Exome sequence analysis in consanguineous Pakistani families inheriting Bardet ‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

ConclusionWe speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan. Based on these findings, we suggest developing a molecular diagnostic test that may be used for premarital and prenatal screening of families at risk of BBS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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IJERPH, Vol. 16, Pages 4540: Functional Status and Body Mass Index in Postmenopausal Women with Fibromyalgia: A Case–control Study International Journal of Environmental Research and Public Health doi: 10.3390/ijerph16224540 Authors: Laura Cerón Lorente María Carmen García Ríos Santiago Navarro Ledesma Rosa María Tapia Haro Antonio Casas Barragán María Correa-Rodríguez María Encarnación Aguilar Ferrándiz Reduced functional capacity is a common characteristic of fibromyalgia (FMS). We aimed to investigate the relationship ...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
Conclusions/interpretationReducing the burden of diabetes could result in substantial reductions in the incidence of dementia and disability over the medium to long term.
Source: Diabetologia - Category: Endocrinology Source Type: research
AbstractThe global prevalence of migraine as a primary headache has been estimated as 14.4% in both sexes. Migraine headache has been ranked as the highest contributor to disability in under 50  years old population in the world. Extensive research has been conducted in order to clarify the pathological mechanisms of migraine. Although uncertainties remains, it has been indicated that vascular dysfunction, cortical spreading depression (CSD), activation of the trigeminovascular pathway, pro-inflammatory and oxidative state may play a putative role in migraine pain generation. Knowledge about pathophysiological mecha...
Source: The Journal of Headache and Pain - Category: Neurology Source Type: research
Knee osteoarthritis (KOA) is a chronic pain condition that is one of the leading causes of physical impairment and disability across the world.40 The prevalence of KOA is expected to continuously escalate due to population aging and increases in obesity rates.63 Women are particularly at-risk for developing chronic pain and KOA.20,43 Further, women generally report higher pain-related symptoms (including KOA symptoms57), evoked-pain sensitivity, and lower pain tolerance compared to men.20,43
Source: The Journal of Pain - Category: Materials Science Authors: Tags: Original Reports Source Type: research
Authors: Bluethmann SM, Foo W, Winkels RM, Mama SK, Schmitz KH Abstract PURPOSE: (a) To describe the relationship of multimorbidity and physical activity (PA) in cancer survivors and (b) to explore perceived disability and PA in middle-aged and older survivors. METHODS: The authors analyzed the data from cancer survivors (N = 566), identified using the Pennsylvania Cancer Registry, who responded to a Behavioral Risk Factor Surveillance System-derived questionnaire. They created age groups (e.g., 45-54 years, 55-64 years, 65-74 years, and 75 years and older) and calculated a composite score of eig...
Source: Journal of Aging and Physical Activity - Category: Geriatrics Tags: J Aging Phys Act Source Type: research
AbstractBackgroundBariatric surgery is proven to be the most effective strategy for management of obesity and its related comorbidities. However, in Canada, patients awaiting bariatric surgery can be subjected to prolonged wait times, thereby subjecting them to increased morbidity and mortality, as well as decreased psychosocial well-being.ObjectiveTo assess the factors associated with prolonged wait times for bariatric surgery within a publicly funded, provincial bariatric network.MethodsThis was a retrospective population-based study of all patients aged> 18 years who were referred for bariatric surgery from April 200...
Source: Obesity Surgery - Category: Surgery Source Type: research
Conclusion: The more vulnerable segments to the co-occurrence of the risk factors studied were men residing in the southern region of the country, individuals with a lower socioeconomic status and those who reported binge drinking. Interventions addressing multiple behavioral risk factors adapted to specific contexts could have a greater impact on the Brazilian population.Resumo Fundamentos: O tabagismo e a alimenta ção inadequada integram os fatores comportamentais de risco responsáveis pela maioria das mortes e das incapacidades causadas por doenças crônicas não transmissív...
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
Conclusion: The more vulnerable segments to the co-occurrence of the risk factors studied were men residing in the southern region of the country, individuals with a lower socioeconomic status and those who reported binge drinking. Interventions addressing multiple behavioral risk factors adapted to specific contexts could have a greater impact on the Brazilian population.Resumo Fundamentos: O tabagismo e a alimenta ção inadequada integram os fatores comportamentais de risco responsáveis pela maioria das mortes e das incapacidades causadas por doenças crônicas não transmissív...
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
AbstractPurpose of ReviewObesity in the older adult is a burgeoning health epidemic that leads to increased morbidity, disability, and institutionalization. This review presents a brief overview of geriatric-specific consequences of obesity by highlighting the risks and benefits of intentional weight loss.Recent FindingsIntentional weight loss reduces the extent of adiposity-related illnesses, yet the approach in older adults is fraught with challenges. Interventions combining caloric restriction and physical exercise (aerobic and resistance) maximize fat loss and minimize loss of muscle and bone. Interventions are also ef...
Source: Current Diabetes Reports - Category: Endocrinology Source Type: research
Nearly half of all premature deaths may be due to unhealthy lifestyle choices, such as insufficient exercise, poor diet, and smoking. These risk factors increase the risk of high blood pressure, diabetes, heart attack, and stroke. The good news is that lifestyle changes can make a difference. In a study analyzing over 55,000 people, those with favorable lifestyle habits such as not smoking, not being obese, engaging in regular physical activity, and eating a healthy diet lowered their heart disease risk by nearly 50%. The American College of Cardiology (ACC) and the American Heart Association (AHA) recently published guide...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Alcohol Diabetes Exercise and Fitness Heart Health Hypertension and Stroke Smoking cessation Source Type: blogs
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