The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal Microarray.

This retrospective cohort study aimed to define the optimal Regions of Homozygosity (ROH) size cut-offs for prediction of morbidity, based on 13 483 Chromosomal Microarray Analyses (CMA). Receiver operating characteristic (ROC) curves were generated, and area under the curve (AUC) was used to assess the predictive capability of total ROH percentage (TRPS), ROH number and ROH segment size in distinguishing between healthy (n=6,196) and affected (n=6,839) cohorts. The metrics were examined for telomeric and interstitial segments, distinct TRPS categories, and across different ancestral origins.

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

This study investigates distal 2q13 microdeletion, presenting the largest cohort to date, including prenatal cases, alongside a comprehensive literature review. A retrospective analysis was conducted on distal 2q13 microdeletions from clinical charts and laboratory reports. The cohort was divided into "clinically indicated" and "not-clinically indicated" groups based on the reason for chromosomal microarray testing.

Advances in Endoscopic Bariatric and Metabolic Therapies.

This article presents an overview of endoscopic bariatric and metabolic therapies (EBMTs) as emerging minimally invasive interventions for obesity and its related comorbidities. It explores various gastric and small-bowel endoscopic procedures, including their mechanisms, clinical outcomes, and safety profiles.

Association of Salivary Vitamin D and Vitamin C Levels with Dental Caries in Children: A Cross-sectional Study.

Aim: Dental caries is a prevalent chronic disease affecting children worldwide. This study aimed to investigate the association between dental caries and salivary levels of vitamin D and vitamin C in children.

Materials And Methods: This cross-sectional research was conducted at RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras Al Khaimah, United Arab Emirates, in children between the ages of 4 and 12 years, with a sample of 60 children divided into study and control groups based on the presence or absence of dental caries.

Collagen I Increases Palmitate-Induced Lipotoxicity in HepG2 Cells via Integrin-Mediated Death.

Various strategies have been employed to improve the reliability of 2D, 3D, and co-culture in vitro models of nonalcoholic fatty liver disease, including using extracellular matrix proteins such as collagen I to promote cell adhesion. While studies have demonstrated the significant benefits of culturing cells on collagen I, its effects on the HepG2 cell line after exposure to palmitate (PA) have not been investigated. Therefore, this study aimed to assess the effects of PA-induced lipotoxicity in HepG2 cultured in the absence or presence of collagen I.

Environmental surveillance of a circulating vaccine-derived poliovirus type 2 outbreak in Israel between 2022 and 2023: a genomic epidemiology study.

Background: Similarly to wild poliovirus, vaccine-derived poliovirus (VDPV) strains can cause acute flaccid paralysis, posing a considerable challenge to public health and the eradication of poliovirus. VDPV outbreaks, particularly VDPV type 2 (VDPV2), are increasing worldwide, including in high-income countries with high vaccine coverage. We aimed to conduct a comprehensive analysis of the molecular epidemiology of a widespread VDPV2 outbreak in Israel in 2022-23 using conventional polio identification techniques and whole-genome sequencing.

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort.

Regions of Homozygosity (ROH) typically reflect normal demographic history of a human population, but may also relate to cryptic consanguinity, and, additionally, have been associated with specific medical conditions. The objective of this study was to investigate the location, size, and prevalence of common ROH segments in a Middle Eastern cohort. This retrospective study included 13 483 samples collected from all Chromosomal Microarray analyses (CMA) performed using Single Nucleotide Polymorphism (SNP) arrays at the genetic clinical laboratory of Rabin Medical Center between 2017-2023 (primary data set).

Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds.

Long contiguous stretches of homozygosity or regions of homozygosity (ROH) are frequently detected via microarray and sequencing technologies. However, consensus on the establishment of specific size cutoffs for reporting ROH remains elusive. This study aims to assess the Total ROH Percentages (TRPS) and size of ROH segments across different ethnic origins, exploring potential disparities and proposing tailored diagnostic thresholds.

Practical approach to linear endoscopic ultrasound examination of the gallbladder.

