Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinica...

We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a potential cytochemical diagnostic pitfall in the diagnosis of Niemann Pick disease.

Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.

background: the protein of niemann-pick type c1 (npc1) gene promotes the egress of cholesterol from late endosomes and lysosomes to other cellular compartments and contributes to a process known as reverse cholesterol transport. this study aimed to examine whether promoter methylation of npc1 is associated with risk of cardiovascular disease (cvd). methods: fifty cvd patients and 50 healthy sub...

An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and counselling in twin pregnancies are dis...

Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.

BACKGROUND Australian football (AF) players require endurance, strength, speed, and agility to be successful. Tests assessing physical characteristics are commonly used for talent identification; however, their ability to differentiate between players across the Australian Football League's (AFL) participation pathway remains unclear. The objective of this review was to quantify the physical ch...

Horizontal Inequality (HI) is defined as inequality among culturally defined (or constructed) groups, in contrast to Vertical Inequality (VI) which is inequality among households or individuals. HIs are multidimensional, including a political and social dimension, as well as economic, and a range of elements in each of these dimensions. There is evidence that in many, but not all, cases HIs per...

ISection for Medical Enzymology and Metabolism, Laboratory of Biochemistry, University of Amsterdam, P.O. Box 20151, 1000 lid Amsterdam, The Netherlands; 2Institute of Organic Chemistry and Biochemistry, University of Bonn, Gerhard-Domagkstrasse i, D-5300 Bonn, Federal Republic of Germany; and 3Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Di...

Over the past 18 months different lots of [1,2-3H]cholesterol and [24,25-3H]cholesterol were found to be radiochemically acceptable by conventional chemical and other in vitro tests, yet, when co-administered with [4-14C]cholesterol to human subjects, an abrupt fall in the 3H/14C specific activity ratio in plasma cholesterol was discovered in every case. We have concluded that all batches of [3...