Browsing by Author "Rodrigues, C."
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- Dysgenetic male pseudohermaphroditismPublication . Proença, E.; Freitas, S.; Fonseca, M.; Figueiredo, S.; Rodrigues, C.Acta Med Port. 2001 Sep-Dec;14(5-6):511-4. [Dysgenetic male pseudohermaphroditism] [Article in Portuguese] Proença E, Freitas S, Fonseca M, Figueiredo S, Rodrigues C. Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto. Abstract Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty. PMID: 11878163 [PubMed - indexed for MEDLINE]
- Esferocitose hereditária. Esplenectomia e colecistectomia. Experiência de um hospital pediátricoPublication . Soares, S.; Bonet, B.; Sousa, F.; Rodrigues, C.; Antunes, M.; Barbot, J.Objectivos: Avaliar as indicações para a esplenectomia e colecistectomia, os seus resultados e complicações em crianças com esferocitose hereditária. Material e Métodos: Realizou-se uma revisão retrospectiva das crianças com diagnóstico de Esferocitose Hereditária (EH) seguidas na consulta de Hematologia entre Janeiro de 1992 e Agosto de 2007. Os parâmetros avaliados foram: idade actual; sexo; grau de gravidade da EH avaliado de acordo com os critérios publicados pela British Society for Haematology em 2004; co-hereditariedade de síndrome de Gilbert; doentes submetidos a esplenectomia e colecistectomia; idade à data da cirurgia; método cirúrgico usado (laparotomia/laparoscopia; esplenectomia total/parcial); parâmetros relevantes na decisão de esplenectomia e/ou colecistectomia (anemia, reticulocitose, esplenomegalia, dependência transfusional, litíase vesicular, hematopoiese extramedular e outras) ; parâmetros analíticos pré e pós-cirúrgicos (hemograma, contagem de reticulócitos, bilirrubina total e bioquímica do ferro); atitudes profiláticas relativas a complicações de esplenectomia (vacinação prévia, antibioterapia profi lática e terapêutica) e registo de possíveis complicações (sépsis, trombose, lítiase vesicular) nos doentes submetidos a esplenectomia. Procedeu-se a análise estatística com recurso ao Software SPSS® versão 13. Resultados: O número de doentes com o diagnóstico de EH foi de 52. Destes 19 eram classificados como EH ligeira, 24 como EH moderada e nove como EH grave. Em 15 doentes foi efectuada esplenectomia total (ET) e em três doentes esplenectomia parcial (EP). Os motivos mais relevantes na decisão da esplenectomia foram: anemia com elevada reticulocitose (n=14), esplenomegalia severa (n=14), dependência transfusional (n=4), litíase vesicular (n=5) e pancreatite litiásica (n=2). O incremento médio de hemoglobina pós-esplenectomia foi de 4,95 g/ dl (1,6-10,1). A erradicação de hemólise, entendida como correcção da anemia, reticulocitose e valor de bilirrubina total, após a esplenectomia, verificou-se em 11 casos, três mantiveram reticulocitose moderada (2EP+1ET), dois reticulocitose severa (1ET+1EP). Não foram observadas complicações graves pós-esplenectomia. Em seis doentes observou-se trombocitose sustentada. Cinco das dezoito crianças submetidas a esplenectomia realizaram esplenectomia com colecistectomia concomitante, por lítiase vesicular. Nove doentes realizaram apenas colecistectomia num único tempo cirúrgico. Conclusões: As opções seguidas estão de acordo com as recomendações da literatura, ou seja, a maioria das EH graves foram esplenectomizados precocemente, apenas algumas EH moderadas mais tardiamente, enquanto que os casos ligeiros não foram esplenectomizados. A colecistectomia isolada, realizada em nove doentes, contraria a generalidade da literatura, que recomenda face a indicação para colecistectomia, a realização em simultâneo, de esplenectomia. Esta recomendação fundamenta-se num eventual risco de recorrência de litíase nas vias biliares. ABSTRACT Objective: To evaluate the indications for splenectomy and cholecystectomy, its results and complications in children with diagnosis of Hereditary spherocytosis (HS). Material and methods: The authors retrospectively reviewed all cases of HS followed in the Haematology Department of our hospital between January of 1992 and August of 2007.The parameters evaluated were: actual age, sex, HS classification accordingly to the criteria published by the British Society for Haematology in 2004, co-inheritance of Gilbert Syndrome, patients submitted to splenectomy and cholecystectomy; age at surgery; surgical method (laparotomy/laparoscopy; total/ partial splenectomy); relevant parameters for splenectomy and cholecystectomy (anemia, reticulocits number, transfusion dependence, splenomegaly, gallstones; extramedullary hematopoiesis and others); analytic results before and after surgery (hemogram, reticulocits count, total bilirrubin, iron bioquimics); prophylactic attitude in respect of complications due to splenectomy (previous vaccination, prophylactic and therapeutic antibiotics); assessment of possible complications (sepsis, thrombosis, gallstones) in patients submitted to splenectomy. It was performed a descriptive analysis recurring to the software SPSS, 13rd version. Results: Fifty-two patients were diagnosed with HS. Nineteen patients were classified as mild HS, 24 as moderate HS and nine as severe