Caracterización clínica y molecular del síndrome de Rett: elucidar los casos no resueltos

[spa] El objetivo principal de la presente tesis doctoral es la mejora en el diagnóstico genético y la posibilidad de dar un pronóstico sobre desarrollo de la enfermedad en pacientes con RTT/RTT-like. Asimismo, profundizar en el estudio de pacientes sin diagnóstico genético para poder determinar la etiología de su clínica. Los objetivos concretos son: 1. Análisis de variantes en genes relacionados con la clínica RTT y RTT-like en una amplia serie de pacientes analizados mediante NGS: valorar las distintas metodologías usadas para el diagnóstico molecular e identificar las causas que puedan explicar el fenotipo de las pacientes tanto en genes conocidos como en genes nuevos. 2. Caracterización clínica y molecular de pacientes con grandes deleciones en MECP2: Análisis en profundidad de los mecanismos que conducen a los grandes reordenamientos en MECP2 e intentar determinar una correlación entre los tamaños de las deleciones y la clínica que desarrollan las pacientes. 3. Análisis de correlaciones genotipo-fenotipo entre RTT y RTT-like: estudio de los genes alterados asociados a otras patologías para establecer una posible relación entre pacientes RTT y RTT-like, así como estudiar las vías que puedan conectar a los nuevos genes asociados con clínica RTT-like a las vías asociadas a MECP2. 4. Caracterización funcional de los hallazgos detectados por NGS de mutaciones en genes sin asociación fenotípica que pudieran explicar la clínica de las pacientes.[eng] Rett syndrome is a genetically based neurodevelopmental disorder that is included in the rare disease group due to its low incidence in the population. However, this disease is the second cause of severe intellectual disability in women after Down syndrome. This disorder was first described in 1966 by Dr. Andreas Rett, although it was not until 1963 that the Swedish pediatrician Hagberg defined it as Rett syndrome. Nevertheless, it was not until 20 years after the genetic cause behind the syndrome, the MECP2 gene malfunction, was clarified. This finding allowed the genetic diagnosis in a large part of patients with a clinical diagnosis of RTT. However, approximately 5% of patients with classic RTT and more than 25% of patients with atypical forms present negative results for mutations in the MEPC2 gene. This led to the search for other possible genes involved in RTT, especially in the case of atypical forms. Subsequent studies in search of a genetic cause for those patients without diagnosis made it possible to link the CDKL5 and FOXG1 genes to this pathology in 2004 and 2008, respectively. Even so, there is a percentage of patients with the Rett phenotype or similar that their ethology still remains unknown. Recently, next generation sequencing has promoted genetic diagnoses because of the quickness and afford ability of the method. Thus, the introduction of these new technologies allowed us to study a larger number of genes associated with RTT or similar phenotypes simultaneously, providing a genetic diagnosis for a wider group of patients. These new findings allow us to provide the clinician with more information and clues that could help in the prevention of future symptoms or in pharmacologic therapy. Likewise, these results have allowed us to understand the complexity of the disorder a little better

Abp: planifica un viaje por España

Propuesta de ABP innovadora enfocada a investigar sobre turismo en España, realizando análisis de datos encontrados en internet y posteriormente centrándose en una comunidad autónoma en la que se desarrollará un recorrido por grupo. Será un proyecto interdisciplinar de manera que se fomente el inglés a la vez que se descubre la geografía y el patrimonio que España puede ofrecer a gente que no lo conoce. Es una labor que puede interesar a los alumnos y a la vez que descubren la importancia económica y cultural del turismo, pueden aprender a analizar qué tipo de turismo tenemos mayoritariamente, si es sostenible y si conviene el que esté tan focalizado en algunas zonas, así como buscar alternativas para fomentar el que se distribuya beneficiando a otras zonas del país

La planificación de decisiones anticipadas como estrategia preventiva de conflictos éticos en urgencias y emergencias durante y después de la COVID-19

La actual pandemia por la COVID-19 está ocasionado serias amenazas para la salud pública a nivel mundial, especialmente para los grupos de población más vulnerables.  Los casos más graves de la enfermedad han sido primeramente atendidos por los profesionales de urgencias y emergencias, los cuales han tenido que tomar decisiones en contextos altamente complejos donde la priorización en la asignación de los recursos sanitarios disponibles les ha generado situaciones éticamente conflictivas. El objetivo del presente artículo es analizar la importancia de implantar la PDA en los servicios de urgencias y emergencias como herramienta de consulta en la resolución de los problemas éticos surgidos durante la pandemia por COVID-19, concretamente, en la atención al paciente crónico complejo o con enfermedad crónica avanzada. 

