Comprehensive annotation of the Parastagonospora nodorum reference genome using next-generation genomics, transcriptomics and proteogenomics

Parastagonospora nodorum, the causal agent of Septoria nodorum blotch (SNB), is an economically important pathogen of wheat (Triticum spp.), and a model for the study of necrotrophic pathology and genome evolution. The reference P. nodorum strain SN15 was the first Dothideomycete with a published genome sequence, and has been used as the basis for comparison within and between species. Here we present an updated reference genome assembly with corrections of SNP and indel errors in the underlying genome assembly from deep resequencing data as well as extensive manual annotation of gene models using transcriptomic and proteomic sources of evidence (https://github.com/robsyme/Parastagonospora_nodorum_SN15). The updated assembly and annotation includes 8,366 genes with modified protein sequence and 866 new genes. This study shows the benefits of using a wide variety of experimental methods allied to expert curation to generate a reliable set of gene models

Vigabatrin in refractory childhood epilepsy. The Brazilian multicenter study

Children, 47, with various types of severe drug-resistant epilepsy were entered into a prospective, add-on, open trial with vigabatrin. Patients with West syndrome and idiopathic generalized epilepsies were excluded. Seven children had the drug withdrawn, five because of increase in seizure frequency and two because of adverse effects. Drug efficacy, measured according to seizure type, showed a 100% decrease in seizure frequency in 18.6% of partial seizures and 17.3% of the generalized seizures. There was a higher than 500% decrease in 39.5% of partial and 60.8% of generalized seizures, and less than 50% decrease or increase in seizure frequency in 41.8% and 21.8% of partial and generalized seizures, respectively. Vigabatrin mean dosage during phase 3 was 63.6 mg/kg per day (S.D. = 30.5), ranging from 19.3 to 110.5 mg/kg per day. Parametric statistical analysis (Student's t-test) of seizure frequency between phases 1 and 3 showed a significant decrease in seizure frequency for partial (P = 0.022), and generalized seizures (P < 0.0001). Drug-related adverse effects were observed in 18/47 cases (38.3%), consisting mainly of irritability, hyperactivity, dizziness, somnolence and gastrointestinal symptoms. (C) 1997 Elsevier Science B.V.2911

Subacute sclerosing panencephalitis: clinical aspects and prognosis. The Brazilian Registry Panencefalite esclerosante subaguda, aspectos clínicos e prognóstico: Registro Brasileiro

Subacute sclerosing panencephalitis (SSPE) is an inflammatory neurodegenerative disease related to the persistence of measles virus. Although its frequency is declining because of measles eradication, we still have some cases being diagnosed. With the aim to describe epidemiological aspects of SSPE in Brazil, we sent a protocol to Child Neurologists around the country, 48 patients were registered, 27 (56 %) were from the southeast region, 34 (71%) were male and 35 (73%) white, 27 (56%) had measles, 9 (19%) had measles and were also immunized, 7 (14%) received only immunization, 1 patient had a probable neonatal form. Mean time between first symptoms and diagnosis was 12 months (22 started with myoclonus or tonic-clonic seizures, 7 (14%) with behavioral disturbances); 36 patients (75%) had EEG with pseudoperiodic complexes. Follow up performed in 28 (58 %) patients showed: 12 died, 2 had complete remission and the others had variable neurological disability Our data shows endemic regions in the country, a high incidence of post-immunization SSPE and a delay between first symptom and diagnosis.<br>A panencefalite esclerosante subaguda é doença neurodegenerativa inflamatória relacionada à persistência do vírus do sarampo no organismo. Sua incidência vem diminuindo significativamente com a erradicação do sarampo, mas eventualmente alguns casos ainda têm sido diagnosticados. Com o objetivo de descrever aspectos epidemiológicos da panencefalite no Brasil contactamos Neurologistas Infantis de todo país. Foram registrados 48 pacientes, 27% da região sudeste, 34 (70%) do sexo masculino, 35 (73%) brancos, 9 (19%) apresentaram sarampo e receberam imunização, 7 (14%) somente imunizados, um paciente apresentou provável forma neonatal. Intervalo médio entre primeiro sintoma e diagnóstico de 12 meses, 22 pacientes (45%) iniciaram o quadro com mioclonus ou convulsões tônico-clônicas, 7 (14%) com distúrbios comportamentais; 36 (75%) apresentaram EEG com complexos pseudoperiódicos. Seguimento de 28 pacientes (57%) demonstrou 12 óbitos, 2 remissões completas, demais com sequelas neurológicas. Nossos resultados evidenciam regiões endêmicas no país, alta incidência de casos pós-imunização e demora na confirmação do diagnóstico

Significance of background activity and positive sharp waves in neonatal electroencephalogram as prognostic of cerebral palsy Valor do ritmo de base e da onda aguda positiva no eletrencefalograma neonatal como prognóstico da paralisia cerebral

OBJECTIVE: To study the significance of electroencephalographic background activity and positive sharp waves in neonatal electroencephalogram as prognostic of cerebral palsy. METHOD: We studied prospectively and sequentially 73 newborns who had severe neonatal complications (neonatal anoxia, seizures, respiratory distress, sepsis, and meningitis). Nineteen newborns were excluded and 54 children formed the object of our study and were followed for 2 years. We analyzed gestational age, conceptional age, electroencephalographic background activity and positive sharp waves, which were correlated with cerebral palsy. RESULTS: There were no statistically significant correlation between gestational age and conceptional age and cerebral palsy; the electroencephalographic background activity was correlated with cerebral palsy as well as the positive sharp waves. CONCLUSION: Children with electroencephalographic background activity markedly abnormal and accompanied by positive sharp waves were associated with a worse prognosis.<br>OBJETIVO: Estudar o valor do ritmo de base e das ondas agudas positivas no eletrencefalograma neonatal como prognóstico da paralisia cerebral. MÉTODO: Nós estudamos, prospectiva e sequencialmente, 73 recém-nascidos que apresentaram complicações neonatais graves (anoxia neonatal, crises convulsivas, desconforto respiratório, septicemia e meningite). Dezenove recém-nascidos foram excluídos e 54 crianças formaram o objeto do nosso estudo e foram seguidas por 2 anos. Nós analisamos a idade gestacional, a idade corrigida, o ritmo de base e as ondas agudas positivas, que foram correlacionadas com a paralisia cerebral. RESULTADOS: Não houve correlação estatisticamente significante entre as idades gestacional e corrigida com a paralisia cerebral; o ritmo de base foi correlacionado com a paralisia cerebral, tanto quanto as ondas agudas positivas. CONCLUSÃO: Crianças com o eletrencefalograma com o ritmo de base marcadamente anormal e ondas agudas positivas estão associadas com pior prognóstico neurológico