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.

Sociodemographic and clinical predictors of quality-of-life outcome in children and young people with primary brain tumour in Karachi, Pakistan: a prospective cohort study.

Background: Children and young people (CYP) with primary brain tumour (PBT) are at high risk for developing late effects, potentially affecting long-term quality of life (QoL). In low-income and middle-income countries, QoL has not been studied in depth in CYP. In the present study, CYP treated for PBTs in Pakistan were evaluated regarding (A) mean change in QoL scores pretreatment and 12 months post-treatment and (B) predictors of change in QoL scores 12 months post-treatment.

Understanding the effectiveness and quality of virtual cancer multidisciplinary team meetings (MDTMs): a systematic scoping review.

Introduction: Cancer multi-disciplinary team meetings (MDTM) assemble clinical experts to make diagnostic and treatment recommendations. MDTMs can take place in person, virtually, or in a hybrid format. Virtual and hybrid MDTMs have been in use for over two decades.

TFAP2C-DDR1 axis regulates resistance to CDK4/6 inhibitor in breast cancer.

Breast cancer is the predominant malignancy with the majority of cases are characterized as HR+/HER2-subtype. Although cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) have shown remarkable efficacy in treating this subtype when combined with endocrine therapy, the development of resistance to these inhibitors remains a significant clinical obstacle. Hence, there is an urgent need to explore innovative therapies and decipher the underlying mechanisms of resistance to CDK4/6i.