RESUMEN
Cerebral palsy (CP) is the leading cause of physical disability in children. Although physical disability is the hallmark of CP, children with CP also often have complex medical comorbidities. Spastic hip subluxation is the second most common orthopaedic deformity in children with CP, and the incidence increases with the severity of CP. Hip surveillance should be implemented in children with CP to monitor hip stability over time. A reconstructive surgical procedure is recommended when the migration percentage is >40%. Perioperative care of children undergoing a hip reconstructive surgical procedure is a multidisciplinary endeavor requiring the expertise of professionals with different backgrounds. The core team should comprise orthopaedic surgeons, nurses, nurse practitioners, pediatricians, nurse case managers, anesthesiologists, and physical therapists. Additional team members include nutritionists, clinical pharmacists, social workers, child life therapists, and consulting specialty services. This review describes the team approach to the perioperative care of non-ambulatory children with spastic hip subluxation undergoing a reconstructive hip surgical procedure, utilizing a case scenario of a 7-year old girl with CP and complex associated medical comorbidities.
Asunto(s)
Parálisis Cerebral/enfermería , Articulación de la Cadera/cirugía , Procedimientos Ortopédicos , Grupo de Atención al Paciente , Atención Perioperativa , Anestesiólogos , Parálisis Cerebral/complicaciones , Parálisis Cerebral/rehabilitación , Niño , Femenino , Humanos , Cirujanos Ortopédicos , Pediatras , FisioterapeutasAsunto(s)
Cuidado del Niño/métodos , Anomalías Congénitas/terapia , Niños con Discapacidad/rehabilitación , Ciencia del Laboratorio Clínico/instrumentación , Adolescente , Niño , Preescolar , Enfermedad Crónica , Anomalías Congénitas/diagnóstico , Continuidad de la Atención al Paciente , Niños con Discapacidad/estadística & datos numéricos , Femenino , Humanos , Lactante , Recién Nacido , Cuidados a Largo Plazo , Masculino , PronósticoRESUMEN
Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to localize to the nuclear matrix and regulate chromatin structure. Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly). CHMP1A-mutant cells show impaired proliferation, with increased expression of INK4A, a negative regulator of stem cell proliferation. Chromatin immunoprecipitation suggests loss of the normal INK4A repression by BMI in these cells. Morpholino-based knockdown of zebrafish chmp1a resulted in brain defects resembling those seen after bmi1a and bmi1b knockdown, which were partially rescued by INK4A ortholog knockdown, further supporting links between CHMP1A and BMI1-mediated regulation of INK4A. Our results suggest that CHMP1A serves as a critical link between cytoplasmic signals and BMI1-mediated chromatin modifications that regulate proliferation of central nervous system progenitor cells.