Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Objective: This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples.

Methods: A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained.

Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.

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Maternal Exposure to Polychlorinated Biphenyls and Asthma, Allergic Rhinitis and Atopic Dermatitis in the Offspring: The Environmental Health Fund Birth Cohort.

Polychlorinated biphenyls (PCBs) are persistent organic pollutants banned for use worldwide. Due to their biodegradation resistance, they accumulate along the food chain and in the environment. Maternal exposure to PCBs may affect the fetus and the infant.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca pumps that participate in the regulation of intracellular free Ca. Here, we clinically describe a cohort of 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay.

The Global Spread of Severe Obesity in Toddlers, Children, and Adolescents: A Systematic Review and Meta-Analysis.

Introduction: Severe obesity among children and adolescents has emerged as a public health concern in multiple places around the world.

Methods: We searched the Medline database for articles on severe obesity rates in children published between January 1960 and January 2020. For studies with available prevalence rates for an early and a more recent time period, the relative increase in prevalence was imputed.

Progression of Pediatric Keratoconus After Corneal Cross-Linking: A Systematic Review and Pooled Analysis.

Purpose: Corneal collagen cross-linking (CXL) is an effective treatment to slow down keratoconus (KC) progression in adults. Several studies have also shown efficacious outcomes in pediatric populations, yet no systematic analysis has been performed and no accepted definition for progression is available in children after CXL. This study aimed to establish the most commonly used criteria for progression and to conduct a systematic review of the literature with pooled analysis to assess children's keratoconus progression after CXL.

Adolescent BMI and early-onset type 2 diabetes among Ethiopian immigrants and their descendants: a nationwide study.

Background: We assessed in a nationwide cohort the association between adolescent BMI and early-onset (< 40 years) type 2 diabetes among Israelis of Ethiopian origin.

Methods: Normoglycemic adolescents (range 16-20 years old), including 93,806 native Israelis (≥ 3rd generation in Israel) and 27,684 Israelis of Ethiopian origin, were medically assessed for military service between 1996 and 2011. Weight and height were measured.

Questioning the Value of Brain Magnetic Resonance Imaging in the Evaluation of Children with Isolated Growth Hormone Deficiency.

Background: Isolated growth hormone deficiency (IGHD) is a relatively common disorder. Current diagnostic protocol requires a brain magnetic resonance imaging (MRI) study of the hypothalamus and the hypophysis to determine the cause after establishment of the diagnosis. This study aimed to examine the yield of brain MRI in the evaluation of children with IGHD and to define clinical and laboratory parameters that justify its performance.

Socioeconomic inequalities and severe obesity-Sex differences in a nationwide study of 1.12 million Israeli adolescents.

Introduction: In a nationwide population of adolescents, we investigated the sex-specific association of socioeconomic position (SEP) with severe obesity, and trends over time.

Methods: The cohort comprises all Israeli adolescents (mean ± SD age 17.3 ± 0.

SARS-CoV-2 Rates in BCG-Vaccinated and Unvaccinated Young Adults.

This cohort study compares rates of coronavirus PCR test positivity among Israelis with symptoms suspicious for COVID-19 who did and did not receive BCG vaccination as part of routine childhood immunization in the early 1980s.

Paediatricians' attitudes and beliefs towards transgender people: a cross-sectional survey in Israel.

Objective: The number of transgender and gender non-conforming children is on the rise. For these children, the timing of medical intervention is crucial, yet transgender children report poorer overall physical and mental health outcomes compared with their cisgender peers. We aim to describe how paediatricians perceive transgender people.

The Knowledge and Attitudes of Pediatricians in Israel Towards Vegetarianism.

Objectives: Pediatricians have an important role in the dietary education of children, and in the nutritional health of their patients. We aimed to assess nutritional knowledge, familiarity with guidelines, and attitudes of pediatricians regarding vegetarian diets.

Methods: A cross-sectional study using a previously implemented questionnaire, distributed amongst a convenience sample of pediatricians in Israel.

Impact of Immigration on Body Mass Index and Blood Pressure Among Adolescent Males and Females: A Nationwide Study.

Immigration from one cultural milieu to another has been associated with a greater risk for incident cardio-metabolic morbidity among adults. In this nationwide, population-based, cross-sectional study of data recorded from 1992 to 2016, we assessed the association between body mass index and blood pressure levels among adolescent immigrants, aged 16 to 19 years, of Ethiopian origin, and their secular trend of overweight and obesity. Adolescents of Ethiopian origin were classified as Israeli-born (n=16 153) or immigrants (N=23 487), with stratification by age at immigration.

Frequency, comprehension and attitudes of physicians towards abbreviations in the medical record.

Aims: Abbreviations are common in the medical record. Their inappropriate use may ultimately lead to patient harm, yet little is known regarding the extent of their use and their comprehension. Our aim was to assess the extent of their use, their comprehension and physicians' attitudes towards them, using ophthalmology consults in a tertiary hospital as a model.

Diagnostic markers of acute infections in infants aged 1 week to 3 months: a retrospective cohort study.

Objective: History and physical examination do not reliably exclude serious bacterial infections (SBIs) in infants. We examined potential markers of SBI in young febrile infants.

Design: We reviewed white cell count (WBC), absolute neutrophil count (ANC), neutrophil to lymphocyte count ratio (NLR) and C reactive protein (CRP) in infants aged 1 week to 90 days, admitted for fever to one medical centre during 2012-2014.

Recurrent Immune Thrombocytopenia After Influenza Vaccination: A Case Report.

Immune thrombocytopenia (ITP) is an isolated autoimmune condition, often preceded by a viral infection. Vaccines, mainly the measles-mumps-rubella vaccine, have also been associated with an increased risk of developing the disease. Although some case reports of ITP after influenza immunization in adults have been published, epidemiologic studies examining the role of the influenza vaccine as a trigger of ITP have not conclusively proven causality.

Eating disorders in adolescents with type 1 diabetes: Challenges in diagnosis and treatment.

Eating disorders (ED) are characterized by a persistent disturbance of eating that impairs health or psychosocial functioning. They are associated with increased rates of medical complications and mortality. Insulin omission is a unique purging behavior available to individuals with type 1 diabetes mellitus (T1DM).

Trajectories of HbA1c levels in children and youth with type 1 diabetes.

Purpose: To illustrate the distribution of Hemoglobin A1c (HbA1c) levels according to age and gender among children, adolescents and youth with type 1 diabetes (T1DM).

Methods: Consecutive HbA1c measurements of 349 patients, aged 2 to 30 years with T1DM were obtained from 1995 through 2010. Measurement from patients diagnosed with celiac disease (n = 20), eating disorders (n = 41) and hemoglobinopathy (n = 1) were excluded.

Health risks of young adult travelers with type 1 diabetes.

Aim: International travel has become popular among young adults. This study evaluated the rate and characteristics of travel-associated health risks among young adults with type 1 diabetes mellitus (T1DM) compared with healthy same-aged individuals.

Methods: A retrospective study was conducted of 47 young adults with T1DM and 48 without (controls).