Huntington Study Group's Neuropsychology Working Group: Implementing Non-Motor Diagnostic Criteria.

Background: The clinical diagnosis of manifest Huntington's disease (HD) relies on a high level of clinical confidence (99% confidence) of HD-consistent motor signs. Longitudinal data have reliably identified cognitive and behavioral dysfunction predating clinical motor diagnosis by up to 15 years. Reliance on motor signs to establish a diagnosis of HD increases risk of early misdiagnosis or delayed diagnosis.

Health-related quality of life and recovery capital among recovery residents taking medication for opioid use disorder in Texas.

Background: Recovery from opioid use disorder (OUD) includes improvements in health-related quality of life (HRQOL) and is supported by recovery capital (RC). Little is known about RC and HRQOL among recovery residents taking medication for OUD. We described HRQOL and RC and identified predictors of HRQOL.

Partnering with Patients and Families to Improve Diagnostic Safety through the OurDX Tool: Effects of Race, Ethnicity, and Language Preference.

Background: Patients and families at risk for health disparities may also be at higher risk for diagnostic errors but less likely to report them.

Objectives: This study aimed to explore differences in race, ethnicity, and language preference associated with patient and family contributions and concerns using an electronic previsit tool designed to engage patients and families in the diagnostic process (DxP).

Methods: Cross-sectional study of 5,731 patients and families presenting to three subspecialty clinics at an urban pediatric hospital May to December 2021 who completed a previsit tool, codeveloped and tested with patients and families.

Self-Sampling for Human Papillomavirus Testing: Acceptability in a U.S. Safety Net Health System.

Introduction: Self-sampling for human papillomavirus testing is increasingly recognized as a strategy to expand cervical cancer screening access and utilization. Acceptability is a key determinant of uptake. This study assesses the acceptability of and experiences with mailed self-sampling kits for human papillomavirus testing among underscreened patients in a safety net health system.

Association Between Symptoms of Chronic Psychological Distress and Myocardial Ischemia Induced by Mental Stress in Patients With Coronary Artery Disease.

Background Mental stress-induced myocardial ischemia is a frequent phenomenon in patients with coronary artery disease and is associated with a greater risk of future cardiovascular events. The association between chronic symptoms of psychological distress and mental stress-induced ischemia is not clear. Methods and Results We used a composite score of psychological distress derived from symptoms of depression, posttraumatic stress disorder, anxiety, anger, and perceived general stress.

C2H2 Zinc Finger Transcription Factors Associated with Hemoglobinopathies.

In humans, specific aberrations in β-globin results in sickle cell disease and β-thalassemia, symptoms of which can be ameliorated by increased expression of fetal globin (HbF). Two recent CRISPR-Cas9 screens, centered on ∼1500 annotated sequence-specific DNA binding proteins and performed in a human erythroid cell line that expresses adult hemoglobin, uncovered four groups of candidate regulators of HbF gene expression. They are (1) members of the nucleosome remodeling and deacetylase (NuRD) complex proteins that are already known for HbF control; (2) seven C2H2 zinc finger (ZF) proteins, including some (ZBTB7A and BCL11A) already known for directly silencing the fetal γ-globin genes in adult human erythroid cells; (3) a few other transcription factors of different structural classes that might indirectly influence HbF gene expression; and (4) DNA methyltransferase 1 (DNMT1) that maintains the DNA methylation marks that attract the MBD2-associated NuRD complex to DNA as well as associated histone H3 lysine 9 methylation.

Two-year outcomes of temperature-controlled radiofrequency device treatment of the nasal valve for patients with nasal airway obstruction.

Background: The objective of this study was to evaluate long-term symptom improvements in patients with nasal airway obstruction (NAO) secondary to nasal valve collapse (NVC) following minimally invasive temperature-controlled radiofrequency (TCRF) treatment.

Methods: A prospective, single-arm, multicenter study in patients >18 years with NAO due to NVC. Inclusion criteria were response to nasal valve dilation (e.

Endothelial Dysfunction and Cardiometabolic Risk Factors in Mexican American Adults: The Cameron County Hispanic Cohort.

Endothelial dysfunction assessed by impaired brachial flow-mediated dilation (FMD) predicts incident cardiovascular disease (CVD). We have previously shown that clustering of diabetes mellitus, obesity, and metabolic syndrome in young Hispanic patients was associated with subclinical atherosclerosis. This study aimed to assess determinants of impaired FMD response (%FMD), an earlier marker of atherosclerosis, in a population-based sample of asymptomatic Mexican Americans.

Cytosolic DNA sensing protein pathway is activated in human hearts with dilated cardiomyopathy.

Introduction: The genome is constantly exposed to numerous stressors, which induce DNA lesions, including double-stranded DNA breaks (DSBs). DSBs are the most dangerous, as they induce genomic instability. In response to DNA damage, the cell activates nuclear DNA damage response (DDR) and the cytosolic DNA sensing protein (CDSP) pathways, the latter upon release of the DSBs to the cytosol.

A case of combined pulmonary vein isolation (PVI) and watchman implant through hepatic vein in a patient with interrupted inferior vena cava (IVC).

