Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Background: MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD-MUC1 patients produce approximately 50% of normal mucin-1.

Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.

The trafficking dynamics of uromodulin (UMOD), the most abundant protein in human urine, play a critical role in the pathogenesis of kidney disease. Monoallelic mutations in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), an incurable genetic disorder that leads to kidney failure. The disease is caused by the intracellular entrapment of mutant UMOD in kidney epithelial cells, but the precise mechanisms mediating disrupted UMOD trafficking remain elusive.

Conscientious Objection: Understanding When and Why Primary Care Physicians Object to Providing Health Care to Transgender and Gender-Diverse Patients in an Appalachian Medical Center.

Introduction: Transgender and gender-diverse (TGD) individuals face barriers to accessing primary and gender-affirming care, especially in rural regions where a national shortage of medical providers with skills in caring for TGD people is further magnified. This care may also be impacted by individual providers' strongly held personal or faith beliefs and associated conscientious objection to care.

Purpose: This study assesses the prevalence of conscientious objection to providing care and gender-affirming hormone (GAH) therapy to TGD individuals among physicians in an Appalachian academic medical center.

CYP2C gene polymorphisms in North African populations.

Background: Cytochrome P450 is a superfamily of genes generating hemoproteins that metabolize foreign chemicals as well as endogenous compounds, such as steroids. The human CYP2C genes (CYP2C8, CYP2C9, CYP2C18, CYP2C19) cluster on chromosome 10 and metabolize many clinically useful drugs. CYP2C19 and CYP2C9 have been the most studied while CYP2C8 has been studied less frequently.