54 results match your criteria: "Fondazione IRCCS Casa Sollievo della Sofferenza Hospital[Affiliation]"
Front Psychol
April 2019
Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by involuntary, jerky movements, incoordination, behavioral changes and subtle executive and cognitive impairment starting before motor symptoms. Our study aimed to assess the risky decision-making process in premanifest (pre) HD subjects, by means Game of Dice Task (GDT). As dependent variables, several GDT outcomes have been taken into consideration.
View Article and Find Full Text PDFCancer Res
May 2019
Department of Bioscience, Biotechnology and Biopharmaceutics and Centre of Excellence in Comparative Genomics, University of Bari Aldo Moro, Bari, Italy.
The glial water channel protein aquaporin-4 (AQP4) forms heterotetramers in the plasma membrane made of the M23-AQP4 and M1-AQP4 isoforms. The isoform ratio controls AQP4 aggregation into supramolecular structures called orthogonal arrays of particles (AQP4-OAP). The role of AQP4 aggregation into OAP in malignant gliomas is still unclear.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
December 2018
Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:
Parathyroid carcinoma (PC) is a rare disease with an indolent behavior due to the low malignant potential. The etiology is unknown. Somatic mutations of CDC73 gene, the same gene involved in the hyperparathyroidism-jaw tumor syndrome, can be identified in up to 70% of patients with PC and in one-third of cases the mutations are germline.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
December 2018
Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Division of Medical Genetics, Italy. Electronic address:
Parathyroid tumors represent an elusive endocrine neoplasia, which lead to primary hyperparathyroidism, pHPT, a common endocrine calcium disorder characterized by hypercalcemia and normal-high parathormone secretion. Parathyroid tumours are benign adenomas or multiple glands hyperplasia in the vast majority (>99% of cases), while malignant neoplasms are rare (less than 1%). Despite pHPT is a common disorder, our knowledge about the genetic predisposition and molecular pathophysiology is limited to the familial syndromic forms of parathyroid tumour, that, however, represent not more than the 10% of all the cases; instead, the pathophysiology of sporadic forms remains an open field, although data about epigenetic mechanisms or private genes have been supposed.
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