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Topic: Neutral lipid storage myopathy

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	The gene encoding adipose triglyceride lipase (: : PNPLA2: : ) is mutated in neutral lipid storage disease with ...
		The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
		Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets.
		Fasting-induced increases in aquaporin 7 and adipose triglyceride lipase mRNA expression in adipose tissue are attenuated by peroxisome proliferator-activated receptor α deficiency
	www.nature.com /doifinder/10.1038/ng1951 (355 words)

	ORPHANET - About rare diseases - About orphan drugs
		Neutral Lipid Storage Disease (NLSD), also called Dorfman-Chanarin disease, is characterized by intracellular accumulation of triglycerides.
		Although the clinical course of the disorder varies from one patient to another, progression is relatively slow, and some patients reach an advanced age.
		Most cells in the body accumulate triglycerides in small cytoplasmic vacuoles (termed as Jordan's anomalies in lymphocytes) that are visible by binocular microscopy of stained tissues (neutral lipid stain) and electron microscopy.
	www.orpha.net /consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=165 (299 words)

	Case Reports
		Examination of the peripheral smear/buffy coat smear for the presence of characteristic pathognomonic lipid inclusions in the leukocytes is crucial for establishing the diagnosis of DCS(4).
		Myopathy (with elevated serum muscle enzy-mes and abnormal EMG), mild neurologic impairment, ataxia, nystagmus, facial weakness, neurosensory deafness, developmental delay, cataracts, retinal dysfunction, mild ectropion (consequent to facial involvement by ichthyosis) and fatty liver (with/without mild elevation of hepatic enzymes) have been described(4).
		The father of Case 1 had lipid droplets in the neutrophils on EM examination of the buffy coat smear but the eosinophils were not prominently seen in the smear examined.
	www.indianpediatrics.net /jan2000/case2.htm (1588 words)

	Encyclopedia (Site not responding. Last check: )
		Similarly, in a lipid storage myopathy it may be necessary to measure total muscle lipids, individual fatty acids, carnitine or specific enzymes such as carnitine palmityl transferase.
		In early or preclinical cases of muscular dystrophy of the Duchenne type, a 300-fold increase in the serum activity of CK is often found; changes of similar magnitude sometimes occur in acute and subacute polymyositis.
		In some endocrine and metabolic myopathies and in the benign congenital myopathies, serum CK activity is often normal, as it may be in patients with muscular weakness secondary to disease of the anterior horn cell or motor nerve.
	www.eamg-med.com /members/encyclopedia/25/25_1.shtml (3577 words)

	The Turkish Journal of Pediatrics
		Lipid inclusions within monocytes and leukocytes were first described by Jordans in 1953, and in 1966, Rozenszajn et al.[5] reported a kindred with similar leukocyte lipid droplets and ichthyosis.
		It is suggested that neutral lipid, in the form of triacylglycerol, accumulates in most cells due to an enzymatic error in the recycling pathway converting triacylglycerol to phospholipids[9].
		On histopathological examination of the skin, lipid droplets in basal and granulocytic cell layers, as well as in epidermal Langerhans cells, fibroblasts, Schwann cells in both myelinated and unmyelinated nerves, smooth muscle cells, and sweat gland cells are detected[2,5,12-14].
	tjp.dergisi.org /text.php3?id=349 (1530 words)

	Lectures
		In fishes, lipids seem to be absorbed mainly by the epithelial cells in the anterior part of the intestine.
		The lipids are absorbed in the upper part of the intestine and in the pyloric caeca.
		Deficiency of fatty acids is manifested by depigmentation, fin erosion, cardiac myopathy and fatty infiltration of the liver.
	www.fao.org /docrep/field/003/T5817E/T5817E03.htm (8076 words)

	[No title]
		NEM is a non-progressive myopathy characterized histologically by abnormal threadlike structures in muscle cells, and clinically by hypotonia with diffuse weakness of the limb and trunk, usually beginning in infancy.
		Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
		BD is an autosomal recessive myopathy characterized by increasing impairment of relaxation of fast twist skeletal muscle during exercise.
	pevsnerlab.kennedykrieger.org /flatfiles/swissprot-output-10.txt (20299 words)

	DCS - WrongDiagnosis.com
		»Symptoms of Triglyceride storage disease with impaired long-chain fatty acid oxidation
		DCS: Another name for Triglyceride storage disease with impaired long-chain fatty acid oxidation (or close medical condition association).
		Symptoms of DCS (Triglyceride storage disease with impaired long-chain fatty acid oxidation)
	www.wrongdiagnosis.com /medical/dcs_printer.htm (294 words)

