2,910 results match your criteria: "Children's Medical Center of Israel[Affiliation]"

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genet Med

June 2023

University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.

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.
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Myocarditis following COVID-19 vaccination in adolescents: Cardiac magnetic resonance imaging study.

Front Cardiovasc Med

October 2022

Department of Cardiology, Rabin Medical Center, Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Introduction: Vaccination-associated myocarditis was reported following COVID-19 vaccine initially among persons aged 16 or older and recently among adolescents aged 12-15.

Objectives: To describe the clinical and cardiac magnetic resonance (CMR) characteristics of adolescents aged 12-15 with myocarditis following the administration of the BNT162b2 mRNA COVID-19 vaccine.

Methods: CMR of adolescents (age 12-15) with a clinical diagnosis of myocarditis within 42 days following the first COVID-19 vaccine were analyzed.

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Tolerability of baked milk consumption in children with food protein-induced enterocolitis syndrome.

J Allergy Clin Immunol Pract

January 2023

Division of Pediatric Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Division of Pediatric Allergy and Pulmonary Medicine, Washington University School of Medicine, St Louis Mo.

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Purpose: Fetal growth assessment is a key component of prenatal care. Sex-specific fetal brain nomograms on ultrasound are available and are clinically used. In recent years, the use of fetal MRI has been increasing; however, there are no sex-specific fetal CNS nomograms on MRI.

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Spontaneous Pneumomediastinum Resulting From Passionate Cheering at a Soccer Match.

Mil Med

July 2023

Israel Defense Forces Medical Corps, Surgeon General's Headquarters, Ramat Gan 52621, Israel.

Spontaneous pneumomediastinum is a rare and self-limiting clinical entity, often triggered by activities causing acute changes in intrathoracic pressure such as childbirth, strenuous exercise, vomiting, and coughing. We present a case of a young male soldier who developed spontaneous pneumothorax following persistent yelling while attending a soccer match. Spontaneous pneumomediastinum may be preceded by a variety of strenuous activities, and clinicians should be aware of this entity when performing the evaluation of patients with nonspecific symptoms such as chest pain and dyspnea.

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Article Synopsis
  • The study evaluated changes in pediatric foreign body aspiration (FBA) cases during the COVID-19 pandemic compared to previous years, finding fewer visits to emergency departments overall.
  • A total of 345 children with FBA were studied, showing a decline in cases during lockdown (5.1 average monthly cases) compared to the pre-COVID-19 average (5.75 cases), with an increase in cases post-lockdown (6.3 cases).
  • Results indicated no overall change in the prevalence of FBA during the pandemic year, but there was a significant increase in the use of flexible bronchoscopy for removal, rising from 15.4% to 30.4%.
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Volumetric Brain MRI Study in Fetuses with Intrauterine Growth Restriction Using a Semiautomated Method.

AJNR Am J Neuroradiol

November 2022

From the Sackler School of Medicine (R.P., M.G., S.F., Y.R., A.M., E.K.), Tel Aviv University, Tel Aviv, Israel.

Background And Purpose: According to the medical literature, it is known that intrauterine growth restriction is associated with abnormal fetal brain findings. The aim of this study was to assess the volume of fetal brain structures in fetuses with intrauterine growth restriction compared with the control group and to examine the effect of intrauterine growth restriction on birth weight in relation to the effect on the volumes of these structures.

Materials And Methods: This historical cohort study included 26 fetuses diagnosed with intrauterine growth restriction due to placental insufficiency.

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Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The most commonly mutated genes encode proteins involved in skeletal muscle excitation-contraction coupling, calcium regulation, sarcomeric proteins and thin-thick filament interaction.

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World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow's Milk Allergy (DRACMA) guideline update - XIII - Oral immunotherapy for CMA - Systematic review.

World Allergy Organ J

September 2022

Department of Health Research Methods, Evidence & Impact and Department of Medicine, Division of Clinical Immunology and Allergy, McMaster University, Hamilton, Ontario, Canada.

Background: Allergy to cow's milk is the most common food allergy in infants and it is usually outgrown by 5 years of age. In some individuals it persists beyond early childhood. Oral immunotherapy (OIT, oral desensitization, specific oral tolerance induction) has been proposed as a promising therapeutic strategy for persistent IgE-mediated cow's milk allergy.

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Aim: To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders.

Method: In this international multicentre retrospective study, we contacted a CASK parents' social media group and colleagues with expertise in cerebellar malformations and asked them to supply clinical and imaging information. Centiles and standard deviations (SD) were calculated according to age by nomograms.

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Objective: To analyze whether the coronavirus disease 2019 (COVID-19) pandemic increased the number of cases or impacted seasonality of new-onset type 1 diabetes (T1D) in large pediatric diabetes centers globally.

Research Design And Methods: We analyzed data on 17,280 cases of T1D diagnosed during 2018-2021 from 92 worldwide centers participating in the SWEET registry using hierarchic linear regression models.

