A5107965790- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Cystic Fibrosis Research Advances
- Congenital Heart Disease Studies
- Glycogen Storage Diseases and Myoclonus
- Myasthenia Gravis and Thymoma
- RNA Research and Splicing
- Metabolism, Diabetes, and Cancer
- Nuclear Structure and Function
- Genetic Neurodegenerative Diseases
- Delphi Technique in Research
- Assistive Technology in Communication and Mobility
- Head and Neck Anomalies
Hospital Italiano de Buenos Aires
2018-2023
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this cancer risk, there are no widely accepted guidelines for surveillance in people affected by A‐T. We aimed understand the current international practice regarding A‐T and agreed‐upon approaches develop Design/Methods used consensus development method, e‐Delphi technique, comprising three rounds. Round 1 consisted of Delphi questionnaire survey that collected...
Reporte de casos RESUMENEl síndrome Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos.La atrofia muscular espinal (AME), por su parte, una enfermedad neuromuscular caracterizada degeneración progresiva las motoneuronas del asta anterior médula que produce muscular, debilidad y parálisis.Presentamos el caso niña 6 años con derivada a nuestro centro para estudio cuadro generalizada evolución crónica falta adquisición marcha.Realizamos revisión bibliográfica...
Spinal muscular atrophy (SMA) is a rare, but severe disease, which characterized by progressive weakness resulting in permanent assisted ventilation before the age of 2. Supportive care used to be only available treatment. However, relevant progress has been achieved with approval nusinersen (an antisense oligonucleotide modulating SMN2 splicing), changed disease outcome for many patients. Thus, management SMA patients requires multidisciplinary approach pharmacological and...