10,500 mg [1.34 (1.04-1.73], and duration of therapy 12 months [1.39 (1.09-1.76] were associated with the development of chronic kidney disease. CONCLUSIONS: There was no association of pioglitazone use with bladder cancer development, however, there was an association with an increased risk of newly developed chronic kidney disease.

  17. Molecular Mechanism of Adult Neurogenesis and its Association with Human Brain Diseases

    He Liu

    2016-01-01

    Full Text Available Recent advances in neuroscience challenge the old dogma that neurogenesis occurs only during embryonic development. Mounting evidence suggests that functional neurogenesis occurs throughout adulthood. This review article discusses molecular factors that affect adult neurogenesis, including morphogens, growth factors, neurotransmitters, transcription factors, and epigenetic factors. Furthermore, we summarize and compare current evidence of associations between adult neurogenesis and human brain diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and brain tumors.

  18. Platelet count is associated with cardiovascular disease, cancer and mortality

    Vinholt, P J; Hvas, A M; Frederiksen, H

    2016-01-01

    count (100-450×10(9)/L) and mortality, development of future cardiovascular disease (myocardial infarction, ischaemic stroke, or peripheral vascular disease), venous thromboembolism, bleeding or cancer in the general population. MATERIAL AND METHODS: We conducted a register-based cohort study of 21......,252 adults (≥20years) from the Danish General Suburban Population Study (GESUS). Laboratory results from GESUS were linked to information from national registers regarding morbidity and death. Cox proportional hazard regression was conducted with adjustment for age, sex, smoking status, haemoglobin......, leukocyte count, C-reactive protein and Charlson comorbidity index. RESULTS: We found a U-shaped relationship between mortality and platelet count. Mortality was significantly increased for platelet count 300×10(9)/L. When categorizing platelet count using the interval 201-250×10(9)/L...

  19. REM Behaviour Disorder Detection Associated with Neurodegerative Diseases

    Kempfner, Jacob; Sørensen, Gertrud Laura; Zoetmulder, Marielle

    2010-01-01

    Abnormal skeleton muscle activity during REM sleep is characterized as REM Behaviour Disorder (RBD), and may be an early marker for different neurodegenerative diseases. Early detection of RBD is therefore highly important, and in this ongoing study a semi-automatic method for RBD detection...... is proposed by analyzing the motor activity during sleep. Method: A total number of twelve patients have been involved in this study, six normal controls and six patients diagnosed with Parkinsons Disease (PD) with RBD. All subjects underwent at least one ambulant polysomnographic (PSG) recording. The sleep...... recordings were scored, according to the new sleep-scoring standard from the American Academy of Sleep Medicine, by two independent sleep specialists. A follow-up analysis of the scoring consensus between the two specialists has been conducted. Based on the agreement of the two manual scorings...

  20. Septated pericarditis associated with Kawasaki disease: a brief case report.

    Sonçaği, Arzu; Devrim, Ilker; Karagöz, Tevfik; Dilber, Embiya; Celiker, Alpay; Ozen, Seza; Seçmeer, Gülten

    2007-01-01

    Kawasaki disease (KD) is primarily the systemic vasculitis of childhood that affects mainly the medium-sized arteries, such as the coronary arteries. KD is the leading cause of acquired heart disease, whereas the incidence of rheumatic fever has declined. The most serious complication is coronary artery involvement. Among the children with KD who developed cardiac complications, pericarditis is a rare complication, with an incidence of 0.07%. We report our experience in a 5.5-year-old child with KD complicated with aneurysm of the left anterior descendant coronary artery and septated pericardial effusion, which has not been reported in the literature. The pericardial effusion disappeared very dramatically with intravenous immunoglobulin (IVIG) therapy. We would like to point out that septated pericardial effusion in cases of KD do not need any further therapy other than IVIG and high-dose acetylsalicylic acid.

  1. LDAP: a web server for lncRNA-disease association prediction.

    Lan, Wei; Li, Min; Zhao, Kaijie; Liu, Jin; Wu, Fang-Xiang; Pan, Yi; Wang, Jianxin

    2017-02-01

    Increasing evidences have demonstrated that long noncoding RNAs (lncRNAs) play important roles in many human diseases. Therefore, predicting novel lncRNA-disease associations would contribute to dissect the complex mechanisms of disease pathogenesis. Some computational methods have been developed to infer lncRNA-disease associations. However, most of these methods infer lncRNA-disease associations only based on single data resource. In this paper, we propose a new computational method to predict lncRNA-disease associations by integrating multiple biological data resources. Then, we implement this method as a web server for lncRNA-disease association prediction (LDAP). The input of the LDAP server is the lncRNA sequence. The LDAP predicts potential lncRNA-disease associations by using a bagging SVM classifier based on lncRNA similarity and disease similarity. The web server is available at http://bioinformatics.csu.edu.cn/ldap jxwang@mail.csu.edu.cn. Supplementary data are available at Bioinformatics online.

  2. Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

    Koplay, Mustafa; Onbas, Omer; Alper, Fatih; Borekci, Bunyamin

    2009-01-01

    Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling

  3. Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

    Koplay, Mustafa [Ergani Status Hospital, Diyarbakir (Turkmenistan); Onbas, Omer; Alper, Fatih; Borekci, Bunyamin [Ataturk University, Erzurum (Turkmenistan)

    2009-06-15

    Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling.

  4. Mixed connective tissue disease associated with noted pulmonary CT findings

    Yamazaki, Souji; Tsukada, Atsuko; Furuya, Tatsutaka

    1984-01-01

    CT was performed in a 56-year-old woman with mixed connective tissue disease (MCTD). Much more definitive pulmonary findings were obtained by CT than by the conventional chest x-ray examination and pulmonary function test. CT findings disclosed pulmonary lesions extremely similar to those in cases of progressive systemic sclerosis. Pulmonary CT was considered useful in examining pulmonary lesions for MCTD. (Namekawa, K.)

  5. Reversal of intestinal failure-associated liver disease (IFALD)

    Hvas, Christian; Kodjabashia, Kamelia; Nixon, Emma

    2016-01-01

    in an adult patient with IF secondary to severe Crohn's disease and multiple small bowel resections. The patient developed liver dysfunction and pathology consistent with IFALD. Multiple causal factors were implicated, including nutrition-related factors, catheter sepsis and the use of hepatotoxic medications....... Multidisciplinary treatment in a tertiary IF referral centre included aggressive sepsis management, discontinuation of hepatotoxic medications and a reduction of parenteral nutrition dependency through optimisation of enteral nutrition via distal enteral tube feeding. Upon this, liver function tests normalised....

  6. Laryngeal lipoma associated with Madelung's disease: a case report.

    Landínez-Cepeda, Guillermo Arturo; Alarcos-Tamayo, Emilio V; Millás-Gómez, Teresa; Morais-Pérez, Darío

    2012-01-01

    Multiple symmetric lipomatosis is an alteration in the neck, upper trunk and upper extremities fat deposits. It produces an aesthetic problem and sometimes upper airway obstruction when the larynx is infiltrated by the mass. We report the case of a male with Madelung's disease, which began with acute dyspnea caused by laryngeal fat deposits and obstructive lipoma. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  7. CD36 gene polymorphism is associated with Alzheimer's disease

    Šerý, Omar; Janoutová, J.; Ewerlingová, Laura; Hálová, Alice; Lochman, J.; Janout, V.; Khan, N. A.; Balcar, Vladimír Josef

    2017-01-01

    Roč. 135, č. 1 (2017), s. 46-53 ISSN 0300-9084 Institutional support: RVO:67985904 Keywords : polymorphism * association * CD36 Subject RIV: FH - Neurology OBOR OECD: Neurosciences (including psychophysiology Impact factor: 3.112, year: 2016

  8. Associations between DSM-IV mental disorders and subsequent heart disease onset: beyond depression

    Scott, Kate M.; de Jonge, Peter; Alonso, Jordi; Viana, Maria Carmen; Liu, Zhaorui; O’Neill, Siobhan; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Stein, Dan J.; de Girolamo, Giovanni; Florescu, Silvia E.; Hu, Chiyi; Taib, Nezar Ismet; Lépine, Jean-Pierre; Levinson, Daphna; Matschinger, Herbert; Medina-Mora, Maria Elena; Piazza, Marina; Posada-Villa, José A.; Uda, Hidenori; Wojtyniak, Bogdan J.; Lim, Carmen C. W.; Kessler, Ronald C.

    2013-01-01

    Background Prior studies on the depression-heart disease association have not usually used diagnostic measures of depression, nor taken other mental disorders into consideration. As a result, it is not clear whether the association between depression and heart disease onset reflects a specific association, or the comorbidity between depression and other mental disorders. Additionally, the relative magnitude of associations of a range of mental disorders with heart disease onset is unknown. Methods Face-to-face household surveys were conducted in 19 countries (n=52,095; person years=2,141,194). The Composite International Diagnostic Interview retrospectively assessed lifetime prevalence and age at onset of 16 DSM-IV mental disorders. Heart disease was indicated by self-report of physician’s diagnosis, or self-report of heart attack, together with their timing (year). Survival analyses estimated associations between first onset of mental disorders and subsequent heart disease onset. Results After comorbidity adjustment, depression, panic disorder, specific phobia, post-traumatic stress disorder and alcohol use disorders were associated with heart disease onset (ORs 1.3–1.6). Increasing number of mental disorders was associated with heart disease in a dose-response fashion. Mood disorders and alcohol abuse were more strongly associated with earlier onset than later onset heart disease. Associations did not vary by gender. Conclusions Depression, anxiety and alcohol use disorders were significantly associated with heart disease onset; depression was the weakest predictor. If confirmed in future prospective studies, the breadth of psychopathology’s links with heart disease onset has substantial clinical and public health implications. PMID:23993321

  9. Associations between DSM-IV mental disorders and subsequent heart disease onset: beyond depression.

    Scott, Kate M; de Jonge, Peter; Alonso, Jordi; Viana, Maria Carmen; Liu, Zhaorui; O'Neill, Siobhan; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Stein, Dan J; de Girolamo, Giovanni; Florescu, Silvia E; Hu, Chiyi; Taib, Nezar Ismet; Lépine, Jean-Pierre; Levinson, Daphna; Matschinger, Herbert; Medina-Mora, Maria Elena; Piazza, Marina; Posada-Villa, José A; Uda, Hidenori; Wojtyniak, Bogdan J; Lim, Carmen C W; Kessler, Ronald C

    2013-10-15

    Prior studies on the depression-heart disease association have not usually used diagnostic measures of depression, or taken other mental disorders into consideration. As a result, it is not clear whether the association between depression and heart disease onset reflects a specific association, or the comorbidity between depression and other mental disorders. Additionally, the relative magnitude of associations of a range of mental disorders with heart disease onset is unknown. Face-to-face household surveys were conducted in 19 countries (n=52,095; person years=2,141,194). The Composite International Diagnostic Interview retrospectively assessed lifetime prevalence and age at onset of 16 DSM-IV mental disorders. Heart disease was indicated by self-report of physician's diagnosis, or self-report of heart attack, together with their timing (year). Survival analyses estimated associations between first onset of mental disorders and subsequent heart disease onset. After comorbidity adjustment, depression, panic disorder, specific phobia, post-traumatic stress disorder and alcohol use disorders were associated with heart disease onset (ORs 1.3-1.6). Increasing number of mental disorders was associated with heart disease in a dose-response fashion. Mood disorders and alcohol abuse were more strongly associated with earlier onset than later onset heart disease. Associations did not vary by gender. Depression, anxiety and alcohol use disorders were significantly associated with heart disease onset; depression was the weakest predictor. If confirmed in future prospective studies, the breadth of psychopathology's links with heart disease onset has substantial clinical and public health implications. © 2013.

  10. Is chronic obstructive pulmonary disease associated with increased arterial stiffness?

    Janner, Julie H; McAllister, David A; Godtfredsen, Nina S

    2012-01-01

    We hypothesize that airflow limitation is associated with increasing arterial stiffness and that having COPD increases a non-invasive measure of arterial stiffness - the aortic augmentation index (AIx) - independently of other CVD risk factors.......We hypothesize that airflow limitation is associated with increasing arterial stiffness and that having COPD increases a non-invasive measure of arterial stiffness - the aortic augmentation index (AIx) - independently of other CVD risk factors....

  11. Systematic identification of latent disease-gene associations from PubMed articles.

    Zhang, Yuji; Shen, Feichen; Mojarad, Majid Rastegar; Li, Dingcheng; Liu, Sijia; Tao, Cui; Yu, Yue; Liu, Hongfang

    2018-01-01

    Recent scientific advances have accumulated a tremendous amount of biomedical knowledge providing novel insights into the relationship between molecular and cellular processes and diseases. Literature mining is one of the commonly used methods to retrieve and extract information from scientific publications for understanding these associations. However, due to large data volume and complicated associations with noises, the interpretability of such association data for semantic knowledge discovery is challenging. In this study, we describe an integrative computational framework aiming to expedite the discovery of latent disease mechanisms by dissecting 146,245 disease-gene associations from over 25 million of PubMed indexed articles. We take advantage of both Latent Dirichlet Allocation (LDA) modeling and network-based analysis for their capabilities of detecting latent associations and reducing noises for large volume data respectively. Our results demonstrate that (1) the LDA-based modeling is able to group similar diseases into disease topics; (2) the disease-specific association networks follow the scale-free network property; (3) certain subnetwork patterns were enriched in the disease-specific association networks; and (4) genes were enriched in topic-specific biological processes. Our approach offers promising opportunities for latent disease-gene knowledge discovery in biomedical research.

  12. Herpesvirus-associated central nervous system diseases after allogeneic hematopoietic stem cell transplantation.

    Wu, Meiqing; Huang, Fen; Jiang, Xinmiao; Fan, Zhiping; Zhou, Hongsheng; Liu, Can; Jiang, Qianli; Zhang, Yu; Zhao, Ke; Xuan, Li; Zhai, Xiao; Zhang, Fuhua; Yin, Changxin; Sun, Jing; Feng, Ru; Liu, Qifa

    2013-01-01

    Herpesvirus infections of the central nervous system (CNS) are associated with encephalitis/myelitis and lymphoproliferative diseases in immunocompromised individuals. As of now, data of herpesvirus-associated CNS diseases in transplant recipients is limited. Hence, in this prospective study, we investigated the incidence of herpesvirus-associated CNS diseases and explored the diagnosis of these diseases in 281 allogeneic hematopoietic stem cell transplantation (allo-HSCT) recipients. Herpesvirus-DNA and cerebrospinal fluid (CSF) cells were sampled from 58 recipients with herpesvirus-associated diseases or with unexplainable CNS manifestations. Results showed that 23 patients were diagnosed as herpesvirus-associated CNS diseases, including 15 Epstein-Barr virus (EBV)-associated diseases (4 encephalitis and 11 lymphoproliferative diseases), 5 herpes simplex virus type 1 encephalitis, 2 cytomegalovirus encephalitis/myelitis and 1 varicella zoster virus encephalitis. The median time of diseases onset was 65 (range 22-542) days post-transplantation. The 3-year cumulative incidence of herpesvirus-associated encephalitis/myelitis and post-transplant lymphoproliferative disorder (PTLD) was 6.3% ± 1.9% and 4.1% ± 1.2%, respectively. Of the evaluable cases, CSF cells mainly consisted of CD19(+)CD20(+) B cells (7/11) and had clonal rearrangement of immunoglobulin genes (3/11) in patients with CNS-PTLD. On the contrary, in patients with encephalitis/myelitis, CSF cells were comprised of different cell populations and none of the gene rearrangement was detected. Herpesvirus-associated CNS diseases are common in the early stages of allo-HSCT, wherein EBV is the most frequent causative virus. The immunophenotypic and clonal analysis of CSF cells might be helpful in the differential diagnosis between encephalitis and lymphoproliferative diseases.

  13. Is there an association between Fahr′s disease and cardiac conduction system disease?: A case report

    Prashanth Panduranga

    2012-01-01

    Full Text Available Background: Fahr′s disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr′s disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various cardiac conduction system abnormalities and bilateral basal ganglia calcifica-tion suggestive of Fahr′s disease. Case Report: A 19-year-old female was transferred to our hospital for a pacemaker insertion. Her past medical history included cognitive impairment and asymptomatic congenital complete heart block since birth. Her manifestations in-cluded cognitive impairment, tremors, rigidity, ataxia, bilateral basal ganglia calcification without clinical manifesta-tions of mitochondrial cytopathy. She also had right bundle branch block, left anterior fascicular block, intermittent complete heart block, atrial arrhythmias with advanced atrioventricular blocks and ventricular asystole manifested by Stokes-Adams seizures, which was diagnosed as epilepsy. Conclusions: According to our knowledge, this was the first case report of a su spected association between Fahr′s disease and isolated cardiac conduction system disease. In addition, this case illustrated that in patients with heart blocks and seizures, a diagnosis of epilepsy needs to be made with caution and such patients need further evaluations by a cardiologist or electrophysiologist to consider pacing and prevent future catastrophic events.

  14. Pregnancy-associated breast disease: radiologic features and diagnostic dilemmas.

    Son, Eun Ju; Oh, Ki Keun; Kim, Eun Kyung

    2006-02-28

    In this paper, we evaluate the radiological features of pregnancy-associated breast lesions and discuss the difficulties in diagnosis by imaging. We selected patients who were diagnosed with pregnancy-associated breast lesions during the previous 5 years. All patients complained of palpable lesions in the breast and underwent ultrasonographic (US) examination, the first choice for examination of pregnancy-related breast lesions. Any suspicious lesions found by the US were recommended for a US-guided core biopsy, US-guided fine needle aspiration (FNA), or surgery. Various breast lesions were detected during pregnancy and lactation, including breast cancer, mastitis and abscesses, lactating adenoma, galactoceles, lobular hyperplasia, and fibroadenomas. The imaging features of pregnancy-associated breast lesions did not differ from the features of non-pregnancy-associated breast lesions; however, some pregnancy-associated benign lesions had suspicious sonographic features. A US-guided core biopsy was necessary for differentiating benign from malignant. In patients with breast cancer, the cancer was often advanced at the time of diagnosis. In conclusion, various pregnancy-related breast lesions were detected and the imaging of these lesions had variable findings. Breast ultrasound could be an excellent imaging modality for diagnosis and differentiation between benign and malignant lesions. However, when the imaging results are suspicious, a biopsy should be performed to obtain a pathologic diagnosis.

  15. Transfusion-associated graft-versus-host disease

    Rappeport, J.M.

    1990-01-01

    The clinical pathologic syndrome of graft-versus-host disease (GVHD) is usually a sequela of bone marrow transplantation. This disorder occurs as a result of recognition by engrafted donor-derived lymphocytes of foreign recipient transplantation antigens. GVHD may also result from engraftment of lymphocytes from other sources, including (1) transfusion of lymphocytes containing blood components, (2) transplacental maternal fetal transfusion, and (3) passive transfer of lymphocytes in solid organ transplantation. The recipients are usually severely immunodeficient and thus incapable of rejecting the transfused lymphocytes. This syndrome may, however, also develop in immunologically competent patients receiving blood products from individuals with histocompatibility antigens not recognized as foreign. 58 refs

  16. REM behaviour disorder detection associated with neurodegenerative diseases

    Kempfner, Jacob; Sorensen, Gertrud; Zoetmulder, Marielle

    2010-01-01

    Abnormal skeleton muscle activity during REM sleep is characterized as REM Behaviour Disorder (RBD), and may be an early marker for different neurodegenerative diseases. Early detection of RBD is therefore highly important, and in this ongoing study a semi-automatic method for RBD detection......, a computerized algorithm has been attempted implemented. By analysing the REM and non-REM EMG activity, using advanced signal processing tools combined with a statistical classifier, it is possible to discriminate normal and abnormal EMG activity. Due to the small number of patients, the overall performance...

  17. From genome-wide association studies to disease mechanisms : celiac disease as a model for autoimmune diseases

    Kumar, Vinod; Wijmenga, Cisca; Withoff, Sebo

    Celiac disease is characterized by a chronic inflammatory reaction in the intestine and is triggered by gluten, a constituent derived from grains which is present in the common daily diet in the Western world. Despite decades of research, the mechanisms behind celiac disease etiology are still not

  18. DR2DI: a powerful computational tool for predicting novel drug-disease associations

    Lu, Lu; Yu, Hua

    2018-05-01

    Finding the new related candidate diseases for known drugs provides an effective method for fast-speed and low-risk drug development. However, experimental identification of drug-disease associations is expensive and time-consuming. This motivates the need for developing in silico computational methods that can infer true drug-disease pairs with high confidence. In this study, we presented a novel and powerful computational tool, DR2DI, for accurately uncovering the potential associations between drugs and diseases using high-dimensional and heterogeneous omics data as information sources. Based on a unified and extended similarity kernel framework, DR2DI inferred the unknown relationships between drugs and diseases using Regularized Kernel Classifier. Importantly, DR2DI employed a semi-supervised and global learning algorithm which can be applied to uncover the diseases (drugs) associated with known and novel drugs (diseases). In silico global validation experiments showed that DR2DI significantly outperforms recent two approaches for predicting drug-disease associations. Detailed case studies further demonstrated that the therapeutic indications and side effects of drugs predicted by DR2DI could be validated by existing database records and literature, suggesting that DR2DI can be served as a useful bioinformatic tool for identifying the potential drug-disease associations and guiding drug repositioning. Our software and comparison codes are freely available at https://github.com/huayu1111/DR2DI.

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

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

    2012-01-01

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

  20. DR2DI: a powerful computational tool for predicting novel drug-disease associations

    Lu, Lu; Yu, Hua

    2018-04-01

    Finding the new related candidate diseases for known drugs provides an effective method for fast-speed and low-risk drug development. However, experimental identification of drug-disease associations is expensive and time-consuming. This motivates the need for developing in silico computational methods that can infer true drug-disease pairs with high confidence. In this study, we presented a novel and powerful computational tool, DR2DI, for accurately uncovering the potential associations between drugs and diseases using high-dimensional and heterogeneous omics data as information sources. Based on a unified and extended similarity kernel framework, DR2DI inferred the unknown relationships between drugs and diseases using Regularized Kernel Classifier. Importantly, DR2DI employed a semi-supervised and global learning algorithm which can be applied to uncover the diseases (drugs) associated with known and novel drugs (diseases). In silico global validation experiments showed that DR2DI significantly outperforms recent two approaches for predicting drug-disease associations. Detailed case studies further demonstrated that the therapeutic indications and side effects of drugs predicted by DR2DI could be validated by existing database records and literature, suggesting that DR2DI can be served as a useful bioinformatic tool for identifying the potential drug-disease associations and guiding drug repositioning. Our software and comparison codes are freely available at https://github.com/huayu1111/DR2DI.

  1. First Identified Case in Literature: Association of Achalasia and Celiac Diseases

    Ibrahim Bucak

    2014-12-01

    Full Text Available Celiac disease has been shown to cause problems related to gastrointestinal system motility such as reduction of the esophageal sphincter pressure and prolongation of gastric emptying time. Achalasia disease is a motor disorder that is charac¬terized by the absence of esophageal peristalsis and by incomplete relaxation of the lower esophageal sphincter. Association of achalasia and celiac diseases has not been reported yet. Our patient with growth and developmental retardation had vomiting effects which lasted for 3 years. Celiac disease was diagnosed serologically and histopathologically in our patient; we determined achalasia disease with esophagoscopic examination, upper gastrointestinal system contrast study, and esophageal manometer. Esophageal balloon dilatation was applied. This case is presented because of the interesting association between celiac disease and achalasia disease.

  2. Genetic Similarity between Cotton Leafroll Dwarf Virus and Chickpea Stunt Disease Associated Virus in India

    Arup Kumar Mukherjee

    2016-12-01

    Full Text Available The cotton leafroll dwarf virus (CLRDV is one of the most devastating pathogens of cotton. This malady, known as cotton blue disease, is widespread in South America where it causes huge crop losses. Recently the disease has been reported from India. We noticed occurrence of cotton blue disease and chickpea stunt disease in adjoining cotton and chickpea fields and got interested in knowing if these two viral diseases have some association. By genetic studies, we have shown here that CLRDV is very close to chickpea stunt disease associated virus (CpSDaV. We were successful in transmitting the CLRDV from cotton to chickpea. Our studies indicate that CpSDaV and CLRDV in India are possibly two different strains of the same virus. These findings would be helpful in managing these serious diseases by altering the cropping patterns.

  3. Pulmonary arterial hypertension associated with congenital heart disease

    Michele D'Alto

    2012-12-01

    Full Text Available Pulmonary arterial hypertension (PAH is a common complication of congenital heart disease (CHD, with most cases occurring in patients with congenital cardiac shunts. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodelling and dysfunction, resulting in a progressive rise in pulmonary vascular resistance and increased pressures in the right heart. Eventually, reversal of the shunt may arise, with the development of Eisenmenger's syndrome, the most advanced form of PAH-CHD. The prevalence of PAH-CHD has fallen in developed countries over recent years and the number of patients surviving into adulthood has increased markedly. Today, the majority of PAH-CHD patients seen in clinical practice are adults, and many of these individuals have complex disease or received a late diagnosis of their defect. While there have been advances in the management and therapy in recent years, PAH-CHD is a heterogeneous condition and some subgroups, such as those with Down's syndrome, present particular challenges. This article gives an overview of the demographics, pathophysiology and treatment of PAH-CHD and focuses on individuals with Down's syndrome as an important and challenging patient group.

  4. Mechanisms Underlying HIV-Associated Noninfectious Lung Disease.

    Presti, Rachel M; Flores, Sonia C; Palmer, Brent E; Atkinson, Jeffrey J; Lesko, Catherine R; Lau, Bryan; Fontenot, Andrew P; Roman, Jesse; McDyer, John F; Twigg, Homer L

    2017-11-01

    Pulmonary disease remains a primary source of morbidity and mortality in persons living with HIV (PLWH), although the advent of potent combination antiretroviral therapy has resulted in a shift from predominantly infectious to noninfectious pulmonary complications. PLWH are at high risk for COPD, pulmonary hypertension, and lung cancer even in the era of combination antiretroviral therapy. The underlying mechanisms of this are incompletely understood, but recent research in both human and animal models suggests that oxidative stress, expression of matrix metalloproteinases, and genetic instability may result in lung damage, which predisposes PLWH to these conditions. Some of the factors that drive these processes include tobacco and other substance use, direct HIV infection and expression of specific HIV proteins, inflammation, and shifts in the microbiome toward pathogenic and opportunistic organisms. Further studies are needed to understand the relative importance of these factors to the development of lung disease in PLWH. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  5. Cure of Helicobacter pylori-associated ulcer disease through eradication.

    Malfertheiner, P; Leodolter, A; Peitz, U

    2000-02-01

    The eradication of Helicobacter pylori (H. pylori) infection has led to a dramatic benefit for patients with gastroduodenal ulcer disease, as the majority of these patients receive a lifelong cure. Relapses after successful H. pylori cure may be caused by either recrudescence or reinfection, both rare events nowadays, or be attributed to non-steroidal anti-inflammatory drugs or aspirin intake. In certain geographical areas, H. pylori-negative relapses are proposed as a new, pathophysiological and not yet elucidated entity. The cure of H. pylori infection in uncomplicated duodenal ulcer diseases consists of 7 days of proton pump inhibitor (PPI) based triple therapy, containing two antibiotics from clarithromycin, amoxicillin and metronidazole. In gastric ulcer, it is recommended that the PPI is continued for a further 3 weeks as these ulcers have a prolonged healing time. Rescue therapies after failure need to take into consideration the resistance pattern of the micro-organism and are offered in the form of quadruple therapy or a high-dose PPI with amoxicillin.

