Dementia Care Practice.

Current joint practice guidelines (PG) on genetic counseling and testing for Alzheimer's disease (AD), published in 2011 by the National Society of Genetic Counselors (NSGC) and American College of Medical Genetics), recommend against clinical APOE genetic testing. These recommendations were largely followed, as seen in a survey of AD Research Centers in 2019 where only 7% of centers reported disclosure of APOE to research participants. However, because the risk of amyloid related imaging abnormalities (ARIA) associated with anti-amyloid therapy is increased for those with one or two copies of APOE e4, the FDA now endorses APOE testing for those considering this treatment.

Economic Evidence in Occupational Therapy: A Rapid Review.

Given the necessity to demonstrate that occupational therapy services are a good use of resources, understanding the state of economic evidence is essential. This article presents a of this evidence. Relevant articles were identified using SCOPUS.

Transcriptionally Active Human Papillomavirus in Male Genital Lichen Sclerosus, Penile Intraepithelial Neoplasia, and Penile Squamous Cell Carcinoma.

Penile intraepithelial neoplasia (PeIN) and penile squamous cell carcinoma (PeSCC) are both thought to be associated with male genital lichen sclerosus and human papillomavirus (HPV) infection through dichotomous pathways: (i) undifferentiated PeIN and warty/basaloid PeSCC are thought to be HPV related, whereas (ii) differentiated PeIN and usual PeSCC are considered HPV independent. Tissue arrays were constructed from male genital lichen sclerosus, undifferentiated and differentiated PeIN, usual-type PeSCC, and unaffected tissues. Staining for p16 and for high-risk and low-risk HPV subtypes through RNAscope was performed.

Context-dependent effects of CDKN2A and other 9p21 gene losses during the evolution of esophageal cancer.

CDKN2A is a tumor suppressor located in chromosome 9p21 and frequently lost in Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC). How CDKN2A and other 9p21 gene co-deletions affect EAC evolution remains understudied. We explored the effects of 9p21 loss in EACs and cancer progressor and non-progressor BEs with matched genomic, transcriptomic and clinical data.

Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.

Signal transduction downstream of activating stimuli controls CD8+ T cell biology, however these external inputs can become uncoupled from transcriptional regulation in Primary Immune Regulatory Disorders (PIRDs). Gain-of-function (GOF) variants in STAT3 amplify cytokine signaling and cause a severe PIRD characterized by early onset autoimmunity, lymphoproliferation, recurrent infections, and immune dysregulation. In both primary human and mouse models of STAT3 GOF, CD8+ T cells have been implicated as pathogenic drivers of autoimmunity.