Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

High peripheral T cell diversity is associated with lower risk of toxicity and superior response to dual immune checkpoint inhibitor therapy in patients with metastatic NSCLC.

Introduction: Despite significant successes, immune checkpoint blockade fails to achieve clinical responses in a significant proportion of patients, predictive markers for responses are imperfect and immune-related adverse events (irAEs) are unpredictable. We used T-cell receptor (TCR) sequencing to systematically analyze prospectively collected patient blood samples from a randomized clinical trial of dual immune checkpoint inhibitor therapy to evaluate changes in the T-cell repertoire and their association with response and irAEs.

Methods: Patients with immunotherapy-naïve metastatic non-small cell lung cancer (NSCLC) were treated with ipilimumab and nivolumab according to trial protocol (LONESTAR, NCT03391869).

Interprofessional health care students' confidence toward addressing the social determinants of health for older adults through telehealth.

There has been a call to action to integrate the Social Determinants of Health (SDoH) into health care education including interprofessional education. This brief describes a large-scale online interprofessional educational curriculum where students focus on SDoH of older adults through patient-centered, collaborative telehealth experiences. The curriculum was delivered to students ( = 417) from 17 programs within the Colleges of Health Sciences, Medicine, and Nursing at a large Midwestern academic medical center.

Multiregional transcriptomic profiling provides improved prognostic insight in localized non-small cell lung cancer.

Lung Cancer remains the leading cause of cancer deaths in the USA and worldwide. Non-small cell lung cancer (NSCLC) harbors high transcriptomic intratumor heterogeneity (RNA-ITH) that limits the reproducibility of expression-based prognostic models. In this study, we used multiregional RNA-seq data (880 tumor samples from 350 individuals) from both public (TRACERx) and internal (MDAMPLC) cohorts to investigate the effect of RNA-ITH on prognosis in localized NSCLC at the gene, signature, and tumor microenvironment levels.

Early warning COVID-19 outbreak in long-term care facilities using wastewater surveillance: correlation, prediction, and interaction with clinical and serological statuses.

Background: The unprecedented COVID-19 pandemic has highlighted the strategic value of wastewater-based surveillance (WBS) of SARS-CoV-2. This multisite 28-month-long study focused on WBS for older residents in 12 long-term care facilities (LTCFs) in Edmonton (AB, Canada) by assessing relationships between COVID-19, WBS, and serostatus during the pandemic.

Methods: Wastewater samples collected two to three times per week were tested for SARS-CoV-2 using RT-quantitative PCR.

Volatile organic compound analysis of malignant pleural mesothelioma chorioallantoic membrane xenografts.

Malignant pleural mesothelioma (MPM) is an aggressive cancer associated with asbestos exposure. MPM is often diagnosed late, at a point where limited treatment options are available, but early intervention could improve the chances of successful treatment for MPM patients. Biomarkers to detect MPM in at-risk individuals are needed to implement early diagnosis technologies.

Short report: Do parents use asynchronous materials in a hybrid coaching via telehealth intervention?

Using telehealth to provide services to families and children with autism has grown since the start of the COVID-19 pandemic. Yet, we still know less about telehealth models that use both virtual sessions and online materials to support families. Research suggests it is important to make sure an intervention matches the characteristics of a child with autism, but fewer studies have examined the importance of matching an intervention to parent characteristics.

The Interaction of a Gemini Surfactant with a DNA Quadruplex.

DNA secondary structures are stabilized by mono- and divalent cations. To examine the stability of the DNA quadruplex formed from (TTAGGG), its interaction with a dicationic Gemini surfactant in standard phosphate buffer was investigated. The Gemini surfactant begins to form micelles in buffer at a (critical micelle concentration) of 1.

Clonal evolution of hematopoietic stem cells after cancer chemotherapy.

Normal hematopoietic stem and progenitor cells (HSPCs) inherently accumulate somatic mutations and lose clonal diversity with age, processes implicated in the development of myeloid malignancies . The impact of exogenous stressors, such as cancer chemotherapies, on the genomic integrity and clonal dynamics of normal HSPCs is not well defined. We conducted whole-genome sequencing on 1,032 single-cell-derived HSPC colonies from 10 patients with multiple myeloma (MM), who had undergone various chemotherapy regimens.

Biomarker Predictors of Clinical Efficacy of the Anti-IgE Biologic Omalizumab in Severe Asthma in Adults: Results of the SoMOSA Study.

