Mudanças no perfil funcional de pacientes con patologia psiquiátrica resistente submetidos a neurocirurgia funcional estereotáxica

Con el objetivo de evaluar los resultados de la Neurocirugía Funcional Estereotáctica (NFE) sobre el perfil funcional de los pacientes diagnosticados con Patología Psiquiátrica Resistente (PPR), se realizó un diseño pre/post tratamiento. 13 pacientes fueron evaluados ( = 31 ± 8 años): siete mujeres diagnosticadas con algún Trastorno de la Conducta Alimentaria Resistente (TCAR); tres mujeres diagnosticadas con Trastornos Resistentes Obsesivo Compulsivo y Depresivo (TOC y DR) y tres pacientes (dos mujeres y un hombre) diagnosticados con Depresión Resistente (DR). A estos pacientes se les aplicó la Escala de funcionamiento del paciente Eje K, la cual consta de siete subescalas, y una Escala de Evaluación de la Actividad Global (EAG) antes del tratamiento y después de éste (seis meses posteriores a la NFE). Todos los grupos diagnósticos y el total de los pacientes evaluados presentaron cambios clínicos positivos; sin embargo, sólo el grupo de TCAR mostró importantes cambios clínicos de mejoría en el perfil de funcionamiento, siendo esta diferencia estadísticamente significativa (pre Md = 56; post Md = 84; z= - 2.36, p <0.05). Con la evidencia obtenida se observó que la NFE representa una opción terapéutica emergente efectiva orientada a disminuir el sufrimiento de los pacientes con PPR, así como a mejorar el nivel de funcionamiento global y por ende su calidad de vida. Todos los pacientes del estudio presentaban una condición de resistencia a tratamientos convencionales indicados, la cual había sido documentada por un equipo interdisciplinario experto.Con o objetivo de avaliar os resultados da Neurocirurgía Funcional Estereotáxica (NFE) sobre o perfil funcional dos pacientes diagnosticados com Patologia Psiquiátrica Resistente (PPR), realizou-se um desenho pré/pós tratamento. 13 pacientes foram avaliados ( = 31 ± 8 anos): sete mulheres diagnosticadas com algum Transtorno da Conduta Alimentar Resistente (TCAR); três mulheres diagnosticadas com Transtornos Resistentes Obsessivo Compulsivo e Depressivo (TOC e DR) e três pacientes (duas mulheres e um homem) diagnosticados com Depressão Resistente (DR). A estes pacientes foi aplicada a Escala de funcionamento do paciente Eixo K, a qual consta de sete sub-escalas, e uma Escala de Avaliação da Atividade Global (EAG) antes do tratamento e depois dele (seis meses posteriores à NFE). Todos os grupos diagnósticos e o total dos pacientes avaliados apresentaram mudanças clínicas positivas; porém, só o grupo de TCAR mostrou importantes mudanças clínicas de melhoria no perfil de funcionamento, sendo esta diferença estatisticamente significativa (pré Md= 56; pós Md= 84; z= - 2.36, p <0.05). Com a evidência obtida observou-se que a NFE representa uma opção terapêutica emergente efetiva orientada a diminuir o sofrimento dos pacientes com PPR, bem como a melhorar o nível de funcionamento global e portanto sua qualidade de vida. Todos os pacientes do estudo apresentavam uma condição de resistência a tratamentos convencionais indicados, a qual havia sido documentada por uma equipe interdisciplinar de especialistas.In order to evaluate the results of the Stereotactic Functional Neurosurgery (SFN) on the functional profile of patients diagnosed with Resistant Psychiatric Pathology (RPP), a pre / post treatment design was performed. Thirteen patients were assessed ( = 31 ± 8 years): seven women diagnosed with some type of Resistant Eating Disorder (RED); three women diagnosed with Resistant Obsessive Compulsive Disorder and Resistant Depression (TOC and RD), and three patients (two women and one man) diagnosed with Resistant Depression (RD). The Patient's Functioning Scale, axis K, consisting of seven subscales, and the Assessment of Global Activity Scale (AGAS) were applied before and after treatment (6 months after FSN). All diagnostic groups and all the patients assessed showed positive clinical changes. However, only the RED group showed important clinical improvement in the performance profile with a statistically significant difference (pre Md = 56, Md = 84 post , z = - 2.36, p <0.05). With the evidence obtained it was noted that SFN represents an effective therapeutic option aimed at reducing the suffering of patients with RPP and improve their overall level of functioning and therefore their quality of life. All patients in the study had a condition indicating resistance to conventional treatments which had been documented by an expert multidisciplinary team

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Cambios en el perfil funcional de pacientes con patología psiquiátrica resistente sometidos a neurocirugía funcional estereotáctica.

In order to evaluate the results of the Stereotactic Functional Neurosurgery (SFN) on the functional profile of patients diagnosed with Resistant Psychiatric Pathology (RPP), a pre / post treatment design was performed. Thirteen patients were assessed ( x = 31 ± 8 years): seven women diagnosed with some type of Resistant Eating Disorder (RED); three women diagnosed with Resistant Obsessive Compulsive Disorder and Resistant Depression (TOC and RD), and three patients (two women and one man) diagnosed with Resistant Depression (RD). The Patient’s Functioning Scale, axis K, consisting of seven subscales, and the Assessment of Global Activity Scale (AGAS) were applied before and after treatment (6 months after FSN). All diagnostic groups and all the patients assessed showed positive clinical changes. However, only the RED group showed important clinical improvement in the performance profile with a statistically significant difference (pre Md = 56, Md = 84 post, z = - 2.36, p &lt;0.05). With the evidence obtained it was noted that SFN represents an effective therapeutic option aimed at reducing the suffering of patients with RPP and improve their overall level of functioning and therefore their quality of life. All patients in the study had a condition indicating resistance to conventional treatments which had been documented by an expert multidisciplinary team.Con el objetivo de evaluar los resultados de la Neurocirugía Funcional Estereotáctica (NFE) sobre el perfil funcional de los pacientes diagnosticados con Patología Psiquiátrica Resistente (PPR), se realizó un diseño pre/post tratamiento. 13 pacientes fueron evaluados ( x = 31 ± 8 años): siete mujeres diagnosticadas con algún Trastorno de la Conducta Alimentaria Resistente (TCAR); tres mujeres diagnosticadas con Trastornos Resistentes Obsesivo Compulsivo y Depresivo (TOC y DR) y tres pacientes (dos mujeres y un hombre) diagnosticados con Depresión Resistente (DR). A estos pacientes se les aplicó la Escala de funcionamiento del paciente Eje K, la cual consta de siete subescalas, y una Escala de Evaluación de la Actividad Global (EAG) antes del tratamiento y después de éste (seis meses posteriores a la NFE). Todos los grupos diagnósticos y el total de los pacientes evaluados presentaron cambios clínicos positivos; sin embargo, sólo el grupo de TCAR mostró importantes cambios clínicos de mejoría en el perfil de funcionamiento, siendo esta diferencia estadísticamente significativa (pre Md = 56; post Md = 84; z= - 2.36, p &lt;0.05). Con la evidencia obtenida se observó que la NFE representa una opción terapéutica emergente efectiva orientada a disminuir el sufrimiento de los pacientes con PPR, así como a mejorar el nivel de funcionamiento global y por ende su calidad de vida. Todos los pacientes del estudio presentaban una condición de resistencia a tratamientos convencionales indicados, la cual había sido documentada por un equipo interdisciplinario experto

Compilación de Proyectos de Investigacion de 1984-2002

Instituto Politecnico Nacional. UPIICS

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

International audienceDUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

International audienceDUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

DUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

International audienceDUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals