Enfermedad de Huntington. Fenómeno de anticipación génica: importancia de la cuantificación del número de repeticiones CAG

La Enfermedad de Huntington es la patología neurodegenerativa que afecta tanto a los varones como a las mujeres entre 30 - 50 años, con una prevalencia de 10 casos por cada 100.000 habitantes. Las formas juvenil y tardía representan un 10 y 16% respectivamente. La enfermedad de Huntington cursa con manifestaciones psiquiátricas, motrices y cognitivas. Alrededor del 30% de los pacientes debutan con alteraciones conductuales, representado su manejo una de las mayores dificultades tanto para el paciente como para su familia o cuidadores. Las alteraciones motoras o corea aparecen posteriormente y definen el rasgo más característico de esta enfermedad. En este trabajo realizamos una revisión de la enfermedad de Huntington: sus manifestaciones clínicas, herencia genética y métodos diagnósticos; exponemos un caso de inicio juvenil, cuyas características siguen el patrón habitual de la Corea de Huntington, pasando por todas las etapas típicas de regresión tanto mental como motora

A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient

Introduction: Additional nucleotide substitutions in the 3´-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient. Case and methods: The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after immobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be determined using the PTH-FV-MTHFR StripAssay (Vienna Lab). Results: Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip. Conclusion: The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the patient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events

Magnesium concentration in amniotic fluid in the early weeks of the second trimester of pregnancy

<p>Abstract</p> <p>Background</p> <p>We analyse magnesium levels in amniotic fluid to establish normal values for the 14^thto 18^thweek of pregnancy and establish critical values that could be useful diagnostic and therapeutic guidelines for possible complications.</p> <p>Findings</p> <p>Ninety-two samples of amniotic fluid obtained by amniocentesis as well as the corresponding serum samples of pregnant women were analysed. The gestational age (mean ± SD) at which the amniotic fluid sample was obtained was 16.13 ± 1.87 weeks. Magnesium levels were determined by colorimetric assay with chlorophosphonazo-III using the the Cobas c 501 analyser (Roche Diagnostics). Statistical treatment of data was performed using the SPSS program, version 15.0.</p> <p>Results revealed a mean magnesium value of 1.65 ± 0.16 mg/dL in amniotic fluid and 1.97 ± 0.23 mg/dL in serum.</p> <p>Conclusions</p> <p>It would be interesting to extend the study to a larger number of pregnant women to determine variations in normal magnesium values in the three trimesters of pregnancy.</p

Aprendizagem organizacional: uma delimitação conceitual para sua medição

Organizational learning (OL) has been studied as a capability or process for improving organizations’ performance. However, this field of study is characterized by heterogeneous or unspecified positions and definitions from which various measurement models are built. This paper aims to propose an OL conceptualization from a multidimensional perspective that brings together insights and elements from the different definitions and point out its methodological implications for measuring the phenomenon. For this, literature is reviewed systematically in the Scopus and Google Scholar databases. The 36 selected articles are examined in depth in an iterative reading, coding, and comparative analysis process. Eight central elements are extracted, described, and assembled in a proposed definition of OL. Finally, the ontological and epistemological position that supports the proposed conceptualization is discussed, pointing out its methodological implications for OL measurement. The main contribution is the development of a multidimensional definition of OL with an ontological and epistemological view for its measurement. Thus, it seeks to overcome reductionist definitions and recognize its complexity.El aprendizaje organizacional (AO) ha sido estudiado como una capacidad o proceso que permite mejorar la performance de las organizaciones. Sin embargo, el campo de estudio del AO se caracteriza por contar con posturas y definiciones heterogéneas o no explicitadas, a partir de las cuales se construyen diversos modelos de medición. El objetivo de este trabajo es proponer una conceptualización del fenómeno del AO desde una perspectiva multidimensional que articule aportes y elementos de las distintas definiciones, y señalar sus implicancias metodológicas para la medición del fenómeno. Para cumplir con ese objetivo, se realiza una revisión sistemática de la literatura en las bases de datos Scopus y Google Scholar. Los 36 artículos seleccionados se analizan en profundidad en un proceso iterativo de lectura, codificación y análisis comparativo. De lo anterior se extraen ocho elementos centrales, descritos y articulados en una propuesta de definición de AO. Finalmente, se discute la postura ontológica y epistemológica que sustenta la conceptualización del fenómeno propuesta y se señalan las implicancias en términos metodológicos para la medición del AO. La principal contribución de este artículo es el desarrollo de una definición multidimensional de AO con una mirada ontológica y epistemológica del fenómeno, con vistas a su medición. De esta manera se busca superar definiciones reduccionistas, y reconocer su complejidad.A aprendizagem organizacional (AO) vem sendo estudada como uma capacidade ou processo que permite melhorar a performance das organizações. Contudo, o campo de estudo da AO é caracterizado por contar com posicionamentos e definições heterogêneos ou não explícitos, a partir dos quais são construídos diversos modelos de medição. O objetivo deste trabalho é propor uma conceituação do fenômeno da AO sob uma perspectiva multidimensional que articule contribuições e elementos das diferentes definições, e indicar suas implicâncias metodológicas para avaliar o fenômeno. Para atingir esse objetivo, é realizada uma revisão sistemática da literatura nas bases de dados da Scopus e do Google Scholar. Os 36 artigos selecionados são analisados em profundidade em um processo iterativo de leitura, codificação e análise comparativa. A partir disso, são extraídos oito elementos centrais, descritos e articulados em uma proposta de definição de AO. Por último, é discutido o posicionamento ontológico e epistemológico que subsidia a conceituação do fenômeno proposta e são apresentadas as implicâncias em termos metodológicos para avaliar a AO. A principal contribuição deste artigo é o desenvolvimento de uma definição multidimensional da AO com um olhar ontológico e epistemológico do fenômeno, com vistas à sua medição. Dessa maneira, pretende-se superar definições reducionistas e reconhecer sua complexidade

