Últimos itens adicionados do Acervo: Centro Hospitalar de Lisboa Central

O Repositório do Centro Hospitalar de Lisboa Central, EPE é constituído pela produção cinetífica dos hospitais: Hospital S. José, Hospital de Sto. António dos Capuchos, Hospital de Sta. Marta, Hospital D. Estefânia, Hospital Curry Cabral e Maternidade Dr. Alfredo da Costa.

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Dois Casos de Quérion por Trichophyton Mentagrophytes

Vaz Silva, I; Belo Morais, R; Francisco, T; Dessai, S; Pastilha, P; Cunha, F
Fonte: Hospital de Crianças Maria Pia - Centro Hospitalar do Porto Publicador: Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
Tipo: Artigo de Revista Científica
Publicado em //2012 Português
Introdução: O Quérion é uma forma rara e infl amatória de tinea capitis causada por fungos dermatófi tos. O diagnóstico é difi cultado pela demora no exame cultural e possibilidade de várias etiologias no diagnóstico diferencial. O tratamento é prolongado e implica o recurso a antifúngicos sistémicos. Novos fármacos têm sido considerados após a descontinuação da griseofulvina em Portugal. Casos clínicos: Apresentamos duas crianças com lesões dolorosas do couro cabeludo com reação infl amatória exuberante, exsudativa e alopécia local acompanhadas de febre. O exame bacteriológico foi negativo e o micológico revelou Trichophyton mentagrophytes. Foram medicados com fl ucloxacilina endovenosa, antifúngicos orais (griseofulvina e itraconazol), corticoide e antifúngico tópicos. A resposta foi favorável com evolução lenta para a cura com área de alopécia residual. Conclusão: Estes casos destacam -se pela sua raridade e ilustram a exuberância das manifestações clínicas desta entidade. O diagnóstico precoce, a identificação e tratamento da fonte de contágio e as medidas de higiene e vigilância sanitária são primordiais para o controlo da infecção.

Grande Queimado numa Unidade de Cuidados Intensivos Pediátricos – Experiência de 20 Anos

Francisco, T; Nóbrega, S; Valente, R; Santos, M; Pereira, G; Estrada, J; Serafim, Z; Ventura, L
Fonte: Hospital de Crianças Maria Pia - Centro Hospitalar do Porto Publicador: Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
Introdução: A abordagem inicial do grande queimado até à sua estabilização hemodinâmica e hidroeletrolítica é fundamental para diminuir a morbimortalidade. Material e Métodos: Estudo retrospectivo, descritivo e analítico, de todos os internamentos por queimadura numa Unidade de Cuidados Intensivos Pediátricos durante o período de 20 anos (Abril/1991 a Dezembro/2010). Avaliaram -se parâmetros nosodemográficos, agente causal, gravidade e extensão da queimadura, procedimentos, terapêutica, complicações e resultados. Resultados: Ocorreram 137 internamentos por queimadura correspondentes a 123 doentes e a 1,8% do total de internamentos na UCIP. A mediana de idade foi 3,6 anos e 62,4% era do sexo masculino. Verificou -se maior incidência em Agosto (13,0%). Foram agentes da queimadura: líquido fervente (38,1%), fogo (38,1%) e eletricidade (23,9%). A mediana da superfície corporal queimada foi de 30% (0,5 -92,0%), com queimaduras do terceiro grau em 59,0% dos doentes. Necessitaram de ventilação mecânica 45,5% e de cateter venoso central 64,2% dos doentes. As complicações incluíram: sépsis (29,2%), falência respiratória (21,1%), falência cardiovascular (16,5%) e falência multiorgânica (18,8%). Verificou -se melhoria em 88...

Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotypes Associated with Upregulated Type I Interferon Signaling

Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, M; Chouchane, M; Cimaz, R; Collins, AM; Cordeiro, N; Dale, R; Davidson, J; De Waele, L; Desguerre, I; Faivre, L; Faz
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer a gain-of-function - so that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.

A Pilot Cost-Effectiveness Analysis of Treatments in Newly Diagnosed High-Grade Gliomas: The Example of 5-Aminolevulinic Acid Compared With White-Light Surgery

Esteves, S; Alves, M; Castel-Branco, M; Stummer, W
Fonte: Official Journal of the Congress of Neurological Surgeons Publicador: Official Journal of the Congress of Neurological Surgeons
Tipo: Artigo de Revista Científica
Publicado em //2015 Português
BACKGROUND: High-grade gliomas are aggressive, incurable tumors characterized by extensive diffuse invasion of the normal brain parenchyma. Novel therapies at best prolong survival; their costs are formidable and benefit is marginal. Economic restrictions thus require knowledge of the cost-effectiveness of treatments. Here, we show the cost-effectiveness of enhanced resections in malignant glioma surgery using a well-characterized tool for intraoperative tumor visualization, 5-aminolevulinic acid (5-ALA). OBJECTIVE: To evaluate the cost-effectiveness of 5-ALA fluorescence-guided neurosurgery compared with white-light surgery in adult patients with newly diagnosed high-grade glioma, adopting the perspective of the Portuguese National Health Service. METHODS: We used a Markov model (cohort simulation). Transition probabilities were estimated with the use of data from 1 randomized clinical trial and 1 noninterventional prospective study. Utility values and resource use were obtained from published literature and expert opinion. Unit costs were taken from official Portuguese reimbursement lists (2012 values). The health outcomes considered were quality-adjusted life-years, lifeyears, and progression-free life-years. Extensive 1-way and probabilistic sensitivity analyses were performed. RESULTS: The incremental cost-effectiveness ratios are below €10 000 in all evaluated outcomes...

Hipertiroidismo por Secrecção Inapropriada não Tumoral de TSH

Agapito, A; Guerra, L; Afonso, A; Fonseca, F; Malheiro, F; Charneco da Costa, J
Fonte: Centro Editor Livreiro da Ordem dos Médicos Publicador: Centro Editor Livreiro da Ordem dos Médicos
Tipo: Artigo de Revista Científica
Publicado em //1992 Português
Apresenta-se um caso clínico de hipertiroidismo por secreção inapropriada não tumoral de TSH, numa mulher de 31 anos, investigado na sequência do achado de T3 e TSH elevados após tiroidecto mia. A resposta exagerada de TSH à TRH e a supressão parcial após triiodotironina aliadas à normal expressão morfológica tomodensitométrica da região selar confirmaram o diagnóstico. As terapêuticas com bromocriptina e ocjreotido revelaram-se ineficazes na supressa da TSH. O ensaio com 3-5-3’ ácido triiodotiroacético ficou deferido pela ocorrência de gravidez e aleitamento.

Neuropsychiatric Questionnaires in Systemic Lupus Erythematosus

Tani, C; Moraes-Fontes, MF; Carli, L; Mauri, M; Bombardieri, S; Mosca, M
Fonte: Centro Hospitalar de Lisboa Central Publicador: Centro Hospitalar de Lisboa Central
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Patients with systemic lupus erythematosus (SLE) can be affected by a multitude of neurologic and psychiatric symptoms with a wide range of prevalence and severity. Irrespectively from attribution to SLE or other causes, neuropsychiatric (NP) symptoms strongly impact short-term and long-term outcomes,thus NP evaluation during routine clinical practice in SLE should be undertaken regularly. The assessment of NP involvement in SLE patients is challenging and the available diagnostic tools fail to guarantee optimal diagnostic accuracy, sensitivity to changes as well as feasibility in routine clinical care. Standardised questionnaires (both physician-administered and self-reported) can offer valuable help to the treating physician to capture all possible NP syndromes; few SLE-specific NP questionnaire have been developed but validation in large cohort or cross-cultural adaptations are still pending. On the other hand, general instruments have been largely applied to SLE patients. Both kinds of questionnaires can address all possible NP manifestations either globally or, more frequently, focus on specific NP symptoms. These latter have been mainly used in SLE to detect and classify mild and subtle symptoms, more likely to be overlooked during routine clinical assessment such as headache...

The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency

Cogan, J; Wu, W; Philips III, J; Arnhold, I; Agapito, A; Fofanova, O; Osorio, MG; Birdcan, I; Moreno, A; Mendonça, B
Fonte: Endocrine Society Publicador: Endocrine Society
Tipo: Artigo de Revista Científica
Publicado em //1998 Português
Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301–302delAG deletion in exon 2 of PROP1, in 10 independently ascertained CPHD kindreds and 21 sporadic cases of CPHD from 8 different countries. Our results show that 55% (11 of 20) of PROP1 alleles have the 301–302delAG deletion in familial CPHD cases. Interestingly, although only 12% (5 of 42) of the PROP1 alleles of our 21 sporadic cases were 301–302delAG, the frequency of this allele (in 20 of 21 of the sporadic subjects given TRH stimulation tests) was 50% (3 of 6) and 0% (0 of 34) in the CPHD cases with pituitary and hypothalamic defects, respectively. Using whole genome radiation hybrid analysis, we localized the PROP1 gene to the distal end of chromosome 5q and identified a tightly linked polymorphic marker, D5S408, which can be used in segregation studies. Analysis of this marker in affected subjects with the 301–302delAG deletion suggests that rather than being inherited from a common founder...

