Unlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology.

I-cell disease (Mucolipidosis Type II) is a rare lysosomal storage disorder caused by GNPTAB gene defects, leading to severe morbidity and mortality. The authors present the case of a neonate born at 38 wk gestational age, with suspected skeletal dysplasia during pregnancy and a complex clinical and laboratory presentation after birth. This is a rare case, and its diagnosis was made through placental pathology, which revealed the condition called mucolipidosis Type II.

Association of epidural analgesia in labor with neurodevelopmental outcomes in premature infants born at <29 weeks of gestational age.

Objective: To explore associations between epidural administration to mothers in labor with neurodevelopmental outcomes at 3 years corrected age in preterm infants born <29 weeks gestational age.

Study Design: Infants born <29 weeks gestational age between 2006 and 2012 were included. Our primary outcome was a composite of death or neurodevelopmental impairment at 3 years corrected age.

Case report: Blotchy skin in a puffy neonate: is there a new association?

Introduction: Purpura fulminans in the neonatal population is a rare but potentially life-threatening condition complicated by thrombosis, resultant vital organ necrosis, and gangrene of the extremities. Considering the rapid evolution of the pathogenetic mechanism, an index of suspicion, early identification, and prompt intervention are imperative for improved outcomes. The majority of purpura fulminans cases have an infectious etiology, but it is essential to consider other congenital and acquired causes.

Caesarean section and neonatal survival and neurodevelopmental impairments in preterm singleton neonates.

Introduction: Evidence is lacking regarding the benefit of caesarean section (CS) for long-term neurodevelopmental outcomes in singleton preterm neonates. Therefore, uncertainty remains regarding obstetrical best practice in the delivery of premature neonates.

Objective: Our objective was to determine the association between the mode of delivery and neurodevelopmental outcomes in preterm singleton neonates who were delivered by vaginal route (VR), CS with labour (CS-L), or CS without labour (CS-NL).

SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.

We used patient dermal fibroblasts to characterize the mitochondrial abnormalities associated with the dilated cardiomyopathy with ataxia syndrome (DCMA) and to study the effect of the mitochondrially-targeted peptide SS-31 as a potential novel therapeutic. DCMA is a rare and understudied autosomal recessive disorder thought to be related to Barth syndrome but caused by mutations in , a protein of unknown function localized to the mitochondria. The clinical disease is characterized by 3-methylglutaconic aciduria, dilated cardiomyopathy, abnormal neurological development, and other heterogeneous features.

Does duration of caffeine therapy in preterm infants born ≤1250 g at birth influence neurodevelopmental (ND) outcomes at 3 years of age?

Objective: To evaluate the effect of duration of caffeine use on long-term neurodevelopmental (ND) outcomes at 3 years corrected age (CA) in preterm infants with birthweights (BW) ≤ 1250 g.

Design/methods: All surviving infants with BW ≤ 1250 g admitted to the Foothills Medical Center neonatal intensive care unit (NICU) from January 2002 to December 2009 who received the first dose of caffeine in the first week of life and were followed up at three years CA were included in the study. Demographics and follow-up outcomes were compared based on early cessation of caffeine ≤ 14 days (ECC), intermediate cessation of caffeine 15-30 days (ICC), and late cessation of caffeine >30 days (LCC).