Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Objective: Cerebral small vessel disease (cSVD) is a heterogeneous group of disorders. Screening of known cSVD genes identifies the causative mutation in <15% of familial cSVD cases. We sought to identify novel causes of cSVD.

The plasma homocysteine concentrations and prior myocardial infarction.

Unlabelled: Elevated plasma homocysteine levels are associated with increased risk of vascular disease and with a relationship between homocysteine values and disease severity. Several studies have shown that the high plasma level of homocysteine is an important predictor for risk of cardiovascular events. We analysed the relationship between homocysteine concentrations and other risk factors into CAD progression in patients of prior myocardial infarction.

Nephrotic syndrome associated with immune thrombocytopenia revealing Kimura's disease in a non-Asian male.

We report the case of a young Caucasian man presenting with diffuse oedema and nephrotic syndrome. Clinical examination revealed multiple lymphadenopathies. Histological examination was consistent with the diagnosis of Kimura's disease.

[Axillary lymphadenitis due to Corynebacterium pseudotuberculosis in a 63-year-old patient].

A 63-year-old woman living in a rural area presented in 2004 with a granulomatous necrotizing axillary lymphadenitis caused by Corynebacterium pseudotuberculosis, a Gram positive bacillus belonging to the group of Corynebacterium diphtheriae, which is found primarily in animal infections. In the human being, around 30 cases of infection due to C. pseudotuberculosis have been described, mainly among people working in contact with infected animals.

Risk factors for heart failure in patients with one prior myocardial infarction episode.

Background And Aim: Myocardial infarction is an important risk factor for HF, increasing risk 2- to 3-fold. Other identified classical risk factors for HF include left ventricular hypertrophy, valvular heart disease, hypertension, diabetes mellitus, cigarette smoking, obesity, and dyslipidaemia. New mechanisms, such as insulin resistance, inflammation, and oxidative stress, have been investigated, but the importance of many of these mechanisms is largely unexplored in patients of HF.

A new prediction score for myocardial infarction: MINF SCORE.

Unlabelled: The present report aims to generate a simple and efficient non-invasive prediction system of myocardial infarction as well as evaluating of the new generated score.

Methods: 208 patients (both men and women) aged 37-75 admitted at Centre Hospitalier Coulommiers, France, were included in the study. Patients were divided into two groups, according to presence (104 patients, 63.

Lipoprotein (a) and lipid and non-lipid risk factors in coronaries risk assessment.

Purpose: Several studies showed that elevated plasma levels of lipoprotein(a) [Lp(a)] represent a predictor for cardiovascular risk. Based on already existing literature data, we aim to study the relationship between Lp(a), lipids and other cardiovascular risk factors in individuals with or without coronary heart disease.

Methods: We performed a cross-sectional transversal study on 208 patients (100 men and 108 women) aged between 37-75, with or without old myocardial infarction.

[Serogroup C meningococcemia presenting as pericarditis in a 55-year-old woman without medical history].

In case of meningococcemia, isolated pericarditis is a rare event with a high mortality rate. We report the clinical and paraclinical signs that lead us to the diagnosis in a 55-year-old woman with favourable evolution. Previously described predisposing factors were no found.

Mixed myelodysplastic syndrome and myeloproliferative disorder with bone marrow and pulmonary fibrosis: the role of megakaryocytes.

The case of an 80-year-old woman displaying myelodysplastic syndrome evolving into a myeloproliferative disorder with myelofibrosis and pulmonary fibrosis, is reported. This case is characterized by an initial presentation of a myelodysplastic syndrome with normal karyotype and moderate fibrosis, its evolution towards a myeloproliferative disorder with myelofibrosis and the worsening of pulmonary fibrosis in parallel to the acceleration of the myeloproliferative disorder and myelofibrosis. These features and the high concentration of plasma platelet factor-4 suggest a role of megakaryocyte/platelet degranulation in the development of fibrosis.

[Cerebral-vein thrombosis: retrospective study of twenty seven cases].

Purpose: Among the locations of venous thrombosis, even if rare, cerebral-vein thrombosis is a severe event with a high mortality rate. No aetiology is found in 20 to 30% of the cases. In recent years, inherited coagulation disorders have been described, as risk factors for venous thrombosis.

Embolized ischemic lesions of toes in an afibrinogenemic patient: possible relevance to in vivo circulating thrombin.

Fibrinogen plays a complex role in hemostasis, thrombosis, and vascular disease. Hyperfibrinogenemia is an independent vascular risk factor and dysfibrinogenemia can provoke thrombosis. Afibrinogenemia is usually responsible for hemorrhagic diathesis, and unexpected ischemic lesions are intriguing.

[Behcet's disease manifested as a intracranial aneurysm].

Introduction: Mostly venous (95% of all vascular complications), and less frequently arterial (2 to 7% of all cases), vascular complications are commonplace in Behçet's disease (23 to 64% of the patients, depending on the series). Arterial complications are stenosis, occlusions and especially severe due to their unpredictable rupture risk, aneurysms. Intracranial aneurysms associated with Behçet's disease are exceptional.