Epidemiología y clínica de las metástasis vertebrales / Epidemiology and clinic of vertebral metastasis

El cáncer es en España la segunda causa de muerte en mujeres (22%) y la primera en varones (31%). En este capítulo describimos los tipos más frecuentes de metástasis raquídeas, sus localizaciones más habituales dentro de la columna vertebral, así como su comportamiento clínico. Analizamos también los cuadros neurológicos más comúnmente asociados a las metástasis de columna: compresión radicular, compresión medular, cauda equina y afectación medular.(AU)

Cancer is in Spain the second cause of death in women (22%) and the first in men (31%). In this chapter we describe the most frequent types of spinal metastases, their most frequent locations within the spine, as well as their clinical behavior. We also analyze the neurological conditions most frequently associated with spinal metastases: root compression, spinal cord compression, cauda equina, and spinal cord involvement.(AU)

[Translated article] Epidemiology and clinic of vertebral metastasis / Epidemiología y clínica de las metástasis vertebrales

El cáncer es en España la segunda causa de muerte en mujeres (22%) y la primera en varones (31%). En este capítulo describimos los tipos más frecuentes de metástasis raquídeas, sus localizaciones más habituales dentro de la columna vertebral, así como su comportamiento clínico. Analizamos también los cuadros neurológicos más comúnmente asociados a las metástasis de columna: compresión radicular, compresión medular, cauda equina y afectación medular.(AU)

Cancer is in Spain the second cause of death in women (22%) and the first in men (31%). In this chapter we describe the most frequent types of spinal metastases, their most frequent locations within the spine, as well as their clinical behavior. We also analyze the neurological conditions most frequently associated with spinal metastases: root compression, spinal cord compression, cauda equina, and spinal cord involvement.(AU)

Especialización de enfermería en anestesiología y reanimación como necesidad formativa en Cuba / Nursing specialization in anesthesiology and resuscitation as a training need in Cuba

Introducción: Las especialidades de posgrado constituyen la formación académica que le proporciona al profesional la actualización, profundización, perfeccionamiento o ampliación de las competencias laborales para el desempeño asistencial que requiere. Objetivo: Explorar la percepción de los enfermeros certificados para la práctica de la anestesiología sobre la necesidad de la formación de enfermeros especialistas en anestesiología y reanimación. Métodos: Se realizó un estudio cualitativo, de tipo Investigación Convergente Asistencial en el Departamento de Docencia e Investigación del Hospital Provincial Pediátrico Universitario de Villa Clara, Cuba, entre los meses de enero y marzo del año 2022. El universo estuvo compuesto por 100 profesionales de enfermería certificados en anestesiología, y la muestra seleccionada a través de un muestreo teórico quedó constituida por 80. Se realizaron entrevistas informales y ocho grupos de discusión en el proceso investigativo. Resultados: Los participantes perciben como necesaria la formación de enfermeros especialistas en anestesiología, reanimación y alivio del dolor. Las estrategias para lograr esta formación deben estar dirigidas a su aprobación por parte de las instancias de posgrado del Ministerio de Salud Pública y el Ministerio de Educación Superior. Conclusiones: Perciben como perentorio la formación de enfermeros especialistas en anestesiología y reanimación, ya que permitirá garantizar la adecuada renovación de este recurso humano, contar con enfermeras capacitadas y capaces de brindar atención anestesiológica óptima, alcanzar un nivel profesional superior que los coloque paralelos a otras áreas del cuidado y formar recursos humanos más jóvenes que tengan un nivel de preparación superior en esta especialidad.

Introduction: Postgraduate specialties constitute the academic training that provides the professional with the updating, deepening, improvement or expansion of labor competencies for the care performance that is required. Objective: to explore the perception of certified nurses for the practice of anesthesiology on the need to train specialist nurses in anesthesiology and resuscitation. Methods: A qualitative study of the Convergent Care Research type was carried out in the Teaching and Research Department of The Provincial Pediatric University Hospital of Villa Clara, Cuba between the months of January and March of the year 2022. The universe was composed of 100 nursing professionals. certificates in anesthesiology and the sample selected through a proven theory was made up of 80. Informal interviews and discussion groups were conducted as instruments in the investigative process. Results: the participants will perceive as necessary the training of specialist nurses in anesthesiology, resuscitation and pain relief. The strategies to achieve this training must be directed to its approval by the postgraduate instances of the Ministry of Public Health and the Ministry of Higher Education. Conclusions: the training of nurses specialized in anesthesiology and resuscitation is imperative, as it will guarantee the adequate renewal of this human resource, have trained nurses capable of providing optimal anesthesiological care, reach a higher professional level than place them parallel to other areas. of care and train younger human resources that have a higher level of preparation in this specialty.

[Translated article] Epidemiology and clinic of vertebral metastasis.

Cancer is in Spain the second cause of death in women (22%) and the first in men (31%). In this chapter, we describe the most frequent types of spinal metastases, their most frequent locations within the spine, as well as their clinical behaviour. We also analyse the neurological conditions most frequently associated with spinal metastases: root compression, spinal cord compression, cauda equina, and spinal cord involvement.

Epidemiology and clinic of vertebral metastasis. / Epidemiología y clínica de las metástasis vertebrales.

Cancer is in Spain the second cause of death in women (22%) and the first in men (31%). In this chapter we describe the most frequent types of spinal metastases, their most frequent locations within the spine, as well as their clinical behavior. We also analyze the neurological conditions most frequently associated with spinal metastases: root compression, spinal cord compression, cauda equina, and spinal cord involvement.

Neurocognitive function in adult residents of a mining district in Mexico after reducing manganese exposure: Follow-up after 11 years.

BACKGROUND: Little is known about the neurotoxic effects of chronic exposure to airborne Mn once exposure has been reduced. The environmentally exposed and the reference adult populations evaluated in 2002 were followed, after an environmental management program (EMP) was implemented to reduce the exposure in a mining district in Mexico. OBJECTIVE: The aim of this study was to compare the association between exposure to Mn and neurocognitive performance in environmentally exposed and reference groups of adults before and after EMP implementation. METHODS: In 2013, the same battery of neurocognitive tests used in the initial study (2002) was applied to 58 adults exposed to airborne Mn and 30 adults from the reference community. A cumulative exposure index (CEI) was estimated for the study population before and after the EMP. Categorical outcomes were analyzed using logistic regression, and the resulting ORs were compared between studies. Continuous outcomes were analyzed using linear regression. All models were adjusted for age, years of education, socioeconomic status and blood lead levels. RESULTS: Exposed adults from the post-EMP study showed an improvement in fine motor and verbal regulation of motor skills (OR < 1) compared to the exposed adults from the pre-EMP study (OR > 1). In both pre- and post-studies, the exposed adults showed a deterioration in their dynamic organization of motor activity compared to the reference group (p < 0.05); however, they showed no significant change in attention and working-memory performance. DISCUSSION: After four years of a significant reduction in airborne Mn levels resulting from EMP implementation, chronically exposed adults showed an improvement in fine motor and verbal regulation of motor skills; however, the remaining areas of their motor and cognitive functions remained impaired.

Nivel de riesgo y dependencia asociados con el consumo de sustancias adictivas en adolescentes de Santa Elena, Ecuador / Level of risk and dependence associated with the consumption of addictive substances in adolescents from Santa Elena, Ecuador

Introducción: el consumo de sustancias adictivas por los adolescentes constituye un creciente problema a nivel mundial. Ecuador tiene los reportes más elevados con respecto a otros países de Sudamérica. Objetivo: determinar el nivel de riesgo y la dependencia asociados con el consumo de sustancias en los adolescentes. Material y métodos: estudio descriptivo, transversal en una muestra no probabilística, intencional de 431 adolescentes de las Unidades Educativas de la Provincia Santa Elena de 2018 al 2020 donde se aplicó la prueba de detección de consumo de alcohol, tabaco y sustancias. Resultados: las sustancias psicotrópicas más utilizada son las bebidas alcohólicas en 60,2 %; existe predominio del inicio de consumo de sustancias entre los 14 y 18 años de edad y el 4.4 % revelan haber presentado inconvenientes en su salud por el consumo de estas sustancias. Conclusión: existe un bajo nivel de percepción del riesgo de los adolescentes en relación al consumo de sustancias lo que señala la necesidad de reforzar el conocimiento del daño potencial que ocasionan en este grupo vulnerable

