Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Background And Objectives: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).

Can the Bladder Itself "Measure" Volume, and Thereby Help to Determine When Initiation of Voiding Should Occur? ICI-RS 2024.

Aims: To answer the question of whether the bladder itself can to any extent control or modulate the initiation of voiding.

Methods: This subject was discussed at the International Consultation on Incontinence-Research Society (ICI-RS) 2024 conference in Bristol, UK in a proposal session.

Results: Cells in the bladder wall sense the local environment via a diverse array of ion channels and receptors which together provide input to motor-sensory and signal transduction mechanisms.

Feasibility of Alerting Systems and Family Care Partner Support for Postoperative Delirium Prevention.

Background: The objective of this study was to determine whether postoperative pager alerts to the Hospital Elder Life Program (HELP), a delirium prevention service, would accelerate program enrollment for older surgical patients. This study also tested feasibility of family care partner interventions for delirium prevention.

Methods: This single-center, pilot clinical trial factorially randomized 57 non-cardiac surgical patients ≥70 years of age to 4 arms: (1) standard care, (2) pager alerts to accelerate HELP enrollment, (3) family care partner-based delirium prevention interventions, or (4) a combined arm with both HELP and family interventions.

Enhancing thrombectomy outcomes with Adaptive Pulsatile Aspiration (APA): the role of complete clot ingestion in reducing thrombectomy time and distal embolization.

Background: Complete clot ingestion (CCI) is defined as full ingestion of the clot into the catheter or pump canister without any external clot remnants at the catheter tip. The aim of this study was to demonstrate that using the CCI metric in vitro, partially ingested ('corked') clots pose a higher risk of distal emboli given distal emboli may exist in the setting of Thrombolysis In Cerebral Infarction 3 (TICI 3) revascularization.

Methods: Thrombectomies using an in vitro synthetic clot analog were conducted across six catheters using the novel ALGO Smart Pump with Adaptive Pulsatile Aspiration (APA) (Von Vascular Inc, Sunrise, FL) and compared against the Penumbra static Engine Pump (Alameda, CA).

Adaptation of meaning-centered psychotherapy for healthcare providers to buffer work-induced distress and improve wellbeing.

Healthcare providers (HCPs) face high rates of distress, experienced as burnout, moral distress, compassion fatigue, and grief. HCPs are also experiencing a crisis in meaning whereby distress is associated with disconnection from meaning in work and, in turn, a lack of meaning in work can further perpetuate distress for HCPs. Although scalable systems-level solutions are needed to tackle multidimensional HCP distress, it is also necessary to address HCP suffering at individual, team, and institutional levels.

Consensus Recommendations for Studies of Outflow Facility and Intraocular Pressure Regulation Using Ex Vivo Perfusion Approaches.

Intraocular pressure (IOP) elevation is the primary risk factor and currently the main treatable factor for progression of glaucomatous optic neuropathy. In addition to direct clinical and living animal in vivo studies, ex vivo perfusion of anterior segments and whole eyes is a key technique for studying conventional outflow function as it is responsible for IOP regulation. We present well-tested experimental details, protocols, considerations, advantages, and limitations of several ex vivo model systems for studying IOP regulation.

Comprehensive Multidimensional Analysis of Metal(loid)-Containing Dust in Plastic Sports Facilities: Insights into the Potential Sources and Health Risks.

Dust released from widely established plastic sports courts and synthetic turf poses potential environmental and health risks. Herein, we systematically investigate the metal(loid) characteristics, potential sources, and health risks of 162 dust samples from 17 campuses in Beijing, using complementary analytical techniques. Bulk analysis revealed higher levels of Zn, Pb, Cu, Sb, Cd, and Cr than background values, suggesting excessive anthropogenic contamination.

Prevalence of Dirofilaria immitis in dogs in Jamaica.

Dirofilaria immitis is a zoonotic vector-borne parasite that causes heartworm disease most commonly in canines. Although present in the Caribbean, no published work exists from Jamaica. Therefore, the aim of our study was to evaluate the prevalence of D.

Human body donation programs best practices and recommended standards: A task force report from the American Association for Anatomy.

The American Association for Anatomy recently charged a task force with updating and expanding upon best practices and recommendations for human body donation programs. The task force comprised American Association for Anatomy members with specific and detailed knowledge about the legal, ethical, and procedural operations of body donation programs in the United States. The task force developed both foundational and aspirational recommendations.