This case report describes a successful procedure involving pulmonary vein isolation (PVI) and left atrial appendage (LAA) closure with a watchman device in a 78-year-old male with atrial fibrillation and an interrupted inferior vena cava. Due to the vascular anomaly, a transhepatic approach was used, which proved successful.

Impact of disclosure of radiographic test results on quality of life among patients with hernias: a randomized controlled trial.

Purpose: Hernias noted on radiographic imaging are common. We aimed to determine if informing patients of the presence of a clinically apparent or occult hernia on imaging would change their abdominal wall quality of life (AW-QOL).

Methods: This study was registered on clinicaltrials.

Establishing a pediatric acute stroke protocol: experience of a new pediatric stroke program and predictors of acute stroke.

Introduction: Pediatric stroke is among the top 10 causes of death in pediatrics. Rapid recognition and treatment can improve outcomes in select patients, as evidenced by recent retrospective studies in pediatric thrombectomy. We established a collaborative protocol involving the vascular neurology and pediatric neurology division in our institution to rapidly diagnose and treat pediatric suspected stroke.

Transformative care for people with disabilities: Empowering senior nursing students with competency based clinical education-A qualitative study of the impact.

Background: People with disabilities (PWD) constitute 26 % of the U.S. population yet no nursing schools have compulsory clinical education specific to PWD.

Lessons Learned From Interdisciplinary Efforts to Combat COVID-19 Misinformation: Development of Agile Integrative Methods From Behavioral Science, Data Science, and Implementation Science.

Background: Despite increasing awareness about and advances in addressing social media misinformation, the free flow of false COVID-19 information has continued, affecting individuals' preventive behaviors, including masking, testing, and vaccine uptake.

Objective: In this paper, we describe our multidisciplinary efforts with a specific focus on methods to (1) gather community needs, (2) develop interventions, and (3) conduct large-scale agile and rapid community assessments to examine and combat COVID-19 misinformation.

Methods: We used the Intervention Mapping framework to perform community needs assessment and develop theory-informed interventions.

The associations between physical activity, health-related quality of life, regimen adherence, and glycemic control in adolescents with type 1 diabetes: A cross-sectional study.

Background: Adolescents with Type 1 Diabetes (T1D) display a greater than two-fold higher risk of developing diabetes-related complications compared with their healthy peers and the risk increases markedly as glycated hemoglobin (HbA1c) increases. The majority of the known factors associated with improved glycemic control in adolescents with T1D are geared toward Western populations. Therefore, this study examined the associations between Physical Activity (PA), Health-Related Quality of Life (HRQoL), and regimen adherence on glycemic control in a Middle Eastern population of adolescents with T1D METHODS: The study utilized a cross-sectional design of Jordanian adolescents (aged 12-18) with T1D (n = 74).

Measurement of Perceived Risk of Developing Diabetes Mellitus: A Systematic Literature Review.

Background: This systematic review describes approaches to measuring perceived risk of developing type 2 diabetes among individuals without diagnoses and describes the use of theories, models, and frameworks in studies assessing perceived risk. While a systematic review has synthesized perceived risk of complications among individuals with diabetes, no reviews have systematically assessed how perceived risk is measured among those without a diagnosis.

Methods: Medline, PubMed, PsycINFO, and CINAHAL databases were searched for studies conducted through October 2022 with measures of perceived risk among adults ≥ 18 years without a diabetes diagnosis.

Synchronous Presentation of Right Parotid Branchial Cleft Cyst and Left Neck HPV-Associated Cystic Metastatic Squamous Cell Carcinoma: A Diagnostic Quandary.

Branchial cleft cyst arising within the parotid space is considered an extremely rare phenomenon. In contrast, cystic squamous cell carcinoma in the lateral neck is not an uncommon presentation of HPV-related head and neck cancer. Although they have singly been narrated in literature, simultaneous expression of these anomalies has yet to be reported.

Infected Ruptured Parathyroid Cyst Presenting with Hypercalcemia and Airway Obstruction: A Case Report.

Parathyroid cysts (PC) are infrequently encountered and characterize less than 1% of all head and neck masses. When present, PCs may present as a palpable neck mass and lead to hypercalcemia and rarely respiratory depression. Furthermore, the diagnostics of PCs is difficult as they can masquerade as a thyroid or mediastinal mass given their proximity.

Delayed versus primary sternal closure for left ventricular assist device implantation: Impact on mechanical circulatory support infections.

Background: Delayed sternal closure may be required after left ventricular assist device (LVAD) implantation due to coagulopathy or hemodynamic instability. There is conflicting data regarding infection risk.

Methods: We performed a single-center, retrospective analysis of patients who received their first LVAD between May 2012 and January 2021.

Bending the patient safety curve: how much can AI help?

This paper reviews the current state of patient safety and the application of artificial intelligence (AI) techniques to patient safety. This paper defines patient safety broadly, not just inpatient care but across the continuum of care, including diagnostic errors, misdiagnosis, adverse events, injuries, and measurement issues. It outlines the major current uses of AI in patient safety and the relative adoption of these techniques in hospitals and health systems.