Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...

patients and methods this cross-sectional study was performed on 1202 ms patients in farshchian hospital, hamadan, in 2013. all patients were diagnosed with definite ms. a questionnaire was used to gather information; demographic characteristics, medical history, signs and symptoms at onset, course of disease, relatives with ms, and degree and type of relationship were recorded. conclusions the...

Paragangliomas are neuroendocrine tumours and those occurring in the head and neck have well recognized familial association. Retroperitoneal paragangliomas are uncommon and we present two cases of familial malignant retroperitoneal paraganglioma. Review of the literature revealed marked differences in the incidence and malignant potential of familial and non-familial paraganglioma. In contrast...

extended abstract 1- introduction power is regarded as an important social variable when studying any social structure and institution. accordingly, distribution of power in family structure has a great importance and could affect many familial experiences such as development of personality, socialization, self-esteem, solidarity, satisfaction, happiness, etc. (mahdavi & saboori khosroshahi, 20...

Plasma lipoprotein concentration, composition, and size were evaluated in two common familial forms of hypertriglyceridemia and compared with those in normal subjects. The very low density lipoproteins (VLDL) were triglyceride-enriched in familial hypertriglyceridemia (triglyceride/apoprotein B ratio: 25.7 +/- 8.9) as compared to normal (9.6 +/- 12.2, P < 0.001) or familial combined hyperlipide...

Familial hypertriglyceridemia is rare in infancy. Diagnosis infancy very difficult and usually diagnosed when acute pancreatitis sets in. Early diagnosis important as it can prevent the complications associated with pancreatic necrosis. Here a case familial an infant who presented to us failure thrive but was early due presence of highly viscous milky blood. This holds importance treatment redu...

Familial follicular cell-derived well-differentiated thyroid cancer, papillary (PTC), and follicular thyroid carcinomas (FTC), accounts for 95% of thyroid malignancies. The majority of are sporadic, and at least 5% of these patients will have familial disease. Familial thyroid syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C cells, a...

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of familial Cushing's syndrome. It is characterized by bilateral adrenocortical hyperplasia with small to normal-sized adrenal glands containing multiple small adrenal cortical pigmented nodules [1,2]. PPNAD may occur in an isolated form or as familial PPNAD. Familial cases of PPNAD are usually associated with Carney compl...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : there is a lack of data on familial aggregation of colorectal cancer (crc) in iran. we aimed to determine the frequency of hereditary nonpolyposis colorectal cancer (hnpcc) and familial colorectal cancer (fcc) and to determine the frequency of extracolonic cancers in these families in isfahan. methods : we rev...