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Managing intrathecal administration of nusinersen in adolescents and adults wit...
Mendonça,Rodrigo de Holanda; Fernandes,Hermann dos Santos; Pinto,Rafael Barbéro Schimmelpfeng; Matsui Júnior,Ciro; Polido,Graziela JorgeABSTRACT Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity. Nusinersen is an antisense oligonucleotide that increases SMN protein level and is administrated by frequent intrathecal lumbar injections. Thus, spinal deformities and previous spinal surgery are important challenges for drug delivery in SMA. Objectiv...
Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohume...
Silva,André Macedo Serafim da; Cavalcante,Wagner Cid Palmeira; Camelo,Clara Gontijo; Mendonça,Rodrigo de Holanda; Fortini,Ida; Carvalho,Mary Souza de
Cognitive performance of children with spinal muscular atrophy: A systematic re...
Polido,Graziela Jorge; Miranda,Mariana Mangini Vaz de; Carvas Junior,Nelson; Mendonça,Rodrigo de Holanda; Caromano,Fátima AparecidaABSTRACT Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant. Objective: To evaluate the evidence about cognitive outcomes in spinal muscular atrophy (SMA). Methods: Searches on the PUBMED/Medline, Web of Knowledge and Scielo databases retrieved 26 studies (1989 to 2019, descriptors “spinal mus...
Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive my...
Grativvol,Ronnyson Susano; Silva,André Macedo Serafim da; Guedes,Bruno Fukelmann; Estephan,Eduardo de Paula; Mendonça,Rodrigo de Holanda
Screening of epileptic seizures in children and adolescents with hydrocephalus ...
Amorim Júnior,Raimundo Francisco de; Dantas,Suerda Emiliana Cavalcanti; Mendonça,Rodrigo de Holanda; Rolim,Abdiel de Lira; Jales,Maria Luiza de CarvalhoOBJECTIVES: To assess the occurrence of epileptic seizures (ES) in children and adolescents with hydrocephalus and their relationship with ventriculoperitoneal shunt (VPS) treatment. METHODS: Retrospective study of 45 patients from both genders, aged 0 to 18 years, with hydrocephalus and presenting with ES or not. The following variables were analyzed: gender, hydrocephalus etiology, age at diagnosis, age at in...