نتایج جستجو برای: familial characteristics
تعداد نتایج: 713247 فیلتر نتایج به سال:
OBJECTIVE To verify the existence of sporadic cases of temporal lobe epilepsy (TLE) of possible idiopathic nature with onset in adult life and to define their characteristics. BACKGROUND Currently, the existence of these forms is not fully recognized. In the last few years, familial cases of TLE of the early adult age have been described. Besides, sporadic cases of TLE characterized by both o...
در بیماری als نیز بیماران مبتلا دارای تجمعات پروتئینی در جسم سلولی و آکسونهای نورونهای حرکتی بافت عصبی خود می باشند که بطور عمده متشکل از آنزیم سوپراکسید دیسموتاز 1 (sod1) است. جهش در ژن sod1 در 20% از موارد familial als (fals) مشاهده می شود و به عنوان یک عامل مهم در ایجاد این بیماری شناخته می شود. مکانیزم بیماری زایی تجمعات sod1در بیماری fals اگر چه هنوز به طور کامل مشخص نیست اما تغییر در خصوص...
Reproductive history and exogenous hormonal exposures are acknowledged risk factors for breast cancer in the general population. In women at increased breast cancer risk for genetic predisposition or positive family history, data regarding these risk factors are limited or conflicting, and recommendations for these categories are unclear. We evaluated the characteristics of reproductive life in...
Background and Objective: Thyroid disorders, particularly hypothyroidism or hyperthyroidism, are among the common clinical disorders occurring in most communities. The main aim of this study was to determine the individual characteristics, common clinical signs and diet history in patients with hypo- or hyperthyroidism in different areas in Hamedan Materials and Methods: This study...
Introduction: Hearing impairment has a large economic and social burden on societies. Determination of related demographic and audiologic characteristics of deaf patients can help to understand the related factors to hearing impairment and prevent it. In this study we assessed the demographic and audiologic characteristics of deaf patients in a population in the north of Iran. Materials and Met...
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma without evidence of medullary thyroid cancer. Genetic test detected a L790F germline mutation of RET oncogene. The author found a necessity for geneti...
familialmediterranean fever (fmf) is a hereditary syndrome characterized by recurrent attacks of fever and serositis. liver involvement in fmf has been reported in association with amyloidosis or rarely with vasculitis.in this report, a 32 year-old man with recurrent attacks of fever, abdominal pain and arthralgia is described who had moderate increase in liver transaminases only during disease...
bipolar disorder is a mental disease that can be presented as irritable mood with affective storms, mixed symptoms of depression and mania, rapid cycles, emotional labiality and irritability during all episodes. â confirmed positive familial history of the disease is the single most robust risk factor for developing the illness. this report presents 5.5 years-old girl with the symptoms of bipol...
background: familial dysautonomia (fd) is a rare hereditary syndrome which is an autosomal recessive trait that typically affects jewish children. important signs and symptoms of the disorder include; diminished pain perception, absence of overflow tears, hypotonia, fainting cardiac arrhythmias and autonomic crisis. cases report : in this article we reported 3 cases of fd syndrome which had pre...
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