Browsing by Author "Oliveira, J"
Now showing 1 - 10 of 16
Results Per Page
Sort Options
- ABO-Incompatible Liver Transplantation in Acute Liver Failure: A Single Portuguese Center StudyPublication . Mendes, M; Ferreira, AC; Ferreira, A; Remédio, F; Aires, I; Cordeiro, A; Mascarenhas, A; Martins, A; Pereira, P; Glória, H; Perdigoto, R; Veloso, J; Ferreira, P; Oliveira, J; Silva, M; Barroso, E; Nolasco, FINTRODUCTION: ABO-incompatible liver transplantation (ABOi LT) is considered to be a rescue option in emergency transplantation. Herein, we have reported our experience with ABOi LT including long-term survival and major complications in these situations. PATIENT AND METHODS: ABOi LT was performed in cases of severe hepatic failure with imminent death. The standard immunosuppression consisted of basiliximab, corticosteroids, tacrolimus, and mycophenolate mofetil. Pretransplantation patients with anti-ABO titers above 16 underwent plasmapheresis. If the titer was above 128, intravenous immunoglobulin (IVIG) was added at the end of plasmapheresis. The therapeutic approach was based on the clinical situation, hepatic function, and titer evolution. A rapid increase in titer required five consecutive plasmapheresis sessions followed by administration of IVIG, and at the end of the fifth session, rituximab. RESULTS: From January 2009 to July 2012, 10 patients, including 4 men and 6 women of mean age 47.8 years (range, 29 to 64 years), underwent ABOi LT. At a mean follow-up of 19.6 months (range, 2 days to 39 months), 5 patients are alive including 4 with their original grafts. One patient was retransplanted at 9 months. Major complications were infections, which were responsible for 3 deaths due to multiorgan septic failure (2 during the first month); rejection episodes (4 biopsy-proven of humoral rejections in 3 patients and 1 cellular rejection) and biliary. CONCLUSION: The use of ABOi LT as a life-saving procedure is justifiable in emergencies when no other donor is available. With careful recipient selection close monitoring of hemagglutinins and specific immunosuppression we have obtained acceptable outcomes.
- Atypical Phenotype in Two Patients with LAMA2 MutationsPublication . Marques, J; Duarte, S; Costa, S; Jacinto, S; Oliveira, J; Oliveira, M; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Calado, E; Evangelista, TCongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).
- Carcinomas Espinocelulares Cutâneos em Doente com Epidermólise Bolhosa Distrófica RecessivaPublication . Medeiros, S; Amaro, C; Oliveira, J; Catorze, G; Miguel, J; Coutinho, J; Vieira, R; Pacheco, A; Afonso, A; Cardoso, JAs epidermólises bolhosas (EB) hereditárias são um grupo heterogéneo de doenças bolhosas geneticamente determinadas. Caracterizam-se clinicamente por fragilidade mucocutânea que se traduz pela formação de 1,2 bolhas após traumatismos mínimos. Nas formas distróficas, principalmente na forma recessiva, as lesões cutâneas evoluem de forma crónica levando à formação de múltiplas cicatrizes atróficas e estão associadas a uma maior 2 frequência de carcinomas espinocelulares (CEC), em particular nos casos de longa evolução. Os autores descrevem o caso de um doente, com 42 anos de idade, com epidermólise bolhosa distrófica recessiva - variante Hallopeau-Siemens (EBDR-HS), que desenvolveu dois carcinomas espinocelulares da pele, tendo um deles metastizado para os gânglios loco-regionais, em breve período de tempo.
