Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease.

INTRODUCTION: Huntington disease (HD) is a hereditary neurodegenerative disorder. Thanks to predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. OBJECTIVE: To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset). METHOD: A sample of 146 participants in a predictive diagnosis of HD programme were divided into the HDC (41.1%) and non-HDC groups (58.9%). Mathematical formulae were used to calculate disease burden and proximity to the manifest stage in the HDC group; these parameters were correlated with neuropsychological performance. RESULTS: Significant differences were observed between groups in performance on the Mini-Mental State Examination (MMSE), Stroop-B, Symbol-Digit Modalities Test (SDMT), and phonological fluency. In the HDC group, correlations were observed between disease burden and performance on the MMSE, Stroop-B, and SDMT. The group of patients close to the manifest stage scored lowest on the MMSE, Stroop-B, Stroop-C, SDMT, and semantic verbal fluency. According to the multivariate analysis of covariance, the MMSE effect shows statistically significant differences in disease burden and proximity to onset of symptoms. CONCLUSIONS: Members of the HDC group close to the manifest phase performed more poorly on tests assessing information processing speed and attention. Prefrontal cognitive dysfunction appears early, several years before the motor diagnosis of HD.

Psychological discomfort in carriers and non-carriers of the Huntington disease mutation and its relationship with disease burden.

INTRODUCTION: Huntington's disease (HD) is a neurodegenerative and hereditary disorder. Due to the predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. Several studies have reported an increase in psychiatric symptoms in carriers of the HD gene without motor symptoms. OBJECTIVE: To identify psychological distress in carriers of the mutation that causes HD, without motor symptoms, utilizing the Symptom Checklist 90 (SCL-90), and to correlate with the burden and proximity of the disease. METHOD: A sample of 175 participants in a HD Predictive Diagnostic Program (PDP-HD) was divided into HEP carriers (39.4%) and NPEH non-carriers (61.6%) of the HD-causing mutation. By means of mathematical formulas, the disease burden and proximity to the manifest stage in the PEH group were obtained and it was correlated with the results of the SCL-90-R. RESULTS: Comparing the results obtained in the SCL-90-R of the PEH and NPEH, the difference is observed in the positive somatic male index, where the PEH obtains higher average scores. The correlations between disease burden and psychological distress occur in the domains; obsessions and compulsions, interpersonal sensitivity, hostility, global severity index and positive somatic distress index. A low correlation is observed between the burden of disease and the scores obtained in psychological discomfort. CONCLUSIONS: In general, we found that the PEH group obtained a higher score in the dimensions evaluated with the SCL-90-R, showing a relationship with the burden and differences due to the proximity of the disease. Higher scores on the SCL-90-R dimensions in carriers of the HD gene may suggest an early finding of psychological symptoms in the disease.

Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease. / Ejecución neuropsicológica y carga de enfermedad en sujetos en riesgo de desarrollar enfermedad de Huntington.

INTRODUCTION: Huntington disease (HD) is a hereditary neurodegenerative disorder. Thanks to predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. OBJECTIVE: To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset). METHOD: A sample of 146 participants in a predictive diagnosis of HD programme were divided into the HDC (41.1%) and non-HDC groups (58.9%). Mathematical formulae were used to calculate disease burden and proximity to the manifest stage in the HDC group; these parameters were correlated with neuropsychological performance. RESULTS: Significant differences were observed between groups in performance on the Mini-Mental State Examination (MMSE), Stroop-B, Symbol-Digit Modalities Test (SDMT), and phonological fluency. In the HDC group, correlations were observed between disease burden and performance on the MMSE, Stroop-B, and SDMT. The group of patients close to the manifest stage scored lowest on the MMSE, Stroop-B, Stroop-C, SDMT, and semantic verbal fluency. According to the multivariate analysis of covariance, the MMSE effect shows statistically significant differences in disease burden and proximity to onset of symptoms. CONCLUSIONS: Members of the HDC group close to the manifest phase performed more poorly on tests assessing information processing speed and attention. Prefrontal cognitive dysfunction appears early, several years before the motor diagnosis of HD.

Haematological alterations in the cardiac patient after use of an autotransfusion system. / Alteraciones hematológicas en el paciente cardíaco tras uso de un sistema de autotransfusión.