Variant Rett Syndrome in a Girl with a Pericentric X-chromosome Inversion Leading to Epigenetic changes and Over Expression of the MECP2 Gene

Vieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, V; Moura, S; Sousa, S; Costa, B; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, P
Fonte: Elsevier Inc. Publicador: Elsevier Inc.
Tipo: Pré-impressão
Publicado em //2015 Português
Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome - 46,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that theMECP2 gene is not dislocated by the inversion. However, and in spite of a balanced pattern of X inactivation, this patient displayed hypomethylation and an overexpression of the MECP2 gene at the mRNA level in the lymphocytes (mean fold change: 2.55±0.38) in comparison to a group of control individuals; the expression of the CDKL5 gene was similar to that of controls (mean fold change: 0.98±0.10). No gains or losses were detected in the breakpoint regions encompassing known or suspectedtranscription regulatory elements.We propose that the de-regulation of MECP2 expression in this patient may be due to alterations in long-range genomic interactions caused by the inversion and hypothesize that this type of epigenetic de-regulation of the MECP2 may be present in other RTT-like patients.

Characterization of Damage in Portuguese Lupus Patients

Moraes-Fontes, MF; Riso, N
Fonte: Sage Publications Publicador: Sage Publications
Tipo: Outros
Publicado em //2015 Português

Mycetoma of the Foot—Diagnosis of the Etiologic Agent and Surgical Treatment

Mestre, T; Vieira, R; Coutinho, J
Fonte: American Society of Tropical Medicine and Hygiene Publicador: American Society of Tropical Medicine and Hygiene
Tipo: Artigo de Revista Científica
Publicado em //2015 Português

Calcinosis Universalis in Adult-Onset Dermatomyositis

Bernardino, V; Rodrigues, A; Panarra, A; Riso, N
Fonte: BMJ Publishing Group Publicador: BMJ Publishing Group
Tipo: Artigo de Revista Científica
Publicado em //2015 Português

Hemophagocytic Lymphohistiocytosis in 2 Patients with Underlying IFN-g Receptor Deficiency

Tesi, B; Sieni, E; Neves, C; Romano, F; Cetica, V; Cordeiro, AI; Chiang, S; Schlums, H; Galli, L; Avenali, S; Tondo, A; Canessa, C; Henter, J; Nordenskjold, M; Hsu, A; Holland, S; Farela Neves, J; Azzari, C; Bryceson, Y
Fonte: Elsevier Inc. Publicador: Elsevier Inc.
Tipo: Outros
Publicado em //2015 Português

Cutaneous Focal Mucinosis of the Scalp and Adenocarcinoma of the Lung: Association or Coincidence?; Mucinose Cutânea Focal do Couro Cabeludo e Adenocarcinoma do Pulmão: Associação ou Coincidência?

Mestre, T; Assis-Pacheco, F; Cardoso, J
Fonte: Sociedade Brasileira de Pneumologia e Tisiologia Publicador: Sociedade Brasileira de Pneumologia e Tisiologia
Tipo: Outros
Publicado em //2015 Português

Carcinoma Neuroendócrino de Grandes Células do Pulmão Diagnosticado a Partir de Múltiplas Metástases Cutâneas; Pulmonary Large-Cell Neuroendocrine Carcinoma Presenting as Multiple Cutaneous Metastases

Mestre, T; Rodrigues, AM; Cardoso, J
Fonte: Sociedade Brasileira de Pneumologia e Tisiologia Publicador: Sociedade Brasileira de Pneumologia e Tisiologia
Tipo: Outros
Publicado em //2015 Português

Transthyretin Amyloidosis: Chaperone Concentration Changes and Increased Proteolysis in the Pathway to Disease

