Functional characterization of novel compound heterozygous missense gene variants causing congenital dyshormonogenic hypothyroidism.

Introduction: The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Biallelic loss-of-function variants in the NIS-coding gene cause congenital dyshormonogenic hypothyroidism due to a defect in the accumulation of iodide, which is required for thyroid hormonogenesis.

Objective: We aimed to identify, and if so to functionally characterize, novel pathogenic gene variants in a patient diagnosed with severe congenital dyshormonogenic hypothyroidism characterized by undetectable radioiodide accumulation in a eutopic thyroid gland, as well as in the salivary glands.

The challenges experienced by collegiate athlete cancer survivors.

Purpose: The growing number of athletes diagnosed with cancer requires a better understanding of their background, experiences, and specific goals to provide personalized care. Therefore, the purpose of this study was to explore the lived experiences of collegiate athletes in the United States diagnosed with cancer, reflecting on various barriers and challenges because of their cancer diagnosis, as they relate to their athletic participation and educational experiences.

Methods: This qualitative study used a phenomenological approach to study the nature and states of lived experiences in collegiate athlete cancer survivors diagnosed with cancer between the ages of 10 and 39 years old.

EZH2 deletion does not impact acinar regeneration but restricts progression to pancreatic cancer in mice.

Enhancer of Zeste Homologue 2 (EZH2) is part of the Polycomb Repressor Complex 2, which promotes trimethylation of lysine 27 on histone 3 (H3K27me3) and genes repression. EZH2 is overexpressed in many cancers and studies in mice attributed both pro-oncogenic and tumor suppressive functions to EZH2 in pancreatic ductal adenocarcinoma (PDAC). EZH2 deletion enhances de novo KRAS-driven neoplasia following pancreatic injury, while increased EZH2 expression in PDAC patients is correlated to poor prognosis, suggesting a context-dependant effect for EZH2 in PDAC progression.

Cognitive abilities predict naturalistic speech length in older adults.

Past research has demonstrated the association between social engagement and the maintenance of cognitive abilities. However, inconsistent definitions of social engagement have posed challenges to systematically investigate this association. This paper addresses the role of social relationships in cognitive functioning among older adults, focusing on the real-life communication indicator-length of own speech-as a measure of social activity.

Tumor Lysis Syndrome in Acute Myeloid Leukemia Patients Treated With a Venetoclax Based Regimen.

Venetoclax with hypomethylating agents (HMA) is the standard of care for acute myeloid leukemia (AML) in patients ineligible for intensive chemotherapy and is associated with tumor lysis syndrome (TLS). TLS prophylaxis and the use of Cairo Bishop versus Howard diagnostic criteria are not standardized. Here we report TLS prophylaxis and incidence in a retrospective cohort of 100 consecutive AML patients treated with venetoclax and HMA.