Authentication of fish oil (omega-3) supplements using class-oriented chemometrics and comprehensive two-dimensional gas chromatography coupled to mass spectrometry.

Food supplement authentication is an important concern worldwide due to the ascending consumption related to health benefits and its lack of effective regulation in underdeveloped countries, making it a target of fraudulent activities. In this context, this study evaluated fish oil supplements by comprehensive two-dimensional gas chromatography coupled to mass spectrometry (GC×GC-MS) to obtain fingerprints, which were used to build predictive models for automated authentication of the most popular products sold in Brazil. The authentication process relied on a one-class classifier model using data-driven soft independent modeling of class analogy (DD-SIMCA). The output of the model was a binary classifier: certified IFOS fish oils and non-certified ones - regardless of the source of adulteration. The compositional analysis showed a significant variation in the samples, which validated the need for reliable statistical models. The DD-SIMCA algorithm is still incipient in GC×GC studies, but it proved to be an excellent tool for authenticity purposes, achieving a chemometric model with a sensitivity of 100%, specificity of 98.6%, and accuracy of 99.0% for fish oil authentication. Finally, orthogonalized partial least square discriminant analysis (OPLS-DA) was used to identify the features that distinguished the groups, which ascertained the results of the DD-SIMCA model that IFOS-certified oils are positively correlated to omega-3 fatty acids, including eicosapentaenoic acid (EPA, C20:5 n-3) and docosahexaenoic acid (DHA, C22:6 n-3).

Advanced tuning of the ion management parameters in GC × GC-HRMS using a Fourier transform Orbitrap mass analyzer for pixel-based data handling and multivariate analysis.

GC × GC investigations are well known to generate a substantial amount of information-rich and structurally complex data, requiring advanced data processing strategies like chemometrics. Many workflows are available for data handling and processing, such as the peak-table and pixel-based approaches. The goal of this work is to present a solution based on method development to solve the missing pixel problem that may be encountered in experiments performed with GC and GC × GC coupled to the Fourier transform orbital ion trap (FT-Orbitrap) mass analyzer. Data input is vital for pixel-based chemometric analyses, as some post-processing solutions may lead to significant loss of chemical information in the data set. Hence, a key requisite is that the chemical information is consistently indexed in the data arrays for proper pixel-based data handling and analysis. In this study, we carefully evaluated the ion management parameters to preserve the intrinsic structure and information of the data arrays of the GC × GC-FT-Orbitrap for future pixel-oriented chemometric analysis. The most acceptable conditions yielded acquisition rates up to 42.6 spectra per s, while a routine setting of 24.7 Hz was successfully employed in analyses of different petroleum fractions, producing both consistent tensor sizes and acceptable peak reconstructions. A data acquisition rate of 24.7 spectra per s and a mass resolving power of 15 000 allowed the resolution of a mass split of only 0.004 Da - which is an interesting configuration for challenging applications in petroleomics. Using such advanced settings, the missing pixel problem was reduced from up to 30% to much less than 0.04% of the data array dimension. Thus, the proposed configuration can be employed in studies that require pixel-oriented multivariate data analysis.

Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing.

Leigh syndrome represents a complex inherited neurometabolic and neurodegenerative disorder associated with different clinical, genetic and neuroimaging findings in the context of bilateral symmetrical lesions involving the brainstem and basal ganglia. Heterogeneous neurological manifestations such as spasticity, cerebellar ataxia, dystonia, choreoathetosis and parkinsonism are associated with multisystemic and ophthalmological abnormalities due to >75 different monogenic causes. Here, we describe the clinical and genetic features of a Brazilian cohort of patients with Leigh Syndrome in which muscle biopsy analysis showed mitochondrial DNA defects and determine the utility of whole exome sequencing for a final genetic diagnostic in this cohort.

Leukodystrophy with disorders of sex development due to WT1 mutations.

