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* Niemann – Pick disease type A, a genetic disorder
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Niemann and –
Both of those have since been sold to Niemann Foods, an independent operator of grocery stores, supermarkets and convenience stores in Central Illinois which now operates them under the Cub Foods – County Market brand.
* These former Jewel-Osco or Jewel stores are now owned by Niemann Foods and were rebranded as Cub Foods – County Market
Unlike other lysosomal storage diseases ( e. g., Gaucher disease, Niemann – Pick disease, and Sandhoff disease ), hepatosplenomegaly ( liver and spleen enlargement ) is not seen in Tay – Sachs.
Mutations in the SMPD1 gene cause Niemann – Pick disease types A and B, and mutations in NPC1 and NPC2 cause Niemann – Pick disease, type C ( NPC ).
The terms " Niemann – Pick type I " and " Niemann – Pick type II " were proposed to separate the high and low sphingomyelin forms of the disease in the early 1980s, before the molecular defects were described.
Niemann – Pick disease is inherited in an autosomal recessive pattern, which means both copies, or alleles, of the gene must be mutated ( altered in such a way that function is impaired, in contrast to a polymorphism, in which the nucleotide sequence is altered but causes no functional disruption ) for a person to be affected by the disorder.
Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann – Pick.
:* Niemann – Pick disease type A: classic infantile, accounting for about 85 % of all cases of Niemann – Pick disease
Niemann and Pick
Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia ( sensory and cerebellar, with the former predominating ) and Niemann Pick disease, ataxia-telangiectasia ( sensory and cerebellar, with the latter predominating ), and abetalipoproteinaemia.
Niemann and disease
The incidence among Ashkenazi Jews is estimated to be approximately 1 in 40, 000 for type A of Niemann – Pick disease.
Niemann and type
In January 2009, Actelion announced that the drug Zavesca ( Miglustat ) had been approved in the European Union for the treatment of progressive neurological manifestations in adult patients and pediatric patients with Niemann – Pick disease, type C ( NPC ).
Researchers at the University of Texas Southwestern Medical Center found that when Niemann – Pick type C mice were injected with CYCLO ( 2-hydroxypropyl-β-cyclodextrin or HPbCD ), when they were 7 days old, marked improvement in liver function tests, much less neurodegeneration, and, ultimately, significant prolongation of life occurred.
These results suggest that 2-hydroxypropyl-β-cyclodextrin acutely reverses the storage defect seen in Niemann – Pick disease, type C.
On May 17, 2010, the FDA granted HPbCD orphan drug status and designated hydroxy-propyl-beta-cyclodextrin as a promising treatment for Niemann – Pick type C disease.
In April 2011, the National Institutes of Health ( NIH ), in collaboration with the Therapeutics for Rare and Neglected Diseases Program ( TRND ), announced they are developing a clinical trial utilizing cyclodextrin for Niemann – Pick type C patients.
On September 20, 2011, the European Medicines Agency ( EMA ) granted HPbCD orphan drug status and designated the compound as a potential treatment for Niemann – Pick type C disease.
Albert Niemann published the first description of what is now known as Niemann – Pick disease, type A, in 1914.
In 1961, the classification of Niemann – Pick disease into types A, B and C was introduced, and also contained a type D, also called the " Nova Scotian type ".
Niemann and genetic
Niemann – Pick diseases are genetic diseases which are classified in a subgroup of LSDs called sphingolipidoses or lipid storage disorders in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow, and brain.
The genetic conditions Ataxia Telangiectasia and Niemann Pick disease Type C, as well as cerebellar essential tremor, involve the progressive loss of Purkinje cells.
– and Pick
It is a term first used in 1891 in this Latin form by Arnold Pick ( 1851 – 1924 ), a professor of psychiatry at the German branch of Charles University in Prague.
* Pick A Corner, located in Square # 6 in Round Two from March 1984 – July 1986, gave the contestant the choice between the contents of the corner squares of # 1, # 10, and # 15.
* Pick and Copy – A tileset ( building set ) modifier, which allows users to produce new tilesets that display specific custom buildings.
Some types – including a few varieties from Spain salchichón, most Hungarian types ( Pick salami ), and southern Italian styles ( such as those from Naples, which in turn originated American pepperoni ) include paprika or chili powder.
Mark Pick's shop – the predecessor of today's world famous Pick Salami Factory – was opened in 1869.
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