Browsing by Author "Ferreira, T"
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- Amaurose súbita e doença falciforme: a propósito de um casoPublication . Oliveira, J; Nunes, P; Ferreira, T; Correia, P; Dias, A; Teixeira, S; Silva, F; Bernardo, MOs autores apresentam o caso clínico de uma criança com doença falciforme, internada por choque séptico com meningite e pneumonia a Streptococcus pneumoniae. No decurso do internamento surgiu amaurose súbita à esquerda e herpes mucocutâ- neo labial. O exame oftalmológico foi sugestivo de oclusão arterial no olho esquerdo e de necrose retiniana viral à direita, pelo que foi instituída terapêutica antiviral e anticoagulante. A evolução clínica e imagiológica foi compatível com necrose retiniana aguda. Verificou-se ligeira melhoria da acuidade visual à direita (6/10) mas persistiu um défice grave da acuidade visual à esquerda (< 1/10). A necrose retiniana aguda é um evento raro em idade pediátrica, cujo diagnóstico diferencial inclui outras causas de amaurose súbita.
- CHARACTERIZATION OF THE POPULATION OF PREGNANT WOMEN ATTENDING A MENTAL HEALTH SERVICEPublication . Ferreira, T; Dehanov, S; Oliveira, C; Castro, S; Ribeiro, R; Maia, TIntroduction: Psychopathological symptoms are common during pregnancy and their detection and referral to specialized care is often suboptimal. The aim of this study was to perform a descriptive analysis of sociodemographic, mental health, and obstetric features of a population of pregnant women followed at Psychiatry consultation. Methodology: This was a cross-sectional, descriptive study of women followed both at Gynecology/Obstetrics and Psychiatry consultations of Hospital Prof. Doutor Fernando Fonseca between 2014 and 2016. A total of 76 women were included, for whom pre-defined features associated in the literature with risk of developing psychopathological symptoms during pregnancy were collected. Results and Discussion: Risk factors identified in the development of depressive symptoms included absence of an affective relationship during pregnancy (n=11; 14.5%), being first-generation immigrant (n=17; 22.4%), and substance use before (n=18; 23.7%) or during (n=10; 13.1%) pregnancy. Sample was divided into women with previous Psychiatry follow-up who became pregnant (n=44; 57.9%) and women referred to Psychiatry consultation during pregnancy (n=32; 42.1%). In the second group, 18.8% (n=6) of referrals were from primary health care, being relevant to understand whether this represents an under-referral. Prescription of 21 risk category D drugs was identified, alerting to the need of caution in pharmacological prescription and of considering non-pharmacological options (e.g., cognitive-behavioral therapy) for management of these cases. Conclusions: Risk factors identified in this study represent an opportunity to optimize clinical practice and improve these patients’ follow-up
- Hemorheological alterations in sickle cell anemia and their clinical consequences: the role of genetic modulators.Publication . Silva, M; Vargas, S; Coelho, A; Dias, A; Ferreira, T; Morais, A; Maia, R; Kjöllerström, P; Lavinha, J; Faustino, PSickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. The disease presents with high clinical heterogeneity characterized by chronic hemolysis, recurrent episodes of vaso-oclusion and infection. This work aimed to characterize by in silico studies some genetic modulators of severe hemolysis and stroke risk in children with SCA, and understand their consequences at the hemorheological level.Association studies were performed between hemolysis biomarkers as well as the degree of cerebral vasculopathy and the inheritance of several polymorphic regions in genes related with vascular cell adhesion and vascular tonus in pediatric SCA patients. In silico tools (e.g. MatInspector) were applied to investigate the main variant consequences.Variants in vascular adhesion molecule-1 (VCAM1) gene promoter and endothelial nitric oxide synthase (NOS3) gene were significantly associated with higher degree of hemolysis and stroke events. They potentially modify transcription factor binding sites (e.g. VCAM1 rs1409419_T allele may lead to an EVI1 gain) or disturb the corresponding protein structure/function. Our findings emphasize the relevance of genetic variation in modulating the disease severity due to their effect on gene expression or modification of protein biological activities related with sickled erythrocyte/endothelial interactions and consequent hemorheological abnormalities.
