Publications by authors named "Noa Averbuch"

Article Synopsis
  • * A study of Bukharan Jewish patients revealed that this variant is linked to severe forms of the disease, with symptoms often presenting in children around 8.7 years old, including liver issues.
  • * The detected carrier frequency of the variant is approximately 1 in 30, suggesting that screening for this genetic variant should be incorporated into pre-symptomatic and newborn screening programs to prevent serious health complications.
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Objectives: Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes, diagnosed before age 6 months. We aimed to describe the clinical characteristics, molecular genetics, and long-term follow-up of NDM patients from a single pediatric endocrine center in Israel.

Methods: Retrospective study (1975-2020) of all patients diagnosed with diabetes before 6 months of age, who tested negative for pancreatic autoantibodies.

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Purpose: Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.

Methods: We assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises.

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Objective: To evaluate maternal and breastfed infant's outcome following post-partum maternal use of methylergonovine.

Methods: A prospective, controlled observational study design was used. Mothers who contacted Beilinson Teratology Information Service (BELTIS) were followed by phone interview.

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Objective: Ascitic fluid in the peritoneal cavity may severely impair respiratory and renal function following neonatal heart surgery. It has been our practice to liberally insert percutaneous peritoneal catheters (PPCs) in order to manage fluid balance and thereby improve ventilatory function. We herein report our experience with PPC.

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