Demarcación conceptual del Aprendizaje Organizacional: Implicaciones para su medición

Al momento de evaluar la innovación y la performance organizacional, el Aprendizaje Organizacional (AO) se presenta como un aspecto a evaluar. En este contexto, delimitar las fronteras de estos conceptos resulta precondición para su medición. Este trabajo se propone conceptualizar el fenómeno del AO desde una perspectiva multidimensional. Se realiza una revisión sistemática de la literatura en las bases de datos Scopus y Google Scholar. Los 36 artículos resultantes se analizan en profundidad en un proceso iterativo de lectura, codificación y análisis comparativo. De lo anterior emergen 8 elementos centrales, descriptos y articulados en la definición del AO propuesta, la cual representa una postura ontológica y epistemológica para el abordaje del fenómeno. Se señalan además sus implicancias en términos metodológicos para la medición del AO.Fil: Camio, María Isabel. Universidad Nacional del Centro de la Provincia de Buenos Aires. Facultad de Ciencias Económicas. Centro de Estudios en Administración; ArgentinaFil: Izquierdo, Silvia Irene. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil; Argentina. Universidad Nacional del Centro de la Provincia de Buenos Aires. Facultad de Ciencias Económicas. Centro de Estudios en Administración; ArgentinaFil: Álvarez, María Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil; Argentina. Universidad Nacional del Centro de la Provincia de Buenos Aires. Facultad de Ciencias Económicas. Centro de Estudios en Administración; ArgentinaFil: Diaz Bilotto, Constanza María. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaXVIII Congreso Latino-Iberoamericano de Gestión TecnológicaMedellínColombiaAsociación Latino-Iberoamericana de Gestión Tecnológica y de la Innovació

Aprendizaje organizacional

El aprendizaje organizacional (AO) ha sido estudiado como una capacidad o proceso que permite mejorar la performance de las organizaciones. Sin embargo, el campo de estudio del AO se caracteriza por contar con posturas y definiciones heterogéneas o no explicitadas, a partir de las cuales se construyen diversos modelos de medición. El objetivo de este trabajo es proponer una conceptualización del fenómeno del AO desde una perspectiva multidimensional que articule aportes y elementos de las distintas definiciones, y señalar sus implicancias metodológicas para la medición del fenómeno. Para cumplir con ese objetivo, se realiza una revisión sistemática de la literatura en las bases de datos Scopus y Google Scholar. Los 36 artículos seleccionados se analizan en profundidad en un proceso iterativo de lectura, codificación y análisis comparativo. De lo anterior se extraen ocho elementos centrales, descritos y articulados en una propuesta de definición de AO. Finalmente, se discute la postura ontológica y epistemológica que sustenta la conceptualización del fenómeno propuesta y se señalan las implicancias en términos metodológicos para la medición del AO. La principal contribución de este artículo es el desarrollo de una definición multidimensional de AO con una mirada ontológica y epistemológica del fenómeno, con vistas a su medición. De esta manera se busca superar definiciones reduccionistas, y reconocer su complejidad

