المؤلفون: Olga Astapova, Anindita Biswas, Alessandra DiMauro, Jacob Moalem, Stephen R. Hammes

المصدر: Case Reports in Endocrinology, Vol 2018 (2018)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: Von Hippel-Lindau (VHL) disease, caused by germline mutations in the VHL gene, is characterized by metachronously occurring tumors including pheochromocytoma, renal cell carcinoma (RCC), and hemangioblastoma. Although VHL disease leads to reduced life expectancy, its diagnosis is often missed and tumor screening guidelines are sparse. VHL protein acts as a tumor suppressor by targeting hypoxia-inducible factors (HIFs) for degradation through an oxygen-dependent mechanism. VHL mutants with more severely reduced HIF degrading function carry a high risk of RCC, while mutants with preserved HIF degrading capacity do not cause RCC but still lead to other tumors. VHL disease is classified into clinical types (1 and 2A-2C) based on this genotype-phenotype relationship. We report a case of bilateral pheochromocytomas and no other VHL-related tumors in a patient with Y175C VHL and show that this mutant preserves the ability to degrade HIF in normal oxygen conditions but, similar to the wild-type VHL protein, loses its ability to degrade HIF under hypoxic conditions. This study adds to the current understanding of the structure-function relationship of VHL mutations, which is important for risk stratification of future tumor development in the patients.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6501Test; https://doaj.org/toc/2090-651XTest

الوصول الحر: https://doaj.org/article/cf991c77fab8402295fadb0719513e59Test

المؤلفون: Divya Kumar, Andrea M Amitrano, Stephen R. Hammes, Bala Bhagavath, A.R. Rackow, Christina Seger, Briaunna Minor, Alessandra DiMauro, R Matthew Kottman, Ifunanya Okeke, Manisha Taya

المصدر: Reproductive sciences (Thousand Oaks, Calif.). 29(9)

مصطلحات موضوعية: medicine.medical_specialty, medicine.drug_class, Biology, Internal medicine, medicine, Animals, Humans, neoplasms, Uterine leiomyoma, Leiomyoma, Prolactin receptor, Myometrium, Obstetrics and Gynecology, Estrogens, musculoskeletal system, medicine.disease, Fibrosis, female genital diseases and pregnancy complications, Prolactin, Rats, surgical procedures, operative, Endocrinology, Estrogen, Uterine Neoplasms, Female, Myofibroblast, hormones, hormone substitutes, and hormone antagonists, Hormone

الوصف: Uterine leiomyomas are benign, estrogen-sensitive, fibrotic smooth muscle cell tumors occurring in the uterine myometrium. Leiomyomas are a considerable health burden, with a lifetime prevalence of 80% and limited treatment options. Estrogen and progesterone have positive effects on leiomyoma growth, but little is known about the roles of other hormones. One hormone of interest is prolactin, as it has been described to be present and functional in leiomyomas. The current study investigates prolactin production within leiomyomas and its effects on myometrial cells. RNA isolation and quantitative-PCR of human leiomyoma samples relative to matched adjacent myometrium confirms significant expression of prolactin and dopamine receptor D2, a known regulator of prolactin production and release in the pituitary, with no difference in prolactin receptor expression. Immunohistochemistry confirms increased prolactin in leiomyomas compared to adjacent myometrium and uteri from women without leiomyomas. These results suggest that leiomyomas contain cells that produce prolactin, which may then promote signaling in leiomyoma cells to regulate leiomyoma development/growth. Accordingly, we find that prolactin robustly activates STAT5 and MAPK signaling in rat and human myometrial cell lines. Furthermore, prolactin stimulates expression of myofibroblast markers in rat myometrial cells. Our findings suggest that local prolactin production in leiomyomas may stimulate trans-differentiation of myometrial cells to myofibroblasts, which in turn contributes to the fibrotic nature of leiomyomas.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f785d8d4fffe0113421af79bd45e638Test
https://pubmed.ncbi.nlm.nih.gov/34724171Test

المؤلفون: Maurizio Salati, Alessandra DiMauro

المصدر: Journal of Cardiovascular Medicine. 11:462-464

مصطلحات موضوعية: Male, medicine.medical_specialty, Heart Ventricles, medicine.medical_treatment, Myocardial Infarction, Hemodynamics, law.invention, law, Internal medicine, Cardiopulmonary bypass, medicine, Humans, Cardiac Surgical Procedures, Aged, Retrospective Studies, Aged, 80 and over, Mitral regurgitation, Ejection fraction, Ischemic cardiomyopathy, business.industry, Suture Techniques, Mitral valve replacement, General Medicine, Middle Aged, medicine.disease, Heart failure, cardiovascular system, Cardiology, Female, Cardiomyopathies, Cardiology and Cardiovascular Medicine, Mitral valve regurgitation, business

الوصف: In 10 patients, a free-wall plication of inferior or lateral scar was performed. The procedure was done on cardiopulmonary bypass and aortic cross-clamping by means of four or five wide U-stitches. Six patients underwent concomitant mitral annuloplasty and one mitral valve replacement. One patient died postoperatively. There was a sudden and significative end-systolic volume reduction with a rise in ejection fraction. These hemodynamic benefits were partially lost during the follow-up but the mitral regurgitation grade remained unchanged.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a3d04447435fec6a26d809818127ecTest
https://doi.org/10.2459/jcm.0b013e32833572eeTest