Pick's disease - Factbites

Pick's disease - Factbites
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Topic: Pick's disease

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	HUSSAIN
		Pick’s disease is an inherited disorder characterized by lysosomal storage of sphingomyelin as a consequence of almost complete deficiency of acid sphingomyelinase: the neutral enzyme activity is present in the tissues of patients with this desease.
		Niemann Pick disease consists of a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certain tissues of the body.
		The sphingomyelin that accumulates in the lysosomes of the Niemann-Pick disease cells is thought to arise from the degradation of cells and their organelles since it is a major component of all mammalian cell membranes, the myelin sheath and the erythrocyte stroma.
	web.indstate.edu /thcme/anderson/IH.html (1863 words)

	Niemann-Pick disease - Genetics Home Reference
		Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.
		Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.
		Niemann-Pick disease, type B occurs in all populations; however, the incidence is unknown.
	ghr.nlm.nih.gov /condition=niemannpickdisease (889 words)

	Center for Jewish Genetic Diseases - Department of Human Genetics - Mount Sinai School of Medicine
		The specific biochemical defect in both Types A and B Niemann-Pick disease is the deficiency of an enzyme, sphingomyelinase, which normally degrades a fatty substance known as sphingomyelin.
		Both Type A and B Niemann-Pick disease are inherited in an autosomal recessive manner.
		The diagnosis of Type A or B disease can be made either by demonstration of the enzyme defect, or by identification of the specific mutation(s) in the sphingomyelinase gene.
	www.mssm.edu /jewish_genetics/diseases/niemann-pick.shtml (456 words)

	Niemann Pick Disease
		Niemann-Pick disease type D is limited to a specific population from Nova Scotia, Canada and their descendants, of whom one in four to one in 10 potentially are carriers for the disease.
		Sandhoff disease is inherited as an autosomal recessive trait.
		Tay-Sachs disease is inherited as an autosomal recessive trait.
	hw.healthdialog.com /kbase/nord/nord93.htm (3364 words)

	The NTSAD Diseases Family: Niemann-Pick Disease
		As with Tay-Sachs Disease, the parents of children with Niemann-Pick are carriers and they have a 1 in 4 probability with each pregnancy of having an affected child.
		Diagnosis of individuals suspected of having Type A or B Niemann-Pick Disease is done by determining that the sphingomyelinase levels in samples of blood are severely depressed.
		The disease progresses with symptoms of increased clumsiness and lack of coordination, and eventually seizures, and a gradual failure of physical and mental function.
	www.ntsad.org /pages/n-pick.htm (989 words)

	Support Niemann-Pick Type C (NP-C) Disease Research at HelpKevin.org
		Niemann-Pick Type C is a neurodegenerative disease that primarily strikes children in their early childhood years with death occurring before or during adolescence.
		National Niemann-Pick Disease Foundation.(NNPDF) which also funds NP-C research, promotes awareness, and provides family support.
		This life-robbing disease is not only painful for these children, but also their parents who experience a tremendous heartbreak as they watch their children slowly decline both physically and mentally.
	www.helpkevin.org (716 words)

	Disease - Niemann-Pick - Detroit, Michigan
		The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen.
		Pick´s Disease is sometimes confused with Niemann-Pick but it is a different disease.
		The underlying reason for this dramatic difference in the two forms of the disease is not really understood, and, at present, it is not possible to accurately predict the severity of the disease by enzyme testing.
	www.henryfordhealth.org /12231.cfm (1309 words)

	Niemann-Pick Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.
		The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Niemann-Pick disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.
		Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen.
	www.ninds.nih.gov /disorders/niemann/niemann.htm (581 words)

	Niemann-Pick disease
		Today, there are three separate diseases that carry the name Niemann-Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease.
		Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described.
		Recently, the major locus responsible for Niemann-Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis.
	www.ncbi.nlm.nih.gov /disease/NP.html (224 words)

	eMedicine - Niemann-Pick Disease : Article by Santiago A Centurion, MD
		Niemann and Pick, and later Crocker and Farber, defined NPD on the basis of its clinical and pathologic features in the beginning of the 20th century.
		In patients with NPD type A, the infantile form, sphingomyelinase activity is 0.7% of that of healthy individuals, whereas in patients with adult-onset neuronopathic or nonneuronopathic disease, the activity is 0-19% of that of healthy individuals.
		When both parents are carriers, in each pregnancy, they have a 1 in 4 risk of having a child who is affected with the disease and a 1 in 2 risk that the child will be a carrier.
	www.emedicine.com /derm/topic699.htm (4500 words)

	liver syndrome Niemann-Pick Disease
		Niemann-Pick is differentiated from Gaucher's Disease (another lysosomal disorder) by a macular cherry-red spot.
		Disease onset varies from birth to adulthood and there are several subtypes, categorized as types A, B and C. The incidence of types A and B is higher in Ashkenazi Jews.
		There is no specific treatment for this disease; liver and bone marrow transplant are options.
	www.fairviewtransplant.org /Liver/Niemann.asp (288 words)

