17 documents found, page 1 of 2
Doenças mitocondriais na era da sequenciação de nova geração: estudo de 450 doe...
Nogueira, Célia; Pereira, Cristina; Silva, Lisbeth; Laranjeira, Mateus; Lopes, Altina; Neiva, Raquel; Rodrigues, Esmeralda; Campos, TeresaAs doenças mitocondriais (DM) são doenças raras, clínica e geneticamente heterogéneas, de difícil diagnóstico, para as quais não existe uma terapia eficaz. O desenvolvimento da tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular deste grupo de doenças, permitindo a identificação de novos genes associados a estas patologias. Nesta nova era genética, através da utilização da tecn...
A rare cause of intellectual disability
Oliveira, Íris; Fernandes, Andreia; Pereira, Mafalda; Rodrigues, Márcia; Silva, Noémia; Mendonça, CarlaA seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle. A transfontanellar ultrasound was performed, revealing mild enlargement of the lateral and third ventricles. Head circumference remained below the third percentile until the age of fiv...
High incidence of early thalamic lesions in the Continuous Spike-Wave related w...
Carvalho, Daniel; Mendonça, Carla; Carvalho, João; Martins, Ana; Leal, AlbertoObjective: Continuous Spike-Wave during slow Sleep (CSWS) syndrome associates a clinically important neurocognitive regression with strong activation of non-REM sleep spikes. Its mechanisms remain unknown, but a contribution of rare perinatal thalamic injuries has been highlighted. We determine the incidence of such lesions in a cohort of CSWS patients. Methods: N = 65 patients with CSWS and a control group (N ...
Acute Ischemic Stroke in a 13-Year-Old Girl: An Unusual Etiology
Tiago, Daniel M.; Pereira, Rita Justo; Monteiro, Teresa; Moura, Márcio; Mendonça, CarlaAcute ischemic stroke is rare in children and is associated with heart, hematologic, and vascular conditions. A high index of suspicion is required for proper diagnosis and intervention. We report a case of an acute ischemic stroke in a 13-year-old girl with a past medical history of left subscapular arteriovenous malformation. She started complaining of fever and nasal obstruction four days before admission, f...
Tribute to Professor Sonia Ranincheski
Prestes, Anita Leocadia; Neves, Abilio Afonso Baeta; McManus, Concepta; Schmidt, Benício V.; Maybury-Lewis, Biorn; Sena, Caridad Massón; Negri, CamiloTribute Texts to Professor Sonia Ranincheski; Textos de homenaje a la profesora Sonia Ranincheski; Textos de Homenagem à professora Sonia Ranincheski
Voter and electoral communication in Porto Alegre: from party ideology to media...
Mendonça, Carla; Duarte, JéssicaThis article analyses the 2008, 2012 and 2016 local elections in Porto Alegre, the capital of the state of Rio Grande do Sul (RS), Brazil, based on the building of a comparative framework between voter behaviour and political coalitions` communication strategies. Electorate historical features, electoral results and electoral communication strategies are analysed and, finally, the data of the winning cand...
Koolen-de Vries syndrome – National Case Series with clinical and molecular cha...
Soares, Marta P.; Rodrigues, Márcia; Dupont, Juliette; Medeira, Ana; Freixo, João; Nunes, Sofia; Cordeiro, Isabel; Travessa, André; Soares, GabrielaIntroduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in...
Juventude, engajamento e participação e os padrões culturais da sociedade em rede
Mendonça, CarlaAnais das IV Jornadas Internacionais de Problemas Latino-Americanos: Lutas, Experiências e Debates na América Latina - ISBN 978-950-793-223-6 - Orgs. Paulo Renato da Silva ; Mario Ayala ; Fabricio Pereira da Silva ; Fernando José Martins; Submitted by Nilson Junior (nilson.junior@unila.edu.br) on 2017-03-28T19:02:31Z No. of bitstreams: 1 IV JIPLA_119-137.pdf: 195842 bytes, checksum: bc8a956102e7404c440eaf693248...
Rabdomiomatose cardíaca disseminada em recém-nascido assintomático
Scortenschi, Ecaterina; Gaspar, Luísa; Gaspar, Luísa; Santos, Vera; Santos, Vera; Mendonça, Carla; Mendonça, Carla; Anjos, RuiOs autores apresentam o caso clínico de um recém-nascido assintomático com diagnóstico pré-natal de rabdomiomatose cardíaca disseminada.
Impactos de processos de integração em zonas de fronteira : o crescimento dos f...
Mendonça, CarlaMonografia (especialização)—Universidade de Brasília, Instituto de Relações Internacionais, 2008.; Submitted by Elna Araujo (elna@bce.unb.br) on 2010-07-26T17:44:37Z No. of bitstreams: 1 2008_CarlaMendonça.pdf: 1168952 bytes, checksum: 28c322127f5f2b3c571ffba247bd7d44 (MD5); Approved for entry into archive by Luanna Maia(luanna@bce.unb.br) on 2010-10-01T15:01:05Z (GMT) No. of bitstreams: 1 2008_CarlaMendonça.pd...