Browsing by Author "Costa, J."
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- Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathyPublication . Coelho, T.; Inês, M.; Conceição, I.; Soares, M.; de Carvalho, M.; Costa, J.Objective: To assess the natural history and treatment effect on survival among patients with transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) stage 1 Val30Met. Methods: Multi-institutional, hospital-based study of patients with TTR-FAP Val30Met prospectively followed up until December 2016, grouped into untreated (n = 1,771), liver transplant (LTx)-treated (n = 957), or tafamidis-treated (n = 432) cohorts. Standardized mortality ratios, Kaplan-Meier, and Cox methods were used to estimate excess mortality, survival, and adjusted hazard ratios (HRs) for all-cause mortality. Results: Disease-modifying treatments decreased TTR-FAP excess mortality from 10 to 4 (standardized mortality ratio 3.92, 95% confidence interval [CI] 2.64-5.59). Median overall survival of untreated and LTx-treated cohorts was 11.61 (95% CI 11.14-11.87) and 24.73 years (95% CI 22.90-27.09), respectively, and was not reached in the tafamidis-treated cohort (maximum follow-up, 10 years). Both disease-modifying treatments improved survival. Among early-onset patients (younger than 50 years of age), tafamidis reduced the mortality risk compared with untreated patients by 91% (HR 0.09, 95% CI 0.03-0.25, p < 0.001) and with LTx-treated patients by 63% (HR 0.37, 95% CI 0.14-1.00, p = 0.050). Previous tafamidis treatment did not affect mortality risk after LTx (HR 0.83, 95% CI 0.25-2.78, p = 0.763). Among late-onset patients (50 years and older), tafamidis reduced mortality risk by 82% compared with untreated patients (HR 0.18, 95% CI 0.06-0.49, p = 0.001). Conclusion: LTx and tafamidis convey substantial survival benefits, but TTR-FAP mortality remains higher than in the general population. These results strongly reinforce the importance of timely diagnosis and earlier treatment, boosting the pursuit for an increased life expectancy. Classification of evidence: This study provides Class III evidence that for patients with stage 1 Val30Met TTR-FAP, LTx and tafamidis increase survival.
- Pseudo-quisto abdominalPublication . Sousa, M.; Costa, J.; Alves, A.; Salgado, M.Apresentamos o caso clínico de uma criança de 5 anos de idade, sexo masculino, com hidrocefalia secundária a quisto porencefálico congénito, com sistema de derivação ventriculo-peritoneal (DVP) do LCR desde os 12 meses de idade, que se complicou, 4 anos depois, de pseudo-quisto abdominal (PQA), em cuja cultura do conteúdo se desenvolveu uma Brucella spp. A revisão da literatura sobre peritonite/ ascite por Brucella, mostrou tratarem- se de situações muito raras, ocorrendo mais em adultos com doença grave subjacente ou em indivíduos com catéter intra-abdominal com sistemas de DVP. Na literatura internacional estão publicados cerca de 20 casos clínicos de ascite / peritonite por Brucella. Contudo não encontrámos nenhuma outra descrição de infecção dum PQA por Brucella. ABSTRACT We present a case of a five year-old boy with hydrocephaly secondary to a congenital porencephalic cyst, with ventricular-peritoneal shunt of cerebral-spinal fluid, since the age of 12 months. He developed, 4 years later, an abdominal pseudo-cyst. The culture of the pseudo-cyst’s content was positive for Brucella spp. The review of literature shows that peritonitis / ascitis caused by Brucella, is rare, and takes place in serious ill adults or in individuals with intra-abdominal catheter of ventricular-peritoneal shunt. The authors found 20 cases of peritonitis / ascitis caused by Brucella, in the international literature, however, we have not found any description of an abdominal pseudo-cyst infection by this bacteria.
- Recomendações para o Diagnóstico da Forma Tardia da Doença de PompePublication . Brito-Avô, L.; Alves, J.; Costa, J.; Valverde, A.; Santos, L.; Araújo, F.; Marinho, A.; Oliveira, A.; Gomes, D.INTRODUCTION: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. OBJECTIVE: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. MATERIAL AND METHODS: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. RECOMMENDATIONS: Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.
- Recurrent focal myositis: a rare inflammatory myopathyPublication . Teixeira, F.; Peixoto, D.; Costa, J.; Bogas, M.; Taipas, R.; Melo-Pires, M.; Afonso, C.; Araújo, D.Focal myositis is an acute and localized muscle inflammation of unknown aetiology. The clinical diagnosis is often difficult to obtain, since it can be confused with infections, vascular thrombosis or muscle tumours such as sarcomas. This leads to a significant delay in the diagnosis, resulting in the administration of inappropriate and potentially harmful treatments. We report here a case of recurrent focal myositis in a woman where the diagnosis was only obtained after 6 years, despite multiple hospital admissions. This case reinforces the importance of clinical knowledge and experience to tackle challenging medical scenarios
- Sintomatologia psiquiátrica dos familiares cuidadores de doentes com internamento em cuidados intensivosPublication . Costa, J.; Sequeira, C.