Search

Introduction: Maternal thyroid disease is considered as a risk factor for abnormal thyroid function at birth, as well as for long-term morbidity in offspring. The potential harmful effects on the neonate had led to the clinical practice of thyroid function assessment in infants born to mothers with thyroid disease during pregnancy. In this study, we evaluated the usefulness of routine thyroid function tests for every newborn of a mother with thyroid dysfunction., Methods: Data were collected retrospectively from the medical files of mothers diagnosed with thyroid disease and their infants (496 mother-neonate pairs). All mothers with diagnosed thyroid disease who gave birth in the years 2016-2019 at our medical center were included., Results: Hypothyroidism was the most common maternal diagnosis (91.4%), among which 48.7% had Hashimoto's thyroiditis. Hyperthyroidism was diagnosed in 8.6% of the cohort - 71.6% of them with Graves' disease. None of the newborns was diagnosed with congenital hypothyroidism in the screening program. Thyroid-stimulating hormone was >10 mIU/L in 14.6% and >20 mUI/L in 2.2%; all had free thyroxine within normal range. Serum thyroid function test identified four infants with thyroid disease; two had congenital hypothyroidism not related to maternal thyroid disease, one had transient familial congenital hypothyroidism and one had neonatal Graves' disease., Conclusions: Thyroid function testing for all newborns of mothers with thyroid dysfunction seems redundant. However, in cases of congenital hypothyroidism in siblings, thyroid function test, in addition to newborn thyroid screening, is recommended, and more careful follow-up is indicated. In maternal Graves' disease, thyroid function test on days 2-3 of life is recommended.

Background: Mutations in GLIS3 cause a rare syndrome characterized by neonatal diabetes mellitus (NDM), congenital hypothyroidism, congenital glaucoma and cystic kidneys. To date, 14 mutations in GLIS3 have been reported, inherited in an autosomal recessive manner. GLIS3 is a key transcription factor involved in β-cell development, insulin expression, and development of the thyroid, eyes, liver and kidneys., Cases: We describe non-identical twins born to consanguineous parents presenting with NDM, congenital hypothyroidism, congenital glaucoma, hepatic cholestasis, cystic kidney and delayed psychomotor development. Sequence analysis of GLIS3 identified a novel homozygous nonsense mutation, c.2392C>T, p.Gln798Ter (p.Q798*), which results in an early stop codon. The diabetes was treated with a continuous subcutaneous insulin infusion pump and continuous glucose monitoring. Fluctuating blood glucose and intermittent hypoglycemia were observed on follow-up., Conclusions: This report highlights the importance of early molecular diagnosis for appropriate management of NDM. We describe a novel nonsense mutation of GLIS3 causing NDM, extend the phenotype, and discuss the challenges in clinical management. Our findings provide new areas for further investigation into the roles of GLIS3 in the pathophysiology of diabetes mellitus., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 London, De Franco, Elias-Assad, Barhoum, Felszer, Paniakov, Weiner and Tenenbaum-Rakover.)

Purpose: To identify peripartum events that may predict the development of short-term neurologic morbidity and mortality among acidemic neonates., Methods: Retrospective case-control study conducted at a single-teaching hospital on data from January 2010 to December 2015. The study cohort group included all acidemic neonates (cord artery pH ≤ 7.1) born at ≥ 34 weeks. Primary outcome was a composite including any of the following: neonatal encephalopathy, convulsions, intra-ventricular hemorrhage, or neonatal death. The study cohort was divided to the cases group, i.e., acidemic neonates who had any component of the primary outcome, and a control group, i.e., acidemic neonates who did not experience any component of the primary outcome., Results: Of all 24,311 neonates born ≥ 34 weeks during the study period, 568 (2.3%) had a cord artery pH ≤ 7.1 and composed the cohort study group. Twenty-one (3.7%) neonates composed the cases group. Multivariate logistic regression analysis revealed that cases were significantly more likely to have experienced placental abruption (OR 18.78; 95% CI 5.57-63.26), born ≤ 2500 g (OR 13.58; 95% CI 3.70-49.90), have meconium (OR 3.80; 95% CI 1.20-11.98) and cord entanglement (OR 5.99; 95% CI 1.79-20.06). The probability for developing the composite outcome rose from 3.7% with isolated acidemia to 97% among neonates who had all these peripartum events combined with intrapartum fetal heart rate tracing category 2 or 3., Conclusion: Neonatal acidemia carries a favorable outcome in the vast majority of cases. In association with particular antenatal and intrapartum events, the short-term outcome may be unfavorable.

Objective: Gentamicin is an important factor in the empiric therapy of premature babies with suspected invasive bacterial infection. The aims of the study were to assess the tolerability of short course of gentamicin in preterm neonates., Patients and Methods: Preterm neonates aged 24 hours or less who were born at 32-37 weeks of gestation and weighed over 1500 grams were included in the study. Those infants suspected of having invasive non-CNS bacterial infection were assigned to treatment with ampicillin 50 mg/kg twice daily and either ODD (once daily dosing) or twice daily dosing (TDD) of gentamicin 5 mg/kg/day (17 and 18 patients, respectively). Neonates with shock, impaired renal function and known kidney, ear, and heart malformations, and metabolic disease were excluded from the study. At 72 to 96 hours of therapy, serum and urine creatinine, and sodium concentrations, peak (PGt) and though (TGt) serum levels of gentamicin, and urinary lysosyme secretion were measured. Fractional excretion of sodium (FeNa), and glomerullar filtration rate (GFR) were calculated for each infant. Audiometric evaluation was performed at 1 to 2 months of age., Results: For the ODD and TDD groups respectively, the values of serum creatinine, FENa, GFR, and urinary lyzozim were similar. The mean SD PGt levels were 9.9 +/- 4.6 vs 5.9 +/- 1.9 g/ml (p < 0.04), and that of the TGt levels was 1.55 +/- 0.55 vs 2.4 +/- 0.9 micrograms/ml (p = 0.028), Ten (55.6%) vs 3(23.1%) of the TDD and ODD groups respectively had TGt levels above 2 micrograms/ml (p = 0.035). Audiometric evaluation was normal in all infants., Conclusions: Short course of ODD of gentamicin could be safe and potentially more effective in preterm babies.