Browsing by Author "Lopes, A."
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- Anafilaxia induzida por fármacos: Registo Nacional 2007-2010Publication . Faria, E.; Rodrigues-Cernadas, J.; Gaspar, A.; Botelho, C.; Castro, E.; Lopes, A.; Gomes, E.; Malheiro, D.; Cadinha, S.; Campina-Costa, S.; Neto, M.; Sousa, N.; Rodrigues-Alves, R.; Romeira, A.; Caiado, J.; Morais-Almeida, M.Introdução: A anafilaxia a fármacos constitui uma situação potencialmente fatal e imprevisível, desconhecendo-se a real prevalência em diferentes grupos populacionais e os factores de risco relacionados.Objectivo: Contribuir para o melhor conhecimento epidemiológico da anafilaxia induzida por fármacos no nosso país. Métodos: Durante um período de 4 anos (Janeiro de 2007 a Dezembro de 2010) foi implementado um sistema de notificação nacional de anafilaxia, focalizado na notificação voluntária por clínicos com diferenciação em patologia imunoalérgica. Foram recebidas e analisadas notificações de anafilaxia a fármacos de 313 doentes. No estudo estatístico foram aplicados testes de distribuição e análise de regressão logística múltipla para obter significância e coeficientes de regressão e efeitos marginais. Resultados: A média de idade foi de 43,8 ±17,4 anos, sendo 8% de idade inferior a 18 anos. A relação género feminino/masculino foi de 2/1. A média de idade do primeiro episódio foi de 39 ±18,2 anos. Nove doentes apresentaram mais que uma causa de anafilaxia, correspondendo a um total de 322 notificações de grupos de fármacos envolvidos. As principais causas da anafilaxia a fármacos foram os anti-inflamatórios não esteróides (AINEs), os antibióticos e os agentes anestésicos, com respectivamente 48%, 36% e 6% dos casos. Outros fármacos implicados foram citostáticos, corticosteróides, inibidores da bomba de protões e meios de contraste iodados, entre outros. Houve predomínio de manifestações mucocutâneas (92%), seguido de respiratórias (81%) e de cardiovasculares (49%). Os doentes com anafilaxia a AINEs apresentaram aumento significativo da associação de manifestações mucocutâneas e respiratórias. Não foram observadas diferenças significativas em idade, género ou antecedentes de atopia entre os diferentes grupos de fármacos envolvidos. As reacções ocorreram em ambiente hospitalar em 45% dos casos. Em 53% nos 15 minutos após a administração do fármaco e 35% motivaram internamento. A recorrência da anafilaxia foi observada em 26% e o risco foi significativamente mais elevado nos casos de anafilaxia a AINEs. Apenas 48% dos doentes receberam tratamento com adrenalina e somente em 9% dos casos foi prescrito dispositivo para auto-administração de adrenalina. Conclusões: Neste estudo os AINEs foram os fármacos mais frequentes e os mais associados a recorrência de anafilaxia. Destaca -se o sub-tratamento com adrenalina e a necessidade de serem tomadas medidas no sentido do tratamento eficaz e da prevenção da recorrência de anafilaxia a fármacos.
- Angiogenesis in NSCLC: is vessel co-option the trunk that sustains the branches?Publication . Coelho, A.; Gomes, M.; Catarino, R.; Rolfo, C.; Lopes, A.; Medeiros, R.; Araújo, A.The critical role of angiogenesis in tumor development makes its inhibition a valuable new approach in therapy, rapidly making anti-angiogenesis a major focus in research. While the VEGF/VEGFR pathway is the main target of the approved anti-angiogenic molecules in NSCLC treatment, the results obtained are still modest, especially due to resistance mechanisms. Accumulating scientific data show that vessel co-option is an alternative mechanism to angiogenesis during tumor development in well-vascularized organs such as the lungs, where tumor cells highjack the existing vasculature to obtain its blood supply in a non-angiogenic fashion. This can explain the low/lack of response to current anti-angiogenic strategies. The same principle applies to lung metastases of other primary tumors. The exact mechanisms of vessel co-option need to be further elucidated, but it is known that the co-opted vessels regress by the action of Angiopoietin-2 (Ang-2), a vessel destabilizing cytokine expressed by the endothelial cells of the pre-existing mature vessels. In the absence of VEGF, vessel regression leads to tumor cell loss and hypoxia, with a subsequent switch to a neoangiogenic phenotype by the remaining tumor cells. Unravelling the vessel co-option mechanisms and involved players may be fruitful for numerous reasons, and the particularities of this form of vascularization should be carefully considered when planning anti-angiogenic interventions or designing clinical trials for this purpose. In view of the current knowledge, rationale for therapeutic approaches of dual inhibition of Ang-2 and VEGF are swiftly gaining strength and may serve as a launchpad to more successful NSCLC anti-vascular treatments.
