Recent Publications

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.

The initial diagnostic test required to evaluate esophageal dysphagia is upper endoscopy (EGD) to assess the structure of the esophagus and the esophageo-gastric junction (EGJ). Taking biopsies during EGD has become a common practice in patients with dysphagia to rule out eosinophilic esophagitis (EoE). The aims of this study were to evaluate the endoscopic findings of patients who underwent EGD for esophageal dysphagia, to assess the rate of biopsy taking from the esophagus to diagnose/exclude EoE, and to report histology outcomes of these biopsies.

In day-to-day life, we often choose between pursuing familiar behaviors that have been rewarded in the past or adjusting behaviors when new strategies might be more fruitful. The dorsomedial striatum (DMS) is indispensable for flexibly arbitrating between old and new behavioral strategies. The way in which DMS neurons host stable connections necessary for sustained flexibility is still being defined. An entry point to addressing this question may be the structural scaffolds on DMS neurons that house synaptic connections. We find that the non-receptor tyrosine kinase Proline-rich tyrosine kinase 2 (Pyk2) stabilizes both dendrites and spines on striatal medium spiny neurons, such that Pyk2 loss causes dendrite arbor and spine loss.

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)

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.

Comment

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.

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.

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. 

Editorial

Hyperuricemia can cause renal damage and acute kidney injury or be secondary to renal failure and reduced excretion. Rasburicase, a recombinant urate oxidase, is a common treatment for hyperuricemia from different etiologies. There are scarce reports on rasburicase treatment for neonatal Acute Kidney Injury (AKI) with hyperuricemia to prevent renal damage secondary to hyperuricemia. Herein we report a case of neonatal AKI with hyperuricemia that was treated with a single dose of rasburicase. 

Fibromyalgia syndrome (FMS) is a chronic disorder characterized by widespread musculoskeletal pain accompanied by various additional symptoms. The prevalence of FMS ranges between 2-8% of the population. The exact pathophysiology of the disease remains unknown, and under certain circumstances it is difficult for the physician to diagnose. Previous studies have shown a correlation between inflammatory biomarkers such as C-reactive protein (CRP) and FMS activity, suggesting that an inflammatory component may play a role in this disease pathogenesis. Investigates the role of certain new inflammatory biomarkers in the diagnosis of patients with FMS.

The increased susceptibility of cancer patients to coronavirus disease-2019 (COVID-19) infections and complications calls for special precautions while treating cancer patients during COVID-19 pandemics. Thus, oncology departments have had to implement a wide array of prevention measures. This study addresses issues associated with cancer care during the COVID-19 pandemic and to assess the implementation of measures aimed at containment of COVID-19 diffusion while allowing continuation of quality cancer care.

The study introduces a path model that links between paternal feelings and child's anxiety symptoms, aiming to test the mediational role of father-child insecure attachment and the child's difficulties in emotional regulation in the occurrence of anxiety disorders among a sample of 148 fathers and their children (65 boys and 83 girls aged 8-18) attending the child psychiatric center of a public hospital.

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.