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retinitis/triglyceride
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Clinical and serum lipid findings in a large family with autosomal dominant retinitis pigmentosa.
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Retinitis pigmentosa, of unknown cause, has recently been associated with decreased amounts of the polyunsaturated fatty acid, docosahexaenoic acid, in the plasma of affected as compared with unaffected relatives. It has been suggested that this finding may serve as a marker for the disease and
Plasma lipid abnormalities in retinitis pigmentosa and related conditions.
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Plasma samples obtained from 69 fasting retinitis pigmentosa (RP) patients and 110 controls were assayed for cholesterol, triglycerides, lipoproteins, and fatty acids. It was found that many RP patients were hyperlipidaemic compared to their spouses and siblings, as well as compared to unrelated
Abnormal plasma lipids of patients with Retinitis pigmentosa.
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Retinitis pigmentosa (RP) is a hereditary retinal degeneration of unknown etiology, resulting in progressive night blindness, loss of peripheral vision, abnormal retinal pigmentation and reduced electroretinographic response. Docosahexaenoic acid (22:6 omega 3) is found in high concentration in the
Biological safety assessment of docosahexaenoic acid supplementation in a randomized clinical trial for X-linked retinitis pigmentosa.
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BACKGROUND
In a 4-year placebo-controlled trial to elevate blood docosahexaenoic acid levels in patients with X-linked retinitis pigmentosa (XLRP), the goal was to assess the potential benefit of docosahexaenoic acid supplementation in altering disease progression. However, docosahexaenoic acid
Abetalipoproteinemia: two case reports and literature review.
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Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy,
[An adult case of probable Bassen-Kornzweig syndrome, presenting resting tremor].
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We report a 53-year-old woman with probable Bassen-Kornzweig syndrome. Her parents were a consanguineous marriage. At two years of age, she developed night blindness. During her childhood she had severe diarrhea that disappeared in adulthood. At 26 years of age, she was diagnosed as having retinitis
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
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Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual
Increased polymorphonuclear leucocyte rigidity in HIV infected individuals.
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OBJECTIVE
Individuals with human immunodeficiency virus (HIV) infection were evaluated for evidence of abnormal polymorphonuclear leucocyte (PMN) rigidity, which can alter capillary blood flow.
METHODS
The transit time of individual PMN through 8 microm pores in a cell transit analyser was used as a
[Abetalipoproteinemia. Apropos of 2 cases].
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The cases of two sisters with abetalipoproteinemia are reported. Both presented the complete clinical and biological features of the disease: ataxia, retinitis pigmentosa, lack of apolipoprotein B, chylomicrons, LDL and VLDL, reduced titers of serum cholesterol and triglycerides, acanthocytosis,
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
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Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder that is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. This disorder results from mutations in the MTP gene encoding the microsomal triglyceride transfer protein. We report
An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia
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We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride transfer protein gene, resulting in the absence of
Lipid abnormalities in hereditary neuropathy. Part I. Serum non-polar lipids.
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The non-polar lipids from sera of 54 patients, with various types of hereditary motor and sensory neuropathies, and from 72 healthy subjects were evaluated. A small but highly significant decrease in the percentage of linoleate to total fatty acids in both cholesteryl ester and triglyceride
Cyclosporin-induced hypertriglyceridemia with prompt response to plasma exchange therapy.
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A case of severe cyclosporin-induced hypertriglyceridemia that prompted plasma exchange therapy is reported. Hyperlipemic retinitis, headache, stupor, and peripheral paresthesias became apparent when the level of triglycerides exceeded the 1,500 mg/dL level. Two plasma exchanges were required to
Abetalipoproteinemia: a case report.
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Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa. Here we peresent a six-month-old patient with abetaliporoteinemia. He had a history of chronic diarrhea from the first month of life. He was cachectic
A case of McLeod syndrome with chronic renal failure.
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A 50-year-old man with the rare McLeod syndrome, associated with glomerular lesion to the end stage of chronic renal failure and death, is reported. McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte
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