Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.

The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities.

Reliability of Central Vein Sign Imaging With 3T FLAIR* in a Multicenter Study.

Background And Purpose: The central vein sign (CVS) is a diagnostic imaging biomarker for multiple sclerosis (MS). FLAIR* is a combined MRI contrast that provides high conspicuity for CVS at 3 Tesla (3T), enabling its sensitive and accurate detection in clinical settings. This study evaluated whether CVS conspicuity of 3T FLAIR* is reliable across imaging sites and MRI vendors and whether gadolinium (Gd) contrast increases CVS conspicuity.

Dengue dynamics, predictions, and future increase under changing monsoon climate in India.

The global burden of dengue disease is escalating under the influence of climate change, with India contributing a third of the total. The non-linearity and regional heterogeneity inherent in the climate-dengue relationship and the lack of consistent data makes it difficult to make useful predictions for effective disease prevention. The current study investigates these non-linear climate-dengue links in Pune, a dengue hotspot region in India with a monsoonal climate and presents a model framework for predicting both the near-term and future dengue mortalities.

Durability of response of UGN-101: Longitudinal follow up of multicenter study.

Purpose: UGN-101, a reverse thermal mitomycin gel for upper tract instillation, recently became the first FDA approved treatment for upper tract urothelial carcinoma (UTUC). However, the durability of UGN-101 treatment has not been well described. Here we present long term outcomes from our multi-institutional cohort for patients who initially responded to treatment.

Art of TIL immunotherapy: SITC's perspective on demystifying a complex treatment.

In a first for solid cancers, cellular immunotherapy has entered standard of care in the treatment of patients with metastatic melanoma. The infusion of autologous tumor-infiltrating T lymphocytes (TIL) is capable of mediating durable tumor regression and is now Food and Drug Administration-approved for patients with disease refractory to immune checkpoint inhibitors. Since the advent of chimeric antigen receptor (CAR) T cells for patients with hematological malignancies, a growing network of centers capable of delivering effector T cell products to patients has developed.

Coexistence of cardiac sarcoidosis and arrhythmogenic cardiomyopathy-associated genetic variants: a multicentre case-control study.

Background: Cardiac sarcoidosis (CS) is a chronic inflammatory disease characterised by non-caseating granulomas, while arrhythmogenic cardiomyopathy (ACM) is a genetic condition mainly affecting desmosomal proteins. The coexistence of CS and genetic variants associated with ACM is not well understood, creating challenges in diagnosis and management. This study aimed to describe the clinical, imaging and genetic features of patients with both conditions.

Incidence, long-term predictors and progression of chronic kidney disease among African migrants and non-migrants: the transcontinental population-based prospective RODAM cohort study.

Background: Limited longitudinal data exist on chronic kidney disease (CKD) in African populations undergoing epidemiological transitions. We investigated incidence, long-term predictors and progression of CKD among Ghanaians residing in Ghana and Ghanaian migrants in the Netherlands (Amsterdam).

Methods And Findings: We analysed data from 2183 participants in the transcontinental population-based prospective Research on Obesity and Diabetes among African Migrants cohort, followed for approximately 7 years.

ASRA Pain Medicine consensus practice infection control guidelines for regional anesthesia and pain medicine.

Background: To provide recommendations on risk mitigation, diagnosis and treatment of infectious complications associated with the practice of regional anesthesia, acute and chronic pain management.

Methods: Following board approval, in 2020 the American Society of Regional Anesthesia and Pain Medicine (ASRA Pain Medicine) commissioned evidence-based guidelines for best practices for infection control. More than 80 research questions were developed and literature searches undertaken by assigned working groups comprising four to five members.

Cardiovascular Complications During Delivery Hospitalization in Patients With Psoriasis.

Background: Psoriasis in pregnancy is associated with adverse maternal outcomes. However, there are limited data on this subject.

Objectives: The purpose of our study was to investigate the association between psoriasis and related cardiovascular complications during delivery.

Optimizing energy threshold selection for low-concentration contrast agent quantification in small animal photon-counting CT.

Gold nanoparticles (GNPs) are widely used for biological research and applications. The in-vivo concentration of GNPs is usually low due to biological safety concerns, thus posing a challenge for imaging. This work investigates on optimal energy threshold selection in photon-counting detector(PCD)-based CT (PCCT) for the quantification of low-concentration GNPs.

Resilience-runtime tradeoff relations for quantum algorithms.

A leading approach to algorithm design aims to minimize the number of operations in an algorithm's compilation. One intuitively expects that reducing the number of operations may decrease the chance of errors. This paradigm is particularly prevalent in quantum computing, where gates are hard to implement and noise rapidly decreases a quantum computer's potential to outperform classical computers.

Maternal adverse childhood experiences and lifetime experiences of racial discrimination: Associations with current household hardships and intergenerational health.

