Patient Perceptions of Emerging Gene Therapies for Arrhythmogenic Right Ventricular Cardiomyopathy.

Background: No disease-specific therapy currently exists for arrhythmogenic right ventricular cardiomyopathy (ARVC), a progressive cardiogenetic condition conferring elevated risk for ventricular arrhythmias, heart failure, and sudden cardiac death. Emerging gene therapies have the potential to fill this gap. However, little is known about how adults with ARVC, or any other inherited cardiomyopathy or arrhythmia syndrome, appraise the risks and benefits of gene therapy research and which considerations may influence their decisions about clinical trial participation.

Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United States.

Background: Though genomic science has rapidly advanced, efforts to demonstrate the population-level utility of genomics have been slow to follow. It has long been argued that the family is an important unit of significance in genomics, yet it has been challenging to address this in clinical care. This is apparent in how hospital administrators and clinicians in the United States typically approach cascade screening, the process of notifying and offering genetic testing to at-risk relatives of a patient with a hereditary condition.

Autonomous nervous system responses to environmental-level exposure to 5G's first deployed band (3.5 GHz) in healthy human volunteers.

Following the global progressive deployment of 5G networks, considerable attention has focused on assessing their potential impact on human health. This study aims to investigate autonomous nervous system changes by exploring skin temperature and electrodermal activity (EDA) among 44 healthy young individuals of both sexes during and after exposure to 3.5 GHz antenna-emitted signals, with an electrical field intensity ranging from 1 to 2 V/m.

Renegotiation, uncertainty, imagination: Assemblage perspectives on reproductive and family planning with an Inborn Error of immunity.

Advances within the new genetics expand our understanding of the scope and presentation of inherited conditions, particularly to include incompletely penetrant and variably expressive conditions. These features can complicate patients' reproductive and family planning processes, in part because they expand the possibilities of life with an inherited condition. Despite many inquiries into reproductive planning with an inherited condition, accounts of experiential knowledge and reproductive planning fail to adequately describe the uncertainties experienced by people living with incompletely penetrant and variably expressive conditions.

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in -related activated PI3K delta syndrome.

Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their offspring. In families with one or more affected offspring, occurrence of the same apparently variants can be an indicator of mosaicism in either parent. Panel-based deep sequencing has the capacity to detect low-level mosaic variants with coverage exceeding the typical limit of detection provided by current, readily available sequencing techniques.

Deep learning-driven forward and inverse design of nanophotonic nanohole arrays: streamlining design for tailored optical functionalities and enhancing accessibility.

In nanophotonics, nanohole arrays (NHAs) are periodic arrangements of nanoscale apertures in thin films that provide diverse optical functionalities essential for various applications. Fully studying NHAs' optical properties and optimizing performance demands understanding both materials and geometric parameters, which presents a computational challenge due to numerous potential combinations. Efficient computational modeling is critical for overcoming this challenge and optimizing NHA-based device performance.

Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.

Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) are at the forefront of test initiation, patient education, and management of EGT results. However, little research has examined the experiences of PCPs in health systems offering clinical EGT.

Impact of blood transfusion on mortality and rebleeding in gastrointestinal bleeding: an 8-year cohort from a tertiary care center.

Background: The aim of this study was to investigate the impact of blood transfusion (BT) on mortality and rebleeding in patients with gastrointestinal bleeding (GIB) and whether BT at a threshold of ≤7 g/dL may improve these outcomes.

Methods: A prospective study was conducted in patients admitted with GIB between 2013 and 2021. Antithrombotic (AT) use and clinical outcomes were compared between transfused and non-transfused patients, and between those transfused at a threshold of ≤7 vs.

Queering genomics: How cisnormativity undermines genomic science.

Over the past century, genetics and genomics ("genomics") have contributed significantly to our knowledge of human biology and disease. Genomics has also bolstered inaccurate and harmful arguments about "essential" differences between socially defined groups. These purported differences have reinforced class hierarchies and justified the mistreatment of groups such as Black people, Indigenous people, and other people of color and/or people with disabilities.

The effective surgical management of traumatic external auditory canal atresia resulting from a dog bite using a stent silicone prosthesis.

Introduction: Acquired external auditory canal (EAC) atresia is a very rare condition, especially due to direct trauma. The challenge lies in the difficulty of treatment and the tendency to recur even after a long period. Here we present a case report of treatment of recurrent EAC atresia resulting from a dog bite using a silicone stent prosthesis.

Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies.

Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice clinical skills. It is widely used in healthcare training and evaluation, and there are best practices for design, implementation, debriefing, and assessment. An increasing number of genetic counseling graduate programs use simulation in various ways, ranging from role-plays to working with professional simulated/standardized patient (SP) actors.

Experiences of hereditary cancer care among transgender and gender diverse people: "It's gender. It's cancer risk…it's everything".

Transgender and gender diverse (TGD) individuals are a significant yet underrepresented population within genetic counseling research and broader LGBTQI+ health studies. This underrepresentation perpetuates a cycle of exclusion from the production of medical knowledge, impacting the quality and equity of care received by TGD individuals. This issue is particularly poignant in cancer genetic counseling, where TGD individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for cisgender individuals.

