SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Community Participation in Native American and White Individuals After Traumatic Brain Injury: A 5-Year Longitudinal Model Systems Study.

Purpose/objective: This study examined (a) differences in demographic and injury-related characteristics following traumatic brain injury (TBI) between Native American and White individuals; (b) differences in community participation between Native American and White individuals with TBI at 1, 2, and 5 years after TBI; and (c) whether demographic or injury-related characteristics account for community participation disparities.

Research Method/design: A sample of 63 Native American individuals demographically matched to 63 White individuals (n = 126) was enrolled while on acute rehabilitation for moderate or severe TBI. Baseline demographic and injury-related characteristics were collected at this time and the Participation Assessment with Recombined Tools (PART-O) measure of community participation at 1, 2, and 5 years after TBI.

Marital Stability During the Year After Traumatic Brain Injury in an Ecuadorian Sample: A Repeated-Measures Study.

Traumatic brain injury (TBI) is a major cause of death and disability worldwide and often leads to long-lasting emotional, physical, and cognitive changes and results in reduced functioning across multiple domains. These changes often lead to strain in marital relationships as the uninjured spouse grapples with adapting to the changes in their partner. The purpose of this study was to examine the probability of marital stability after TBI at 6 and 12 months following injury (i.

Mobility Medicine: A call to unify hyper-fragmented specialties by abstracts sent to 2025Pdm3, and typescripts to Ejtm3, and .

Mega scientific conferences increasingly suffer from the need for short and poster presentations without discussion. An alternative is to organize workshops in hotels large enough to accommodate all participants. This significantly increases the opportunities for constructive discussion during breakfasts, lunches, dinners and long evenings that can bring together experts of scientific and clinical sub-specialties and young fellows.

Evaluation of the analytic performance and macroprolactin sensitivity of a new prolactin immunoassay.

Purpose: Prolactin measurement is essential in endocrine diagnostics. Challenges such as the hook effect and reactivity to macroprolactin, which varies according to the reagent, complicate accurate measurement. The present study evaluated a newly marketed reagent to detect prolactin, IDS Prolactin, comparing it to an established reagent, Roche Elecsys Prolactin, assessing its behavior toward macroprolactin and polyethylene glycol (PEG) treatment, and establishing reference intervals.

Utilization of Vestibular Information for Balance Control in Children with Chiari I Malformation.

(1) Background: Surgery for Chiari I malformation (CMI) is indicated when typical clinic-radiological features (syringomyelia, exertional headaches, sleep apnea syndrome, and tetraparesis) are present. Sometimes, patients have atypical complaints suggestive of otolaryngological (ENT) involvement, and it is sometimes difficult for the neurosurgeon to determine if these complaints are related to the CMI. Our aim was to describe postural control patterns in children with CMI using computerized dynamic posturography.

Patient-provider relationships and long COVID: A cross-sectional survey about impact on quality of life.

Background: In the United States (U.S.), it is estimated that 17.

Demographics, Clinical Characteristics, and Well-Being of Veterans with TBI and Dementia and Their Caregivers.

Background: This study provides a detailed examination of older Veterans with traumatic brain injury (TBI) and dementia and their caregivers, focusing on Veterans' demographic, clinical, functional, safety risk, and behavioral characteristics and caregivers' demographic, clinical, and care-related characteristics and well-being.

Methods: Veterans' caregivers (N = 110) completed a telephone-based survey.

Results: Veterans averaged eight comorbid health conditions, with over 60% having chronic pain, hypertension, post-traumatic stress disorder, or depression.

Proposed categories for reporting of service organization in rehabilitation in clinical trials: a discussion paper.

Background: The lack of standardized reporting for crucial organizational factors in rehabilitation poses a significant barrier to understanding their impact on patient outcomes in clinical trials and meta-analyses.

Aim: Based on the categories in the International Classification of Service Organization in Rehabilitation (ICSO-R 2.0), we aimed to develop reporting standards specifically for organizational factors in clinical trials.

Self-management support program delivered in the sub-acute phase after traumatic injury-study protocol for a pragmatic randomized controlled trial.

Background: Traumatic injuries, defined as physical injuries with sudden onset, are a major cause of distress and disability, with far-reaching societal consequences. A significant proportion of trauma survivors report persistent symptoms and difficulties after the injury, and studies show unmet health care needs. Self-management programs delivered in the sub-acute phase after traumatic injuries are scarcely evaluated.

Attention and processing speed tests: Normative data for Spanish-speaking adults in the United States.

Background: Hispanics/Latinos are the largest racial/ethnic group among underrepresented populations in the U.S. and multiple sociodemographic, cultural, and linguistic factors have been found to impact their performances on cognitive testing.

WHO-UCLA auditory verbal learning test: Normative data for Spanish-speaking adults in the United States.

Background: Hispanics are a significant demographic in the U.S., with diverse cultures and languages.

Executive function tests: Normative data for Spanish-speaking adults in the United States.

Background: Normative data for Spanish-speaking populations, particularly Hispanics in the U.S., is notably scarce.

Mapping of temperate upland habitats using high-resolution satellite imagery and machine learning.

Upland habitats provide vital ecological services, yet they are highly threatened by natural and anthropogenic stressors. Monitoring these vulnerable habitats is fundamental for conservation and involves determining information about their spatial locations and conditions. Remote sensing has evolved as a promising tool to map the distribution of upland habitats in space and time.

Normative data for verbal fluency and naming tests in Spanish-speaking adults in the United States.

Background: Linguistic deficits are common across neurological and neurodegenerative disorders. Currently there are limited neuropsychological norms available for Spanish-speaking adults residing in the U.S.