La Planificació de Decisions Anticipades com a estratègia preventiva de conflictes ètics a urgències i emergències durant i després de la COVID-19

La actual pandemia por la COVID-19 está ocasionado serias amenazas para la salud pública a nivel mundial, especialmente para los grupos de población más vulnerables. Los casos más graves de la enfermedad han sido primeramente atendidos por los profesionales de urgencias y emergencias, los cuales han tenido que tomar decisiones en contextos altamente complejos donde la priorización en la asignación de los recursos sanitarios disponibles les ha generado situaciones éticamente conflictivas. El objetivo del presente artículo es analizar la importancia de implantar la PDA en los servicios de urgencias y emergencias como herramienta de consulta en la resolución de los problemas éticos surgidos durante la pandemia por COVID-19, concretamente, en la atención al paciente crónico complejo o con enfermedad crónica avanzada

Protective factors of ethical conflict during a pandemic-quali-ethics-COVID-19 research part 2: an international qualitative study

Aims and Objectives: To determine which factors can be considered protective ofethical conflicts in intensive care unit healthcare professionals during a pandemic. Background: The COVID-19 pandemic gave rise to new ethical concerns in relation to the management of public health and the limitations on personal freedom. Continued exposure to ethical conflict can have a range of psychological consequences.Design: A qualitative design based on phenomenological approach.Methods: A total of 38 nurses and physicians who were regular staff members of Barcelona and Milan's public tertiary university hospitals and working in intensive care units during the first wave of the COVID-19 pandemic. Semi-structured online indepth interviews were conducted. A thematic analysis was performed by two independent researchers following the seven steps of Colaizzi's methods. We adhere COREQ guidelines.Results: One theme 'Protective factors of ethical conflict in sanitary crisis' and four subthemes emerged from the data: (1) knowledge of the infectious disease, (2) good communication environment, (3) psychological support and (4) keeping the same work team together. Conclusions: Four elements can be considered protective factors of ethical conflict for healthcare professionals during a sanitary crisis. While some of these factors have already been described, the joint identification of this set of four factors as a single element is, in itself, novel. This should help in ensuring the right mechanisms are inplace to face future pandemics and should serve to improve institutional organisation and guarantee safe and high-quality patient care in times of heath care crisis. Relevance to Clinical Practice: Future strategies for the prevention of ethical conflict during sanitary crises, pandemics or other catastrophes need to consider a set of four factors as a single element. These factors are the knowledge of the infectious disease,a good communication environment, psychological support and keeping the same work team together into joint consideration

Association between knowledge and attitudes towards advance directives in emergency services

Background: implementing the routine consultation of patient advance directives in hospital emergency departments and emergency medical services has become essential, given that advance directives constitute the frame of reference for care personalisation and respect for patients' values and preferences related to healthcare. The aim of this study was to assess the levels and relationship of knowledge and attitudes of nursing and medical professionals towards advance directives in hospital emergency departments and emergency medical services, and to determine the correlated and predictor variables of favourable attitudes towards advance directives. Methods: observational, descriptive, and cross-sectional study. The study was conducted in the emergency department of a second-level hospital and in the emergency medical service. Data collection was performed from January 2019 to February 2020. The STROBE guidelines were followed for the preparation of the study. Results: a total of 173 healthcare professionals responded to the questionnaire. Among them, 91.3% considered that they were not sufficiently informed about advance directives, and 74% acknowledged not having incorporated them into their usual practice. Multinomial analysis indicated a statistically significant relationship between the variable emergency medical service and having more favourable attitudes towards consulting the advance directives in their practical application (OR 2.49 [95% CI 1.06-5.88]; p = 0.037) and compliance in complex scenarios (OR 3.65 [95% CI 1.58 - 8.41]; p = 0.002). Working the afternoon and night shift was a predictor variable for obtaining a higher score with respect to attitudes in complex scenarios. Conclusion: there is an association between the level of knowledge that nursing and medical professionals have about advance directives and the scores obtained on the attitude scales at the time of practical implementation and in complex scenarios. This shows that the more knowledge professionals have, the more likely they are to consult patients' advance directives and to respect their wishes and preferences for care and/or treatment

