ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.

Effect of docosahexaenoic acid and olive oil supplementation on pup weight in alcohol-exposed pregnant rats.

Background: Low birth weight has been observed in offspring of alcoholic mothers due likely to unresolved inflammation and oxidative injury. Dietary lipids play a role in inflammation and its resolution. The primary objective was to investigate the effect of DHA and olive oil on the birth weight of pups born to alcohol-exposed dams. Methods: Pregnant rats were randomized to the control or three treatment (alcohol) groups. From gestational days (GD) 8-19, the control group received daily olive oil and malto/dextrose, whereas groups 2 and 3 received olive oil and low-dose alcohol or high-dose alcohol, respectively. Group 4 received daily DHA and high-dose alcohol. The dam's blood was collected on GD 15 and 20 for cytokine analysis. Dams were sacrificed on GD 20. The mean birth weight of pups was compared by one-way ANOVA with post hoc Duncan's test. Results: There was a significant increase in the pups' mean birth weight in the high-dose alcohol/DHA and high-dose alcohol/olive oil. Higher pro-inflammatory cytokines (IL-1ß and IL-12p70) were noted in the alcohol-exposed dams. Conclusions: DHA and olive oil supplementation in alcohol-exposed pregnant rats significantly increased their pups' birth weight despite having high pro-inflammatory cytokines. The mechanism of this effect remains to be determined.

A preliminary evaluation of glial cell line-derived neurotrophic factor (GDNF) levels in cerebrospinal fluid across various gestational ages and clinical conditions of the neonate.

BACKGROUND: This study aims to investigate glial cell derived neurotrophic factor (GDNF) levels in newborns' umbilical cord blood and cerebrospinal fluid across various perinatal growth parameters and clinical conditions. METHODS: Cord blood from 20 newborns and 58 residual CSF samples (stored after completion of clinical testing) were collected. GDNF levels were determined using GDNF ELISA kits from R&D Systems in triplicates with appropriate controls to eliminate background. RESULTS: Cord blood GDNF levels were significantly higher (p=0.004) in preterm newborns (n=6) (115.05±57.17,pg/ml) when compared to term newborns (n=14) (19.67±10.67,pg/ml). GDNF levels in CSF trended (p=0.07) higher in term newborns (n=10) (19.56±9.11,pg/ml) when compared to preterm newborns at term or post term corrected gestational ages (n=5) (14.49±3.53,pg/ml). CONCLUSIONS: GDNF levels in preterm newborns were higher in cord blood and lower in CSF as compared to term newborns. It is important to further study circulating and CSF-GDNF levels in newborns at different gestational ages and clinical conditions.