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1.
J Neurol Sci ; 429: 118068, 2021 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-34530288

RESUMO

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a multisystemic disorder inherited as an autosomal dominant trait. Transitory events in ATTR-FAP patients are a feature of this disorder and remain poorly depicted in the literature. We aimed to describe a case series of ATTR-FAP patients who presented to our department with transitory events and document the clinical, neuroimaging and neurophysiological characteristics of the events. We collected data from eight patients carrying the Val30Met ATTR-FAP variant. We registered a total of 23 events. Of the eight patients, seven had been submitted to hepatic transplant. The events were either TIA-like or seizures, often followed by prolonged language, motor or sensory impairment. In 9 (39%) of the events, the patients presented with fever, but an infection was only found in 5 (21%). Cerebrospinal fluid analysis was performed in 5 patients. EEG was abnormal in at least 1 event in 7 of the 8 patients. Brain MRI was performed in 3 patients during the acute stage and showed no acute lesions. Although the etiology of these events remains unclear, brain MRI performed in the acute phase of acute TIA-like events and the EEG abnormalities, argues in favor of regional brain dysfunction due to amyloid deposition. Focal neurological episodes should be considered in long-term duration Val30Met ATTR-FAP patients, who present with acute neurological deficits or seizures.


Assuntos
Neuropatias Amiloides Familiares , Pré-Albumina , Amiloide/genética , Neuropatias Amiloides Familiares/diagnóstico por imagem , Neuropatias Amiloides Familiares/genética , Proteínas Amiloidogênicas , Humanos , Fenótipo , Pré-Albumina/genética
2.
Acta Reumatol Port ; 41(4): 359-366, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27165511

RESUMO

Osteoarthritis is one of the most disabling diseases, the main symptom being pain, which is associated with a low level of physical activity. The incidence and progression of knee osteoarthritis are directly related with risk factors such as obesity, age and mechanical factors. OBJECTIVE: The aim of this study was to identify which variables (physical activity, anthropometry and body composition of the lower limb) best predict pain intensity in obese individuals with knee osteoarthritis. METHODS: The sample consisted of 44 individuals of both genders (mean age 56.6 ± 6.6 yrs). Anthropometric measures of body mass, stature, mid-thigh, patellar and calf circumferences, and foot breadth were obtained. The body composition of the most painful lower limb was obtained by dual-energy X-ray absorptiometry in different regions: mid-thigh; patella; calf and foot. For each of these regions, fat mass percentage, the amount of fat and fat-free mass, bone mass and bone mineral density were evaluated. Physical activity was assessed by the International Physical Activity Questionnaire (short version) and pain intensity with the numeric rating scale. Data analysis was done using the multifactorial logistic regression (backward conditional method). RESULTS: The multifactorial analysis showed that gender (Odds Ratio of 7.448 for a 95% Confidence Interval of [1.032 - 53.747]) and foot breadth (Odds Ratio of 3.730 for a 95% Confidence Interval of [1.006 - 13.827]) are important factors to explain the risk of pain. CONCLUSIONS: These results seem to indicate that the assessment of foot morphology must be considered in knee osteoarthritis studies, since foot breadth is a predictor of knee pain. Further research is required to investigate the influence of foot morphology as well as of the use of insoles, splints or adapting shoes, on obese individuals with knee osteoarthritis.


Assuntos
Artralgia/etiologia , Osteoartrite do Joelho/complicações , Sobrepeso/complicações , Feminino , Humanos , Joelho , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Medição da Dor , Índice de Gravidade de Doença
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