- Mania de Bell - conceptualização a propósito de um caso clínicoPublication . Ferreira, T; Dehanov, S; Nascimento, M; Trancas, B; Ribeiro, R; Maia, TIntrodução: A mania de Bell (ou “mania delirante”) constitui um quadro clínico grave, que consiste sucintamente na sobreposição de sintomas de delirium e de mania. Vários autores deram contributos para a definição desta entidade nosológica, não obstante este ser um quadro clínico ainda mal compreendido, não existindo guidelines diagnósticas e terapêuticas, nem se conhecendo muito da sua etiopatogénese. Objectivos: Apresentar um caso de clínico de um doente que foi admitido numa enfermaria de psiquiatria, apresentando sintomatologia compatível com mania de Bell, sendo ainda discutida a marcha diagnóstica e terapêutica do caso e feita uma revisão da literatura. Métodos: Revisão não sistemática de artigos pesquisados no PubMed. Resultados e Conclusões: O estabelecimento da mania de Bell como subtipo de episódio maníaco seria útil não apenas para uniformização do seu diagnóstico como também para formulação de recomendações terapêuticas adequadas e maior informação à comunidade científica sobre este quadro clínico.
- Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage productsPublication . Silva-Fernandes, A; Costa, MC; Duarte-Silva, S; Oliveira, P; Botelho, C; Martins, L; Mariz, J; Ferreira, T; Ribeiro, F; Correia-Neves, M; Costa, C; Maciel, PMachado-Joseph disease (MJD) is a late-onset neurodegenerative disorder caused by a polyglutamine (polyQ) expansion in the ataxin-3 protein. We generated two transgenic mouse lineages expressing the expanded human ataxin-3 under the control of the CMV promoter: CMVMJD83 and CMVMJD94, carrying Q83 and Q94 stretches, respectively. Behavioral analysis revealed that the CMVMJD94 transgenic mice developed motor uncoordination, intergenerational instability of the CAG repeat and a tissue-specific increase in the somatic mosaicism of the repeat with aging. Histopathological analysis of MJD mice at early and late stages of the disease revealed neuronal atrophy and astrogliosis in several brain regions; however, we found no signs of microglial activation or neuroinflammatory response prior to the appearance of an overt phenotype. In our model, the appearance of MJD-like symptoms was also not associated with the presence of ataxin-3 cleavage products or intranuclear aggregates. We propose the transgenic CMVMJD94 mice as a useful model to study the early stages in the pathogenesis of MJD and to explore the molecular mechanisms involved in CAG repeat instability.
- Neonatal Screening for Haemoglobinopathies: The Experience of a Level II Hospital in the Lisbon Metropolitan AreaPublication . Teixeira, AT; Garcia, C; Ferreira, T; Dias, A; Trindade, C; Barroso, RIntrodução: As hemoglobinopatias são doenças genéticas, causadas por alterações da produção de hemoglobina, das quais se destacam, pela gravidade e prevalência, a doença falciforme e as síndromes talassémicas. O diagnóstico precoce das hemoglo - binopatias é essencial, permitindo a implementação de medidas que reduzem a morbilidade e a mortalidade nestes doentes. Este estudo caracteriza uma amostra de recém-nascidos incluídos num programa de rastreio de hemoglobinopatias no ano de 2013, num hospital de nível II na área metropolitana de Lisboa. Métodos: Estudo retrospetivo descritivo baseado em dados colhidos nos registos clínicos e laboratoriais hospitalares de crian - ças nascidas entre 1 de janeiro e 31 de dezembro de 2013 com origem familiar em áreas de risco indicadas pela Direção Geral da Saúde ou com história familiar de hemoglobinopatia. Aos recém-nascidos incluídos foi realizado hemograma e eletroforese de hemoglobinas entre o primeiro e o terceiro dia de vida. Resultados: Realizados 739 rastreios (27,7% das crianças nascidas neste período). Foram detetadas 86 (12%) variantes do padrão normal de hemoglobinas, incluindo três casos de doença falciforme (dois casos de hemoglobinopatia SS e um caso de hemoglobinopatia SC) e 83 casos de portadores de hemoglobinopatias. Todos os recém-nascidos com variantes de hemoglo - bina foram observados em consulta de hematologia pediátrica. Discussão: Este rastreio permitiu a deteção precoce de novos casos de doença falciforme, com consequente melhoria dos cuidados prestados a estes doentes, e a deteção de portadores, possibilitando o aconselhamento às famílias.
