Publications by authors named "Vered Fleisher-Sheffer"

Article Synopsis
  • Rapid trio genome sequencing (rtGS) is being implemented in Israeli neonatal intensive care units (NICUs) to provide advanced care for critically ill newborns suspected of having genetic issues.
  • A study conducted from October 2021 to December 2022 involved 130 neonates, leading to a diagnostic rate of 50% for disease-causing genetic variants and 11% for variants of unknown significance (VUS).
  • Results showed a mean turnaround time for rapid reports of 7 days, with high engagement from medical staff regarding the clinical utility of the results (82% response rate to questionnaires).
View Article and Find Full Text PDF

Objective: Defining how pregnant women respond to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and vaccination is critical to optimize vaccination strategies that protect mother and infant at the epidemic. This study aimed to compare anti-SARS-CoV-2-spike immunoglobulin G (IgG) of vaccinated versus infected women and to determine the optimal timing of maternal vaccination during pregnancy at the time of epidemic.

Study Design: We collected maternal/cord blood at delivery (October 2021-March 2022) and measured anti-SARS-CoV-2-spike IgG geometric mean concentrations (IgG-GMCs) using a quantitative immunoassay.

View Article and Find Full Text PDF

Background: Prophylactic antibiotic use in preterm premature rupture of membranes is associated with significantly reduced intra-amniotic infection and improved neonatal outcome, although data are insufficient to determine the optimal antibiotic regimen. Ampicillin resistance has changed the epidemiology of neonatal sepsis.

Objective: This study aimed to determine the efficacy of two antibiotic regimens in prolonging the latency period in women with preterm premature rupture of membranes.

View Article and Find Full Text PDF

Maternal carriage and vertical transmission of extended-spectrum, beta-lactamase-producing (ESBL-E), such as , hamper the treatment of infections, resulting in high morbidity. is the most frequent cause of early-onset neonatal sepsis (EOS) in preterm infants, where ESBL-E are more frequently isolated. In this prospective, case-controlled study, maternal rectovaginal ESBL-E colonization and vertical transmission to preterm infants were assessed in 160 women with preterm premature rupture of membranes (PPROM; 57.

View Article and Find Full Text PDF

Objectives: Prophylactic antibiotic use in preterm pre-labor rupture of membranes (PPROM) is associated with a significant reduction in intra-amniotic infection and improved neonatal outcome. However, data is insufficient to determine the optimal antibiotic regimen. Considering the rise in Escherichia coli and Klebsiella pneumonia early-onset sepsis rate and the emergence of ampicillin resistance, our aim is to compare the efficiency of two antibiotic regimens in prolonging pregnancy and reducing infectious morbidity.

View Article and Find Full Text PDF

Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for CTX to screen archived newborn dried bloodspots (DBSs) or samples collected prospectively from a high-risk Israeli newborn population.

View Article and Find Full Text PDF

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy.

View Article and Find Full Text PDF

The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene revealed a novel homozygous c.

View Article and Find Full Text PDF

Nine premature infants developed early onset sepsis and/or pneumonia with Haemophilus influenzae during a period of 53 months (January 2000 -May 2004). Their respiratory problems were pneumonia-like rather than classic respiratory distress syndrome. In 8 of the cases, the pathogen was a beta-lactamase-negative, nontypable H.

View Article and Find Full Text PDF