- [Choroidal type aneurysmal malformation of the vein of Galen associated with Dandy‐Walker malformation in an adult]Publication . Ribeiro, V.; Botelho, L.; Lopes, A.; Ribeiro, P.; Xavier, J.; Teixeira, J.; Cruz, R.A distrofia muscular congénita (DMC) é uma das distrofias mais frequentes da infância, caracterizada por fraqueza muscular neonatal, com ou sem envolvimento do Sistema Nervoso central (SNC). As DMCs foram classificadas em cinco tipos clínicos diferentes: as duas formas de DMC clássica, com e sem défice da cadeia a2- laminina da merosina, causada por mutações do gene no cromossoma 6q2, a DMC de Fukuyama (forma clinicamente severa, inicialmente descrita em Japoneses e ligada ao cromossoma 9q31-33), a síndrome Walker-Warburg e a Doença músculoolhos- cérebro, descrita em doentes Finlandeses. A maioria destas formas tem envolvimento clínico e imagiológico severo do SNC. Este aspecto, raramente é observado na DMC clássica, particularmente na forma merosina positiva. Descrevemos o caso de uma doente de 28 anos, com sinais clínicos e histopatológicos de DMC clássica, não deficiente em merosina (merosina positiva). Não tem atraso mental, mas apresenta epilepsia. A RM revela, nas ponderações de TR longo, hipersinal difuso e simétrico da substância branca de ambos os hemisférios cerebrais, atingindo também o corpo caloso, braços posteriores das cápsulas internas e a via piramidal até ao mesencéfalo. O sinal dos gânglios da base é também anormal, observando-se hipersinal difuso e simétrico dos corpos estriados, sobretudo da cabeça dos núcleos caudados. Associa-se displasia cortical occipital posterior bilateral. Este padrão imagiológico poderá corresponder a um novo subtipo de DMC, híbrido entre a DMC clássica e as formas graves, embora não se saiba qual o seu lugar no espectro. Além disso, o nosso caso relembra o possível envolvimento do SNC em doentes merosinapositivos, pelo que sugerimos a realização de RM a todos os doentes com DMC não deficientes em merosina.
- Cistinúria – Revisão da literatura e investigação das suas bases genéticas em 4 doentesPublication . Lopes, A.; Barbosa, M.; Mota, C.; Alves, S.; Martins, E.; Mota, M.C.; Quelhas, D.; Lacerda, L.; Cardoso, M.L.Introdução: Classicamente, e com base na apresentação fenotípica, os doentes com cistinúria classificavam-se em tipo I e tipo não I. Mais recentemente e com base nos aspectos genéticos da doença podemos identificar: o tipo A, causada por mutações no gene SLC3A1, o tipo B, causada por mutações no gene SLC7A9 Objectivos e metodologia: O objectivo deste trabalho foi rever o estado actual do conhecimento no que se refere ao diagnóstico, incidência/prevalência, classificação bioquímica, aspectos genéticos e tratamento desta patologia e caracterizar a nível molecular quatro casos com diagnóstico clínico e/ou bioquímico de cistinúria através da sequenciação dos genes SLC3A1 e SLC7A9. Resultados: No gene SLC3A1 foram detectadas cinco mutações, duas das quais são novas (c.1597T>A e c.611-2A>C) e três previamente descritas na literatura (c.647C>T; c.1190A>G e c.2019C>G). A sequenciação do gene SLC7A9 revelou a presença de uma mutação previamente descrita (c.614_615insA). Foi possível classificar três doentes tipo A (um homozigoto e dois heterozigotos compostos) e um doente como heterozigoto tipo B, o que está de acordo com a excreção urinária de cistina observada. Conclusões: A caracterização genotípica dos doentes cistinúricos contribui para o esclarecimento da patofisiologia da doença, permite efectuar a confirmação do diagnóstico clínico e bioquímicoe oferecer o aconselhamento genético aos familiares em risco. Os autores salientam a importância de uma abordagem multidisciplinar na estratégia de seguimento destes doentes. ABSTRACT Introduction: Classically, based on the phenotype, two types of cystinuria were identifi ed and classifi ed as type I and non-type I. More recently a new classification was proposed based on molecular genetics: cystinuria type A (caused by mutations on SLC3A1 gene), type B (involving mutations on SLC7A9 gene) and type AB if there is a digenic inheritance (SLC3A1 and SLC7A9). Objective and methodology: We reviewed the state of the art on the diagnosis, incidence/prevalence, biochemical classification, genetic data and treatment of cystinuria. Furthermore we characterized four patients with cystinuria at molecular level by sequencing SLC3A1 and SLC7A9 genes. Results: On SLC3A1 we detect five mutations, two of them (c.1597T>A and c.611-2A>C) are novel and three (c.647C>T; c.1190A>G and c.2019C>G) were been previously reported in literature. Sequencing of SLC7A9 gene showed one (c.614_615insA) previously published mutation. It was possible to classify three type A patients (one homozygote and two compound heterozygotes) and one patient as heterozygous type B, which is consistent with the observed urinary excretion of cystine. Conclusions: Genotypic characterization of patients with cystinuria contributes to the understanding of the pathophysiology, confirms the clinical and biochemical diagnosis and provides genetic counseling to relatives at risk. The authors underline the need of a multidisciplinary team approach in the follow-up of these patients.
- De uma Convulsão com Rabdomiólise ao Diagnóstico Familiar de Doença de McArdlePublication . Sousa, S.; Gabriel, J.P.; Pereira, L.; Lopes, A.; Quaresma, M.; Rocha, H.; Chorão, R.RESUMO As miopatias metabólicas são doenças provocadas por defeitos na utilização das reservas energéticas dos tecidos musculares. Apresentam-se por intolerância ao exercício, com fadiga ou mialgias e, por vezes, com mioglobinúria. A Doença de McArdle (doença de armazenamento do glicogénio tipo V) é uma doença deste grupo, com um modo de transmissão autossómico recessivo, causada por mutações no gene PYGM, localizado no cromosoma 11 (11q13), que resultam numa de ciência da fosforilase muscular. Apresentamos o caso clínico de um adolescente de quinze anos, em que foi feito o diagnóstico de Doença de McArdle após internamento por rabdomiólise maciça no contexto de crise convulsiva generalizada tónico-clónica. Estudos moleculares permitiram a identificação da mutação p.R50X em homozigotia, no probando, no pai e numa irmã.
- Depression and anxiety in living kidney donation: evaluation of donors and recipients.Publication . Lopes, A.; Frade, I.C.; Teixeira, L.; Oliveira, C.; Almeida, M.; Dias, L.; Henriques, A.C.Transplant Proc. 2011 Jan-Feb;43(1):131-6. Depression and anxiety in living kidney donation: evaluation of donors and recipients. Lopes A, Frade IC, Teixeira L, Oliveira C, Almeida M, Dias L, Henriques AC. SourceLyaison-Psychiatry and Health Psychology Unit, Oporto Hospital Centre, Oporto, Portugal. lopealice@gmail.com Abstract BACKGROUND: Psychosocial status of donors before and after living kidney donor transplantation has been an important concern. Investigations of psychosocial issues in related recipients are not frequent. AIM: The aims of this study were to evaluate and compare psychopathologic dimensions in donors and recipients before and after transplantation. METHODS: Thirty-five recipients and 45 donors completed a psychosocial evaluation before and after transplantation. We applied Pearson chi-square, McNemar, Fisher, Wilcoxon, and Mann-Whitney tests as well as linear and logistic regression statistical methods. RESULTS: Before transplantation 100% of the recipients presented total anxiety, compared with 64.4% of donors, with higher anxiety levels in all dimensions (P < .001). Also, 38.7% of recipients and 16.3% of donors had moderate/serious depression (P = .029). Men showed higher levels of cognitive anxiety before transplantation (odds ratio [OR] = 4.3; P = .008). After versus before transplantation central nervous system and cognitive anxiety had diminished in recipients (P = .031; P = .035, respectively); there were higher levels of cognitive anxiety than among the donors (P = .007). Depression showed no significant changes in recipients or donors; the differences were no longer significant. There were less severely depressed recipients but an increase among severely depressed donors. Male recipients and donors showed greater cognitive anxiety (P = .02; P = .04, respectively) at both times. Female recipients presented with more severe depression (P = .036). CONCLUSIONS: Anxiety is an important symptom. Surgery had a positive impact to lower anxiety in recipients. Most protagonists displayed little or no depression; it was more prevalent among recipients. Donors and recipients maintained some psychopathologic symptoms after surgery. We defined vulnerable groups among these cohorts. Copyright © 2011 Elsevier Inc. All rights reserved.
- Impact Assessment in Living Kidney Donation: Psychosocial AspectsPublication . Frade, I.C.; Fonseca, Isabel; Dias, L.; Henriques, A.C.; Martins, La Salete; Santos, J.; Sarmento, M.; Lopes, A.ABSTRACT Background. Living donor kidney transplantation has positive influence on graft survival and recipient quality of life (QoL)We assessed the psychosocial impact of donation to the donor. Methods. Before and after the procedure 32 living kidney donors (mean age 41 years) completed the Zung Self-Rating Anxiety and Depression Scales; Sociodemographic, Short-Form 36 Health Survey (SF-36)and Donation Perceptions Questionnaire. Results. Living kidney donors were siblings (62.5%)parents (34.4%)or daughter (3.1%)Transplantation was not successful in two cases: one recipient death and one graft failure. No significant changes were observed in donor QoL except for the SF-36 social functioning subscale that showed significant improvement after donation (.038) reduction in depression symptom frequency was verified after donation (from 65.6% to 46.9%)There was an almost significant decrease in depression scores (.077)which was in fact was significant when one considered only successful transplants (.021)There was no significant variation in anxiety scores among donors. Time since transplantation was inversely correlated with overall anxiety (.443, .011)and with somatic anxiety subscales (.357, .045)For most donors, the decision to donate was easy and spontaneous. Nearly all donors would donate again and strongly encourage others to donate. Conclusions. Except for the social functioning scale that improved, no significant changes were observed in QoL of living kidney donors after the procedure. Depression scores significantly decreased after donation, but anxiety scores remained stable. Donors, who were mostly siblings, showed positive perceptions about donation, did not regret their decision, and strongly recommend it to others.
- Neuro-Behçet: MR study of a group of patientsPublication . Ramos, C.; Sá, G.; Tedim Cruz, V.; Lopes, A.; Xavier, J.; Cruz, R.Acta Med Port. 2006 Nov-Dec;19(6):494-8. Epub 2007 May 14. [Neuro-Behçet: MR study of a group of patients] [Article in Portuguese] Ramos C, Sá G, Tedim Cruz V, Lopes A, Xavier J, Cruz R. Serviço de Neurorradiologia, Hospital Geral de Santo António, Porto, Portugal. Abstract Behçet's disease is a chronic inflammatory, multisystemic disease of unknown aetiology. Central nervous system involvement occurs in a variable proportion of cases (4 to 49%) and is due to intracranial hypertension secondary to dural sinus thrombosis, inflammatory parenquimal lesions or recurrent meningoencephalitis. We reviewed 12 patients, 7 men and 5 women, aged between 27 to 40 years at the time of diagnosis. Neurological manifestations were secondary to parenquimal lesions in 7 patients, meningoencephalitis in 3 patients (including one with extensive medullary lesion) and dural sinus thrombosis in 2. Magnetic Resonance (MR) findings in Neuro-Behçet are non-specific. Nevertheless, MR has a role in characterizing brain lesions topography, helping in the diagnosis and in the follow-up of these patients. PMID: 17583610 [PubMed - indexed for MEDLINE]Free Article
- Perceptions in Living Kidney Donation: What ProtagonistsThink and FeelPublication . Frade, I.C.; Lopes, A.; Teixeira, L.; Rodrigues, J.; Almeida, M.; Dias, L.; Henriques, A.C.Abstract Background Although donor perceptions of donation have been evaluated in several programs, evaluation of associated recipients has not been as frequent. Purpose Our aim was to evaluate and compare after transplantation, donor and recipient perceptions of donation. Methods After transplantation 35 recipients and 45 donors completed a sociodemographic and a donation perception questionnaire. We applied the Fisher test to descriptive (absolute and relative frequency) data. Results 57.8% of donors were female and 62.9% of recipients male. 53.3% of donors were siblings, 44.5% parents, and 2.2% a daughter. Most recipients (71.9%) thought that the donation was the donors' initiative and 21.9% that it was suggested by medical team. 96.4% responded that it was the donor's wish that determined their decision; 51.4% had serious or some doubts about accepting the option, but for 48.6% it was an easy decision. Among the donors, 88.9% decided by themselves and 8.9% were asked for donation. For 91.1%, their wish was the main reason of the decision, but 8.9% felt a moral obligation; 77.8% thought it was an easy decision, and 17.8% hesitated a little 84.4% were not worried about their future health. Conclusions Altruistic motivations were predominant in both groups. Most recipients thought that the motivation for donation was self-determined, a finding that agreed with donor perceptions. Perceptions about the quality of and changes in emotional relationship were the same in both groups. Donors and recipients referred to the donation process as positive, but there were some negative emotions and perceptions.
- Portuguese consensus document for the management of alpha-1-antitrypsin deficiencyPublication . Lopes, A.; Mineiro, M.; Costa, F.; Gomes, J.; Santos, C.; Antunes, C.; Maia, D.; Melo, R.; Canotilho, M.; Magalhães, E.; Vicente, I.; Valente, C.; Gonçalves, B.; Conde, B.; Guimarães, C.; Sousa, C.; Amado, J.; Brandão, M.; Sucena, M.; Oliveira, M.; Seixas, S.; Teixeira, V.; Telo, L.Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.