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). METHODS: Singleton neonates of less than 29 weeks' gestation born January 1995 through December 2010 and admitted to our NICU and then assessed at neonatal follow-up clinic were studied. The primary outcome was neurodevelopmental impairment (NDI) defined as cerebral palsy, cognitive delay, major or minor visual impairment, or hearing impairment or deafness at 36 months' corrected age. RESULTS: In this retrospective cohort study of 1,452 neonates, 1,000 were eligible for the study and 881 (88.1%) were available for follow-up. There was no significant difference in mortality between VR group, CS-L group, and CS-NL group. At 3 years, there was no significant difference between the three groups in terms of NDI. The odds of composite outcome of mortality or NDI for neonates born via CS-NL versus VR, and CS-L versus VR were 0.90 (95% confidence interval [CI]: 0.59 to 1.37) and 1.08 (95% CI: 0.72 to 1.61), respectively. Propensity score-based matched-pair analyses did not show a significant association between the composite outcome and CS with or without labour. CONCLUSIONS: CS was not associated with increased survival or decreased risk of NDI in premature singleton neonates born at less than 29 weeks' gestation.

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. To the best of authors' knowledge, this is one of the few cases diagnosed in the neonatal period with placental pathology globally and the first in Canada, highlighting the significance of placental pathology for the diagnosis of these rare conditions and future counseling of the parents. In conclusion, mucolipidosis Type II is a rare condition in neonates. Early diagnosis in neonates can be made through placental pathology for parental counseling.

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. Infants were divided into those whose mothers did or did not receive epidural analgesia in labor. Univariable and multivariable regression was used for analysis. RESULTS: There were 548 infants in the no epidural analgesia group and 121 in the epidural analgesia group. The adjusted odds ratio (95%CI) of neurodevelopmental impairment or death in the epidural group was 1.25 (0.82-1.93). Propensity score-matched results were 1.32 (0.79-2.22). CONCLUSION: Preterm infants born <29 weeks gestational age to mothers who received epidural analgesia during labor were not associated with poor neurodevelopmental outcomes 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. Case description: We present a clinical case of a female neonate to emphasize the correlation between purpura fulminans, congenital chylothorax, involvement of the PAK2 gene, and the occurrence of retinal detachment in both eyes. After draining the congenital chylothorax, the neonate developed purpura fulminans due to a loss of protein C, S, and antithrombin factors, previously not reported in the literature. The purpuric lesions resolved after the administration of fresh frozen plasma. Subsequently, no recurring purpura fulminans lesions were noted following the normalization of the antithrombotic factor levels in the serum. Subsequently, the child also developed retinal detachment in both eyes.

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 DNAJC19, 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. Until recently no effective therapies had been identified and affected patients frequently died in early childhood from intractable heart failure. Skin fibroblasts from four pediatric patients with DCMA were used to establish parameters of mitochondrial dysfunction. Mitochondrial structure, reactive oxygen species (ROS) production, cardiolipin composition, and gene expression were evaluated. Immunocytochemistry with semi-automated quantification of mitochondrial structural metrics and transmission electron microscopy demonstrated mitochondria to be highly fragmented in DCMA fibroblasts compared to healthy control cells. Live-cell imaging demonstrated significantly increased ROS production in patient cells. These abnormalities were reversed by treating DCMA fibroblasts with SS-31, a synthetic peptide that localizes to the inner mitochondrial membrane. Levels of cardiolipin were not significantly different between control and DCMA cells and were unaffected by SS-31 treatment. Our results demonstrate the abnormal mitochondria in fibroblasts from patients with DCMA and suggest that SS-31 may represent a potential therapy for this devastating disease.

Do preterm infants with a birth weight ≤1250 g born to single-parent families have poorer neurodevelopmental outcomes at age 3 than those born to two-parent families?

OBJECTIVE: Investigate neurodevelopmental outcomes at 3 years corrected age in infants with a birth weight ≤1250 g born to single parents. STUDY DESIGN: Infants born between 1995 and 2010 with a birth weight ≤1250 g were considered eligible. Primary outcome was neurodevelopmental impairment; considered present if a child had any of the following: cerebral palsy, cognitive delay, visual impairment, or deafness/neurosensory hearing impairment. Univariate and multivariate analyses were performed. RESULT: A total of 1900 infants were eligible for inclusion. Follow-up data were available for 1395; 88 were born to a single parent. Infants in the single-parent group had higher mortality (18% vs. 11%, p = 0.009), IQ ≥1 SD below the mean (40% vs. 21%, p = 0.001) and any neurodevelopmental impairment (47% vs. 29%, p = 0.003). Single-parent family status, maternal education, bronchopulmonary dysplasia and severe neurological injury were significant predictors of intellectual impairment at 3 years corrected age. CONCLUSION: Preterm infants with a birth weight ≤1250 g born to single parents at birth have poorer intellectual functioning at 3 years corrected age.

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). The primary outcome of ND impairment was present if a child had any one of the following: cerebral palsy, cognitive delay, visual impairment, or hearing impairment or deafness. Univariate and logistic regression analyses were performed. RESULTS: Of the 508 eligible infants, 448 (88%) were seen at 3 years CA at follow-up. ECC (n = 139), ICC (n = 122) and LCC (n = 187) groups had a median (range) BW of 979 (560-1250), 1010 (530-1250), and 980 (520-1250) g (p = 0.524) and median (range) gestational age (GA) of 27 (23-33), 28 (24-33), and 27 (24-32) weeks, respectively (p = 0.034). In logistic regression models adjusting for GA, maternal smoking, and each neonatal risk factor separately (IVH, NEC, sepsis, blood transfusions, BPD, postnatal dexamethasone, SNAP-II, and ventilator days), none of the models showed a statistically significant association between caffeine duration and ND impairment. CONCLUSION: The duration of caffeine use in premature infants in the NICU does not impact on long-term ND outcomes at 3 years CA.