Browsing by Author "Moreira, P."
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- EPIDURAL BLOOD PATCH IN SPONTANEOUS INTRACRANIAL HYPOTENSIONPublication . Moreira, P.; Tarroso, M.J.; Santos, F.; Casal, M.Background: Spontaneous Intracranial Hypotension (SIH) is a rare condition caused by a spinal cerebrospinal fluid (CSF) leak. It is usually described as an orthostatic headache, frequently associated with neck pain, nausea, vomiting, diplopia, blurred vision and distorted hearing. Initial treatment consists of bed rest, fluid supplementation, caffeine and analgesics. If conservative treatment fails, an epidural blood patch (EBP) therapy should be considered. Methods: A healthy 31-year-old female patient presented with a spontaneous occipital headache during the expulsive period of a miscarriage. Six days later, she was referred to Neurology due to worsening symptoms (orthostatic headache, vertigo and diplopia). CAT scan, lumbar puncture and carotid ecodoppler were normal. Magnetic Resonance Imaging (MRI) revealed an epidural CSF collection suggesting a CSF fistula. After 21 days of conservative treatment and no clinical improvement, she was referred to Anaesthesiology to perform a lumbar EBP. Hospital discharged occurred five days later with no symptoms. The follow-up MRI was normal. Discussion: Treatment of SIH aims to maintain CSF volume. The effect of EBP is twofold: an early effect related to volume replacement and a latent effect that results from sealing the leak. Symptomatic relief is usually obtained in few days but EBP may be repeated if symptoms recur. Complications such as transient paraesthesia, radicular pain, repeated inadvertent dural puncture and epidural infection are possible but rare. Conclusions: The high success rate and the low incidence of complications have established the EBP as the best available treatment of SIH refractory to conservative measures.
- Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First ReportPublication . Tavares, I.; Lobato, L.; Matos, C.; Santos, J.; Moreira, P.; Saraiva, M.; Castro Henriques, A.Systemic hereditary amyloidoses are autosomal dominant diseases associated with mutations in genes encoding ten different proteins. The clinical phenotype has implications on therapeutic approach, but it is commonly variable and largely dependent on the type of mutation. Except for rare cases involving gelsolin or transthyretin, patients are heterozygous for the amyloidogenic variants. Here we describe the first patient identified worldwide as homozygous for a nephropathic amyloidosis, involving the fibrinogen variant associated with the fibrinogen alpha-chain E526V (p.Glu545Val) mutation. In 1989, a 44-year-old woman presented with hypertension, hepatosplenomegaly, nephrotic syndrome, and renal failure. She started hemodialysis in 1990 and 6 years later underwent isolated kidney transplantation from a deceased donor. Graft function and clinical status were unremarkable for 16 years, despite progressively increased left ventricular mass on echocardiography. In 2012, 4 months before death, she deteriorated rapidly with severe heart failure, precipitated by Clostridium difficile colitis and urosepsis. Affected family members developed nephropathy, on average, nearly three decades later, which may be explained by the gene dosage effects on the phenotype of E526V (p.Glu545Val) fibrinogen A alpha-chain amyloidosis.
- The association between 25(OH)D levels, frailty status and obesity indices in older adultsPublication . Sousa-Santos, A.; Afonso, C.; Santos, A.; Borges, N.; Moreira, P.; Padrão, P.; Fonseca, Isabel; Amaral, T.Background: Vitamin D deficiency is common in older adults and has been linked with frailty and obesity, but it remains to be studied whether frail obese older adults are at higher risk of vitamin D deficiency. Therefore, the aim of this study is to explore the association between frailty, obesity indices and serum 25(OH)D concentrations. Methods: 1447 individuals with 65 years or older, participating in a cross-sectional study (Nutrition UP 65) were included. Frailty, according to Fried et al., body mass index (BMI), waist circumference (WC), body roundness index (BRI) and body shape index (ABSI) were evaluated. A stepwise multinomial logistic regression was carried out to quantify the association between 25(OH)D quartiles and independent variables. Results: Median 25(OH)D levels were lower in individuals presenting both frailty and obesity (p<0.001). In the multivariate analysis, pre-frailty (OR: 2.65; 95% CI: 1.63-4.33) and frailty (OR: 3.77; 95% CI: 2.08-6.83) were associated with increased odds of lower 25(OH)D serum levels (first quartile). Regarding obesity indices, the highest categories of BMI (OR: 1.74; 95% CI: 1.06-2.86), WC (OR: 3.46; 95% CI: 1.95-6.15), BRI (OR: 4.35; 95% CI: 2.60-7.29) and ABSI (OR: 3.17 95% CI: 1.86-5.38) were directly associated with lower 25(OH)D serum levels (first quartile). Conclusions: A positive association between frailty or obesity and lower vitamin D levels was found. Moreover, besides BMI and WC, other indicators of body adiposity, such as BRI and ABSI, were associated with lower 25(OH)D serum concentrations.