HS. Total splenectomy (TS) was performed in 15 patients and partial splenectomy (PS) in three patients. The most relevant motives in the decision to splenectomy were: anaemia with high reticulocyte count (n=14), severe splenomegaly (n=14), transfusion dependence (n=4), gallstones (n=5) and pancreatitis by cholelithiasis (n=2).The median haemoglobin increment after splenectomy was 4.95g/dl (1,6-10,1). The eradication of haemolysis, perceived as anaemia, reticulocitosis and bilirrubinemia correction, after splenectomy, was observed in 11 patients, three maintained moderate reticulocytosis (2PS+1TS) and two maintained severe reticulocytosis (1TS+1PS). We did not observe severe complications after splenectomy. In six patients persistent thrombocytosis was observed. Five from the eighteen children submitted to splenectomy realize both splenectomy and cholecystectomy, because of the presence of gallstones. Nine patients were submitted to cholecystectomy in one surgical time. Conclusions: The options followed agreed with the recommendations suggested in the literature: the majority of the severe HS were splenectomized early, some of the moderate forms were splenectomized later and the milder forms were not submitted to splenectomy. The isolated cholecystectomy, realized in nine patients, refute the general literature, that recommends at the same time of the cholecystectomy the realization of splenectomy. This recommendation fundaments in the eventual risk of recurrence of gallstones in biliar routes.
- Importation of Fosfomycin Resistance fosA3 Gene to EuropePublication . Mendes, A.; Rodrigues, C.; Pires, J.; Amorim, J.; Ramos, M.; Novais, Â.; Peixe, L.
- Predictive model of response to tafamidis in hereditary ATTR polyneuropathyPublication . Monteiro, C.; Mesgazardeh, J.; Anselmo, J.; Fernandes, J.; Novais, M.; Rodrigues, C.; Brighty, G.; Powers, D.; Powers, E.; Coelho, T.; Kelly, J.BACKGROUNDThe hereditary transthyretin (TTR) amyloidoses are a group of diseases for which several disease-modifying treatments are now available. Long-term effectiveness of these therapies is not yet fully known. Moreover, the existence of alternative therapies has resulted in an urgent need to identify patient characteristics that predict response to each therapy.METHODSWe carried out a retrospective cohort study of 210 patients with hereditary TTR amyloidosis treated with the kinetic stabilizer tafamidis (20 mg qd). These patients were followed for a period of 18-66 months, after which they were classified by an expert as responders, partial responders, or nonresponders. Correlations between baseline demographic and clinical characteristics, as well as plasma biomarkers and response to therapy, were investigated.RESULTS34% of patients exhibited an almost complete arrest of disease progression (classified by an expert as responders); 36% had a partial to complete arrest in progression of some but not all disease components (partial responders); whereas the remaining 30% continued progressing despite therapy (nonresponders). We determined that disease severity, sex, and native TTR concentration at the outset of treatment were the most relevant predictors of response to tafamidis. Plasma tafamidis concentration after 12 months of therapy was also a predictor of response for male patients. Using these variables, we built a model to predict responsiveness to tafamidis.CONCLUSIONOur study indicates long-term effectiveness for tafamidis, a kinetic stabilizer approved for the treatment of hereditary TTR amyloidosis. Moreover, we created a predictive model that can be potentially used in the clinical setting to inform patients and clinicians in their therapeutic decisions.
- Quisto dermóide do pavimento da boca: a propósito de dois casos clínicosPublication . Teixeira, S.; Rodrigues, S.; Tavares, S.; Pilar, C.; Rodrigues, C.RESUMO Os quistos dermóides são raros no pavimento da boca. Actualmente são aceites duas teorias quanto à sua etiologia: a congénita e a adquirida. Podem classificar-se de acordo com a sua origem embriológica, localização e histologia. Habitualmente apresentam-se como tumefacção mole não dolorosa, de crescimento lento, estando os sintomas dependentes da localização e suas relações de vizinhança anatómica. O tipo de abordagem cirúrgica está dependente da sua localização, sendo o prognóstico bom. Os autores apresentam os casos clínicos de duas crianças com quisto dermóide do pavimento da boca, submetidos a exérese cirúrgica. Num dos casos é colocada a hipótese de se tratarem de dois quistos síncronos. ABSTRACT Dermoid cysts of the mouth floor are rare. Two theories are accepted for their origin: congenital or acquired. Classification is based on location, embryologic origin and histologic findings. They are painless and slow growing, and symptons depend on the location and relationships with other structures. The type of surgical approach is dependent on the location, and the prognosis is good. The authors present the case report of two children with dermoid cysts of the mouth floor, who underwent surgical resection. In one of the cases it is discussed the hypothesis of being two cysts concomitantly.