Thyroid hormones according to gestational age in pregnant Spanish women

<p>Abstract</p> <p>Background</p> <p>Thyroid function changes during pregnancy and maternal thyroid dysfunction have been associated with adverse outcomes. Our aim was to evaluate thyroid hormones levels in pregnant women resident in Aragon, Spain.</p> <p>Findings</p> <p>Samples for 1198 pregnant women with no apparent thyroid disorders were analyzed, using paramagnetic microparticle and chemiluminescent detection technologies, in order to determine levels of thyroid stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4), thyroid peroxidase antibodies (TPO-Ab), and thyroglobulin antibodies (Tg-Ab). Of the women in our sample, 85.22% had normal values for TPO-Ab and Tg-Ab and 14.77% had results revealing the presence of autoimmune diseases of the thyroid. The thyroid hormone reference values obtained according to gestational age (in brackets) were as follows: for free T3, values were 3.38 ± 0.52 pg/mL (<11 weeks), 3.45 ± 0.54 pg/mL (11-20 weeks), 3.32 ± 0.43 pg/mL (21-30 weeks), 3.21 ± 0.53 pg/mL (31-36 weeks), and 3.23 ± 0.41 pg/mL (>36 weeks); for free T4, values were 1.10 ± 0.14 ng/dL (<10 weeks), 1.04 ± 0.14 ng/dL (11-20 weeks), 0.93 ± 0.12 ng/dL (21-30 weeks), 0.90 ± 0.13 ng/dL (31-36 weeks), and 0.80 ± 0.21 ng/dL (>36 weeks); and for TSH, values were (μIU/mL): 1.12 ± 0.69 (<10 weeks), 1.05 ± 0.67 (11-20 weeks), 1.19 ± 0.60 (21-30 weeks), 1.38 ± 0.76 (31-36 weeks), and 1.46 ± 0.72 (>36 weeks).</p> <p>Conclusion</p> <p>Pregnant women with normal antibody values according to gestational age had values for FT4 and TSH, but not for FT3, that differed to a statistically significant degree. The values we describe can be used as reference values for the Aragon region of Spain.</p

Development a pressure diference anchor system in a ROV

Peer Reviewe

A DNA damage repair gene-associated signature predicts responses of patients with advanced soft-tissue sarcoma to treatment with trabectedin

Predictive biomarkers of trabectedin represent an unmet need in advanced soft-tissue sarcomas (STS). DNA damage repair (DDR) genes, involved in homologous recombination or nucleotide excision repair, had been previously described as biomarkers of trabectedin resistance or sensitivity, respectively. The majority of these studies only focused on specific factors (ERCC1, ERCC5, and BRCA1) and did not evaluate several other DDR-related genes that could have a relevant role for trabectedin efficacy. In this retrospective translational study, 118 genes involved in DDR were evaluated to determine, by transcriptomics, a predictive gene signature of trabectedin efficacy. A six-gene predictive signature of trabectedin efficacy was built in a series of 139 tumor samples from patients with advanced STS. Patients in the high-risk gene signature group showed a significantly worse progression-free survival compared with patients in the low-risk group (2.1 vs 6.0 months, respectively). Differential gene expression analysis defined new potential predictive biomarkers of trabectedin sensitivity (PARP3 and CCNH) or resistance (DNAJB11 and PARP1). Our study identified a new gene signature that significantly predicts patients with higher probability to respond to treatment with trabectedin. Targeting some genes of this signature emerges as a potential strategy to enhance trabectedin efficacy.This study was funded by the Spanish Group for Research on Sarcoma (GEIS) and partially by PharmaMar. The authors would like to thank the GEIS data center for data management. The authors also thank the donors and the Hospital Universitario Virgen del Rocío—Instituto de Biomedicina de Sevilla Biobank (Andalusian Public Health System Biobank and ISCIII-Red de Biobancos PT17/0015/0041) for part of the human specimens used in this study. David S. Moura is recipient of a Sara Borrell postdoctoral fellowship funded by the National Institute of Health Carlos III (ISCIII) (CD20/00155)