OBJECTIVE: There are studies that declare blood recovered with the autotransfusion system that is potentially heparinised and mixed with other drugs, can cause haematological alterations in the patient, according to existing evidence. The proposal was to compare the haematological values of the patients before reinfusing red blood cells from the cell saver and 12h after reinfusion. MATERIAL AND METHODS: Observational analytical study of 479 patients who underwent cardiac surgery where the cell saver was used. Haematological variables were collected before reinfusion and 12h after reinfusion. RESULTS: Statistically significant haematological values before reinfusion and 12h after reinfusion were: haemoglobin (9.5 to 12.5g/dL), haematocrit (26 to 38%), platelets (214.2 to 164.210^3/µL), total proteins (7.6 to 5.1g/dL), PCR (8.5 to 22.1mg/L) and D-dimer (493.3 to 875.5µg/L) with P<.05. CONCLUSIONS: With the use of the cell saver an increase was observed of haemoglobin, haematocrit, PCR and D-dimer values together with a decrease in platelet and total protein numbers.

Contenidos en el área de salud y competencias específicas en el ciclo de nivelación de la Facultad de Ciencias Médicas / Contents in the health section and specific competences in the leveling course in the School of Medicine / Conteúdos na área de saúde e habilidades específicas no ciclo de nivelamento da Faculdade de Ciências Médicas

Las instituciones universitarias para lograr excelencia académica en los futuros profesionales exigen considerar a la educación con un signifi cado primordial. El presente trabajo identifi ca los contenidos en el área de salud en los materiales de ejercitación del Ciclo de Nivelación y las competencias específi cas en los diferentes Ejes Temáticos, desde la perspectiva de los profesores. Para identifi car los contenidos del área de salud se aplicó un instrumento con los ítems: objetivos, contenidos, actividades y bibliografía. Para indagar la perspectiva de los profesores se implementó un cuestionario a ocho informantes claves, que incluyó la valoración de las competencias específi cas en el área a su cargo. De acuerdo a lo trabajado, se reconoce la importancia de articulación entre educación y salud, en términos de vincular experiencia-formación de los docentes, conocimientos de los estudiantes y contenidos específi cos en relación al proceso salud-enfermedad, porque se transforma en retroalimentación para los Ciclos de Nivelación.

In order to achieve academic excellence in their future professionals, university institutions require the consideration of education with a fundamental meaning. This work identifi es the contents in the health section of the exercise material included in the Leveling Course and the specifi c competences in the different Main Topics, from the teachers´perspective. An instrument including the following items: objectives, contents, activities and biography was applied to identify the contents in the health section. To inquire about the teachers’ perspective a questionnaire was used with eight key informants; it included the assessment of specifi c competences in the area they are in charge of. As a conclusion, it is observed that it is important to articulate education and health, in terms of linking teachers’ experience-training, students’ knowledge and specifi c contents regarding the process health-illness, since it becomes feedback for the Leveling Courses.

As instituições universitárias, visando a excelência acadêmica nos futuros profi ssionais, exigem considerar a educação como tendo um signifi cado fundamental. Este documento identifi ca os conteúdos na área da saúde dos materiais de treinamento do Ciclo de Nivelamento e as competências específi cas nos diferentes Eixos Temáticos a partir da perspectiva dos professores. Para identifi car os conteúdos da área de saúde aplicou-se um instrumento composto dos itens: objetivos, conteúdos, atividades e bibliografi a. Para pesquisar a perspectiva dos professores aplicou-se um questionário a oito docentes-chave, que incluiu a avaliação de competências específi cas na área da sua responsabilidade.. De acordo com o trabalho, pode-se reconhecer a importância da articulação entre educação e saúde, em termos de articular a experiência-formação dos professores, os conhecimentos dos estudantes e os conteúdos específi cos em relação ao processo saúde-doença, pois ele torna-se em retroalimentacão para os Ciclos de Nivelamento.

Verbal fluency tests: Normative data for the Latin American Spanish speaking adult population.

OBJECTIVE: To generate normative data for the Verbal Fluency Tests across 11 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate. METHOD: The sample consisted of 3,977 healthy adults who were recruited from Argentina, Bolivia, Chile, Cuba, El Salvador, Guatemala, Honduras, Mexico, Paraguay, Peru, and, Puerto Rico. Each subject was administered the Verbal Fluency Test as part of a larger neuropsychological battery. A standardized five-step statistical procedure was used to generate the norms. RESULTS: The final multiple linear regression models for the letter F explained 8-30% of the variance, 7-32% for letter A, 8-32% for the letter S, and 16-43% for the animal category in Verbal Fluency Test scores. Although t-tests showed significant differences between men and women on the Verbal Fluency Test, they did not have an effect size larger than 0.3. As a result, gender-adjusted norms were not generated. CONCLUSIONS: This is the first normative multicenter study conducted in Latin America aiming to create norms for the Verbal Fluency Test; this study will have important outcomes for the future of neuropsychology in the region.

