LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum.

Adults with chronic low back pain hold negative beliefs towards running: a mixed methods study.

Objectives: To explore differences in beliefs towards running in adults with and without chronic low back pain.

Design: This convergent mixed methods cross-sectional study compared adults with chronic low back pain (n = 39) to pain-free adults with a history of chronic low back pain (n = 28) and a low back pain naive control group (n = 71).

Methods: Beliefs towards running (activity specific beliefs questionnaire; range: 1-4 points), pain intensity (101-point visual analogue scale), disability (Oswestry Disability Index), and habitual physical activity (International Physical Activity Questionnaire) were analysed.

Barriers and Facilitators to Long-Term Adherence in an Ongoing, Supervised, Gym-Based Exercise Program Among Adults With Chronic Conditions in Regional Australia.

Background/objective: Adherence rates to supervised gym-based exercise programs traditionally decline over time, highlighting the need to understand participants' perceptions regarding barriers and facilitators to long-term participation. To explore the experiences of people with one or more chronic conditions participating in an ongoing, supervised, gym-based exercise program in regional Australia.

Method: Semistructured interviews were completed with 40 participants and were analyzed thematically using a descriptive qualitative approach.

Tumor microenvironment differences between diagnostic and relapsed classic Hodgkin lymphoma revealed by scRNA-seq.

Classical Hodgkin Lymphoma (CHL) is characterized by a complex tumor microenvironment (TME) that supports disease progression. While immune cell recruitment by Hodgkin and Reed-Sternberg (HRS) cells is well-documented, the role of non-malignant B cells in relapse remains unclear. Using single-cell RNA sequencing (scRNA-seq) on paired diagnostic and relapsed CHL samples, we identified distinct shifts in B-cell populations, particularly an enrichment of naïve B cells and a reduction of memory B cells in early-relapse compared to late-relapse and newly diagnosed CHL.