Publications by authors named "Sheffer R"

Introduction: Disparities in oral health are related to dental care knowledge, domestic oral hygiene practices and socioeconomic status. This cross-sectional study aimed to compare the oral hygiene and dental care practices of migrant, Arab, and Jewish children residing in Tel Aviv, Israel, and assess the influence of parental dental practices.

Methods: Data were collected from parents of children aged 3 to 6 years.

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() infections and antibiotic resistance are increasing in prevalence while treatment options are limited. Limited data exist regarding resistance in Israel. Our aim was to study the prevalence of resistance in a sexually transmitted infection (STI) clinic in Israel.

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This report describes an unusual surge of West Nile fever in Israel in June 2024, during which 125 cases were diagnosed, compared with 4 cases on average during June in previous years (2014-23). Of the cases, 64 (62.1%) had neuroinvasive disease and 12 (9.

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Between late 2023 and early 2024, two measles outbreaks occurred in Israel, each caused by importation of measles virus strains of respective B3 and D8 genotypes. In this study, we validate transmission pathways uncovered by epidemiological investigations using a rapid molecular approach, based on complete measles virus genomes. The presented findings support this rapid molecular approach in complementing conventional contact tracing and highlight its potential for informing public health interventions.

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In October 2023, the Tel Aviv District was notified of ten cases of measles. The outbreak initiated in a preschool with high vaccination coverage with one dose of MMR vaccine. Serological testing was available for eight patients (six children and two adults).

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Aims: To outline the demographic, clinical, laboratory characteristics, and treatment outcomes of tuberculosis (TB) patients who used substances.

Methods: This retrospective cohort study compared 50 TB patients who used substances with a matched random sample of 100 TB patients who did not use substances between 2007 and 2017. Treatment failure was defined as a sputum smear or culture that tested positive after 5 months of treatment, loss to follow-up, unevaluated patients, or death.

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The Israeli Prison Services implemented a hepatitis C virus (HCV) elimination program in 2020. Inmates considered high risk for HCV were offered serology; HCV-seropositive participants were offered HCV RNA testing. Among participants, 7.

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Our study population consisted of all children and adolescents, with laboratory-confirmed SARS-Co-V-2 infection, hospitalised from February 2020 through February 2022, among residents of the Tel Aviv (TA) District, Israel. There were 491 children and adolescents hospitalised with Sars-CoV-2 infection. Among them, 281 (57%) admitted with coronavirus disease 2019 (COVID-19) as the primary cause of admission (rate of 39 per 100 000).

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Objectives: From May-September 2022, 203 cases of monkeypox (MPX) were reported in the Tel Aviv (TA) District, Israel. We aim to report the first ongoing local transmission of MPX in Israel.

Methods: We analyzed the epidemiologic and clinical features of all cases of MPX notified to the TA District.

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Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy caused by mutations in the red and green cone opsin genes. The aim of this study was to establish the clinical, genetic, and electrophysiological characteristics of a specific form of BCM.

Methods: Patients harboring mutations in the genes underwent a full clinical examination, including ocular examination, color vision, full-field electroretinography, color fundus and autofluorescence photography, and optical coherence tomography.

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Article Synopsis
  • Nuclear deubiquitinase BAP1 is a crucial part of protein complexes that help regulate gene transcription by reversing the ubiquitination of histone 2A, and its loss can lead to cancer.
  • This study identified 11 rare, de novo germline BAP1 variants associated with a unique neurodevelopmental disorder, where most of these variants demonstrated a loss-of-function effect.
  • Functional analyses showed these variants impaired histone modifications, leading to significant changes in chromatin states and contributing to dysregulation of genes essential for development.
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Background: Travelers are recommended to take antimalarial chemoprophylaxis (AMC) when traveling to endemic areas.

Methods: This prospective comparative cohort study included 400 Israeli travelers to malaria-endemic areas, recruited in pre-travel clinics. They were contacted within one month following their return and asked about their actual adherence and the reasons for non-adherence.

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Background: Travelers to tropical areas may be susceptible to illness or injuries. This study aims to assess morbidity among travelers during their travel and compare those who became ill or were injured with those who did not.

