Publications by authors named "X Hernandorena"
Objective: To perform genotype-phenotype, clinical and molecular analysis in a large 3-generation family with autosomal dominant congenital spinal muscular atrophy.
Methods: Using a combined genetic approach including whole genome scanning, next generation sequencing-based multigene panel, whole genome sequencing, and targeted variant Sanger sequencing, we studied the proband and multiple affected individuals of this family who presented bilateral proximal lower limb muscle weakness and atrophy.
Results: We identified a novel heterozygous variant, c.
Article Synopsis
- Current estimates of health outcomes for preterm infants are essential for improving perinatal care and guiding clinical practices and parental decisions.
- The EPIPAGE-2 study analyzed the survival and health issues of infants born between 22 and 34 weeks of gestation in France in 2011, comparing results with a similar study from 1997.
- Survival rates significantly improved with gestational age, with only 0.7% survival for infants under 24 weeks compared to 98.9% for those born at 32-34 weeks, while neonatal morbidity also decreased alongside gestational age.
We report a rare case of mother-infant pair with Staphylococcal Toxic Shock Syndrome (TSS). A term neonate was born by caesarean section for maternal septic syndrome during per-partum. He presented with respiratory distress complicated by pulmonary hypertension, skin rash, and multiple organ system involvement.
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