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.

Engineering quantitative stomatal trait variation and local adaptation potential by cis-regulatory editing.

Cis-regulatory element editing can generate quantitative trait variation that mitigates extreme phenotypes and harmful pleiotropy associated with coding sequence mutations. Here, we applied a multiplexed CRISPR/Cas9 approach, informed by bioinformatic datasets, to generate genotypic variation in the promoter of OsSTOMAGEN, a positive regulator of rice stomatal density. Engineered genotypic variation corresponded to broad and continuous variation in stomatal density, ranging from 70% to 120% of wild-type stomatal density.

Mechanisms underlying sex differences in autoimmunity.

Autoimmune diseases are a leading cause of disability worldwide. Most autoimmune diseases occur more often in women than men, with rheumatic autoimmune diseases being among those most highly expressed in women. Several key factors, identified mainly in animal models and cell culture experiments, are important in increasing autoimmune disease in females.

Discovering predisposing genes for hereditary breast cancer using deep learning.

Breast cancer (BC) is the most common malignancy affecting Western women today. It is estimated that as many as 10% of BC cases can be attributed to germline variants. However, the genetic basis of the majority of familial BC cases has yet to be identified.

IL-27 promotes pathogenic T cells in a mouse model of Sjögren's disease.

Sjögren's disease (SjD) is a chronic autoimmune disease characterized by focal lymphocytic inflammation in lacrimal and salivary glands. We recently identified IL-27 as a requisite signal for the spontaneous SjD-like manifestations in nonobese diabetic (NOD) mice. Here, we define T cell-intrinsic effects of IL-27 in lacrimal gland disease in NOD mice.

Scaling up area-based conservation to implement the Global Biodiversity Framework's 30x30 target: The role of Nature's Strongholds.

The Global Biodiversity Framework (GBF), signed in 2022 by Parties to the Convention on Biological Diversity, recognized the importance of area-based conservation, and its goals and targets specify the characteristics of protected and conserved areas (PCAs) that disproportionately contribute to biodiversity conservation. To achieve the GBF's target of conserving a global area of 30% by 2030, this Essay argues for recognizing these characteristics and scaling them up through the conservation of areas that are: extensive (typically larger than 5,000 km2); have interconnected PCAs (either physically or as part of a jurisdictional network, and frequently embedded in larger conservation landscapes); have high ecological integrity; and are effectively managed and equitably governed. These areas are presented as "Nature's Strongholds," illustrated by examples from the Congo and Amazon basins.

Assessment of Relative Energy Deficiency in Sport (REDs) Risk among Adolescent Acrobatic Gymnasts.

Energy imbalance exposes athletes to relative energy deficiency in sports (REDs) syndrome. Data on energy consumption, REDs, and bone mineral density (BMD) in adolescent acrobatic gymnasts, especially in males, are scarce. Our aim was to examine the eating habits, energy balance, body composition, and BMD of these athletes.

Learning From Clinical Supervisor Practice Variability: Exploring Medical Resident and Fellow Experiences and Interpretations.

Purpose: Clinical practice variability is characterized by 2 or more clinicians making different treatment decisions despite encountering a similar case. This study explores how medical residents and fellows experience and interpret intersupervisor clinical practice variability and how these variations influence learning.

Method: Seventeen senior residents or fellows in internal medicine, hematology, or thrombosis medicine (postgraduate year 3 or above) participated in semistructured interviews after a clinical rotation in thrombosis medicine from December 2019 to March 2021.

A Case of Granulomatosis with Polyangiitis Masquerading as Community Acquired Pneumonia.

Granulomatosis with polyangiitis (GPA) has a multitude of presentations, including appearing as a refractory community-acquired pneumonia (CAP) or an isolated localized pulmonary disease. This case describes a patient suspected to have a CAP before further workup and lung biopsy revealed his diagnosis of GPA. This case report demonstrates GPA's diverse presentations, critical complications such as diffuse alveolar hemorrhage (DAH) and cardiac tamponade, and nuanced management options.

The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants.

Background: Surveillance of high-risk individuals for pancreatic ductal adenocarcinoma (PDAC) is recommended. This study aimed to determine the prevalence and outcomes of PDAC and its precursor lesions in BRCA1/2 pathogenic variants (PVs) carriers undergoing pancreatic surveillance.

Methods: A retrospective multicenter cohort study of pancreatic surveillance outcomes in Israeli BRCA1/2 carriers preferably with a family history of PDAC.

Health Care Disparities in Transsphenoidal Surgery for Pituitary Tumors: An Experience from Neighboring Urban Public and Private Hospitals.

 Few studies have assessed the role of socioeconomic health care disparities in skull base pathologies. We compared the clinical history and outcomes of pituitary tumors at private and public hospitals to delineate whether health care disparities exist in pituitary tumor surgery.  We reviewed the records of patients who underwent transsphenoidal pituitary tumor resection at NYU Langone Health and Bellevue Hospital.

A Trainee-Led Quality Improvement Project Using Change Management Theory to Improve Bedside Rounding.

Objective: The coronavirus disease 2019 pandemic disrupted the practice of family-centered rounds. After the height of the pandemic, a trainee-led team identified a low percentage of bedside rounds on general pediatrics resident teams and combined a quality improvement framework and change management theory to increase bedside rounds. Initial efforts focused on a single general pediatrics team with the aim to increase bedside rounds from 18% to 50% within 6 months and sustain improvement for 12 months.

Combination Treatment of Intratumoral Vidutolimod, Radiosurgery, Nivolumab, and Ipilimumab for Microsatellite Stable Colorectal Carcinoma With Liver Metastases.

Introduction: Microsatellite stable metastatic colorectal cancer (MSS mCRC) is largely refractory to immune checkpoint inhibition. We hypothesized that a combination of intratumoral TLR9 agonist, radiosurgery and dual PD-1 and CTLA-4 blockade would induce a local focus of immune stimulation, evoking a systemic immune response.

Patients And Methods: In this phase I single-institution study, patients with MSS mCRC were treated with a priming dose of s.

Artificial Intelligence (AI) in pediatric endocrinology.

Artificial Intelligence (AI) is integrating itself throughout the medical community. AI's ability to analyze complex patterns and interpret large amounts of data will have considerable impact on all areas of medicine, including pediatric endocrinology. In this paper, we review and update the current studies of AI in pediatric endocrinology.

[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN].

Introduction: Hereditary breast and ovarian cancer (HBOC) is predominantly accounted for by pathogenic variants (PVs) in BRCA1/BRCA2 genes. Population screening for recurring PVs in Ashkenazi Jews (AJ) was incorporated into the Israeli health basket in 2020, increasing the identification of BRCA carriers. Information on cancer risks for each PV in Israel is limited.

An immediate way to lower pandemic risk: (not) seizing the low-hanging fruit (bat).

What is the least that humanity can do to mitigate the risks of future pandemics, to prevent worldwide surges in human deaths, illness, and suffering-and more waves of multitrillion US dollar impacts on the global economy? The issues around our consumption and trading of wildlife are diverse and complex, with many rural communities being dependent on wild meat for their nutritional needs. But bats might be one taxonomic group that can be successfully eliminated from the human diet and other uses, with minimal costs or inconvenience to the vast majority of the 8 billion people on Earth. The order Chiroptera merits genuine respect given all that these species contribute to human food supplies through pollination services provided by the frugivores and to disease risk mitigation delivered by insectivorous species.