Long term follow-up in two siblings with Sengers syndrome: Case report.

Background: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease.

Validation of the postnatal growth and retinopathy of prematurity screening criteria: A retrospective Italian analysis.

Purpose: Retinopathy of prematurity (ROP) is the leading cause of childhood blindness. The aim of our study is to validate the new screening criteria elaborated by the Postnatal Growth and Retinopathy of Prematurity (G-ROP) study group in a monocentric cohort of Italian preterm infants.

Methods: We retrospectively applied the G-ROP screening criteria to a cohort of preterm infants born between May 2015 and July 2020 with known birth weight, gestational age, serial weight measurement, and known ROP outcome.

Automated microseismic event location using Master-Event Waveform Stacking.

Accurate and automated locations of microseismic events are desirable for many seismological and industrial applications. The analysis of microseismicity is particularly challenging because of weak seismic signals with low signal-to-noise ratio. Traditional location approaches rely on automated picking, based on individual seismograms, and make no use of the coherency information between signals at different stations.

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.

Mucolipidosis type IV (MLIV) is a very rare disorder of late endosome/lysosome transport, characterized by neurodevelopmental abnormalities and progressive visual impairment owing to corneal clouding and retinal dystrophy. Greater than 70 % of MLIV patients are of Ashkenazi Jewish ancestry. Here we report a novel MCOLN1double mutant allele [c.

A prospective observational study of associated anomalies in Hirschsprung's disease.

Background: Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm.

Methods: After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included.