Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Más filtros

Banco de datos
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Neuropediatrics ; 55(3): 156-165, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38365196

RESUMEN

ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7-25) years, with the most common presenting symptoms being gait problems (n = 19, 40.4%), seizures (n = 16, 34%), ataxia (n = 13, 27.6%), and weakness (n = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n = 21) and 7 (2-34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.


Asunto(s)
Ataxia , Humanos , Masculino , Niño , Femenino , Preescolar , Adolescente , Adulto Joven , Ataxia/genética , Ataxia/fisiopatología , Adulto , Lactante , Hipoventilación/genética , Hipoventilación/diagnóstico
2.
J Pediatr Orthop ; 44(7): e641-e646, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38888134

RESUMEN

BACKGROUND: Complex spinal deformities necessitate surgical interventions that may intervene with intrathecal injections in patients with spinal muscular atrophy (SMA). This study aimed to determine the effect of spinal deformity correction surgery on nusinersen administration. METHODS: Pediatric patients with SMA, operated by a single surgeon, either via magnetically controlled growing rod (MCGR) or definitive fusion (DF) with skip instrumentation, were evaluated retrospectively in terms of safety and feasibility of intrathecal injections. Patients' and their parents' perspectives were evaluated through a questionnaire regarding any shift in the setting of injections. RESULTS: Fourteen patients with 15 spinal surgeries (10 MCGR and 5 DF) were included. Eleven patients received intrathecal treatment both before and after the surgery. Preoperative (n=3) and postoperative (n=9) fluoroscopic guidance was required leading to a shift in the application settings in 6 patients. Of 106 preoperative injections, 15% required fluoroscopy and 2% required anesthesia. Postoperatively, of 88 injections, 73% required fluoroscopy and 26% required anesthesia. No patients discontinued intrathecal injections due to technical difficulties associated with the spinal surgery. CONCLUSIONS: This study demonstrates that spinal surgery does not prevent safe and successful intrathecal nusinersen injections. In the DF group, the skip instrumentation technique provided access to interlaminal space for intrathecal injections. In either surgical group, no further auxillary approach was required. Modifications in the injection technique require an institutional approach, and concerns of patients and their families should be addressed accordingly. LEVEL OF EVIDENCE: IV.


Asunto(s)
Inyecciones Espinales , Oligonucleótidos , Fusión Vertebral , Humanos , Oligonucleótidos/administración & dosificación , Estudios Retrospectivos , Masculino , Femenino , Preescolar , Niño , Fusión Vertebral/métodos , Lactante , Fluoroscopía , Atrofias Musculares Espinales de la Infancia/tratamiento farmacológico , Atrofias Musculares Espinales de la Infancia/cirugía , Resultado del Tratamiento , Atrofia Muscular Espinal/tratamiento farmacológico , Atrofia Muscular Espinal/cirugía , Estudios de Factibilidad
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA