Urodynamic Changes Following a Staged Trial of Sacral Neuromodulation in Patients With Detrusor Underactivity.

Objective: Sacral neuromodulation (SNM) is an established treatment for detrusor underactivity (DU) and nonobstructive urinary retention. The mechanism of action for SNM in DU, however, remains poorly understood. The objective of this study was to investigate the urodynamic study (UDS) changes in DU patients during the trial period following first stage tined-lead placement (FSTLP).

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of ARID2-RD, providing clinicians with additional data for better care and aid in the future diagnosis of this condition.

Improving communication of unexpected findings: The radiology actional findings tracking (RAFT) program.

Incidental findings are unexpected, actionable discoveries made on diagnostic imaging that have significant patient care and medicolegal implications if not well managed. Despite their importance, few systems exist to manage incidental findings. The Radiology Actionable Findings Tracking (RAFT) Program was developed to improve communication of incidental findings to radiologists, providers, and their patients.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

ChatGPT-4 Omni Performance in USMLE Disciplines and Clinical Skills: Comparative Analysis.

Background: Recent studies, including those by the National Board of Medical Examiners, have highlighted the remarkable capabilities of recent large language models (LLMs) such as ChatGPT in passing the United States Medical Licensing Examination (USMLE). However, there is a gap in detailed analysis of LLM performance in specific medical content areas, thus limiting an assessment of their potential utility in medical education.

Objective: This study aimed to assess and compare the accuracy of successive ChatGPT versions (GPT-3.

Developing an initial explanatory theory for Partnering for Change using realist evaluation.

Introduction: Partnering for Change (P4C) is an innovative practice model for school-based occupational therapy developed in Canada and informed by a program of research spanning nearly two decades. National and international interest in P4C necessitated development of an explanatory theory to guide implementation in varied contexts. The purpose of this study is to document the process of theory development and to provide an overview of the initial P4C explanatory theory.

Cis-Regulatory Element and Transcription Factor Circuitry Required for Cell-Type Specific Expression of FOXP3.

FOXP3 is a lineage-defining transcription factor (TF) for immune-suppressive regulatory T cells (Tregs). While mice exclusively express FOXP3 in Tregs, humans also transiently express FOXP3 in stimulated conventional CD4+ T cells (Tconvs). Mechanisms governing these distinct expression patterns remain unknown.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).

Massively parallel characterization of regulatory elements in the developing human cortex.

Nucleotide changes in gene regulatory elements are important determinants of neuronal development and diseases. Using massively parallel reporter assays in primary human cells from mid-gestation cortex and cerebral organoids, we interrogated the cis-regulatory activity of 102,767 open chromatin regions, including thousands of sequences with cell type-specific accessibility and variants associated with brain gene regulation. In primary cells, we identified 46,802 active enhancer sequences and 164 variants that alter enhancer activity.

Is detrusor overactivity with detrusor underactivity limited to the elderly?

Objective: Detrusor overactivity with detrusor underactivity (DO-DU) is classically described in frail institutionalized elderly patients, but we have also observed this diagnosis in younger populations. This research aims to identify the differences between two age groups of DO-DU patients.

Materials And Methods: This study included DO-DU patients from a single center from 2012 to 2023.

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Purpose: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants.

Acute cardiac tamponade during atrial flutter ablation: improved hemodynamics after positive pressure ventilation: a case report.

Introduction: Acute cardiac tamponade is a rare event during any type of interventional or surgical procedure. It can occur during electrophysiology procedures due to radiofrequency ablation, lead or catheter manipulation, transseptal puncture, laser lead extractions, or left atrial appendage occlusion device positioning. Cardiac tamponade is difficult to study in a prospective manner, and case reports and case series are important contributions to understanding the best options for patient care.

Validation of a human thermoregulatory model during prolonged immersion in warm water.

This study validates the Six Cylinder Thermoregulatory Model (SCTM) during prolonged warm water immersion, which underpins the Probability of Survival Decision Aid (PSDA) currently in use by the United States Coast Guard (USCG). PSDA predicts survival time for hypothermia and dehydration. USCG has been using PSDA for search and rescue operation since 2010.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition.

Methods: Through an international collaboration, clinical and molecular data from 20 individuals were systematically gathered, and a comparative analysis was conducted between this series and existing literature.

Partnering for Change: collaborating to transform occupational therapy services that support inclusive education.

The United Nations champions inclusive education as a moral obligation, requiring equitable learning environments that meet all individuals' diverse learning needs and abilities, including children and youth. Yet the practice of inclusive education is variable and implementation challenges persist. A participatory action research framework was used to develop a solution, Partnering for Change (P4C), which is a tiered service delivery model that bridges health and education by re-envisioning occupational therapy services and transforming the role of the occupational therapist from a service provider for individual children to a collaborative partner supporting the whole school community.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin, as well as severe visual abnormalities. We focused on a subgroup of 29 patients for whom genetic diagnosis was pending because at least one of their identified variants in or around exon 10 of OCA2 is of uncertain significance (VUS).

Clinical, genetic and biochemical signatures of -related ocular malformations.

Background: The retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in (), encoding a serum retinol-specific transporter, display variable ocular phenotypes. Although few families have been reported worldwide, recessive inherited variants appear to be associated with retinal degeneration, while individuals with dominantly inherited variants manifest ocular development anomalies, mainly microphthalmia, anophthalmia and coloboma (MAC).

Patient-dental student provider communication in an academic dental clinic setting: A dyadic data analysis.

Purpose: Patient-dentist communication is an inherently dyadic social process; however, it is rarely regarded as such in research and pedagogy. This study utilizes a dyadic data analysis approach to study patient-dental student provider communication in an academic dental clinic.

Procedures: Using pairwise data collected from patient-dental student provider dyads, we conducted unadjusted and adjusted actor-partner interdependence models to examine the association of intrapersonal (actor) and interpersonal (partner) effects of three communication skills on the assessment of appointment interaction among patient-dental student provider dyads in a pre-doctoral comprehensive care academic dental clinic setting.