Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.

Functional evaluation and clinical classification of BRCA2 variants.

Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers. However, variants of uncertain significance limit the clinical utility of test results. Thus, there is a need for functional characterization and clinical classification of all BRCA2 variants to facilitate the clinical management of individuals with these variants.

Eosinophilic Esophagitis-Related Food Impaction: Distinct Demographics, Interventions, and Promising Predictive Models.

Background: Eosinophilic esophagitis (EoE) is an increasingly common cause of food impaction.

Aims: This study aims to provide a nationwide analysis of food impaction in patients with or without EoE diagnosis, concentrating on patient demographics, interventions, outcomes, and development of predictive machine-learning models.

Methods: A retrospective assessment was conducted using Nationwide Emergency Department Sample data from January 1, 2018, to December 31, 2019.

Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data.

Introduction: Healthcare payers in the USA increasingly cover genetic testing, including exome sequencing (ES), for pediatric indications. Analysis of claims data enables understanding of utilization and costs in real-world settings. The objective of this study was to describe genetic test utilization, diagnostic outcomes, and costs for children who received ES as well as for those who received less comprehensive forms of genetic testing, along with their families.

Carbon Footprint Analysis of an Outpatient Dermatology Practice at an Academic Medical Center.

Importance: There is growing awareness of the US health sector's substantial contribution to the country's greenhouse gas (GHG) emissions, exacerbating the health threats from climate change. Reducing health care's environmental impact requires understanding its carbon emissions, but there are few published audits of health systems and fewer comprehensive emissions analyses at the clinic or department level.

Objective: To quantify the annual GHG emissions from a large outpatient dermatology practice, compare relative sources of emissions, and identify actionable targets.

The Proteomics of T-Cell and Early T-Cell Precursor (ETP) Acute Lymphocytic Leukemia: Prognostic Patterns in Adult and Pediatric-ETP ALL.

Background: The 5-year overall survival (OS) rates of T-cell lymphocytic leukemia (T-ALL) are better for children (>90%) compared to adults (~57%). The early T-cell precursor (ETP) T-ALL subtype is prognostically unfavorable in adults, but less significant in pediatric T-ALL, and the diagnosis and prognosis of "near"-ETP is controversial. We compared protein and RNA expression patterns in pediatric and adult T-ALL to identify prognostic subgroups, and to further characterize ETP and near-ETP T-ALL in both age groups.

Comparison of Ultrasound Characteristics of Peripapillary Hyperreflective Ovoid Mass-Like Structures (PHOMS) and Optic Disc Drusen in Children.

Background: In children, pseudopapilledema is frequently caused by peripapillary hyperreflective ovoid mass-like structures (PHOMS) or optic disc drusen (ODD). While enhanced depth imaging (EDI) OCT can identify both, lack of cooperation, especially from younger children due to the duration of testing, often necessitates the use of B-scan ultrasound (BSUS). This study investigated whether PHOMS are hyperreflective on BSUS and if BSUS can differentiate PHOMS from ODD.

Two-Layer Retrieval-Augmented Generation Framework for Low-Resource Medical Question Answering Using Reddit Data: Proof-of-Concept Study.

Background: The increasing use of social media to share lived and living experiences of substance use presents a unique opportunity to obtain information on side effects, use patterns, and opinions on novel psychoactive substances. However, due to the large volume of data, obtaining useful insights through natural language processing technologies such as large language models is challenging.

Objective: This paper aims to develop a retrieval-augmented generation (RAG) architecture for medical question answering pertaining to clinicians' queries on emerging issues associated with health-related topics, using user-generated medical information on social media.

Maintenance treatment of catatonia with benzodiazepines: A case series and literature review.

Objective: Benzodiazepines, particularly lorazepam, are good options for acute catatonia treatment. Published catatonia literature on benzodiazepine maintenance treatment and benzodiazepine tolerance is limited.

Methods: This is a chart review covering 30 years of clinical experience in the state of Kentucky, (United States of America), where there was no easy access to electroconvulsive therapy.

Medical & Socioeconomic Risk Factors Associated with Lack of Neurodevelopmental Evaluation Following Neonatal Cardiac Surgery.

Neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass (CPB) are at high-risk for unfavorable neurodevelopmental (ND) outcomes and are recommended for ND evaluation (NDE); however, poor rates have been reported. We aimed to identify risk factors associated with lack of NDE. This single-center retrospective observational study included neonates < 30 days old who underwent CPB and survived to discharge between 2012 and 2018.

The hematopoietic niche assembles through collective cell migration controlled by neighbor tissues and Slit-Robo signaling.

Niches are often found in specific positions in tissues relative to the stem cells they support. Consistency of niche position suggests that placement is important for niche function. However, the complexity of most niches has precluded a thorough understanding of how their proper placement is established.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Sepsis-induced cardiogenic shock: controversies and evidence gaps in diagnosis and management.

Sepsis often leads to vasoplegia and a hyperdynamic cardiac state, with treatment focused on restoring vascular tone. However, sepsis can also cause reversible myocardial dysfunction, particularly in the elderly with pre-existing heart conditions. The Surviving Sepsis Campaign Guidelines recommend using dobutamine with norepinephrine or epinephrine alone for patients with septic shock with cardiac dysfunction and persistent hypoperfusion despite adequate fluid resuscitation and stable blood pressure.

The impact of common and rare genetic variants on bradyarrhythmia development.

To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively.