Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial perio...

TreacherCollins Syndrome (TCS) is a rare autosomal dominant disorder of craniofacial morphogenesis. The frequency of TCS is 1 in 50,000 live births. Approximately half of cases arise as a result of sporadic mutation; the rest are familial. TCS is caused by a mutation in a TCOFI gene on chromosomes 5q31.3-32. The severely affected persons show classic physical characteristics and mildly affected...

Background Familial Amyloid Polyneuropathy (FAP ATTRV30M) is an AD systemic amyloidosis, due to a point mutation in the transthyretin (TTR) gene. Although in Portugal the disease has been characterized by its early onset (lower than 40yrs), a wider age-at-onset (AO) variability has been uncovered. The mean AO is 35.3, but more and more late-onset (higher than 50yrs) cases are being ascertained,...

OBJECTIVES The aim of the study was to screen 36 unrelated patients with hypertrophic cardiomyopathy (HCM; 16 familial and 20 sporadic cases) from a genetically homogeneous area in eastern Finland for variants in the cardiac beta-myosin heavy chain (beta-MHC) and alpha-tropomyosin (alpha-TM) genes. BACKGROUND Mutations in the beta-MHC and alpha-TM genes have been reported to be responsible fo...

BACKGROUND We used contemporary family-epidemiological methods to examine patterns of comorbidity and familial aggregation of psychiatric disorders for anorexia and bulimia nervosa. METHODS Direct interviews and blind best-estimate diagnostic procedures were used with diagnostically "pure" groups of probands with eating disorders and a matched control group. Lifetime prevalence rates of eatin...

BACKGROUND Case-control studies of familial cancer risk traditionally rely on self-reported family history of cancer, which may bias results due to differential recall between case patients and control subjects. To evaluate the reliability of self-reported data, we analyzed questionnaire and registry-based data on familial cancer from a population-based case-control study of malignant lymphoma....

BACKGROUND Many single-nucleotide polymorphisms have been associated with coronary artery disease (CAD)/myocardial infarction (MI) by genome-wide association studies, but the diagnostic value of these variants is limited. Functional single-nucleotide polymorphism R952Q in LRP8 is associated with familial and early-onset CAD/MI. The objective of this study is to test whether fine mapping and hap...

BACKGROUND Prostate cancer is a common and often deadly cancer. Decades of study have yet to identify genes that explain much familial prostate cancer. Traditional linkage analysis of pedigrees has yielded results that are rarely validated. We hypothesize that there are rare segregating variants responsible for high-risk prostate cancer pedigrees, but recognize that within-pedigree heterogeneit...

BACKGROUND AND PURPOSE The aim of our study was to compare outcome and its determinants in familial subarachnoid hemorrhage and in sporadic subarachnoid hemorrhage in a large and well-documented patient population. METHODS Patients with aneurysmal subarachnoid hemorrhage (SAH) treated at the Department of Neurosurgery, Kuopio University Hospital, from 1977 to 1995 were included. Patients with...

Background: The aim of this study is to assess the relationships between familial types and dietary quality measured by Korean Healthy Eating Index (KHEI) in representative elderly.Methods: We used cross-sectional data from 4,260 elderly, aged over 65 years, who had participated 2016-2018 Korea National Health Nutrition Examination Survey. 14-item KHEI scores were calculated Food Frequency Ques...