The gallbladder (GB) is a susceptible organ, prone to various pathologies that can be identified using different imaging techniques. Transabdominal ultrasound (TUS) is typically the initial diagnostic method due to its numerous well-established advantages. However, in cases of uncertainty or when a definitive diagnosis cannot be established, computed tomography (CT) or magnetic resonance imaging may be employed to provide more detailed information.

Neuroprotective Effects of Zinc Oxide Nanoparticles in a Rotenone-Induced Mouse Model of Parkinson's Disease.

This work aimed to evaluate the neuroprotective effects of zinc oxide (ZnO) nanoparticles in an experimental mouse model of rotenone-induced PD and investigate the therapeutic effects of ZnO, cobalt ferrite nanoparticles, and their combination. The levels of dopamine, norepinephrine, epinephrine, and serotonin were assessed using ELISA in the control and experimental model of PD mice. The dopa-decarboxylase expression level was assayed by real-time PCR.

Incursion of SARS-CoV-2 BA.2.86.1 variant into Israel: National-scale wastewater surveillance using a novel quantitative real-time PCR assay.

The emergence of the SARS-CoV-2 variant BA.2.86.

The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities.

Objective:  This study aimed to determine the diagnostic yield of chromosomal microarray analysis (CMA) performed in cases of fetal abnormalities detected during the third trimester of pregnancy.

Study Design:  A retrospective review of medical records was conducted for women who underwent amniocentesis at or beyond 28 weeks of gestation between January 2017 and February 2023. CMA results of pregnancies with abnormal sonographic findings not detected before 28 weeks were included.

Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.

Objective: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularly challenging for maternally inherited SNVs. We present an improved method to predict inherited SNVs from maternal or paternal origin in a genome-wide manner.

Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

Introduction: Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly.

Materials And Methods: CMA Testing: We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory.

The new face of cystic fibrosis in the era of population genetic carrier screening.

Background: Population genetic carrier screening (PGCS) for cystic fibrosis (CF) has been offered to couples in Israel since 1999 and was included in a fully subsidized national program in 2008. We evaluated the impact of PGCS on CF incidence, genetic and clinical features.

Methods: This was a retrospective national study.

Acute kidney injury in infants with hypoxic-ischemic encephalopathy.

Background: This study aimed to investigate the prevalence of acute kidney injury (AKI) in infants with varying degrees of hypoxic-ischemic encephalopathy (HIE) and its associated outcomes, including mortality and length of stay (LOS).

Methods: The study used the National Inpatient Sample (NIS) dataset from 2010 to 2018. Regression analysis was used to control confounding variables.

Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies.

Background: The rate of clinically significant copy number variants in chromosomal microarray analysis in low-risk pregnancies is approximately 1%. However, these results include copy number variants with low and variable penetrance, although some patients might be interested only in the detection of high-penetrant variants.

Objective: This study aimed to calculate the prevalence of high-penetrant copy number variants in a large cohort of low-risk pregnancies.

Single vs Bilateral Lung Transplant in the Management of Patients With Chronic Obstructive Pulmonary Disease: A Systematic Review and Meta-Analysis.

Background: Lung transplantation is recommended for select patients with end-stage chronic obstructive pulmonary disease (COPD). However, a consensus has not been reached regarding the optimal choice of lung transplantation: single lung transplants (SLTs) vs bilateral lung transplants (BLTs). This meta-analysis aimed to evaluate the safety and efficacy of SLT compared with BLT in managing end-stage COPD.

The Effects of Deep Brain Stimulation on Mood and Quality of Life in Parkinson's Disease: A Systematic Review and Meta-Analysis.

Deep brain stimulation (DBS) is extensively used to treat motor and non-motor symptoms in Parkinson's disease (PD). The aim of this study was to investigate the difference between subthalamic (STN) and globus pallidus internus (GPi) DBS on mood and quality of life with reference to minimal clinically important differences (MCID). A systematic literature search for articles published until November 2022 yielded 14 studies meeting the eligibility criteria, with a total of 1,088 patients undergoing STN (n=571) or GPi (n=517) stimulation.