Niemann-Pick type C disease (NPC) is a rare and progressive genetic condition that is associated with an abnormal accumulation of lysosomal lipids in the body, which manifests as a variety of neurological symptoms that range greatly in severity. Management focuses largely on treating symptoms, but recent developments have led to disease-specific therapy that can slow or stabilise the progressio...

The hyperphosphorylation and proteolytic modification of the TAR DNA binding protein-43 (TDP-43) is a key finding in a number of neurodegenerative diseases including frontotemporal dementia with ubiquitin-positive inclusions (FTLD-U), amyotrophic lateral sclerosis (ALS), and most recently Alzheimer's disease (AD). To examine whether proteolytic modifications of TDP-43 is a relevant finding in P...

In 1956, quantum physicist N. Bogoliubov discovered the edge-ofthe-wedge theorem, a theorem used to analytically continue a function through the boundary of a domain under certain conditions. We discuss an analogous phenomenon, a wedge-of-the-edge theorem, for the boundary values of Pick functions, functions from the polyupperhalf plane into the half plane. We show that Pick functions which hav...

You are a contestant on a game show. There are three closed doors leading to three rooms. Two of the rooms contain nothing, but the third contains a luxury automobile which is yours if you pick the right door. You are asked to pick a door by the MC who knows which room contains the car. After you pick a door, the MC opens a door (not the one you picked) to show an empty room. Show that, even wi...

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...

A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...

This paper presents finite element analysis of the strength of roadheaher conical picks. Failure forms of conical picks are investigated, and the FE model of conical pick is established based on ANSYS. The static analysis is carried out according to the load calculated by empirical formula and the deformation map and stress distribution are obtained. The results show that the maximum stress of ...

Information management is the heart of the Pick Operating System. This easily used, multi-user operating system with virtual memory has an English-like retrieval language in which a data base manager, an extremely efficient programming language, and system utilities are all integral. Because of this structure and capabilities, Pick is actually more than a traditional operating system, it is an ...

This is a summary report of my recent articles. Nevanlinna theory asserts that each meromorphic mapping f of C into P(C) has few defects. However, it seems that meromorphic mappings with defects are very few. In this report, we shall show that for any given transcendental meromorphic mapping of C into P(C); there is a small deformation of f which has no Nevanlinna deficient hyperplanes in Pn(C)...

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....