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O presente artigo apresenta os dados preliminares da pesquisa hemerográfica sobre a violência noticiada pela mídia impressa no município de Campos dos Goytacazes, de forma a compreender a espacialização dos episódios de violência no município e as imagens construídas sobre esses bairros e seus moradores, considerando a importância desse debate para a categoria dos assistentes sociais. PURL: purl.oclc.org/r.ml/v4n2/a9

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity—there are over 80 potential disease-associated genes—and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy.

Introduction: There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient.Material and Methods: A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily. Magnetic resonance spectroscopy (MRS), muscle histochemical analysis and assay of mitochondrial enzymatic activities, and mitochondrial DNA sequencing were performed.Results: Neurological examination showed drowsiness, vertical gaze palsy, inability to either stand or walk, diffuse weakness, increased tendon reflexes. Blood lactate was increased, EEG showed diffuse theta and delta activity, MRI subcortical atrophy and leukoencephalopathy, MRS marked reduction of the NAA spectrum, with a small signal compatible with presence of lactate. Muscle biopsy evidenced presence of ragged red fibers (20%) and reduced COX reactivity. Assay of the muscle enzymatic activities showed multiple deficiencies of the electron transport chain and reduced ATP production. The mt.8393C>T variant in the MT-ATP8 gene was found in homoplasmy. The patient considerably improved after valproate withdrawal.Conclusion: The variant we found has been reported both as a polymorphism and, in a single patient, as related to the valproate-induced encephalopathy. The present case is the first bearing this mutation in homoplasmy. In case of neurological symptoms after starting VPA therapy, once hyperammonemia and liver failure have been ruled out, mtDNA abnormalities should be considered.

RESUMO Os desastres relacionados às águas, ocorridos no Brasil, aprofundaram e ampliaram as pesquisas sobre tais fenômenos. Este artigo analisa os conflitos decorrentes da resposta do governo da cidade de Campos dos Goytacazes/RJ às consequências dos desastres: o programa de habitação popular “Morar Feliz”. Realizaram-se levantamentos bibliográficos, coleta de dados em órgãos públicos e entrevistas com moradores reassentados. Os resultados indicam a existência de conflito de interesses que opõem os moradores que reivindicam ficar no bairro em que residem, ou próximo a ele, e o governo municipal, que promove a expansão urbana em áreas com insuficiência de infraestrutura urbana. Palavras-Chave: desastres ambientais, habitação popular, risco. RESUMEN Los desastres relacionados con el agua que ocurrieron en Brasil profundizaron y ampliaron las investigaciones sobre estos fenómenos. En este artículo se analizan los conflictos que surgen como resultado de la respuesta del gobierno de la ciudad de Campos dos Goytacazes / RJ frente a las consecuencias de los desastres: el programa de vivienda pública "Morar Feliz". La investigación se basó en la literatura sobre el tema, en recolección de datos en los organismos públicos y en entrevistas con residentes reasentados. Los resultados indican la existencia de conflictos de intereses que oponen a los residentes que pretenden permanecer en el distrito en el que residen, o al menos cerca; al gobierno municipal, que promueve la expansión urbana en las zonas con insuficiencia de infraestructura urbana. Palabras Clave: Desastres ambientales, viviendas públicas, riesgo. ABSTRACT Water-related disasters occurred in Brazil deepened and expanded researches on such phenomena. This article analyzes the conflicts arising from the response of the government of the city of Campos dos Goytacazes / RJ concerning the consequences of these disasters: the public housing program "Morar Feliz". There were conducted bibliographic researches, data collection in public entities and interviews with residents resettled. The results indicate the existence of conflict of interests that opposes residents who claim to stay in the district in which they reside, or close to it; and the municipal government, which promotes urban sprawl in areas with lack of urban infrastructure. Keywords: Environmental disasters, public housing, risk.

O artigo tem como objetivo discutir a questão da moradia popular em Campos dos Goytacazes-RJ, com foco na análise da política municipal de habitação – o Programa Morar Feliz – voltada para a construção de casas para famílias de baixa renda. Esse Programa, respaldado pelas gestões municipais 2008-2012 e 2013-2016, vem sendo dividido em duas etapas. Na primeira, 2010-2012, foram construídas 5.426 unidades habitacionais. Na segunda, 2013-2015, prevê-se a construção de 4.574 casas populares. Ao todo, o Morar Feliz, orçado em R$357 milhões, visa beneficiar 10.000 famílias, provocando um grande deslocamento de pessoas na área urbana, transferindo-as para diversos loteamentos localizados na periferia da cidade. Na segunda etapa, prevê-se a remoção dos moradores da Favela Margem da Linha, área de grande interesse imobiliário. Durante esta pesquisa, foram realizados levantamentos bibliográficos, coletas de dados em órgãos públicos, entrevistas com os moradores da Favela Margem da Linha e oficinas com jovens dessa comunidade, nas quais refletiu-se sobre os processos sociopolíticos e econômicos que motivam a política municipal em curso. Os resultados indicam a existência de um conflito de interesses entre os moradores, de um lado, e os agentes econômicos e o Estado, que estão promovendo a expansão urbana no município, de outro.

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype.