Pituitary gigantism is a rare condition whose association with McCune-Albright syndrome suggests that mutations in alpha-subunit of a Gs protein are an important cause of this condition. In addition to somatotroph adenoma, it is now recognized that somatotroph hyperplasia can also result from increased levels of growth hormone-releasing hormone. Transgenic rats with hypersomatotrophism are prone to renal and hepatic pathology.
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BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFFront Sports Act Living
January 2025
School of Management, Canadian University Dubai, Dubai, United Arab Emirates.
Context: This study was inspired by the considerable risks and diminishing enthusiasm among societies to invest in Olympic agendas, which traditionally involve billions of dollars, various opportunities, and complexities for host countries.
Purpose: The objective of this study was to evaluate the risks and benefits of long-term equity investments for companies and governments engaged in the Olympic movement.
Method: Qualitative methodologies were employed for this research, utilizing a multi-case approach that included 38 comprehensive interviews with companies and entities impacted by the Rio 2016 and Tokyo 2020 Olympic Games.
Ann Bot
January 2025
Division of BioInvasions, Global Change & Macroecology, University of Vienna, Austria.
Background And Aims: Despite accelerating interest in island evolution, the general evolutionary trajectories of island flowers remain poorly understood. In particular the island rule, which posits that small organisms become larger and large organisms to become smaller after island colonization, while tested in various plant traits, has never been tested in flower size. Here, we provide the first test for the island rule in flower size for animal- and wind-pollinated flowers, and the first evidence for generalized in-situ evolution of flower size on islands.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFThe discovery of RET mutations in multiple endocrine neoplasia type 2A (MEN2A) in 1993 ignited a revolution in our understanding of this versatile receptor. Since then, the influence of RET has expanded to encompass diverse organs, including the pituitary gland. This review explores the multifaceted role of RET in somatotrophs, focusing on two opposing pathways: proliferation versus differentiation and apoptosis.
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