Genome screening, reporting, and genetic counseling for healthy populations.

Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500).

Patient-Centered Care and Healthcare Consumerism in Online Healthcare Service Advertisements: A Positioning Analysis.

Patient-centered care and healthcare consumerism are the two most dominant ideas about the relationship between patients and providers in the United States. To identify providers' positions between the two perspectives, we analyzed the content of direct-to-consumer healthcare service advertisements. The advertisements were collected in the state of Nevada ( = 323) and their landing pages were analyzed for provider attributes, patient experience features, and terms referring to patients and providers.

Spillover benefit of pre-exposure prophylaxis for HIV prevention: evaluating the importance of effect modification using an agent-based model.

We developed an agent-based model using a trial emulation approach to quantify effect measure modification of spillover effects of pre-exposure prophylaxis (PrEP) for HIV among men who have sex with men (MSM) in the Atlanta-Sandy Springs-Roswell metropolitan area, Georgia. PrEP may impact not only the individual prescribed, but also their partners and beyond, known as spillover. We simulated a two-stage randomised trial with eligible components (≥3 agents with ≥1 HIV+ agent) first randomised to intervention or control (no PrEP).

Alternating regimes of shallow and deep-sea diversification explain a species-richness paradox in marine fishes.

The deep sea contains a surprising diversity of life, including iconic fish groups such as anglerfishes and lanternfishes. Still, >65% of marine teleost fish species are restricted to the photic zone <200 m, which comprises less than 10% of the ocean's total volume. From a macroevolutionary perspective, this paradox may be explained by three hypotheses: 1) shallow water lineages have had more time to diversify than deep-sea lineages, 2) shallow water lineages have faster rates of speciation than deep-sea lineages, or 3) shallow-to-deep sea transition rates limit deep-sea richness.

Clinician Diagnostic Certainty and the Role of the Autism Diagnostic Observation Schedule in Autism Spectrum Disorder Diagnosis in Young Children.

Importance: Autism spectrum disorder (ASD) affects 1 in 44 children. The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured observation developed for use in research but is considered a component of gold standard clinical diagnosis. The ADOS adds time and cost to diagnostic assessments.

Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.

Background: The randomized, double-blind OlympiA trial compared 1 year of the oral poly(adenosine diphosphate-ribose) polymerase inhibitor, olaparib, to matching placebo as adjuvant therapy for patients with pathogenic or likely pathogenic variants in germline BRCA1 or BRCA2 (gBRCA1/2pv) and high-risk, human epidermal growth factor receptor 2-negative, early breast cancer (EBC). The first pre-specified interim analysis (IA) previously demonstrated statistically significant improvement in invasive disease-free survival (IDFS) and distant disease-free survival (DDFS). The olaparib group had fewer deaths than the placebo group, but the difference did not reach statistical significance for overall survival (OS).

Secondary Headache Disorders: Approach, Workup, and Special Considerations for Select Populations.

Headache is one of the most common diagnoses in neurology. A thorough understanding of the clinical presentation of secondary headache, which can be life-threatening, is critical. This review provides an overview of the diagnostic approach to a patient with headache, including discussion of "red," "orange," and "green" flags.

Neutralizing Antibody Responses Among Residents and Staff of Long-Term Care Facilities in the State of New Jersey During the First Wave of the COVID-19 Pandemic.

Expanding a previous study of the immune response to SARS-CoV-2 in 10 New Jersey long-term care facilities (LTCFs) during the first wave of the pandemic, this study characterized the neutralizing antibody (NAb) response to infection and vaccination among residents and staff. Sera from the original study were tested using the semi-quantitative enzyme-linked immunosorbent cPass neutralization-antibody detection assay. Almost all residents (97.

The PSR13, a tool for evaluating patient-perceived recovery after vaginal prolapse repair surgery.

Introduction And Hypothesis: Surgical recovery is the return to preoperative functional, psychologic, and social activity, or a return to normalcy. To date, little is known about the global post-surgical recovery experience from the patients' perspective. The aim of this study was to validate the Post-Discharge Surgical Recovery scale 13 (PSR13) in women undergoing vaginal prolapse repair procedures and evaluate the patient-perceived postoperative recovery experience over a 12-week period.

Exploring the Impact of The NEST Collaborative's Remote Social Intervention on Feelings of Depression and Isolation.

Early evidence of remote, volunteer-led social support interventions to reduce social isolation in older adults has been encouraging; however, evaluation data on outcomes related to social isolation associated from these interventions is scarce. Here, we share programmatic details of a novel, statewide initiative, called the NEST Collaborative, rolled out to meet immediate emotional, informational, and instrumental needs of older adults in Nevada during the COVID-19 pandemic. The evaluation included 31 older adults participating in weekly one-to-one empathy-based phone calls with multi-generational volunteers seeking to enhance participants' social networks through meaningful friendships.

