نتایج جستجو برای: familial characteristics
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OBJECTIVE The purpose of this study was to evaluate the characteristics and surgical outcomes of familial hemifacial spasm (HFS) and to discuss the role of genetic susceptibility. METHODS Between 2001 and 2011, 20 familial HFS patients with ten different pedigrees visited our hospital. The data from comprehensive evaluation of these patients, including clinical, radiological and electrophysio...
familial defective apolipoprotein (apo) b 100 (fdb) causes early-onset coronary heart diseases (chd). it is produced by r3500q mutation of the apob gene resulting in decreased binding of ldl to ldl receptor. we screened the apo b gene for r3500q mutation in 130 hypercholesterolemic patients, among whom 30 patients met criteria of familial hypercholesterolemia (fh). the prevalence of r3500q alle...
OBJECTIVES Familial aggregation of testicular germ cell tumor (TGCT) has been reported, but it is unclear if familial TGCT represents a unique entity with distinct clinicopathologic characteristics. Here we describe a collection of familial TGCT cases from an international consortium, in an effort to elucidate any clinical characteristics that are specific to this population. MATERIALS AND ME...
Primary aldosteronism (PA) is the most frequent cause of secondary hypertension, and patients display an increased prevalence of cardiovascular events compared with essential hypertensives. To date, 3 familial forms of PA have been described and termed familial hyperaldosteronism types I, II, and III (FH-I to -III). The aim of this study was to investigate the prevalence and clinical characteri...
Aims Precocious puberty is defined as the precocious onset of pubertal manifestations. The cause of precocious puberty is unknown despite numerous attempts to find it. Despite most precocious puberty is sporadic disease, some patients have familial tendency. Recently specific gene mutation has proven to cause precocious puberty and the existence of familial precocious puberty is emerging. This ...
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...
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