BACKGROUND Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). METHODS We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck para...

The development of genetic testing has given patients with familial endocrine diseases the opportunity to be identified earlier in life. The importance of this technological advancement cannot be underestimated, as some of these heritable diseases have significant potential for malignancy. This article focuses on the identification and surgical management of familial endocrinopathies of the thy...

myelodysplastic syndrome (mds), is a group of heterogeneous disorders of hematopoietic stem cell colonies which is determined by incomplete hematopoiesis in one or more cell lines. the incidence increases with age and it has less been reported among patients under 50 years of age. the commonest form of mds is sporadic, and familial occurrence of mds is rare. patients with familial mds are young...

conclusions this case showed the effect of additional anakinra on children with fmf who were colchicine resistant. case presentation herein was reported a colchicine non-responsive patient with accurate diagnosis and early treatment of fmf. she had presented with recurrent and persistent acute abdominal pain attacks and several abdominal surgeries. addition of recombinant interleukin-1 receptor...

background: although parental obesity is a well-established predisposing factor for the development of obesity, associations between regional body compositions, resting metabolic rates (rmr), and physical activity (pa) of parents and their pre-school children remain unknown. the objective of this study was to investigate parent-child correlations for total and regional body compositions, restin...

Background: childhood aggression, particularly in preschoolers, is one of the most common behavioral problems throughout the world. Therefore, it is important to identify the predictors of this problem. This study was conducted to determine the predictors of physical and verbal aggression in preschoolers. Methods: This descriptive cross-sectional study was conducted on preschoolers in Rasht ...

Background: Psoriasis is a chronic autoimmune skin disorder with relapsing erythematous scaling plaques and joint or nail involvement. A greater occurrence of other autoimmune diseases has been reported in these patients. Additionally, their family members are more likely to be diagnosed with psoriasis. The aimof this study is to assess the prevalence of certain autoimmune diseases in first deg...

Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset of coronary hear...

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...