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...

NPC1L1 (Niemann-Pick C1-like 1), the pharmacological target of the cholesterol-uptake inhibitor ezetimibe, is a transporter localized on the brush border of enterocytes. Although this protein plays a key role in intestinal uptake of sterols, multiple molecular events that underlie intestinal cholesterol absorption have not been fully characterized. Two proteins that might be involved in this pr...

The clinical diagnosis of Pick disease can be one of the most difficult facing the neurologist. Those patients found to have lobar atrophy usually present clinically with bouts of irrational behavior, bulimia, marked reductions in speech, abulia, and apathy. In contrast with Alzheimer disease (AD), Pick disease generally is not associated with symptoms of memory loss or disorientation in regard...

Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations. Niemann-Pick disease (NPD) is a very rare lipid storage disease. A three-month-old girl presented with high fever (39°C), abdominal distension and paleness. ...

The molecular basis of Niemann-Pick disease, type A and B, has been confirmed by detection of mutations causing deficiency of the acid sphingomyelinase activity in the patients. It has been shown that mutations, which cause no activity of acid sphingomyelinase, are responsible for the type A and mutations which cause residual activities of the enzyme are responsible for the type B. Acid sphingo...

The clinical diagnosis of Pick disease can be one of the most difficult facing the neurologist. Those patients found to have lobar atrophy usually present clinically with bouts of irrational behavior, bulimia, marked reductions in speech, abulia, and apathy. In contrast with Alzheimer disease (AD), Pick disease generally is not associated with symptoms of memory loss or disorientation in regard...

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...