RESUMO
Aim: To understand the bullying experiences of youth with neuromuscular conditions. Method: Fourteen participants with neuromuscular conditions (10 male; 10-19 years old) participated in semistructured interviews that were analyzed using inductive thematic analysis. Results: Four overarching themes were identified: (1) participants experienced stigma-based bullying; (2) participants exhibited resilience despite bullying victimization; (3) participants identified personally and theoretically helpful and unhelpful supports with regard to bullying; and (4) participants proposed bullying interventions. Interpretation: Individuals with neuromuscular conditions had unique experiences and perspectives on bullying. This qualitative study provides health care professionals with insight into the bullying experiences of patients with neuromuscular conditions. Findings highlight the role for formal and informal education to mitigate stigma-based bullying and increased opportunities for peer support as a protective factor against bullying.
RESUMO
AIM: To evaluate clinical and imaging features in patients with acute necrotizing encephalopathy of childhood (ANEC) to identify predictors of RANBP2 mutations, influenza association, and long-term outcomes. METHOD: A retrospective chart review in patients with ANEC (2012-2020) seen at a tertiary pediatric center was performed. Children were included if they had acute inflammatory lesions in the basal ganglia and pons. Variables included presenting features, imaging characteristics, RANBP2 gene testing, nasopharyngeal swab findings, therapies, and long-term outcomes. RESULTS: Twenty patients were included (average age at presentation 3y 6mo, interquartile range 3y 7mo, SD 2y 8mo; 14 females, six males). Three of the 20 experienced recurrences; one of the 20 died. Ten patients were influenza positive. Seven patients were RANBP2 mutation positive. A higher likelihood of hemorrhage was observed in patients who were influenza positive compared to influenza negative (p=0.048). Patients with influenza had a higher degree of thalamic hemorrhage (2, p=0.035) and greater extent of diffusion restriction (3, p=0.035) in semiquantitive analysis. INTERPRETATION: Children with ANEC who are positive for influenza are more likely to have hemorrhage and greater thalamic swelling. RANBP2 status was predictive of relapse but not predictive of overall outcome.
Assuntos
Encefalite , Influenza Humana , Leucoencefalite Hemorrágica Aguda , Chaperonas Moleculares , Complexo de Proteínas Formadoras de Poros Nucleares , Doença Aguda , Criança , Encefalite/genética , Feminino , Humanos , Influenza Humana/complicações , Influenza Humana/genética , Leucoencefalite Hemorrágica Aguda/genética , Masculino , Chaperonas Moleculares/genética , Mutação , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Estudos RetrospectivosRESUMO
Neonatal hyperthyroidism is usually caused by the passage of maternal thyroid receptor antibodies. This relatively rare condition has various manifestations including cholestasis, prematurity, and cardiomegaly. We present a case of a preterm infant with neonatal Graves' disease who presented with cholestasis, cardiomegaly, and a macularpapular rash that was thought to be suspicious for congenital infection. This case has been reported to illustrate lessons learnt for early identification of a neonate with Graves' disease in order to expedite treatment.