COVID-19 pandemic experiences, ethical conflict and decision-making process in critical care professionals (Quali-Ethics-COVID-19 Research Part 1): An international qualitative study

Aim and Objectives: The aim of this study was to explore the sources of ethical conflict and the decision-making processes of ICU nurses and physicians during the first and subsequent waves of the COVID-19 pandemic. Background: Depside several studies exploring ethical conflicts during COVID-19 pandemic, few studies have explored in depth the perceptions and experiences of critical care professionals regarding these conflicts, the decision-making process or which have analysed the complexity of actually implementing the recommendations of scientific societies and professional/healthcare institutions in interdisciplinary samples. Design: A descriptive phenomenological study. Methods: Thirty-eight in-depth interviews were conducted with critical care nurses and physicians from five hospitals in Spain and Italy between December 2020 and May 2021. A thematic content analysis of the interview transcripts was conducted by two researchers. Consolidated criteria for reporting qualitative research (COREQ) were employed to ensure the quality and transparency of this study. Results: Two main themes emerged as sources of ethical conflict: the approach to end of life in exceptional circumstances and the lack of humanisation and care resources. The former comprised two subthemes: end-of-life care and withholding and withdrawal of life-sustaining treatment; the latter comprised three subthemes: the impossibility of guaranteeing the same opportunities to all, fear of contagion as a barrier to taking decisions and the need to humanise care. Conclusions: Professionals sought to take their decisions in line with professional ethics and bioethical principles, but, nevertheless, they experienced moral dilemmas and moral distress when not being able to care for, or to treat, their patients as they believed fit. Relevance to Clinical Practice: Further education and training are recommended on the provision of end-of-life and post mortem care, effective communication techniques via video calls, disclosure of bad news and bioethical models for decision-making in highly demanding situations of uncertainty, such as those experienced during the COVID-19 pandemic

Level of discomfort in critically ill paediatric patients and its correlation with sociodemographic and clinical variables, analgosedation and withdrawal syndrome. COSAIP multicentre study (Phase 2)

Introduction: There are clinical and sociodemographic factors that have an impact on the comfort of the critically ill paediatric patient. The main aim of this study was to determine the level of discomfort of paediatric patients admitted to different national hospitals, and to analyse its correlation with sociodemographic and clinical variables, analgosedation, and withdrawal syndrome. Methods: An observational, analytical, cross-sectional, and multicentre study was conducted in five Spanish hospitals. The level of analgosedation was assessed once per shift over a 24 h period, using a BIS sensor, and pain with scales adapted to paediatric age population. The intensity of withdrawal syndrome was determined using the Withdrawal Assessment Tool (WAT-1) scale once per shift for 3 days. Discomfort level was simultaneous assessed using COMFORT Behaviour Scale-Spanish version (CBS-S). Results: A total of 261 critically ill paediatric patients with median age of 1.61 years (IQR = 0.35-6.55) were included. An overall discomfort score of 10.79 ± 3.7 was observed during morning compared to 10.31 ± 3.3 observed during the night. When comparing analgosedation and non-analgosedation groups, statistically differences were found in both shifts (χ2: 45.48; P =.001). At the same time, an association was observed (P <.001) between low discomfort scores and development of withdrawal syndrome development assessed with WAT-1. Conclusions: As there is a percentage of the studied population with discomfort, specific protocols need to be developed, guided by valuated and clinically tested tools, like the COMFORT Behaviour Scale-Spanish version.Introducción: Existen factores clínicos o sociodemográficos que pueden tener un impacto en el confort del paciente crítico pediátrico. El objetivo principal fue determinar el grado de disconfort de los pacientes pediátricos ingresados en las UCIP de diversos hospitales nacionales y analizar su relación con variables ocio demográficas y clínicas, sedoanalgesia y síndrome de abstinencia. Métodos: Estudio observacional, analítico, transversal y multicéntrico en 5 hospitalesespañoles. Se valoró el grado de analgosedación mediante el sensor BIS y las escalas de dolora daptadas a la edad pediátrica, una vez por turno durante 24 h. El grado de abstinencia se determinó con la escala Withdrawal Assessment Tool (WAT-1), una vez por turno durante 3 días consecutivos. Además, se valoró simultáneamente el grado de disconfort mediante la COMFORTBehavior Scale-versión española (CBS-ES).Resultados: Se incluyeron un total de 261 pacientes críticos pediátricos con una mediana de edad de 1,61 años (RIQ = 0,35-6,55). Se objetivaron puntuaciones globales de disconfort de10,79 ± 3,7 en el turno de mañana versus 10,31 ± 3,3 en el de noche. Se observó asociación estadística al comparar al grupo de pacientes analgosedados con el grupo de no analgosedadosen ambos turnos ( 2: 45,48; p = 0,001). A la vez, también se observó una relación estadística-mente significativa (p < 0,001) entre puntuaciones bajas de disconfort y menor desarrollo desíndrome de abstinencia