- Partial Red Blood Cell Exchange in Children and Young Patients with Sickle Cell Disease: Manual Versus Automated Procedure.Publication . Escobar, C; Moniz, M; Nunes, P; Abadesso, C; Ferreira, T; Barra, A; Lichtner, A; Loureiro, H; Dias, A; Almeida, HINTRODUCTION: The benefits of manual versus automated red blood cell exchange have rarely been documented and studies in young sickle cell disease patients are scarce. We aim to describe and compare our experience in these two procedures. MATERIAL AND METHODS: Young patients (≤ 21 years old) who underwent manual- or automated-red blood cell exchange for prevention or treatment of sickle cell disease complications were included. Clinical, technical and hematological data were prospectively recorded and analyzed. RESULTS: Ninety-four red blood cell exchange sessions were performed over a period of 68 months, including 57 manual and 37 automated, 63 for chronic complications prevention, 30 for acute complications and one in the pre-operative setting. Mean decrease in sickle hemoglobin levels was higher in automated-red blood cell exchange (p < 0.001) and permitted a higher sickle hemoglobin level decrease per volume removed (p < 0.001), while hemoglobin and hematocrit remained stable. Ferritin levels on chronic patients decreased 54%. Most frequent concern was catheter outflow obstruction on manual-red blood cell exchange and access alarm on automated-red blood cell exchange. No major complication or alloimunization was recorded. DISCUSSION: Automated-red blood cell exchange decreased sickle hemoglobin levels more efficiently than manual procedure in the setting of acute and chronic complications of sickle cell disease, with minor technical concerns mainly due to vascular access. The threshold of sickle hemoglobin should be individualized for clinical and hematological goals. In our cohort of young patients, the need for an acceptable venous access was a limiting factor, but iron-overload was avoided. CONCLUSION: Automated red blood cell exchange is safe and well tolerated. It permits a higher sickle hemoglobin removal efficacy, better volume status control and iron-overload avoidance.
- Sleep pathology characterization in sickle cell disease: case-control studyPublication . Mascarenhas, MI; Loureiro, HC; Ferreira, T; Dias, ABACKGROUND: Children and adolescents with sickle cell disease (SCD) have a higher incidence of sleep pathology and obstructive sleep apnea syndrome (OSAS). The nocturnal hypoxemia is a risk to vaso-occlusive crisis among other SCD morbidities. Our aim was to compare polysomnography (PSG) results in a sample of children with SCD with a sample of children with suspected OSAS without SCD. DESIGN AND METHODS: A retrospective study compared clinical and PSG parameters. A descriptive analysis and t-test were done considering P < 0.05 as significant. RESULTS: PSG was done in 65 children with SCD and 65 control-children. Control sample was selected to be equal to SCD sample considering gender (53.8% were male), age (mean age was 9.4 years (SD ± 4.6) and AHI (mean 3.57 events/hr). Mean efficiency, latency and percentage of sleep phases in both groups showed no statistically significant differences. Mean SpO2 and minimum SpO2 were lower in SCD group and it was statistically significant (P < 0.01). Enuresis was more frequent in the SCD children group (35.4% vs. 6.2%, P < 0.01). CONCLUSION: Comparing children with and without SCD, sleep architecture was similar in both groups and minimum SpO2 was significantly lower in SCD children although both groups had a similar AHI. This is an important issue in these children, so it is essential to have a sleep evaluation in order to prevent complications and co-morbidities.