	Birth Disorder Information Directory - CA-CL
		Carey Fineman Ziter Syndrome (Myopathy Moebius Robin Syndrome)
		MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
		Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotrophic Hypogonadism
	www.bdid.com /defectca.htm (705 words)

	Acta Dermato-Venereologica \| No. , :
		Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect.
		Microscopic examination of eosinophils for lipid vacuoles to identify conductors revealed variable percentages of normal and vacuolized eosinophils in conductors, suggesting the microscopic analysis of at least 10 eosinophils for conductor identification.
		Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts.
	adv.medicaljournals.se /article/abstract/10.1080/000155500750012504 (577 words)

	Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage [see ...
		The use of zidovudine (AZT) for the treatment of acquired immunodeficiency syndrome (AIDS) induces a DNA-depleting mitochondrial myopathy, which is histologically characterized by the presence of muscle fibers with ragged-red-like features, red-rimmed or empty cracks, granular degeneration, and rods (AZT fibers).
		Because dysfunctioning muscle mitochondria may lead to defects of beta-oxidation of fatty acids, we examined the degree of neutral fat accumulation and muscle carnitine levels in the muscle biopsy specimens from 21 patients with AZT-induced myopathic symptoms of varying severity.
		We conclude that the muscle mitochondrial impairment caused by AZT results in (1) accumulation of lipid within the muscle fibers owing to poor utilization of long-chain fatty acids, (2) reduction of muscle carnitine levels probably due to decreased carnitine uptake by the muscle, and (3) depletion of energy stores within the muscle fibers.
	www.aegis.com /aidsline/1994/jul/M9470421.html (436 words)

	Encyclopedia (Site not responding. Last check: )
		Cystine has a solubility of 400 mg/l at neutral pH and excretion varies from 400 to 1200 mg/day in affected individuals, with increased excretion of lysine (up to 2 g/day), ornithine, and arginine, and impaired intestinal absorption of the free amino acids.
		This is an autosomal recessive disorder of neutral amino acid transport across the luminal brush border membrane of kidney and intestine.
		Cases with a predominantly late clinical presentation of lipid storage myopathy are described.
	www.eamg-med.com /members/encyclopedia/11/11_3.shtml (14676 words)

	eMedicine - Muscle Biopsy and the Pathology of Skeletal Muscle : Article by Roberta J Seidman
		The correct way to diagnose endocrine myopathies is to recognize their clinical presentations and follow this with serologic testing for appropriate components of the hypothalamic-pituitary–endocrine organ axis.
		T tubules and sarcoplasmic reticulum are responsible, respectively, for conduction of electrical signals from the cell surface and intracellular storage and release of calcium required for contraction to occur.
		In practice, this term most commonly is applied to the idiopathic inflammatory myopathies that are the main focus of this section; however, a comprehensive classification of myositis includes a variety of disorders (see Media file 49).
	www.emedicine.com /neuro/topic230.htm (11687 words)

	Acylglycerol Recycling from Triacylglycerol to Phospholipid, Not Lipase Activity, Is Defective in Neutral Lipid Storage ... (Site not responding. Last check: )
		Neutral lipid storage disease (NLSD) is an autosomal recessive disorder in which excess triacylglycerol (TG) accumulates in most cells.
		Because the NLSD phenotype includes ichthyosis, fatty liver, myopathy, cardiomyopathy, and mental retardation, the recycling pathway appears to be critical for the normal function of skin, liver, muscle, heart, and the central nervous system.
		Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism
	www.jbc.org /cgi/content/abstract/271/28/16644 (1104 words)

	Effects of troglitazone on substrate storage and utilization in insulin-resistant rats -- Sreenan et al. 276 (6): E1119 ... (Site not responding. Last check: )
		increase the oxidation relative to storage of palmitate (20).
		An increase in lipid oxidation results in decreased oxidation of glucose both in vivo and in vitro (4, 32).
		Diet-induced muscle insulin resistance in rats is ameliorated by acute dietary lipid withdrawal or a single bout of exercise: parallel relationship between insulin stimulation of glucose uptake and suppression of long-chain fatty acyl-CoA.
	ajpendo.physiology.org /cgi/content/full/276/6/E1119 (6194 words)

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