3 documents found, page 1 of 1
A next-generation sequencing approach for the simultaneous study of Wilms tumor...
Silva, Catarina; Carpinteiro, Dina; Cavaco, Branca; Vieira, LuísWilms Tumor (WT), also known as nephroblastoma, is a rare kidney condition which affects 1 in ~10.000 infants and children. This tumor is of complex etiology with underlying causes still incompletely understood. The majority of known mutations in WT are of somatic origin, with approximately one-third of patients displaying mutations in WT1, CTNNB1, AMER1 (WTX) and/or TP53 genes. In contrast, familial predisposi...
TERT promoter mutations are a major indicator of poor outcome in differentiated...
Melo, Miguel; Gaspar Da Rocha, Adriana; Vinagre, João; Batista, Rui; Peixoto, Joana; Tavares, Catarina; Celestino, Ricardo; Almeida, AnaContext: Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers. Objectives: We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTCs). De...
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies
Marques, Pedro; Santos, Rita; Cavaco, Branca; Leite, ValerianoIntroduction: Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish.Clinical report: 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation...