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Genetic Architecture of Congenital Hypogonadotropic Hypogonadism: Insights from...

Carriço, Josianne Nunes; Gonçalves, Catarina Inês; Al-Naama, Asma; Syed, Najeeb; Aragüés, José Maria; Bastos, Margarida; Fonseca, Fernando

Study question: What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)? Summary answer: Approximately one-third of patients with CHH were found to have a genetic cause for their disorder, with causal pathogenic and likely pathogenic germline variants distributed among 10 different genes; cases of oligogenic inheritance were also included. What is k...


Guidelines for Management of Postoperative Hypoparathyroidism

Chaves, Catarina; Martinho, Mariana; Cunha, Filipe; Garrido, Susana; Vieira, Margarida; Almeida, Margarida

The regulation of the blood calcium level is achieved through parathyroid hormone (PTH) and 1,25 dihydroxyvitamin D, the active metabolite of vitamin D. Hypocalcemia may be associated with a spectrum of clinical manifestations, from mild to severe symptoms, which can endanger the patient´s life. Most cases of acute hypocalcemia occur in the context of hypoparathyroidism secondary to cervical surgery, due to the...


Extracting BI-RADS features from portuguese clinical texts

Nassif, Houssam; Cunha, Filipe; Moreira, Inês C; Cruz-Correia, Ricardo; Sousa, Eliana; Page, David; Burnside, Elizabeth; Dutra, Inês

In this work we build the first BI-RADS parser for Portuguese free texts, modeled after existing approaches to extract BI-RADS features from English medical records. Our concept finder uses a semantic grammar based on the BIRADS lexicon and on iterative transferred expert knowledge. We compare the performance of our algorithm to manual annotation by a specialist in mammography. Our results show that our parser'...


Development of a design in VHDL that sorts ternary vectors

Cunha, Filipe

This paper describes the steps to be executed for the design of an FPGA-based circuit that sorts ternary vectors of a matrix (with the size 16x16) and visualizes the result on a VGA monitor screen. The initial matrix is arbitrary filled with values 0, 1 and '-' (don't care) and then it is sorted using the bubblesort algorithm. Finally the initial and the sorted matrices will be displayed on themonitor screen.; ...


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