Results: The average number of new-onset T1D cases per center adjusted for the total number of patients treated at the center per year and stratified by age-groups increased from 11.

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Primary care physicians present a gap of knowledge regarding the management of penicillin allergy.

Pediatr Allergy Immunol

September 2022

Allergy and Immunology Unit, Schneider Children's Medical Center of Israel, Tel Aviv University, Tel Aviv, Israel.

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Background: Idiopathic infantile hypercalcemia (IIH) etiologies include pathogenic variants in CYP24A1, leading to increased 1,25(OH) D, hypercalciuria and suppressed parathyroid hormone (PTH), and in SLC34A1 and SLC34A3, leading to the same metabolic profile via increased phosphaturia. IIH has not been previously described in CKD due to kidney hypodysplasia (KHD).

Methods: Retrospective study of children with bilateral KHD and simultaneously tested PTH and 1,25(OH)D, followed in a tertiary care center between 2015 and 2021.

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Objective: Previous data correlate preterm and low birth weight (LBW) with acute otitis media, but there is a gap concerning the relations with acute mastoiditis (AM). This study investigates the effect of LBW and preterm birth on AM disease severity, neuro-otological complications, and recurrence.

Study Design: Retrospective cohort.

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Atenolol treatment does not affect behavioral outcomes in pediatric patients with infantile hemangiomas: A case-control cohort study.

J Am Acad Dermatol

March 2023

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Department of Dermatology, Pediatric Dermatology Service, Sheba Medical Center, Ramat Gan, Israel. Electronic address:

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The role of DNA demethylation in liver to pancreas transdifferentiation.

Stem Cell Res Ther

September 2022

Dia-Cure, Acad. Nicolae Cajal Institute of Medical Scientific Research, Titu Maiorescu University, 040441, Bucharest, Romania.

Background: Insulin producing cells generated by liver cell transdifferentiation, could serve as an attractive source for regenerative medicine. The present study assesses the relationship between DNA methylation pTFs induced liver to pancreas transdifferentiation.

Results: The transdifferentiation process is associated with DNA demethylation, mainly at gene regulatory sites, and with increased expression of these genes.

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Dipeptidyl peptidase 9 (DPP9) is a direct inhibitor of NLRP1, but how it affects inflammasome regulation in vivo is not yet established. Here, we report three families with immune-associated defects, poor growth, pancytopenia, and skin pigmentation abnormalities that segregate with biallelic rare variants. Using patient-derived primary cells and biochemical assays, these variants were shown to behave as hypomorphic or knockout alleles that failed to repress NLRP1.

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Background: The infant fecal microbiome is known to impact subsequent asthma risk, but the environmental exposures impacting this association, the role of the maternal microbiome, and how the microbiome impacts different childhood asthma phenotypes are unknown.

Methods: Our objective was to identify associations between features of the prenatal and early-life fecal microbiomes and child asthma phenotypes. We analyzed fecal 16 s rRNA microbiome profiling and fecal metabolomic profiling from stool samples collected from mothers during the third trimester of pregnancy (n = 120) and offspring at ages 3-6 months (n = 265), 1 (n = 436) and 3 years (n = 506) in a total of 657 mother-child pairs participating in the Vitamin D Antenatal Asthma Reduction Trial.

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Objective: Ultrasound (US)-guided durable tunneled femoral central venous catheters (TF-CVCs) are a safe central venous access option in infants and neonates. Studies have shown, however, that femoral central venous access has the potential for high central line-associated bloodstream infection (CLABSI) rates with a significant increase in risk for line-related thrombosis. Our aims were to describe the bedside insertion technique and evaluate the safety and complication rates of TF-CVCs in high-risk, young, pediatric cardiac intensive-care unit (PCICU) population.

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Consensus Recommendations for the Use of Automated Insulin Delivery Technologies in Clinical Practice.

Endocr Rev

March 2023

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, UMC - University Children's Hospital, Ljubljana, Slovenia, and Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

The significant and growing global prevalence of diabetes continues to challenge people with diabetes (PwD), healthcare providers, and payers. While maintaining near-normal glucose levels has been shown to prevent or delay the progression of the long-term complications of diabetes, a significant proportion of PwD are not attaining their glycemic goals. During the past 6 years, we have seen tremendous advances in automated insulin delivery (AID) technologies.

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Introduction: Adequate nutrition plays an important role in linear growth throughout childhood, including puberty. However, not all children are willing or able to consume an adequate and balanced diet daily. We aimed to evaluate the 1-year effectiveness and safety of nutritional supplementation on linear growth, weight gain, and changes in body composition in short and lean peripubertal boys.

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Background And Objective: Cryotherapy in interventional bronchoscopy is a new treatment modality, which has recently been made available for the paediatric airway. Lack of experience and safety concerns have led to hesitant adaptation. The aim of this study was to assess indications, success rates and complications of airway cryotherapy in children.

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