The impact of uterine position on conception modes and perinatal outcomes in nulliparous patients.

Purpose: Retroverted uterus affects 15-20% of patients. While typically not a cause for concern, some studies suggest a relationship between a retroverted uterus and subfertility. Study objective was to investigate the association between uterine position and spontaneous conception rates, as well as potential risks for adverse pregnancy outcomes in nulliparous patients.

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

Pathogenic TP53 germline variants cause young-onset breast cancer and other cancers of the Li-Fraumeni syndrome (LFS) spectrum, but the clinical consequences of partial-loss-of function TP53 variants are incompletely understood. In the consecutive cohort of Palestinian breast cancer patients of the Middle East Breast Cancer Study (MEBCS), breast cancer risk among TP53 p. R181C heterozygotes was 50% by age 50 y and 81% by age 80 y.

Evaluating a Child Presenting with Symptoms Concerning for Sjögren Disease: A Clinical Tool for Practice.

Background/purpose: Childhood Sjögren disease (cSjD) is a rare disease. There are no widely accepted diagnostic or classification criteria for cSjD. To fill this gap, members from CARRA Sjogren Workgroup and the International cSjD Workgroup created a clinical diagnostic algorithm.

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.

Implementation of an Optimized Preoperative Checklist for Endoscopic Sinus Surgery Within a Multiinstitutional Resident Education Curriculum.

Background: Preoperative review of computed tomography (CT) imaging assists with endoscopic sinus surgery (ESS) planning, where trainees may benefit from a systematic approach. We have previously developed an optimized preoperative checklist for sinus CT imaging using an iterative modified Delphi method.

Objective: In this study, we assess the utility of an optimized preoperative checklist for residents performing ESS.