חדשות המחקר
Nour Ibrahim: Venous thromboembolism rates and risk factors following endoscopic skull base surgery (Int Forum Allergy Rhinol .)
Venous thromboembolism (VTE) is a potentially fatal perioperative complication. The objective of this study was to assess the rate and risk factors for VTE in endoscopic skull base surgery (ESBS).
Haneen Jabaly-Habib: Sixth Nerve Palsy in Children Etiology, Long-Term Course, and a Diagnostic Algorithm (J Child Neurol . )
Acute onset strabismus is worrisome for parents and physicians. This condition is sometimes attributed to sixth cranial nerve palsy, which may be secondary to various etiologies. Debate still exists about the appropriate diagnostic approach. The objective of this study was to describe the common etiologies of sixth nerve palsy in our pediatric population and to suggest a clear, implementable diagnostic algorithm.
Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis (Mol Oncol .)
Glioblastoma (GBM) is the most common type of glioma and is uniformly fatal. Currently, tumour heterogeneity and mutation acquisition are major impedances for tailoring personalized therapy. We collected blood and tumour tissue samples from 25 GBM patients, and 25 blood samples from healthy controls....our study suggests that integrated analysis of cfDNA plasma concentration, gene mutations and gene-gene fusions can serve as a diagnostic modality for distinguishing GBM patients who may benefit from targeted therapy.
(Vikrant Palande, Rajesh Detroja, Alessandro Gorohovski, Marcela Viviana Karpuj, Marina Kurtz, Shira Perez, Dorith Raviv Shay, Milana Frenkel-Morgenstern)
Yair Heskiau Shteinberg, Netanel Eisenbach, Maayan Gruber, Ohad Ronen: Impact of Tonsillectomy on the Life Quality of Parents to Children With Obstructive Sleep-Disordered Breathing (Otolaryngol Head Neck Surg .)
Parents of children with any chronic illness may experience increased anxiety and reduced health-related quality of life (QoL). Our objective was to evaluate the change in parental QoL before vs after tonsillectomy. Our hypothesis was that pediatric tonsil surgery with or without adenoidectomy would improve parental QoL.
Haggai Suisa, Jean Francois Soustiel, Yuval Grober: IgG4-related pachymeningitis masquerading as foramen magnum meningioma: illustrative case (J Neurosurg Case Lessons . )
Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated inflammatory condition with potential multiorgan involvement. Common manifestations include autoimmune pancreatitis and retroperitoneal fibrosis. Pathological analysis reveals lymphoplasmacytic infiltrate rich in IgG4-positive cells and characteristic storiform fibrosis. Early treatment with glucocorticoids may prevent progression to poorly responsive fibrotic disease.
Yaakov Maman: Ig Enhancers Increase RNA Polymerase II Stalling at Somatic Hypermutation Target Sequences (J Immunol . )
Somatic hypermutation (SHM) drives the genetic diversity of Ig genes in activated B cells and supports the generation of Abs with increased affinity for Ag. SHM is targeted to Ig genes by their enhancers (diversification activators [DIVACs]), but how the enhancers mediate this activity is unknown. We show using chicken DT40 B cells that highly active DIVACs increase the phosphorylation of RNA polymerase II (Pol II) and Pol II occupancy in the mutating gene with little or no accompanying increase in elongation-competent Pol II or production of full-length transcripts, indicating accumulation of stalled Pol II.
Maayan Gruber: Ventilation-induced epithelial injury drives biological onset of lung trauma in vitro and is mitigated with prophylactic anti-inflammatory therapeutics (Bioeng Transl Med . )
Mortality rates among patients suffering from acute respiratory failure remain perplexingly high despite the maintenance of blood oxygen homeostasis during ventilatory support. The biotrauma hypothesis advocates that mechanical forces from invasive ventilation trigger immunological mediators that spread systemically. Yet, how these forces elicit an immune response remains unclear. Here, a biomimetic in vitro three-dimensional (3D) upper airways model allows to recapitulate lung injury and immune responses induced during invasive mechanical ventilation in neonates.
David Karasik: Bone Phenotyping Approaches in Human, Mice and Zebrafish - Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork") (Front Endocrinol (Lausanne) .)
A synoptic overview of scientific methods applied in bone and associated research fields across species has yet to be published. Experts from the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal Traits translational Network") Working Group 2 present an overview of the routine techniques as well as clinical and research approaches employed to characterize bone phenotypes in humans and selected animal models (mice and zebrafish) of health and disease.
Nadim H Nasser, Nadra G Samra: Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1 (J Endocr Soc . )
Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide....Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only 1 component of APS1 appear.
Eilam Palzur, Doron Edelman, Reem Sakas, Jean Francois Soustiel: Etifoxine Restores Mitochondrial Oxidative Phosphorylation and Improves Cognitive Recovery Following Traumatic Brain Injury (Int J Mol Sci . )
The opening of the mitochondrial permeability transition pore (mPTP) has emerged as a pivotal event following traumatic brain injury (TBI). Evidence showing the impact of the translocator protein (TSPO) over mPTP activity has prompted several studies exploring the effect of TSPO ligands, including etifoxine, on the outcome of traumatic brain injury (TBI). Mitochondrial respiration was assessed by respirometry in isolated rat brain mitochondria (RBM) by measurements of oxidative phosphorylation capacity (OXPHOS).
Amir Mari, Wisam Sbeit, Wisam Abboud, Tawfik Khoury: Achalasia in the Elderly: Diagnostic Approach and a Proposed Treatment Algorithm Based on a Comprehensive Literature Review (J Clin Med . )
Achalasia is not uncommonly diagnosed in elderly patients and its incidence and prevalence are growing in this population. However, a scarcity of studies has assessed the typical pathophysiological and clinical features of the disease as well as the effectiveness and safety of the various therapeutic options in elderly populations.... In the current review we present the current literature on this topic with a focus on the clinical presentation of achalasia in the elderly and manometric features thereof, as well as summarize the effectiveness and safety of the various therapeutic options. Furthermore, we propose a practical management algorithm as a means to guide the treatment of future cases.
Rajesh Detroja, Alessandro Gorohovski, Olawumi Giwa, Gideon Baum, Milana Frenkel-Morgenstern: ChiTaH: a fast and accurate tool for identifying known human chimeric sequences from high-throughput sequencing data (NAR Genom Bioinform . )
Fusion genes or chimeras typically comprise sequences from two different genes. The chimeric RNAs of such joined sequences often serve as cancer drivers. Identifying such driver fusions in a given cancer or complex disease is important for diagnosis and treatment.