13 results match your criteria: "The Galilee Medical Center[Affiliation]"

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

J Inherit Metab Dis

January 2025

National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel.

Article Synopsis
  • * Out of 412 newborns flagged positive for IVA in a large screening in Israel, 371 were false positives, and only 38 confirmedIVA—with 32% being symptomatic and 68% asymptomatic, many of whom have a specific mild variant.
  • * The study introduced a new screening algorithm that better distinguishes between symptomatic and asymptomatic cases, aiming to reduce unnecessary treatment and focus on those at higher risk for severe outcomes.
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Placental and serum levels of human α-Klotho in preeclampsia & intra-uterine growth retardation: A potential sensitive biomarker?

Pregnancy Hypertens

June 2024

Azrieli Faculty of Medicine, Safed, Bar Ilan University, Ramat-Gan, Israel; Cardiovascular Laboratory, Medical Research Institute, The Galilee Medical Center, Nahariya, Israel. Electronic address:

Introduction: α-Klotho protein has three isoforms: a transmembrane (mKL), a shed- soluble isoform, and a circulating soluble isoform (sKL). mKL is expressed in the kidney and placenta, while sKL is detectable in blood and urine. It is known that α-Klotho levels fluctuate during pregnancy mainly in women with complications such as preeclampsia (PE) and intra-uterine growth restriction (IUGR).

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Introduction: Cardiovascular diseases are the main cause of mortality in the world. Their most common expression is ischemic heart disease (IHD) such as myocardial infarction (MI). Physical rehabilitation is a common practice for IHD patients.

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Several studies showed ethnic disparities in multiple myeloma (MM) incidence and prognosis. In order to compare prognosis and overall survival between different ethnic groups, a multicenter retrospective study was conducted in Northern Israel. A total of 145 patients suffering from MM were included (72% Jewish, and 28% Arabs) who were treated between 2008-2018.

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

J Inherit Metab Dis

May 2021

National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat Gan, Israel.

Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum. Early diagnosis and initiation of treatment based on a newborn screening (NBS) test for OTCD with high specificity and sensitivity may contribute to reduction of the significant complications and high mortality. The efficacy of incorporating orotic acid determination into routine NBS was evaluated.

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E3 ubiquitin ligases (E3s) play essential roles in the maintenance of tissue homeostasis under normal and stress conditions, as well as in disease states, particularly in cancer. However, the role of E3s in the initiation of human tumors is poorly understood. Previously, we reported that genetic ablation of the HECT-type E3 ubiquitin ligase Smurf2 induces carcinogenesis in mice; but whether and how these findings are pertinent to the inception of human cancer remain unknown.

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SMURF2, an E3 ubiquitin ligase and suggested tumor suppressor, operates in normal cells to prevent genomic instability and carcinogenesis. However, the mechanisms underlying SMURF2 inactivation in human malignancies remain elusive, as is rarely found mutated or deleted in cancers. We hypothesized that SMURF2 might have a distinct molecular biodistribution in cancer versus normal cells and tissues.

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Introduction: The occurrence of gingival recessions (GRs) is multifactorial, mainly due to trauma induced by traumatic toothbrushing, orthodontic tooth movement, as well as anatomical factors such as bone dehiscence, teeth malposition, and muscle pull. Fat tissue in the oral cavity is widely available and easily accessed. The use of pedicled buccal fat pad (BFP) graft is well known in maxillofacial surgery and has been shown promising results, becoming safe and effective graft for several clinical applications.

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A-lamins, encoded by the LMNA gene, are major structural components of the nuclear lamina coordinating essential cellular processes. Mutations in the LMNA gene and/or alterations in its expression levels have been linked to a distinct subset of human disorders, collectively known as laminopathies, and to cancer. Mechanisms regulating A-lamins are mostly obscure.

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Solitary fibrous tumours are a rare group of tumours that originate from connective tissues such as the pleura and mediastinum. When growing within the thoracic cavity these tumours exert pressure on vital organs and large vessels. We have successfully operated on two patients with large solitary fibrous tumours and managed the pathophysiological changes manifested as superior vena cava syndrome resulting from these tumours.

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Smurf2-Mediated Stabilization of DNA Topoisomerase IIα Controls Genomic Integrity.

Cancer Res

August 2017

Laboratory of Molecular and Cellular Cancer Biology, Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.

DNA topoisomerase IIα (Topo IIα) ensures genomic integrity and unaltered chromosome inheritance and serves as a major target of several anticancer drugs. Topo IIα function is well understood, but how its expression is regulated remains unclear. Here, we identify the E3 ubiquitin ligase Smurf2 as a physiologic regulator of Topo IIα levels.

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Aims: To find the correlation between plasma D-dimer levels after stroke with different etiologies, severity of the stroke and to uncover whether plasma D-dimer levels may be used as a prognostic factor of stroke complication.

Background: D-dimer is a product of fibrin degradation and it is elevated in systemic vascular events. The association between plasma D-dimer levels and stroke remain uncertain.

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Whole exome sequencing (WES) is a powerful technique for identifying sequence changes in the human genome. The goal of this study was to delineate the genetic defects in patients with inherited retinal diseases (IRDs) using WES. WES was performed on 90 patient DNA samples from 68 families and 226 known genes for IRDs were analyzed.

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