نتایج جستجو برای: familial chylomicronemia
تعداد نتایج: 56099 فیلتر نتایج به سال:
We compared the 16-hour-standing plasma test to lipoprotein electrophoresis on agarose gel for detection of chylomicrons in 129 patients' samples with triglyceride values greater than or equal to 4.00 g/L. Chylomicrons were observed in 12 samples (9.3%) by use of the standing-plasma test and in 58 samples (45.0%) by use of agarose-gel electrophoresis. Thus the standing-plasma test did not detec...
TOPIC: Critical Care TYPE: Medical Student/Resident Case Reports INTRODUCTION: Very severe hypertriglyceridemia (HTG), defined by the Endocrine Society as serum triglyceride (TG) concentration ≥2000 mg/dL, is a rare condition that associated with genetic causes including familial chylomicronemia syndrome or type 1 hyperlipoproteinemia, and secondary conditions uncontrolled diabetes excessive al...
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...
Radioactive phosphorus (P32) was injected into normal and cholesterol-fed rabbits. A marked derangement of aortic phospholipid metabolism was found in the cholesterol-fed animals. The phospholipid found in the atheromatous aortas appeared to have been synthesized by the aorta itself rather than to have been deposited there from the plasma. T HE etiology of atheromatosis has been explored from d...
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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