Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays.

Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore, it is the rate of somatic CAG repeat expansion that drives the age of onset and rate of disease progression.

Concurrent Zoster Sine Herpete and Hepatosplenic Fungal Infection in a Cancer Patient: A Case Report.

In patients undergoing treatment for hematological cancers, like hairy cell leukemia (HCL), appropriate management of infections is of utmost importance. This paper describes the successful treatment of an HCL patient who had both visceral zoster sine herpete (ZSH) and hepatosplenic fungal infection, possibly caused by . To our knowledge, this is the first such case to appear in the literature, as these are rare conditions associated with states of immunosuppression, similar to those observed in hematological malignancy.

Impact of an Inpatient Family Medicine Exposure: Changing Student Perception.

Introduction: Currently there is a primary care physician shortage in the United States, and this shortage is expected to worsen into the foreseeable future. In 2023, only 7.5 % of US allopathic graduates entered family medicine (FM) residencies.

The opioid industry's use of scientific evidence to advance claims about prescription opioid safety and effectiveness.

It is widely recognized that pharmaceutical marketing contributed to the ongoing US opioid epidemic, but less is understood about how the opioid industry used scientific evidence to generate product demand, shape opioid regulation, and change clinician behavior. In this qualitative study, we characterize select scientific articles used by industry to support safety and effectiveness claims and use a novel database, the Opioid Industry Documents Archive, to determine notable elements of industry and non-industry documents citing the scientific articles to advance each claim. We found that 15 scientific articles were collectively mentioned in 3666 documents supporting 5 common, inaccurate claims: opioids are effective for treatment of chronic, non-cancer pain; opioids are "rarely" addictive; "pseudo-addiction" is due to inadequate pain management; no opioid dose is too high; and screening tools can identify those at risk of developing addiction.

Blurring Boundaries: A Proposed Research Agenda for Ethical, Legal, Social, and Historical Studies at the Intersection of Infectious and Genetic Disease.

Contemporary understanding of the mechanisms of disease increasingly points to examples of "genetic diseases" with an infectious component and of "infectious diseases" with a genetic component. Such blurred boundaries generate ethical, legal, and social issues and highlight historical contexts that must be examined when incorporating host genomic information into the prevention, outbreak control, and treatment of infectious diseases.