Abstract Niemann Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic variants in the Npc1 or Npc2 genes that lead to the accumulation of cholesterol and lipids in lysosomes.NPC1 deficiency causes neurodegeneration, dementia and early death.Cerebellar Purkinje cells (PCs) are particularly hypersensitive to
Submassive Central Saddle and Extensive Bilateral Pulmonary Embolism Presenting as Syncope Treated with Catheter-directed Therapy
Massive and submassive pulmonary emboli (PE) are rare but potentially life-threatening medical conditions that necessitate immediate recognition and appropriate treatment.We report a 52-year-old man who was found to have a submassive central B12 FOLATE saddle and extensive bilateral PEs after experiencing a syncopal event and who had evidence of ri
Autopsies in elderly deceased
Introduction: The World Health Organization promotes Probes a commitment to healthy aging.The autopsy is the most complete method for the study of the diseases and in the elderly deceased their health problems are evidenced.Objective: To show the particularities in ages, sex, chronic diseases, in particular malignant tumors, sepsis and causes of de
An integral assessment of landslide dams generated by the occurrence of rainfall-induced landslide and debris flow hazard chain
Landslides caused by rainfall are one of the most frequent causes of disasters in tropical countries and mountainous terrain and can block rivers generating landslide dams.This paper presents a methodology for the estimation of the obstruction of water streams generated by rainfall-induced shallow landslides.The spatial distribution of the landslid
ApoE plasma levels and risk of cardiovascular mortality in old age.
Soup Spoons BackgroundThe epsilon2, epsilon3, and epsilon4 alleles of the apolipoprotein E gene (APOE) encode three isoforms, apoE2, E3, and E4, respectively.The apoE isoforms circulate in different plasma concentrations, but plasma concentrations of the same isoform also differ between individuals.Whereas the isoforms have been associated with car