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.