El trabajo supone la integración de conocimiento desde las especialidades médicas directamente implicadas en el manejo del paciente con CP (urología, oncología radioterápica y oncología médica) y, no solo ello, sino procedentes de centros distintos, con realidades distintas, por lo que en sí mismo el proyecto traduce el consenso para la actuación en esta fase de la enfermedad desde todos los puntos de vista en el territorio catalán. Hemos estructurado las guías en 3 capítulos que responden a la realidad clínica en el momento actual. De esta forma el objetivo principal es conseguir un documento que...

En algún momento, ¿podemos permitirnos que los beneficios en salud ganados por la persona, gracias a la atención hospitalaria, se pierdan por una mala planificación del alta cuando regresa a casa? ¿Qué significa para una persona ingresar en un hospital? ¿Y para su familia? ¿Cómo afecta ese ingreso a sus vidas? La hospitalización siempre rompe dinámicas familiares y sociales que los profesionales asistenciales deben conocer en tiempo real para, en tiempo real, gestionar y prevenir las adversidades que dificultarán la continuidad de los cuidados biopsicosociales y el regreso a casa de la persona cuando no requiera cuidados hospitalarios.

¿Por qué el cáncer se ha convertido en una epidemia mortífera? ¿Por qué España es el segundo país del mundo más consumidor de medicamentos? ¿Por qué algunos fármacos peligrosos y alimentos tóxicos que nos perjudican se siguen comercializando? El objetivo de esta obra literaria, basada en una investigación exhaustiva, es dar una respuesta a todas estas preguntas desde un lado crítico y desmontar muchos de los sucesos que ocurren en el sistema de sanidad actual.Por desgracia, la medicina está más enferma que nunca. La corrupción y los conflictos de intereses abundan en un sector de vital importancia para los ciudadanos, que se ven obligados a gastar más a cambio de una peor calidad de vida, llena de efectos adversos e iatrogenia.

Este libro fue escrito desde lo más profundo de mi corazón. Es el reflejo de toda una vida, pasada y futura. Está cargado de emoción y conocimientos. En sus páginas encontrarás todo lo que yo he aprendido. Te entrego las claves para mejorar tu salud y que no cometas los mismos errores que yo. Si lo haces ¡habrás ganado!El poder está en nuestras manos y en nosotros mismos. ¡Sanar es posible! Solo hace falta entender que no somos únicamente un cuerpo; también somos mente y espíritu.

Resumen: Objetivo: Analizar el cáncer de cuello de útero como problema social.Metodos: Estudio transversal con datos poblacionales, fundamentado en la epidemiología descriptiva. Los datos fueron recolectados en la base de datos Globocan-2008. En el análisis es aplicada la clasificación de desarrollo de los países, de la Organización de las Naciones Unidas, y los niveles de incidencia y mortalidad por cáncer de cuello uterino, de la Agencia Internacional para la Investigación en Cáncer. Resultados: Para el año 2008 fue estimada la ocurrencia de 529.828 casos nuevos y 275.128 muertes en el mundo, de los cuales 85 % y 88 % respectivamente ocurrieron en países en desarrollo, en estos países la tasa de incidencia por CCU fue de 17,8 por 100.000 mujeres, la tasa de mortalidad fue de 9,8 por 100.000 mujeres y el riesgo de una mujer ser afectada por esa neoplasia antes de los 75 años es de 1,87 % y el de morir es de 1,10 %. En los países desarrollados, la tasa de incidencia por CCU es de 9,0 por 100.000 mujeres, la tasa de mortalidad es de 3,2 por 100.000 mujeres y el riesgo de una mujer ser afectada por esa neoplasia antes de los 75 años es de 0,85 %, y el de morir es de 0,33 %. Conclusiones: El CCU es un problema social mundial, que afecta a las mujeres de los países en desarrollo como de los países desarrollados. Las proyecciones de la enfermedad en el período 2010 a 2030 revelan tendencia en el aumento de casos nuevos, siendo mayor el riesgo de enfermar por CCU en mujeres de países en desarrollo. Abstract:Objective: To analyze cervical cancer as a social problem. Method: Cross sectional study with population data, based in descriptive epidemiology. Data were collected using the Globocan 2008 database. The United Nations classification of countries based on their level of development, the mortality rates due to cervical cancer from the International agency for research on cancer were applied to the analysis. Results: In 2008 the cervical cancer incidence was calculated in 529.828 new cases and 275.128 deaths in the World, from which 85 % and 88 % were from developed and developing countries respectively. In the developing countries the incidence rate of CUC was 17.8 % per 100.000 women, the mortality rate was 9.8 % per 100.000 women, the risk for a women of being affected by the neoplasia before the age of 75 years old is 1.87 % and the risk of dying is 1.10 %. In developed countries the incidence rate of CUC was 9.0 per 100.000 women, the mortality rate was 3.2 % per 100.000 women and the risk for a women of being affected by the neoplasia before the age of 75 years old is 0.85 % and the risk of dying is 0.33%. Conclusion: CUC is a social problem Worldwide; it affects women from developing countries as well as women from developed countries. Disease projections for the period between 2010 and 2030 reveal a tendency of increasing the number of new cases, being the highest risk of falling ill with CUC for women from developing countries.

