Browsing by Author "Carvalho, M"
Now showing 1 - 5 of 5
Results Per Page
Sort Options
- Constrictive pericarditis: Insights from cardiac computed tomographyPublication . Ribeiro, S; Bettencourt, N; Van Zeller, P; Leite, D; Carvalho, M; Ribeiro, VG
- O impacto do controlo microbiológico na preparação de citotóxicosPublication . Moreira, S; Jorge, AM; Glória, F; Ferreira, J; Branco, J; Carvalho, M; Cândido, S; Ferrer, C
- Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patientsPublication . Baptista, MV; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, VT; Carmona, C; Silva, FA; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, AA; Leitão, A; Gabriel, JP; Calado, S; Oliveira, JP; Ferro, JMBACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admitted into any of 12 neurology hospital departments in Portugal, were prospectively enrolled (n=625). Ischemic stroke was classified according to Trial of Org 10172 in Acute Stroke Treatment criteria. Alpha-galactosidase activity was further assayed in all patients with GLA mutations. RESULTS: Four hundred ninety-three patients (mean age, 45.4 years; 61% male) underwent genetic analyses: 364 with ischemic stroke, 89 with intracerebral hemorrhage, 26 with subarachnoid hemorrhage, and 14 with cerebral venous thrombosis. Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). Leukocyte alpha-galactosidase activity was subnormal in the hemizygous males and subnormal or low-normal in the heterozygous females. Estimated prevalence of missense GLA mutations was 2.4% (95% CI, 1.3% to 4.1%). CONCLUSIONS: Despite a low diagnostic yield, screening for GLA mutations should probably be considered in different types of stroke. Restricting investigation to patients with cryptogenic stroke may underestimate the true prevalence of Fabry disease in young patients with stroke.
- Poderá a efectividade do tratamento antiretroviral estar relacionada com a simplificação da terapêutica?Publication . Ferreira, J; Moreira, S; Jorge, A; Cândido, S; Carvalho, M; Branco, J; Glória, F; Oliveira, C; Ferrer, C
- Relationship between body mass index and mean arterial pressure in normotensive and chronic hypertensive pregnant women: a prospective, longitudinal study.Publication . Guedes-Martins, L; Carvalho, M; Silva, C; Cunha, A; Saraiva, J; Macedo, F; Almeida, H; Gaio, ARBACKGROUND: Being overweight is associated with both higher systolic blood pressure (SBP) and diastolic blood pressure (DBP) during pregnancy and increased risk of gestational hypertensive disorders. The objective of this study was to determine and quantify the effect of body mass index (BMI) on mean arterial pressure (MAP) at several time points throughout pregnancy in normotensive (NT) and chronic hypertensive pregnant (HT) women. METHODS: A prospective longitudinal study was carried out in 461 singleton pregnancies (429 low-risk and 32 with chronic arterial hypertension), with measurements taken at the 1(st), 2(nd), and 3(rd) trimesters and at delivery. Linear mixed-effects regression models were used to evaluate the time-progression of BMI, SBP, DBP and MAP during pregnancy (NT vs. HT). The longitudinal effect of BMI on MAP, adjusted for the hypertensive status, was investigated by the same methodology. RESULTS: BMI consistently increased with time in both NT and HT women. In contrast, MAP decreased during the first half of pregnancy, after which it increased until the moment of delivery in both groups. A 5-unit increase in BMI was predicted to produce an increase of approximately 1 mmHg in population MAP values. This effect is independent from the time period and from hypertensive status. CONCLUSIONS: In both NT and HT pregnant women, MAP is strongly (and significantly) influenced by increases in BMI.