The anti-IgE monoclonal antibody omalizumab is widely used for severe asthma. This study aimed to identify biomarkers that predict clinical improvement during 1 year of omalizumab treatment. One-year open-label Study of Mechanisms of action of Omalizumab in Severe Asthma (SoMOSA) involving 216 patients with severe (Global Initiative for Asthma step 4/5) uncontrolled atopic asthma (at least two severe exacerbations in the previous year) taking high-dose inhaled corticosteroids and long-acting β-agonists with or without maintenance oral corticosteroids.

Flourishing and Functional Difficulties among Autistic Youth: A Confirmatory Factor Analysis.

The International Classification of Functioning, Disability, and Health for Children and Youth outlines body structures and functions and activities and participation to fully describe elements that support or detract from participation. While flourishing has gained attention in recent literature, research also points to the role of functional difficulties among autistic youth in influencing participation. Clearly, function is a multi-dimensional and complex construct and likely consists of both indicators of flourishing and functional difficulties.

Initial characterization of print awareness in unhoused children.

This study provides an initial understanding of print awareness, a foundational literacy skill, in a group of 12 unhoused children at two shelters in a large urban setting. Children ranged in age from 4;1 to 8;0, representing grades associated with learning to read (i.e.

Development and Validation of Telehealth Competency Questionnaire-Provider.

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Race and Ethnicity Reporting in Occupational Therapy Research Among Autistic Youth.

Historically marginalized racial and ethnic groups are underrepresented in autism research broadly; however, patterns of inclusion in occupational therapy research are unknown.In this secondary data analysis, we examined race and ethnicity reporting across articles included in a systematic review of evidence related to occupational therapy practice with autistic individuals <18 years (2013-2021).Two team members reached >90% interrater coding agreement in race and ethnicity reporting across articles in ADLs/IADLs, education/work, play, sleep, and social participation in clinics, homes/communities, and schools.

Telehealth Competency Questionnaire-Consumer: Psychometric Validation of a Client-centered Measure.

To effectively access telehealth services, individuals must possess certain competencies; yet, telehealth consumer focused measures are limited. The purpose of this study was to describe the development and validation of the Telehealth Competency Questionnaire - Consumer (TCQ-C). Among a sample of adults with chronic health conditions (n=134), findings showed that the TCQ-C is comprised of one factor that accounts for 66.

Use of Perioperative Advanced Practice Providers to Reduce Cost and Readmission in the Postoperative Hepatopancreatobiliary Population: Results of a Simulation Study.

Background: Postoperative healthcare use and readmissions are common among the hepatopancreatobiliary (HPB) population. We evaluated the surgical volume required to sustain advanced practice providers (APPs) in the perioperative setting for cost reduction.

Study Design: Using decision analysis modeling, we evaluated costs of employing dedicated perioperative APP navigators compared with no APPs navigators.

Interventions to Support Social Participation for Autistic Children and Adolescents in Schools (2013-2021).

Systematic review briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association's Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings to support social participation in school contexts for autistic1 children and adolescents (birth to 18 yr).

Clinic-Based Interventions to Support Social Participation for Autistic Children and Adolescents (2013-2021).

Systematic review briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association's Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings from clinic-based studies to support social participation for autistic1 children and adolescents (birth to 18 yr).

Interventions to Support Social Participation for Autistic Children and Adolescents in Homes and Communities (2013-2021).

Systematic review briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association's Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings to support social participation for autistic1 children and adolescents (birth to 18 yr) in homes and communities.

Complete loss of and is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma.

Rhabdomyosarcoma accounts for roughly 1% of adult sarcomas, with pleomorphic rhabdomyosarcoma (PRMS) as the most common subtype. Survival outcomes remain poor for patients with PRMS, and little is known about the molecular drivers of this disease. To better characterize PRMS, we performed a broad array of genomic and immunostaining analyses on 25 patient samples.

Interventions to Support Participation in Sleep for Autistic Children and Adolescents (2013-2021).

Systematic Review Briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association's Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings from the systematic review on interventions to support participation in sleep for autistic1 children and adolescents (birth to 18 yr).

Interventions to Support Participation in Education for Autistic Students (2013-2021).

Systematic Review Briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association's Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings from the systematic review on interventions to support autistic1 children and youth (up to 18 yr old) and focuses on participation in education settings.