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Over time, the effective resistance mechanisms to various first- and second-line drugs against the disease of tuberculosis make its treatment extremely difficult. This work presents a new approach to synthesizing a hybrid of antituberculosis medications: isoniazid (INH) and pyrazinamide (PZA). The synthesis was performed using ultrasound-assisted synthesis to obtain an overall yield of 70%, minimizing the reaction time from 7 to 1 h. The evaluation of the biological activity of the hybrid (compound 2) was tested using the tetrazolium microplate assay (TEMA), showing inhibition in the growth of Mycobacterium tuberculosis H37Rv at a concentration of 0.025 mM at pH 6.0 and 6.7.

Actualmente, el mundo se encuentra repleto de imágenes. El ser humano está dotado de una cultura y alfabetización visual vinculadas que facilitan el entendimiento de todo aquello que le rodea. En este artículo se presenta una experiencia educativa en la que se ha aprovechado dicha cultura visual para llevar al aula de español para extranjeros ocho figuras retóricas. Se parte de la hipótesis de que la alfabetización visual genera una serie de conocimientos que se pueden explotar en la práctica pedagógica, esencialmente al facilitar su comprensión y, por ende, colaborar en el proceso de enseñanza-aprendizaje del alumnado. Para ello, se ha llevado a cabo una investigación cuasi-experimental, por medio de una metodología activa y participativa basada en la observación y en la deducción de procedimientos retóricos a partir de imágenes publicitarias. Para comprobar la efectividad de la propuesta pedagógica se han sometido a análisis dos grupos: uno de control, en el que se aplicaba la enseñanza tradicional; y otro experimental, en el que se introducía un taller pedagógico de carácter horizontal. A través de esta práctica pedagógica se ha logrado que el grupo de discentes de español del grupo experimental, correspondiente a un nivel B2, reconociesen de forma visual ocho figuras retóricas bastante recurrentes en publicidad y mejorasen el dominio de dicho procedimiento retórico. La cultura visual ha permitido llevar al aula un contenido pedagógico difícil de comprender. Asimismo, el alumno ha sido protagonista y guía de su propio aprendizaje a través de la transformación de la estrategia pedagógica, en la que se relacionan conocimiento e interacciones comunicativas.

En esta investigación pretendemos llevar a cabo un análisis lingüístico–pragmático de las fórmulas rutinarias como indicadores lingüísticos del humor en el medio audiovisual, concretamente, se analizará el funcionamiento de estas en un formato multimodal como es la comedia de situación. Para ello, nos apoyaremos en la Teoría General del Humor Verbal (TGHV) (Attardo y Raskin, 1991) y la revisión que realiza Ruiz Gurillo (2012, 2019) para el humor en español. Para realizar nuestro estudio analizaremos una temporada de la versión doblada al castellano de la serie estadounidense Cómo conocí a vuestra madre. El objetivo es mostrar cómo funcionan estas unidades como indicadores humorísticos en la comedia de situación. Tras el análisis efectuado se puede afirmar que las fórmulas rutinarias, aunque se puedan desautomatizar, normalmente ayudan a generar humor en este formato multimodal ya sea otorgándole más énfasis al enunciado o dirigiendo al oyente hacia la interpretación humorística. In this research we intend to lead a linguistic-pragmatic analysis of routines as linguistic indicators of humor in the audiovisual medium. Specifically, it analyzes their functioning in a multimodal format such as the situation comedy. For this, we will rely on the General Theory of Verbal Humor (TGHV) (Attardo and Raskin, 1991) and the review carried out by Ruiz Gurillo (2012, 2019) for humor in Spanish. To carry out our study we analyze the season of the version dubbed into Spanish of the American series How I met your mother. The objective is to show how it works as humorous indicators in the situation comedy. After the analysis carried out, it can be affirmed that the routine formulas, although they can be de-automated, normally help to generate humor in this multimodal format, either by giving more emphasis to the statement or by directing the listener towards the interpretation of humor. Dans cette recherche, nous avons l'intention de mener une analyse linguistique-pragmatique des routines en tant qu'indicateurs linguistiques de l'humour dans le support audiovisuel. En particulier, on analysera le fonctionnement de celles-ci dans un format multimodal tel que la comédie de situation. Pour cela, nous nous appuierons sur la Théorie Générale de l'Humour Verbal (TGHV) (Attardo et Raskin, 1991) et la révision réalisée par Ruiz Gurillo (2012, 2019) pour l'humour en espagnol. Nous analyserons la saison de la version doublée en espagnol de la série américaine How I met your mother. l'objectif est de montrer comment cela fonctionne en tant qu'indicateurs humoristiques dans la comédie de situation en tant qu'unités. Après l'analyse effectuée, on peut affirmer que les formules de routine, bien qu'elles puissent être désautomatisées, contribuent à générer de l'humour dans ce format multimodal, soit en mettant davantage l'accent sur l'énoncé, soit en orientant l'auditeur vers l'interprétation de l'humour. Investigación desarrollada en el Proyecto PROMETEO/2021/079: Etiquetaje pragmático para un observatorio de la identidad de mujeres y hombres a través del humor. La plataforma Observahumor.com (dirigido por Leonor Ruiz Gurillo), subvencionado por la Generalitat Valenciana (programa para grupos de excelencia).

La Teorí­a General del Humor Verbal (TGHV) establecida por Attardo y Raskin en 1991 es una de las teorí­as referentes para analizar el humor en el ámbito de la lingüística. Esta teorí­a se fundamenta en seis recursos de conocimiento que, aplicados de manera jerarquizada, determinan si un texto es humorí­stico o no. Dicha teorí­a se ha aplicado a distintos tipos de textos de forma satisfactoria. Si bien es cierto que el segundo recurso de conocimiento, el mecanismo lógico, conlleva algunas controversias (Ruiz Gurillo, 2012, p. 27). Attardo, Hempelmann y Di Maio (2002) elaboran una clasificación de dichos mecanismos lógicos, distinguiendo dos tipos: los mecanismos lógicos basados en relaciones sintagmáticas, por un lado; y los mecanismos lógicos basados en razonamientos, por otro. El objetivo de este artí­culo es proponer una reestructuración de la clasificación de los mecanismos lógicos, puesto que, si tenemos en cuenta su funcionamiento, solo existen los mecanismos lógicos basados en razonamientos, pues los basados en relaciones sintagmáticas no funcionan como tales mecanismos, sino como indicadores lingí¼í­sticos del humor

En este art��culo reflexionaremos sobre las conductas de riesgo en los adolescentes que m��s preocupan a los docentes del ��rea de Lengua y Literatura castellana que han cursado como especialidad el M��ster Universitario en Did��ctica de la Lengua y la Literatura en Educaci��n Secundaria y Bachillerato en la Universidad Internacional de La Rioja. Para ello, analizaremos un corpus formado por 366 actividades llevadas a cabo por estudiantes de tres nacionalidades diferentes (Colombia, Ecuador y Espa��a) en los cinco cursos (2016 ��� 2020) que se lleva impartiendo la asignatura ���Psicolog��a del adolescente��� en dicho M��ster.

Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55–199 CGGs), is not uncommon. Importantly, both PM and active full mutation (FM: ≥ 200 CGGs) alleles often express elevated levels of mRNA that are thought to be toxic. This study determined if complete FMR1 mRNA silencing from FM alleles and/or levels of FMR1 mRNA (if present) in blood are associated with intellectual functioning and autism features in FXS. Methods The study cohort included 98 participants (70.4% male) with FXS (FM-only and PM/FM mosaic) aged 1–43 years. A control group of 14 females were used to establish control FMR1 mRNA reference range. Intellectual functioning and autism features were assessed using the Mullen Scales of Early Learning or an age-appropriate Wechsler Scale and the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2), respectively. FMR1 mRNA was analysed in venous blood collected at the time of assessments, using the real-time PCR relative standard curve method. Results Females with FXS had significantly higher levels of FMR1 mRNA (p

Introduction. In Peru, breast cancer represents the most common type of cancer in women and the sixth most lethal type ofcancer in the general population. Overexpression of the epidermal growth factor receptor (HER2 +) occurs in 20% to 30%of breast cancers, and is associated with more aggressive tumors, with greater recurrence and greater mortality. Objective.Prepare a set of evidence-based recommendations for the diagnosis and treatment of HER2 + breast cancer, in order to helpreduce mortality, disease progression and improve quality of life. Methods. A panel of clinical specialists and methodologistswas formed, who identified relevant clinical questions about the diagnosis and treatment of HER2 + breast cancer. A systematicsearch for CPGs was carried out in Medline (PubMed), and in developing and compiling agencies. For the formulation ofrecommendations, the panel of specialists discussed the evidence and elements of the context of implementation of therecommendation, following the methodology proposed by the Ministry of Health of Peru. Results. Nine clinical questions wereprioritized. A total of 25 clinical recommendations were made. Conclusions. An evidence-based CPG was developed througha systematic, rigorous and transparent process developed by a multidisciplinary team., Introducción. En Perú, el cáncer de mama representa el tipo de cáncer más frecuente en mujeres y el sexto tipo de cáncermás letal en la población general. La sobreexpresión del receptor del factor de crecimiento epidérmico (HER2+) ocurre en20% a 30% de los cánceres de mama, y se asocia con tumores más agresivos, con mayor recurrencia y mayor mortalidad.Objetivo. Elaborar un conjunto de recomendaciones basadas en evidencias para el diagnóstico y tratamiento del cáncerde mama HER2+, con la finalidad de contribuir a reducir la mortalidad, progresión de la enfermedad y mejorar la calidadde vida. Métodos. Se conformó un panel de especialistas clínicos y metodólogos, quienes identificaron preguntas clínicasrelevantes sobre el diagnóstico y tratamiento del cáncer de mama HER2+. Se desarrolló una búsqueda sistemática deGPC en Medline (PubMed), y en organismos elaboradores y recopiladores. Para la formulación de recomendaciones, elpanel de especialistas discutió la evidencia y elementos del contexto de implementación de la recomendación, siguiendola metodología propuesta por el Ministerio de Salud del Perú. Resultados. Se priorizó nueve preguntas clínicas. Se formulóun total de 25 recomendaciones clínicas. Conclusiones. Se elaboró una GPC basada en evidencias, a través de unproceso sistemático, riguroso y transparente desarrollado por un equipo multidisciplinario.&nbsp

Título, resumen y palabras clave en español e inglés Resumen tomado de la publicación Monográfico con el título: "Edición científica: 25 años de Relieve" Disponible la versión en inglés Se analiza la evolución de la edición científica desde sus orígenes hasta los cambios más recientes, identificando tendencias y problemáticas principales. Se hace un análisis específico de la edición de revistas de Ciencias Sociales en el ámbito hispano y, más en profundidad, en Latinoamérica, identificando las características y perfiles que lo definen como un grupo diferenciado con características y problemáticas propias y con propuestas alternativas de gran interés. ESP

Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these relationships in a paediatric cohort of males with FXS using Buccal Epithelial Cells (BEC). BEC were collected from 25 males with FXS, aged 3 to 17 years and 19 age-matched male controls without FXS. Methylation of 9 CpG sites within the FREE2 region was examined using the EpiTYPER approach. Full Scale IQ (FSIQ) scores of males with FXS were corrected for floor effect using the Whitaker and Gordon (WG) extrapolation method. Compared to controls, children with FXS had significant higher methylation levels for all CpG sites examined (p −7), and within the FXS group, lower FSIQ (WG corrected) was associated with higher levels of DNA methylation, with the strongest relationship found for CpG sites within FMR1 intron 1 (p −5). Applying the WG method to the FXS cohort unmasked significant epi-genotype-phenotype relationships. These results extend previous evidence in blood to BEC and demonstrate FREE2 DNA methylation to be a sensitive epigenetic biomarker significantly associated with the variability in intellectual functioning in FXS.

In a family setting, disagreements between parents and their teenage children are commonplace. This study seeks to measure a teenager’s degree of independence alongside their level of communication with their parents in order to identify the most relevant factors in this relationship and to understand its significance. The study shows that teenagers exhibit a marked tendency to seek increased independence as they develop, although their parents may measure the speed at which their children mature differently. The variables of age, self-esteem, and sex (of both the children and their parents) reveal that conflict between teenagers and their parents is a natural step in the maturation process rather than a symptom of developmental problems.

Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este trabajo se revisan las manifestaciones clínicas de los trastornos asociados al X frágil y el espectro de mutaciones en el gen 1 del retraso mental del X frágil (FMR1), la neurobiología de la proteína del retardo mental X frágil (FMRP) y una visión general de los potenciales blancos terapéuticos y el asesoramiento genético. Desarrollo: Esta enfermedad es causada por una amplificación de las repeticiones CGG (> 200 repeticiones) en la región 5’ no traducida del gen FMR1, que lleva al déficit o ausencia de la proteína FMRP. La FMRP es una proteína de unión al ARN que regula la traducción de varios genes que son importantes en la plasticidad sináptica y la maduración dendrítica. Se cree que expansiones de las repeticiones CGG en el rango de premutación (55-200 repeticiones) generan un aumento en los niveles de mRNA de FMR1, lo que produciría toxicidad neuronal. Esto se manifiesta en problemas del desarrollo tales como autismo y problemas de aprendizaje, así como en patologías neurodegenerativas como el síndrome de temblor/ataxia asociado al X frágil (FXTAS). Conclusiones: Los avances en la identificación de las bases moleculares del SXF pueden servir como modelo para comprender las causas de las enfermedades neuropsiquiátricas y probablemente conducirán al desarrollo de tratamientos cada vez más específicos. Abstract: Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. Development: This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). Conclusions: Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments. Palabras clave: Discapacidad intelectual, Proteína FMRP, Trastornos del espectro autista, Proteínas de unión al RNA, Metilación del ADN, Keywords: Intellectual disability, Fagile X mental retardation protein, Autism spectrum disorders, Ribonucleic acid-binding proteins, Deoxyribonucleic acid methylation

This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: &lt, 44 CGGs), premutation (PM: 55&ndash, 199 CGG) and full mutation (FM alleles &ge, 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an XY sex complement. Normal size (30 CGG), PM (99 CGG) and FM (388&ndash, 1632 CGGs) alleles were detected in Twin 1 (T1) by standard polymerase chain reaction (PCR) and Southern blot testing, while only PM (99 CGG) and FM (672&ndash, 1025) alleles were identified in Twin 2 (T2). At ~5 years, T2 had greater intellectual impairments with a full scale IQ (FSIQ) of 55 and verbal IQ (VIQ) of 59, compared to FSIQ of 62 and VIQ of 78 for T1. This was consistent with the quantitative FMR1 methylation testing, revealing 10% higher methylation at 80% for T2, suggesting that less active unmethylated alleles were present in T2 as compared to T1. AmplideX methylation PCR also identified partial methylation, including an unmethylated NS allele in T2, undetected by standard testing. In conclusion, this report demonstrates significant differences in intellectual functioning between the MZ twins mosaic for NS, PM and FM alleles with partial FMR1 promoter methylation.

In a family setting, disagreements between parents and their teenage children are commonplace. This study seeks to measure a teenager’s degree of independence alongside their level of communication with their parents in order to identify the most relevant factors in this relationship and to understand its signifi cance. The study shows that teenagers exhibit a marked tendency to seek increased independence as they develop, although their parents may measure the speed at which their children mature differently. The variables of age, self-esteem, and sex (of both the children and their parents) reveal that confl ict between teenagers and their parents is a natural step in the maturation process rather than a symptom of developmental problems.

In 2016, Methylation-Specific Quantitative Melt Analysis (MS-QMA) on 3,340 male probands increased diagnostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach. In this study probands from Lineagen (UT, U.S.A.) of both sexes were screened using MS-QMA without sample pooling. The cohorts included: (i) 279 probands with no FXS full mutation (FM: CGG > 200) detected by AmplideX CGG sizing; (ii) 374 negative and 47 positive controls. MS-QMA sensitivity and specificity in controls approached 100% for both sexes. For male probands with no FM detected by standard testing (n = 189), MS-QMA identified abnormal DNA methylation (mDNA) in 4% normal size (NS: FMR1 MS-QMA analysis can cost-effectively screen probands of both sexes for methylation and FM mosaicism that may be missed by standard testing.

Introduction Although Hispanic women have lower rates of breast cancer compared to non-Hispanic whites (NHW), breast cancer remains the leading cause of cancer death among Hispanic women . Some studies suggest that Hispanic women have lower rates of breast cancer screening compared to NHW women, primarily due to lack of health insurance and socioeconomic disadvantages . This study aims to understand the demographic characteristics of Hispanic women in the U.S. who access and utilize the Avon Breast Health Outreach Program (BHOP), and how Hispanic women's mammography history differs by nativity. Avon BHOP supports community-based organizations to conduct education and outreach to over 50,000 low-income and uninsured women each year, linking them to routine breast cancer screening and care. Methods This study analyzed 2014 Client Intake Forms (CIF) for all women aged 40 and older, who were served by BHOP for the first time (∼16,000 women). Descriptive analysis was conducted to summarize their demographic and breast health information, comparing Hispanics with NHW. Multivariate logistic regression was performed to examine the relationship between ethnicity and nativity and having a mammogram in the last two years. Lastly, a sub-analysis among foreign-born (FB) Hispanics only was conducted to assess how the length of time living in the U.S. (number of years) impacts the likelihood of having a mammogram in the last two years. Results Of the first time clients served through BHOP in 2014, 10.4% were US-born Hispanics, 45.2% were FB-Hispanics, and 44.4% were NHW. The majority of FB-Hispanic women were from Mexico (66.2%). FB-Hispanics are less likely to have insurance as compared to US-born Hispanic women (19.7% vs. 39.3%), and less likely to have a high school degree (34.3% vs. 44.8%). After controlling for demographic and socioeconomic variables, FB-Hispanics had significantly greater odds of having a mammogram in the past two years compared to US-born Hispanics (OR=1.6, 95% CI, 1.3-1.9), and NHW women (OR=1.4, 95% CI, 1.2-1.6). FB-Hispanics living in the U.S. for 5+ years had a 1.7 greater odds of having a mammogram in the past 2 years, as compared to recent immigrants living in the U.S. for less than one year (OR=1.7 ;95% CI, 1.1 – 2.7). Discussion In 2014, the percentage of BHOP Hispanic women aged 40+, reporting a mammogram in the last two years (41.1%) was lower than the overall U.S. Hispanic rate (61.4%) , suggesting confirmation that BHOP serves vulnerable and underserved populations, as it aims to do. This study also demonstrates how screening behaviors differ among Hispanic women served through BHOP, with FB-Hispanics having higher mammography utilization rates as compared to their US-born counterparts, with variation seen by the number of years living in the U.S. In conclusion, it is critical to view Hispanics as a heterogeneous group in order to best address their clinical needs. Specifically, the results point to how U.S.-born Hispanic BHOP clients may be at particularly high risk for low breast cancer screening. Citation Format: Gates-Ferris K, Senter L, Aliaga M, Hurlbert M, Ricci C. The effect of Hispanic nativity and ethnicity on mammography use through the Avon breast health outreach program. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P1-09-06.

Objective To determine whether circulating CD4+CD28null and extra-thymic CD4+CD8+ double positive (DP) T cells are independently associated with damage accrual in systemic lupus erythematosus (SLE) patients. Methods This cross-sectional study was conducted between September 2013 and April 2014 in consecutive SLE patients from our Rheumatology Department. CD4+CD28null and CD4+CD8+ DP T-cell frequencies were analyzed by flow-cytometry. The association of damage (SLICC/ACR Damage Index, SDI) and CD4+CD28null and CD4+CD8+ DP T cells was examined by univariable and multivariable Poisson regression models, adjusting for possible confounders. All analyses were performed using SPSS 21.0. Results Patients’ ( n = 133) mean (SD) age at diagnosis was 35.5 (16.8) years, 124 (93.2%) were female; all were mestizo (mixed Caucasian and Amerindian ancestry). Disease duration was 7.4 (6.8) years. The SLE Disease Activity Index was 5.5 (4.2), and the SDI 0.9 (1.2). The percentages of CD4+CD28null and CD4+CD8+ DP T cells were 17.1 (14.4) and 0.4 (1.4), respectively. The percentage of CD4+CD28null and CD4+CD8+ DP T cells were positively associated with a higher SDI in both univariable (rate ratio (RR) 1.02, 95% confidence interval (CI): 1.01–1.03 and 1.17, 95% CI: 1.07–1.27, respectively; p Conclusions In SLE patients, CD4+CD28null and CD4+CD8+ DP T cells are independently associated with disease damage. Longitudinal studies are warranted to determine the predictive value of these associations.

Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but subtelomeric fluorescence in situ hybridisation (Subt-FISH) and subtelomeric multiplex ligation-dependent probe amplification (Subt-MLPA) have been the most frequently used. However, the diagnostic yield of each technique has not been compared. We reviewed the results of SR screening over a ten-year period in Chilean patients with ID/GDD using Subt-FISH and/or Subt-MLPA, compared the diagnostic yield of both tools and reviewed the corresponding literature. A total of 383 cases were included in this study, of which 53.8 % were males. The overall diagnostic yield was 8.9 % between both methods, but Subt-MLPA showed a higher performance than Subt-FISH (p = 0.002). A total of 4,181 patients with ID/GDD have been studied worldwide with Subt-MLPA and other subtelomeric assays, and 244 (5.84 %) had a pathogenic SR. It is estimated that Subt-MLPA may detect 92.6 % of the total cases with SR. The capacity of detecting tandem duplication and other critical regions, as well as the use of two MLPA kits, may explain the higher performance of this tool over Subt-FISH. Therefore, we recommend the use of this subtelomeric method as a cost-effective way to study ID/GDD patients.

Background: The Avon Breast Health Outreach Program (BHOP) supports community-based organizations to provide breast cancer education and outreach, and navigate low income and uninsured women to breast cancer screening and treatment. BHOP organizations collect demographic and health information on clients through a standardized interview using the Clinical Intake Form (CIF). Research demonstrates that transitioning away from paper completion to audio-computer assisted self-interview allows for increased rates of survey completion. Given the advancement of tablet technology, there is significant opportunity for organizations to adopt electronic data collection of clinical information to improve data quality. Objective: This presentation compares rates of CIF completion collected among a low income, diverse client population via two modalities; self-administered paper-based interviews (SAPI) versus electronic collection using iPads. Methods: The CIF is organized into three sections: demographics [12 items], breast health [9 items], and access/use of health services [5 items]. In 2013, 26 BHOP grantees adopted and utilized iPads to administer the CIF with the iSurvey application, after receiving training and technical assistance on tablet usage. Data were restricted to women >=18 years, who self-administered the CIF, English-only, collected between March and December 2013, and among only those grantees who employed both modalities. The BHOP dataset was analyzed to compare CIF completeness across the two modalities. ‘Completeness’ is defined as having a response to every question in the CIF; ‘missing’ is defined as any question that was not responded to or was left blank. Percent of completeness and mean number of missing responses in the CIF overall and by section were analyzed by modality. Odds Ratios (OR) on completeness by modality were also calculated controlling for race, income, education, place of birth and residence. Results: There were 8,004 CIFs analyzed; 2,144 via iPad (27%) and 5,860 via SAPI (73%). Among the iPad mode, 84% of the CIFs had complete data, compared to 47% in the SAPI. The mean number of missing values across the entire CIF was 0.2 via iPad, compared to 1.3 with the SAPI. SAPI variables had ten or more times as much missing data as the iPad variables (e.g., "self-reported breast symptoms" item had 7% missing data in SAPI vs. 1% in iPad). Adjusting for key demographic characteristics, clients were seven times more likely to complete the entire CIF via the iPad as compared to the SAPI [Overall OR= 7.3(6.0-9.0)]. Conclusions: Given the significantly higher rates of CIF completion using iPads, there are important implications for health care organizations to adopt and utilize electronic collection of their health interview data. Future research should study iPads ability to handle high patient volume in less time and with more accuracy compared to SAPI. Discussion: Tablets are a relatively inexpensive option for organizations dedicated to assuring complete data collection. While administrative barriers arise with new technology, the significantly positive aspects of tablet data collection of increased quality and completeness overshadow such burdens. Citation Format: Lindsay Senter, Marvin R Aliaga, Kelly M Opdyke, Kathryn Gates-Ferris, Marc Hurlbert. Improving completeness of client-level data collection in the Avon Breast Health Outreach Program through electronic tablet technology [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P2-12-01.

Background The Avon Breast Health Outreach Program (BHOP) supports community-based organizations to conduct education and outreach to link low-income and uninsured women to routine breast cancer screening and care. Through the Affordable Care Act (ACA), the number of uninsured individuals is expected to decrease as of 2014. While ACA implementation varies by state, BHOP grantees may benefit from understanding the health reform experience in Massachusetts (MA) in 2006 and its impact on the number and proportion of uninsured clients served over time. Objective Describe changes in client volume, health insurance status, and demographics following implementation of health reform in MA to anticipate upcoming impact of ACA on BHOP grantees. Methods Confidential client intake records of continuously funded BHOP grantees from 2004-2012 were analyzed; dataset included females aged 40-64, recruited for breast cancer screening. We compared records for 11,199 clients served by 4 ‘MA’ BHOP programs with 283,720 clients served by 52 ‘control’ agencies funded in the US during the same time period. We examined trends across years in agency-specific rates of health insurance coverage, and client volume adjusting for annual funding. Changes in key demographic characteristics over time were also analyzed. Results The proportion of uninsured MA clients decreased dramatically from 46.6% to 6.2% from 2004-2012, with the biggest decrease occurring in the 3 years following health reform (42.1% to 13.0% from 2006-2009); as compared to only a slight drop among controls from 2004-2012 (69.3% to 67.4%). After adjusting for changes in annual BHOP funding, MA experienced a 74% increase in client volume from 2006-2009, compared with a 15% increase among controls. From 2004-2012, the mean age of clients (53 years) remained stable and similar for MA and controls. The proportion of racial/ethnic minorities served increased considerably in MA, from 62.0% to 77.7%, versus a smaller increase of 60.1% to 63.0% in controls. Likewise, the proportion of clients born outside the US rose from 37.2% to 50.7% in MA, compared with 33.7% to 36.6% among controls. However, the proportion of low-income clients (annual household income Conclusion In BHOP, Massachusetts observed a marked decrease (most noticeably in the 3 years following health reform) in the proportion of uninsured clients served, while overall client volume and the proportion of racial/ethnic minorities and foreign-born women increased. Discussion Historically, many BHOP grantees have relied on funding from the CDC’s National Breast and Cervical Cancer Early Detection Program or charity funds to pay for screening services for uninsured clients. As more clients nationally gain access to health insurance, BHOP grantees need to be prepared for the changing landscape and potential increase in client volume, as experienced by MA. Additionally, grantees should plan to update systems that aid in health insurance eligibility determination, assist with enrollment, and strengthen provider partnerships and referral systems that accept multiple types of insurance. Citation Format: Lindsay Senter, Marvin R Aliaga, Yixin Hu, Kelly Morrison Opdyke, Kathryn Gates-Ferris, Marc Hurlbert. Anticipating ACA's impact on breast cancer screening for medically underserved women reached through the Avon Breast Health Outreach Program: Understanding the Massachusetts experience [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P1-17-01.

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features in FXS males. This study reports on brothers (B1 and B2), aged 5 and 2 years, with autistic features and language delay, but a higher non-verbal IQ in comparison to typical FXS. CGG sizing using AmplideX PCR only identified premutation (PM: 55−199 CGGs) alleles in blood. Similarly, follow-up in B1 only revealed PM alleles in saliva and skin fibroblasts; whereas, an FM expansion was detected in both saliva and buccal DNA of B2. While Southern blot analysis of blood detected an unmethylated FM, methylation analysis with a more sensitive methodology showed that B1 had partially methylated PM alleles in blood and fibroblasts, which were completely unmethylated in buccal and saliva cells. In contrast, B2 was partially methylated in all tested tissues. Moreover, both brothers had FMR1 mRNA ~5 fold higher values than those of controls, FXS and PM cohorts. In conclusion, the presence of unmethylated FM and/or PM in both brothers may lead to an overexpression of toxic expanded mRNA in some cells, which may contribute to neurodevelopmental problems, including elevated autism features.

Background The Avon Breast Health Outreach Program (BHOP) supports community-based organizations to conduct education and outreach to link low-income and uninsured women to routine breast cancer screening. Women under age 40 with breast health issues may not be eligible for low-cost or free screening programs that target women age 40 and older. Objective Describe demographic and health characteristics of clients under age 40 served by Avon BHOP-funded organizations compared with clients of other age groups. Methods We analyzed CY2012 client intake data for females aged 20-75 years (N = 100,418). We conducted univariate and multivariate analysis of client demographics (race/ethnicity, annual household income, education, and geographic setting of client's residence) and health history (health insurance status, personal history of breast cancer, family history of breast cancer, prior breast biopsy, and prior mammogram). Results were stratified by age group. Results Overall, 5.7% (n = 5,719) of female clients were aged 20-39, 36.9% (n = 37,041) were aged 40-49, and 57.4% (57,658) were aged 50-75 years. A majority of clients (64.6%) identified as a racial and/or ethnic minority; this percentage was lowest among women under age 40 (58.8%), and highest among women aged 40-49 (69.2%). Overall, 78.4% of women reported an annual household income of $25,000 or less, with little variation across age groups. Women under age 40 were more likely to report having some college or an associate degree (27.2%) versus 21.3% of clients overall. Nearly two-thirds (64.5%) of clients reported no health insurance, with higher rates among women aged 20-39 (73.1%) and 40-49 (70.8%) compared with women aged 50 and older (59.6%). A majority of clients reported living in an urban setting (57.1%) or rural areas (31.4%); women under age 40 were more likely to report living in rural (40.8%) or frontier areas (4.6%). Current symptoms (lump, nipple discharge, rash, or unusual pain) were reported by 40.1% of women under age 40, compared with 12.0% of clients overall. Women aged 20-39 were less likely to have ever had a mammogram (34.8% versus 85.8% of all clients). However, white clients were almost twice as likely to have had a mammogram before the age of 40, even when controlling for breast symptoms and a family history of breast cancer. Conclusion Avon BHOP clients under age 40 were more likely to be white, to reside in rural areas, and to be uninsured despite higher levels of education. More than 40% of clients under age 40 reported current breast symptoms. Discussion Characteristics of Avon BHOP clients under age 40 are influenced by the location and target population of funded organizations. Low-income and uninsured women under age 40 may require specialized outreach and education to ensure timely access to breast cancer screening services. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P5-13-11.

Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity.

Mosaicism for FMR1 premutation (PM: 55–199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less severe fragile X syndrome (FXS) phenotype and fragile X associated tremor/ataxia syndrome (FXTAS)—a late onset neurodegenerative disorder. We describe a 38 year old male carrying a 100% methylated FM detected with Southern blot (SB), which is consistent with complete silencing of FMR1 and a diagnosis of fragile X syndrome. However, his formal cognitive scores were not at the most severe end of the FXS phenotype and he displayed tremor and ataxic gait. With the association of UFM with FXTAS, we speculated that his ataxia might be related to an undetected proportion of UFM alleles. Such UFM alleles were confirmed by more sensitive PCR based methylation testing showing FM methylation between 60% and 70% in blood, buccal, and saliva samples and real-time PCR analysis showing incomplete silencing of FMR1. While he did not meet diagnostic criteria for FXTAS based on MRI findings, the underlying cause of his ataxia may be related to UFM alleles not detected by SB, and follow-up clinical and molecular assessment are justified if his symptoms worsen.

CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a ∼80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the normal range, the methylation and CGG sizing results are consistent with the diagnosis of concurrent FXS and probable FXTAS. The demonstrated presence of unmethylated FM alleles would explain the manifestation of milder than expected cognitive and behavioral impairments and early onset of cerebellar ataxia. Our case suggests that individuals with FXS, who manifest symptoms of FXTAS, may benefit from more detailed laboratory testing. © 2016 Wiley Periodicals, Inc.

BACKGROUND FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal ( METHODS We used methylation-specific quantitative melt analysis (MS-QMA) to determine the prevalence of cryptic FM alleles in 2 independent cohorts of male patients (994 from Chile and 2392 from Australia) referred for FXS testing from 2006 to 2013. All MS-QMA–positive cases were retested with commercial triplet primed PCR, methylation-sensitive Southern blot, and a methylation-specific EpiTYPER-based test. RESULTS All 38 FMs detected with the standard 2-step protocol were detected with MS-QMA. However, MS-QMA identified methylation mosaicism in an additional 15% and 11% of patients in the Chilean and Australian cohorts, respectively, suggesting the presence of a cryptic FM. Of these additional patients, 57% were confirmed to carry cryptic expanded alleles in blood, buccal mucosa, or saliva samples. Further confirmation was provided by identifying premutation (CGG 55–199) alleles in mothers of probands with methylation-sensitive Southern blot. Neurocognitive assessments showed that low-level mosaicism for cryptic FM alleles was associated with cognitive impairment or autism. CONCLUSIONS A substantial number of mosaic FM males who have cognitive impairment or autism are not diagnosed with the currently recommended 2-step testing protocol and can be identified with MS-QMA as a first-line test.

En este artículo se presenta un simulador desarrollado que permite ejecutar diferentes planificadores de Tiempo Real, como el algoritmo de planificación cíclica, Algoritmo de la Razón Monótona (RMA) y EDF (Earliest Deadline First) para un conjunto de procesos con unos datos dados y muestra los resultados obtenidos. Mediante este simulador se facilita a los alumnos el aprendizaje de los algoritmos de planificación., This paper presents a simulator that has been developed to allow the execution of scheduling algorithms such as the Cyclic Non­preemptive Executive, Rate­monotonic scheduling (RMS) and Earliest Deadline First (EDF) for a given set of processes with different values and the simulator displays the results. With this simulator, students are able to learn about scheduling algorithms., Universidad de Granada: Departamento de Arquitectura y Tecnología de Computadores; Vicerrectorado para la Garantía de la Calidad.

We have used the Rayner & Best (1989) smooth tests of goodness-of-fit to studythe Gaussianity of the Very Small Array (VSA) data. These tests are designed to besensitive to the presence of ‘smooth’ deviations from a given distribution, and areapplied to the data transformed into normalised signal-to-noise eigenmodes. In a pre-vious work, they have been already adapted and applied to simulated observations ofinterferometric experiments. In this paper, we extend the practical implementation ofthe method to deal with mosaiced observations, by introducing the Arnoldi algorithm.This method permits us to solve large eigenvalue problems with low computationalcost.Out of the 41 published VSA individual pointings dedicated to cosmological(CMB) observations, 37 are found to be consistent with Gaussianity, whereas fourpointings show deviations from Gaussianity. In two of them, these deviations can beexplained as residual systematic effects of a few visibility points which, when corrected,have a negligible impact on the angular power spectrum. The non-Gaussianity foundin the other two (adjacent) pointings seems to be associated to a local deviation ofthe power spectrum of these fields with respect to the common power spectrum of thecomplete data set, at angular scales of the third acoustic peak (l = 700 − 900). Noevidence of residual systematics is found in this case, and unsubstracted point sourcesare not a plausible explanation either. If those visibilities are removed, the differencesof the new power spectrum with respect to the published one only affect three bins.A cosmological analysis based on this new VSA power spectrum alone shows no dif-ferences in the parameter constraints with respect to our published results, except forthe physical baryon density, which decreases by 10 percent.Finally, the method has been also used to analyse the VSA observations in theCorona Borealis supercluster region. Our method finds a clear deviation (99.82%) withrespect to Gaussianity in the second-order moment of the distribution, and which cannotbe explainedassystematiceffects.A detailed studyshowsthatthe non-Gaussianityis produced in scales of l ≈ 500, and that this deviation is intrinsic to the data (inthe sense that can not be explained in terms of a Gaussian field with a differentpower spectrum). This result is consistent with the Gaussianity studies in the CoronaBorealis data presented in G´enova-Santoset al. (2005), which show a strong decrementwhich cannot be explained as primordial CMB.

We adapt the smooth tests of goodness of fit developed by Rayner & Best (1989, 1990) to the study of the non-Gaussianity of interferometric observations of the cosmic microwave background (CMB). The interferometric measurements (visibilities) are transformed into signal-to-noise eigenmodes, and then the method is applied directly in Fourier space. This transformation allows us to perform the analysis in different subsets of eigenmodes according to their signal-to-noise level. The method can also deal with non-uniform or incomplete coverage of the UV plane. We explore here two possibilities: we analyse either the real and imaginary parts of the complex visibilities (Gaussianly distributed under the Gaussianity hypothesis) or their phases (uniformly distributed under the Gaussianity hypothesis). The power of the method in discriminating between Gaussian and non-Gaussian distributions is studied by using several kinds of non-Gaussian simulations. On the one hand, we introduce a certain degree of non-Gaussianity directly into the Fourier space using the Edgeworth expansion, and afterwards the desired correlation is introduced. On the other hand, we consider interferometric observations of a map with topological defects (cosmic strings). To these previous non-Gaussian simulations we add different noise levels and quantify the required signal-to-noise ratio necessary to achieve a detection of these non-Gaussian features. Finally, we have also studied the ability of the method to constrain the socalled nonlinear coupling constant fNL using χ 2 simulations. The whole method is illustrated here by application to simulated data from the Very Small Array interferometer.

Background The Avon Breast Health Outreach Program (BHOP) supports community-based organizations to conduct education and outreach to link low-income and uninsured women to routine breast cancer screening. These organizations capture health and demographic information for clients screened as a result of outreach using a standardized Client Intake Form (CIF). Prior research demonstrated higher rates of overall form completion for data collected via audio-computer assisted self-interview (ACASI) versus face-to-face or self-administered paper interview. Advances in tablet computer technology provide additional options and potential advantages for collecting client-level data electronically. Objective To determine if electronic CIF data collection via tablet is a practical alternative to paper-based data collection, and assess the relative administrative burden, advantages and disadvantages for Avon BHOP-funded organizations for each method. Methods English and Spanish copies of the CIF were created in iSurvey, an application developed for iPad. Currently funded grantees (n = 101) were invited to apply for the pilot; 34 of 38 applicants in 24 states were selected, with priority given to organizations with a majority of English- or Spanish-speaking clients, and greater annual client volume. Pilot sites received a tablet pre-loaded with iSurvey. Grantees received web-based training and individual technical assistance on tablet use, data collection and submission procedures. Avon BHOP staff conducted telephone follow-up to assess organizations’ feedback concerning acceptability to program staff and clients of CIF data collection using the tablet, and effects on data quality and administrative processes relative to paper CIFs. Quality assurance was conducted on all CIFs submitted via iSurvey to identify duplicate or invalid records. Results 948 CIFs (838 English, 110 Spanish) were submitted using the tablets during a two month period from March 21 to May 21, 2013. Five organizations submitted fewer than 5 CIFs, eight did not submit any CIFs, and three organizations discontinued participation; their tablets were reassigned to different organizations. Grantees using the tablets for CIF data collection found the program easy to use and data entry efficient. Challenges reported included difficulties integrating the tablets into clinic flow, lack of familiarity with tablet technology among clients and staff, and an inability to review data for errors or completeness prior to electronic submission. Conclusion CIF data collection via tablet is an option for electronic data capture for some organizations. However, many organizations reported challenges in effectively integrating this new technology into existing clinic flow and administrative processes. Discussion While tablets are a relatively inexpensive and practical option for electronic client data collection in some settings, some organizations reported a preference for paper forms. Many of the identified administrative barriers may be resolved through the provision of technical assistance and capacity building support to grantee organizations. Future analysis may focus on the completeness of data collected via tablet versus paper. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P6-08-15.

In this work, goodness-of-fit tests are adapted and applied to CMB maps to detect possible non-Gaussianity. We use Shapiro-Francia test and two Smooth goodness-of-fit tests: one developed by Rayner and Best and another one developed by Thomas and Pierce. The Smooth tests test small and smooth deviations of a prefixed probability function (in our case this is the univariate Gaussian). Also, the Rayner and Best test informs us of the kind of non-Gaussianity we have: excess of skewness, of kurtosis, and so on. These tests are optimal when the data are independent. We simulate and analyse non-Gaussian signals in order to study the power of these tests. These non-Gaussian simulations are constructed using the Edgeworth expansion, and assuming pixel-to-pixel independence. As an application, we test the Gaussianity of the MAXIMA data. Results indicate that the MAXIMA data are compatible with Gaussianity. Finally, the values of the skewness and kurtosis of MAXIMA data are constrained by |S| \le 0.035 and |K| \le 0.036 at the 99% confidence level., New Astronomy Reviews, in press

Non-linear evolution of cosmological energy density fluctuations triggers deviations from Gaussianity in the temperature distribution of the cosmic microwave background. A method to estimate these deviations is proposed. N-body simulations - in aCDM cosmology - are used to simulate the strongly non-linear evolution of cosmological structures. It is proved that these simulations can be combined with the potential approximation to calculate the statistical moments of the CMB anisotropies produced by non-linear gravity. Some of these moments are computed and the resulting values are different from those corresponding to Gaussianity.

This paper is concerned with small angular scale experiments for the observation of cosmic microwave background anisotropies. In the absence of beam, the effects of partial coverage and pixelisation are disentangled and analyzed (using simulations). Then, appropriate maps involving the CMB signal plus the synchrotron and dust emissions from the Milky Way are simulated, and an asymmetric beam --which turns following different strategies-- is used to smooth the simulated maps. An associated circular beam is defined to estimate the deviations in the angular power spectrum produced by beam asymmetry without rotation and, afterwards, the deviations due to beam rotation are calculated. For a certain large coverage, the deviations due to pure asymmetry and asymmetry plus rotation appear to be very systematic (very similar in each simulation). Possible applications of the main results of this paper to data analysis in large coverage experiments --as PLANCK-- are outlined., 13 pages, 9 figures, to appear in A&A

Se revisa la evolución de la Revista Electrónica de Investigación y Evaluación Educativa (RELIEVE) desde su nacimiento. Se analizan igualmente las características y tendencias de las revistas electrónicas. Se sugieren algunas modificaciones para RELIEVE.

Se revisan lo cambios en la evolución de la Revista Electrónica de Investigación y Evaluación Educativa (RELIEVE) durante el último año.

Se revisa elconcepto y los criterios propuestos en la literatura para establecer que unarevista es 'internacional'. Se aplican posteriormente estos criterios alanálisis de las características de RELIEVE (la Revista ELectrónica de Investigación y EValuación Educativa). Los datos analizados permiten concluir que RELIEVE es plenamente una revista internacional.

Se analizan diversos factores que determinan la repercusión científica de una revista académica. Los datos indican que tanto la calidad reconocida como las encuestas de opinión entre académicos, las demandas de información que atrae, citas que recibe, difusión, audiencia o capacidad de atracción denotan una alta repercusión de RELIEVE.

Se plantean los principales procesos y proyectos de RELIEVE planteados para la mejora de la calidad editorial de la revista en la nueva etapa, tras la reestructuración del equipo gestor. Entre los retos más relevantes destacan la automatización de la gestión de la revista, la ampliación de su difusión internacional con la edición bilingu?e de los artículos y la edición colegiada mediante Editores de Sección expertos en los diversos ámbitos de contenido de la revista.

OBJECTIVE The aim of this study was to determine whether the proportions of naive and memory CD4(+) T cell are independently associated with the metabolic syndrome (MetS) in patients with SLE. METHODS This cross-sectional study was conducted in SLE patients seen at our rheumatology department between September 2013 and April 2014. CD4(+) T cell subpopulations were examined by flow cytometry. The association of MetS and CD4(+) T cell subpopulations was examined by Mann-Whitney U-test and by multivariable analysis, adjusting for all possible confounding variables. RESULTS One hundred and seventeen patients were evaluated. Their mean age was 44.6 years (S.D. 12.6), 109 (93.2%) were female and all patients were Mestizo (mixed Caucasian and Amerindian ancestry). Fifty-two patients (44.4%) presented with MetS. Disease duration was 7.6 years (S.D. 6.8). The percentage of naive CD4(+) T cells was 25.0 (S.D. 12.7) and memory CD4(+) T cells was 66.7 (S.D. 13.2) and the memory:naive CD4(+) T cell ratio was 4.3 (S.D. 5.6). In multivariable analysis, the percentage of naive CD4(+) T cells was negatively associated with the presence of MetS [odds ratio (OR) 0.959 (95% CI 0.923, 0.997), P = 0.033], whereas the percentage of memory CD4(+)T cells and the memory:naive CD4(+) T cell ratio were positively associated with its presence [OR 1.040 (95% CI 1.003, 1.078), P = 0.031 and OR 1.238 (95% CI 1.041, 1.472), P = 0.016, respectively]. CONCLUSION In the SLE patients studied, a lower percentage of naive CD4(+) T cells, a higher percentage of memory CD4(+) T cells and the memory:naive CD4(+) T cell ratio were independently associated with the presence of MetS. This association could reflect the impact of immunosenescence among SLE patients with cardiovascular morbidity.

Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. Development: This disorder is caused by expansion of the CGG repeat (>200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55–200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). Conclusions: Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments. Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este trabajo se revisan las manifestaciones clínicas de los trastornos asociados al X frágil y el espectro de mutaciones en el gen 1 del retraso mental del X frágil (FMR1), la neurobiología de la proteína del retardo mental X frágil (FMRP) y una visión general de los potenciales blancos terapéuticos y el asesoramiento genético. Desarrollo: Esta enfermedad es causada por una amplificación de las repeticiones CGG (> 200 repeticiones) en la región 5’ no traducida del gen FMR1, que lleva al déficit o ausencia de la proteína FMRP. La FMRP es una proteína de unión al ARN que regula la traducción de varios genes que son importantes en la plasticidad sináptica y la maduración dendrítica. Se cree que expansiones de las repeticiones CGG en el rango de premutación (55-200 repeticiones) generan un aumento en los niveles de mRNA de FMR1, lo que produciría toxicidad neuronal. Esto se manifiesta en problemas del desarrollo tales como autismo y problemas de aprendizaje, así como en patologías neurodegenerativas como el síndrome de temblor/ataxia asociado al X frágil (FXTAS). Conclusiones: Los avances en la identificación de las bases moleculares del SXF pueden servir como modelo para comprender las causas de las enfermedades neuropsiquiátricas y probablemente conducirán al desarrollo de tratamientos cada vez más específicos. Keywords: Intellectual disability, Fagile X mental retardation protein, Autism spectrum disorders, Ribonucleic acid-binding proteins, Deoxyribonucleic acid methylation, Palabras clave: Discapacidad intelectual, Proteína FMRP, Trastornos del espectro autista, Proteínas de unión al RNA, Metilación del ADN

Resumen basado en el de la publicación Título, resumen y palabras clave también en inglés Disponible versión en inglés RELIEVE alcanza los 20 años, lo que supone un hito en la edición electrónica y en el acceso abierto a la investigación educativa. Se revisan algunos de los logros conseguidos y las perspectivas de futuro, a la vez que se analizan algunas circunstancias de los procesos de evaluación de revistas. ESP

The European Reference Index for the Humanities (ERIH) has been proposed (and officially recognized in our country) as a European alternative to the dominant indices that have a known Anglo-Saxon bias. The aim is to raise the visibility of European research in the Humanities and in various areas of the Social Sciences, in order to improve coverage of the cultural and linguistic diversity of our continent. We analyze some of the circumstances affecting the results of the recently updated list of ERIH (´revised´), with special emphasis on the field of education. The results demonstrate the need to improve the criteria for entry into the index (completeness and quality) if ERIH is to achieve its goals.El European Reference Index for the Humanities (ERIH) se ha propuesto (y reconocido oficialmente en nuestro país) como una alternativa europea al predominio de índices y bases de datos que presentan un conocido sesgo anglosajón. Se pretende con ello dar una mayor visibilidad a la investigación europea en Humanidades y en algunas Ciencias Sociales. Se espera cubrir mejor la diversidad cultural y lingüística del viejo continente. Analizamos algunas de las circunstancias que determinan los resultados obtenidos en la lista recientemente actualizada de ERIH (‘revisada’), haciendo especial hincapié en el ámbito educativo. Los resultados muestran la necesidad de mejorar los criterios de entrada en el índice (exhaustividad y calidad) si ERIH quiere alcanzar sus objetivos.

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The ICT competences of teachers are a key variable for ICT integration in school. This paper presents a framework of indicators of competence in relation to two dimensions from a MIMIC model: the first one concerns technological competences and the second one has to do with pedagogical competences. The model includes the definition of a specific relationship between these dimensions and also the effects of a set of relevant factors: personal (gender, age and frequency of computer use) and contextual (type of educational institution, educational stage and access to computer classroom). The information was collected through a questionnaire answered by a sample of 868 teachers of elementary and secondary education in the Comunidad Valenciana. The results confirm a stable relational structure between both dimensions of competence, where the technological competence influences the pedagogical competence. Also, the model shows the influences of contextual and personal variables on these dimensions. The model used points the urgent need to study the dimensions related to ICT in education from a more complex perspective that can more clearly show those relationships.

We analyze current normalization trends of authors' names. We review the advantages of using a single bibliographic name as well as the most common naming recommendations so that each author can choose which to follow. Analizamos las tendencias actuales sobre normalización de los nombres de autores. Se revisan las ventajas de utilizar un nombre bibliográfico único y se revisan las recomendaciones más habituales para que se elijan los de cada autor.