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\u27 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

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