نتایج جستجو برای: familial
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introduction: due to the whole network of polyposis registers worldwide and early prophylactic treatment, survival of familial adenomatosis (fap) patients is improved. extracolonic manifestations are remarkable feature of fap. two extracolonic manifestations (duodenal adenomatosis, leading duodenal cancer and desmoid tumours) play a very important role in the reasons of death in polyposis popul...
we present 2 cases of likely rare event. in case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. the same inv(6) being inherited in progeny but presented with low amh (anti mullerian hormone) and high level of fsh (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...
financial and economic relationships are undeniable realities and impressive factors in familial relations, and there are reciprocal interactions between these two. the existence of this relationship has caused the familial relations to be realized as effective in the penal destiny of aggressions against properties in the penal jurisprudence and statutes. in islamic jurisprudence, familial immu...
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...
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...
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...
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 individuals cardiovasc...
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