RESUMO
INTRODUCTION: Spinal muscular atrophy is a congenital condition associated with mutations in the SMN1 gene. Patients have normal intellectual development, but the natural history is progressive respiratory failure resulting in premature death. CASE: Diagnosed with spinal muscular atrophy type 2 in early primary school, the wheelchair-bound girl developed severe pneumonia on one occasion, when she became critically ill and was admitted to the paediatric intensive care unit with multiorgan dysfunction, requiring mechanical ventilation and high inotropic support. Parents and the patient expressed strong desire for full respiratory and intensive care support to be given. Survived the episode, she is wheelchair ambulatory and continues to pursue a creative artistic career. DISCUSSION: Children with SMA and their families need to be supported by a comprehensive multi-disciplinary team to manage this illness. Pediatricians and healthcare givers must provide up-to-date health advice on COVID-19 prophylaxis and management to special groups of patients with respiratory and neurological risks.
Assuntos
COVID-19 , Atrofia Muscular Espinal , Insuficiência Respiratória , Atrofias Musculares Espinais da Infância , Criança , Cuidados Críticos , Feminino , Humanos , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/terapiaRESUMO
Mechanical feedback is one of the most common difficulties encountered when fitting hearing aids for toddlers and young children. We described the use of 3D printing to tailor a protective cap for a toddler with bilateral microtia/canal atresia to facilitate bone-anchoring hearing aid use.
Assuntos
Auxiliares de Audição , Perda Auditiva Condutiva/reabilitação , Impressão Tridimensional , Ajuste de Prótese/instrumentação , Equipamentos de Proteção , Condução Óssea , Pré-Escolar , Microtia Congênita/reabilitação , Meato Acústico Externo/anormalidades , Desenho de Equipamento , Feminino , Perda Auditiva Condutiva/congênito , Humanos , Ilustração Médica , Próteses e ImplantesRESUMO
A minimally invasive technique of chest drain insertion using the Mini Step bladeless trocar is described. Thirty-one chest drain insertions were performed with this technique between January 2007 and December 2009. It is a safe, efficient, fast, and easily acquired means of chest drain insertion in children, which has a high success rate and minimal morbidity. Overwhelmingly positive responses were obtained from doctors of all levels who used this technique, which is highly recommended for chest drain insertion in conscious children.