  6. Pulpal changes associated with advanced periodontal disease: A histopathological study.

    Gautam, Siddharth; Galgali, Sushama R; Sheethal, H S; Priya, N S

    2017-01-01

    Over the past century, the dental literature has consistently reflected a controversy related to the effect of periodontal disease on the dental pulp. Nonetheless, practitioners are of the opinion that teeth having deep periodontal pockets show variable pulpal response, which may necessitate root canal treatment. Thus, this study aimed to evaluate the changes in pulp due to advanced periodontal disease. Forty caries-free teeth affected with severe periodontitis were collected from patients aged between 18 and 55 years. The collected teeth were stored in formalin for 24 h and were then decalcified and examined histologically after staining with hematoxylin and eosin to note the changes that occurred in pulp. Pulpal calcification (52.62%) and partial necrosis of pulp (52.62%) were found to be the most common findings. Inflammation, which was found in 47.38% of the cases, ranged from mild to severe in most sections and was always chronic. Pulp with complete necrosis was seen in 26.32% of cases. Fibrosis and pulpal edema were seen in 36.84% of cases. In the presence of moderate to severe chronic periodontitis, degenerative changes such as inflammation, fibrosis, edema, calcification and necrosis were observed to variable degree.

  7. Modeling Parkinson's disease falls associated with brainstem cholinergic systems decline.

    Kucinski, Aaron; Sarter, Martin

    2015-04-01

    In addition to the primary disease-defining symptoms, approximately half of patients with Parkinson's disease (PD) suffer from postural instability, impairments in gait control and a propensity for falls. Consistent with evidence from patients, we previously demonstrated that combined striatal dopamine (DA) and basal forebrain (BF) cholinergic cell loss causes falls in rats traversing dynamic surfaces. Because evidence suggests that degeneration of brainstem cholinergic neurons arising from the pedunculopontine nucleus (PPN) also contributes to impaired gait and falls, here we assessed the effects of selective cholinergic PPN lesions in combination with striatal DA loss or BF cholinergic cells loss as well as losses in all 3 regions. Results indicate that all combination losses that included the BF cholinergic system slowed traversal and increased slips and falls. However, the performance of rats with losses in all 3 regions (PPN, BF, and DA) was not more severely impaired than following combined BF cholinergic and striatal DA lesions. These results confirm the hypothesis that BF cholinergic-striatal disruption of attentional-motor interactions is a primary source of falls. Additional losses of PPN cholinergic neurons may worsen posture and gait control in situations not captured by the current testing conditions. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

  8. Radioiodine-induced hypothyroidism in Graves' disease: factors associated

    Cunnien, A.J.; Hay, I.D.; Gorman, C.A.; Offord, K.P.; Scanlon, P.W.

    1982-01-01

    A retrospective analysis was done of the records of 454 patients who received their first 131 I treatment for Graves' disease during six periods covering 1951 to 1978. In the earliest group, 3% of patients were hypothyroid 3 mo after 131 I use, and 40% were hypothyroid at 1 yr. In the most recent group, 36% of patients were hypothyroid at 3 mo and 91% were myxedematous at 1 yr. Although no obvious trends were noted, whether in the number of patients pretreated with thionamide drugs, in the mean 24-hr 131 I uptake, or in the calculated dose of 131 I (muCi/estimated gram of thyroid tissue) during the years of the study, the initial mean dose of 131 I administered increased from 8.1 mCi in the earliest group to 13.8 mCi in the latest group. Concurrently, estimates of gland size increased from a mean of 26 g in the first group to 43 g in the last. If, in patients with Graves' disease, the thyroid gland size did not truly increase during the years of the study, the increasing occurrence of early hypothyroidism seen after 131 I use may reflect the conscious or unconscious decision to use larger doses of 131 I calculated on the basis of inflated estimates of thyroid gland weight

  9. Coronary artery disease and its association with Vitamin D deficiency

    Ramesh Aggarwal

    2016-01-01

    Full Text Available Coronary artery disease (CAD has become the latest scourge of humankind and referred to in this article as CAD, is the end result of the accumulation of atheromatous plaques within the walls of coronary arteries that supply the myocardium, a process also known as atherosclerosis and manifests mostly in the form of chronic stable angina or acute coronary syndrome. Vitamin D has attracted considerable interest recently due to its role in a number of extraskeletal disease processes including multiple sclerosis, malignancies, diabetes mellitus, and CAD. It is also known as sunshine vitamin due to its production in the body following exposure to ultraviolet rays, and it is a unique vitamin as it acts like a hormone with its receptor present in a wide range of tissues including endothelium, which is the important mediator of atherosclerosis and subsequent CAD. A large number of studies conducted in the past have provided the basic scientific framework and this article attempts to explore the role of Vitamin D deficiency in the pathogenesis of CAD and stresses the need for further research to fill up gap in our knowledge.

  10. DDMGD: the database of text-mined associations between genes methylated in diseases from different species

    Raies, A. B.

    2014-11-14

    Gathering information about associations between methylated genes and diseases is important for diseases diagnosis and treatment decisions. Recent advancements in epigenetics research allow for large-scale discoveries of associations of genes methylated in diseases in different species. Searching manually for such information is not easy, as it is scattered across a large number of electronic publications and repositories. Therefore, we developed DDMGD database (http://www.cbrc.kaust.edu.sa/ddmgd/) to provide a comprehensive repository of information related to genes methylated in diseases that can be found through text mining. DDMGD\\'s scope is not limited to a particular group of genes, diseases or species. Using the text mining system DEMGD we developed earlier and additional post-processing, we extracted associations of genes methylated in different diseases from PubMed Central articles and PubMed abstracts. The accuracy of extracted associations is 82% as estimated on 2500 hand-curated entries. DDMGD provides a user-friendly interface facilitating retrieval of these associations ranked according to confidence scores. Submission of new associations to DDMGD is provided. A comparison analysis of DDMGD with several other databases focused on genes methylated in diseases shows that DDMGD is comprehensive and includes most of the recent information on genes methylated in diseases.

  11. DDMGD: the database of text-mined associations between genes methylated in diseases from different species.

    Bin Raies, Arwa; Mansour, Hicham; Incitti, Roberto; Bajic, Vladimir B

    2015-01-01

    Gathering information about associations between methylated genes and diseases is important for diseases diagnosis and treatment decisions. Recent advancements in epigenetics research allow for large-scale discoveries of associations of genes methylated in diseases in different species. Searching manually for such information is not easy, as it is scattered across a large number of electronic publications and repositories. Therefore, we developed DDMGD database (http://www.cbrc.kaust.edu.sa/ddmgd/) to provide a comprehensive repository of information related to genes methylated in diseases that can be found through text mining. DDMGD's scope is not limited to a particular group of genes, diseases or species. Using the text mining system DEMGD we developed earlier and additional post-processing, we extracted associations of genes methylated in different diseases from PubMed Central articles and PubMed abstracts. The accuracy of extracted associations is 82% as estimated on 2500 hand-curated entries. DDMGD provides a user-friendly interface facilitating retrieval of these associations ranked according to confidence scores. Submission of new associations to DDMGD is provided. A comparison analysis of DDMGD with several other databases focused on genes methylated in diseases shows that DDMGD is comprehensive and includes most of the recent information on genes methylated in diseases. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

  12. Retrospective study of diseases and associated pneumonia type ...

    ADEYEYE

    2014-09-05

    Sep 5, 2014 ... The causes and types of pneumonia in dogs have not been accorded due attention in Nigeria. It is imperative to ... records while the specific type of pneumonia was by histopathology of selected lungs tissues, using standard techniques. .... compromised immunity or those associated with stress due to early ...

  13. The Prevalence of Chronic Kidney Disease and Associated Factors ...

    2016-06-27

    Jun 27, 2016 ... Attribution-Non Commercial-Share Alike 3.0 License, which allows others to remix, ... With the poverty and debt burden increasing in most of ... only factors independently associated with CKD.[8] ... countries like Botswana where the health system is ... of cases involved two steps; all patients admitted in.

  14. Heart and/or soul : reality and fiction in the association between the two strongest contributors to the global burden of disease - ischemic heart disease and depression

    de Jonge, Peter

    Depression and heart disease are the strongest contributors to the global burden of disease and are often intertwined: depression is a risk factor for heart disease and vice versa. Moreover, depression in patients with established heart disease is associated with cardiovascular disease progression.

  15. Serum anti-glycan antibodies in paediatric-onset Crohn's disease: association with disease phenotype and diagnostic accuracy.

    Sładek, Małgorzata; Wasilewska, Agata; Swiat, Agnieszka; Cmiel, Adam

    2014-01-01

    Antibodies reacting with various microbial epitopes have been described in inflammatory bowel disease (IBD) and are associated with a specific diagnosis and clinical presentation. To evaluate the profile of new anti-glycan antibodies, their potential association with disease phenotype and diagnostic accuracy in paediatric Crohn's disease (CD). Blood samples from 134 paediatric IBD patients (109 CD, 25 ulcerative colitis (UC)) and 67 controls were blindly analysed for anti-Saccharomyces cerevisiae (ASCA), anti-chitobioside carbohydrate (ACCA), anti-laminaribioside carbohydrate (ALCA), and anti-mannobioside carbohydrate (AMCA) antibodies using commercially available assays. The serological response to glycans was correlated with clinical disease characteristics. At least one of the tested anti-glycan antibodies was present in 75% of CD patients. Despite the high frequency of reactivity to glycan epitopes, a limited overlap of serological markers was observed. In total, 49% of ASCA-negative patients presented with one of the following: ACCA, ALCA, or AMCA. The occurrence of one antibody from the anti-glycan panel was independently associated with complicated disease phenotype and ileocolonic disease location. A higher level of immune response as assessed by the quartile sum scores for ACCA, ALCA, and AMCA was linked with older age at diagnosis (10-17 years) and ileocolonic disease location. The ASCA had the greatest accuracy for diagnosis and differentiation of CD. Qualitative and quantitative serologicalal response to glycan epitopes was associated with distinct clinical presentation in paediatric CD patients. This raises the possibility for the use of these markers to differentiate subgroups of CD patients with more sever clinical presentation. The ASCA was the most accurate serological marker for CD; however, testing for the new anti-glycan antibodies may constitute an adjunctive tool in a specific group of patients to aid in the differentiation of CD with absent

  16. Microvillus Inclusion Disease Associated with Necrotizing Enterocolitis in a Premature Infant

    Ersin Sayar

    2014-11-01

    Full Text Available Microvillus inclusion disease is one of the congenital diarrheal disorders characterized by the appearance of inclusion bodies on the intestinal epithelium. To date there are a few cases and also a few other associated finding reports related to this life-threatening disease in literature. In this report, we present a premature infant with microvillus inclusion disease that was associated with necrotizing enterocolitis. Thus, we should be aware of the appearance of necrotizing enterocolitis in patients with microvillus inclusion disease, especially when contributing factors are present.

  17. Analysis of disease-associated protein expression using quantitative proteomics—fibulin-5 is expressed in association with hepatic fibrosis.

    Bracht, Thilo; Schweinsberg, Vincent; Trippler, Martin; Kohl, Michael; Ahrens, Maike; Padden, Juliet; Naboulsi, Wael; Barkovits, Katalin; Megger, Dominik A; Eisenacher, Martin; Borchers, Christoph H; Schlaak, Jörg F; Hoffmann, Andreas-Claudius; Weber, Frank; Baba, Hideo A; Meyer, Helmut E; Sitek, Barbara

    2015-05-01

    Hepatic fibrosis and cirrhosis are major health problems worldwide. Until now, highly invasive biopsy remains the diagnostic gold standard despite many disadvantages. To develop noninvasive diagnostic assays for the assessment of liver fibrosis, it is urgently necessary to identify molecules that are robustly expressed in association with the disease. We analyzed biopsied tissue samples from 95 patients with HBV/HCV-associated hepatic fibrosis using three different quantification methods. We performed a label-free proteomics discovery study to identify novel disease-associated proteins using a subset of the cohort (n = 27). Subsequently, gene expression data from all available clinical samples were analyzed (n = 77). Finally, we performed a targeted proteomics approach, multiple reaction monitoring (MRM), to verify the disease-associated expression in samples independent from the discovery approach (n = 68). We identified fibulin-5 (FBLN5) as a novel protein expressed in relation to hepatic fibrosis. Furthermore, we confirmed the altered expression of microfibril-associated glycoprotein 4 (MFAP4), lumican (LUM), and collagen alpha-1(XIV) chain (COL14A1) in association to hepatic fibrosis. To our knowledge, no tissue-based quantitative proteomics study for hepatic fibrosis has been performed using a cohort of comparable size. By this means, we add substantial evidence for the disease-related expression of the proteins examined in this study.

  18. The Association of Vitamin D Status with Disease Activity in a Cohort of Crohn’s Disease Patients in Canada

    Dania Alrefai

    2017-10-01

    Full Text Available We determined the association between vitamin D status as 25hydroxyvitamin D [25(OHD] and disease activity in a cohort of 201 Crohn’s Disease (CD patients in Saskatoon, Canada over three years. The association between high-sensitivity C-reactive protein (hs-CRP and 25(OHD and several disease predictors were evaluated by the generalized estimating equation (GEE over three time-point measurements. A GEE binary logistic regression test was used to evaluate the association between vitamin D status and the Harvey-Bradshaw Index (HBI. The deficient vitamin D group (≤29 nmol/L had significantly higher mean hs-CRP levels compared with the three other categories of vitamin D status (p < 0.05. CRP was significantly lower in all of the other groups compared with the vitamin D-deficient group, which had Coef. = 12.8 units lower (95% CI −19.8, −5.8, Coef. 7.85 units (95% CI −14.9, −0.7, Coef. 9.87 units (95% CI −17.6, −2.0 for the vitamin D insufficient, adequate, and optimal groups, respectively. The vitamin D status was associated with the HBI active disease category. However, the difference in the odds ratio compared with the reference category of deficient vitamin D category was only significant in the insufficient category (odds ratio = 3.45, p = 0.03, 95% CI 1.0, 10.8. Vitamin D status was inversely associated with indicators of disease activity in Crohn’s disease, particularly with the objective measures of inflammation.

  19. Celiac Disease Is Associated with Childhood Psychiatric Disorders: A Population-Based Study.

    Butwicka, Agnieszka; Lichtenstein, Paul; Frisén, Louise; Almqvist, Catarina; Larsson, Henrik; Ludvigsson, Jonas F

    2017-05-01

    To determine the risk of future childhood psychiatric disorders in celiac disease, assess the association between previous psychiatric disorders and celiac disease in children, and investigate the risk of childhood psychiatric disorders in siblings of celiac disease probands. This was a nationwide registry-based matched cohort study in Sweden with 10 903 children (aged celiac disease and 12 710 of their siblings. We assessed the risk of childhood psychiatric disorders (any psychiatric disorder, psychotic disorder, mood disorder, anxiety disorder, eating disorder, psychoactive substance misuse, behavioral disorder, attention-deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and intellectual disability). HRs of future psychiatric disorders in children with celiac disease and their siblings was estimated by Cox regression. The association between previous diagnosis of a psychiatric disorder and current celiac disease was assessed using logistic regression. Compared with the general population, children with celiac disease had a 1.4-fold greater risk of future psychiatric disorders. Childhood celiac disease was identified as a risk factor for mood disorders, anxiety disorders, eating disorders, behavioral disorders, ADHD, ASD, and intellectual disability. In addition, a previous diagnosis of a mood, eating, or behavioral disorder was more common before the diagnosis of celiac disease. In contrast, siblings of celiac disease probands were at no increased risk of any of the investigated psychiatric disorders. Children with celiac disease are at increased risk for most psychiatric disorders, apparently owing to the biological and/or psychological effects of celiac disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Pulmonary cystic disease associated with integumentary and renal manifestations

    Cayetano, Katherine S.; Albertson, Timothy E.; Chan, Andrew L.

    2013-01-01

    A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces. PMID:24285950

  1. Identifying species conservation strategies to reduce disease-associated declines

    Gerber, Brian D.; Converse, Sarah J.; Muths, Erin L.; Crockett, Harry J.; Mosher, Brittany A.; Bailey, Larissa L.

    2018-01-01

    Emerging infectious diseases (EIDs) are a salient threat to many animal taxa, causing local and global extinctions, altering communities and ecosystem function. The EID chytridiomycosis is a prominent driver of amphibian declines, which is caused by the fungal pathogen Batrachochytrium dendrobatidis (Bd). To guide conservation policy, we developed a predictive decision-analytic model that combines empirical knowledge of host-pathogen metapopulation dynamics with expert judgment regarding effects of management actions, to select from potential conservation strategies. We apply our approach to a boreal toad (Anaxyrus boreas boreas) and Bd system, identifying optimal strategies that balance tradeoffs in maximizing toad population persistence and landscape-level distribution, while considering costs. The most robust strategy is expected to reduce the decline of toad breeding sites from 53% to 21% over 50 years. Our findings are incorporated into management policy to guide conservation planning. Our online modeling application provides a template for managers of other systems challenged by EIDs.

  2. RTEL1: functions of a disease-associated helicase.

    Vannier, Jean-Baptiste; Sarek, Grzegorz; Boulton, Simon J

    2014-07-01

    DNA secondary structures that arise during DNA replication, repair, and recombination (3R) must be processed correctly to prevent genetic instability. Regulator of telomere length 1 (RTEL1) is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate 3R processes and to maintain telomere integrity. The past few years have witnessed the emergence of RTEL1 variants that confer increased susceptibility to high-grade glioma, astrocytomas, and glioblastomas. Mutations in RTEL1 have also been implicated in Hoyeraal-Hreidarsson syndrome, a severe form of the bone-marrow failure and cancer predisposition disorder, dyskeratosis congenita. We review these recent findings and highlight its crucial link between DNA secondary-structure metabolism and human disease. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Uveitis- a rare disease often associated with systemic diseases and infections- a systematic review of 2619 patients

    Barisani-Asenbauer Talin

    2012-08-01

    Full Text Available Abstract Background Uveitis is an autoimmune disease of the eye that refers to any of a number of intraocular inflammatory conditions. Because it is a rare disease, uveitis is often overlooked, and the possible associations between uveitis and extra-ocular disease manifestations are not well known. The aim of this study was to characterize uveitis in a large sample of patients and to evaluate the relationship between uveitis and systemic diseases. Methods The present study is a cross-sectional study of a cohort of patients with uveitis. Records from consecutive uveitis patients who were seen by the Uveitis Service in the Department of Ophthalmology at the Medical University of Vienna between 1995 and 2009 were selected from the clinical databases. The cases were classified according to the Standardization of Uveitis Nomenclature Study Group criteria for Uveitis. Results Data were available for 2619 patients, of whom 59.9% suffered from anterior, 14.8% from intermediate, 18.3% from posterior and 7.0% from panuveitis. 37.2% of all cases showed an association between uveitis and extra-organ diseases; diseases with primarily arthritic manifestations were seen in 10.1% of all cases, non-infectious systemic diseases (i.e., Behçet´s disease, sarcoidosis or multiple sclerosis in 8.4% and infectious uveitis in 18.7%. 49.4% of subjects suffering from anterior uveitis tested positively for the HLA-B27 antigen. In posterior uveitis cases 29% were caused by ocular toxoplasmosis and 17.7% by multifocal choroiditis. Conclusion Ophthalmologists, rheumatologists, infectiologists, neurologists and general practitioners should be familiar with the differential diagnosis of uveitis. A better interdisciplinary approach could help in tailoring of the work-up, earlier diagnosis of co-existing diseases and management of uveitis patients.

  4. Association between periodontal disease and overweight and obesity

    Keller, Amelie; Rohde, Jeanett F; Raymond, Kyle

    2015-01-01

    BACKGROUND: Periodontitis and obesity are among the most common chronic disorders affecting the world's populations, and recent reviews suggest a potential link between overweight/obesity and periodontitis. However, because of the scarcity of prospective evidence, previous reviews were primarily...... based on cross-sectional studies, with only a few longitudinal or intervention studies included. This study's objective is to examine the time-dependent association between obesity and periodontitis and how weight changes may affect the development of periodontitis in the general population. Therefore......, longitudinal and experimental studies that assessed the association among overweight, obesity, weight gain, waist circumference, and periodontitis are reviewed. METHODS: Intervention and longitudinal studies with overweight or obesity as exposure and periodontitis as outcome were searched through the platforms...

  5. A taxonomy for disease management: a scientific statement from the American Heart Association Disease Management Taxonomy Writing Group.

    Krumholz, Harlan M; Currie, Peter M; Riegel, Barbara; Phillips, Christopher O; Peterson, Eric D; Smith, Renee; Yancy, Clyde W; Faxon, David P

    2006-09-26

    Disease management has shown great promise as a means of reorganizing chronic care and optimizing patient outcomes. Nevertheless, disease management programs are widely heterogeneous and lack a shared definition of disease management, which limits our ability to compare and evaluate different programs. To address this problem, the American Heart Association's Disease Management Taxonomy Writing Group developed a system of classification that can be used both to categorize and compare disease management programs and to inform efforts to identify specific factors associated with effectiveness. The AHA Writing Group began with a conceptual model of disease management and its components and subsequently validated this model over a wide range of disease management programs. A systematic MEDLINE search was performed on the terms heart failure, diabetes, and depression, together with disease management, case management, and care management. The search encompassed articles published in English between 1987 and 2005. We then selected studies that incorporated (1) interventions designed to improve outcomes and/or reduce medical resource utilization in patients with heart failure, diabetes, or depression and (2) clearly defined protocols with at least 2 prespecified components traditionally associated with disease management. We analyzed the study protocols and used qualitative research methods to develop a disease management taxonomy with our conceptual model as the organizing framework. The final taxonomy includes the following 8 domains: (1) Patient population is characterized by risk status, demographic profile, and level of comorbidity. (2) Intervention recipient describes the primary targets of disease management intervention and includes patients and caregivers, physicians and allied healthcare providers, and healthcare delivery systems. (3) Intervention content delineates individual components, such as patient education, medication management, peer support, or some

  6. Calf enlargement associated with neurologic disease: two uncommon cases.

    Harwood, S C; Honet, J C

    1988-01-01

    Muscle enlargement and hypertrophy are rare findings in neurogenic lesions. The two in combination have been reported in cases of peripheral nerve lesions, polyneuropathy, and poliomyelitis. True and pseudo muscle hypertrophy are the two possible etiologies, whereas infiltration, stretch, or exercise of the muscle are the causative factors. We report two cases of unilateral calf enlargement, one occurring after surgery for S1 radiculopathy with associated cramping, and the other after poliomyelitis.

  7. DNA mutation motifs in the genes associated with inherited diseases.

    Michal Růžička

    Full Text Available Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed coldspots. Mutation hotspots are usually derived from a mutation spectrum, which reflects particular population where an effect of a common ancestor plays a role. To detect coldspots/hotspots unaffected by population bias, we analysed the presence of germline mutations obtained from HGMD database in the 5-nucleotide segments repeatedly occurring in genes associated with common inherited disorders, in particular, the PAH, LDLR, CFTR, F8, and F9 genes. Statistically significant sequences (mutational motifs rarely associated with mutations (coldspots and frequently associated with mutations (hotspots exhibited characteristic sequence patterns, e.g. coldspots contained purine tract while hotspots showed alternating purine-pyrimidine bases, often with the presence of CpG dinucleotide. Using molecular dynamics simulations and free energy calculations, we analysed the global bending properties of two selected coldspots and two hotspots with a G/T mismatch. We observed that the coldspots were inherently more flexible than the hotspots. We assume that this property might be critical for effective mismatch repair as DNA with a mutation recognized by MutSα protein is noticeably bent.

  8. Association between systemically administered radioisotopes and subsequent malignant disease

    Berlin, N.I.; Wasserman, L.R.

    1976-01-01

    There is a long history recording the association of x radiation and the subsequent development of malignant tumors. For systemically administered isotopes this came into prominence when Martland discovered the association between cancer, particularly of the bone, and ingestion of radioactive isotopes by radium dial painters. This association was amplified by the development of cancer in patients given thorotrast as a contrast medium for diagnostic radiologic examination. Acute leukemia was reported 30 years ago in patients with polycythemia vera treated with 32 P. Acute leukemia also occurs in patients with polycythemia vera treated only with phlebotomy or drugs. A controlled study is now underway to provide a more definite answer to question what is the incidence of acute leukemia in patients with polycythemia vera treated by phlebotomy alone, chlorambucil, or 32 P. 131 I for the treatment of hyperthyroidism probably does not induce cancer, but in the doses used for thyroid cancer there was an increased incidence of neoplasms (12/200 in one study). This was higher than the expected incidence of neoplasms. The doses of radioactive isotopes used currently for diagnostic purposes have not induced cancer, but it is difficult and probably impossible to verify this with absolute certainty

  9. Nonalcoholic fatty liver disease, association with cardiovascular disease and treatment (II). The treatment of nonalcoholic fatty liver disease.

    Brea, Ángel; Pintó, Xavier; Ascaso, Juan F; Blasco, Mariano; Díaz, Ángel; González-Santos, Pedro; Hernández-Mijares, Antonio; Mantilla, Teresa; Millán, Jesús; Pedro-Botet, Juan

    Disease nonalcoholic fatty liver disease (NAFLD) comprises a series of histologically similar to those induced by alcohol consumption in people with very little or no liver damage same. The importance of NAFLD is its high prevalence in our Western societies, from the point of view liver in its progressive evolution from steatosis to steatohepatitis, cirrhosis and liver cancer. During the last decade it has been observed that NAFLD leads to an increased cardiovascular risk with accelerated atherosclerosis and cardiovascular events, the leading cause of morbidity and mortality. This updated January 2016 revision consists of two parts. In this second part, the treatment of NAFLD and its influence on cardiovascular disease and drugs used in the control of cardiovascular risk factors showing a beneficial effect on the liver disease will be reviewed. Copyright © 2016 Sociedad Española de Arteriosclerosis. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Mule deer spatial association patterns and potential implications for transmission of an epizootic disease.

    María Fernanda Mejía-Salazar

    Full Text Available Animal social behaviour can have important effects on the long-term dynamics of diseases. In particular, preferential spatial relationships between individuals can lead to differences in the rates of disease spread within a population. We examined the concurrent influence of genetic relatedness, sex, age, home range overlap, time of year, and prion disease status on proximal associations of adult Rocky Mountain mule deer (Odocoileus hemionus hemionus in a chronic wasting disease endemic area. We also quantified the temporal stability of these associations across different sex, age, and disease status classes. We used three years of high frequency telemetry data from 74 individuals to record encounters within 25 m of each other, and to calculate seasonal home range overlap measured by volume of intersection (VI. The strength of pairwise spatial association between adult mule deer was independent of genetic relatedness, age and disease status. Seasonal variation in association strength was not consistent across years, perhaps due to annual changes in weather conditions. The influence of home range overlap on association strength varied seasonally, whereby associations were stronger in pre-rut and fawning than in the rest of the seasons. The sexes of individuals also interacted with both VI and season. At increasing levels of VI, associations were stronger between females than between males and between females and males. The strongest associations in pre-rut were between males, while the strongest in rut were between females and males. The temporal stability of associations was markedly dependant on the sex and the diagnosis of the associating pair. Our findings highlight the importance of considering concurrent effects of biological and environmental factors when seeking to understand the role of social preference in behavioural ecology and disease spread. Applying this knowledge in epidemiological modelling will shed light on the dynamics of

  11. Association between TYK2 polymorphisms and susceptibility to autoimmune rheumatic diseases: a meta-analysis.

    Lee, Y H; Bae, S-C

    2016-10-01

    This study aimed to explore whether TYK2 polymorphisms are associated with susceptibility to autoimmune rheumatic diseases. We conducted a meta-analysis on the association between TYK2 polymorphisms and autoimmune rheumatic diseases. Twelve studies with a total of 16,335 patients and 30,065 controls were included in the meta-analysis. Meta-analysis revealed an association between rheumatic diseases and the 2 allele of the TYK2 rs2304256 (OR = 0.885, 95% CI = 0.802-0.978, p = 0.016). Furthermore, stratification by ethnicity identified a significant association between this polymorphism and rheumatic diseases in Caucasians (OR = 0.822, 95% CI = 0.706-0.889, p = 9.5 × 10(-7)), but not in Asians (OR = 1.127, 95% CI = 0.835-1.522, p = 0.434). Meta-analysis by rheumatic disease type revealed a significant association between the 2 allele of the TYK2 rs2304256 and SLE in Caucasians (OR = 0.737, 95% CI = 0.673-0.808, p rheumatic diseases in Caucasians (OR = 0.812, 95% CI = 0.661-0.997, p = 0.046) but not in Asians. Interestingly, the rs280519 polymorphism was significantly associated with susceptibility to SLE both in Caucasians and Asians. However, no associations were found between the rs12720270, rs280500, rs280523 and rs8108236 polymorphisms and susceptibility to rheumatic diseases. This meta-analysis demonstrates that the TYK2 rs2304256 and rs12720356 polymorphisms are associated with susceptibility to rheumatic diseases, rs2304256 polymorphism is associated with SLE in Caucasians, and rs280519 polymorphism is associated with SLE in Caucasians and Asians. © The Author(s) 2016.

  12. Therapeutic Potential and Recent Advances of Curcumin in the Treatment of Aging-Associated Diseases

    Sathish Sundar Dhilip Kumar

    2018-04-01

    Full Text Available Curcumin, a low molecular weight, lipophilic, major yellow natural polyphenolic, and the most well-known plant-derived compound, is extracted from the rhizomes of the turmeric (Curcuma longa plant. Curcumin has been demonstrated as an effective therapeutic agent in traditional medicine for the treatment and prevention of different diseases. It has also shown a wide range of biological and pharmacological effects in drug delivery, and has actively been used for the treatment of aging-associated diseases, including cardiovascular diseases, atherosclerosis, neurodegenerative diseases, cancer, rheumatoid arthritis, ocular diseases, osteoporosis, diabetes, hypertension, chronic kidney diseases, chronic inflammation and infection. The functional application and therapeutic potential of curcumin in the treatment of aging-associated diseases is well documented in the literature. This review article focuses mainly on the potential role of plant-derived natural compounds such as curcumin, their mechanism of action and recent advances in the treatment of aging-associated diseases. Moreover, the review briefly recaps on the recent progress made in the preparation of nanocurcumins and their therapeutic potential in clinical research for the treatment of aging-associated diseases.

  13. Therapeutic Potential and Recent Advances of Curcumin in the Treatment of Aging-Associated Diseases.

    Sundar Dhilip Kumar, Sathish; Houreld, Nicolette Nadene; Abrahamse, Heidi

    2018-04-05

    Curcumin, a low molecular weight, lipophilic, major yellow natural polyphenolic, and the most well-known plant-derived compound, is extracted from the rhizomes of the turmeric ( Curcuma longa ) plant. Curcumin has been demonstrated as an effective therapeutic agent in traditional medicine for the treatment and prevention of different diseases. It has also shown a wide range of biological and pharmacological effects in drug delivery, and has actively been used for the treatment of aging-associated diseases, including cardiovascular diseases, atherosclerosis, neurodegenerative diseases, cancer, rheumatoid arthritis, ocular diseases, osteoporosis, diabetes, hypertension, chronic kidney diseases, chronic inflammation and infection. The functional application and therapeutic potential of curcumin in the treatment of aging-associated diseases is well documented in the literature. This review article focuses mainly on the potential role of plant-derived natural compounds such as curcumin, their mechanism of action and recent advances in the treatment of aging-associated diseases. Moreover, the review briefly recaps on the recent progress made in the preparation of nanocurcumins and their therapeutic potential in clinical research for the treatment of aging-associated diseases.

  14. Attitude and knowledge of family medicine practitioners towards the association between periodontal disease and obesity.

    Akram, Z; Abduljabbar, T; Hanif, A; Khan, A; Vohra, F

    2017-05-01

    To assess the attitude and knowledge of family medicine practitioners (FMPs) towards the association between periodontal disease and obesity. A cross-sectional study was performed and a 13-item survey questionnaire was given to FMPs practicing in 12 different teaching hospitals in Karachi, Pakistan. The questions were aimed at exploring the knowledge of FMP's regarding the association of obesity and periodontal disease and their attitude towards the association of obesity and periodontal disease. Chi-square and Spearman co-efficient were conducted to compare subgroups and correlate factors with the knowledge score of FMPs. A total of 314 questionnaires were completed (response rate = 92%). Median age of participants was 41 years and 57% were females. Almost 61% of FMPs answered all the knowledge questions correctly and 64% reported moderate understanding of the association between periodontal health and obesity. Nearly 73% FMPs inquired from obese patients regarding the periodontal disease and more than half (58%) refer patients to a dentist for evaluation. More than half of FMPs perform periodontal disease screening. Nearly all FMPs considered informing obese patients regarding periodontal disease as one of their roles. FMP's play an important role in the early diagnosis, prevention and treatment of periodontal conditions in obese patients. More than two thirds of FMPs showed good knowledge of the association of obesity and periodontal disease. The attitudes of FMPs towards assessing and referring obese patients at a risk of having periodontal disease were reassuring.

  15. Serum nitrate and nitrite are associated with the prevalence of various chronic diseases except cancer.

    Gumanova, Nadezhda G; Deev, Alexander D; Klimushina, Marina V; Kots, Alexander Y; Shalnova, Svetlana A

    2017-04-01

    Nitric oxide and its metabolites, nitrate and nitrite, are important regulators linked to various diseases. We studied the association of fasting serum concentrations of nitrate and nitrite, combined as NOx, without special diet, with the prevalence of various chronic diseases. Fasting concentrations of NOx were assayed in a cohort of 1087 patients recruited to Stress Aging and Health in Russia study that represents male and female population in Moscow, Russia, over 55 years of age. Chronic diseases were recorded based on anamnesis and additional assays were run to characterize immune status and lipid and carbohydrate metabolism. Odds ratios were calculated to associate NOx concentrations with prevalence of chronic diseases in pooled deciles below or above borderline. NOx over 44.7 µM were associated with increased prevalence of various chronic diseases such as diabetes type II, hyperthyroidism, coronary heart disease, gout and thrombosis/stroke. NOx 65.3 µM and above were associated with lowered prevalence of osteoporosis. NOx levels of 74.6 µM and above were associated with significantly higher number of patients who abstain from consumption of alcoholic beverages. NOx were not associated with cancer. Thus, fasting concentrations of NOx in serum can be an important diagnostic parameter characteristic for specific chronic diseases.

  16. Association between temperature and emergency room visits for cardiorespiratory diseases, metabolic syndrome-related diseases, and accidents in metropolitan Taipei.

    Wang, Yu-Chun; Lin, Yu-Kai

    2014-01-01

    This study evaluated risks of the emergency room visits (ERV) for cerebrovascular diseases, heart diseases, ischemic heart disease, hypertensive diseases, chronic renal failure (CRF), diabetes mellitus (DM), asthma, chronic airway obstruction not elsewhere classified (CAO), and accidents associated with the ambient temperature from 2000 to 2009 in metropolitan Taipei. The distributed lag non-linear model was used to estimate the cumulative relative risk (RR) and confidence interval (CI) of cause-specific ERV associated with daily temperature from lag 0 to lag 3 after controlling for potential confounders. This study identified that temperatures related to the lowest risk of ERV was 26 °C for cerebrovascular diseases, 18 °C for CRF, DM, and accidents, and 30 °C for hypertensive diseases, asthma, and CAO. These temperatures were used as the reference temperatures to measure RR for the corresponding diseases. A low temperature (14°C) increased the ERV risk for cerebrovascular diseases, hypertensive diseases, and asthma, with respective cumulative 4-day RRs of 1.56 (95% CI: 1.23, 1.97), 1.78 (95% CI: 1.37, 2.34), and 2.93 (95% CI: 1.26, 6.79). The effects were greater on, or after, lag one. At 32°C, the cumulative 4-day RR for ERV was significant for CRF (RR = 2.36; 95% CI: 1.33, 4.19) and accidents (RR = 1.23; 95% CI: 1.14, 1.33) and the highest RR was seen on lag 0 for CRF (RR = 1.69; 95% CI: 1.01, 3.58), DM (RR = 1.69; 95% CI: 1.09, 2.61), and accidents (RR = 1.19; 95% CI: 1.11, 1.27). Higher temperatures are associated with the increased ERV risks for CRF, DM, and accidents and lower temperatures with the increased ERV risks for cerebrovascular diseases, hypertensive diseases, and asthma in the subtropical metropolitan.

  17. The CT appearances of sclerosing mesenteritis and associated diseases

    Wat, S.Y.J.; Harish, S.; Winterbottom, A.; Choudhary, A.K.; Freeman, A.H.

    2006-01-01

    Sclerosing mesenteritis is characterized by non-specific inflammation of the mesenteric fat associated with variable amount of fibrosis. The aetiology is unclear; the pathogenesis is obscure, and even its nomenclature remains variable. It is a rare condition with imaging features that can be mistaken either for a mesenteric neoplasm or for a wide variety of non-neoplastic inflammatory conditions. Knowledge of the imaging features of this condition may prevent unwarranted aggressive therapy. This review discusses the pathogenesis, clinical manifestations of this condition, as well as illustrating the characteristic computed tomography (CT) features of sclerosing mesenteritis. A rational approach to the differential diagnosis is discussed

  18. Consumption of polyphenol plants may slow aging and associated diseases.

    Uysal, Utku; Seremet, Sila; Lamping, Jeffrey W; Adams, Jerome M; Liu, Deede Y; Swerdlow, Russell H; Aires, Daniel J

    2013-01-01

    Slowing aging is a widely shared goal. Plant-derived polyphenols, which are found in commonly consumed food plants such as tea, cocoa, blueberry and grape, have been proposed to have many health benefits, including slowing aging. In-vivo studies have demonstrated the lifespan-extending ability of six polyphenol-containing plants. These include five widely consumed foods (tea, blueberry, cocoa, apple, pomegranate) and a flower commonly used as a folk medicine (betony). These and multiple other plant polyphenols have been shown to have beneficial effects on aging-associated changes across a variety of organisms from worm and fly to rodent and human.

  19. Association between Nephrolithiasis, Hypertension and Obesity in Polycystic Kidney Disease

    Valbona Bajrami

    2015-12-01

    Full Text Available AIM: We aim to define the correlations between nephrolithiasis, hypertension, age and obesity in patients with autosomal dominant polycystic kidney disease (ADPKD in Albania. MATERIAL AND METHODS: We included 100 patients with autosomal dominant polycystic kidney from 2011 to 2014. The patients underwent X-ray and renal ultrasonography. We performed the metabolic evaluation of blood and urine. RESULTS: The patients with renal stones had a higher level of mean systolic and diastolic blood pressure compared with patients without stones (155 ± 12 mmHg vs. 145 ± 8 mmHg, and 105 ± 0.9 mmHg vs. 92 ± 1.28 mmHg, respectively. Patients with renal stones were older (47 ± 15 vs. 38 ± 5 years, had a higher prevalence of obesity [body mass index (BMI: 28 ± 2.4 vs. 25.7 ± 0.6], had higher levels of total cholesterol level (220 ± 5 mg/dl vs. 203 ± 4 mg/dl as well as triglyceride levels (160 ± 9 mg/dl vs. 126 ± 4 mg/dl, compared with no renal stone individuals. CONCLUSION: ADPKD patients with renal stones in our study had a higher mean level of systolic and diastolic blood pressure, BMI and cholesterol and triglycerides levels compared with individuals without renal stones.

  20. Lung cancer in Hodgkin's disease: association with previous radiotherapy

    List, A.F.; Doll, D.C.; Greco, F.A.

    1985-01-01

    Seven cases of lung cancer were observed in patients with Hodgkin's disease (HD) since 1970. The risk ratio for the development of lung cancer among HD patients was 5.6 times that expected in the general population. The pertinent clinical data from these patients are described and compared to 28 additional patients reported from other institutions. Small-cell lung cancer represented the predominant histologic type of lung cancer encountered in both smoking and nonsmoking patients with HD, accounting for 42% of cases overall and greater than 55% of cases reported in reviews of second malignancies. Tobacco use was noted in only 53% of patients. Twenty-eight (94%) of 30 patients developing metachronous lung cancer received supradiaphragmatic irradiation as primary therapy for HD. Nineteen (68%) of these patients received subsequent chemotherapy salvage. The median age at diagnosis of HD and lung cancer was 39 and 45 years, respectively. The interval between diagnosis of HD and metachronous lung cancer averaged seven years but appeared to vary inversely with age. HD patients treated with supradiaphragmatic irradiation or combined modality therapy may be at increased risk for developing lung cancer. The high frequency of in-field malignancies that the authors observed and the prevalence of small-cell lung cancer in both smoking and nonsmoking patients suggests that chest irradiation may influence the development of metachronous lung cancer in these patients. The finding of a mean latent interval in excess of seven years emphasizes the need for close long-term observation

  1. Tooth loss strongly associates with malnutrition in chronic kidney disease.

    Ioannidou, E; Swede, H; Fares, G; Himmelfarb, J

    2014-07-01

    In chronic kidney disease (CKD), inadequate nutritional intake, inflammation, and increased oxidative stress have been the major contributing factors in malnutrition pathogenesis. However, there is still a paucity of evidence assessing the magnitude of the effect of tooth loss on malnutrition in CKD populations. The authors hypothesize that among patients with CKD, tooth loss may affect nutritional status, using the National Health and Nutrition Examination Survey 1988 to 1994 (NHANES III). Glomerular filtration rate (GFR) was estimated based on cystatin C levels using the relevant equation. Urinary albumin-to-creatinine ratio (albuminuria) was calculated in milligrams per gram with a cutoff point of 30 mg/g. CKD was defined based on estimated GFR protein and caloric intake (P = 0.02 and 0.01, respectively). Serum albumin reached a frequency peak in the fully edentulous group without dentures (group 4, 19.2%). In the same group, individuals had lower protein (30.1%) and caloric intake (30.2%) (P = 0.01 and 0.02, respectively). Furthermore, logistic regression analysis confirmed the significant role of tooth loss on serum albumin and protein and energy intake in this population even after adjusting for confounding variables. Tooth loss independently predicts low energy and protein intake, as well as serum albumin levels, biomarkers of malnutrition in CKD.

  2. Intestinal invasion and disseminated disease associated with Penicillium chrysogenum

    Herchline Thomas E

    2005-12-01

    Full Text Available Abstract Background Penicillium sp., other than P. marneffei, is an unusual cause of invasive disease. These organisms are often identified in immunosuppressed patients, either due to human immunodeficiency virus or from immunosuppressant medications post-transplantation. They are a rarely identified cause of infection in immunocompetent hosts. Case presentation A 51 year old African-American female presented with an acute abdomen and underwent an exploratory laparotomy which revealed an incarcerated peristomal hernia. Her postoperative course was complicated by severe sepsis syndrome with respiratory failure, hypotension, leukocytosis, and DIC. On postoperative day 9 she was found to have an anastamotic breakdown. Pathology from the second surgery showed transmural ischemic necrosis with angioinvasion of a fungal organism. Fungal blood cultures were positive for Penicillium chrysogenum and the patient completed a 6 week course of amphotericin B lipid complex, followed by an extended course oral intraconazole. She was discharged to a nursing home without evidence of recurrent infection. Discussion Penicillium chrysogenum is a rare cause of infection in immunocompetent patients. Diagnosis can be difficult, but Penicillium sp. grows rapidly on routine fungal cultures. Prognosis remains very poor, but aggressive treatment is essential, including surgical debridement and the removal of foci of infection along with the use of amphotericin B. The clinical utility of newer antifungal agents remains to be determined.

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

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

    2016-01-09

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

  4. Epigenetic Alterations in Epstein-Barr Virus-Associated Diseases.

    Niller, Hans Helmut; Banati, Ferenc; Salamon, Daniel; Minarovits, Janos

    2016-01-01

    Latent Epstein-Bar virus genomes undergo epigenetic modifications which are dependent on the respective tissue type and cellular phenotype. These define distinct viral epigenotypes corresponding with latent viral gene expression profiles. Viral Latent Membrane Proteins 1 and 2A can induce cellular DNA methyltransferases, thereby influencing the methylation status of the viral and cellular genomes. Therefore, not only the viral genomes carry epigenetic modifications, but also the cellular genomes adopt major epigenetic alterations upon EBV infection. The distinct cellular epigenotypes of EBV-infected cells differ from the epigenotypes of their normal counterparts. In Burkitt lymphoma (BL), nasopharyngeal carcinoma (NPC) and EBV-associated gastric carcinoma (EBVaGC) significant changes in the host cell methylome with a strong tendency towards CpG island hypermethylation are observed. Hypermethylated genes unique for EBVaGC suggest the existence of an EBV-specific "epigenetic signature". Contrary to the primary malignancies carrying latent EBV genomes, lymphoblastoid cells (LCs) established by EBV infection of peripheral B cells in vitro are characterized by a massive genome-wide demethylation and a significant decrease and redistribution of heterochromatic histone marks. Establishing complete epigenomes of the diverse EBV-associated malignancies shall clarify their similarities and differences and further clarify the contribution of EBV to the pathogenesis, especially for the epithelial malignancies, NPC and EBVaGC.

  5. Pathogenesis of human papillomavirus-associated mucosal disease.

    Groves, Ian J; Coleman, Nicholas

    2015-03-01

    Human papillomaviruses (HPVs) are a necessary cause of carcinoma of the cervix and other mucosal epithelia. Key events in high-risk HPV (HRHPV)-associated neoplastic progression include persistent infection, deregulated expression of virus early genes in basal epithelial cells and genomic instability causing secondary host genomic imbalances. There are multiple mechanisms by which deregulated virus early gene expression may be achieved. Integration of virus DNA into host chromosomes is observed in the majority of cervical squamous cell carcinomas (SCCs), although in ∼15% of cases the virus remains extrachromosomal (episomal). Interestingly, not all integration events provide a growth advantage to basal cervical epithelial cells or lead to increased levels of the virus oncogenes E6 and E7, when compared with episome-containing basal cells. The factors that provide a competitive advantage to some integrants, but not others, are complex and include virus and host contributions. Gene expression from integrated and episomal HRHPV is regulated through host epigenetic mechanisms affecting the virus long control region (LCR), which appear to be of functional importance. New approaches to treating HRHPV-associated mucosal neoplasia include knockout of integrated HRHPV DNA, depletion of virus transcripts and inhibition of virus early gene transcription through targeting or use of epigenetic modifiers. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  6. CT findings of pancreas lipomatosis and associated diseases

    Baek, Seung Yon; Lee, Seung Chul; Kim, Mi Young; Lee, Moon Gyu; Cho, Kyoung Sik; Auh, Yong Ho

    1992-01-01

    Pancreas lipomatosis is defined as fatty replacement of pancreatic acinar cells. Of the nine cases evaluated, seven cases (77.8%) of lipomations were limited in body and tail, one case (11.1%) showed total lipomatosis, excluding uncinate process and the remaining one case (11.1%) only in tail. As to the severity of lipomatosis, complete fat replacement in body and tail was found in four cases (44.4%), incomplete body and complete tail involvement in two (22.2%), incomplete body and tail, complete all except uncinate process, and complete tail involvements were found in one case (11.1%) each. Associated or predisposing factors included three diabetes mellitus(33.3%) combined with pancreas divisum, pancreas lithiasis and cholelithiasis respectively, hepatitis (22.2%) in two, and pseudocyst (11.1%) in one case, but in three cases (33.3%) nothing was found. In conclusion, pancreas lipomations was easily diagnosed by the abdominal CT and it was associated or predisposed by several entities but had no major clinical symptoms, such as pancreatic insufficiency

  7. Association between Low Serum Bicarbonate Concentrations and Cardiovascular Disease in Patients in the End-Stage of Renal Disease

    Vaia D. Raikou

    2016-11-01

    Full Text Available Background: Metabolic acidosis, a common condition particularly in the end-stage of renal disease patients, results in malnutrition, inflammation and oxidative stress. In this study, we focused on the association between low serum bicarbonate and cardiovascular disease in patients on intermittent dialysis. Methods: We studied 52 on-line-pre-dilution hemodiafiltration (on-l HDF patients, 32 males and 20 females, with a mean age of 58.01 ± 15.4 years old. Metabolic acidosis was determined by serum bicarbonate concentrations less than 22 mmol/L. Residual renal function (RRF was defined by interdialytic urine volume. Kaplan–Meier curves and Cox regression models were performed to predict coronary artery disease (CAD, defined by ejection fraction <50%, or diastolic dysfunction congestive heart failure (CHF and peripheral vascular disease (PVD. Results: Kaplan–Meier analyses showed that a lower or higher than 22 mmol/L serum bicarbonate metabolic acidosis status was significantly associated with both PVD and diastolic dysfunction (log-rank = 5.07, p = 0.02 and log-rank = 5.84, p = 0.01, respectively. A similar prevalence of serum bicarbonate on CAD or CHF by low ejection fraction was not shown. The RRF was associated with PVD event and serum bicarbonate less than 22 mmol/L (log-rank = 5.49, p = 0.01 and log-rank = 3.9, p = 0.04, respectively. Cox regression analysis revealed that serum bicarbonate and RRF were significant risk factors for PVD after adjustment for confounders. Furthermore, RRF adjusted for covariates was shown to be a significant risk factor for diastolic dysfunction. Conclusion: Low serum bicarbonate was associated with peripheral vascular disease and diastolic dysfunction in intermittent dialysis. The residual renal function may impact patients’ outcomes through its relationship with metabolic acidosis status, particularly for peripheral vascular disease manifestation.

  8. A Disease-Associated Microbial and Metabolomics State in Relatives of Pediatric Inflammatory Bowel Disease PatientsSummary

    Jonathan P. Jacobs

    2016-11-01

    Full Text Available Background & Aims: Microbes may increase susceptibility to inflammatory bowel disease (IBD by producing bioactive metabolites that affect immune activity and epithelial function. We undertook a family based study to identify microbial and metabolic features of IBD that may represent a predisease risk state when found in healthy first-degree relatives. Methods: Twenty-one families with pediatric IBD were recruited, comprising 26 Crohn’s disease patients in clinical remission, 10 ulcerative colitis patients in clinical remission, and 54 healthy siblings/parents. Fecal samples were collected for 16S ribosomal RNA gene sequencing, untargeted liquid chromatography–mass spectrometry metabolomics, and calprotectin measurement. Individuals were grouped into microbial and metabolomics states using Dirichlet multinomial models. Multivariate models were used to identify microbes and metabolites associated with these states. Results: Individuals were classified into 2 microbial community types. One was associated with IBD but irrespective of disease status, had lower microbial diversity, and characteristic shifts in microbial composition including increased Enterobacteriaceae, consistent with dysbiosis. This microbial community type was associated similarly with IBD and reduced microbial diversity in an independent pediatric cohort. Individuals also clustered bioinformatically into 2 subsets with shared fecal metabolomics signatures. One metabotype was associated with IBD and was characterized by increased bile acids, taurine, and tryptophan. The IBD-associated microbial and metabolomics states were highly correlated, suggesting that they represented an integrated ecosystem. Healthy relatives with the IBD-associated microbial community type had an increased incidence of elevated fecal calprotectin. Conclusions: Healthy first-degree relatives can have dysbiosis associated with an altered intestinal metabolome that may signify a predisease microbial

  9. Dermatomyositis Associated with Celiac Disease: Response to a Gluten-Free Diet

    Min Soo Song

    2006-01-01

    Full Text Available The association between dermatomyositis and celiac disease in children has been well documented. In the adult population, however, the association has not been clearly established. A rare case of concomitant dermatomyositis and celiac disease in a 40-year-old woman is presented. After having been diagnosed with dermatomyositis and iron deficiency anemia, this patient was referred to the gastroenterology clinic to exclude a gastrointestinal malignancy. Blood tests revealed various vitamin deficiencies consistent with malabsorption. The results of gastroscopy with duodenal biopsy were consistent with celiac disease. After she was put on a strict gluten-free diet, both nutritional deficiencies and the dermatomyositis resolved. The patient’s human leukocyte antigen haplotype study was positive for DR3 and DQ2, which have been shown to be associated with both juvenile dermatomyositis and celiac disease. It is suggested that patients with newly diagnosed dermatomyositis be investigated for concomitant celiac disease even in the absence of gastrointestinal symptoms.

  10. Discovering disease-associated genes in weighted protein-protein interaction networks

    Cui, Ying; Cai, Meng; Stanley, H. Eugene

    2018-04-01

    Although there have been many network-based attempts to discover disease-associated genes, most of them have not taken edge weight - which quantifies their relative strength - into consideration. We use connection weights in a protein-protein interaction (PPI) network to locate disease-related genes. We analyze the topological properties of both weighted and unweighted PPI networks and design an improved random forest classifier to distinguish disease genes from non-disease genes. We use a cross-validation test to confirm that weighted networks are better able to discover disease-associated genes than unweighted networks, which indicates that including link weight in the analysis of network properties provides a better model of complex genotype-phenotype associations.

  11. Potential importance of B cells in aging and aging-associated neurodegenerative diseases.

    Biragyn, Arya; Aliseychik, Maria; Rogaev, Evgeny

    2017-04-01

    Our understanding of B cells as merely antibody producers is slowly changing. Alone or in concert with antibody, they control outcomes of seemingly different diseases such as cancer, rheumatoid arthritis, diabetes, and multiple sclerosis. While their role in activation of effector immune cells is beneficial in cancer but bad in autoimmune diseases, their immunosuppressive and regulatory subsets (Bregs) inhibit autoimmune and anticancer responses. These pathogenic and suppressive functions are not static and appear to be regulated by the nature and strength of inflammation. Although aging increases inflammation and changes the composition and function of B cells, surprisingly, little is known whether the change affects aging-associated neurodegenerative disease, such as Alzheimer's disease (AD). Here, by analyzing B cells in cancer and autoimmune and neuroinflammatory diseases, we elucidate their potential importance in AD and other aging-associated neuroinflammatory diseases.

  12. Primary biliary cirrhosis associated with Graves' disease in a male patient.

    Suzuki, Yuji; Ishida, Kazuyuki; Takahashi, Hiroshi; Koeda, Norihiko; Kakisaka, Keisuke; Miyamoto, Yasuhiro; Suzuki, Akiko; Takikawa, Yasuhiro

    2016-04-01

    Primary biliary cirrhosis (PBC), which predominantly affects women, has been associated with various autoimmune diseases. Although hypothyroidism accompanying PBC is well documented, the concomitance of PBC and hyperthyroidism is rare. Herein, we report the case of a 62-year-old man who was diagnosed with PBC several years after the development of Graves' disease. This is the first case of a male patient developing PBC with Graves' disease. Both serum alanine aminotransferase levels and serum thyroid hormone levels were normalized after the administration of thiamazole for Graves' disease. However, the cholestatic liver enzyme abnormalities continued, indicating that the PBC was actualized by the administration of thiamazole. After starting ursodeoxycholic acid treatment, cholestatic liver enzyme abnormalities improved. Taken together, when a cholestatic pattern of liver enzymes is observed during follow-up for Graves' disease, an association between Graves' disease and PBC should be considered as a differential diagnosis.

  13. Alzheimer disease and cognitive impairment associated with diabetes mellitus type 2: associations and a hypothesis.

    Domínguez, R O; Pagano, M A; Marschoff, E R; González, S E; Repetto, M G; Serra, J A

    2014-01-01

    Epidemiological studies have demonstrated that patients with diabetes mellitus have an increased risk of developing Alzheimer disease, but the relationship between the 2 entities is not clear. Both diseases exhibit similar metabolic abnormalities: disordered glucose metabolism, abnormal insulin receptor signalling and insulin resistance, oxidative stress, and structural abnormalities in proteins and β-amyloid deposits. Different hypotheses have emerged from experimental work in the last two decades. One of the most comprehensive relates the microvascular damage in diabetic polyneuritis with the central nervous system changes occurring in Alzheimer disease. Another hypothesis considers that cognitive impairment in both diabetes and Alzheimer disease is linked to a state of systemic oxidative stress. Recently, attenuation of cognitive impairment and normalisation of values in biochemical markers for oxidative stress were found in patients with Alzheimer disease and concomitant diabetes. Antidiabetic drugs may have a beneficial effect on glycolysis and its end products, and on other metabolic alterations. Diabetic patients are at increased risk for developing Alzheimer disease, but paradoxically, their biochemical alterations and cognitive impairment are less pronounced than in groups of dementia patients without diabetes. A deeper understanding of interactions between the pathogenic processes of both entities may lead to new therapeutic strategies that would slow or halt the progression of impairment. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  14. Lymphocytic Esophagitis: An emerging clinicopathologic disease associated with dysphagia

    Pasricha, Sarina; Gupta, Amit; Reed, Craig C.; Speck, Olga; Woosley, John T.; Dellon, Evan S.

    2016-01-01

    Background Lymphocytic Esophagitis (LyE) is a recently described clinicopathological condition, but little is known about its features and clinical associations. Aim To characterize patients with LyE, compare them to non-LyE controls, and identify risk factors. Methods We conducted a retrospective study of all patients ≥18 years old who underwent upper endoscopy with esophageal biopsy between January 1, 2000 and June 1, 2012. Archived pathology slides were re-reviewed and LyE was diagnosed if there was lymphocyte-predominant esophageal inflammation with no eosinophils or granulocytes. Three non-LyE controls groups were also defined: reflux, eosinophilic esophagitis (EoE), and normal. Clinical data were extracted from electronic medical records, and LyE cases were compared to non-LyE controls. Results 27 adults were diagnosed with LyE, and the majority were female (63%). The most common symptom was dysphagia (70%). 52% had a prior or current diagnosis of reflux. Endoscopic findings included strictures (37%), erosive esophagitis (33%), rings (26%), and hiatal hernia (26%); 33% of patients required dilation. After histology re-review, 78% of LyE patients were found to have more than 20 lymphs/hpf. In comparison to the normal, reflux and EoE controls, patients with LyE tended to be non-white (pdysphagia due to esophageal strictures which require dilation. Smoking was associated with LyE whereas atopy was not. LyE should be considered as a diagnostic possibility in patients with these characteristics undergoing upper endoscopy. PMID:27343035

  15. Lymphocytic Esophagitis: An Emerging Clinicopathologic Disease Associated with Dysphagia.

    Pasricha, Sarina; Gupta, Amit; Reed, Craig C; Speck, Olga; Woosley, John T; Dellon, Evan S

    2016-10-01

    Lymphocytic esophagitis (LyE) is a recently described clinicopathological condition, but little is known about its features and clinical associations. The aim of this study was to characterize patients with LyE, compare them to non-LyE controls, and identify risk factors. We conducted a retrospective study of all patients ≥18 years old who underwent upper endoscopy with esophageal biopsy between January 1, 2000, and June 1, 2012. Archived pathology slides were re-reviewed, and LyE was diagnosed if there was lymphocyte-predominant esophageal inflammation with no eosinophils or granulocytes. Three non-LyE controls groups were also defined: reflux, eosinophilic esophagitis (EoE), and normal. Clinical data were extracted from electronic medical records, and LyE cases were compared to non-LyE controls. Twenty-seven adults were diagnosed with LyE, and the majority were female (63 %). The most common symptom was dysphagia (70 %). Fifty-two percentage had a prior or current diagnosis of reflux. Endoscopic findings included strictures (37 %), erosive esophagitis (33 %), rings (26 %), and hiatal hernia (26 %); 33 % of patients required dilation. After histology re-review, 78 % of LyE patients were found to have more than 20 lymphs/hpf. In comparison with the normal, reflux and EoE controls, patients with LyE tended to be nonwhite (p dysphagia due to esophageal strictures which require dilation. Smoking was associated with LyE, whereas atopy was not. LyE should be considered as a diagnostic possibility in patients with these characteristics undergoing upper endoscopy.

  16. Absenteeism and Employer Costs Associated With Chronic Diseases and Health Risk Factors in the US Workforce

    Asay, Garrett R. Beeler; Roy, Kakoli; Lang, Jason E.; Payne, Rebecca L.; Howard, David H.

    2016-01-01

    Introduction Employers may incur costs related to absenteeism among employees who have chronic diseases or unhealthy behaviors. We examined the association between employee absenteeism and 5 conditions: 3 risk factors (smoking, physical inactivity, and obesity) and 2 chronic diseases (hypertension and diabetes). Methods We identified 5 chronic diseases or risk factors from 2 data sources: MarketScan Health Risk Assessment and the Medical Expenditure Panel Survey (MEPS). Absenteeism was measur...

  17. 1st International Symposium on Stress-Associated RNA Granules in Human Disease and Viral Infection

    Bruce W. Banfield

    2014-09-01

    Full Text Available In recent years, important linkages have been made between RNA granules and human disease processes. On June 8-10 of this year, we hosted a new symposium, dubbed the 1st International Symposium on Stress-Associated RNA Granules in Human Disease and Viral Infection. This symposium brought together experts from diverse research disciplines ranging from cancer and neuroscience to infectious disease. This report summarizes speaker presentations and highlights current challenges in the field.

  18. Mortality from respiratory infections and chronic obstructive pulmonary disease and associations with environmental quality.

    Respiratory infections (RI) and chronic obstructive pulmonary disease (COPD) have been identified by the World Health Organization as conditions which may be strongly influenced by environmental factors. We examined the associations between environmental quality and U.S. county m...

  19. 75 FR 53202 - Diseases Associated With Exposure to Certain Herbicide Agents (Hairy Cell Leukemia and Other...

    2010-08-31

    ... ICD-9-CM Medical Terminology and Codes One commenter expressed concern that VA regulations do not... Chapter of the American Parkinson Disease Association, Froedtert & The Medical College of Wisconsin, and...

  20. Familial benign chronic neutropenia associated with periodontal disease. A case report.

    Deasy, M J; Vogel, R I; Macedo-Sobrinho, B; Gertzman, G; Simon, B

    1980-04-01

    A rare case report of periodontal disease associated with familial benign chronic neutropenia is presented. The medical, dental and family histories as well as clinical and histologic observations are described and discussed.

  1. The inverse association of incident cardiovascular disease with plasma bilirubin is unaffected by adiponectin

    Dullaart, Robin P. F.; Boersema, Jeltje; Lefrandt, Joop D.; Wolffenbuttel, Bruce H. R.; Bakker, Stephan J. L.

    Objective: Bilirubin may protect against atherosclerotic cardiovascular disease (CVD). The heme oxygenase pathway is crucial for bilirubin generation, and is stimulated by adiponectin. We tested the relationship of plasma bilirubin with adiponectin, and determined whether the association of incident

  2. Common variants associated with plasma triglycerides and risk for coronary artery disease

    Do, R.; Willer, C. J.; Schmidt, E. M.

    2013-01-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common...

  3. Common variants associated with plasma triglycerides and risk for coronary artery disease

    Do, Ron; Willer, Cristen J.; Schmidt, Ellen M.; Sengupta, Sebanti; Gao, Chi; Peloso, Gina M.; Gustafsson, Stefan; Kanoni, Stavroula; Ganna, Andrea; Chen, Jin; Buchkovich, Martin L.; Mora, Samia; Beckmann, Jacques S.; Bragg-Gresham, Jennifer L.; Chang, Hsing-Yi; Demirkan, Ayşe; den Hertog, Heleen M.; Donnelly, Louise A.; Ehret, Georg B.; Esko, Tõnu; Feitosa, Mary F.; Ferreira, Teresa; Fischer, Krista; Fontanillas, Pierre; Fraser, Ross M.; Freitag, Daniel F.; Gurdasani, Deepti; Heikkilä, Kauko; Hyppönen, Elina; Isaacs, Aaron; Jackson, Anne U.; Johansson, Asa; Johnson, Toby; Kaakinen, Marika; Kettunen, Johannes; Kleber, Marcus E.; Li, Xiaohui; Luan, Jian'an; Lyytikäinen, Leo-Pekka; Magnusson, Patrik K. E.; Mangino, Massimo; Mihailov, Evelin; Montasser, May E.; Müller-Nurasyid, Martina; Nolte, Ilja M.; O'Connell, Jeffrey R.; Palmer, Cameron D.; Perola, Markus; Petersen, Ann-Kristin; Sanna, Serena; Saxena, Richa; Service, Susan K.; Shah, Sonia; Shungin, Dmitry; Sidore, Carlo; Song, Ci; Strawbridge, Rona J.; Surakka, Ida; Tanaka, Toshiko; Teslovich, Tanya M.; Thorleifsson, Gudmar; van den Herik, Evita G.; Voight, Benjamin F.; Volcik, Kelly A.; Waite, Lindsay L.; Wong, Andrew; Wu, Ying; Zhang, Weihua; Absher, Devin; Asiki, Gershim; Barroso, Inês; Been, Latonya F.; Bolton, Jennifer L.; Bonnycastle, Lori L.; Brambilla, Paolo; Burnett, Mary S.; Cesana, Giancarlo; Dimitriou, Maria; Doney, Alex S. F.; Döring, Angela; Elliott, Paul; Epstein, Stephen E.; Eyjolfsson, Gudmundur Ingi; Gigante, Bruna; Goodarzi, Mark O.; Grallert, Harald; Gravito, Martha L.; Groves, Christopher J.; Hallmans, Göran; Hartikainen, Anna-Liisa; Hayward, Caroline; Hernandez, Dena; Hicks, Andrew A.; Holm, Hilma; Hung, Yi-Jen; Illig, Thomas; Jones, Michelle R.; Kaleebu, Pontiano; Kastelein, John J. P.; Khaw, Kay-Tee; Kim, Eric; Klopp, Norman; Komulainen, Pirjo; Kumari, Meena; Langenberg, Claudia; Lehtimäki, Terho; Lin, Shih-Yi; Lindström, Jaana; Loos, Ruth J. F.; Mach, François; McArdle, Wendy L.; Meisinger, Christa; Mitchell, Braxton D.; Müller, Gabrielle; Nagaraja, Ramaiah; Narisu, Narisu; Nieminen, Tuomo V. M.; Nsubuga, Rebecca N.; Olafsson, Isleifur; Ong, Ken K.; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Rader, Daniel J.; Reilly, Muredach P.; Ridker, Paul M.; Rivadeneira, Fernando; Rudan, Igor; Ruokonen, Aimo; Samani, Nilesh; Scharnagl, Hubert; Seeley, Janet; Silander, Kaisa; Stančáková, Alena; Stirrups, Kathleen; Swift, Amy J.; Tiret, Laurence; Uitterlinden, Andre G.; van Pelt, L. Joost; Vedantam, Sailaja; Wainwright, Nicholas; Wijmenga, Cisca; Wild, Sarah H.; Willemsen, Gonneke; Wilsgaard, Tom; Wilson, James F.; Young, Elizabeth H.; Zhao, Jing Hua; Adair, Linda S.; Arveiler, Dominique; Assimes, Themistocles L.; Bandinelli, Stefania; Bennett, Franklyn; Bochud, Murielle; Boehm, Bernhard O.; Boomsma, Dorret I.; Borecki, Ingrid B.; Bornstein, Stefan R.; Bovet, Pascal; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C.; Chen, Yii-Der Ida; Collins, Francis S.; Cooper, Richard S.; Danesh, John; Dedoussis, George; de Faire, Ulf; Feranil, Alan B.; Ferrières, Jean; Ferrucci, Luigi; Freimer, Nelson B.; Gieger, Christian; Groop, Leif C.; Gudnason, Vilmundur; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B.; Hingorani, Aroon; Hirschhorn, Joel N.; Hofman, Albert; Hovingh, G. Kees; Hsiung, Chao Agnes; Humphries, Steve E.; Hunt, Steven C.; Hveem, Kristian; Iribarren, Carlos; Järvelin, Marjo-Riitta; Jula, Antti; Kähönen, Mika; Kaprio, Jaakko; Kesäniemi, Antero; Kivimaki, Mika; Kooner, Jaspal S.; Koudstaal, Peter J.; Krauss, Ronald M.; Kuh, Diana; Kuusisto, Johanna; Kyvik, Kirsten O.; Laakso, Markku; Lakka, Timo A.; Lind, Lars; Lindgren, Cecilia M.; Martin, Nicholas G.; März, Winfried; McCarthy, Mark I.; McKenzie, Colin A.; Meneton, Pierre; Metspalu, Andres; Moilanen, Leena; Morris, Andrew D.; Munroe, Patricia B.; Njølstad, Inger; Pedersen, Nancy L.; Power, Chris; Pramstaller, Peter P.; Price, Jackie F.; Psaty, Bruce M.; Quertermous, Thomas; Rauramaa, Rainer; Saleheen, Danish; Salomaa, Veikko; Sanghera, Dharambir K.; Saramies, Jouko; Schwarz, Peter E. H.; Sheu, Wayne H.-H.; Shuldiner, Alan R.; Siegbahn, Agneta; Spector, Tim D.; Stefansson, Kari; Strachan, David P.; Tayo, Bamidele O.; Tremoli, Elena; Tuomilehto, Jaakko; Uusitupa, Matti; van Duijn, Cornelia M.; Vollenweider, Peter; Wallentin, Lars; Wareham, Nicholas J.; Whitfield, John B.; Wolffenbuttel, Bruce H. R.; Altshuler, David; Ordovas, Jose M.; Boerwinkle, Eric; Palmer, Colin N. A.; Thorsteinsdottir, Unnur; Chasman, Daniel I.; Rotter, Jerome I.; Franks, Paul W.; Ripatti, Samuli; Cupples, L. Adrienne; Sandhu, Manjinder S.; Rich, Stephen S.; Boehnke, Michael; Deloukas, Panos; Mohlke, Karen L.; Ingelsson, Erik; Abecasis, Goncalo R.; Daly, Mark J.; Neale, Benjamin M.; Kathiresan, Sekar

    2013-01-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common

  4. The burden of Campylobacter-associated disease in six European countries

    Mangen, M. J J; Havelaar, A. H.; Haagsma, J. A.; Kretzschmar, M. E E

    2016-01-01

    Background Foodborne pathogens cause significant morbidity and mortality worldwide. Economic evaluations of interventions for Campylobacter are scarce. The aim of this study was to estimate the burden of disease associated with thermophilic Campylobacter spp. in Denmark, the Netherlands, Norway,

  5. Association of congenit anomalia anus rectal with Hirschsprung's disease: a case report

    Abbud, E.A.; Sales, C.R.V. de; Goncalves, E.G.

