2,904 results match your criteria: "Children's Medical Center of Israel[Affiliation]"

Article Synopsis
  • Collagen VI-related dystrophies (COL6-RDs) include a range of conditions such as Ullrich congenital muscular dystrophy (UCMD), which features severe muscle weakness and respiratory issues, and Bethlem muscular dystrophy, which has milder and later-presenting symptoms.
  • Some patients with symptoms typical of COL6-RDs were previously undiagnosed until a deep intronic variant in COL6A1 was identified, leading to a severe form of UCMD in a cohort of 44 patients, except for one with a milder phenotype.
  • The study suggests that a new pseudoexon skipping therapy could effectively reduce the severity of UCMD symptoms by targeting the abnormal transcripts
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Introduction: Historically, neuroblastoma has been diagnosed by surgical open biopsy (SB). In recent decades, core needle biopsy (CNB) has replaced surgical biopsy due to its safe and adequate method of obtaining tissue diagnosis.

Aim: Our study aimed to assess the effectiveness of CNB in obtaining tissue diagnosis for neuroblastoma and evaluate its safety profile in terms of post-operative complications, in comparison to SB.

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Low-dose biliatresone treatment of pregnant mice causes subclinical biliary disease in their offspring: Evidence for a spectrum of neonatal injury.

PLoS One

April 2024

Department of Medicine, Division of Gastroenterology and Hepatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

Article Synopsis
  • Biliary atresia is a disease that affects newborns and causes problems with their liver and bile ducts due to inflammation and damage.
  • Scientists used pregnant mice to study how a toxin from plants (biliatresone) might affect their babies before they were born.
  • Even though the baby mice didn't show obvious damage to their liver, they had some changes in their bile and signs of inflammation, meaning that being exposed to this toxin can still cause health problems later on.
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Clinical Presentation of Patients with Eosinophilic Gastrointestinal Diseases beyond Eosinophilic Esophagitis.

Immunol Allergy Clin North Am

May 2024

Institute of Gastroenterology, Nutrition, and Liver Diseases, Schneider Children's Medical Center of Israel, Tel-Aviv University, 14 Kaplan Street, PO Box 559, Petach Tikvah 4920235, Israel.

The clinical presentation of eosinophilic gastrointestinal diseases beyond eosinophilic esophagitis (non-EoE EGIDs) varies depending on the gastrointestinal segments affected by the eosinophilic inflammation, the extent of eosinophilic inflammation within the gastrointestinal tract and its depth through the bowel wall. Non-EoE EGIDs with mucosal involvement tend to present with diarrhea, malabsorption, and sometimes bleeding, those with muscular involvement may present with symptoms of obstruction or pseudo-obstruction, intussusception, and even perforation, whereas those with serosal involvement may present with eosinophilic ascites. Here we describe the differences in symptoms experienced by children with non-EoE EGIDs with varying degrees of eosinophilic inflammation through the bowel wall.

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Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.

Clin Cancer Res

June 2024

Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.

Article Synopsis
  • * Many children with brain tumors display features of specific syndromes or have a family history of cancer, highlighting a potential genetic link to their tumors.
  • * Advances in molecular research have improved our understanding of CNS tumors, leading to better identification of germline predispositions, which can guide family testing and tumor management.
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An "On Demand" canakinumab regimen for treating children with Colchicine-Resistant familial Mediterranean fever - A multicentre study.

Int Immunopharmacol

May 2024

Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. Electronic address:

Objectives: Canakinumab, a human monoclonal antibody targeted at interleukin-1 beta, has demonstrated safety and efficacy in preventing familial Mediterranean fever (FMF) attacks among individuals with colchicine-resistant (crFMF). The manufacturer orders prescribe monthly subcutaneous injections. However, a subset of our patients is treated with an "canakinumab on demand " (COD) strategy, with wider intervals between drug administrations.

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Background: Pilonidal sinus disease (PSD) is a common surgical disease. Multiple surgical methods exist in the literature, without clear consensus regarding which should be the first-line treatment. Minimally invasive methods such as the Gips procedure are gaining popularity in recent years.

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Adolescent obesity has markedly increased worldwide, and metabolic bariatric surgery is an effective treatment option. A major predictor of the outcomes of this procedure is adherence to post-surgery lifestyle changes and medical recommendations. While adolescents generally have more difficulty adhering to medical advice than adults, their failure to do so could adversely affect their physical and psychological health, the cost-effectiveness of medical care, and the results of clinical trials.