Skeletal Muscle Manifestations and Creatine Kinase in COVID-19.

Background And Purpose: Skeletal muscle symptoms and elevated creatine kinase (CK) levels have been consistently reported as part of the COVID-19 disease process. Previous studies have yet to show a consistent relationship between CK levels and skeletal muscle symptoms, disease severity, and death from COVID-19. The purpose of this study is to determine whether elevated CK is associated with a COVID-19 course requiring intubation, intensive care, and/or causing death.

Birth cohort hepatitis C antibody prevalence in real-world screening settings in Ontario.

Background: Widespread screening and treatment of hepatitis C virus (HCV) is required to decrease late-stage liver disease and liver cancer. Clinical practice guidelines and Canadian Task Force on Preventative Health Care recommendations differ on the value of one-time birth cohort (1945-75) HCV screening in Canada. To assess the utility of this approach, we conducted a real-world analysis of HCV antibody (Ab) prevalence among birth cohort individuals seen in different clinical contexts.

Targeting Krebs-cycle-deficient renal cell carcinoma with Poly ADP-ribose polymerase inhibitors and low-dose alkylating chemotherapy.

Loss-of-function mutations in genes encoding the Krebs cycle enzymes Fumarate Hydratase () and Succinate Dehydrogenase () induce accumulation of fumarate and succinate, respectively and predispose patients to hereditary cancer syndromes including the development of aggressive renal cell carcinoma (RCC). Fumarate and succinate competitively inhibit αKG-dependent dioxygenases, including Lysine-specific demethylase 4A/B (KDM4A/B), leading to suppression of the homologous recombination (HR) DNA repair pathway. In this study, we have developed new syngeneic - and -deficient murine models of RCC, which demonstrate the expected accumulation of fumarate and succinate, alterations in the transcriptomic and methylation profile, and an increase in unresolved DNA double-strand breaks (DSBs).

Virtually Assisted Personalized Tracheostomy Tube Design in Pediatric Complex Airway Anomalies.

We sought to assess the feasibility of virtually assisted personalized tracheostomy tube (vapTT) implementation for patients with congenital airway anomalies (CAAs) and persistent tracheostomy tube (TT)-related respiratory failure at a tertiary pediatric hospital. Three patients (0-18 years) with CAAs and recurrent TT-related respiratory complications were managed with vapTT over 5 years. Patients underwent airway computed tomography acquisition with 3-dimensional reconstruction and TT virtual modeling for shape customization.

FASN inhibition targets multiple drivers of NASH by reducing steatosis, inflammation and fibrosis in preclinical models.

Fatty acid synthase (FASN) is an attractive therapeutic target in non-alcoholic steatohepatitis (NASH) because it drives de novo lipogenesis and mediates pro-inflammatory and fibrogenic signaling. We therefore tested pharmacological inhibition of FASN in human cell culture and in three diet induced mouse models of NASH. Three related FASN inhibitors were used; TVB-3664, TVB-3166 and clinical stage TVB-2640 (denifanstat).

Lateral annular systolic excursion ratio: A novel measurement of right ventricular systolic function by two-dimensional echocardiography.

Introduction: Accurate assessment of right ventricular (RV) systolic function has prognostic and therapeutic implications in many disease states. Echocardiography remains the most frequently deployed imaging modality for this purpose, but estimation of RV systolic function remains challenging. The purpose of this study was to evaluate the diagnostic performance of a novel measurement of RV systolic function called lateral annular systolic excursion ratio (LASER), which is the fractional shortening of the lateral tricuspid annulus to apex distance, compared to right ventricular ejection fraction (RVEF) derived by cardiac magnetic resonance imaging (CMR).

Implementing Psychological First Aid for Healthcare Workers During the COVID-19 Pandemic: A Feasibility Study of the ICARE Model.

Maintaining the resilience of healthcare workers (HCWs) during the protracted COVID-19 pandemic is critical as chronic stress is associated with burnout, inability to provide high-quality care, and decreased attentiveness to infection prevention protocols. Between May and July 2020, we implemented the ICARE model of psychological first aid (PFA) in a novel online (i.e.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

Purpose: PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL).

An evidence-based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling.

There are currently no practice guidelines available for genetic counseling using telehealth modalities. This evidence-based practice guideline was developed in response to increasing use of alternative service delivery models for genetic counseling, specifically telephone and video-based genetic counseling (telehealth genetic counseling or THGC). A recent systematic evidence review (SER) compared outcomes of THGC with in-person genetic counseling and found that for the majority of studied outcomes, THGC was a non-inferior and comparable service delivery model.