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Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells
Discussion Treg represent a lineage of T cells which play a fundamental role in maintaining humoral tolerance in the periphery. This subset of “suppressor T cells” is identified as FoxP3-expressing CD4+ T cells (16, 17). The unrestrained expression of FoxP3 is essential for the development and function of Treg (4). Accordingly, a disruption of the Foxp3 gene in scurfy mice results in an autoimmune lymphoproliferative disorder with fatal multi-organ inflammation (18). Since the causative mutation occurs in orthologous genes, the scurfy phenotype is indicated as the murine equivalent of the human IPEX sy...
Source: Frontiers in Immunology - April 23, 2019 Category: Allergy & Immunology Source Type: research

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Publication date: Available online 5 April 2018 Source:The Lancet Author(s): Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews Background Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excita...
Source: The Lancet - April 7, 2018 Category: General Medicine Source Type: research

A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach
Discussion With new developments in computational power and data availability, a growing amount of research is using a systems biology approach to understand pathogenesis and progression of disease. Effective and integrated in vitro and in silico models could inform biological phenomena, even without the need of a living subject. For instance, over the last few decades, collagen hydrogel with muscle derived cells (CHMDCs) have promised to revolutionize in vitro experiments and tissue engineering. For CHMDCs to reach the envisioned use, verification by use of mathematical simulations are needed. Recently while examining sha...
Source: PLOS Currents Muscular Dystrophy - February 16, 2018 Category: Neurology Authors: Matthew Houston Source Type: research

Influenza A Virus Infection Damages Zebrafish Skeletal Muscle and Exacerbates Disease in Zebrafish Modeling Duchenne Muscular Dystrophy
DISCUSSION Here, we investigated the effects of an infectious disease on skeletal muscle tissue alone and in combination with a genetic muscle disease. We found that human IAV can infect zebrafish muscle fibers and cause fiber damage via loss of sarcolemma integrity and/or loss of ECM adhesion external to the sarcolemma. Additionally, we showed that molecular and cellular markers of inflammation are present in muscle tissue in response to IAV infection. Finally, we showed that an infectious disease in combination with a genetic muscle disease greatly worsens the severity of muscle tissue degeneration. Taken together, our r...
Source: PLOS Currents Muscular Dystrophy - October 25, 2017 Category: Neurology Authors: Clarissa Henry Source Type: research

First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open-label randomised trial
This study is registered with ClinicalTrials.gov, number NCT00784589. Findings Between May 10, 2010, and Dec 7, 2012, we enrolled 91 patients and randomly assigned 90 to treatment (90 were analysed; 1 patient withdrew consent before the random assignment). At month 24, 41 (89%) of 46 patients assigned to rituximab plus short-term prednisone were in complete remission off-therapy versus 15 (34%) of 44 assigned to prednisone alone (absolute difference 55 percentage points, 95% CI 38·4–71·7; p<0·0001. This difference corresponded to a relative risk of success of 2·61 (95% CI 1·71–3·99, p<0·0001), corr...
Source: The Lancet - March 23, 2017 Category: Journals (General) Source Type: research

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research