Methods: This prospective study included 400 travelers who were counselled by a physician in pre-travel clinics in central Israel between 2017 and 2018.

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Background: Second-grade pupils in Israel have been vaccinated against influenza since the winter of 2016-2017. This study aims to appraise the rate reduction of seasonal influenza vaccine among vaccinated children and their household members, and that of the vaccinated cohort and their household members.

Methods: This retrospective cohort study was performed in winter 2016-2017 in Tel-Aviv District, Israel and compared second-grade pupils who were vaccinated at school, with third-grade pupils- who were not vaccinated at school.

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Purpose: Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A missense variant in was recently reported in one individual with developmental delay/intellectual disability (DD/ID) and dysmorphism.

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Background: Developmental and epileptic encephalopathies (DEEs) represent a group of severe neurological disorders characterised by an onset of refractory seizures during infancy or early childhood accompanied by psychomotor developmental delay or regression. DEEs are genetically heterogeneous with, to date, more than 80 different genetic subtypes including DEE31 caused by heterozygous missense variants in .

Methods: We performed a detailed clinical characterisation of two unrelated patients with DEE and used whole-exome sequencing to identify causative variants in these individuals.

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One of the significant unanswered questions about COVID-19 epidemiology relates to the role of children in transmission. This study uses data on infections within households in order to estimate the susceptibility and infectivity of children compared to those of adults. The data were collected from households in the city of Bnei Brak, Israel, in which all household members were tested for COVID-19 using PCR (637 households, average household size of 5.

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Background: Measles is a vaccine-preventable infectious disease whose outbreaks generally originate from exposure to populations with low vaccination coverage.

Methods: This study compared the rates and morbidity of measles cases in the district of Tel-Aviv during two outbreaks (2012 and 2018-2019) by citizenship and geographic location.

Results: There were 67 pediatric cases reported in 2012 and 222 in 2018-2019.

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During a national measles outbreak in 2018-2019, the Tel Aviv District suffered a major upsurge of cases, with 413 patients reported. Among them, 100 (24%) were <1 year, 92 (22%) patients were aged 12 months to 4 years, 47 (11%) were 5-18 years, 169 (41%) were 19-60 years, and 5 (1%) patients were older than 61 years (born before 1957). Among all cases, 230 (56%) were part of the Ultra-Orthodox Jewish community, 55 (13%) were among undocumented African immigrants.

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Background: Undocumented migration to developed countries poses practical concerns, as migrants are not medically insured. This cross-sectional study aims to appraise the attitudes of Israeli medical students towards the uninsured migrant population.

Methods: Participants from five medical schools in Israel completed anonymous questionnaires in Hebrew, based on the "Medical Students' Attitudes Toward the Underserved" (MSATU), which assessed students' attitudes regarding the professional responsibility and societal expectations towards the migrants.

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Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1, or dynamin-1-like protein (DNM1L) mediates mitochondrial and peroxisomal division.

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Article Synopsis
  • * Approximately 25% of those with these variants exhibited a Noonan-like phenotype, notably more than traditional NF1 patients (p < .0001), with p.Arg1276 and p.Lys1423 linked to serious cardiovascular issues.
  • * The p.Met1149 variant presented a milder phenotype mainly with skin symptoms, affecting 0.4% of the UAB cohort, highlighting important genotype-phenotype correlations that can improve patient counseling and
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Invasive meningococcal disease (IMD) is one of the leading causes of bacterial meningitis and septicemia in Israel. The purpose of the study was to describe the IMD in the Tel Aviv District and to identify specific populations who could benefit from vaccine introduction. In the Tel Aviv District, the incidence rates ranged from 0.

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Article Synopsis
  • Genome sequencing at base pair resolution reveals genetic causes of atypical hereditary sensory and autonomic neuropathy, epilepsy, and developmental delays in a patient.
  • The patient was found to have rare variants in the RETREG1 gene linked to hereditary sensory and autonomic neuropathy and a de novo mutation in the DNM1L gene associated with dominant forms of encephalopathy and epilepsy.
  • This study highlights how comprehensive genome sequencing can improve diagnosis accuracy for complex genetic disorders.
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