RESUMO
OBJECTIVE: Some countries have implemented systems to monitor suicides in real-time. These systems differ because of the various ways in which suicides are identified and recorded. The main objective of this study was to conduct an international comparison of major real-time suicide mortality surveillance systems to identify joint strengths, challenges, and differences, and thereby inform best-practice criteria at local, national, and international levels. METHODS: Five major real-time suicide mortality surveillance systems of various coverage levels were identified and selected for review via an internet-based scoping exercise and prior knowledge of existing systems. Key information including the system components and practices was collated from those organizations that developed and operate each system using a structured template. The information was narratively and critically synthesized to determine similarities and differences between the systems. RESULTS: The comparative review of the five established real-time suicide surveillance systems revealed more commonalities than differences overall. Commonalities included rapid, routine surveillance based on minimal, provisional data to facilitate timely intervention and postvention efforts. Identified differences include the timeliness of case submission and system infrastructure. CONCLUSION: The recommended criteria could promote replicable components and practices in real-time suicide surveillance while offering flexibility in adapting to regional/local circumstances and resource availability.HIGHLIGHTSEvidence-informed recommendations for current best practice in real-time suicide surveillance.Proposed comprehensive framework can be adapted based on available resources and capacity.Real-time suicide mortality data facilitates rapid data-driven decision-making in suicide prevention.
RESUMO
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.
Assuntos
Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/genética , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/genética , Hipotricose/diagnóstico , Hipotricose/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Mutação , Fatores de Transcrição/genética , Alelos , Hibridização Genômica Comparativa , Análise Mutacional de DNA , Eletroencefalografia , Éxons , Fácies , Feminino , Genótipo , Humanos , Lactente , Imageamento por Ressonância Magnética , FenótipoAssuntos
Transtornos dos Movimentos/genética , Canal de Sódio Disparado por Voltagem NAV1.6/genética , Espasmos Infantis/genética , Eletroencefalografia , Eletromiografia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Transtornos dos Movimentos/diagnóstico , Espasmos Infantis/diagnósticoRESUMO
A 6-year-old female presented with right hemichorea, initially thought to be post-streptococcal, which subsequently progressed to a right dystonic hemiplegia. At 7 1/2 years she developed right focal and secondary generalized tonic-clonic seizures. These became intractable. A brain biopsy was consistent with Rasmussen's encephalitis (RE). At 9 1/2 years the child underwent a left hemispherectomy making a good recovery with resolution of seizures. At 12 years she presented with recurrent episodes of abdominal pain, fever, and malar rash with serological evidence of systemic lupus erythematosus (SLE). A possible link between RE and SLE is discussed.