Introduction: the consumption of addictive substances by adolescents constitutes a growing problem worldwide. Ecuador has the highest reports compared to other countries in South America. Objective: to determine the level of perception of risk of adolescents in relation to the consumption of addictive substances. Material and methods: descriptive, cross-sectional study in a non-probabilistic, intentional sample of 431 adolescents. Results: the most used psychotropic substances are alcoholic beverages in 60.2%. There is a predominance of the onset of substance use between 14 and 18 years of age and 4.4% reveal having presented health problems due to the consumption of these substances. Conclusion: there is a low level of perception of the risk of adolescents in relation to the consumption of substances, which indicates the need to reinforce the knowledge of the potential harm they cause in this vulnerable group.

¿Podemos predecir el tamaño de la plastia de los isquiotibiales para la reconstrucción del ligamento cruzado anterior mediante resonancia magnética? / Can we predict the graft diameter for autologous hamstring in anterior cruciate ligament reconstruction?

Conseguir en la reconstrucción de una rotura completa del ligamento cruzado anterior una plastia con fuerza, tensión y poca comorbilidad es fundamental. Un concepto emergente es que plastias menores de 7mm de diámetro tienen mayor riesgo de rerrotura e inestabilidad. Consecuentemente se están buscando distintos métodos que predigan el tamaño intraquirófano de la misma. El objetivo es predecir el tamaño de la plastia de isquiotibiales mediante la medición del área del tendón semitendinoso y grácil con resonancia magnética nuclear (RMN). METODOLOGÍA: Estudio observacional restrospectivo de 56 pacientes, en los que se realiza reconstrucción tetrafascicular del ligamento cruzado anterior mediante plastia de isquiotibiales. Los parámetros evaluados han sido: datos antropométricos, diámetro de la plastia intraquirófano, área del tendón del grácil y semitendinoso en RMN. Las mediciones fueron realizadas por tres evaluadores independientes. RESULTADOS: El diámetro medio intraquirófano de la plastia fue de 8,46mm; la medición mediante RMN del área del grácil fue de 8.875mm y del semitendinoso de 13.068mm. La suma de ellas fue de 22,12 para la medición automática y de 21,53 para la manual. La correlación interobservador fue regular para la medición automática (ICC=0,595) y baja para la forma manual (ICC=0,446). El resultado de la correlación intraobservador fue excelente (ICC=0,917). No obtuvimos una correlación estadística entre la medición de áreas y el aumento del diámetro de la plastia (R=0,069, P=0,63). CONCLUSIÓN: Determinamos con nuestros resultados que la medición de la plastia intraquirófano de isquiotibiales y la medición mediante RMN no es un método adecuado para predecir su tamaño

To achieve in the reconstruction of the anterior cruciate ligament a graft with strength, tension and low comorbidity is fundamental. An emerging concept is that a graft diameter of less than 7mm carries a greater risk of re-rupture and instability. Consequently, different methods are being sought to predict intra-surgical size. The objective is to predict the size of the hamstring graft by measuring the area of the semitendinous and gracilis tendon with magnetic resonance imaging (MRI). METHODOLOGY: We carried out an observational retrospective study of 56 patients. They underwent anterior cruciate ligament reconstruction with 4-GST hamstring graft. The parameters evaluated were anthropometric data, hamstring graft diameter, area of gracilis and semitendinosus tendon in MRI. The measurements were made by three independent evaluators. RESULTS: The mean diameter of the intrasurgical graft was 8.46mm, in the MRI the area of the gracilis was 8,875mm and the semitendinosus area was 13,068mm. Their mean was 22.12 for the automatic measurement and 21.53 for the manual measurement. The interobserver correlation was regular for the automatic measurement (ICC = 0.595) and low for the manual measurement (ICC = 0.446). The result of the intraobserver correlation was excellent (ICC = 0.917). We did not obtain a statistical correlation between the measurement of areas and the increase of the graft diameter (R = 0.069, P = .63). CONCLUSION: We determined with our results that the intrasurgical graft size is not predictable with the measurement of the area of the gracilis and semitendinosus tendon on the MRI

Can we predict the graft diameter for autologous hamstring in anterior cruciate ligament reconstruction? / ¿Podemos predecir el tamaño de la plastia de los isquiotibiales para la reconstrucción del ligamento cruzado anterior mediante resonancia magnética?

To achieve in the reconstruction of the anterior cruciate ligament a graft with strength, tension and low comorbidity is fundamental. An emerging concept is that a graft diameter of less than 7mm carries a greater risk of re-rupture and instability. Consequently, different methods are being sought to predict intra-surgical size. The objective is to predict the size of the hamstring graft by measuring the area of the semitendinous and gracilis tendon with magnetic resonance imaging (MRI). METHODOLOGY: We carried out an observational retrospective study of 56 patients. They underwent anterior cruciate ligament reconstruction with 4-GST hamstring graft. The parameters evaluated were anthropometric data, hamstring graft diameter, area of gracilis and semitendinosus tendon in MRI. The measurements were made by three independent evaluators. RESULTS: The mean diameter of the intrasurgical graft was 8.46mm, in the MRI the area of the gracilis was 8,875mm and the semitendinosus area was 13,068mm. Their mean was 22.12 for the automatic measurement and 21.53 for the manual measurement. The interobserver correlation was regular for the automatic measurement (ICC = 0.595) and low for the manual measurement (ICC = 0.446). The result of the intraobserver correlation was excellent (ICC = 0.917). We did not obtain a statistical correlation between the measurement of areas and the increase of the graft diameter (R = 0.069, P = .63). CONCLUSION: We determined with our results that the intrasurgical graft size is not predictable with the measurement of the area of the gracilis and semitendinosus tendon on the MRI.

Verbal Memory and Learning in Schoolchildren Exposed to Manganese in Mexico.

Manganese (Mn) is an essential nutrient for cellular function, but in high concentrations, it is neurotoxic. Environmental exposure to Mn has been associated with cognitive effects in children. This study aimed to assess the effect of environmental exposure to Mn on verbal memory and learning in schoolchildren residents from two municipalities in the state of Hidalgo, Mexico. Cross-sectional studies were conducted in 2006 and 2013 with a total of 265 schoolchildren of 7 to 11 years old. Children's Auditory Verbal Learning Test-2 (CAVLT-2) was used to assess verbal memory and learning. Mn exposure tertiles were defined according to hair manganese (MnH) levels determined by atomic absorption spectrophotometry. Linear regression models were used to estimate the association between MnH levels and CAVLT-2 scores. The models were adjusted by potential confounders. The lowest and highest exposure tertiles were defined below and above MnH levels of ≤ 0.72 and ≥ 3.96 µg/g, respectively. Mn exposure was significantly associated with an average of 5- to 9-point decrease in learning curves and summary CAVLT-2 scores in the highest tertile. This study adds to the evidence of decreased verbal memory and learning in schoolchildren environmentally exposed to manganese.

Mapeo Comunitario para impulsar la participación comunitaria dentro del diagnóstico de salud poblacional / Boosting community participation in the diagnosis of population health through community mapping / Mapeamento Comunitário para impulsionar a participação comunitária dentro do diagnóstico de saúde populacional

Resumen Introducción: La salud pública tiene en el diagnóstico de salud poblacional una de las principales herramientas de investigación y planificación sanitaria. La participación activa de la población en el diagnóstico poblacional es fundamental y el mapeo comunitario es una técnica que la promueve. Objetivo: Presentar las aportaciones del uso del mapeo comunitario para la participación de la población durante el desarrollo del diagnóstico de salud poblacional. Métodos: Para dar evidencia de las aportaciones de ésta técnica, durante el desarrollo de los diagnósticos de salud, efectuados entre los años 2010 y 2014, en zonas rurales y suburbanas del centro de México, se efectuaron ejercicios de mapeo comunitario con diversos grupos poblacionales (niños, jóvenes y adultos de ambos sexos), quienes identificaban en el mapa aspectos tanto positivos como negativos de su comunidad, lo cual se plasmó en necesidades sentidas de la población. Resultados: A través del mapeo comunitario se despertó el interés y se logró estimular la participación poblacional en la identificación de necesidades, priorización de problemas y soluciones. Conclusiones: La inclusión del mapeo comunitario dentro del diagnóstico poblacional, propicia la participación y fortalece procesos organizativos, lo cual permite que se busquen soluciones a las problemáticas identificadas.

Abstract Introduction: Public health has, in the diagnosis of population health, a main researching and sanitary planning tool. The diagnosis of population health is a fundamental task, and community mapping is a technique which promotes the active participation of people. Objective: To show the input from the use of community mapping for boosting the population participation during the diagnosis of population health. Methods: In order to provide evidence on the input from this technique, during the development of the health diagnoses between 2010 and 2014, in rural and suburban zones in central Mexico, community mapping drills were carried out with diverse population groups (children, young, and adults, from both sexes) who identified positive and negative issues of their community, thus giving shape to a community map of their needs. Results: By using the community mapping technique, the participation of the people in the identification of needs and prioritization of problems and solutions was stimulated. Conclusions: The inclusion of the community mapping technique in the population diagnosis fosters the participation and strengthens organizational processes allowing a better response to the identified problems.

Resumo Introdução: A saúde pública tem no diagnóstico de saúde populacional uma das principais ferramentas de pesquisa e planificação sanitária. A participação ativa da população no diagnóstico populacional é fundamental e o mapeamento comunitário é uma técnica que a promove. Objetivo: Apresentar as contribuições do uso do mapeamento comunitário para a participação da população durante o desenvolvimento do diagnóstico de saúde populacional. Métodos: Para dar evidencia das contribuições desta técnica, durante o desenvolvimento dos diagnósticos de saúde, efetuados entre os anos 2010 e 2014, em zonas rurais e suburbanas do centro do México, efetuaram-se exercícios de mapeamento comunitário com diversos grupos populacionais (crianças, adolescentes e adultos de ambos os sexos), quem identificava no mapa aspectos tanto positivos quanto negativos de sua comunidade, o qual se retratou nas necessidades sentidas da população. Resultados: A través do mapeamento comunitário acordou-se o interesse e conseguiu-se estimular a participação populacional na identificação de necessidades, priorização de problemas e soluções. Conclusões: A inclusão do mapeamento comunitário dentro do diagnóstico populacional, propicia a participação e fortalece processos organizativos, o qual permite que se procurem soluções às problemáticas identificadas.

Diacylglycerol kinase synthesized by commensal Lactobacillus reuteri diminishes protein kinase C phosphorylation and histamine-mediated signaling in the mammalian intestinal epithelium.

Lactobacillus reuteri 6475 (Lr) of the human microbiome synthesizes histamine and can suppress inflammation via type 2 histamine receptor (H2R) activation in the mammalian intestine. Gut microbes such as Lr promote H2R signaling and may suppress H1R proinflammatory signaling pathways in parallel by unknown mechanisms. In this study, we identified a soluble bacterial enzyme known as diacylglycerol kinase (Dgk) from Lr that is secreted into the extracellular milieu and presumably into the intestinal lumen. DgK diminishes diacylglycerol (DAG) quantities in mammalian cells by promoting its metabolic conversion and causing reduced protein kinase C phosphorylation (pPKC) as a net effect in mammalian cells. We demonstrated that histamine synthesized by gut microbes (Lr) activates both mammalian H1R and H2R, but Lr-derived Dgk suppresses the H1R signaling pathway. Phospho-PKC and IκBα were diminished within the intestinal epithelium of mice and humans treated by wild-type (WT) Lr, but pPKC and IκBα were not decreased in treatment with ΔdgkA Lr. Mucosal IL-6 and systemic interleukin (IL)-1α, eotaxin, and granulocyte colony-stimulating factor (G-CSF) were suppressed in WT Lr, but not in ΔdgkA Lr colonized mice. Collectively, the commensal microbe Lr may act as a "microbial antihistamine" by suppressing intestinal H1R-mediated proinflammatory responses via diminished pPKC-mediated mammalian cell signaling.

GABA-producing Bifidobacterium dentium modulates visceral sensitivity in the intestine.

BACKGROUND: Recurrent abdominal pain is a common and costly health-care problem attributed, in part, to visceral hypersensitivity. Increasing evidence suggests that gut bacteria contribute to abdominal pain perception by modulating the microbiome-gut-brain axis. However, specific microbial signals remain poorly defined. γ-aminobutyric acid (GABA) is a principal inhibitory neurotransmitter and a key regulator of abdominal and central pain perception from peripheral afferent neurons. Although gut bacteria are reported to produce GABA, it is not known whether the microbial-derived neurotransmitter modulates abdominal pain. METHODS: To investigate the potential analgesic effects of microbial GABA, we performed daily oral administration of a specific Bifidobacterium strain (B. dentiumATCC 27678) in a rat fecal retention model of visceral hypersensitivity, and subsequently evaluated pain responses. KEY RESULTS: We demonstrate that commensal Bifidobacterium dentium produces GABA via enzymatic decarboxylation of glutamate by GadB. Daily oral administration of this specific Bifidobacterium (but not a gadB deficient) strain modulated sensory neuron activity in a rat fecal retention model of visceral hypersensitivity. CONCLUSIONS & INFERENCES: The functional significance of microbial-derived GABA was demonstrated by gadB-dependent desensitization of colonic afferents in a murine model of visceral hypersensitivity. Visceral pain modulation represents another potential health benefit attributed to bifidobacteria and other GABA-producing species of the intestinal microbiome. Targeting GABAergic signals along this microbiome-gut-brain axis represents a new approach for the treatment of abdominal pain.

Effects of manganese exposure on visuoperception and visual memory in schoolchildren.

BACKGROUND: Manganese (Mn) is an essential metal involved in multiple physiological functions. Environmental exposure to airborne Mn is associated with neurocognitive deficits in humans. Children, whose nervous system is in development, are particularly susceptible to Mn neurotoxicity. OBJECTIVE: The objective of this study was to assess the association between Mn environmental exposure, and effects on visuoperception and visual memory in schoolchildren. METHODS: We assessed schoolchildren between 7 and 11 years old, with similar socioeconomic status, from the mining district of Molango (n=148) and Agua Blanca (n=119, non-mining area) in Hidalgo state, Mexico. The Rey-Osterrieth Complex Figure (ROCF) test was used to assess visuoperception and short-term visual memory. Hair manganese (MnH) concentrations were determined. Linear regression models were constructed to estimate the associations between MnH and ROCF scores, adjusted for potential confounders. RESULTS: The geometric mean MnH was nine times higher in schoolchildren from the Mn mining area (5.25µg/g) than in schoolchildren from the non-mining area (0.55µg/g). For the ROCF Copy trial, MnH was significantly associated with an increase in distortion errors (tangency, closure), angle errors, overtracing (partial overtracing). In the Immediate Recall trial, MnH was significantly associated with increased overtracing (partial overtracing) and omissions, and negatively associated with the number of perceptual drawn units, total score and percentage immediate recall. CONCLUSIONS: MnH is associated with alterations in visuoperception and short-term visual memory in schoolchildren exposed to airborne Mn.

Reliability of texture analysis using co-occurrence matrices (glcm) on photographic image in the assessment of cellulite in a Spanish population.

BACKGROUND: Despite the existence of diverse instruments to assess cellulite, its high prevalence and the continuous advances in its treatment makes the development of new, more objective methods for evaluation necessary. AIM: To study intraobserver validity and reliability (test-retest) of textural analysis using co-occurrence matrices on photographic images in the evaluation of cellulite in a Spanish population and its possible relationship to the degree of cellulite. METHODS: Twenty-seven women were selected for this reliability study (mean age 26.41 SD = 6.16). Digital photographs were taken under standardized conditions in contraction and relaxation of the femoral gluteus region. The areas of interest of the photographs were selected at two different times a month apart. Textural parameters studied were energy (ASM), entropy, contrast, Homogeneity (IDM) and textural correlation. Reliability was analysed by the intraclass correlation coefficient (ICC). Differences between laterality and between contraction and relaxation were performed by analysis of variance for repeated measurements. Correlation between Cellulite Severity Scale (CSS) and the textural parameters by means of the Pearson correlation coefficient was studied. CSS was re-coded to a binary variable, performing a differentiate analysis for each laterality with this variable and the textural parameters. RESULTS: In the intraobserver reliability analysis ICC was high (≥0.80) in seven parameters and excellent (≥0.90) in 35 parameters. In general, CSS and textural parameters showed more cellulite severity in right areas than in left ones. Correlation coefficients showed a moderate correlation between textural parameters and CSS score. The multivariate discriminant model obtained with textural parameters classified a high percentage of images (96% right side and 82% left side). CONCLUSION: Textural analysis used to assess cellulite on the backs of thighs and buttocks proved to be an instrument that has excellent reliability, moderate correlation with CSS and a satisfactory power classification model.

Genome-wide association study of Tourette's syndrome.

Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.

Effect of environmental manganese exposure on verbal learning and memory in Mexican children.

Manganese (Mn) is an essential metal, but in excess it becomes neurotoxic. Children's developing nervous system may be especially vulnerable to the neurotoxic effects of overexposure to this metal. The aim of this study was to assess the effect of Mn exposure on verbal memory and learning in 7- to 11-year-old children. We tested 79 children living in the Molango Mn-mining district and 95 children from a non-exposed community in the same State of Mexico. The Children's Auditory Verbal Learning Test (CAVLT) was administered. Blood and hair samples were obtained to determine Mn concentrations using atomic absorption spectrophotometry. CAVLT performance was compared between the two groups and multilevel regression models were constructed to estimate the association between biomarkers of Mn exposure and the CAVLT scores. The exposed group presented higher hair and blood Mn (p<0.001) than the non-exposed group (median 12.6 vs. 0.6µg/g, 9.5vs. 8.0µg/L respectively), as well as lower scores (p<0.001) for all the CAVLT subscales. Hair Mn was inversely associated with most CAVLT subscales, mainly those evaluating long-term memory and learning (ß=-0.47, 95% CI -0.84, -0.09). Blood Mn levels showed a negative but non-significant association with the CAVLT scores. These results suggest that Mn exposure has a negative effect on children's memory and learning abilities.

Prevalencia de autoinmunidad de enfermedad celíaca en mujeres con indicación de tratamiento de reproducción asistida de alta complejidad / Prevalence of celiac disease autoimmunity in women with indication of high complexity assisted reproduction treatment

INTRODUCCIÓN La enfermedad celíaca (EC) es una enteropatía multisistémica inducida por el gluten de la dieta en individuos genéticamente predispuestos. Si bien afecta aproximadamente al 1% de la población general, la mayoría de los pacientes permanecen sin diagnosticar. La EC puede presentarse con una amplia variedad de manifestaciones extraintestinales, que incluyen trastornos ginecológicos y obstétricos. La relación entre infertilidad y subdiagnóstico de EC ha sido informada en diferentes estudios con valores variables (1-8%), pero continúa siendo controvertida. OBJETIVOS Evaluar la prevalencia serológica de EC en una serie consecutiva de mujeres asistentes a una "clínica de fertilidad" para un tratamiento de reproducción asistida de alta complejidad. MÉTODOS Se realizó un cribado serológico prospectivo para EC en una serie de mujeres infértiles que cumplían los criterios de inclusión. Todas las pacientes realizaron una evaluación clínica y una prueba serológica específica de EC (anti-transglutaminasa tisular IgA y polipéptidos deamidados de gliadina IgG + IgA). Se definió autoinmunidad celíaca a la positividad concomitante de ambos autoanticuerpos. RESULTADOS Se incluyó a 211 mujeres (edad mediana: 38 años; rango: 27-42). Se identificó una causa orgánica de infertilidad en 142 pacientes (67%), y 69 mujeres (33%) fueron consideradas como infértiles de causa inexplicable. Se encontró autoinmunidad celíaca en 5 de las 211 mujeres infértiles y en 2 de las 69 pacientes con infertilidad inexplicable. No hubo diferencias significativas entre los grupos mencionados. DISCUSIÓN os resultados evidenciaron un riesgo 2,9 veces mayor en la prevalencia de autoinmunidad de EC en las pacientes con infertilidad de causa desconocida con respecto a la población general. La investigación para EC debería incorporarse a las herramientas de diagnóstico en la evaluación de pacientes que asisten a una clínica de fertilidad, principalmente en aquellas sin causas orgánicas de este trastorno.

Gender differences in ancestral contribution and admixture in Venezuelan populations.

The origin of the contribution of uniparental heritage were analyzed in 615 samples of individuals proceeding from 13 towns classified according to historic differences in their emergence and development as African-derived, European-derived, and admixed/urban. Mitochondrial and Y-chromosome haplogroups were identified by PCR-restriction fragment length polymorphism. The results were compared with previous estimates of admixture made with autosomal markers and with historic aspects. The results show a predominantly indigenous genetic contribution through the female, being more prevalent in urban populations; the African contribution, although dispersed, presents a larger concentration in the African-derived towns, whereas the European contribution is limited to populations with this origin, reflecting isolation and the conservation of the distribution pattern of genes of the Colonial era. With regard to admixture through males, it is almost exclusively of European origin, whereas the African contribution is basically concentrated in the African-derived towns, and the Amerindian lineages are almost nonexistent. The genome of paternal heredity, as opposed to the autosomal and the mitochondrial, shows a homogeneous pattern of admixture that is independent of the origin of the population studied, suggesting that European genes have been introduced into the Venezuelan population through male immigrations, whereas the indigenous contribution has been preserved in the Venezuelan genetic pool through the women. These results provide evidence of the heterogeneity in the genetic origin of the Venezuelan population, which should be taken into account in forensic and epidemiologic genetic studies.

Elemental carbon exposure and lung function in school children from Mexico City.

Though exposure to air pollution has a detrimental effect on respiratory health, few studies have examined the association between elemental carbon exposure and lung function among schoolchildren. The aim of the present study was to present the association between short-term elemental carbon exposure and lung function in schoolchildren from Mexico City. 55 asthmatic and 40 non-asthmatic children were followed for an average of 22 weeks. A spirometry test was performed every 15 days during follow-up. Portable air samplers collected particulate matter onto Teflon filters. Gravimetric analysis was conducted and elemental carbon was quantified using transmission densitometry. The association between the main variables was analysed using linear mixed effects models. The mean ± sd of elemental carbon light absorption was 92.7 ± 54.7 Mm(-1). An increase of one interquartile range in the 24-h average of elemental carbon (100.93 Mm(-1)) was associated with a significant negative impact on forced expiratory volume in 1 s (FEV(1)) (-62.0 (95% CI -123.3- -1.2) mL) and forced expiratory flow at 25-75% of forced vital capacity (FVC) (FEF(25-75%)) (-111 (95% CI -228.3- -4.1) mL) among asthmatic children, equal to 3.3% and 5.5%, respectively; and on FEV(1) (-95.0 (95% CI -182.3- -8.5) mL) and FVC (-105.0 (95% CI -197.0- -13.7) mL) among non-asthmatic children. Exposure to elemental carbon resulted in an important negative effect on lung function in atopic schoolchildren, regardless of asthma status.