Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

The Role of Hospital Performance on Race and Ethnicity Outcome Disparities for US Non-Traumatic Out-of-Hospital Cardiac Arrests.

Background: Factors contributing to worse outcomes for out-of-hospital cardiac arrests (OHCA) from minoritized communities are poorly understood. We sought to evaluate the impact of receiving hospital performance on OHCA outcome disparities.

Methods: We performed a retrospective cohort study of non-traumatic OHCAs from the National Cardiac Arrest Registry to Enhance Survival from 2013-2022 that survived hospital admission.

International Expert-Based Consensus Definition, Classification Criteria, and Minimum Data Elements for Osteoradionecrosis of the Jaw: An Inter-Disciplinary Modified Delphi Study.

Purpose: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 classification systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ.

Survivorship and Outcomes of Hip Arthroplasty for Elective Care Versus Fracture in Patients Who Have Solid Organ Transplant: Lung Transplant Patients Do Worse.

Background: With continued improvement in patient outcomes following solid organ transplant (SOT), more SOT recipients may benefit from hip arthroplasty. This study sought to compare the perioperative complications and survivorship of SOT recipients undergoing hip arthroplasty for elective care versus for fracture.

Methods: A single-institution retrospective review yielded 95 hip arthroplasty procedures (80 patients) performed between August 2016 and May 2023 with a mean follow-up of 35 months.

Beta-Blockers After PCI for Stable Coronary Artery Disease and Preserved Left Ventricular Ejection Fraction.

Background: Limited data exist on the long-term impact of beta-blocker therapy after percutaneous coronary intervention (PCI) in patients with stable coronary artery disease (CAD) and preserved left ventricular ejection fraction (LVEF).

Objectives: The aim of the study was to evaluate the effects of early beta-blocker initiation vs no initiation following PCI in patients with stable CAD and preserved LVEF.

Methods: This retrospective cohort study employed target trial emulation and incident user design, utilizing the TriNetx database (2009-2024).

The Quality of Veterans Healthcare Administration Cardiovascular Care.

A total of 9 million veterans receive care in a unique healthcare system, the Veterans Healthcare Administration (VHA), with nearly 50% reporting at least one cardiovascular disease. Despite evidence for high quality of health care in the VHA, more veteran care is being moved to the non-VHA community. An assumption of this shift in care is that the quality of non-VHA care is at least comparable to VHA care.

Longitudinal impact of impulsivity and sensation-seeking on vaping initiation: The moderating role of peer vaping.

Limited research indicates impulsivity and sensation-seeking are associated with electronic nicotine delivery systems (ENDS) use in young adulthood, however, no study has examined the moderating effect of peer ENDS use on these associations. We examined the impacts of impulsivity and sensation-seeking on ENDS use initiation and determined if peer ENDS use moderates these associations. Participants were 2,590 ENDS naïve (i.

New insights into gold nanoparticles in virology: A review of their applications in the prevention, detection, and treatment of viral infections.

Viral infections have led to the deaths of millions worldwide and come with significant economic and social burdens. Emerging viral infections, as witnessed with coronavirus disease 2019 (COVID-19), can profoundly affect all aspects of human life, highlighting the imperative need to develop diagnostic, therapeutic, and effective control strategies in response. Numerous studies highlight the diverse applications of nanoparticles in diagnosing, controlling, preventing, and treating viral infections.

Adverse outcomes in monochorionic twins with amniotic fluid abnormalities without TTTS: A Case-Control study.

Objective: Monochorionic diamniotic (MCDA) twins with amniotic fluid abnormalities that do not meet criteria for twin-twin transfusion syndrome (TTTS) concern physicians and families. This study aimed to describe the natural history of amniotic fluid abnormalities.

Methods: In this retrospective case-control study, TTTS screening ultrasounds and clinical records throughout all MCDA twin gestations were reviewed between 2018 and 2022 at a tertiary fetal care center.

Real-World Experience With Maribavir for Treatment of Refractory or Resistant Cytomegalovirus Infection in Hematopoietic Cell Transplant Recipients and Hematologic Malignancy Patients.

Background: Refractory and/or resistant (R/R) cytomegalovirus (CMV) infection is a serious complication after allogeneic hematopoietic cell transplantation (HCT). Maribavir, an oral antiviral agent, was approved in November 2021 for the treatment of R/R CMV in transplant recipients. However, real-world data on the use of maribavir in HCT recipients and hematologic malignancy (HM) patients are limited.

Pharmacologic Management of Heart Failure with Preserved Ejection Fraction (HFpEF) in Older Adults.

There are several pharmacologic agents that have been touted as guideline-directed medical therapy for heart failure with preserved ejection fraction (HFpEF). However, it is important to recognize that older adults with HFpEF also contend with an increased risk for adverse effects from medications due to age-related changes in pharmacokinetics and pharmacodynamics of medications, as well as the concurrence of geriatric conditions such as polypharmacy and frailty. With this review, we discuss the underlying evidence for the benefits of various treatments in HFpEF and incorporate key considerations for older adults, a subpopulation that may be at higher risk for adverse drug events.

Utility of Parent and Teacher Behavior Ratings for Self-Regulatory Outcomes of Preschool Children: A Multi-Study Examination.

Despite frequent reliance on teacher and parent ratings of children's behavior for multi-informant assessment, agreement between teachers' and parents' ratings is low. This study examined the predictive utility of teacher and parent ratings for children's self-regulatory outcomes (i.e.

Impact of Recent Translational and Therapeutic Developments on Clinical Course of BCR::ABL1-Positive and -Negative Myeloproliferative Neoplasms.

Despite the study of BCR::ABL1-positive and -negative myeloproliferative neoplasms (MPNs) providing seminal insights into cancer biology, tumor evolution and precision oncology over the past half century, significant challenges remain. MPNs are clonal hematopoietic stem cell-derived neoplasms with heterogenous clinical phenotypes and a clonal architecture which impacts the often-complex underlying genetics and microenvironment. The major driving molecular abnormalities have been well characterized, but debate on their role as disease-initiating molecular lesions continues.

The Association Between Father Support and Daughter Physical Activity: Insights From a Study Involving U.S. Latina Pre-Teens.

Purpose: Social support, particularly from family, is crucial for physical activity (PA) among youth. This study examined the association between father support and moderate-to-vigorous physical activity (MVPA) in Latina pre-teens and explored the moderating role of body mass index (BMI).

Design: Cross-sectional analysis.

New onset refractory status epilepticus: Long-term outcomes beyond seizures.

We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.

Response to neoadjuvant chemotherapy leads to better survival outcomes in upper tract urothelial carcinoma.

Objectives: To evaluate the benefit of neoadjuvant chemotherapy (NAC) for patients with high-risk upper tract urothelial carcinoma (UTUC) using a large, well-curated multi-institutional database.

Patients And Methods: This study was a multi-institutional retrospective analysis conducted by the UTUC Collaborative Network (UCAN), combining data from 2276 patients with UTUC who underwent radical nephroureterectomy at seven high-volume tertiary care centres in the United States. The UCAN data were analysed to evaluate the impact of response to NAC on survival outcomes in patients with UTUC.

Impacts of Ethical Dilemmas and Moral Distress in Pediatric Hematology Oncology Nurses.

Purpose: To assess the level of moral distress (MD) and perceptions of ethical climate among pediatric hematology/oncology (PHO) nurses and to identify bioethics topics where increased education was desired.

Methods: In this cross-sectional study, we administered the 26-item Swedish Moral Distress Scale-Revised (sMDS-R), specifically revised and validated for pediatric oncology, in conjunction with the Clinical Ethics Needs Assessment Survey (CENAS). Electronic surveys were sent to inpatient and outpatient PHO nurses.

Prevalence of and risk factors for osteoporosis and fragility fracture in adults with cerebral palsy: A systematic review.

Aim: To systematically review the prevalence and incidence of osteoporosis, osteopenia, low bone mass, and fragility fracture in adults with cerebral palsy (CP), and identify the risk factors for osteoporosis and fracture.

Method: A systematic literature search was performed in the MEDLINE, PubMed, CINAHL, AMED, Cochrane Reviews, EMBASE, and EBM database reviews from inception until May 2024. Search terms covered a combination of keywords for CP, fracture, osteoporosis, incidence and prevalence, and risk factors.

Nursing knowledge in cardio-oncology: results of an international learning needs-assessment survey.

Background: With early detection and improvements in systemic and local therapies, millions of people are surviving cancer, but for some at a high cost. In some cancer types, cardiovascular disease now competes with recurrent cancer as the cause of death. Traditional care models, in which the cardiologist or oncologist assess patients individually, do not address complex cancer and cardiovascular needs.

Catheter-directed therapy for pulmonary embolism in pediatrics: a systematic review and meta-analysis.

Background: Acute pulmonary embolism (PE) is a serious and potentially fatal condition that is relatively rare in the pediatric population. In patients presenting with massive/submassive PE, catheter-directed Therapy (CDT) presents an emerging therapeutic modality by which PE can be managed.

Methods: Electronic databases were systematically searched through May 2024.

Evaluation of macular retinal oximetry across different levels of diabetic retinopathy: a cross sectional study.

Background: This study evaluates retinal oxygen saturation and vessel density within the macula and correlates these measures in controls and subjects with type 2 diabetes (DM) with (DMR) and without (DMnR) retinopathy. Changes in retinal oxygen saturation have not been evaluated regionally in diabetic patients.

Methods: Data from seventy subjects (28 controls, 26 DMnR, and 16 DMR were analyzed.

The Impact of COVID-19 on the Division of Household Labor Among Women Physicians and Advanced Practice Providers.

Background: COVID-19 increased the burden of childcare on parents, leaving women vulnerable to increased disparities in the division of domestic labor. Women healthcare workers may be at heightened risk of worsening gender parity in the workplace as a result.

Objective: To examine the impact of the COVID-19 pandemic on gender parity in the division of household responsibilities among women healthcare workers.

Tucatinib and trastuzumab in HER2-mutated metastatic breast cancer: a phase 2 basket trial.

Human epidermal growth factor receptor 2 (HER2, also known as ERBB2) signaling promotes cell growth and differentiation, and is overexpressed in several tumor types, including breast, gastric and colorectal cancer. HER2-targeted therapies have shown clinical activity against these tumor types, resulting in regulatory approvals. However, the efficacy of HER2 therapies in tumors with HER2 mutations has not been widely investigated.