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1.
Plant Cell Physiol ; 59(1): e2, 2018 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-29216377

RESUMEN

Applying next-generation sequencing (NGS) technologies to species of agricultural interest has the potential to accelerate the understanding and exploration of genetic resources. The storage, availability and maintenance of huge quantities of NGS-generated data remains a major challenge. The PeachVar-DB portal, available at http://hpc-bioinformatics.cineca.it/peach, is an open-source catalog of genetic variants present in peach (Prunus persica L. Batsch) and wild-related species of Prunus genera, annotated from 146 samples publicly released on the Sequence Read Archive (SRA). We designed a user-friendly web-based interface of the database, providing search tools to retrieve single nucleotide polymorphism (SNP) and InDel variants, along with useful statistics and information. PeachVar-DB results are linked to the Genome Database for Rosaceae (GDR) and the Phytozome database to allow easy access to other external useful plant-oriented resources. In order to extend the genetic diversity covered by the PeachVar-DB further, and to allow increasingly powerful comparative analysis, we will progressively integrate newly released data.


Asunto(s)
Biología Computacional/métodos , Variación Genética , Genoma de Planta/genética , Prunus persica/genética , Minería de Datos/métodos , Bases de Datos Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Internet , Filogenia , Polimorfismo de Nucleótido Simple , Prunus persica/clasificación , Rosaceae/clasificación , Rosaceae/genética
2.
J Orthop Traumatol ; 12(1): 61-4, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21350893

RESUMEN

Total extrusion of the talus with interruption of all ligaments (missing talus) is a rare injury. We describe the case of a 27-year-old man who reported total extrusion of the talus after a motorbike accident with interruption of all talar ligaments. In the first repair effort, the articular void left by the talus was filled with antibiotic cement and the wound was closed primarily. Nevertheless, the skin overlying the talar joint displayed necrosis. In order to cover the cutaneous defect, improve local vascularization, and allow reimplantation of the talus, a sural fasciocutaneous island flap was harvested. Subsequently, the original talus was placed and arthrodesis of the subtalar joint was performed. The patient was able to walk bearing full weight without support equipment after 6 months. Several therapeutic options have been suggested in such cases, including replacing the talus, tibiocalcaneal arthrodesis, and pseudoarthrodesis. The rarity and peculiarity of such cases make the establishment of generalized guidelines an arduous task, leaving the choice of treatment to the surgeon, in conformity with each case's peculiarity. In this case use of the flap may have promoted the vascularization of the reimplanted talus, thus avoiding avascular necrosis and allowing successful reimplantation of the original talus.


Asunto(s)
Traumatismos del Tobillo/cirugía , Fracturas Abiertas/cirugía , Procedimientos Ortopédicos/métodos , Astrágalo/lesiones , Astrágalo/cirugía , Adulto , Traumatismos del Tobillo/diagnóstico por imagen , Fracturas Abiertas/diagnóstico por imagen , Humanos , Masculino , Radiografía , Colgajos Quirúrgicos , Astrágalo/diagnóstico por imagen
3.
Ital Heart J ; 5 Suppl 6: 68S-75S, 2004 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15185918

RESUMEN

Heart failure (HF) may complicate ischemic heart disease in both its acute and chronic manifestations, representing a prevalent health problem throughout the world. Development of therapies to improve heart function, relieve symptoms, reduce hospitalizations and improve survival is a high priority in cardiovascular medicine. The available pharmacological strategies, including angiotensin-converting enzyme inhibitors, angiotensin receptor antagonists, beta-blockers, and aldosterone receptor antagonists have recently been complemented by new electrical therapy, including implantable cardioverter-defibrillators for "MADIT II" patients and cardiac resynchronization for the 30% of HF patients with concomitant intraventricular conduction delay. The wide variety of available HF medications provides ample evidence that we have not yet succeeded in this effort. Safe and effective inotropic electrical therapy could be a useful addition to our therapeutic armamentarium in an attempt to correct Ca2+ fluxes abnormalities during the cardiac action potential. Cardiac contractility modulation (CCM) by means of non-excitatory electrical currents delivered during the action potential plateau has been shown to acutely enhance systolic function in humans with HF. Herewith, we report on our preliminary experience with CCM therapy for patients with HF, providing fundamental notions to characterize the rationale of this novel form of therapy. Briefly, CCM therapy appears to be safe and feasible. Proarrhythmic effects of this novel therapy seem unlikely. Preliminary data indicate that CCM gradually and significantly improves systolic performance, symptoms and functional status. The technique would appear to be attractive as an additive treatment for severe HF. Controlled randomized studies are needed to validate this novel concept.


