Publications by authors named "Merav Gil Margolis"
Context: Central congenital hypothyroidism (CCH) is a thyroid hormone deficiency at birth caused by inadequate pituitary stimulation of the thyroid gland. Although primary CH has been studied extensively, studies on CCH are sparse.
Objectives: To assess the prevalence of CCH in Israel and describe its clinical features, neonatal screening results, and outcomes.
Introduction: Diagnosing hypoglycemia in infants and children presents significant challenges. Our objective was to elucidate the diagnoses and clinical features of children with hypoglycemia referred to a pediatric endocrine tertiary clinic.
Methods: Retrospective study of 154 children (0-18 years old) presenting with hypoglycemia, during 1992-2018.
Aims: To find clinical and immunological signatures of the SARS-CoV-2 and the COVID-19 pandemic on children newly diagnosed with type 1 diabetes (T1D).
Methods: A single-centre, retrospective, observational study comparing the clinical and immunological characteristics of children diagnosed with T1D the year before and during the first 2 years of the COVID-19 pandemic. Data extracted from the medical records included clinical and demographic parameters, COVID-19 PCR results and the presence of anti-islet, thyroid and celiac-related antibodies.
Article Synopsis
- The study investigated the causes and effects of reversible acute liver failure (ALF) in infants due to harmful TRMU gene variants, focusing on the potential benefits of cysteine supplementation for treatment.
- Among 62 individuals studied, 47 pathogenic TRMU variants were identified, with nearly all patients experiencing liver issues and many surviving beyond early childhood despite severe ALF cases in infancy, including some who underwent liver transplants.
- Results indicated that liver failure was generally reversible in patients associated with TRMU variants, and cysteine supplementation significantly enhanced survival rates, although neurodevelopmental challenges persisted in some survivors.
Background: Optic pathway gliomas (OPGs) are classified by anatomic location and the association with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities. We assessed the prevalence of endocrine dysfunction in children with OPGs and compared outcomes between those with and without NF1.
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- The study aimed to assess the accuracy of blood cultures obtained from indwelling arterial catheters in critically ill pediatric patients, especially when traditional venipuncture is difficult.
- Conducted in a pediatric medical center's ICUs, the study involved 138 patients and compared blood culture results from both arterial catheters and peripheral venipuncture.
- Results showed that arterial catheter cultures demonstrated high sensitivity (85%) and specificity (95%) for diagnosing true bloodstream infections, making them a reliable alternative to peripheral blood cultures despite a slightly higher false-positive rate.
Introduction: Bi-allelic mutations in the TRMU gene cause reversible infantile liver failure. Little is known about extra-hepatic manifestations in these patients.
Background: Two infants, aged 4 and 5 months, presented with progressive life threatening liver failure, characterized by lactic acidosis, highly elevated alpha-fetoprotein and recurrent hypoglycemia.