Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant genetic malformation disorder which is best characterized by both its craniofacial and skeletal abnormalities. The purpose of this paper is to identify the various orthopedic manifestations and management in patients with TRPS. A systematic search of PubMed, Ovid MEDLINE, and Cochrane Library was conducted.

Hypoxia controls expression of kidney-pathogenic variants.

The interplay between genetic and environmental factors influences the course of chronic kidney disease (CKD). In this context, genetic alterations in the kidney disease gene (Mucin1) predispose to the development of CKD. These variations comprise the polymorphism rs4072037, which alters splicing of MUC1 mRNA, the length of a region with variable number of tandem repeats (VNTR), and rare autosomal-dominant inherited dominant-negative mutations in or 5' to the VNTR that causes autosomal dominant tubulointerstitial kidney disease (ADTKD-).

Hypoxia induces polycystin-1 expression in the renal epithelium.

Mutations in polycystin-1 which is encoded by the gene are the main causes for the development of autosomal dominant polycystic kidney disease. However, only little is known about the physiological function of polycystin-1 and even less about the regulation of its expression. Here, we show that expression of is induced by hypoxia and compounds that stabilize the hypoxia-inducible transcription factor (HIF) 1 in primary human tubular epithelial cells.

Hypoxia hits APOL1 in the kidney.

Individuals of African ancestry carrying two pathogenic variants of apolipoprotein 1 (APOL1) have a substantially increased risk for developing chronic kidney disease. The course of APOL1 nephropathy is extremely heterogeneous and shaped by systemic factors such as a response to interferon. However, additional environmental factors operating in this second-hit model have been less well defined.

Profiles of COVID-19 vaccine hesitancy by race and ethnicity in eastern Pennsylvania.

Background: Throughout US history, chronic and infectious diseases have severely impacted minority communities due to a lack of accessibility to quality healthcare and accurate information, as well as underlying racism. These fault lines in the care of minority communities in the US have been further exacerbated by the rise of the COVID-19 pandemic. This study examined the factors associated with COVID-19 vaccine hesitancy by race and ethnicity, particularly among African American and Latinx communities in Eastern Pennsylvania (PA).