Asunto(s)
Terapia por Estimulación Eléctrica , Insuficiencia Cardíaca/fisiopatología , Insuficiencia Cardíaca/terapia , Contracción Miocárdica/fisiología , Potenciales de Acción/fisiología , Volumen Cardíaco/fisiología , Humanos , Volumen Sistólico/fisiología , Función Ventricular Izquierda/fisiología
4.
J Cardiovasc Electrophysiol ; 15(4): 418-27, 2004 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15089990

RESUMEN

INTRODUCTION: Conventional electrical therapies for heart failure (HF) encompass defibrillation and ventricular resynchronization for patients at high risk for lethal arrhythmias and/or with inhomogeneous ventricular contraction. Cardiac contractility modulation (CCM) by means of nonexcitatory electrical currents delivered during the action potential plateau has been shown to acutely enhance systolic function in humans with HF. The aim of this multicenter study was to assess the chronic safety and preliminary efficacy of an implantable device delivering this novel form of electrical therapy. METHODS AND RESULTS: Thirteen patients with drug-resistant HF (New York Heart Association [NYHA] class III) were consecutively implanted with a device (OPTIMIZER II) delivering CCM biphasic square-wave pulses (20 ms, 5.8-7.7 V, 30 ms after detection of local activation) through two right ventricular leads screwed into the right aspect of the interventricular septum. CCM signals were delivered 3 hours daily over 8 weeks (3-hour phase) and 7 hours daily over the next 24 weeks (7-hour phase). Safety and feasibility of this novel therapy were regarded as primary endpoints. Preliminary clinical efficacy, -as expressed by changes in ejection fraction (EF), NYHA class, 6-minute walking test (6-MWT), peak O(2) uptake (peak VO(2)), and Minnesota Living with HF Questionnaire (MLWHFQ), was assessed at baseline and at the end of each phase. At the end of follow-up (8.8 +/- 0.2 months), all patients were alive, without heart transplantation or need for left ventricular assist device. Serial 24-hour Holter analysis revealed no proarrhythmic effect. No devices malfunctioned or failed for any reason other than end-of-battery life. Throughout the two study phases, EF improved from 22.7 +/- 7% to 28.7 +/- 7% and 37 +/- 13% (P = 0.004), 6-MWT from 418 +/- 99 m to 477 +/- 96 m and 510 +/- 107 m (P = 0.002), MLWHFQ from 36 +/- 21 to 18 +/- 12 and 7 +/- 6 (P = 0.002), peak VO(2) from 13.7 +/- 1.1 to 14.9 +/- 1.9 to 16.2 +/- 2.4 (P = 0.037), and NYHA class from 3 to 1.8 +/- 0.4 to 1.5 +/- 0.7 (P < 0.001). CONCLUSION: CCM therapy appears to be safe and feasible. Proarrhythmic effects of this novel therapy seem unlikely. Preliminary data indicate that CCM gradually and significantly improves systolic performance, symptoms, and functional status. CCM therapy for 7 hours per day is associated with greater dispersion near the mean, emphasizing the need to individually tailor CCM delivery duration. The technique appears to be attractive as an additive treatment for severe HF. Controlled randomized studies are needed to validate this novel concept.


Asunto(s)
Desfibriladores Implantables , Terapia por Estimulación Eléctrica/métodos , Insuficiencia Cardíaca/terapia , Contracción Miocárdica/fisiología , Sístole/fisiología , Enfermedad Crónica/terapia , Resistencia a Medicamentos , Terapia por Estimulación Eléctrica/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo , Seguridad , Encuestas y Cuestionarios , Resultado del Tratamiento
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