BACKGROUND: Hypomyelinating leukodystrophies represent an expanding group of neurogenetic disorders characterized primarily by central nervous system hypomyelination and variable neurological and non-neurological involvement. Hypomyelinating disorders have been rarely associated with gonadal dysfunction, being mainly represented by hypogonadotrophic hypogonadism in 4H syndrome. WT1 gene-associated disorders are classically associated with complex phenotypes including early carcinogenic risk for gonadoblastoma and Wilms' tumor, chronic renal failure, nephrotic syndrome and sex developmental disorders in intersex disorders and ambiguous genitalia. METHODS: The authors describe three non-related Brazilian patients with hypomyelinating leukodystrophy associated with complex neurological and systemic dysfunction with WT1 gene mutations. RESULTS: All described patients presented with similar neuroimaging features including thin corpus callosum, mild to moderate cerebellar atrophy and diffuse periventricular and profound hypomyelinating leukodystrophy involving supratentorial white matter with classical compromise linked to inherited non-somatic WT1 gene mutations in a similar pattern to Denys-Drash syndrome, including nephrotic syndrome with different glomerular disease, chronic renal failure, intersex disorder with ambiguous genitalia, and early occurrence of specific tumors, such as Wilms' tumor and gonadoblastoma. CONCLUSIONS: Clinicians must include WT1 gene mutations in the differential diagnosis of hypomyelinating leukodystrophy with nephrotic syndrome, chronic renal failure, ambiguous genitalia or sex developmental disorders.

Toracotomias: estudo epidemiológico em um hospital de grande porte / Thoracotomies: epidemiologic study in a large general hospital / Toracotomías: estudio epidemiológico en un hospital de gran porte

Objetivo: descrever as causas mais frequentes para a realização de toracotomias e traçar o perfil epidemiológico dos indivíduos submetidos a este procedimento. Método: estudo retrospectivo com abordagem quantitativa através de análise de prontuários médicos em um hospital de grande porte da região Centro-Oeste do Paraná no período entre junho/2005 e junho/2006. O trabalho foi aprovado pelo Comitê de Ética em Pesquisa da Universidade Estadual do Centro-Oeste, sob registro n.019/2006. Resultados: foram estudados 50 casos, destes, 56% constituem-se de homens; a faixa etária onde se concentraram o maior número de casos foi entre 40 e 49 anos (22%), com idade média de 42,5 anos. A maioria dos casos analisados (50%) correspondeu a toracotomias com drenagem fechada; 42% foram toracotomizados por apresentarem empiema pleural e 22% por apresentarem derrame pleural. Conclusão: indivíduos do sexo masculino na faixa etária de até 49 anos de idade predominaram entre os pacientes toracotomizados da amostra do estudo, todos procedentes da região estudada. As toracotomias laterais foram as principais incisões torácicas realizadas em indicação ao tratamento de derrames e empiemas pleurais.(AU)

Objective: to describe the most frequent causes for realization of thoracotomies and the epidemiological profile of individuals submitted of its. Method: this is about a retrospective study from quantitative approach conducted by medical records of a large general hospital of region Center-Western of Paraná (PR) were analysed in from June 2005 to july 2006. The study has been approved by the Research Ethics Committee of the Universidade Estadual do Centro-Oeste in Paraná (BR), in accordance to registration number 019/2006. Results: it were studied 50 cases, 56% were men; the age-group where the most number of cases were concentred was between 40 and 49 years old (22%), the average age was 42,5 years. Most of the case studied (50%) was closed thoracotomy drainage; 42% was thoracotomized for exhibit pleural empyema and 22% for exhibit pleural effusion. Conclusion: males aged up to 49 years old predominated among the thoracotomized patients in the study sample. The lateral thoracotomies were the main thoracic incisions made for treatment of pleural effusions and empyemas.(AU)

Objetivo: describir las causas más frecuentes para la realización de toracotomías y trazar el perfil epidemiológico de los individuos sometidos a esto procedimiento. Método: estudio retrospectivo con abordaje cuantitativa a través de análisis de archivos médicos en un hospital de gran porte de la región Centro-Oeste del Paraná en el período entre junio/2005 y junio/2006. El estudio fue aprobado por el Comité de Etica en Investigación de la Universidad Estadual del Centro-Oeste, sob protocolo n. 019/2006. Resultados: fueron estudiados 50 casos, de estos, 56% se constituyen de hombres; la faja etaria donde se concentraron el mayor número de casos fue entre 40 y 49 años (22%) con edad media de 42,5 años. La mayoría de los casos estudiados (50%) correspondió a toracotomías con drenaje cerrada; 42% fueron toracotomizados por presentaren empiema pleural y 22% por presentaren derrame pleural. Conclusión: hombres en la faja etaria hasta 49 años predominarán entre los toracotomizados en la amostrad del estudio, todos procedentes de la región estudiada. Las toracotomías laterales fueran las principales incisiones torácicas realizadas en indicación al tratamiento de derrames y empiemas pleurales.(AU)

Conhecimento sobre aleitamento materno de puérperas atendidas no ambulatório da criança no município de Cáceres, Mato Grosso, Brasil / Knowledge over mother`s breastfeeding attended by the children clinic in the city of Cáceres, Mato Grosso, Brazil / Conocimiento sobre lactancia materna de madres asistidas en el ambulatorio infantil en Cáceres, Mato Grosso, Brasil

Objetivos: caracterizar a população estudada quanto aos fatores sócio-demográficos e descrever o conhecimento de puérperas sobre aleitamento materno. Método: estudo transversal, prospectivo e descritivo com vinte e seis puérperas atendidas no Ambulatório da Criança em Cáceres/MT onde se aplicou um formulário de entrevista semi-estruturada contendo dados de caracterização sócio-demográfica e questões sobre aleitamento materno; o trabalho foi aprovado pelo Comitê de Ética em Pesquisa da Universidade de Cuiabá, sob registro n.126/2009. Para análise dos resultados descreveu-se as variáveis categóricas e variáveis sobre conhecimento das mães usando-se taxas, proporções e números brutos. Resultados: 56% tinham mais de 24 anos, 46% tinham apenas ensino fundamental, 73% eram donas de casa, 46% eram primigestas e entre as multíparas a quase totalidade amamentou filhos anteriores por um período igual ou superior a seis meses. Todas deram respostas satisfatórias sobre o período ideal e benefícios do aleitamento materno. Conclusão: concluiu-se que estas mães têm um nível adequado de conhecimento sobre os benefícios que o aleitamento materno tem sobre o desenvolvimento e crescimento saudáveis das crianças e para a saúde da mãe, mesmo estas sendo jovens e primigestas; a baixa escolaridade das puérperas, isoladamente, não pode ser associada com falhas na amamentação. Não foi possível associar o nível de conhecimento com falhas na amamentação. Houve falhas durante o pré-natal em relação à abordagem da temática por profissionais de saúde.(AU)

Objectives: to characterize the studied population about the social demographics factors and verify the mother`s knowledge on breastfeeding. Method: this is about a transversal, prospective and descriptive study with mother`s attended by the Children Clinic in Cáceres/MT where a semi-structured interview questionnaire was applied containing dada of social demographic characterization and questions over breastfeeding; the work was approved by the Research Ethics Committee of Cuiaba University, under the registration number 126/2009. To analyze the results the categorical variables and the variables on the mother`s knowledge were described using taxes, proportion and raw numbers. Results: 56% were over 24 years old, 46% had only basic education, 73% were housewives, 46% were primigravidae and among the multigravidae almost all of them had breastfed earlier children for a period equal or superior to six months. All of them gave satisfactory answers about the ideal period and benefits of breastfeeding. Conclusion: it is concluded that the mothers had an adequate knowledge over the benefits that breastfeeding has over the development and growth of health children and for the mother`s health, even though they are young and primigravidae; low schooling of the mothers, isolated, it can`t be associated to the breastfeeding flaws. It was not possible to associate the level of knowledge with breastfeeding flaws. There were flaws during the prenatal relating to the thematic approach by health professionals. (AU)

Objetivos: caracterizar la población en estudio cuanto a factores sociodemográficos y describir el conocimiento de las madres sobre lactancia materna. Método: estudio transversal, prospectivo y descriptivo con veintiséis madres asistidas en el Ambulatorio Infantil en Cáceres - Brasil dónde se aplicó un cuestionario de entrevista semiestructurada conteniendo informaciones de caracterización sociodemográfica y cuestiones sobre lactancia materna; el estudio fue aprobado por el Comité de Ética en Investigación de la Universidad de Cuiabá, sob protocolo n. 126/2009. Para análisis de los resultados se describió las variables categóricas y variables acerca del conocimiento de madres utilizando tasas, proporciones y números brutos. Resultados: 56% tenían más de 24 años, 46% con escuela primaria, 73% eran donas de casa, 46% eran primigestas y entre las mujeres con hijos anteriores casi todas practicaran la lactancia materna por seis meses o más. Todas respondieron satisfactoriamente sobre el tiempo ideal y ventajas de la lactancia materna. Conclusión: se puede concluir que las madres tienen un bueno nivel de conocimiento de las ventajas que la lactancia materna tiene acerca del desarrollo y crecimiento saludables de los infantes y para la salud de las madres, mismo estas siendo jóvenes y primigestas; la baja escolaridad de las madres, individualmente, no pude estar asociada con errores en la lactancia. No fue posible asociar el nivel de conocimiento con errores en la lactancia. Hube errores en el prenatal en relación a abordaje del tema por profesionales de salud.(AU)