Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

OBJECTIVES: The objective of the study was to test the efficacy, safety and tolerability of triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia (FRDA) patients in a clinical pilot study. PATIENTS AND METHODS: Patients included in this study were 10 males and three females, 14-61 years of age (average 30.2 ± 12.1), diagnosed with FRDA with normal ventricular function. Patients were treated with triple therapy with deferiprone at 5-25 mg/kg/day, idebenone at 10-20 mg/kg/day and riboflavin at 10-15 mg/kg/day for 15-45 months. The efficacy of this triple therapy was assessed by change from baseline on the scale for the assessment and rating of ataxia (SARA) and by the change from baseline in echocardiogram parameters. RESULTS: Four patients discontinued due to adverse events (AEs) related with deferiprone. The annual worsening rate (AWR) was estimated in this series as 0.96 (CI 95%: 0.462-1.608) SARA score, whereas AWR for our FRDA cohort was estimated as 2.05 ± 1.23 SARA score. LVMI only decreased by 6.5 g/m(2) (6.2%) at the end of the first year of therapy. LVEF remained stable, except in case of three patients. CONCLUSION: Our results seem to indicate some uncertain benefit on the neurological and heart functions of this triple therapy in FRDA.

[Usefulness of Doppler echocardiography in the diagnosis of complications in the acute phase of myocardial infarct]. / Utilidad de la ecocardiografía Doppler en el diagnóstico de las complicaciones en la fase aguda del infarto de miocardio.

Doppler echocardiography, providing objective data on heart anatomy and cardiac function, is a diagnostic method of unquestionable value in the acute phase of myocardial infarction. In what concerns myocardial infarction complications; echocardiography permits: a) evaluation of ventricular function, by quantifying heart failure and establishing the diagnosis of ventricular aneurysm; b) it is the most reliable method in the diagnosis of thrombi, and c) it constitutes a fundamental diagnostic tool in mechanical complications: rupture of the heart structures and evaluation of valvular competence. a) Evaluation of ventricular function. The analysis of ventricular dimensions and segmentary wall motion abnormalities permits the quantification of the infarct size and its repercussion upon the cardiac function. Otherwise, left ventricular proto and end diastolic filling rates give an idea about ventricular diastolic function alterations. b) Ventricular thrombi. The incidence of ventricular thrombi in AMI is variable, depending on the site of infarction and the number of segments with wall motion abnormalities. By echocardiography it has been demonstrated that 40% of the anterior transmural myocardial infarctions and 10% of the inferior ones disclosed thrombi, although the incidence of systemic embolism is scarce and similar on both anterior and inferior infarctions: nearly 2% during the first month after infarction. The criteria that identify the embolic risk include: thrombus size over 2 x 2 x 2 cm, pediculated and mobile thrombi. On the other hand, right intraventricular thrombi incidence is rare nearly 5% of right ventricular infarctions and post-infarction pulmonary embolism is probably more related to peripheral venous thrombus than to an intraventricular one. c) Mechanical complications. Echocardiography enables the direct diagnosis of interventricular septum and papillary muscles rupture in about 80% of the cases and although ordinary does not provide direct data on free ventricular wall rupture, the detection of pericardial effusion with high density echoes, together with finding of free right ventricular and atrial wall collapse, gives 80% of sensibility and over 90% of specificity in the diagnosis of free ventricular wall rupture. Finally, Doppler echocardiography permits the diagnosis and quantification of mitral and tricuspid regurgitation secondary to a rupture of even a simple disfunction of the atrioventricular subvalvular apparatus.

[Pulsed Doppler in the diagnosis of obstruction of the superior vena cava. Apropos of a case]. / Doppler pulsado en el diagnóstico de obstrucción de vena cava superior. A propósito de un caso.

We report the case of a patient diagnosed as superior vena cava syndrome 8 years after surgical resection of a breast malignancy and treatment with radiotherapy. The study with pulsed Eco-Doppler detected the presence of obstruction to the systemic venous return, allowing us to establish the diagnosis. Confirmation was achieved by means of venography and venous pressure manometry. Usefulness of the Doppler technique in the assessment of systemic venous return is confirmed.

[Mechanical complications of temporary pacemakers. Criteria for the diagnosis of perforation and dislodgement (author's transl)]. / Complicaciones mecánicas de los marcapasos temporales. Criterios diagnósticos de perforación y desenclavamiento.

The methods used in the early diagnosis of catheter malposition are compared in 31 patients with temporary endovenous pacemaker. In all cases the heart and the pericardial space were observed either at surgery or at post-mortem examination. The patients were divided into three groups: Group A: eight patients with proof of perforation of the free wall of the right ventricule. Group B: eight patients with dislodgement of the catheter and dysfunction of demand and stimulation without signs of perforation. Group C: fifteen patients without neither dysfunction or perforation. Clinical, radiological and electrocardiographic data were evaluated in each group. With the exception of cardiac tamponade, there were no clinical symptoms distinguishing perforation from dislodgement. Radiologically, only important changes in catheter position had diagnostic value. ECG changes were not diagnostic. Endocavitary ECG permits to locate the catheter with respect to the right ventricular wall. A good contact with the endocardium determines the appearance of a pathologic wave in the distal electrogram which diminishes or disappears after perforation or dislodgement. In the group A patients the QRS was predominantly positive, a feature that was not observed in the other two groups. When the catheter backed up to the atrium, high voltage atrial potentials were registered. Although the analysis of endocavitary recordings constitutes the most useful method to detect catheter malposition, only the total clinical, radiological, and electrocardiographic data provide a firm diagnosis.