Costa, G; Ribeiro-Silva, C; Ribeiro, R; Gilberto, S; Gomes, R; Ferreira, A; Mateus, E; Barroso, E; Coelho, A; Ponces Freire, A; Cordeiro, C
Fonte: PLOS Publicador: PLOS
Tipo: Artigo de Revista Científica
Publicado em //2015 Português
Transthyretin amyloidosis is a conformational pathology characterized by the extracellular formation of amyloid deposits and the progressive impairment of the peripheral nervous system. Point mutations in this tetrameric plasma protein decrease its stability and are linked to disease onset and progression. Since non-mutated transthyretin also forms amyloid in systemic senile amyloidosis and some mutation bearers are asymptomatic throughout their lives, non-genetic factors must also be involved in transthyretin amyloidosis. We discovered, using a differential proteomics approach, that extracellular chaperones such as fibrinogen, clusterin, haptoglobin, alpha-1-anti-trypsin and 2-macroglobulin are overrepresented in transthyretin amyloidosis. Our data shows that a complex network of extracellular chaperones are over represented in human plasma and we speculate that they act synergistically to cope with amyloid prone proteins. Proteostasis may thus be as important as point mutations in transthyretin amyloidosis.

Clinical Outcomes and Genetic Expression Profile in Human Liver Graft Dysfunction During Ischemia/Reperfusion Injury

Paulino, J; Vigia, E; Marcelino, P; Abade, O; Sobral, J; Ligeiro, D; Carvalho, A; Alves, M; Papoila, AL; Trindade, H; Barroso, E
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em //2015 Português
Introduction. This study aims to compare the molecular gene expression during ischemia reperfusion injury. Several surgical times were considered: in the beginning of the harvesting (T0), at the end of the cold ischemia period (T1), and after reperfusion (T2) and compared with graft dysfunction after liver transplant (OLT). Methods. We studied 54 patients undergoing OLT. Clinical, laboratory data, and histologic data (Suzuki classification) as well as the Survival Outcomes Following Liver Transplantation (SOFT) score were used and compared with the molecular gene expression of the following genes: Interleukin (IL)-1b, IL-6, tumor necrosis factor-a, perforin, E-selectin (SELE), Fas-ligand, granzyme B, heme oxygenase-1, and nitric oxide synthetase. Results. Fifteen patients presented with graft dysfunction according to SOFT criteria. No relevant data were obtained by comparing the variables graft dysfunction and histologic variables. We observed a statistically significant relation between SELE at T0 (P ¼ .013) and IL-1b at T0 (P ¼ .028) and early graft dysfunction. Conclusions. We conclude that several genetically determined proinflammatory expressions may play a critical role in the development of graft dysfunction after OLT.

Liver Depurative Techniques: A Single Liver Transplantation Center Experience

Rodrigues, J; Castro, S; Moya, B; Fortuna, P; Martins, A; Pereira, JP; Bento, L; Perdigoto, R; Barroso, E; Marcelino, P
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em //2015 Português
In a liver transplant (LT) center, treatments with Prometheus were evaluated. The main outcome considered was 1 and 6 months survival. Methods. During the study period, 74 patients underwent treatment with Prometheus; 64 were enrolled,with a mean age of 51 13 years; 47men underwent 212 treatments (mean, 3.02 per patient). The parameters evaluated were age, sex, laboratorial (liver enzymes, ammonia) and clinical (model for end-stage liver disease and Child-Turcotte-Pugh score) data. Results. Death was verified in 23 patients (35.9%) during the hospitalization period, 20 patients (31.3%) were submitted to liver transplantation, and 21 were discharged. LT was performed in 4 patients with acute liver failure (ALF, 23.7%), in 7 patients with acute on chronic liver failure (AoCLF, 43.7%), and in 6 patients with liver disease after LT (30%). Seven patients who underwent LT died (35%). In the multivariate analysis, older age (P ¼ .015), higher international normalized ratio (INR) (P ¼ .019), and acute liver failure (P ¼ .039) were independently associated with an adverse 1-month clinical outcome. On the other hand, older age (P ¼ .011) and acute kidney injury (P ¼ .031) at presentation were both related to worse 6-month outcome. For patients with ALF and AoCLF we did not observe the same differences. Conclusions. In this cohort...

