The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.

Feasibility study of a telehealth school-based behavioral parent training group program for attention-deficit/hyperactivity disorder.

Objective: To evaluate the feasibility and preliminary efficacy of Telehealth Behavioral Parent Training (T-BPT), a school telehealth group intervention for attention-deficit/hyperactivity disorder (ADHD) with a companion training program for school clinicians.

Methods: T-BPT was developed in an iterative three-phase design in partnership with community stakeholders during the COVID-19 pandemic. School clinicians (N = 4) delivered T-BPT over 8 weeks to parents (N = 21, groups of 5-6 per school) of children (Grades 2-5) with ADHD while simultaneously receiving training and consultation from PhD-level study trainers.

Experimental measurements of the granular density of modes via impact.

The jamming transition is an important feature of granular materials, with prior work showing an excess of low-frequency modes in the granular analog to the density of states, the granular density of modes. In this work, we present an experimental method for acoustically measuring the granular density of modes using a single impact event to excite vibrational modes in an experimental, three-dimensional, granular material. We test three different granular materials, all of which are composed of spherical beads.

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by the ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.

Sociodemographic and Socioeconomic Factors Correlate with Late-Stage Pediatric Hodgkin Lymphoma and Rhabdomyosarcoma: A Report from the Children's Oncology Group Registries.

Background: We examined the association between late-stage diagnosis and individual- and community-level sociodemographic and socioeconomic characteristics among patients with pediatric Hodgkin lymphoma and rhabdomyosarcoma (RMS).

Methods: We obtained Children's Oncology Group data from 1999 to 2021 including summary stage [local (L), regional (R), and distant (D)], tumor subtype, demographics, and ZIP Code at diagnosis. We linked ZIP Codes to county-level redlining scores (C, D = greatest redlining), the Child Opportunity Index, and measures of segregation (racial dissimilarity indices).

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.

Introduction: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.

Emotion Regulation and Organizational Skills in Children With ADHD Symptoms Are Associated With Behavioral Parent Training Adherence.

Objective: Behavioral parent training (BPT) is a well-established treatment for ADHD; however, treatment response is variable. Consistency in parent skill use during BPT is known to influence child outcomes post-treatment, while less research has focused on specific child factors that may be impacting parent skill utilization during treatment. The current study examined associations between child organizational skills and emotion dysregulation (ED) with parent treatment adherence during BPT and post-treatment child impairment.

Improving Clinical Wait Times in a Veterans Affairs' Urologic Setting.

Long clinic wait times can contribute to treatment delays and decreased patient satisfaction. Veterans are often waiting in the urology clinic for a prolonged period that delays treatments including possible surgical interventions leading to patient dissatisfaction. The purpose of this quality improvement project was to decrease the overall procedural wait times in an outpatient urology clinic by implementing a Fast-Track procedural clinic.

The gene expression profile and cell of origin of canine peripheral T-cell lymphoma.

Background: Peripheral T-cell lymphoma (PTCL) refers to a heterogenous group of T-cell neoplasms with poor treatment responses and survival times. Canine PTCL clinically and immunophenotypically resembles the most common human subtype, PTCL-not otherwise specified (PTCL-NOS), leading to interest in this canine disease as a naturally occurring model for human PTCL. Gene expression profiling in human PTCL-NOS has helped characterize this ambiguous diagnosis into distinct subtypes, but similar gene expression profiling in canine PTCL is lacking.

Parental Cognitions, Treatment Engagement, and Child Outcomes of ADHD Behavioral Treatment among Asian American Families.

Asian American (AA) families remain critically underrepresented in clinical trials for ADHD interventions. Little is known about AA families' engagement in and outcomes of behavioral treatment (BT). Comparing AA families to other minoritized (OM) families and White families, this study examined parental cognitions, treatment engagement, and child outcomes of BT for ADHD inattentive type (ADHD-I).

Assessment of forces during side-posture adjustment with the use of a table-embedded force plate: Reference values for education.

Objective: Force-sensing treatment tables are becoming more commonly used by chiropractic educational institutions. However, when a table-embedded force platform is the sole measurement method, there is little information available about what force-time values instructors and students should expect for side-posture spinal manipulative thrusts. The purpose of this report is to provide force-time values recorded with such a system during side-posture manipulation with human recipients.

The role of feedback and modulation in determining temperature resiliency in the lobster cardiac nervous system.

Changes in ambient temperature affect all biological processes. However, these effects are process specific and often vary non-linearly. It is thus a non-trivial problem for neuronal circuits to maintain coordinated, functional output across a range of temperatures.

Angular Kinematics of Chiropractic Supine Cervical Spine Manipulation: Rotational Measures and Comparisons to Doctor and Recipient Perceptions.

Objectives: The primary purposes of this study were to measure axial rotation during supine cervical spinal manipulative therapy (cSMT) and to record recipients' and doctors' perceptions of rotational magnitudes.

Methods: Experienced doctors of chiropractic (DCs) provided supine cSMT and acted as recipients of cSMT. Participants who received SMT wore inertial measurement units attached to the forehead and sternum for motion capture.