Recent Publications

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.

Erratum for Specific Susceptibility to COVID-19 in Adults with Down Syndrome.

The availability of large human datasets for genome-wide association studies (GWAS) and the advancement of sequencing technologies have boosted the identification of genetic variants in complex and rare diseases in the skeletal field. Yet, interpreting results from human association studies remains a challenge. To bridge the gap between genetic association and causality, a systematic functional investigation is necessary.... In this mission statement, we review the current available resources and as a group propose a consensus to facilitate resource sharing using existing and future resources. Such coordination efforts will maximize the acquisition of knowledge from different approaches and thus reduce redundancy and duplication of resources. These measures will help to understand the pathogenesis of osteoporosis and other skeletal diseases towards defining new and more efficient therapeutic targets.

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).

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.

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. 

Letter

Mucous membrane pemphigoid (MMP) is a rare, heterogeneous subepithelial autoimmune bullous disease. The association between its clinical and immunological features is yet to be fully evaluated.

This study characterizes the clinical, immunoserological, and immunopathological characteristics of patients with MMP and to identify site- and autoantigen-specific characteristics.

Posttonsillectomy bleeding is a dreadful complication that may be life-threatening. Preoperative coagulation tests have not been shown to be effective in predicting this complication. The Pediatric Bleeding Questionnaire (PBQ) is a validated and sensitive tool in diagnosing children with abnormal hemostatic functions, and the objective of our study was to assess its utility as a preoperative screening tool for predicting posttonsillectomy bleeding.

The correlation between residual mitral regurgitation (rMR) grade or mitral valve pressure gradient (MVPG), at transcatheter edge-to-edge mitral valve repair (TEEMr) completion and at discharge, is unknown. Furthermore, there is disagreement regarding rMR grade or MVPG from which prognosis diverts. We retrospectively studied 82 patients that underwent TEEMr. We tested the correlation between rMR or MVPG and evaluated their association, with outcomes.

(Doron Sudarsky, Fabio Kusniec, Liza Grosman-Rimon, Ala Lubovich, Wadia Kinany, Evgeni Hazanov, Michael Gelbstein, Edo Y Birati, Shemy Carasso)

There is an unmet need for a reliable biomarker for the differentiation of axial spondyloarthritis (AxSpA) from its mimickers. Serum levels of interleukin-22 (IL-22) have previously been found to be significantly elevated in patients with AxSpA compared with healthy individuals or persons with osteoarthritis.

Suicide is a leading cause of death worldwide, affecting ~800,000 people every year. Fibromyalgia is an extremely prevalent rheumatic disease with a predisposition for comorbid anxiety and depression, which are known risk factors for suicidal behavior. Suicidality and relevant risk factors for suicidal behavior have not been thoroughly studied in patients with fibromyalgia. 

Investigates the risk of suicidal ideation and attempts in patients with fibromyalgia.

Vaccinating children against COVID-19 is critical as a public health strategy in order to reach herd immunity and prevent illness among children and adults. The aim of the study was to identify correlation between willingness to vaccinate children under 12 years old, and vaccination rate for adult population in Canada, the United States, and Israel.

Catheter ablation (CA) for ventricular arrhythmias (VAs) is increasingly utilized in the recent years. We aimed to investigate the nationwide trends in utilization and procedural complications of CA for VAs in patients with mechanical valve (MV) prosthesis.

Protein kinase A (PKA) signaling is essential for numerous processes but the subcellular localization of specific PKA regulatory (R) and catalytic (C) subunits has yet to be explored comprehensively. Additionally, the localization of the Cβ subunit has never been spatially mapped in any tissue even though ∼50% of PKA signaling in neuronal tissues is thought to be mediated by Cβ. Here we used human retina with its highly specialized neurons as a window into PKA signaling in the brain and characterized localization of PKA Cα, Cβ, RIIα, and RIIβ subunits.