    1989-01-01

    The recognition of Hirschsprung's disease is often delayed in children with imperforated anus. Because of this rare association, it is reported one case in which its occurred in conjunction with Down's syndrome. (author) [pt

  6. Nonallergic rhinitis and its association with smoking and lower airway disease: A general population study

    Håkansson, Kåre; von Buchwald, Christian; Thomsen, Simon F

    2011-01-01

    The cause of nonallergic rhinitis (NAR) and its relation to lower airway disease remains unclear. The purpose of this study was to perform a descriptive analysis of the occurrence of rhinitis in a Danish general population with focus on NAR and its association with smoking and lower airway disease....

  7. Osteomesopyknosis associated to renal lithiasis. Case report. Differential diagnosis of the axial osteoesclerosant diseases

    Quintana, Gerardo; Fernandez, Andres; Restrepo, Jose Felix; Rojas, Adriana; Calvo, Enrique; Rondon, Federico; Sanchez, Alvaro; Forero, Elias; Iglesias, Antonio

    2004-01-01

    In this article we present a brief description of the bone diseases characterized by osteosclerosis. We present our experience with their morpho-radiological changes, we describe a case of osteomesopyknosis associated to renal lithiasis and we propose a classification for osteosclerosant diseases of the axial skeleton with practical differential diagnosis of these conditions

  8. Mercury in Hair Is Inversely Related to Disease Associated Damage in Systemic Lupus Erythematosus

    William Crowe

    2015-12-01

    Full Text Available Systemic lupus erythematosus (SLE is an autoimmune inflammatory disease, and environmental factors are proposed to exacerbate existing symptoms. One such environmental factor is mercury. The aim of this study was to investigate the relationship between exposure to mercury (Hg and disease activity and disease associated damage in Total Hg concentrations in hair and urine were measured in 52 SLE patients. Dental amalgams were quantified. Disease activity was assessed using three indexes including the British Isles Lupus Assessment Group Index (BILAG. Disease associated damage was measured using the Systemic Lupus International Collaborating Clinics/American College of Rheumatology SLICC/ACR Damage Index. Pearson’s correlation identified a significant negative correlation between hair Hg and BILAG (r = −0.323, p = 0.029 and SLICC/ACR (r = −0.377, p = 0.038. Multiple regression analysis identified hair Hg as a significant predictor of disease associated damage as determined by SLICC/ACR (β = −0.366, 95% confidence interval (CI: −1.769, −0.155 p = 0.019. Urinary Hg was not related to disease activity or damage. Fish consumption is the primary route of MeHg exposure in humans and the inverse association of hair Hg with disease activity observed here might be explained by the anti-inflammatory effects of n-3 long chain polyunsaturated fatty acids also found in fish.

  9. Neurocognitive Deficits in Children With Sickle Cell Disease Are Associated With the Severity of Anemia

    Hijmans, Channa T.; Grootenhuis, Martha A.; Oosterlaan, Jaap; Heijboer, Harriët; Peters, Marjolein; Fijnvandraat, Karin

    2011-01-01

    Background. Although neurocognitive deficits in children with sickle cell disease (SCD) have been well documented, the etiology of these deficits has not been completely clarified. The aim of this study was to investigate the association of laboratory markers of disease severity and radiological

  10. The association between uric acid levels and different clinical manifestations of coronary artery disease

    Larsen, Trine R; Gerke, Oke; Diederichsen, Axel C P

    2018-01-01

    AIMS: Uric acid (UA) has been associated with the presence and severity of coronary artery disease. To further assess the role of UA role in coronary artery disease, we investigated UA levels in both healthy asymptomatic middle-aged individuals and in different subgroups of hospitalized patients...

  11. Disease Patterns and Socioeconomic Status Associated with Utilization of Computed Tomography in Taiwan, 1997–2003

    Pei-Tseng Kung

    2008-02-01

    Conclusion: Neoplasm, diseases of the circulatory system, congenital malformations, and poor socioeconomic status were significantly associated with a higher rate of CT utilization. The distribution of disease patterns varied with gender, age groups, salary levels, and health care region's household income levels. Further study is needed to better understand the nature of the findings.

  12. Fungal pathogen complexes associated with rambutan, longan and mango diseases in Puerto Rico

    Different fungi have been associated with diseased inflorescences, leaves, and fruits of mango, rambutan and longan. During a fungal disease survey conducted between 2008 and 2013 at six orchards of rambutan and longan, and one orchard of mango in Puerto Rico, symptoms such as fruit rot, infloresc...

  13. The association between early menopause and risk of ischaemic heart disease: Influence of Hormone Therapy

    Løkkegaard, Ellen Christine Leth; Andersen, Zorana Jovanovic; Heitmann, Berit Lilienthal

    2006-01-01

    Randomised clinical trials find no protection against development of ischaemic heart disease by use of Hormone Therapy (HT) after the age of 50 years. Observational studies suggest that early menopause is a risk factor for ischaemic heart disease. Yet, a clinical very relevant question is whether...... HT reduces this risk associated with early menopause....

  14. Patient Age, Sex, and Inflammatory Bowel Disease Phenotype Associate With Course of Primary Sclerosing Cholangitis

    Weismueller, Tobias J.; Trivedi, Palak J; Bergquist, Annika; Imam, Mohamad; Lenzen, Henrike; Ponsioen, Cyriel Y.; Holm, Kristian; Gotthardt, Daniel; Faerkkilae, Martti A.; Marschall, Hanns-Ulrich; Thorburn, Douglas; Weersma, Rinse K.; Fevery, Johan; Mueller, Tobias; Chazouilleres, Olivier; Schulze, Kornelius; Lazaridis, Konstantinos N.; Almer, Sven; Pereira, Stephen P.; Levy, Cynthia; Mason, Andrew L.; Naess, Sigrid; Bowlus, Christopher L.; Floreani, Annarosa; Halilbasic, Emina; Yimam, Kidist K.; Milkiewicz, Piotr; Beuers, Ulrich; Huynh, Dep K.; Pares, Albert; Manser, Christine N.; Dalekos, George N.; Eksteen, Bertus; Invernizzi, Pietro; Berg, Christoph P.; Kirchner, Gabi I.; Sarrazin, Christoph; Zimmer, Vincent; Fabris, Luca; Braun, Felix; Marzioni, Marco; Juran, Brian D.; Said, Karouk; Rupp, Christian; Jokelainen, Kalle; de Valle, Maria Benito; Saffioti, Francesca; Cheung, Angela; Trauner, Michael; Schramm, Christoph; Chapman, Roger W.; Karlsen, Tom H.; Schrumpf, Erik; Strassburg, Christian P.; Manns, Michael P.; Lindor, Keith D; Hirschfield, Gideon M.; Hansen, Bettina E.; Boberg, Kirsten M.

    BACKGROUND & AIMS: Primary sclerosing cholangitis (PSC) is an orphan hepatobiliary disorder associated with inflammatory bowel disease (IBD). We aimed to estimate the risk of disease progression based on distinct clinical phenotypes in a large international cohort of patients with PSC. METHODS: We

  15. Patient Age, Sex, and Inflammatory Bowel Disease Phenotype Associate With Course of Primary Sclerosing Cholangitis

    Weismuller, Tobias J.; Trivedi, Palak J.; Bergquist, Annika; Imam, Mohamad; Lenzen, Henrike; Ponsioen, Cyriel Y.; Holm, Kristian; Gotthardt, Daniel; Farkkila, Martti A.; Marschall, Hanns-Ulrich; Thorburn, Douglas; Weersma, Rinse K.; Fevery, Johan; Mueller, Tobias; Chazouilleres, Olivier; Schulze, Kornelius; Lazaridis, Konstantinos N.; Almer, Sven; Pereira, Stephen P.; Levy, Cynthia; Mason, Andrew; Naess, Sigrid; Bowlus, Christopher L.; Floreani, Annarosa; Halilbasic, Emina; Yimam, Kidist K.; Milkiewicz, Piotr; Beuers, Ulrich; Huynh, Dep K.; Pares, Albert; Manser, Christine N.; Dalekos, George N.; Eksteen, Bertus; Invernizzi, Pietro; Berg, Christoph P.; Kirchner, Gabi I.; Sarrazin, Christoph; Zimmer, Vincent; Fabris, Luca; Braun, Felix; Marzioni, Marco; Juran, Brian D.; Said, Karouk; Rupp, Christian; Jokelainen, Kalle; Benito de Valle, Maria; Saffioti, Francesca; Cheung, Angela; Trauner, Michael; Schramm, Christoph; Chapman, Roger W.; Karlsen, Tom H.; Schrumpf, Erik; Strassburg, Christian P.; Manns, Michael P.; Lindor, Keith D.; Hirschfield, Gideon M.; Hansen, Bettina E.; Boberg, Kirsten M.

    2017-01-01

    Primary sclerosing cholangitis (PSC) is an orphan hepatobiliary disorder associated with inflammatory bowel disease (IBD). We aimed to estimate the risk of disease progression based on distinct clinical phenotypes in a large international cohort of patients with PSC. We performed a retrospective

  16. Discovering disease associations by integrating electronic clinical data and medical literature.

    Antony B Holmes

    Full Text Available Electronic health record (EHR systems offer an exceptional opportunity for studying many diseases and their associated medical conditions within a population. The increasing number of clinical record entries that have become available electronically provides access to rich, large sets of patients' longitudinal medical information. By integrating and comparing relations found in the EHRs with those already reported in the literature, we are able to verify existing and to identify rare or novel associations. Of particular interest is the identification of rare disease co-morbidities, where the small numbers of diagnosed patients make robust statistical analysis difficult. Here, we introduce ADAMS, an Application for Discovering Disease Associations using Multiple Sources, which contains various statistical and language processing operations. We apply ADAMS to the New York-Presbyterian Hospital's EHR to combine the information from the relational diagnosis tables and textual discharge summaries with those from PubMed and Wikipedia in order to investigate the co-morbidities of the rare diseases Kaposi sarcoma, toxoplasmosis, and Kawasaki disease. In addition to finding well-known characteristics of diseases, ADAMS can identify rare or previously unreported associations. In particular, we report a statistically significant association between Kawasaki disease and diagnosis of autistic disorder.

  17. Markers of disease severity are associated with malnutrition in Parkinson's disease.

    Jamie M Sheard

    Full Text Available OBJECTIVE: In Parkinson's disease (PD, commonly reported risk factors for malnutrition in other populations commonly occur. Few studies have explored which of these factors are of particular importance in malnutrition in PD. The aim was to identify the determinants of nutritional status in people with Parkinson's disease (PWP. METHODS: Community-dwelling PWP (>18 years were recruited (n = 125; 73M/52F; Mdn 70 years. Self-report assessments included Beck's Depression Inventory (BDI, Spielberger Trait Anxiety Inventory (STAI, Scales for Outcomes in Parkinson's disease-Autonomic (SCOPA-AUT, Modified Constipation Assessment Scale (MCAS and Freezing of Gait Questionnaire (FOG-Q. Information about age, PD duration, medications, co-morbid conditions and living situation was obtained. Addenbrooke's Cognitive Examination (ACE-R, Unified Parkinson's Disease Rating Scale (UPDRS II and UPDRS III were performed. Nutritional status was assessed using the Subjective Global Assessment (SGA as part of the scored Patient-Generated Subjective Global Assessment (PG-SGA. RESULTS: Nineteen (15% were malnourished (SGA-B. Median PG-SGA score was 3. More of the malnourished were elderly (84% vs. 71% and had more severe disease (H&Y: 21% vs. 5%. UPDRS II and UPDRS III scores and levodopa equivalent daily dose (LEDD/body weight (mg/kg were significantly higher in the malnourished (Mdn 18 vs. 15; 20 vs. 15; 10.1 vs. 7.6 respectively. Regression analyses revealed older age at diagnosis, higher LEDD/body weight (mg/kg, greater UPDRS III score, lower STAI score and higher BDI score as significant predictors of malnutrition (SGA-B. Living alone and higher BDI and UPDRS III scores were significant predictors of a higher log-adjusted PG-SGA score. CONCLUSIONS: In this sample of PWP, the rate of malnutrition was higher than that previously reported in the general community. Nutrition screening should occur regularly in those with more severe disease and depression. Community

  18. Reducing the risk of Legionnaires' disease associated with cooling towers

    Freije, M.R. [HC Information Resources Inc., Carlsbad, CA (United States)

    2008-08-15

    To reduce the health and legal risks associated with Legionnaires' disease, facility managers should take steps to minimize Legionella bacteria in plumbing systems, open industrial equipment, water features, cooling towers, and other aerosolizing water systems. The risk of Legionnaires' disease associated with cooling towers can be reduced by controlling Legionella bacteria in cooling water and preventing transmission of the bacteria from towers to people. This paper presents nine reasonable ways to accomplish these goals. (orig.)

  19. G2D: a tool for mining genes associated with disease

    Perez-Iratxeta, Carolina; Wjst, Matthias; Bork, Peer; Andrade, Miguel A

    2005-01-01

    Abstract Background Human inherited diseases can be associated by genetic linkage with one or more genomic regions. The availability of the complete sequence of the human genome allows examining those locations for an associated gene. We previously developed an algorithm to prioritize genes on a chromosomal region according to their possible relation to an inherited disease using a combination of data mining on biomedical databases and gene sequence analysis. Results We have implemented this ...

  20. Differential susceptibility according to gender in the association between air pollution and mortality from respiratory diseases

    Oliveira,Marcio Sacramento de; Leon,Antônio Ponce de; Mattos,Inês Echenique; Koifman,Sérgio

    2011-01-01

    This study analyzed the association between air pollution and deaths from respiratory diseases, considering differential susceptibility according to gender. The authors used daily deaths from respiratory diseases (ICD-10, J00-J99), PM10, SO2, and O3 levels, and meteorological indicators in Volta Redonda, Rio de Janeiro State, Brazil, from January 2002 to December 2006. The association was estimated by Poisson regression using generalized additive models, where the increase in risk of deaths f...