33 research outputs found
Lectura y escritura en niños con síndrome x frágil: estrategias de intervención
El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria. Se caracteriza por un fenotipo físico y conductual muy específicos. El SXF está causado por una mutación del gen FMR1 situado en el cromosoma X, locus Xq27.3. La mutación del gen produce un número anómalo de repeticiones de la tripleta CGG (Citosina- Guanina- Guanina). El análisis del SXF representa un buen modelo para determinar las relaciones entre genes y conducta. El área de la lectura y la escritura en la población X frágil muestra demasiadas zonas oscuras. Los principales problemas de los SXF con la lectura y la escritura tienen su origen en alteraciones del lenguaje y en dificultades motoras y de integración sensorial. Nuestro trabajo pretende ampliar y sistematizar de manera orgánica algunos de los aspectos que consideramos fundamentales para mejorar la práctica educativa y la restauración de las deficiencias lectoras. En esta línea de actuación destacamos tanto estrategias metodológicas como propuestas programáticas que conviene explorar para conocer su valor pedagógico y su eficacia práctica
Development of a Knowledge Base for smart screening of language disorders in primary care
Monitoring of neuro-evolutive development from birth until the age of six is a decisive factor in a child's quality of life. Early detection of development disorders in early childhood can facilitate necessary diagnosis and/or treatment. Primary-care pediatricians play a key role in early detection of development alterations as they can undertake the preventive and therapeutic actions necessary in the interest of a child's optimal development. The focus of this research paper is the construction of a Knowledge Base for smart screening aimed to assist pediatricians in processes of early referral in language disorders. The proposed model provides health professionals with a decision-making tool that supports referral processes. In this way, essential diagnostic and/or therapeutic actions are triggered for a comprehensive individual development. The resulting system was developed on the basis of an analysis and verification of 21 cases of children with language disorders
Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world
Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic.
Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality.
Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States.
Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis.
Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection
Search for anomalous production of events with three or more leptons in pp collisions at √s = 8TeV
Published by the American Physical Society under the terms of the Creative Commons Attribution 3.0 License. Further distribution of this work must maintain attribution to the author(s) and the published articles title, journal citation, and DOI.A search for physics beyond the standard model in events with at least three leptons is presented. The data sample, corresponding to an integrated luminosity of 19.5fb-1 of proton-proton collisions with center-of-mass energy s=8TeV, was collected by the CMS experiment at the LHC during 2012. The data are divided into exclusive categories based on the number of leptons and their flavor, the presence or absence of an opposite-sign, same-flavor lepton pair (OSSF), the invariant mass of the OSSF pair, the presence or absence of a tagged bottom-quark jet, the number of identified hadronically decaying τ leptons, and the magnitude of the missing transverse energy and of the scalar sum of jet transverse momenta. The numbers of observed events are found to be consistent with the expected numbers from standard model processes, and limits are placed on new-physics scenarios that yield multilepton final states. In particular, scenarios that predict Higgs boson production in the context of supersymmetric decay chains are examined. We also place a 95% confidence level upper limit of 1.3% on the branching fraction for the decay of a top quark to a charm quark and a Higgs boson (t→cH), which translates to a bound on the left- and right-handed top-charm flavor-violating Higgs Yukawa couplings, λtcH and λctH, respectively, of |λtcH|2+|λctH|2<0.21
Lectura y escritura en niños con síndrome x frágil: estrategias de intervención
Syndrome X fragile (SXF) is the most common cause of inherited intellectual disability. It’s characterized by a very specific physical and behavioral phenotype. The SXF is caused by a mutation in the FMR1 gene located on chromosome X, locus Xq27.3. Gene mutation causes an abnormal number of repetitions of the triple CGG (cytosine- guanine- guanine). The SXF analysis represents a good model to determine the relationship between genes and behavior. The area of reading and writing in the fragile X population samples too many dark areas. The main problems of the SXF with reading and writing have their origin in disorders of language and motor difficulties and sensory integration. Our work aims to expand and systematize organically some aspects that we consider fundamental for improving educational practice and restore reading deficiencies. In this line of action we highlight both methodological strategies and programmed proposals which should be explored to learn about their educational value and practical effectiveness.El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria. Se caracteriza por un fenotipo físico y conductual muy específicos. El SXF está causado por una mutación del gen FMR1 situado en el cromosoma X, locus Xq27.3. La mutación del gen produce un número anómalo de repeticiones de la tripleta CGG (Citosina- Guanina- Guanina). El análisis del SXF representa un buen modelo para determinar las relaciones entre genes y conducta. El área de la lectura y la escritura en la población X frágil muestra demasiadas zonas oscuras. Los principales problemas de los SXF con la lectura y la escritura tienen su origen en alteraciones del lenguaje y en dificultades motoras y de integración sensorial. Nuestro trabajo pretende ampliar y sistematizar de manera orgánica algunos de los aspectos que consideramos fundamentales para mejorar la práctica educativa y la restauración de las deficiencias lectoras. En esta línea de actuación destacamos tanto estrategias metodológicas como propuestas programáticas que conviene explorar para conocer su valor pedagógico y su eficacia práctica
Lectura y escritura en niños con síndrome x frágil: estrategias de intervención
El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria. Se caracteriza por un fenotipo físico y conductual muy específicos. El SXF está causado por una mutación del gen FMR1 situado en el cromosoma X, locus Xq27.3. La mutación del gen produce un número anómalo de repeticiones de la tripleta CGG (Citosina- Guanina- Guanina). El análisis del SXF representa un buen modelo para determinar las relaciones entre genes y conducta. El área de la lectura y la escritura en la población X frágil muestra demasiadas zonas oscuras. Los principales problemas de los SXF con la lectura y la escritura tienen su origen en alteraciones del lenguaje y en dificultades motoras y de integración sensorial. Nuestro trabajo pretende ampliar y sistematizar de manera orgánica algunos de los aspectos que consideramos fundamentales para mejorar la práctica educativa y la restauración de las deficiencias lectoras. En esta línea de actuación destacamos tanto estrategias metodológicas como propuestas programáticas que conviene explorar para conocer su valor pedagógico y su eficacia práctica
Necesidades educativas del alumnado con síndrome X frágil
Este recurso analiza el síndrome X frágil, un trastorno genético hereditario. Se divide en cinco capítulos. El primero aborda los aspectos generales del síndrome X frágil, causas, cómo se detecta, manifestaciones clínicas generales y neurológicas, tratamiento general, farmacológico, psicopedagógico y conductual. El segundo, desarrolla los principios generales de tratamiento. El tercero se dedica al ocio en las personas con el síndrome. El cuarto se centra en el entorno familiar y, finalmente, el quinto se dedica a las asociaciones del síndrome X frágil. Se completa con cinco anexos que incluyen una relación de asociaciones de la Federación Española Síndrome X Frágil, direcciones de Internet de asociaciones del síndrome X frágil en el mundo, listado de organismos centrales y entidades dependientes de la Administración del Estado y de ámbito autonómico y provincial. Por último, incluye un listado de centros de atención a personas con discapacidad psíquica en España.MadridES
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials
Primeras Jornadas de Investigación Encuentro y Reflexión
Acta de congresoPrimeras Jornadas de investigación organizadas por la Secretaría de Investigación de la Facultad de Arquitectura, Urbanismo y Diseño durante el año 2002