Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.

Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder, but its genetic architecture remains incompletely characterized. Rare coding variants, which can profoundly impact gene function, represent an underexplored dimension of ADHD risk. In this study, we analyzed large-scale DNA sequencing datasets from ancestrally diverse cohorts and observed significant enrichment of rare protein-truncating and deleterious missense variants in highly evolutionarily constrained genes.

Developing Competencies and Milestones: Putting the Pieces Together for Student Success.

Competency-based medical education has become a means in physician assistant (PA) education to ensure learner readiness for practice; align educational expectations; and assess knowledge, skills, and attitudes. Competency-based education may also serve to meet accreditation requirements. Creating program-defined competencies and associated milestones can help a PA program align with their mission and vision, developmentally guide learners through the curriculum, and ensure program assessments measure the tasks required of practice-ready graduates.

Is Bone Marrow Trephine Biopsy Necessary in Multiple Myeloma Patients at Diagnosis?

Multiple myeloma (MM) diagnosis requires ≥10% plasma cell (PC) infiltration in the bone marrow (BM), detected by bone marrow aspiration (BMA) or biopsy (BMB). We evaluated the concordance of these 2 techniques in 189 patients. In 43 cases (23%), the techniques were discordant, 10 due to poor sample quality.

Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus.

Background: Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat exacerbations, a potential outcome for research and clinical trials.

Methods: We set up an expert panel of 24 ear-nose-throat specialists, respiratory physicians, other healthcare professionals and patients to develop consensus definitions of sinonasal and otological exacerbations in children and adults with primary ciliary dyskinesia for research settings.

MRI findings in patients with psychogenic non-epileptic seizures: Prevalence, distribution, and classification of the findings. A single tertiary epilepsy center experience.

Objective: Psychogenic non-epileptic seizures (PNES) mimic epileptic seizures without electroencephalographic correlation. Although classified as psychiatric disorders, their neurobiological or structural basis remains unclear. This study aimed to assess the prevalence and characteristics of MRI abnormalities in patients with PNES and those with comorbid epilepsy, compared to the general population, to enhance radiological evaluation and management.