Infections After Liver Transplantation: A Retrospective, Single-Center Study

Antunes, M; Teixeira, A; Fortuna, P; Moya, B; Martins, A; Bagulho, L; Pereira, JP; Bento, L; Perdigoto, R; Barroso, E; Marcelino, P
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em //2015 Português
Objective. To access the incidence of infectious problems after liver transplantation (LT). Design. A retrospective, single-center study. Materials and Methods. Patients undergoing LT from January 2008 to December 2011 were considered. Exclusion criterion was death occurring in the first 48 hours after LT. We determined the site of infection and the bacterial isolates and collected and compared recipient’s variables, graft variables, surgical data, post-LT clinical data. Results. Of the 492 patients who underwent LT and the 463 considered for this study, 190 (Group 1, 41%) developed at least 1 infection, with 298 infections detected. Of these, 189 microorganisms were isolated, 81 (51%) gram-positive bacteria (most frequently Staphylococcus spp). Biliary infections were more frequent (mean time of 160.4 167.7 days after LT); from 3 months after LT, gram-negative bacteria were observed (57%). Patients with infections after LT presented lower aminotransferase levels, but higher requirements in blood transfusions, intraoperative vasopressors, hemodialysis, and hospital stay. Operative and cold ischemia times were similar. Conclusion. We found a 41% incidence of all infections in a 2-year follow-up after LT. Gram-positive bacteria were more frequent isolated; however...

O Papel da Aspirina na Prevenção da Pré-Eclâmpsia: Estado da Arte; The Role of Aspirin in Preeclampsia Prevention: State of the Art

Campos, A
Fonte: Centro Editor e Livreiro da Ordem dos Médicos Publicador: Centro Editor e Livreiro da Ordem dos Médicos
Tipo: Artigo de Revista Científica
Publicado em //2015 Português
Introdução: O papel do ácido acetilsalicílico (AAS ou aspirina) na prevenção das complicações associadas à pré-eclâmpsia tem sido objeto de estudos e de controvérsias ao longo de 30 anos. Os primeiros trabalhos de investigação acerca do papel da placenta na génese da pré-eclâmpsia surgiram em finais dos anos 70 e assinalavam um aumento da atividade plaquetária e alteração da síntese das prostaglandinas, como consequência da deficiente adaptação da placenta. Ao longo dos últimos 20 anos do século XX, sucederam-se estudos de investigação acerca do papel profilático da aspirina na redução do risco de pré-eclâmpsia. Material e Métodos: Para analisar os trabalhos publicados sobre o uso da aspirina na prevenção da pré-eclâmpsia, bem como sobre a dose mais adequada e momento de administração, foram consultados apenas estudos prospetivos, revisões sistemáticas e meta-análises através das seguintes fontes pesquisa (PubMed, Cochrane, Embase). Os artigos citados foram considerados os mais relevantes. Os trabalhos foram divididos em dois grupos: no primeiro foram incluídos os trabalhos em que a aspirina era administrada até às 16 semanas e o segundo, com início de administração por um período mais alargado. Resultados e Discussão: No primeiro grupo...

Disturbed Correlation Between Arterial Resistance and Pulsatility in Glaucoma Patients

Abegão Pinto, L; Vandewalle, E; Stalmans, I
Fonte: Wiley Publicador: Wiley
Tipo: Artigo de Revista Científica
Publicado em //2012 Português
PURPOSE: (i) To investigate whether pulsatility index (PI) and mean flow velocities (MFV) are altered in glaucoma patients. (ii) To evaluate the significance of PI in retrobulbar autoregulation capacity. METHODS: Patients with primary open-angle glaucoma (POAG; n = 49), normal tension glaucoma (NTG; n = 62) and healthy controls (n = 48) underwent colour Doppler imaging measurements of the retrobulbar vasculature. Kruskal-Wallis test was used to compare variables between the three diagnostic groups. Restricted cubic splines were used to determine nonlinearities between the resistive index (RI) and PI correlations. RESULTS: Mean flow velocities (MFV) were lower in both short posterior ciliary arteries (SCPA) and central retinal arteries (CRA) from the two glaucoma groups (p < 0.04 versus healthy controls). No differences were detected in RI or PI in any arteries of the three diagnostic groups (p > 0.08). In healthy individuals, correlations between RI and PI were linear in all arteries. In both POAG and NTG patients, CRA presented a nonlinear curve with a cutpoint at RI 0.77 (p < 0.001) and 0.61 (p = 0.03), respectively, above which the slope increased nearly five- and tenfold (POAG: 1.96 to 10.06; NTG: -0.46-4.06), respectively. A nonlinear correlation in the ophthalmic artery was only observed in NTG patients...