Semantic verbal fluency in elderly Mexican adults: Reference values.

INTRODUCTION: The semantic verbal fluency test (SVF) is sensitive to detecting cognitive decline. It is fast and easy to use in any cultural context; therefore, it is included in most of the neuropsychological assessment protocols. OBJECTIVE: To estimate normative values for the SVF test (animals), in an elderly population aged 65 years and over. MATERIAL AND METHOD: 1233 subjects who were healthy, cognitively preserved, residents of two areas (rural and urban) of Mexico were assessed. A neurological and neuropsychological exploration battery was applied, including SVF. RESULTS: The age average was 73+6 and schooling was 4.0+3.9 years, with 59% women. The average of the words generated in the SVF test was 14+5, and a correlation of 0.16 of these scores with age, education, and gender was found (p<.001), this allowed the estimation of the percentiles in accordance with these variables. CONCLUSIONS: The most important contribution provided by this study was that the data analysis enabled normative values to be obtained for an elderly Mexican population aged 65 years and over. It was also confirmed, as other neuropsychological assessment studies have done, that the SVF test is influenced by socio-demographic variables, such as age and education, aspects to be considered at the time of obtaining normative values. Finally, it was noted that the average scores obtained were lower than other published reference values, due to the low educational level of our sample.

Recall strategies for the verbal fluency test in patients with multiple sclerosis.

UNLABELLED: Multiple sclerosis (MS) is a neurodegenerative disease characterised by inflammation and demyelination. It generates irreversible myelin changes, which in turn give rise to physical and cognitive disorders. The verbal fluency test (VF) has been shown to be a sensitive tool for detecting cognitive impairment in these patients. OBJECTIVE: To compare quantitative and qualitative aspects of performance on semantic and phonological fluency tests between MS patients and healthy controls by analysing total words produced and strategies used (clusters and switching). METHOD: We evaluated 46 patients with MS and 33 healthy controls using the VF test. RESULTS: The semantic VF task revealed no significant differences between groups; for the phonological task, patients demonstrated reduced word production (F [77]=2.286 P<.001) and poorer use of grouping strategies, resulting in more frequent switching (F [77]=3.808 P<.005). CONCLUSIONS: These results support using qualitative analysis for recall strategies, since the technique provides data about which components of the task are affected by brain damage. Clusters depend on the integrity of semantic memory, while switching has to do with developing effective search strategies, cognitive flexibility, and the ability to modify responses. Frontal lobe damage has been reported in MS, and this is consistent with results from the phonological VF test.

Intimidación en colegios estatales de secundaria del Perú / Bullying in secondary national schools of Perú

Objetivo: conocer la frecuencia de intimidación en colegios nacionales de las tres regiones del Perú donde ha existido violencia política y determinar los factores de riesgo asociados.Métodos: estudio transversal, analítico, acerca de la intimidación en cinco departamentos del país: Ayacucho (Huamanga), Cusco (Sicuani), Junín (Satipo), Huancavelica y Lima (Ñaña). Después de determinar el tamaño de muestra de los estudiantes y efectuar la selección aleatoria de los salones de clase se empleó un cuestionario previamente validado para efectuar una encuesta en 1633 estudiantes. Estadísticamente se buscaron porcentajes, asociación de variables con intimidación, regresión logistica y se construyó una curva R.O.C.Resultados: la incidencia de intimidación tuvo un promedio de 50.7 por ciento. Las variables asociadas significativamente con intimidación en la regresión logistica fueron apodos, golpes, falta de comunicación, llamar homosexual, defectos físicos, necesidad de trabajar, necesidad de atención médica, acoso, escupir, obligar a hacer cosas que no se quiere, discriminación e insulto por correo electrónico.Conclusiones: la intimidación tiene origen multicausal, ocasiona problemas en la salud, fobia escolar, y el pronóstico a largo plazo para víctimas y agresores es negativo, pudiendo verse envueltos en problemas con la ley.

