Inflammasome pattern recognition receptors, which belong to the family of multi-meric proteins, play an important role in innate immunity, including NLRPs, NLRC, and NAIP. Among these receptors, NLRP3 (nucleotide-binding domain (NOD)-like receptor protein 3) inflammasome may activate the inflammation and participate in atherosclerosis, pathophysiology of myocardial infarction, resultin ischemia...

objective we describe three patients with very severe spinal muscular atrophy (sma) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. in all infants, electrodiagnostic studies were compatible with a neurogenic pattern. in genetic studies, all cases had homozygous deletions of exons 7 and 8 of survival motor neuron (smn) a...

La atrofia muscular espinal corresponde al conjunto de enfermedades base genética que afecta las neuronas la asta anterior médula espinal. Se presenta el caso paciente referida neuropediatría por presentar fenotipo clínico compatible con Atrofia Muscular Espinal tipo 2. Después evaluación clínica se procede a tomar muestra para estudio molecular del gen SMNI mediante técnica MLPA. Los resultado...

[1] High-resolution images of the walls exposed in Valles Marineris reveal variations in appearance and degree of layering indicating various lithologies comprise the Tharsis plateau. The layered wall rock has been proposed to result from effusive flood basalt volcanism or interbedded sediments and volcanics. We present observations of unlayered rock that indicate layering extends to a greater ...

We report a floppy infant with Werdnig-Hoffmann disease (spinal muscular atrophy: SMA type 1) and Klinefelter syndrome. After genetic counseling with parents, a genetic diagnosis using DNA from the infant's peripheral blood mononuclear cells was performed. The parents' deletion of exons 7 and 8 of the survival motor neuron (smn) gene and exons 4 and 5 of the neuronal apoptosis inhibitory protei...