Micro-scale distribution of recently-detached Carybdea marsupialis box jellyfish along the coast of Denia (W. Mediterranean)

5th International Jellyfish Bloom Symposium, 30 May to 3 June 2016, Barcelona.-- 1 pageCarybdea marsupialis have been found in high densities (~90 ind m3 juveniles, ~51 ind m3 adults) in shallow waters along the coast of Denia (W. Mediterranean) since summer 2008, varying significantly in abundance from year to year. In order study the role of juvenile stages in population dynamics, we analyzed the seasonal and micro-scale spatial distribution of recently-detached cubomedusae (~0.5 mm DBW). The main objective was to determine whether their distribution was focused or dispersed, as a means of revealing the location of the polyps. We also tested the correlation between environmental variables such as nutrient (P, N, Si), Chl-a and zooplankton abundance. During 2015 we collected samples from 33 points: 11 points along 15km of coastline at 3 distances from the coast (0m, 250m and 500m). Recently-detached C. marsupialis were almost only present at a depth of 0m in the samples collected from May to July. Maximum densities (~5 ind m3) were recorded in June in the centre of the study area. We hypothesized that the polyps would be located where the adults had mated the previous year. However, the distribution of recently-detached individuals did not coincide with the higher 2014 adult densities. This might be ascribed to the advection caused by the currents, which alternate along the coast. Abundance was not directly correlated with either zooplankton, nutrients or Chl-a. The next step would be to model the currents pattern and its effect in the dispersion and survival of juvenilesPeer Reviewe

Level of discomfort in critically ill paediatric patients and its correlation with sociodemographic and clinical variables, analgosedation and withdrawal syndrome. COSAIP multicentre study (Phase 2)

Introduction: There are clinical and sociodemographic factors that have an impact on the comfort of the critically ill paediatric patient. The main aim of this study was to determine the level of discomfort of paediatric patients admitted to different national hospitals, and to analyse its correlation with sociodemographic and clinical variables, analgosedation, and withdrawal syndrome. Methods: An observational, analytical, cross-sectional, and multicentre study was conducted in five Spanish hospitals. The level of analgosedation was assessed once per shift over a 24 h period, using a BIS sensor, and pain with scales adapted to paediatric age population. The intensity of withdrawal syndrome was determined using the Withdrawal Assessment Tool (WAT-1) scale once per shift for 3 days. Discomfort level was simultaneously assessed using COMFORT Behaviour Scale-Spanish version (CBS-S). Results: A total of 261 critically ill paediatric patients with median age of 1.61 years (IQR = 0.35-6.55) were included. An overall discomfort score of 10.79 ± 3.7 was observed during morning compared to 10.31 ± 3.3 during the night. When comparing analgosedation and non-analgosedation groups, statistical differences were found in both shifts (χ2: 45.48; P = .001). At the same time, an association was observed (P < .001) between low discomfort scores and development of withdrawal syndrome development assessed with WAT-1. Conclusions: As there is a percentage of the studied population with discomfort, specific protocols need to be developed, guided by valuated and clinically tested tools, like the COMFORT Behaviour Scale-Spanish version. Keywords: Bienestar infantil; COMFORT; CONFORT; Infant welfare; Paediatric Intensive Care Unit; Sedación; Sedation; Síndrome de abstinencia; Unidad de Cuidados Intensivos Pediátricos; Withdrawal syndrome