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Article Synopsis
  • POT1 is an important gene involved in protecting and regulating the length of telomeres, and mutations in this gene can increase cancer risk, particularly for melanoma and chronic lymphocytic leukemia (CLL).
  • A specific mutation, p.(I78T), has been identified as a common pathogenic variant among Ashkenazi Jews, linked to a range of cancers and recurrent melanoma in individuals aged 25 to 67.
  • Research suggests that this variant should be included in genetic testing for high-risk patients of Ashkenazi Jewish descent due to its association with early-onset severe cancers.
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Urinary tract infections (UTIs) in childhood are common and are associated with considerable acute morbidity and long-term complications. The need for updated data to optimize empiric antibiotic therapy is crucial. We aimed to investigate the pathogens causing pediatric community acquired UTIs, their correlation with demographic characteristics, and trends in their antimicrobial resistance.

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Article Synopsis
  • Bardet-Biedl syndrome (BBS) is a genetic condition that leads to retinal degeneration along with issues like obesity, intellectual disability, and kidney disease, but can also present milder symptoms in some patients.
  • A case study of an Israeli patient with a mild form of retinal disease showed additional issues like epilepsy and dental problems, linking them to a specific genetic variant in a gene that's critical for vision.
  • The study suggests that this genetic variant may cause a less severe form of BBS, indicating that genetic testing for this variant should be considered not just for BBS patients, but also for those with milder retinal diseases.
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Autoimmune encephalitis in Israeli children - A retrospective nationwide study.

Eur J Paediatr Neurol

May 2024

The Neuro-immunological Clinic, The Neurological Institute, Schneider Children's Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Immune-mediated or autoimmune encephalitis (AE) is a relatively new, rare and elusive form of encephalitis in children. We retrospectively collected seropositive children (0-18 years old) with well characterized antibodies through 3 reference laboratories in Israel. Clinical symptoms, MRI and EEG findings and treatment courses were described.

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Article Synopsis
  • There is a need for evidence-based treatment guidelines for vitiligo specifically tailored for pediatric, adolescent, and young adult patients in the US.
  • A literature review involving consensus-building among experts led to the formation of 42 recommendations regarding the diagnosis and treatment of vitiligo in young patients.
  • Key findings included strong recommendations for treatments such as topical calcineurin inhibitors and topical corticosteroids, with specific guidance on duration and patient age considerations for effective management.
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Objectives: To investigate the role of gut microbiota (GM) in pathogenesis of idiopathic short stature (ISS) by comparing GM of ISS children to their normal-height siblings.

Methods: This case-control study, conducted at the Schneider Children's Medical Center's Institute for Endocrinology and Diabetes between 4/2018-11/2020, involved 30 pairs of healthy pre-pubertal siblings aged 3-10 years, each comprising one sibling with ISS and one with normal height. Outcome measures from fecal analysis of both siblings included GM composition analyzed by 16S rRNA sequencing, fecal metabolomics, and monitoring the growth of germ-free (GF) mice after fecal transplantation.

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Editorial: From the Identified Patient to Precision Medicine.

J Am Acad Child Adolesc Psychiatry

June 2024

Feinberg Child Study Center, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel. Electronic address:

The article by Lock et al. in this month's issue of the Journal highlights 3 features that are of interest to child and adolescent psychiatrists. First, it provides further evidence for an effective therapy for an extremely debilitating condition, with additional means for improving prognosis.

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The lack of a consensus of accepted prognostic factors in hypothermia suggests an additional factor has been overlooked. Delayed rewarming thrombocytopenia (DRT) is a novel candidate for such a role. At body temperature, platelets undergoing a first stage of aggregation are capable of progression to a second irreversible stage of aggregation.

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Diabetes Technologies and the Human Factor.

Diabetes Technol Ther

March 2024

Faculty of Health and Social Sciences, Bournemouth University, Bournemouth, United Kingdom.

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Diabetes Technology and Therapy in the Pediatric Age Group.

Diabetes Technol Ther

March 2024

Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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Using Digital Health Technology to Prevent and Treat Diabetes.

Diabetes Technol Ther

March 2024

Jesse Z. and Sara Lea Shaffer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Am J Hum Genet

March 2024

Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium. Electronic address:

Article Synopsis
  • Neurodevelopmental disorders (NDDs) stem from brain development issues, and research identifies loss-of-function (LoF) variations in the ZFHX3 gene as a cause of syndromic intellectual disability (ID).
  • A study of 42 individuals shows that variants in ZFHX3 lead to diverse symptoms like intellectual disability, autism spectrum disorder, distinct facial features, and developmental delays.
  • ZFHX3 plays a vital role in brain development, influences gene expression related to the nervous system, and has specific DNA methylation patterns linked to its function.
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