Silvia Sanchez Marco
A5072725827- Neurogenetic and Muscular Disorders Research
- Cardiac Structural Anomalies and Repair
- Neonatal and fetal brain pathology
- Congenital Anomalies and Fetal Surgery
- Neuroendocrine regulation and behavior
- Muscle Physiology and Disorders
- Sirtuins and Resveratrol in Medicine
- Exercise and Physiological Responses
- Neuroscience of respiration and sleep
- Prenatal Screening and Diagnostics
- Congenital heart defects research
Bristol Royal Hospital for Children
2022-2024
Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use older heavier children. This study evaluated OA patients with SMA type 1 UK, including ≥2 years old weighing ≥13.5 kg.
Apneic events are frightening but largely benign that often occur in infants. Here, we report apparent life-threatening apneic an infant with the homozygous SCN1A L263V missense mutation, which causes familial hemiplegic migraine type 3 heterozygous family members, absence of epilepsy. Observations consistent were made Scn1a knock-in mouse model, apnea was preceded by a large brainstem DC-shift, indicative profound depolarization. The mutation caused gain Na V 1.1 function effects...
Retrospective review of referrals to the National-Multidisciplinary-Team (NMDT) in England (& Wales), and clinical records SMAtype1 patients included for Zolgensma® therapy UK. Data was available 42 patients: 13, 12, 10, 6, 1 from Evelina-London, Sheffield, Bristol, Manchester Belfast centres respectively. Patients’ age ranged 2-months 46-months weights 4.44kg 13.5kg. Post-Zolgensma-infusion monitoring: Most had asymptomatic thrombocytopaenia week-1, resolving by week-2. No thrombotic...