Objective: To know the frequency of bullying in national schools in the three peruvian regions where has existed political violence, and determine the associated risk factors. Methods: cross section study, analytic, about bullying in national schools of five departments Ayacucho (Huamanga), Cusco (Sicuani), Junín (Satipo), Huancavelica and Lima (Ñaña). After determine the sample size of students in each school and the aleatory election of the classrooms a questionnaire validated previously was used, and we did a survey in 1633 students. Statistically We look for percentage,s, associations, logistic regression measures and build a R.O.C curve. Results: The incidente of bullying was in average 50,7 percent The variables significant associated with bullying in the logistic regression were nicknames, beats, no communication, homosexual insult, physical defect, work need, medical attendance, pursue, spitted, forced to do thing than they didn't want, discrimination and e-mail inssult. Conclussions: The bullying has multicausal origin, give health problems, scholar phobia, and at long time the prognosis for victims and agressors is negative and they could be involved in problems with the law.

Selection of useful predictors in multivariate calibration.

Ten techniques used for selection of useful predictors in multivariate calibration and in other cases of multivariate regression are described and discussed in terms of their performance (ability to detect useless predictors, predictive power, number of retained predictors) with real and artificial data. The techniques studied include classical stepwise ordinary least-squares (SOLS), techniques based on the genetic algorithms, and a family of methods based on partial least-squares (PLS) regression and on the optimization of the predictive ability. A short introduction presents the evaluation strategies, a description of the quantities used to evaluate the regression model, and the criteria used to define the complexity of PLS models. The selection techniques can be divided into conservative techniques that try to retain all the informative, useful predictors, and parsimonious techniques, whose objective is to select a minimum but sufficient number of useful predictors. Some combined techniques, in which a conservative technique is used to perform a preliminary selection before the use of parsimonious techniques, are also presented. Among the conservative techniques, the Westad-Martens uncertainty test (MUT) used in Unscrambler, and uninformative variables elimination (UVE), developed by Massart et al., seem the most efficient techniques. The old SOLS can be improved to become the most efficient parsimonious technique, by means of the use of plots of the F-statistics value of the entered predictors and comparison with parallel results obtained with a data matrix with random data. This procedure indicates correctly how many predictors can be accepted and substantially reduces the possibility of overfitting. A possible alternative to SOLS is iterative predictors weighting (IPW) that automatically selects a minimum set of informative predictors. The use of an external evaluation set, with objects never used in the elimination of predictors, or of "complete validation" is suggested to avoid overestimate of the prediction ability.

Ariadne-1: a vital Drosophila gene is required in development and defines a new conserved family of ring-finger proteins.

We report the identification and functional characterization of ariadne-1 (ari-1), a novel and vital Drosophila gene required for the correct differentiation of most cell types in the adult organism. Also, we identify a sequence-related gene, ari-2, and the corresponding mouse and human homologues of both genes. All these sequences define a new protein family by the Acid-rich, RING finger, B-box, RING finger, coiled-coil (ARBRCC) motif string. In Drosophila, ari-1 is expressed throughout development in all tissues. The mutant phenotypes are most noticeable in cells that undergo a large and rapid membrane deposition, such as rewiring neurons during metamorphosis, large tubular muscles during adult myogenesis, and photoreceptors. Occasional survivors of null alleles exhibit reduced life span, motor impairments, and short and thin bristles. Single substitutions at key cysteines in each RING finger cause lethality with no survivors and a drastic reduction of rough endoplasmic reticulum that can be observed in the photoreceptors of mosaic eyes. In yeast two-hybrid assays, the protein ARI-1 interacts with a novel ubiquitin-conjugating enzyme, UbcD10, whose sequence is also reported here. The N-terminal RING-finger motif is necessary and sufficient to mediate this interaction. Mouse and fly homologues of both ARI proteins and the Ubc can substitute for each other in the yeast two-hybrid assay, indicating that ARI represents a conserved novel mechanism in development. In addition to ARI homologues, the RBR signature is also found in the Parkinson-disease-related protein Parkin adjacent to an ubiquitin-like domain, suggesting that the study of this mechanism could be relevant for human pathology.

African swine fever virus dUTPase is a highly specific enzyme required for efficient replication in swine macrophages.

