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8.
Cerebellum ; 12(5): 713-20, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23625326

ABSTRACT

Minimal objective evidence exists regarding management of Friedreich's ataxia (FRDA). Antioxidant and recombinant human erythropoietin therapies have been considered potential treatments to slow progression of FRDA in a small number of studies. The primary objective of the current study was to test the efficacy, safety, and tolerability of triple therapy-darbepoetin alfa, idebenone, and riboflavin-in FRDA in a clinical pilot study. Patients included in this study were nine females, 16 to 45 years of age (average 28 ± 8), diagnosed with FRDA with confirmed GAA repeat expansion mutations in the FXN gene and a GAA repeat ≥400 on the shorter allele. Patients had a baseline score between 8 and 28.5 (average 20.7 ± 8.3) on the scale for the assessment and rating of ataxia and 94.3 ± 27.2 g/m(2) in left ventricular mass index (LVMI). Patients had been treated with triple therapy with 150 µg darbepoetin alfa every 2 or 3 weeks, 10-20 mg/kg/day idebenone, and 10-15 mg/kg/day riboflavin for 32 ± 19.4 months (range of 8-56 months). Triple therapy was tolerated. Although not statistically significant, improvement of ataxia was observed during the first six 4-month periods of the study. Furthermore, a small decrease in disease progression during the first 2 years of treatment was observed. Long-term statistically nonsignificant improvement of LVMI and stability of the echocardiographic parameters could be considered. Triple therapy may slow disease progression of FRDA.


Subject(s)
Antioxidants/therapeutic use , Erythropoietin/analogs & derivatives , Friedreich Ataxia/drug therapy , Hematinics/therapeutic use , Riboflavin/therapeutic use , Ubiquinone/analogs & derivatives , Adolescent , Adult , Antioxidants/administration & dosage , Darbepoetin alfa , Drug Therapy, Combination/methods , Erythropoietin/administration & dosage , Erythropoietin/therapeutic use , Female , Friedreich Ataxia/diagnosis , Hematinics/administration & dosage , Humans , Male , Middle Aged , Pilot Projects , Riboflavin/administration & dosage , Ubiquinone/administration & dosage , Ubiquinone/therapeutic use , Young Adult
12.
Eur J Echocardiogr ; 10(1): 148-50, 2009 Jan.
Article in English | MEDLINE | ID: mdl-18728098

ABSTRACT

Patent foramen ovale (PFO) is a relatively common congenital condition which has been implicated in cryptogenic stroke as a result of paradoxical thromboembolism by right-to-left shunting. Many studies have demonstrated that transcatheter PFO closure significantly reduced the incidence of recurrent strokes in a small group of high-risk patients with PFO and atrial septal aneurysm compared with antithrombotic drugs. Two-dimensional transoesophageal echocardiography (2D TEE) has become the election technique for guiding patent foramen ovale closure. Real-time Three-dimensional transoesophageal echocardiography (3D TEE) may be potentially superior to 2D TEE in the accurate assessment of the morphology and efficacy of transcatheter closure devices because of a better spacial orientation.


Subject(s)
Cardiac Catheterization/methods , Echocardiography, Three-Dimensional/methods , Echocardiography, Transesophageal/methods , Foramen Ovale, Patent/diagnostic imaging , Foramen Ovale, Patent/therapy , Follow-Up Studies , Humans , Male , Middle Aged , Risk Assessment , Treatment Outcome
15.
Rev. esp. cardiol. (Ed. impr.) ; 53(7): 1005-1007, jul. 2000.
Article in Es | IBECS | ID: ibc-2856

ABSTRACT

Describimos el caso de una paciente que presentó un sarcoma del tabique interauricular con un crecimiento muy acelerado y una evolución clínica fulminante, documentado mediante técnicas diagnósticas de imagen no invasivas, habituales en la práctica cardiológica. La historia natural de algunos tipos de tumores cardíacos malignos tan agresivos como el descrito explica el habitual retraso diagnóstico, la dificultad para instaurar un tratamiento curativo como la cirugía y/o poliquimioterapia/radioterapia y el pronóstico tan sombrío a corto plazo (AU)


Subject(s)
Adult , Female , Humans , Sarcoma , Time Factors , Cell Division , Magnetic Resonance Imaging , Heart Neoplasms
16.
Rev. esp. cardiol. (Ed. impr.) ; 53(7): 1008-1010, jul. 2000.
Article in Es | IBECS | ID: ibc-2857

ABSTRACT

Se han descrito múltiples anormalidades congénitas en la estructura de la válvula tricúspide, que en la mayoría de los casos podrían considerarse variantes de la anomalía de Ebstein. El grado de disfunción valvular y el tamaño y función del ventrículo derecho determinan el inicio de los síntomas y la edad del diagnóstico. Éste varía desde el nacimiento hasta la edad adulta, pero es raro el retraso diagnóstico si la regurgitación es severa. Se presenta el caso de un varón de 73 años, en grado funcional I de la NYHA hasta 5 meses antes. Desde entonces refería hinchazón abdominal y edemas en los miembros inferiores de carácter progresivo. La exploración física sugería insuficiencia tricuspídea severa. Se practicó un estudio ecocardiográfico transtorácico y transesofágico que evidenciaron gran displasia en los velos tricuspídeos, con regurgitación severa por falta de coaptación, así como dilatación de ambas cámaras derechas y disfunción sistólica del ventrículo derecho (AU)


Subject(s)
Aged , Male , Humans , Tricuspid Valve Insufficiency , Tricuspid Valve , Severity of Illness Index
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