A5056939345- Mitochondrial Function and Pathology
- MicroRNA in disease regulation
- Metabolism and Genetic Disorders
- Ion channel regulation and function
- Cardiac electrophysiology and arrhythmias
- Circular RNAs in diseases
- RNA modifications and cancer
- Congenital Heart Disease Studies
- Congenital heart defects research
- Genomics and Rare Diseases
- Cardiac Valve Diseases and Treatments
- Kawasaki Disease and Coronary Complications
- PI3K/AKT/mTOR signaling in cancer
- Cardiovascular Function and Risk Factors
- Chronic Myeloid Leukemia Treatments
- Williams Syndrome Research
- Mechanical Circulatory Support Devices
- Aortic Disease and Treatment Approaches
- Cardiac Ischemia and Reperfusion
- Cardiomyopathy and Myosin Studies
- Cancer-related molecular mechanisms research
- Acute Myeloid Leukemia Research
- Coronary Artery Anomalies
- Genetic and Kidney Cyst Diseases
- Trypanosoma species research and implications
Tel Aviv University
2017-2025
Edmond and Lily Safra Children's Hospital
2014-2025
Sheba Medical Center
2014-2025
Arthur M. Sackler Gallery
2021
Hospital for Sick Children
2019
SickKids Foundation
2019
University of Toronto
2019
Hebrew University of Jerusalem
2004
Current guidelines recommend initiating family screening for hypertrophic cardiomyopathy (HCM) after age 10 or 12 years unless early criteria are met. The aim was to evaluate if current miss onset disease.Children who underwent HCM before 18 were analysed. Major cardiac events (MaCEs) defined as death, sudden death (SCD), need major interventions (myectomy, implantable cardioverter-defibrillator insertion, transplantation). Of 524 children screened, 331 under of age, 9.9% had...
Patients with single large-scale mitochondrial DNA (mtDNA) deletion syndromes (SLSMDs) usually present multisystemic disease, either as Pearson syndrome in early childhood or Kearns-Sayre later life. No disease-modifying therapies exist for SLSMDs. We have developed a method to enrich hematopoietic cells exogenous mitochondria, and we treated six patients SLSMDs through compassionate use program. Autologous CD34 + were augmented maternally derived healthy technology termed augmentation...
ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024. Results The cohort included 18 individuals (9 males). mean age at diagnosis was 4 ± 3.8 years analysis 12 5.2 years. All patients exhibited least one disorder within 5 post‐diagnosis. most common...
Abstract Background Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global developmental delay (GDD)/intellectual disability (ID) and autism spectrum disorder (ASD), PMS characterized multiple neurologic, behavioral multisystemic manifestations. Methods We aimed establish database individuals with in Israel. All participants underwent detailed evaluation at single medical center, demographic, clinical, genetic...
Background The molecular basis of heterotaxy and congenital heart malformations associated with disruption left–right asymmetry is broad heterogenous, over 25 genes implicated in its pathogenesis thus far. Objective We sought to elucidate the laterality disorders defects a cohort 30 unrelated probands Arab–Muslim descent, using next-generation sequencing techniques. Methods Detailed clinical phenotyping followed by whole-exome (WES) was pursued for each their parents (when available). Sanger...
To test the hypothesis that cardiac-enriched micro-RNAs can serve as accurate biomarkers reflect myocardial injury and to predict postoperative course following pediatric cardiac surgery. Micro-RNAs have emerged plasma for many pathologic states. We aimed quantify preoperative levels of micro-RNA-208a, -208b, -499 in children undergoing surgery evaluate correlations between their levels, extent damage, clinical course.PICU.Thirty patients underwent open heart correction congenital defects...
TOP mRNAs are translationally controlled by mitogenic, growth, and nutritional stimuli through a 5'-terminal oligopyrimidine tract. Here we show that LiCl can alleviate the translational repression of these when progression cell cycle is blocked at G(0), G(1)/S, or G(2)/M phases in different lines various physiological chemical means. This derepressive effect does not involve resumption division. Unlike its efficient mitotically arrested cells, alleviates inefficiently amino acid-deprived...
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over variety subspecialties, it is not yet routinely used by hospitalists. We aim investigate the impact sequencing-naive suspected having monogenic disorders while receiving inpatient care. Methods: prospectively employed service at large tertiary medical center Israel....
The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% patients with lack a genetic diagnosis.
Abstract The genetic basis of congenital heart malformations associated with disruption left–right (L–R) asymmetry is broad and heterogenous, variants in over 25 genes implicated thus far. Of these, deleterious the Growth/Differentiation Factor 1 ( GDF1 ) gene have been shown to cause heterotaxy varied complex patterning, 23 individuals reported date, either monoallelic or biallelic state. We report three unrelated exhibiting right isomerism defects, each originating from a consanguineous...
Pearson syndrome (PS) and Kearns-Sayre (KSS) are single large-scale mitochondrial DNA deletion (SLSMD) syndromes. PS is characterized by severe, transient childhood cytopenia, whereas KSS typically manifests later in life without hematologic abnormalities. Despite distinct clinical presentations, both share a common deletion. Recent observations suggest potential link between progression myeloid malignancy development, indicating that bone marrow failure (BMF) may be key aspect of pathology...
Background and aims: It is well documented that congenital heart surgery characteristically associated with post-operative myocardial damage the consequential low-cardiac-output state. Circulating Micro-RNAs (miRNAs) have emerged as potential diagnostic markers for numerous pathological states. Recently, it has been shown cardiac-specific miRNA-208a,-208b,-499 could be used reliable biomarkers acute infarction in adults. Aims: We hypothesized plasma levels of rise after cardiac children,...