Photobiomodulation Treatment for Second-Degree Burn Treatment-A Double-Blinded Controlled Pilot Trial.

Photobiomodulation (PBM) is a technology that has gained much attention in recent years regarding its potential application for stimulating wound healing, alleviating pain, reducing inflammation, and aiding in the restoration of function. Due to a scarcity of evidence in the literature regarding PBM for the treatment of burns, our objective of this study was to test whether treatment with PBM in hospitalized patients with second-degree burns accelerated recovery. A double-blind controlled study was conducted on nine patients with up to 15% second-degree burns who were hospitalized at Hadassah-Hebrew University Medical Center, Ein Kerem Campus, Jerusalem Israel, between July 2022 and November 2022.

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.

Objective: To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies-Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES).

Design: Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center.

Results: ADV was diagnosed in 33 fetuses.

Postintravitreal Injection Endophthalmitis: Incidence, Characteristics, Management, and Outcome.

Purpose: Postintravitreal injection (IVI) endophthalmitis is a rare but devastating complication. Herein, we report the incidence ,and clinical and microbiological characteristics, as well as the visual outcome, in IVIs endophthalmitis in two medical centers.

Methods: All patients undergoing intravitreal injections between 1/2018 and 12/2019 in two large medical centers were analyzed for post-IVI endophthalmitis.

Surfboard Related Orbital and Periocular Injury.

Purpose: The objective of this study is to present the complexity of surfboard related orbital and periocular injuries and to discuss the different prevention aspects of such injuries.

Methods: A retrospective review was performed on surfing related orbital and periocular injuries cases in a single tertiary medical center over a period of 10 years.

Results: Six patients at a mean age of 34 (range 20-50) years were evaluated.

Short-term outcomes of mitomycin C-augmented excisional bleb revision with capsulectomy for failed Ahmed glaucoma valve.

Aim: To report short-term outcomes of mitomycin C-augmented excisional bleb revision with capsulectomy (ERC) after Ahmed glaucoma valve (AGV) failure.

Methods: Patients who underwent ERC procedures between January 2017 and December 2019 with a minimum follow-up of 6mo were evaluated retrospectively for indications of AGV and AGV implantation to ERC interval. The number of anti-glaucoma medications (AGMs), intraocular pressure (IOP) and best corrected visual acuity (BCVA) were recorded at baseline, 1, 7, 30, 90, and 180d.

Qualification of non-pediatric ophthalmologists in examining children.

Background: This study is aimed to evaluate the clinical approach of non-pediatric ophthalmologists, working in community-based clinics towards Pediatric Patients and their management including referral rates to Pediatric Ophthalmologists and Orthoptists.

Methods: an online survey was sent to all community ophthalmologists through national society and social media platforms. The questionnaire included questions regarding the responders' professional experience as well as regarding the responders' approach to children younger than 8 years, and the level of confidence in 4 main aspects of children's management and referral rates.

Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.

Preconception carrier screening allows identification of couples at risk to have offspring with autosomal recessive and X-linked disorders. In a current multiethnic world, screening based on self-reported ancestry has limitations. Here we describe the findings of a comprehensive pan-ethnic variant-based carrier screening, using the Israeli Jewish population as a model.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for presumed autosomal recessive cases. Common synonymous variants are often disregarded.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a wide range of deafness-associated variants and enabling clinical characterization of the associated phenotypes. Our goal was to identify the genetic causes of inherited hearing loss in this population, and to determine relationships among genotype, phenotype, and ethnicity.

The Hormone KL1: A Regulator of Breast Cancer Cell Metabolism.

Background: Klotho is a transmembrane protein that can be shed and can act as a circulating hormone in three forms: soluble klotho (KL1 + KL2), KL1, and KL2. Klotho was discovered as a gene implicated in aging through inhibition of the IGF-I pathway. Our laboratory discovered the role of klotho as a tumor suppressor in breast cancer and other malignancies.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. Children from 12 unrelated families presented with microcephaly, simplified gyral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/postnatal demise. Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding for the neutral sphingomyelinase-3 (nSMase-3/SMPD4).

