Risk factors associated with recurrent venous thromboembolism after a first cerebral venous thrombosis event: A cohort study.

BACKGROUND: Cerebral venous thrombosis (CVT), although rare, is potentially fatal. Few studies have investigated risk factors associated with recurrent venous thromboembolism (VTE) after a first CVT event of which most are from Caucasian populations. The aim of this study was to evaluate risk factors associated with recurrent VTE after a first CVT event in a South American-population. PATIENTS/METHODS: In this cohort, multicenter study, patients aged >18 years and objectively-diagnosed with CVT were included, with follow-up starting after discontinuing anticoagulant therapy. The primary outcome was symptomatic VTE recurrence at any venous site. RESULTS: We included 203 patients with a median age of 30.8 (interquartile range [IQR], 24.7-40.9) years and a follow-up of 3.0 (IQR, 1.2-5.6) years. Most patients (86.2%) were women, and among those of reproductive age (n = 162), 65.4% developed CVT during oral contraceptive use, and 9.2% during pregnancy/puerperium. Thirteen patients (6.9%) developed VTE recurrence after a first CVT, yielding an overall rate of 1.6/100 patient-years (95% confidence interval [CI], 0.8-2.8). Recurrence rate was higher in males (4.6/100 patient-years; 95% CI, 1.2-11.7) than in females (1.2/100 patient-years; 95% CI, 0.6-2.4), and in patients with factor V Leiden mutation (9.2/100 patient-years; 95% CI, 1.1-33.1) than in those without it (1.2/100 patient-years; 95% CI, 0.5-2.4). CONCLUSIONS: VTE recurrence after a first CVT was low. In spite of the limitation of small sample size, male sex and factor V Leiden mutation were the only factors associated with a significant higher risk of recurrent VTE after a first CVT in a multivariate analysis.

[Spheroid body myopathy: case report]. / Miopatia por corpos esferóides: relato de caso.

Spheroid body myopathy is a rare illness classified in the group of the congenital myopathies as a desmin-related neuromuscular disorder, presenting dominant autosomical origin with the beginning of the symptoms in the adult phase. We report on a seven years old girl with facial paresia, generalized muscular hypotrophy and hypotony, generalized deep areflexia, proximal upper and lower limbs muscular strengh and distal upper limbs grade 3 and distal lower limbs grade 1. Needle electromyography evidenced increased conscription and potentials of motor unit of short duration and low amplitude, characterizing a myopathic standard. The muscle biopsy disclosed mixed standard to myopathy, denervation and inclusion bodies that are consistent to spheroid body myopathy. In this case, the patient presented, in advance, early beginning of the symptoms and there are no similar cases in the family.

Miopatia por corpos esferóides: relato de caso / Spheroid body myopathy: case report

A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta. Relatamos o caso de menina de sete anos, com diparesia facial, hipotrofia e hipotonia muscular generalizadas, arreflexia profunda generalizada, força muscular proximal nos membros superiores e inferiores e distal dos membros superiores grau 3 e distal nos membros inferiores grau 1. A eletromiografia de agulha evidenciou recrutamento aumentado e potenciais de unidade motora de curta duração e baixa amplitude, caracterizando um padrão miopático. A biópsia muscular revelou padrão misto para miopatia e desinervação e presença de corpos esferóides intracitoplasmáticos compatíveis com a miopatia por corpos esferóides. No presente caso, a paciente apresentou precocemente o início dos sintomas e não há relatos de casos semelhantes na família.