Severe neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.

The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.

Characterization of community-acquired strains in Israel, 2020-2022.

Background: The prevalence of community-acquired infection (CA-CDI) has been rising, due to changes in antibiotics prescribing practices, emergence of hypervirulent strains and improved diagnostics. This study explored CA-CDI epidemiology by examining strain diversity and virulence factors of CA-CDI isolates collected across several geographical regions in Israel.

Methods: Stool samples of 126 CA-CDI patients were subjected to PCR and an immunoassay to identify toxin genes and proteins, respectively.

Acute otitis media in the first two months of life and the impact of pneumococcal conjugate vaccines: A retrospective cohort study.

Background: Information on pneumococcal vaccination's impact on the prevention of acute otitis media (AOM) at very young ages is limited.

Objectives: To define the trends in tympanocentesis-proven AOM incidence, clinical characteristics, microbiology, and antibiotic resistance in infants <2 months of age in southern Israel, before and after the sequential introduction of 7- and 13-valent PCVs.

Methods: A retrospective population-based cohort study including children <2 months of age diagnosed with AOM at the pediatric emergency room between January 2005-Decmber 2009 (pre-vaccination group, group 1) and January 2013-July 2021 (post-PCV13 introduction, group 2).

A transcriptomics approach to expand therapeutic options and optimize clinical trials in oncology.

Background: The current model of clinical drug development in oncology displays major limitations due to a high attrition rate in patient enrollment in early phase trials and a high failure rate of drugs in phase III studies.

Objective: Integrating transcriptomics for selection of patients has the potential to achieve enhanced speed and efficacy of precision oncology trials for any targeted therapies or immunotherapies.

Methods: Relative gene expression level in the metastasis and normal organ-matched tissues from the WINTHER database was used to estimate the potential clinical benefit of specific treatments in a variety of metastatic solid tumors.

Comorbidity between lung cancer and COVID-19 pneumonia: role of immunoregulatory gene transcripts in high -expressing normal lung.

Background: SARS-CoV-2 (COVID-19) elicits a T-cell antigen-mediated immune response of variable efficacy. To understand this variability, we explored transcriptomic expression of angiotensin-converting enzyme 2 (, the SARS-CoV-2 receptor) and of immunoregulatory genes in normal lung tissues from patients with non-small cell lung cancer (NSCLC).

Methods: This study used the transcriptomic and the clinical data for NSCLC patients generated during the CHEMORES study [ = 123 primary resected (early-stage) NSCLC] and the WINTHER clinical trial ( = 32 metastatic NSCLC).

Human blastocyst spontaneous collapse is associated with worse morphological quality and higher degeneration and aneuploidy rates: a comprehensive analysis standardized through artificial intelligence.

Study Question: What are the factors associated with human blastocyst spontaneous collapse and the consequences of this event?

Summary Answer: Approximately 50% of blastocysts collapsed, especially when non-viable, morphologically poor and/or aneuploid.

What Is Known Already: Time-lapse microscopy (TLM) is a powerful tool to observe preimplantation development dynamics. Lately, artificial intelligence (AI) has been harnessed to automate and standardize such observations.

Anxiety in Patients with Neovascular Age-related Macular Degeneration.

Purpose: The main objective of the study is to investigate the prevalence of anxiety in patients with neovascular age-related macular degeneration (nAMD).

Methods: A retrospective cross-sectional study of 3 304 nAMD patients and 16 515 age- and gender-matched controls. The proportions of patients with anxiety were compared between the groups using univariate analyses and a multivariate logistic regression model.

Unusual presentation of aggressive high-grade B-cell lymphoma of colonic origin: A case report and review of the literature.

Colonic lymphoma is a rare disease. The presented case is unique, being manifested with abrupt onset, including circulatory shock and lactic acidosis as the initial presentation.

Fractional exhaled Nitric Oxide (FeNO) level as a predictor of COVID-19 disease severity.

Objective: To assess the feasibility of Fractional exhaled Nitric Oxide (FeNO) as a simple, non-invasive, cost-effective and portable biomarker and decision support tool for risk stratification of COVID-19 patients.

Methods: We conducted a single-center prospective cohort study of COVID-19 patients whose FeNO levels were measured upon ward admission by the Vivatmo-me handheld device. Demographics, COVID-19 symptoms, and relevant hospitalization details were retrieved from the hospital databases.

How slow is too slow? A comprehensive portrait of Day 7 blastocysts and their clinical value standardized through artificial intelligence.

Study Question: What is the clinical value of Day 7 blastocysts?

Summary Answer: Ending embryo culture at 144 hours post-insemination (h.p.i.

Pseudo contrastive labeling for predicting IVF embryo developmental potential.

In vitro fertilization is typically associated with high failure rates per transfer, leading to an acute need for the identification of embryos with high developmental potential. Current methods are tailored to specific times after fertilization, often require expert inspection, and have low predictive power. Automatic methods are challenged by ambiguous labels, clinical heterogeneity, and the inability to utilize multiple developmental points.

