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- AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with PolymicrogyriaPublication . Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, RHereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have been reported in HSPs.1 Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S mutations. The disease is characterized by neonatal hypotonia that progresses to hypertonia and spasticity in early childhood, developmental delay, mental retardation, and poor or absent speech. Febrile or afebrile seizures may also occur.
- Congenital Hyperinsulinism in Two Siblings with ABCC8 Mutation: Same Genotype, Different PhenotypesPublication . Sousa-Santos, F; Simões, H; Castro-Feijóo, L; Rodríguez, P; Fernández-Marmiesse, A; Fiaño, R; Rego, T; Carracedo, A; Conde, JCongenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient number 1) yet responded to somatostatin analogues. Patient number 1 developed various neurological deficits (including epilepsy), however patient number 2 experienced an entirely normal neurodevelopment. We believe this case shows how previous knowledge of the firstborn sibling's disease contributed to a better and timelier medical care in patient number 2, which could potentially explain her better neurological outcome despite their same genotype.
- O Repositório e o Anuário do Centro Hospitalar de Lisboa Central: Contributos Para a Ciência AbertaPublication . Quininha, A; Barreto, D; Pereira-da-Silva, L; Almeida, SNuma unidade de saúde, a atividade científica tem reconhecidas vantagens para a assistência clínica, investigação e ensino/formação. Têm sido adoptadas diversas estratégias para obter um registo completo da produção científica do CHLC, mas também para permitir o acesso aberto da ciência aos seus colaboradores. Assim, o Centro Hospitalar de Lisboa Central (CHLC) aderiu à rede de Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) em 2011 e tem envidado esforços para registar a investigação desenvolvida na instituição na base nacional oficial, respondendo de forma rigorosa ao Inquérito ao Potencial Científico e Tecnológico Nacional (IPCTN).
- A Promoção da Saúde Oral nos Profissionais de Saúde do Centro Hospitalar de Lisboa Central: Contributo para a Vigilância da Saúde e Bem-Estar em Contexto OcupacionalPublication . Armeiro, S; Rodrigues, C; Tolentino, D; Manzano, MJ
- Stage III Kienböck's Disease Treated with Hyperbaric Oxygen: the Role of an Unusual Approach to a Rare ConditionPublication . Figueira, PJ; Alpuim Costa, D; Barbagallo, N; Guerreiro, FKienböck's disease is a rare condition characterised by avascular necrosis of the lunate bone. Its natural history and aetiopathogenesis have not yet been clarified, nor are its triggering factors identified. We present a case of a 17-year-old male gymnast, without relevant medical/family history, with stage IIIA Kienböck's disease diagnosed in 2016. Initially, submitted to conservative treatment that proved to be insufficient. Consequently, surgical treatment was proposed, but refused. The patient instead underwent experimental treatment with hyperbaric oxygen (120 sessions, 100% oxygen at 2.5 atm, for 70 min periods, once daily, five times per week). In April 2018, a favourable clinical and radiological evolution was observed, with an improvement in the patterns of pain, motion and strength and an almost complete involution of the process of aseptic necrosis of the semilunar. To the best of our knowledge, this is the first report of Kienböck's disease treated with hyperbaric oxygen.
- Choosing Wisely Portugal - Wise Health DecisionsPublication . Bigotte Vieira, M; Ferreira Santos, G; Carvalho, CR; Dias, CV; Sousa, DC; Leal, I; Valente Jorge, J; Alves, M; Morgado, M; Baptista, RB; Fortunato, P; Vaz Carneiro, A; Guimarães, M