- Transfusão Permuta Parcial em Crianças e Jovens com Doença Falciforme: Comparação da Experiência Manual com o Procedimento AutomatizadoPublication . Escobar, C; Moniz, M; Nunes, P; Abadesso, C; Ferreira, T; Barra, A; Lichtner, A; Loureiro, H; Dias, A; Almeida, HINTRODUCTION: The benefits of manual versus automated red blood cell exchange have rarely been documented and studies in young sickle cell disease patients are scarce. We aim to describe and compare our experience in these two procedures. MATERIAL AND METHODS: Young patients (≤ 21 years old) who underwent manual- or automated-red blood cell exchange for prevention or treatment of sickle cell disease complications were included. Clinical, technical and hematological data were prospectively recorded and analyzed. RESULTS: Ninety-four red blood cell exchange sessions were performed over a period of 68 months, including 57 manual and 37 automated, 63 for chronic complications prevention, 30 for acute complications and one in the pre-operative setting. Mean decrease in sickle hemoglobin levels was higher in automated-red blood cell exchange (p < 0.001) and permitted a higher sickle hemoglobin level decrease per volume removed (p < 0.001), while hemoglobin and hematocrit remained stable. Ferritin levels on chronic patients decreased 54%. Most frequent concern was catheter outflow obstruction on manual-red blood cell exchange and access alarm on automated-red blood cell exchange. No major complication or alloimunization was recorded. DISCUSSION: Automated-red blood cell exchange decreased sickle hemoglobin levels more efficiently than manual procedure in the setting of acute and chronic complications of sickle cell disease, with minor technical concerns mainly due to vascular access. The threshold of sickle hemoglobin should be individualized for clinical and hematological goals. In our cohort of young patients, the need for an acceptable venous access was a limiting factor, but iron-overload was avoided. CONCLUSION: Automated red blood cell exchange is safe and well tolerated. It permits a higher sickle hemoglobin removal efficacy, better volume status control and iron-overload avoidance.
- Transfusão permuta parcial no tratamento de complicações agudas na drepanocitosePublication . Escobar, C; Moniz, M; Mascarenhas, I; Silvestre, C; Nunes, P; Abadesso, C; Ferreira, T; Loureiro, H; Barra, A; Dias, A; Almeida, HIIntrodução: A doença das células falciformes ou drepanocitose pode ter consequências graves e as transfusões têm um papel fundamental no prognóstico da doença. Existem poucos estudos sobre a utilização da técnica manual de transfusão permuta ou exsanguíneo-transfusão parcial de glóbulos vermelhos no tratamento de complicações agudas da drepanocitose na população pediátrica. A técnica pretende diminuir os níveis de hemoglobina S, mantendo estáveis a concentração de hemoglobina e o hematrócrito, evitando a sobrecarga hídrica e de ferro. Neste trabalho é descrita a experiência dos autores de utilização de transfusão permuta parcial. Métodos: Estudo observacional e descritivo de crianças com células falciformes internadas numa unidade de cuidados intensivos pediátricos entre janeiro de 2011 e dezembro de 2013 e que realizaram transfusão permuta parcial manual. Resultados: Foram realizados dez procedimentos a sete doentes . A mediana da idade era de nove e todos eram homozigóticos para hemoglobina S. A indicação foi acidente vascular cerebral num e síndrome torácica aguda em nove. A mediana da redução de hemoglobina S foi de 27% com incremento de hemoglobina de 0,1g/dL. A mediana do volume trocado foi de cerca de 24mL/kg e a técnica demorou 60-120 minutos. As complicações foram obstrução do lúmen do cateter, hipotensão e hipotermia. Todos os doentes apresentaram melhoria clínica, exceto no acidente vascular cerebral. Discussão: A transfusão permuta parcial manual é uma técnica simples e segura, associada a bons resultados clínicos, e que pode ser realizada em unidades de pediatria sem equipamento de eritrocitaferese nem diferenciação específica, permitindo assim uma expansão das opções terapêuticas das complicações agudas da drepanocitose.