Early-life exposure to PCBs and PFAS exerts negative effects on the developing central nervous system.

Persistent organic pollutants (POPs) are ubiquitous in the environment and display the capacity to bioaccumulate in living organisms, constituting a hazard to both wildlife and humans. Although restrictions have been applied to prohibit the production of several POPs since the 1960s, high levels of these compounds can still be detected in many environmental and biological matrices, due to their chemical properties and significantly long half-lives. Some POPs can be passed from mother to the fetus and can gain entry to the central nervous system (CNS), by crossing the blood-brain barrier (BBB), resulting in significant deleterious effects, including neurocognitive and psychiatric abnormalities, which may lead to long-term socio-economic burdens.

Multiomic profiling of chronically activated CD4+ T cells identifies drivers of exhaustion and metabolic reprogramming.

Repeated antigen exposure leads to T-cell exhaustion, a transcriptionally and epigenetically distinct cellular state marked by loss of effector functions (e.g., cytotoxicity, cytokine production/release), up-regulation of inhibitory receptors (e.

High-Throughput Drug Screening in Chondrosarcoma Cells Identifies Effective Antineoplastic Agents Independent of IDH Mutation.

The term chondrosarcoma refers to a rare and heterogeneous group of malignant cartilaginous tumors that are typically resistant to chemotherapy and radiotherapy. Metastatic chondrosarcoma has a poor prognosis, and effective systemic therapies are lacking. Isocitrate dehydrogenase (IDH) mutations represent a potential therapeutic target, but IDH inhibitors alone have shown limited clinical efficacy to date.

Ultra-Processed Food and Prostate Cancer Risk: A Systemic Review and Meta-Analysis.

Prostate cancer is the second leading cause of cancer death among American men, following lung cancer. While diet and exercise have been extensively studied in relation to prostate cancer prevention, the evidence remains inconclusive. : A comprehensive literature search was performed to identify observational studies investigating the association between ultra-processed food (UPF) consumption and prostate cancer risk and mortality, determined by the NOVA classification system.

Associations of cognitive test performance with self-reported mental health, cognition, and quality of life in adults with functional seizures: A systematic review and meta-analysis.

People with functional seizures (FS) have frequent and disabling cognitive dysfunction and mental health symptoms, with low quality of life. However, interrelationships among these constructs are poorly understood. In this meta-analysis, we examined associations between objective (i.

Veterans Affairs Military Toxic Exposure Research Conference: Veteran-centric Approach and Community of Practice.

The U.S. Sergeant First Class Heath Robinson Honoring our Promise to Address Comprehensive Toxics (PACT) Act expands benefits and services to U.

Routine machine quality assurance tests for a self-shielded gyroscopic radiosurgery system.

Purpose: This report describes routine machine quality assurance (QA) (daily, monthly, and annual QA) tests for the Zap-X Gyroscopic Radiosurgery platform.

Methods: Following the recommendations of the American Association of Physicists in Medicine Task Group (AAPM TG)-142 and Medical Physics Practice guideline (MPPG) 8.b, routine machine QA tests for the Zap-X system were implemented.

Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.

Purpose: Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic networks and molecular pathways that govern neurulation. This study aims to delineate genome-wide regulatory signatures underlying SB pathophysiology.

Network-based modelling reveals cell-type enriched patterns of non-coding RNA regulation during human skeletal muscle remodelling.

A majority of human genes produce non-protein-coding RNA (ncRNA), and some have roles in development and disease. Neither ncRNA nor human skeletal muscle is ideally studied using short-read sequencing, so we used a customized RNA pipeline and network modelling to study cell-type specific ncRNA responses during muscle growth at scale. We completed five human resistance-training studies ( = 144 subjects), identifying 61% who successfully accrued muscle-mass.

Ultrasound-guided transuterine coil embolization of a Vein of Galen malformation.

Vein of Galen malformations (VOGMs) are rare and complex congenital vascular anomalies that can lead to severe morbidity and mortality. Management predominantly focuses on postnatal endovascular interventions. However, these may not be feasible for fetuses with hemodynamic instability and high-output cardiac failure and may fail to prevent irreversible brain damage induced by prolonged compression by the venous varix, hemodynamic alterations and resultant potential ischemic injury.