4 documents found, page 1 of 1
Renal Sarcoidosis: a Rare Case
Menezes, M; Patarata, ESarcoidosis is a multisystemic granulomatous disease with rare renal involvement. We describe a case of a 45-year-old female patient admitted to the hospital with severe acute kidney injury and uveitis. After clinical investigation, sarcoidosis with renal, hepatic and ocular involvement was diagnosed. Renal biopsy revealed acute granulomatous interstitial nephritis and treatment with systemic corticosteroids wa...
Takotsubo Syndrome in a Premenopausal Patient
Menezes, M; Marto, D; Marcão, I; Salvado, CTakotsubo syndrome is a rare clinical condition, with a pathophysiology that is not fully understood. Characterised by an acute and usually reversible heart failure, the condition is often preceded by a stressful event. For the diagnosis of Takotsubo syndrome to be possible, the absence of coronary artery disease as a cause is required. We report a case of Takotsubo syndrome in a 47-year-old woman of fertile ag...
Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotype...
Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, MThe type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demo...
Epidemiologic study of bronchial asthma in schoolchildren from the Azores (Faial).
Prata, C; Marto, J; Mouzinho, I; Menezes, M; Susano, REpidemiologic data on prevalence of bronchial asthma among childhood in the Azores have been unknown so far. In October of 1993 a study was carried out to determine the prevalence of bronchial asthma in children aged 6-12 years on the island of Faial. Nine hundred and twenty seven schoolchildren, representing more than 95% of children within this age group, were studied. A questionnaire was distributed to be fi...