Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing

Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.

Transparência, corrupção e má gestão: uma análise dos municípios brasileiros / Transparencia, corrupción y mala gestión: un análisis de los municipios brasileños / Transparency, corruption, and mismanagement: an analysis of Brazilian municipalities

Artigo Compromisso institucional com a transparência pública tem relação negativa com corrupção e má gestão governamental? A instituição de Lei de Acesso à Informação (LAI) reduz o custo de acesso à informação pública e o controle dos governantes sobre ela, possibilitando o monitoramento do governo. Assim, maior transparência melhoraria a performance governamental. Para testar a hipótese, usamos modelos de regressão linear para 320 municípios brasileiros. Empregamos 3 medidas do compromisso institucional dos municípios com a transparência pública: a) a regulamentação da LAI no município; b) o grau de regulamentação com base nos dispositivos da LAI em nível local; e c) o tempo de adesão como medida de institucionalização da transparência pública. Como medida de performance, consideramos irregularidades de corrupção e má gestão identificadas nos relatórios de auditorias da Controladoria-Geral da União via sorteios públicos (2011-2015), com classificação usando aprendizado de máquina não supervisionado. Os resultados da análise são 3: a) a adesão dos municípios à LAI ainda é muito reduzida; b) nos municípios que aderiram, transparência não apresenta associação com a performance governamental; e c) apenas desenvolvimento econômico e qualidade da burocracia apresentam correlação negativa com o número de irregularidades. Os resultados indicam que o esforço na direção de uma gestão mais transparente ainda não gerou os resultados esperados.

Resumen ¿El compromiso institucional con la transparencia pública reduce la corrupción y la mala gestión del gobierno? La institución de la Ley de Acceso a la Información (LAI) reduce el costo de acceso a la información pública y el control de los funcionarios del gobierno sobre ella, lo que permite que el gobierno sea monitoreado. Por lo tanto, una mayor transparencia mejoraría el desempeño del gobierno. Para probar la hipótesis, usamos modelos de regresión lineal en 320 municipios brasileños. Empleamos tres medidas del compromiso institucional de los municipios con la transparencia pública: la regulación de la LAI en el municipio; el grado de regulación basado en las disposiciones de la LAI a nivel local; y el tiempo de adhesión como medida de institucionalización de la transparencia pública. Como medida de rendimiento, consideramos las irregularidades de corrupción y mala gestión identificadas en los informes de auditoría de la Contraloría General de la Federación a través de sorteos públicos (2011-2015), con clasificación mediante aprendizaje automático no supervisado. Los resultados del análisis son tres: la adhesión de los municipios a la LAI todavía es muy baja; en los municipios que se adhirieron la transparencia no está asociada al desempeño del gobierno; y solo el desarrollo económico y la calidad de la burocracia tienen correlación negativa con el número de irregularidades. Los resultados indican que el esfuerzo hacia una gestión más transparente aún no ha generado los resultados esperados.

Abstract Does institutional commitment to public transparency reduce corruption and public mismanagement? The regulation of freedom of information laws (FOI) reduces the cost of accessing public information and the control of government officials over it, allowing for monitoring of the government. Thus, greater transparency improves government performance. To test the hypothesis, we used linear regression models for 320 Brazilian municipalities. We employ three measures of municipality institutional commitment to public transparency: FOI regulation in the municipality; the degree to which the local level regulation was based on the national law's provisions; and time the municipality took to adhere to the legislation, as a measure of institutionalization of public transparency. As a performance measure, we consider corruption and mismanagement irregularities identified in the audit reports of the Comptroller General of Brazil (2011-2015), with classification using unsupervised machine learning. The results are threefold: the municipalities' adherence to FOI is still very low; in the municipalities that regulated the law locally, transparency is not seen to be associated with government performance; only economic development and quality of bureaucracy have a negative correlation with the number of irregularities. These results indicate that the effort towards more transparent management has not yet generated the expected results.

Corrupção e má gestão nos gastos com educação: fatores socioeconômicos e políticos / Corrupción y mala gestión en los gastos en educación: factores socioeconómicos y políticos / Corruption and mismanagement in spending on education: socioeconomic and political factors

Resumo O objetivo desta pesquisa foi analisar os fatores socioeconômicos e políticos que influenciaram a ocorrência de corrupção e má gestão nos gastos com o ensino básico nos municípios brasileiros. As fontes de dados usadas foram os relatórios das fiscalizações realizadas pela Controladoria-Geral da União (CGU) de 2011 a 2015 e os websites da Federação das Indústrias do Estado do Rio de Janeiro (FIRJAN), do Instituto Brasileiro de Geografia e Estatística (IBGE), do Tribunal Superior Eleitoral (TSE) e da Secretaria do Tesouro Nacional (STN). Os dados foram analisados por meio de procedimentos descritivos e regressão Binomial Negativo. De modo geral, os resultados indicaram que a possibilidade de reeleição do prefeito e a atuação dos conselhos municipais afetaram significativamente a incidência de corrupção. Por sua vez, a ocorrência de má gestão apresentou relação significativa com o perfil do eleitor e atuação dos conselhos municipais. Esses achados destacam a relevância dos conselhos municipais como instrumentos de acompanhamento e fiscalização da aplicação dos recursos públicos destinados ao ensino básico nos municípios brasileiros.

Resumen El objetivo de esta investigación es analizar los factores socioeconómicos y políticos que influenciaron el surgimiento de corrupción y de mala gestión de los gastos en enseñanza básica en los municipios brasileños. Las fuentes de datos utilizadas fueron los informes de las fiscalizaciones realizadas por la Contraloría General de la Unión entre los años 2011 a 2015; y los sitios web de la Federación de las Industrias del Estado de Río de Janeiro, del Instituto Brasileño de Geografía y Estadística, del Tribunal Superior Electoral y de la Secretaría del Tesoro Nacional. Para el análisis de los datos se realizaron procedimientos descriptivos y la regresión binomial negativo. En general, los resultados indicaron que la posibilidad de reelección del alcalde y el desempeño de los consejos municipales afectaron significativamente la incidencia de la corrupción. A su vez, la mala gestión mostró una relación significativa con el perfil del votante y el desempeño de los consejos municipales. Estos hallazgos destacan la relevancia de los consejos municipales como instrumento de seguimiento y fiscalización de la aplicación de los recursos públicos destinados a la enseñanza básica de los municipios brasileños.

Abstract This research analyzes the socioeconomic and political factors that influence the occurrence of corruption and mismanagement in public spending on basic education in Brazilian municipalities. The sources of data were the inspection reports of the Comptroller General of the Union during 2011 to 2015; and the websites of the Federation of Industries of the State of Rio de Janeiro, the Brazilian Institute of Geography and Statistics, the Superior Electoral Court, and the National Treasury Secretariat. The data analysis adopted descriptive procedures and binomial negative regression. Overall, the results indicate that the possibility of reelection of the mayor and the performance of municipal councils affected the incidence of corruption. In turn, an occurrence of mismanagement shows a significant relationship with the voter's profile and the performance of municipal councils. These findings highlighted the relevance of municipal councils as an instrument for monitoring and supervising public spending on basic education of Brazilian municipalities.

The analysis of misdiagnosis and mismanagement of 145 patients with Guillain-Barr? syndrome in the emergency department / 中华急诊医学杂志

Objective To study the clinical characteristics of Guillain-Barr? syndrome(GBS) and the misdiagnosis and mismanagement in emergency department.Methods According to the diagnosis criteria of Chinese Journal of Neurology and Psychology,145 GBS in-hospital patients in our hospital from January 1,1994 to December 312004 were studied to find characteristics of GBS and auxiliary examinations.The reasons for GBS misdiagnosis and mismanagement were analysis.Results Most of the patients were young,the ratio of male to female was 2.5 to 1.Among them,mild-type was 34.5%,medium-type was 25.5%,severe-type was 13.9%,very severe-type was 7.6%,relapse-type was 4.1%,chronic-type was 12.4% and variation-type was 2.1%.The initial symptoms were multiplie.Bilateral limbs weakness and/or numbess were the most common symptom,and non-specificity asymmetrical weakness and/or numbess,headache,ophthalmalgia,distortion of angle of mouth or weak mastication were uncommon symptoms.Twenty-three patients(15.9%)were misdiagnosed in emergency department.71.3% patients developed albuminocytolgoic dissociation in cerebrospinal fluid.The content of protein in cerebrospinal fluid was correlated to the course of disease and uncorrelated to the patitent's condition.Conclusion GBS was a common cause of clinical acute flaccid paralysis,the mild-type has good prognosis and the mortality of very serere-type is high.GBS should be paid attention to in emergency department.