- Chemoembolization of Hepatocellular Carcinoma with Drug-Eluting Polyethylene Glycol Embolic Agents: Single-Center Retrospective Analysis in 302 PatientsPublication . Veloso Gomes, F; Oliveira, J; Tomé Correia, M; Costa, NV; Abrantes, J; Torres, D; Pereira, P; Ferreira, AI; Luz, JH; Spaepen, E; Bilhim, T; Coimbra, EPurpose: To evaluate the efficacy and safety of transarterial chemoembolization with polyethylene glycol (PEG) drug-eluting embolic agents in the treatment of hepatocellular carcinoma (HCC). Materials and methods: A single-center retrospective study of 302 patients (258 men; 85.4%) with HCC treated during a 20-month period was conducted. The mean patient age was 66 years ± 10; 142 (47%) had Barcelona Clinic Liver Cancer stage A disease and 134 had (44.4%) stage B disease; 174 (57.6%) had a single HCC tumor, 65 (21.5%) had 2, and 62 (20.9%) had 3 or more. Mean index tumor size was 36.6 mm ± 24.8. One-month follow-up computed tomography (CT) response per modified Response Evaluation Criteria In Solid Tumors and clinical and biochemical safety were analyzed. Progression-free and overall survival were calculated by Kaplan-Meier method. Results: Median follow-up time was 11.9 months (95% confidence interval, 11.0-13.0 mo). One-month follow-up CT revealed complete response in 179 patients (63.2%), partial response in 63 (22.3%), stable disease in 16 (5.7%), and progressive disease in 25 (8.8%). The most frequent complications were postembolization syndrome in 18 patients (6%), liver abscess in 5 (1.7%), and puncture-site hematoma in 3 (1%). Biochemical toxicities occurred in 57 patients (11.6%). Survival analysis at 12 months showed a progression-free survival rate of 65.9% and overall survival rate of 93.5%. Patients who received transplants showed a 57.7% rate of complete pathologic response. Conclusions: Chemoembolization with PEG embolic agents for HCC is safe and effective, achieving an objective response rate of 85.5%.
- Dengue em Portugal – Experiência da Região Autónoma da MadeiraPublication . Castro, L; Marçal, F; Gonçalves, J; Oliveira, J; Miranda, V; Freitas, C; Barros, A; Freitas, PIntrodução: O dengue é uma doença viral, autolimitada, transmitida pelo mosquito do género Aedes. A introdução do vetor de transmissão na ilha da Madeira levantou a ameaça de uma epidemia. Apesar da implementação de medidas de controlo do vetor, oito anos após a sua deteção verificou-se o primeiro surto de dengue na região. Este estudo teve como objetivo a caracterização dos casos de dengue em idade pediátrica no primeiro surto desta doença na Madeira. Métodos: Estudo retrospetivo, observacional e descritivo. Foram incluídas crianças e adolescentes dos zero aos catorze anos com diagnóstico de dengue confirmado laboratorialmente. Foi feita a caracterização das variáveis demográficas, clínicas e analíticas, com posterior análise e tratamento estatístico. Resultados: Foram confirmados laboratorialmente 182 casos, verificando-se predomínio do sexo masculino e idade média de 9,6 anos. A taxa de incidência foi de 413,5/100000 habitantes, com pico de incidência em novembro de 2012. Os sintomas de apresentação mais frequentes foram febre (98,3%), cefaleias (75,2%), mialgias (66,5%) e exantema (51,6%), surgindo manifestações hemorrágicas em 9,9% dos casos. A taxa de internamento foi de 15,9%, com duração média de 3,8 dias, não sendo registados óbitos. Foi identificado somente o serotipo DEN-1. Conclusões: A elevada densidade do vetor associada à presença de hospedeiros suscetíveis poderá ter originado a explosão do surto, após a introdução do vírus na região. Sendo a imunidade serotipo-específica, a presença de um novo serotipo poderia ter consequências devastadoras, pelo que dada a possibilidade de um novo surto, deverão ser mantidas as medidas de controlo entomológico e de proteção individual.
- Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle SymptomsPublication . Duarte, ST; Oliveira, J; Santos, R; Pereira, P; Barroso, C; Conceição, I; Evangelista, TINTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. RESULTS: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. CONCLUSIONS: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.
- Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 MutationPublication . Jorge, A; Melancia, D; Figueiredo, C; Galego, O; Oliveira, J; Martins, AI; Lemos, J
- Fabry Disease Caused by the GLA p.Phe113Leu (p.F113L) Variant: Natural History in MalesPublication . Oliveira, J; Nowak, A; Barbey, F; Torres, M; Nunes, J; Teixeira-e-Costa, F; Carvalho, F; Sampaio, S; Tavares, I; Pereira, O; Soares, A; Carmona, C; Cardoso, MT; Jurca-Simina, I; Spada, M; Ferreira, S; Germain, DBackground, aims and methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. It has since emerged as the most commonly reported GLA variant in Portuguese subjects diagnosed with FD but is also prevalent in the Italian population, where two boys carrying the GLA Leu113 allele were identified in a large-scale newborn screening program, the variant allele segregating in both cases with the same surrounding haplotype. To further delineate the genotype-phenotype correlations of this GLA variant, we have reviewed the natural history and clinical phenotypes of 11 symptomatic Portuguese males, from 10 unrelated families originating from several different areas in mainland Portugal and Madeira Island, who were diagnosed with FD associated with the GLA Leu113 allele in a diversity of clinical and screening settings. Nine of the patients were the probands of their respective families. To test whether the GLA Leu113 allele inherited by the 10 Portuguese and the two Italian families resulted from independent mutational events, we have additionally performed a haplotype analysis with 5 highly polymorphic, closely linked microsatellite markers surrounding the GLA gene. Results and conclusions: Hemizygosity for the GLA Leu113 variant allele is associated with a late-onset form of FD, invariably presenting with severe cardiac involvement. Clinically relevant cerebrovascular and kidney involvement may also occur in some patients but the pathogenic relationship between the incomplete α-galactosidase deficiency and the risks of stroke and of chronic kidney disease is not straightforward. The observation that the Leu113 allele segregated within the same GLA microsatellite haplotype in both the Portuguese and Italian families suggests its inheritance from a common ancestor.
- Fatores de Risco de Burnout nos Profissionais de Saúde em Contexto HospitalarPublication . Oliveira, J; Ferreira, P; Gonçalves, VIntrodução – O burnout é um estado de esgotamento físico, resultante de stress crónico no trabalho não gerido com êxito (OMS, 2019). Existem inúmeras definições de burnout, sendo a mais atual e comummente utilizada pelos grandes investigadores do fenómeno como Maslach e Jackson, a que caracteriza a síndrome como sendo uma crise de caráter psicológico com elevada exaustão emocional, despersonalização e baixa realização profissional, provocada pela fadiga, stress, exaustão e falta de realização no mundo do trabalho (Schaufeli, 2017). Objetivo – Identificar os fatores de risco associados ao burnout nos profissionais de saúde em contexto hospitalar. Metodologia – Revisão sistemática da literatura. Bases de dados: CINAHL Complete, MEDLINE Complete e MEDIC LATINA, na EBSCOhost (2017-2021). Descritores: Health Personnel; Burnout, Professional; Burnout, Psychological; Stress, Psychological; Occupational Stress; Risk Factors; Risk; Hospitals; Hospital Units; Hospital Departments; Health facility departments. N=542 artigos, selecionados 10. Resultados – A síndrome de burnout constitui um processo multicausal, com fatores individuais, sociais e organizacionais. Discussão/Conclusão – Os ambientes em que os profissionais de saúde se inserem, assim como as suas características sociodemográficas e pessoais, constituem-se como fatores que podem levar a doença mental. Urge implementar estratégias que melhorem o seu bem-estar físico e psicológico.
- Fulminant Hepatitis E in a Pregnant WomanPublication . Velosa, M; Figueiredo, A; Glória, H; Mateus, E; Neves, Z; Araújo, A; Carvalho, A; Oliveira, J; Barroso, EHepatitis E is an inflammatory liver disease caused by hepatitis E virus (HEV) infection, which is endemic in China, India, Nepal, and in several Asian and African countries, where the prevalence can be as high as 50%. In non-endemic countries, an increasing number of non-travel associated HEV has been reported in recent years, particularly in Europe. The authors describe the clinical case of a puerperal 24-year-old woman from Pakistan admitted to our Tertiary Care Medical Center with acute hepatic failure developed during the third trimester of her pregnancy. She was icteric with grade III encephalopathy and hypothermia. Laboratory values showed significant AST, ALT and LDH elevations of twelve times the upper normal limit, and total bilirubin was significantly elevated (41.20 mg/dL). Prothrombin time was prolonged (4 s) and factor V activity was diminished (15.1%). Extracorporeal albumin dialysis was initiated, but clinical deterioration occurred within 48 h, so she underwent OLT at day 4 post-admission. Severe forms of HEV are known to be more pronounced in pregnant women. Even though most of the described cases of acute hepatic failure associated to HEV during pregnancy had a favorable clinical course, some cases of fulminant liver failure and death are described. It is unknown whether liver transplant outcomes in this setting are different from other causes of acute liver failure. To our knowledge, this is the first case report in Portugal from a pregnant woman who developed hepatic failure due to fulminant hepatitis E that underwent successful liver transplantation.