BACKGROUND Parkinson disease (PD) is a clinically well-documented neurodegenerative disorder. However, the mechanism or mechanisms of its phenotypic expressions are still unknown. OBJECTIVE To compare phenotypes by examining demographic and clinical features of patients with familial PD and sporadic PD and with or without a family history of PD. DESIGN Historical review of patients with spo...

BACKGROUND AND AIMS Family studies are well suited to investigate the genetic architecture underlying the metabolic syndrome (MetS). The purposes of this paper were (i) to estimate heritabilities for each of the MetS indicators, and (ii) to test the significance of familial intratrait and cross-trait correlations in MetS markers. METHODS AND RESULTS This study included 1,363 individuals from ...

BACKGROUND Type 2 diabetes mellitus (T2DM) has a strong genetic component, and its prevalence is notably increased in the family members of T2DM patients. However, there are few studies about the family history of T2DM. We carried out this study to assess the influences of family history on clinical characteristics in T2DM patients. METHODS This is a cross-sectional study involving 651 T2DM p...

BACKGROUND Reaction time (RT) variability is one of the strongest findings to emerge in cognitive-experimental research of attention deficit hyperactivity disorder (ADHD). We set out to confirm the association between ADHD and slow and variable RTs and investigate the degree to which RT performance improves under fast event rate and incentives. Using a group familial correlation approach, we te...

BACKGROUND A thymidine to cytosine transition (designated A2 variant) in the promoter region of CYP17 has previously been associated with a familial history of prostate cancer in North American families. The purpose of the present study was to determine whether this correlation could be replicated in a European population. MATERIALS AND METHODS Case-control comparisons were performed by model...

BACKGROUND Seven affected members are described from a kindred with autosomal dominant familial Alzheimer's disease associated with a novel mutation in the presenilin 1 (PS1) gene on chromosome 14 that results in a leucine to serine substitution at codon 250 (L250S). METHOD Clinical information on the pedigree was collected directly from family members including affected members and their car...

UNLABELLED Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing...

BACKGROUND It is well known that familial sick sinus syndrome (SSS) is caused by functional alterations of ion channels and gap junction. Limited information is available on the mechanism of age-related non-familial SSS. Although evidence shows a close link between arrhythmia and the renin-angiotensin system (RAS), it remains to be determined whether the RAS is involved in the pathogenesis of n...

BACKGROUND Family history is the strongest risk factor for ovarian cancer. Recent evidence suggests that unidentified BRCA1/2 variations or other genetic events may contribute to familial ovarian cancers. Allelic imbalance (AI) of BRCA1/2 expression, a result of a significant decrease in the ratios between the expression from one allele of BRCA1/2 and the other allele, has been observed in brea...

case presentation a ten-year-old iranian boy was referred to our department with history of recurrent abdominal pain followed by fever, chills, arthralgia and scrotal edema. he suffered from hematuria and gastrointestinal bleeding. his physical exam revealed fever (axillary temperature: 38.7°c), hypertension (150/90 mmhg), hepatomegaly (liver span: 13 cm), orchitis and subcutaneous painful nodu...