Browsing by Author "Rodrigues, N."
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- Gastroenteropatia perdedora de proteínas associada a co-infecção por Helicobacter pylori e vírus citomegálicoPublication . Rodrigues, N.; Portugal, V.; Rodrigues, L.; Aroso, S.A gastroenteropatia perdedora de proteínas (GEPP) está associada a distúrbios gastrointestinais e não gastrointestinais diversos. Citomegalovírus (CMV) e Helicobacter pylori (HP) têm sido apontados como possíveis agentes etiológicos. Apresentamos um caso clínico de uma criança de 13 meses com edemas palpebrais e maleolares com 48 horas de evolução, hipoproteinemia com hipoalbuminemia e hipogamaglobulinemia de instalação aguda, internada para estudo etiológico. Após exclusão das causas renais e hepáticas, a GEPP tornou-se a hipótese diagnóstica mais provável. A endoscopia digestiva alta foi normal, mas no exame histológico do produto de biópsia foi evidente gastrite crónica com sinais de actividade e duodenite associadas à presença de HP na mucosa. A pesquisa de CMV por PCR (protein chain reaction) foi positiva na biópsia gástrica e duodenal. A evolução foi favorável, espontânea e auto-limitada. ABSTRACT Protein losing gastroenteropathy (PLGE) is associated with several gastrointestinal and non-gastrointestinal disorders. Cytomegalovirus (CMV) and Helicobacter pylori (HP) have been pointed as possible etiologic agents. We present a clinical case of a child, 13 months age, with palpebral and maleolar edema with 48 hours of evolution, hypoproteinemia with hypoalbuminemia and hypogammaglobulinemia with an acute onset. After exclusion of renal and hepatic causes, PLGE became the most likely diagnostic hypothesis. Upper endoscopy was normal but the biopsy revealed chronic gastritis with activity signs and duodenitis. PCR (protein chain reaction) for CMV was positive in gastric and duodenal biopsy. Evolution was favourable, and resolution spontaneous.
- Paraplegia espástica familiar tipo 4 – antecipação ou variabilidade fenotípica?Publication . Rodrigues, N.; Ferreira, S.; Rodrigues, L.; Castro, A.; Barbosa, C.; Gomes, R.Introdução: A Paraplegia Espástica Familiar (PEF) é um grupo heterogéneo de doenças neurodegenerativas hereditárias, com uma prevalência de 2/100000 indivíduos na população portuguesa. Caracteriza-se sobretudo por espasticidade progressiva e insidiosa dos membros inferiores, por degeneração do feixe corticoespinhal. Caso Clínico: Apresentamos uma criança com espasticidade e hiperreflexia progressivas dos membros inferiores, com vários familiares da linha paterna com sintomatologia semelhante, sugerindo ao diagnóstico de paraplegia espástica familiar. Foi identificada no probando uma mutação causal de paraplegia espástica familiar tipo 4. Conclusão: Nesta família, a idade de início variou entre os cinco e os 50 anos, e diminuiu em média 22,5 anos ao longo de três gerações e, por outro lado, a apresentação e evolução da doença foram aparentemente mais graves em gerações sucessivas, sugerindo a existência de fenómeno de antecipação. ABSTRACT Introduction: Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative diseases, with a prevalence of 2/100000 in the Portuguese population. It is mainly characterized by progressive and insidious spasticity of the lower limbs due to degeneration of corticospinal tracts. Case Report: We present a child with progressive spasticity and hyperreflexia of lower limbs, with several relatives of the paternal line with similar symptoms, suggesting the diagnosis of hereditary spastic paraplegia. A causing mutation of hereditary spastic paraplegia type 4 was identified in the proband. Conclusion: In this family, the age of onset varies from five to 50 years, and decreased in average 22,5 years over three generations. The clinical presentation and progression apparently tended to be more severe in successive generations, witch these suggests the phenomenon of anticipation.
- Using the post‐operative quality recovery scale to evaluate recovery with different neuromuscular blocking reversal agentsin the Portuguese population ‐ interim analysis results: 1AP3‐8Publication . Gomes, B.; Lagarto, F.; Bismarck, A.; Rodrigues, N.; Nogueira, M.; Amorim, P.Background and Goal of Study: Post-operative Quality Recovery Scale (PQRS), is the first scale evaluating several domains of postoperative recovery. The objectives of this study were to compare overal and physiologic, cognitive, and functional domains of post-operative recovery af ter elective surgical procedures using neostigmine or sugammadex as neuromuscular blocking (NMB) reversal agents, to validate the use of PQRS in the Portuguese population and to objectively assess muscular strength recovery. Materials and Methods: Prospective multicenter observational study comparing postoperative recovery between 2 cohorts of 50 adult patients submitted to elective surgical procedures with general anesthesia using Nondepolarizing Muscle Relaxants and NMB reversal with neostigmine or sugammadex. Measurements obtained using Portuguese version of PQRS at dif ferent timepoint: baseline,15 minutes (T15), 40 minutes (T40), one and three days af ter surgery. Full recovery defined as return to values identical or higher than those measured at baseline, prior to surgery. Muscular strength measured with KERN- MAP® Dynamometer. Ethics Committees approval was obtained. Statistics used linear T-Test, Qui Square and Fisher exact test, data presented as mean±SD for continuous variables. Interim analysis results presented Results and Discussion: Thirty patients received neostigmine and 21 sugammadex. Age and BMI 50.4±11.8 and 28.6±5.6 in the neostigmine group and 38.2±12.7 and 24.7± 4.5 in the sugammadex group (p< 0,001). Overall response rate at T15 was 86% for neostigmine and 95% for sugammadex (p= 0.22). Dif ferences in favor of sugammadex group noted in nociceptive and emotional domains, 80 vs 100% respectively (p=0.04). Overall response rate at T40 was 80% for neostigmine and 65% for sugammadex (p=0.33), primarily reflecting constraints on activities of daily life. Muscular strength did not dif fer. Improvements in recovery scores from T15 to T40 were observed in both groups, without significant dif ferences . Postoperative assessments were feasible using PQRS at T15 and T40 and seem appropriate for comparisons between postoperative recovery domains and overall recovery . These preliminary results suggest nociceptive and emotional domains recovery at T15 may be faster with sugammadex. Conclusion: The results support the adopted PQRS validation process and the potential of this scale as a tool for the evaluation of post operative recovery evaluation in the Portuguese population