Durable disease regression with copanlisib treatment in PI3K-mutated metastasizing ameloblastoma: A case report.

Ameloblastoma is a rare tumor arising from odontogenic cells that is benign, yet locally aggressive. Metastasizing ameloblastoma (METAM) is an ultra-rare ameloblastoma variant in which both primary and secondary tumors have histological features of benign ameloblastoma. This is a case report of a patient who presented with a jaw mass and subsequent lung metastases, later diagnosed as METAM.

A family with an atypical presentation of TBX3-related disorder.

Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.

Generation of effective and specific human TCRs against tumor/testis antigen NY-ESO-1 in mice with humanized T cell recognition system.

Generation of high avidity T cell receptors (TCRs) reactive to tumor-associated antigens (TAA) is impaired by tolerance mechanisms, which is an obstacle to effective T cell therapies for cancer treatment. NY-ESO-1, a human cancer-testis antigen, represents an attractive target for such therapies due to its broad expression in different cancer types and the restricted expression in normal tissues. Utilizing transgenic mice with a diverse human TCR repertoire, we isolated effective TCRs against NY-ESO-1 restricted to HLA-A*02:01.

Veterans health administration leads the way in population mental health science: Commentary on Dodge et al. (2024).

Recently, Dodge et al. (2024) published an article in offering recommendations to the mental health field for changing from an individual-level to a population-level focus. These recommendations included scaling up evidence-based programs, innovating and evaluating population-level interventions, and creating a primary system of care to promote mental health and well-being.

PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature.

PDSS1 mutations hamper Coenzyme Q10 biosynthesis and cause a rare multisystem mitochondrial disease characterized by diverse clinical features and limited treatment options. To date, renal involvement has been reported in only one patient. We report a new female patient with compound heterozygous PDSS1 mutations and the clinical outcome following a trial of Coenzyme Q10 therapy.