The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.

In vitro modelling of anterior primitive streak patterning with human pluripotent stem cells identifies the path to notochord progenitors.

Notochord progenitors (NotoPs) represent a scarce yet crucial embryonic cell population, playing important roles in embryo patterning and eventually giving rise to the cells that form and maintain intervertebral discs. The mechanisms regulating NotoPs emergence are unclear. This knowledge gap persists due to the inherent complexity of cell fate patterning during gastrulation, particularly within the anterior primitive streak (APS), where NotoPs first arise alongside neuro-mesoderm and endoderm.

Technology-Assisted Parenting Intervention Plus Therapist Coaching: A Pilot Randomized Trial in a Community Practice Setting.

Disruptive behaviors are the most common clinical presentation in children and adolescents, particularly among disadvantaged youth referred to community mental health clinics (CMHCs). When left unaddressed, disruptive behaviors can increase the risk of adverse mental health outcomes. While parenting interventions are known to be efficacious and efficient treatment approaches, there are many barriers to involvement in such programs, particularly for disadvantaged populations.

Specific vegetable types are associated with lower long-term risk for late-life dementia: the Perth Longitudinal Study of Aging Women.

This study examined the relationship between total vegetable intake, including specific vegetable types with long-term late-life dementia (LLD) risk in older Australian women. 1206 community-dwelling older women aged ≥70 years were included. Consumption of total vegetable intake and vegetable types (yellow/orange/red [YOR], cruciferous, allium, green leafy vegetables [GLV], and legumes) were estimated using a validated food frequency questionnaire at baseline (1998).

Acupuncture for fatigue in breast cancer survivors: a study protocol for a pragmatic, mixed method, randomised controlled trial.

Introduction: Fatigue is a common symptom observed in post-cancer treatment, yet its underlying mechanisms remain poorly understood. Acupuncture has been employed to alleviate cancer-related fatigue (CRF); however, its effectiveness in addressing associated comorbidities that may influence fatigue is also poorly understood. This study represents the first investigation to use acupuncture as an intervention for fatigue in breast cancer survivors within a Norwegian cohort.