No significant difference was found between the auditory performance of mutation positive and negative children after one year follow up (p > 0.05).
Conclusion: GJB2 gene mutations do not impact
on the outcome of cochlear implantation. (C) 2011 Elsevier Ireland Ltd. All rights reserved.”
“Muscle regeneration is a complex phenomenon, involving replacement of damaged fibers by new muscle fibers. During this process, there is a tendency to form scar tissue or fibrosis by deposition of collagen that could be detrimental to muscle function. New therapies that could regulate fibrosis and favor muscle regeneration would be important for physical therapy. Low-level laser therapy (LLLT) has been studied for clinical treatment of skeletal muscle injuries and disorders, even though the molecular and cellular mechanisms have not yet been clarified. The aim of this study was to evaluate the effects of LLLT on BIX 01294 solubility dmso molecular markers involved in muscle fibrosis and regeneration after cryolesion of the tibialis anterior (TA) muscle in rats. Sixty Wistar rats were randomly divided into three groups: control, injured TA muscle without LLLT, injured TA muscle treated with LLLT. The injured region was irradiated daily for four consecutive days, starting immediately after the lesion using an AlGaAs laser
(808 nm, 30 mW, 180 J/cm(2); 3.8 W/cm(2), 1.4 J). The animals were sacrificed on the fourth day after injury. LLLT significantly reduced the lesion percentage area in the injured muscle (p < 0.05), increased mRNA levels of the transcription factors MyoD and myogenin SBE-β-CD datasheet (p < 0.01) and the pro-angiogenic vascular endothelial growth factor (p < 0.01). Moreover, LLLT decreased the expression of the profibrotic transforming growth factor TGF-beta mRNA (p < 0.01) and reduced Proteasome purification type I collagen deposition (p < 0.01). These results suggest that LLLT could be an effective therapeutic approach for promoting skeletal muscle regeneration while preventing tissue fibrosis after muscle injury.”
“Background:
Population screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified in 1991. Advances in understanding the molecular basis of fragile X syndrome (FXS) and in genetic testing methods have led to new, less expensive methodology to use for large screening endeavors. A core criterion for newborn screening is an accurate understanding of the public health burden of a disease, considering both disease severity and prevalence rate. This article addresses this need by reporting prevalence rates observed in a pilot newborn screening study for FXS in the US.
Methods: Blood spot screening of 14,207 newborns (7,312 males and 6,895 females) was conducted in three birthing hospitals across the United States beginning in November 2008, using a PCR-based approach.