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Purpose: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

Introduction: Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions.

Methods: Exome enrichment was achieved by Nextera Rapid Capture Expanded Exome Kit.

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.

The term isolated ectopia lentis (EL; subluxation or dislocation of the human crystalline lens) is applied to patients with EL, without skeletal features and in the absence of aortic root dilatation. To date, the only gene shown to cause autosomal-recessive isolated EL is ADAMTSL4. Here we report a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral EL.

Nonvisualization of the Fetal Gallbladder: Can Levels of Gamma-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis?

Objective: In cases of nonvisualization of the fetal gallbladder (NVFGB), we investigated whether amniotic fluid levels of gamma-Glutamyl transpeptidase (GGTP) can distinguish normal development or benign gallbladder agenesis from severe anomaly such as biliary atresia.

Methods: This is a retrospective cohort study of pregnancies in which the gallbladder was not visualized in the second-trimester fetal anatomy scan. Levels of GGTP in amniotic fluid were analyzed prior to 22 weeks of gestation by amniocentesis.

Founder mutation for Huntington disease in Caucasus Jews.

Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide CAG repeat within the gene. The prevalence of HD is known for Europeans but has not been studied in the Israeli population.

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.

Dramatic progress has been made in our understanding of the highly heterogeneous molecular bases of sensorineural hearing loss (SNHL), demonstrating the involvement of all known forms of inheritance and a plethora of genes tangled in various molecular pathways. This progress permits the provision of prognostic information and genetic counseling for affected families, which might, nevertheless, be exceedingly challenging. Here, we describe an intricate genetic investigation that included Sanger-type sequencing, BeadArray technology, and next-generation sequencing to resolve a complex case involving one family presenting syndromic and nonsyndromic SNHL phenotypes in two consecutive generations.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Hereditary hearing loss is genetically heterogeneous, with a large number of genes and mutations contributing to this sensory, often monogenic, disease. This number, as well as large size, precludes comprehensive genetic diagnosis of all known deafness genes. A combination of targeted genomic capture and massively parallel sequencing (MPS), also referred to as next-generation sequencing, was applied to determine the deafness-causing genes in hearing-impaired individuals from Israeli Jewish and Palestinian Arab families.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Background: Identification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted DNA capture and massively parallel sequencing are ideal tools to address this challenge. Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity.

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Nonsyndromic mental retardation (NSMR) is the diagnosis of exclusion in mentally retarded individuals without additional abnormalities. We have recently identified a protein-truncating mutation, G408fsX437, in the gene CC2D1A on chromosome 19p13.12 in nine consanguineous Israeli Arab families with severe autosomal recessive NSMR, and have developed a comprehensive prevention program among the at-risk population in the village.

The virtue of multiculturalism: personal transformation, character, and openness to the other.

The social, intellectual, and moral movement known as multiculturalism has been enormously influential in psychology. Its ability to reshape psychology has been due to its ethical force, which derives from the attractiveness of its aims of inclusion, social justice, and mutual respect. The cultivation of cultural competence, presented as a developmental process of acquiring self-awareness, cultural knowledge, and skills, is an important emphasis in the multicultural literature.

Amniotic trisomy 11 mosaicism--is it a benign finding?

Objectives: A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed.

Methods: Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cells. Karyotype studies and fluorescence in situ hybridization analysis using the 11q13LS1 CCND1 probe were performed.

Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000.

The possibility that environmental effects are associated with chromosome aberrations and various congenital pathologies has been discussed previously. Recent advances in the collection and computerization of data make studying these potential associations more feasible. The aim of this study was to investigate a possible link between the number of Down syndrome (DS) cases detected prenatally or at birth yearly in Israel over a 10-year period compared with the levels of solar and cosmic ray activity 1 year before the detection or birth of each affected child.