Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.

Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing T9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity.

A simple technique to improve docking time in robotic surgery.

The docking process is a crucial step in robotic surgery, which determines the technical capability of moving the robotic arms during surgery and affects the performance of surgery. Robotic companies, therefore, provide setup guides recommending the trocar placement, arm carts, and operating table positioning for each procedure or body quadrant, to facilitate this process. This process takes time and although improves with experience, reported docking times range from 4 to 29 min.

Prognostic Factors Associated With Increased Mortality in Pediatric Veno-Occlusive Disease Following Hematopoietic Cell Transplantation.

Background: Hepatic veno-occlusive disease (VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) and is categorized as a transplant-related, systemic endothelial disease. Severe VOD can lead to multi-organ dysfunction (MOF) and is associated with a high mortality rate.

Objective: To evaluate the incidence of VOD in children after HCT and analyze the outcomes and risk factors associated with increased mortality.

Prognosis of Cirrhotic Patients After Osteoporotic Femoral Neck Fracture.

: Osteoporotic hip fractures in cirrhotic subjects are associated with increased post-fracture mortality. Our aim was to identify unfavorable factors that were associated with increased post-fracture mortality. : We employed a retrospective evaluation of the short- and long-term prognosis of cirrhotic patients that were admitted with a hip fracture to our institution.

Follow-Up of Neonatal Hearing Screening in the Risk Factor Group for Hearing Loss: Results from a Tertiary Medical Center.

Introduction: Universal newborn hearing screening has been successfully implemented in many places around the world, and it is recommended that cases with risk factors for hearing loss be followed-up regardless of hearing screening results. However, there is a need for clarity regarding the recommended rate of follow-up and which tests should be performed. The aim of this study was to assess the audiologic follow-up program for the group with risk factors.

Adult Onset Foveomacular Vitelliform Dystrophy Shows Genetic Overlap With Age-Related Macular Degeneration.

Purpose: Adult-onset foveomacular vitelliform dystrophy (AFVD) shares phenotypic similarities with age-related macular degeneration (AMD). The genetic factors associated with AFVD are unknown in >80% of cases. This study evaluated the association of known AMD genetic risk variants with AFVD and compared systemic complement activation in these conditions.

Tumor analysis of BRCA carriers reveals genomic similarities although separated by time.

Among the dominant pathogenic genes (PG) in breast cancer are BRCA1/2. Knowing whether a patient carry one of these alterations is meaningful as it affects management. A substantial question is to what extent are the genomic profile of a tumor and its characteristics affected by the germline profile of BRCA1/2 and what is the possible contribution of other environmental factors.

The roles of mTORC1 in parathyroid gland function in chronic kidney disease-induced secondary hyperparathyroidism: Evidence from male genetic mouse models and clinical data.

Secondary hyperparathyroidism (SHP) associated with chronic kidney disease (CKD) contributes to morbidity and mortality, yet the related parathyroid signaling pathways are not fully understood. Previous studies have indicated that the parathyroid mTORC1 pathway is activated in both experimental CKD and hypocalcemia-induced SHP. Furthermore, mice with parathyroid-specific mTOR deficiency (PT-mTOR) exhibit disrupted parathyroid glands, but maintain normal serum PTH levels.

[INTEGRATING SEX AND GENDER DIFFERENCES/GENDER MEDICINE INTO THE FACULTY OF MEDICINE CURRICULUM].

In recent decades, the recognition of the importance of sex, gender and their interrelationship for health research and for the practice of medicine has grown. Accordingly, the move to include gender medicine in medical school curricula has gained momentum in many countries. This article reviews the challenges of integrating this subject into medical school curricula and details the recent initiative to mainstream gender medicine into the six-year curriculum of the Hadassah-Hebrew University Medical School in Jerusalem, Israel.

[EMERGENCY MEDICAL SERVICES ACTIVATION FOR ANAPHYLAXIS DURING THE COVID-19 PANDEMIC: A RETROSPECTIVE STUDY FROM ISRAEL].

Introduction: During the first waves of COVID-19 in 2020, the public was confined to their homes due to closure instructions that applied to gatherings, celebrations, and restaurants, as well as voluntary self-isolation for fear of contagion. This seclusion affected, among other things, pre-hospital emergency medical services (EMS), which experienced a general decrease in their activity for trauma cases and routine medical problems. Other immediate life-saving events are cases of anaphylaxis.

Seroprevalence of Hepatitis C in Ethiopia: First National Study Based on the 2016 Ethiopian Demographic and Health Survey.

Hepatitis C virus (HCV) is hypothesised to be a public health problem in Ethiopia, and systematic review evidence suggested 1%-3% seroprevalence. We aimed to estimate the seroprevalence of HCV overall and across regions of Ethiopia. We estimated HCV seroprevalence using the 2016 Ethiopian Demographic and Health Survey (EDHS-2016).

World delirium awareness and quality survey in 2023-a worldwide point prevalence study.

Background: Delirium, an acute brain dysfunction, is proposed to be highly prevalent in clinical care and shown to significantly increase the risk of mortality and dementia.

Objectives: To report on the global prevalence of clinically documented delirium and delirium-related clinical practices in wards caring for paediatric and adult patients in healthcare facilities.

Design: A prospective, cross-sectional, 39-question survey completed on World Delirium Awareness Day, 15 March 2023.

Inferring DNA methylation in non-skeletal tissues of ancient specimens.

Genome-wide premortem DNA methylation patterns can be computationally reconstructed from high-coverage DNA sequences of ancient samples. Because DNA methylation is more conserved across species than across tissues, and ancient DNA is typically extracted from bones and teeth, previous works utilizing ancient DNA methylation maps focused on studying evolutionary changes in the skeletal system. Here we suggest that DNA methylation patterns in one tissue may, under certain conditions, be informative on DNA methylation patterns in other tissues of the same individual.

Interventional Oncology Meets Immuno-oncology: Combination Therapies for Hepatocellular Carcinoma.

The management of hepatocellular carcinoma (HCC) is undergoing transformational changes due to the emergence of various novel immunotherapies and their combination with image-guided locoregional therapies. In this setting, immunotherapy is expected to become one of the standards of care in both neoadjuvant and adjuvant settings across all disease stages of HCC. Currently, more than 50 ongoing prospective clinical trials are investigating various end points for the combination of immunotherapy with both percutaneous and catheter-directed therapies.

On bench evaluation of intraocular lenses: performance of a commercial interferometer.

NIMO-TEMPO is a metrology device that measures all types of intraocular lenses available in the ophthalmic market. Its technology, based on interferometry, captures the wavefront of the lens to compute optical results essential to evaluate its quality and understand its characteristics. This study aims to demonstrate the reliability of this device and its associated software, TEMPO-MENTOR, in measuring intraocular lenses.

The genetic landscape of Lynch syndrome in the Israeli population.

Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the diagnostic process of Lynch Syndrome (LS). The aim of this report was to comprehensively update on the genetic landscape of LS in the ethnically diverse Israeli-Jewish population. The cohort included 1080 carriers from 588 families; some from underrepresented, understudied Israeli ethnic groups recruited from 8 genetic institutes and high-risk clinics throughout the country.

Predicting tumour resistance to paclitaxel and carboplatin utilising genome-wide screening in haploid human embryonic stem cells.

Taxanes and platinum molecules, specifically paclitaxel and carboplatin, are widely used anticancer drugs that induce cell death and serve as first-line chemotherapy for various cancer types. Despite the efficient effect of both drugs on cancer cell proliferation, many tumours have innate resistance against paclitaxel and carboplatin, which leads to inefficient treatment and poor survival rates. Haploid human embryonic stem cells (hESCs) are a novel and robust platform for genetic screening.