The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.

Genetic workup is becoming increasingly common in the clinical assessment of neurological disorders. We evaluated its yield among middle-aged and elderly neurological patients, in a real-world context. This retrospective study included 368 consecutive Israeli patients aged 50 years and older (202 [54.

Identification of severely injured children at very low risk of emergent surgery: A national trauma registry study.

Objective: The number of pediatric trauma patients requiring surgical interventions has been steadily decreasing allowing for a judicious approach to immediately available resources. This study aimed to derive and validate a prediction rule that reliably identifies injured children who are at very low risk for requiring emergency surgery upon emergency department (ED) arrival.

Methods: A retrospective cohort study of data included in the Israeli National Trauma Registry from January 1, 2011, through December 31, 2020, was conducted.

Heritability of Body Mass Index Among Familial Generations.

Importance: Studies on the familial effects of body mass index (BMI) status have yielded a wide range of data on its heritability.

Objective: To assess the heritability of obesity by measuring the association between the BMIs of fathers, mothers, and their offspring at the same age.

Design, Setting, And Participants: This cohort study used data from population-wide mandatory medical screening before compulsory military service in Israel.

The association between frailty biomarkers and 20-year all-cause and cardiovascular mortality among community-dwelling older adults.

Objectives: While several biomarkers were previously associated with frailty and mortality, data are still contradicting. We aimed to evaluate the association between novel biomarkers and frailty among community-dwelling older adults to enhance understanding of the pathophysiology of frailty.

Methods: Nine hundred and sixty-three older adults were screened during the third phase (1999-2008) of the Israel study on Glucose Intolerance, Obesity, and Hypertension (GOH).

Cognitive function in adolescence and the risk of early-onset stroke.

Background: Stroke is increasingly prevalent at younger ages but the risk factors are uncertain. We examined the association between adolescent cognitive function and early-onset stroke.

Methods: This was a nationwide population-based cohort study of 1 741 345 Israeli adolescents (42% women) who underwent comprehensive cognitive function tests at age 16-20 years, before mandatory military service, during 1987-2012.

A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum.

Mutated skeletal muscle ryanodine receptor-1 (RYR1) gene is associated with a spectrum of autosomal dominant and recessive RyR1-related disorders with a wide phenotype. This report describes a variable phenotype associated with a previously unreported RYR1 frameshift pathogenic variant, (NM_000540.2) c.

Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study.

Background: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse.

Objective: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.

Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers.

Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.

The Reliability and Validity of the OneStep Smartphone Application for Gait Analysis among Patients Undergoing Rehabilitation for Unilateral Lower Limb Disability.

An easy-to-use and reliable tool is essential for gait assessment of people with gait pathologies. This study aimed to assess the reliability and validity of the OneStep smartphone application compared to the C-Mill-VR+ treadmill (Motek, Nederlands), among patients undergoing rehabilitation for unilateral lower extremity disability. Spatiotemporal gait parameters were extracted from the treadmill and from two smartphones, one on each leg.

Late-Onset Sepsis among Extremely Preterm Infants of 24-28 Weeks Gestation: An International Comparison in 10 High-Income Countries.

Introduction: Despite advances in neonatal care, late-onset sepsis remains an important cause of preventable morbidity and mortality. Neonatal late-onset sepsis rates have decreased in some countries, while in others they have not. Our objective was to compare trends in late-onset sepsis rates in 9 population-based networks from 10 countries and to assess the associated mortality within 7 days of late-onset sepsis.

First-trimester fasting plasma glucose levels and progression to type 2 diabetes: A 5-year cohort study.

Objective: Impaired fasting glucose is a prediabetic condition defined as glucose levels of 100-125 mg/dL and is considered a risk factor for type 2 diabetes. However, this definition does not confer to pregnancy. The significance of first-trimester fasting glucose and future progression to diabetes is not well defined.

Stuttering in adolescence and the risk for dysglycemia in early adulthood.

Aims: To investigate the association between stuttering during adolescence and the onset of dysglycemia (prediabetes or type 2 diabetes) in early adulthood among men and women.

Materials And Methods: This cohort study included Maccabi Health Services members assessed for mandatory military service at ages 16-19 during 1990-2019 and followed until 31 December 2020. Stuttering status was recorded in the baseline medical evaluation.

Are rare heterozygous variants associated with Parkinson's disease?

Previous studies have suggested that rare biallelic mutations may cause autosomal recessive parkinsonism and Parkinson's disease (PD). Our study explored the impact of rare variants in non-familial settings, including 8,165 PD cases, 818 early-onset PD (EOPD, <50 years) and 70,363 controls. Burden meta-analysis using optimized sequence Kernel association test (SKAT-O) revealed an association between rare nonsynonymous variants in the Sac1 SYNJ1 domain and PD (P=0.

Long-Term Outcomes of Cricothyroidotomy Versus Endotracheal Intubation in Military Personnel: A Retrospective Comparative Analysis Cohort Study.

Introduction: Emergency airway management is critical in trauma care. Cricothyroidotomy (CRIC) is a salvage procedure commonly used in failed endotracheal intubation (ETI) or difficult airway cases. However, more data is needed regarding the short and long-term complications associated with CRIC.

Immediate versus expedient emergent laparotomy in unstable isolated abdominal trauma patients.

Introduction: Unstable abdominal trauma patients should be treated with emergent laparotomy. However, few studies have evaluated the association between time to surgery and survival in these patients. We aimed to assess the influence of time to laparotomy on outcomes in blunt and penetrating unstable abdominal trauma patients.

Timely care for age-related macular degeneration: a qualitative study among retina specialists in Israel.

Background: Age-related macular degeneration (AMD) affects quality of life and independence, and its incidence and prevalence are increasing due to ageing of the population. Access to effective timely treatment can improve vision and reduce incidence of blindness. This study aimed to explore the perspectives of ophthalmologists in the Israeli public healthcare system regarding timely treatment of AMD patients.

Demographic and injury trends for car crash casualties hospitalized in Level I Trauma centers over two decades: data from the National Trauma Registry.

Background: During the past two decades, there have been many changes in automotive and medical technologies, road infrastructure, trauma systems, and demographic changes which may have influenced injury outcomes. The aim of this study was to examine injury trends among traffic casualties, specifically private car occupants, hospitalized in Level I Trauma Centers (TC).

Methods: A retrospective cohort study was performed based on data from the Israel National Trauma Registry.

Body mass index and astigmatism: A nationwide study.

Background: Existing research on the relationship between body mass index (BMI) and astigmatism yields inconsistent results. This study analyses this association in a nationally representative sample of adolescents.

Methods: This retrospective, cross-sectional study included Israeli adolescents who underwent medical assessments before mandatory military service between 2011 and 2022.

Validation of mobile phone use recall in the multinational MOBI-kids study.

Potential differential and non-differential recall error in mobile phone use (MPU) in the multinational MOBI-Kids case-control study were evaluated. We compared self-reported MPU with network operator billing record data up to 3 months, 1 year, and 2 years before the interview date from 702 subjects aged between 10 and 24 years in eight countries. Spearman rank correlations, Kappa coefficients and geometric mean ratios (GMRs) were used.