The mucopolysaccharidoses (MPSs) are a heterogeneous group of inherited metabolic disorders caused by enzyme deficiencies that lead to progressive lysosomal storage of glycosaminoglycans. Musculoskeletal manifestations are common across all forms of MPS and are often apparent early in the disease course. Diagnostic delays occur frequently in these patients, especially those with more attenuated...

Copyright: © 2012 Cai L, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Before the introduction of the high throughput mRNA sequencing method (RNA-seq), genome-wide gene expression studies largely reli...

The lysosomal storage disorders are a group of diseases that typified by an accumulation waste products in the lysosomes. Mucopolysaccharidoses due to diverse enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented our metabolic bone clinic with clinical features were suggestive genetic syndrome associated disease. urine GAG spot test positive. MPS screen identified reduction...

EPConDB (http://www.cbil.upenn.edu/EPConDB) is a public web site that supports research in diabetes, pancreatic development and beta-cell function by providing information about genes expressed in cells of the pancreas. EPConDB displays expression profiles for individual genes and information about transcripts, promoter elements and transcription factor binding sites. Gene expression results ar...

Multiparadigm programming allows the programmer to write the implementation of a system in a number of different paradigms. We describe our approach to multiparadigm programming based on modeling programming paradigms as object classes. In particular, objects can be used to encapsulate program modules, and classes to encapsulate their respective paradigms. The paradigm class hierarchy can then ...

This randomized waitlist control study examined the efficacy of Thought Field Therapy (TFT) in reducing Posttraumatic Stress Disorder symptoms in survivors of the 1994 genocide in Rwanda. Participants included 145 adult genocide survivors randomly assigned to an immediate TFT treatment group or a waitlist control group. Group differences adjusted for pretest scores and repeated measures anovas ...

After the first draft sequence of human genome is obtained, the next challenge will be to discover and understand the function and variation of genes and to understand how such qualities affect health and disease. For the sake of this, several powerful techniques for collecting gene expression patterns have been developed, such as microarrays [3], SAGE [7], BodyMap [5] and MPSS [2]. Although th...

Development and refinement of methods to analyse differential gene expression has been essential in the progress of molecular biology. A novel approach called iGentifier is presented for profiling known and unknown transcriptomes, thus bypassing a major limitation in microarray analysis. The iGentifier technology combines elements of fragment display (e.g. Differential Display or RMDD) and tag ...

Our goal in developing Microphysiological Systems (MPS) technology is to provide an improved approach for more predictive preclinical drug discovery via a highly integrated experimental/computational paradigm. Success will require quantitative characterization of MPSs and mechanistic analysis of experimental findings sufficient to translate resulting insights from in vitro to in vivo. We descri...