Detection of HTTex1p by western blot and immunostaining of HD human and mouse brain using neo-epitope antibody P90 highlights impact of CAG repeat expansion on its size, solubility, and response to MSH3 silencing.

has been identified in human and mouse HD brain as the pathogenic exon 1 mRNA generated from aberrant splicing between exon 1 and 2 that contributes to aggregate formation and neuronal dysfunction (Sathasivam et al., 2013). Detection of the HTT exon 1 protein (HTTex1p) has been accomplished with surrogate antibodies in fluorescence-based reporter assays (MSD, HTRF), and immunoprecipitation assays, in HD postmortem cerebellum and knock-in mice but direct detection by SDS-PAGE and western blot assay has been lacking.

Ethical Challenges of Artificial Intelligence in Medicine.

Artificial intelligence (AI) and machine learning (ML) have become critical components in the transformation of healthcare. They offer enhanced diagnostic accuracy, personalized treatment plans, and support for clinical decision-making. However, with these advancements come significant ethical challenges, including concerns around transparency, bias, data privacy, and the potential displacement of healthcare professionals.

Bactrim-Induced Hepatotoxicity.

Sulfamethoxazole/trimethoprim (SMX/TMP) is a commonly used antimicrobial agent for treating common bacterial infections such as urinary tract infection (UTI), combined with doxycycline for community-acquired methicillin-resistant (MRSA), and invaluable in pneumonia (PJP), previously classified as . Of its known adverse reactions, hepatotoxicity rarely comes to mind, but indeed, it is a recognized but very rare adverse reaction that may lead to liver failure in adults and even rarer in children. We present a case of hepatotoxicity in a 43-year-old male patient on no prior medication who developed jaundice and highly elevated liver enzymes one week after the administration of Bactrim for the treatment of UTI in association with prostatism, symptoms of decreased urinary force due to obstruction of flow through the prostate gland.

Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in Trappc9-linked brain developmental syndrome.

Loss-of-function mutations of the gene encoding the trafficking protein particle complex subunit 9 (Trappc9) cause autosomal recessive intellectual disability and obesity by unknown mechanisms. Genome-wide analysis links Trappc9 to nonalcoholic fatty liver disease (NAFLD). Trappc9-deficient mice have been shown to appear overweight shortly after weaning.