Antiviral and Anti-Inflammatory Therapeutic Effect of RAGE-Ig Protein against Multiple SARS-CoV-2 Variants of Concern Demonstrated in K18-hACE2 Mouse and Syrian Golden Hamster Models.

SARS-CoV-2 variants of concern (VOCs) continue to evolve and reemerge with chronic inflammatory long COVID sequelae, necessitating the development of anti-inflammatory therapeutic molecules. Therapeutic effects of the receptor for advanced glycation end products (RAGE) were reported in many inflammatory diseases. However, a therapeutic effect of RAGE in COVID-19 has not been reported.

Characterizing Decision-Making Surrounding Exercise in ARVC: Analysis of Decisional Conflict, Decisional Regret, and Shared Decision-Making.

Background: Limiting high-intensity exercise is recommended for patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) due to its association with penetrance, arrhythmias, and structural progression. Guidelines recommend shared decision-making (SDM) for exercise level, but there is little evidence regarding its impact. Therefore, we sought to evaluate the extent and implications of SDM for exercise, decisional conflict, and decisional regret in patients with ARVC and at-risk relatives.

Assessment of Electrical Brain Activity of Healthy Volunteers Exposed to 3.5 GHz of 5G Signals within Environmental Levels: A Controlled-Randomised Study.

Following the recent deployment of fifth-generation (5G) radio frequencies, several questions about their health impacts have been raised. Due to the lack of experimental research on this subject, the current study aimed to investigate the bio-physiological effects of a generated 3.5 GHz frequency.

Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting.

The majority of genomic sequencing and microarray results are clinically uninformative, meaning that they do not suggest a need for any behavioral action or medical intervention. Prior studies have shown that recipients of uninformative genomic testing results ("uninformative results" hereafter) may incorrectly interpret them to imply a lowered risk of disease or false reassurance about future health risks. Few studies have examined how patients understand uninformative results when they are returned in a research setting, where there is wide variation in analytical specifications of testing, interpretation and reporting practices, and resources to support the return of results.

Contextualizing and optimizing novel strategies to improve the latent TB continuum of care: Insights from people living with HIV and health care providers in Brazil.

Tuberculosis (TB) causes 1 in 3 deaths among people living with HIV (PLHIV). Diagnosing and treating latent tuberculosis infection (LTBI) is critical to reducing TB incidence and mortality. Blood-based screening tests (e.

Reason-Based Abortion Bans, Disability Rights, and the Future of Prenatal Genetic Testing.

Recent advances in prenatal genetic testing have made testing for congenital disorders more accessible, with emerging technologies promising further expansion of available testing options. In particular, non-invasive prenatal testing ("NIPT") has allowed women to identify more fetal disorders earlier in pregnancy than was possible only a decade ago. In addition to allowing women to prepare for the birth of a child with a disability, prenatal diagnoses give women the ability to terminate a pregnancy to avoid raising a child with a disability, a choice driven by myriad factors.

Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.

Objective: To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection.

Methods: Determination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow.

Performance Enhancement of Ytterbium-Doped Fiber Amplifier Employing a Dual-Stage In-Band Asymmetrical Pumping.

The performance of doped fiber amplifiers can be enhanced significantly with the help of multi-stage pumping technique provided that various critical parameters of pumps including their optical power and wavelength are optimized. We report the performance enhancement of a ytterbium doped fiber amplifier (YDFA) for a 1.02-1.

Genomic tools for health: Secondary findings as findings to be shared.

Purpose: Whether and how to disclose secondary finding (SF) information to children is ethically debated. Some argue that genetic testing of minors should be limited to preserve the child's future autonomy. Others suggest that disclosure of SFs can occur if it is in the best interests of the child.

Development and Validation of a Novel 1-year Mortality Risk Score That Includes the Use of Antithrombotic in Patients With Overt Gastrointestinal Bleeding.

Goals And Background: We aimed to develop a novel 1-year mortality risk-scoring system that includes use of antithrombotic (AT) drugs and to validate it against other scoring systems in patients with acute gastrointestinal bleeding (GIB).

Study: We developed a risk-scoring system from prospectively collected data on patients admitted with GIB between January 2013 and August 2020, who had at least 1- year of follow-up. Independent predictors of 1-year mortality were determined after adjusting for the following confounders: the age-adjusted Charlson Comorbidity Index (CCI) (divided into 4 groups: CCI-0=0, CCI-1=1 to 3, CCI-2=4 to 6, CCI-3 ≥7), need for blood transfusion, GIB severity, need for endoscopic therapy, and type of AT.

Design of a Highly Sensitive Photonic Crystal Fiber Sensor for Sulfuric Acid Detection.

In this research, a photonic crystal fiber (PCF)-based sulfuric acid detector is proposed and investigated to identify the exact concentration of sulfuric acid in a mixture with water. In order to calculate the sensing and propagation characteristics, a finite element method (FEM) based on COMSOL Multiphysics software is employed. The extensive simulation results verified that the proposed optical detector could achieve an ultra-high sensitivity of around 97.