A patient with Niemann-Pick disease is reported together with family studies. Her liver and bone marrow were shown to be infiltrated with sea blue histiocytes. Other organs, spleen and lung, were presumably also involved but histological proof was not obtained. Enzyme assay of leucocytes, lymphocytes, and cultured skin fibroblasts showed the patient to be deficient in sphingomyelinase activity....

BACKGROUND AND OBJECTIVES Niemann Pick A disease causes a progressive accumulation of sphyngomyelin in several organs and the survival of the patients is usually limited to three years. We describe the outcome of a patient suffering from Niemann Pick A disease, who first underwent an haploidentical bone marrow transplantation, and then intrathecal and I.V injections of mesenchymal cells. METH...

Egress of lipoprotein-derived cholesterol from lysosomes requires two lysosomal proteins, polytopic membrane-bound Niemann-Pick C1 (NPC1) and soluble Niemann-Pick C2 (NPC2). The reason for this dual requirement is unknown. Previously, we showed that the soluble luminal N-terminal domain (NTD) of NPC1 (amino acids 25-264) binds cholesterol. This NTD is designated NPC1(NTD). We and others showed ...

In the “Images in Hematology’’ section of the Journal, And›ç et al. [1] briefly presented sea-blue histiocytes in a 45-year-old woman with type B Niemann-Pick disease [2,3]. I believe the cell photographed by the authors is fairly typical for Niemann-Pick disease with few nuclear remnants and superimposed lymphocytes. In my opinion, it is not typical for sea-blue histiocytes. We have seen sea-b...

(Czech Republic), 1998, (pp. 357{362). A Concept for a Prosodically and Statistically Driven Chunky Semantic Parser J urgen Haas, Manuela Boros, Elmar N oth, Volker Warnke, Heinrich Niemann University of Erlangen-N urnberg Chair for Pattern Recognition { Martensstra e 3 { 91058 Erlangen { Germany (haas,boros,noeth,warnke,niemann)@informatik.uni-erlangen.de Abstract. In spoken dialog systems ...

Niemann-Pick type C1 (NPC1) is a polytopic endosomal membrane protein required for efflux of LDL-derived cholesterol from endosomes, and mutations of this protein are associated with Niemann-Pick disease type C, a fatal neurodegenerative disease. At least one prevalent mutation (I1061T) has been shown to cause a folding defect, which results in failure of endosomal localization, leading to a lo...

Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired becau...

A patient suffering from Niemann Pick A Disease, underwent an haploidentical bone marrow transplantation, which was then followed by intrathecal and I.V injections of mesenchymal cells. Results: While the outcome of the bone marrow transplantation was a complete failure, after one month after from the treatment with the mesenchymal cells the patient improved from the psychomotor and from the pa...

Niemann-Pick disease type C is an autosomal recessive lysosomal storage disorder that is characterized by severe visceral and neurologic involvement. The age of clinical onset diverges widely and the patients can present with a wide-ranging spectrum of signs and symptoms. As literature on anaesthetic implications of these patients is scarce, we analysed the anaesthetic management of a 20-year o...

Population-based mortality follow-back survey designs have been used to collect information concerning end-of-life care from bereaved family members in several countries. In Canada, this design was recently employed to gather population-based information about the end-of-life care experience among adults in Nova Scotia as perceived by the decedent's family. In this article we describe challenge...