Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.

Characterizing the Relationships Amongst Psychological Safety, the Learning Environment, and Well-Being in Surgical Faculty and Trainees.

Objective: Learning environments affect the well-being of surgical faculty and trainees. Psychological safety (PS) has been linked with learning behaviors and aspects of well-being within medicine; however, given the unique challenges inherent to the surgical learning environment, there is a need to more closely examine these concepts for surgical faculty and trainees. The objective of this study is to examine the relationships between learning environment and PS, as well as PS and well-being with surgery.

Physical Performance Effects Associated with a 16-Week Therapeutic Yoga Intervention in Survivors of Cancers in the South Texas Region: A Pilot Study.

Yoga is recognized as a complementary practice that improves physical, mental, and spiritual health in survivors of cancer. The present study assessed associations between a holistic approach and physical function for 30 survivors of cancer in south Texas. Cancer survivors (86% female) of diverse backgrounds (62% underrepresented minorities) performed a battery of physical function tests, including a 6-minute walk test, to assess cardiorespiratory function, isometric shoulder and elbow-flexor strength, dominant-arm grip strength, dominant-arm shoulder range of motion via inclinometer, sit-and-reach test to assess trunk and lower-extremity flexibility, and a 30-second sit-to-stand test to assess lower-extremity endurance.

Stratified Medicine Paediatrics: Cell free DNA and serial tumour sequencing identifies subtype specific cancer evolution and epigenetic states.

We profiled a large heterogenous cohort of matched diagnostic-relapse tumour tissue and paired plasma-derived cell free DNA (cfDNA) from patients with relapsed and progressive solid tumours of childhood. Tissue and cfDNA sequencing results were concordant, with a wider spectrum of mutant alleles and higher degree of intra-tumour heterogeneity captured by the latter, if sufficient circulating tumour-derived DNA (ctDNA) was present. Serial tumour sequencing identified putative drivers of relapse, with alterations in epigenetic drivers being a common feature.