	Niemann-Pick disease definition - Medical Dictionary definitions of popular medical terms
		Eye hallmarks of Niemann-Pick disease include the "cherry red spot" in the macula in the center of the retina, opacity of the cornea and brown discoloration of the lens capsule.
		Niemann-Pick disease: A biochemical disorder affecting a lipid (fat) called sphingomyelin, resulting usually in progressive enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration.
		The classical form of the disease is Niemann-Pick disease type A. Its onset is in very early infancy and death is usually before age 3.
	www.medterms.com /script/main/art.asp?articlekey=10149 (417 words)

	Niemann-Pick disease (Ludwig Pick) (www.whonamedit.com)
		He commented that the histological features resembled those of Gaucher's disease, although the rapidly progressive course was not in keeping with the diagnosis.
		Niemann’s description was of a Jewish infant with extensive damages to the central nervous system that died at the age of two years after developing lymphadenopathy and hepatosplenomegaly.
		Typical cell, having a foamy appearance and filled with a lipoid believed to be sphingomyelin, can be found in bone marrow, spleen, or lymph nodes and aids in establishing the diagnosis.
	www.whonamedit.com /synd.cfm/1029.html (292 words)

	Neimann-Pick Disease - Information and Support Resources
		However, it is the A and B types of Neimann-Pick Disease that have a higher incidence in Ashkenazi Jews, compared to the general population.
		The prognosis of Type A is dismal, and usually a baby with this form of Niemann-Pick Disease succumbs by the second year of life.
		Though both Type A and B are caused by deficiency of ASM, Type A, which is most prevalent, is a severe neurological disease that generally leads to death between two and three years of age.
	www.mazornet.com /genetics/neiman-pick.asp (684 words)

	Niemann-Pick Disease - Swedish Medical Center, Seattle, Washington
		Niemann-Pick disease refers to a group of inherited conditions that affect the bodys metabolism.
		If you have Niemann-Pick disease or a have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
		It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease.
	www.swedish.org /14613.cfm (655 words)

	NIEMANN-PICK DISEASE : Contact a Family - for families with disabled children: information on rare syndromes and disorders
		There are a number of types of Niemann-Pick disease all of which are characterised by an accumulation of fats in the liver, spleen and bone marrow.
		This is often diagnosed as neonatal hepatitis (see entry, Liver disease) and Niemann-Pick Type C needs to be excluded in all patients who present in this way.
		As Niemann-Pick disease is a metabolic disease, support and advice are also available from Climb (see entry Metabolic diseases).
	www.cafamily.org.uk /Direct/n30.html (782 words)

	Deregulation of cdk5, Hyperphosphorylation, and Cytoskeletal Pathology in the Niemann-Pick Type C Murine Model -- Bu et al. 22 (15): 6515 -- Journal of Neuroscience
		Takeda A, Smith MA, Avila J, Nunomura A, Siedlak SL, Zhu X, Perry G, Sayre LM (2000) In Alzheimer's disease, heme oxygenase is coincident with Alz50, an epitope of tau induced by 4-hydroxy-2-nonenal modification.
		Pollock NJ, Wood JG (1988) Differential sensitivity of the microtubule-associated protein, tau, in Alzheimer's disease tissue to formalin fixation.
		Vincent I, Jicha G, Rosado M, Dickson DW (1997) Aberrant expression of mitotic cdc2/cyclin B1 kinase in degenerating neurons of Alzheimer's disease brain.
	www.jneurosci.org /cgi/content/full/22/15/6515 (7229 words)

	Niemann-Pick Disease
		Like Gaucher's disease, Niemann-Pick disease is a lysosomal storage disorder in which a missing enzyme prevents the metabolism of a certain compound that then accummulates in the cells.
		Its symptoms include variable enlargement of the liver and spleen, an increasing inability to control muscle movement, seizures, disordered muscle tone, dementia and sometimes fatal neonatal liver disease.
		Type C is caused by an error in cholesterol metabolism that results in unesterified cholesterol accumulating in cells.
	www.cedars-sinai.edu /5271.html (333 words)

	Adult Niemann-Pick disease type C mimicking features of multiple sclerosis -- GRAU et al. 63 (4): 552 -- Journal of Neurology, Neurosurgery, and Psychiatry
		Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.
		Niemann-Pick disease type C is a panethnic autosomal recessive neurovisceral storage disorder characterised by a unique error
		biochemical phenotype of Niemann-Pick disease type C. The clinical picture in our patient corresponds well to late onset Niemann-Pick disease type C. Although her disease may have
	www.jnnp.com /cgi/content/full/63/4/552 (916 words)

	Home
		The Niemann-Pick Diseases, in common with many other inherited diseases of the metabolism, are a source of great suffering and distress to individuals unfortunate to have inherited them and to their families.
		The purpose of this website is to provide information about Niemann-Pick Diseases to affected families to assist them in understanding the cause of the disease and, hopefully, to relieve their distress and confusion in some small way.
		Disclaimer: Information which appears on this Website is for the express purpose of raising awareness and providing up to date information about Niemann-Pick disease.
	www.niemannpick.org.uk (237 words)

	Introduction: Niemann-Pick disease - WrongDiagnosis.com
		Niemann-Pick disease: Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain.
		Researching symptoms of Niemann-Pick disease: Further information about the symptoms of Niemann-Pick disease is available including a list of symptoms of Niemann-Pick disease, other diseases that might have similar symptoms in differential diagnosis of Niemann-Pick disease, or alternatively return to research other symptoms in the symptom center.
		Treatments for Niemann-Pick disease: Various information is available about treatments available for Niemann-Pick disease, current research about Niemann-Pick disease treatments, or research treatments for other diseases.
	www.wrongdiagnosis.com /n/niemann_pick_disease/intro.htm (247 words)

	Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Niemann-Pick Disease
		Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Niemann-Pick Disease
		This disease is caused by a deficiency of an enzyme called sphingomyelinase, an enzyme responsible for breaking down a specific fat in the body.
		Lack of sphingomyelinase causes an accumulation of this fat in various body organs.
	www.jewishgeneticscenter.org /what/ashkenazi/niemann.asp (154 words)

	Niemann-Pick Disease Group (UK)
		The Niemann-Pick Disease Group (UK) is a registered charity within the United Kingdom providing information and support to families and professionals worldwide regarding all types of Niemann-Pick disease.
		There are currently 24 different research establishments being funded to work on Niemann-Pick Disease.
		The news all families affected by Niemann Pick Type C want to hear, is of the proposed trials of the drug OGT 918 (now known as Vevesca).
	64.77.54.174 /npdg-uk/vol8-1/index.html (855 words)

	Niemann-Pick disease med Family Medicine for the Family
		Today, there are three separate diseases that carry the name Niemann-Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease.
		Recently, the major locus responsible for Niemann- Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis.
		Just search for the disease and find differential diagnosis, treatment, images and more.
	www.medfamily.org /medArticle179.html (357 words)

	USATODAY.com - Roundup: Three Longhorns academically ineligible
		TUCSON — The granddaughter of former Notre Dame football coach Ara Parseghian, whose family raised millions of dollars to pay for research on Niemann-Pick disease, has died of the rare genetic disorder.
		She was the longest surviving of three siblings all diagnosed with the rare and fatal disease.
		NP-C bears a resemblance to Alzheimer's disease, and because it stems from an inability to metabolize cholesterol, researchers hope work on NP-C will help those at risk for cardiovascular disease, heart attack and stroke.
	www.usatoday.com /sports/college/football/2005-08-08-roundup_x.htm (823 words)

	Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease -- Choi et al. 278 (35): 32569 -- Journal of Biological Chemistry
		Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease -- Choi et al.
	www.jbc.org /cgi/reprint/278/35/32569 (24 words)

	Niemann Pick Disease
		The pathological effects of this disease were first noted around the turn of the century but, of course, its origins go back much further in time.
		These 'Allied Diseases', which presently number over 40, afflict many thousands of individuals throughout the world.
		is associated with a large group of genetic disorders known as Lysosomal Storage Diseases.
	www.jacob-quinn.com /disease.htm (349 words)

	Parseghian To Be Honored For Work Against Life-Threatening Disease :: Former Irish football coach's medical foundation works toward cure for Niemann-Pick Type C.
		Parseghian To Be Honored For Work Against Life-Threatening Disease :: Former Irish football coach's medical foundation works toward cure for Niemann-Pick Type C. CSTV.com :: College Football
		The disease, also known as NP-C, is a genetic pediatric neurodegenerative disorder that causes progressive deterioration of the nervous system, usually in school-age children.
		To that end, the foundation has raised over $22 million to combat the disease, which has claimed two of Parseghian's grandchildren and is affecting a third.
	www.collegesports.com /sports/m-footbl/stories/071805aaf.html (358 words)

	NCR-1 and NCR-2, the C. elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways -- Li et al. 131 (22): 5741 -- Development
		NCR-1 and NCR-2, the C. elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways -- Li et al.
		A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis
		elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways
	dev.biologists.org /cgi/content/abstract/131/22/5741 (340 words)

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