DIC in Pregnancy - Pathophysiology, Clinical Characteristics, Diagnostic Scores, and Treatments.

Obstetrical hemorrhage and especially DIC (disseminated intravascular coagulation) is a leading cause for maternal mortality across the globe, often secondary to underlying maternal and/or fetal complications including placental abruption, amniotic fluid embolism, HELLP syndrome (hemolysis, elevated liver enzymes and low platelets), retained stillbirth and acute fatty liver of pregnancy. Various obstetrical disorders can present with DIC as a complication; thus, increased awareness is key to diagnosing the condition. DIC patients can present to clinicians who may not be experienced in a variety of aspects of thrombosis and hemostasis.

Cell stiffness predicts cancer cell sensitivity to ultrasound as a selective superficial cancer therapy.

We hypothesize that the biomechanical properties of cells can predict their viability, with Young's modulus representing the former and cell sensitivity to ultrasound representing the latter. Using atomic force microscopy, we show that the Young's modulus stiffness measure is significantly lower for superficial cancer cells (squamous cell carcinomas and melanoma) compared with noncancerous keratinocyte cells. In vitro findings reveal a significant difference between cancerous and noncancerous cell viability at the four ultrasound energy levels evaluated, with different cell lines exhibiting different sensitivities to the same ultrasound intensity.

The Association between Ovarian Hyperstimulation Syndrome and Pregnancy Complications following Fertility Treatments.

Objective: This study was aimed to assess the association between ovarian hyperstimulation syndrome (OHSS) and pregnancy complications among women who conceived following fertility treatment.

Study Design: A retrospective population-based cohort study, including all singleton deliveries of patients conceived following ovulation induction (OI) or in vitro fertilization (IVF) between 1988 and 2016, was conducted. All births occurred in a single tertiary medical center.

Predictors and outcomes of acute kidney injury during autologous stem cell transplantation in AL amyloidosis.

Background: Acute kidney injury (AKI) is a common complication after high-dose melphalan and autologous stem cell transplantation (HDM/SCT) in patients with light chain (AL) amyloidosis. However, its incidence, predictors and outcomes are not well known.

Methods: This observational study included 223 patients with AL amyloidosis who underwent HDM/SCT.

Health Service Utilization Patterns Among Adults With Congenital Heart Disease: A Population-Based Study.

Background Several studies have examined hospitalizations among patients with adult congenital heart disease (ACHD). Few investigated other services or utilization patterns. Our aim was to study service utilization patterns and predictors among patients with ACHD.

A new implantable tool for repeated assessment of supraventricular electrophysiology and atrial fibrillation susceptibility in freely moving rats.

The complex pathophysiology of atrial fibrillation (AF) is governed by multiple risk factors in ways that are still elusive. Basic electrophysiological properties, including atrial effective refractory period (AERP) and conduction velocity, are major factors determining the susceptibility of the atrial myocardium to AF. Although there is a great need for affordable animal models in this field of research, in vivo rodent studies are limited by technical challenges.

Randomized, placebo-controlled, phase 3 study of perifosine combined with bortezomib and dexamethasone in patients with relapsed, refractory multiple myeloma previously treated with bortezomib.

Perifosine, an investigational, oral, synthetic alkylphospholipid, inhibits signal transduction pathways of relevance in multiple myeloma (MM) including PI3K/Akt. Perifosine demonstrated anti-MM activity in preclinical studies and encouraging early-phase clinical activity in combination with bortezomib. A randomized, double-blind, placebo-controlled phase 3 study was conducted to evaluate addition of perifosine to bortezomib-dexamethasone in MM patients with one to four prior therapies who had relapsed following previous bortezomib-based therapy.

Rapid Atrial Pacing Promotes Atrial Fibrillation Substrate in Unanesthetized Instrumented Rats.

Aim: The self-perpetuating nature of atrial fibrillation (AF) has been a subject of intense research in large mammalian models exposed to rapid atrial pacing (RAP). Recently, rodents are increasingly used to gain insight into the pathophysiology of AF. However, little is known regarding the effects of RAP on the atria of rats and mice.

Assisted reproductive technology and the risk of pediatric cancer: A population based study and a systematic review and meta analysis.

Background: There is controversy whether exposure to assisted reproductive technology (ART) is associated with increased risk of pediatric cancer. We aimed at calculating the overall risk of pediatric cancers after ART in a large cohort of exposed women; and to conduct a systematic review and meta- analysis of cohort studies examining overall risk of pediatric cancers after ART.

Methods: All children born in Israel who were members of Maccabi Health Services (MHS) between 1999 and 2016 after ART, were linked to the Israeli Registry of Childhood Cancer (IGS) to identify those with cancer diagnosed before 16 years of age.