The African swine fever virus (ASFV) gene E165R, which is homologous to dUTPases, has been characterized. A multiple alignment of dUTPases showed the conservation in ASFV dUTPase of the motifs that define this protein family. A biochemical analysis of the purified recombinant enzyme showed that the virus dUTPase is a trimeric, highly specific enzyme that requires a divalent cation for activity. The enzyme is most probably complexed with Mg(2+), the preferred cation, and has an apparent K(m) for dUTP of 1 microM. Northern and Western blotting, as well as immunofluorescence analyses, indicated that the enzyme is expressed at early and late times of infection and is localized in the cytoplasm of the infected cells. On the other hand, an ASFV dUTPase-deletion mutant (vDeltaE165R) has been obtained. Growth kinetics showed that vDeltaE165R replicates as efficiently as parental virus in Vero cells but only to 10% or less of parental virus in swine macrophages. Our results suggest that the dUTPase activity is dispensable for virus replication in dividing cells but is required for productive infection in nondividing swine macrophages, the natural host cell for the virus. The viral dUTPase may play a role in lowering the dUTP concentration in natural infections to minimize misincorporation of deoxyuridine into the viral DNA and ensure the fidelity of genome replication.

A new meroditerpenoid dimer from an undescribed Philippine marine sponge of the genus Strongylophora.

An undescribed Philippine marine sponge of the genus Strongylophora yielded a new meroditerpenoid-strongylophorine dimer (1) and the known meroditerpenoids, strongylophorine-2 (2), strongylophorine-3 (3), and strongylophorine-4 (4). The structures of the compounds were established on the basis of NMR spectroscopic and mass spectrometric data. The position of the inter-unit linkage in the new compound was elucidated after methylation and 1D 1H NOE difference experiments. This is the first report wherein the1H and 13C NMR data of the strongylophorine congeners are fully and unambiguously assigned on the basis of 2D NMR spectroscopy. Compounds 2 and 3 exhibited slight activity against Micrococcus luteus and Salmonella typhii, respectively. Compound 3 was active against the phytopathogenic fungusCladosporium cucumerinum and also against the neonate larvae of the polyphagous pest insectSpodoptera littoralis (EC50 of 69 [+/-0.48 (S.E.)] ppm) when incorporated into artificial diet. Compound 1 was found to be the most active in the brine shrimp lethality test with a LC50 of 10.5 [+/-0.43 (S.E.)] microg/mL.

Characterization of an African swine fever virus 20-kDa DNA polymerase involved in DNA repair.

African swine fever virus (ASFV) encodes a novel DNA polymerase, constituted of only 174 amino acids, belonging to the polymerase (pol) X family of DNA polymerases. Biochemical analyses of the purified enzyme indicate that ASFV pol X is a monomeric DNA-directed DNA polymerase, highly distributive, lacking a proofreading 3'-5'-exonuclease, and with a poor discrimination against dideoxynucleotides. A multiple alignment of family X DNA polymerases, together with the extrapolation to the crystal structure of mammalian DNA polymerase beta (pol beta), showed the conservation in ASFV pol X of the most critical residues involved in DNA binding, nucleotide binding, and catalysis of the polymerization reaction. Therefore, the 20-kDa ASFV pol X most likely represents the minimal functional version of an evolutionarily conserved pol beta-type DNA polymerase core, constituted by only the "palm" and "thumb" subdomains. It is worth noting that such an "unfingered" DNA polymerase is able to handle templated DNA polymerization with a considerable high fidelity at the base discrimination level. Base excision repair is considered to be a cellular defense mechanism repairing modified bases in DNA. Interestingly, the fact that ASFV pol X is able to conduct filling of a single nucleotide gap points to a putative role in base excision repair during the ASFV life cycle.

[Hepatitis B at a hemodialysis unit: description of an outbreak and control measures]. / Hepatitis B en una unidad de hemodiálisis: descripción de un brote y medidas de control.

An outbreak of hepatitis B virus infection in a hemodialysis unit which occurred after the arrival of an antigen carrier is described. During a period of five months, four cases were registered for an incidence of 14.8 percent, compared to 3.2 and 0 percent during preepidemic and postepidemic periods, respectively. There is no national surveillance program for hepatitis B in hemodialysis units in Mexico. We therefore suppose that there is a high frequency of infection among both patients and personnel, causing considerable morbidity, mortality and financial impact. The following article details the established control measures, and emphasizes the importance of implementing a permanent program which includes serological screening, policies for disinfection of machines, dialyzers, and environmental surfaces inside the unit, as well as general precautions for blood and other body fluids. The efficacy of the vaccine in patients and personnel is also discussed.