Growing evidence shows parents' exposure to adverse childhood experiences (ACEs) and lifetime experiences of racial discrimination (EOD) negatively impacts not only their own health, but also their children's health. ACEs and EOD can be conceptualized as a reflection of shared underlying adversities and structural injustices that manifest in inequitable educational and employment opportunities and differential treatment by public policies and programs that impede parents' capacity to support their families. Therefore, a potentially important, but underexplored, mechanism of effects of parent ACEs and EOD on the next generation is through effects on household material hardships.

Chronic inflammation in a radium dial painter cohort: elevated neutrophil to lymphocyte ratio and radiation-induced hearing loss.

The radium dial painters (RDP) are a well-described group of predominantly young women who incidentally ingested 226Ra and 228Ra as they painted luminescent watch dials in the first part of the twentieth century. In 1974 pathologist Dr. William D.

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia.

Introduction: Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient.

Objective: To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia.

Materials And Methods: We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity.

Knee Pain Is Not Always the Knee.

» Lumbar spine pathology is a known cause of referred pain to the lower extremities and should be investigated as a possible source of knee pain, especially with patients in their sixth decade.» While primary knee pathology is common, spinal pathology should always be considered in older patients presenting with knee pain, especially in atraumatic cases where knee imaging does not correlate with complaints or examination findings.» Lumbar (L) 3-4 pathology is most commonly affected in referred knee pain, with the 2 most common pathologies being spinal stenosis and disc herniation.

Regulatory Trends of Organophosphate and Pyrethroid Pesticides in Cannabis and Applications of the Comparative Toxicogenomics Database and Caenorhabditis elegans.

Organophosphate and pyrethroid pesticides are common contaminants in cannabis. Due to the status of cannabis as an illicit Schedule I substance at the federal level, there are no unified national guidelines in the U.S.

Reversible Ferroelectric Polarization Modulation of Chiral Molecular Ferroelectrics by Circularly Polarized Light.

The optical modulation of ferroelectric polarization constitutes a transformative, non-contact strategy for the precise manipulation of ferroelectric properties, heralding advancements in optically stimulated ferroelectric devices. Despite its potential, progress in this domain is constrained by material limitations and the intricate nature of the underlying mechanisms. Recent studies have achieved efficient regulation of ferroelectric polarization and thermal conductivity in chiral ferroelectric thin films through the application of left- and right-handed circularly polarized light (LCP and RCP).

Characteristics of Invasive Pneumococcal Diseases Cases Among U.S. Children With Hematologic Malignancies Before and After Introduction of Thirteen-valent Pneumococcal Conjugate Vaccine, 2005-2019.

Background: Children with hematologic malignancies (HMs) are at increased risk of invasive pneumococcal disease (IPD). Data on long-term IPD trends in U.S.

Fundus Autofluorescence Variation in Geographic Atrophy of Age-Related Macular Degeneration: A Clinicopathologic Correlation.

Purpose: The purpose of this study was to develop ground-truth histology about contributors to variable fundus autofluorescence (FAF) signal and thus inform patient selection for treating geographic atrophy (GA) in age-related macular degeneration (AMD).

Methods: One woman with bilateral multifocal GA, foveal sparing, and thick choroids underwent 535 to 580 nm excitation FAF in 6 clinic visits (11 to 6 years before death). The left eye was preserved 5 hours after death.

Scholarship Recipients' Perspectives on Full-Time Employment as a Nurse Educator Following Graduation.

Cohen scholars (CS) is a Maryland scholarship program aimed to increase the number of qualified nurse educators and ease the nurse faculty shortage. Nurses pursuing graduate degrees may apply for scholarships in exchange for service as educators in a faculty or clinical educator role. This study was conducted to understand the career decision-making processes of recent CS graduates and facilitators and barriers to assuming a faculty role.

Categorization processes in emotion expression recognition: The roles of language and essentialism.

We examined categorical processing biases in the perception and recognition of facial expressions of emotion across two studies. In both studies, participants first learned to discriminate between two ambiguous facial expressions of emotion selected from the middle of a continuous array of blended expressions (i.e.

Kidney organ injury scaling: 2025 update.

The American Association for the Surgery of Trauma initially published the organ injury scaling for the kidney in 1989, which was subsequently updated in 2018. This current American Association for the Surgery of Trauma kidney organ injury scaling update incorporates the latest evidence in diagnosis and management of renal trauma and is based upon a multidisciplinary consensus. These changes reflect the near universal use of computed tomography for renal trauma evaluation and the widespread adoption of conservative management across all grades of renal trauma.

Prospective Validation of an Automated Hybrid Multidimensional MRI Tool for Prostate Cancer Detection Using Targeted Biopsy: Comparison with PI-RADS-based Assessment.

Purpose To evaluate the use of an automated hybrid multidimensional MRI (HM-MRI)-based tool to prospectively identify prostate cancer targets before MRI/US fusion biopsy in comparison with Prostate Imaging and Reporting Data System (PI-RADS)-based multiparametric MRI (mpMRI) evaluation by expert radiologists. Materials and Methods In this prospective clinical trial (ClinicalTrials.gov registration no.