BACKGROUND It remains unclear whether the body mass index (BMI) and blood pressure (BP) profile are clustered within families in Chinese Han population. The aim of this study is to explore familial aggregation and parent-offspring correlations of BMI and blood pressure in Chinese Han population. METHODS 6,369 Han nucleus families, consisting of parents and at least one biological adult child ...

INTRODUCTION Von Hippel-Lindau disease (VHL) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the VHL tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. Patients are at risk of developing cerebellar, spinal and retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, pancreatic an...

CLINICAL DESCRIPTION KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormali...

Results 16 patients (12H, 4F) with a median age of 41 years [2961] were included. Patients were Sefarad Jews (n=9), Turkish (n=2) and Arabic (n=5). Seven of them had a familial history of FMF, none had a familial history of auto-immune diseases. Their FMF was symptomatic during childhood except for two patients; most of them had colchicine. They displayed various type of vasculitis such as: HSP...

OBJECTIVE To characterize juvenile idiopathic arthritis (JIA) patients from multicase families. METHODS The study series comprised 80 affected siblings belonging to 37 families. Comparisons were made with a population-based series of JIA patients from Finland and with a sibling series from the United States. RESULTS The distribution of cases according to onset type was similar in the siblin...

BACKGROUND In recent studies, familial coinfection with the same Helicobacter pylori strains has been indicated, but more data are necessary to confirm intra-familial spread of the micro-organism. AIMS The aim of this study was (a) to assess the frequency of H pylori infection in spouses of patients with duodenal ulcers and (b) to investigate the possibility of intraspousal typing of the resp...

BACKGROUND Alzheimer's disease has been thought to have familial and sporadic forms, and several genetic defects have been identified that chiefly explain early-onset familial cases. In this study, our purpose was to detect all cases of dementia in an established twin registry and to estimate total extent of genetic contribution to liability to Alzheimer's disease. METHODS At the first stage,...

Background Premature ovarian failure (POF) is a disorder of multi causal etiology. Autoimmunity has been proposed as a mechanism for some cases of ovarian follicle dysfunction which is evident in POF. The aim of this study was to identify the level of auto-antibodies in POF and familial POF patients. MaterialsAndMethods In this study, auto-antibodies including anti-ovarian antibody (AOA), anti ...

Increasing evidence indicates an excitatory/inhibitory imbalance may have a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS). Impaired inhibitory circuitry is consistently reported in the motor cortex of both familial and sporadic patients, closely associated with cortical hyperexcitability and ALS onset. Inhibitory network dysfunction is presumably mediated by intra-cor...

It is common to observe the clustering of chronic hepatitis B surface antigen (HBsAg) carriers in families. Intra-familial transmission of hepatitis B virus (HBV) could be the reason for the familial clustering of HBsAg carriers. Additionally, genetic and gender factors have been reported to be involved. We conducted a three-stage genome-wide association study to identify genetic factors associ...