A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

Pathogenic germline variants in gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker muscular dystrophy (BMD, mild form) and intermediate muscular dystrophy (IMD). Muscle biopsy, immunohistochemistry, molecular (multiplex ligation-dependent probe amplification (MLPA)/next-generation sequencing (NGS) and Sanger methods) and in silico analyses were performed in order to identify alterations in gene and protein in a patient with a clinical manifestation and with high creatine kinase levels. Herein, we described a previously unreported intronic variant in and reduced dystrophin staining in the muscle biopsy.

Effect of Thermomechanical Treatments on the Phases, Microstructure, Microhardness and Young's Modulus of Ti-25Ta-Zr Alloys.

Titanium and its alloys currently are used as implants, possessing excellent mechanical properties (more suited than stainless steel and Co-Cr alloys), good corrosion resistance and good biocompatibility. The titanium alloy used for most biomedical applications is Ti-6Al-4V, however, studies showed that vanadium and aluminum cause allergic reactions in human tissues and neurological disorders. New titanium alloys without the presence of these elements are being studied.

[Analysis of infant mortality trends and risk factors in Porto Alegre, Rio Grande do Sul State, Brazil, 1996-2008].

The aim of this article was to determine trends in infant mortality and related risk factors in Porto Alegre, Rio Grande do Sul State, Brazil. The study was based on data from a live birth and infant death registry for the years 1996 to 2008. Times trends were analyzed for overall and partial infant mortality rates according to maternal schooling, number of prenatal visits, maternal age, number of live and dead children, sex of the newborn, type of delivery, birth weight, and type of hospital.