Abstract: BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder associated with significant morbidity and mortality that may affect over 5% of children and approximately 2.8% of adults worldwide. Pharmacological and behavioral therapies for ADHD exist, but critical symptoms such as dysexecutive deficits remain unaffected. In a randomized, sham-controlled, double-blind, crossover mechanistic study, we assessed the cognitive and physiological effects of transcranial direct current stimulation (tDCS) in 40 adult patients with ADHD in order to identify diagnostic (cross-sectional) and treatment biomarkers (targets). METHODS: Patients performed three experimental sessions in which they received 30 minutes of 2 mA anodal tDCS targeting the left dorsolateral prefrontal cortex, 30 minutes of 2 mA anodal tDCS targeting the right dorsolateral prefrontal cortex, and 30 minutes of sham. Before and after each session, half the patients completed the Eriksen flanker task and the other half completed the stop signal task while we assessed behavior (reaction time, accuracy) and neurophysiology (event-related potentials). RESULTS: Anodal tDCS to the left dorsolateral prefrontal cortex modulated cognitive (reaction time) and physiological (P300 amplitude) measures in the Eriksen flanker task in a state-dependent manner, but no effects were found in the stop signal reaction time of the stop signal task. CONCLUSIONS: These findings show procognitive effects in ADHD associated with the modulation of event-related potential signatures of cognitive control, linking target engagement with cognitive benefit, proving the value of eventrelated potentials as cross-sectional biomarkers of executive performance, and mechanistically supporting the statedependent nature of tDCS. We interpret these results as an improvement in cognitive control but not action cancellation, supporting the existence of different impulsivity constructs with overlapping but distinct anatomical substrates, and highlighting the implications for the development of individualized therapeutics.

Abstract: Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability and limb anomalies. Its clinical presentation can be extremely variable. Here we report on a girl with classical CdLS phenotype, growth retardation, intellectual disability and gastroesophageal reflux disease, who is mosaic for the c.6647A>C mutation in the NIPBL gene. While this mutation was undetected by standard Sanger sequencing, it was identified by subsequent exome and panel sequencing approaches. Allele quantification by pyrosequencing showed the presence of the mutation in about 10%, 23.5% and 46.5% of DNA samples from peripheral blood leukocytes, buccal epithelial cells and fibroblasts, respectively. NIPBL mutations in a mosaic state are a frequent cause of CdLS, but clinical diagnosis of these patients can be challenging. In our case, the panel enriched sequencing as well as the exome sequencing clearly demonstrated to be very sensitive tools for mosaic mutation detection.

Abstract: Cornelia de Lange syndrome (CdLS) is a dominant inherited congenital developmental disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ~ 70% of CdLS cases. Cohesin complex participates in chromosome segregation, DNA repair mechanisms, gene expression and chromosome conformation. Turner syndrome (TS) affects about one in 2000 live born females and results from complete or partial absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. Here, we describe a patient with CdLS due to a mutation in the NIPBL gene (c.1445_1448delGAGA, p.(Arg482Asnfs*20)) and mosaic TS (mos 45,X/46,XX karyotype). The patient showed multiple clinical features related to CdLS: craniofacial dysmorphism, pre- and post-natal growth delay, minor musculoskeletal anomalies, congenital heart defects and hirsutism. She also presented severe neurological involvement, including slight hypertonia, learning disabilities, verbal and motor development delay, intellectual impairment and (autistic-like features, aggression, self-injurious behaviour). In addition, the proband was clinically diagnosed with TS because of two typical recognizable features: the peripheral lymphedema and the webbed neck. Molecular characterization showed that the NIPBL mutation was present in the two tissues analyzed from different embryonic origins (peripheral blood lymphocytes from mesoderm and oral mucosa epithelial cells from ectoderm). However, FISH analyses revealed that the percentage of cells with monosomy X was low and tissue-specific. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. The coexistence in a patient of two rare disorders raises the issue of whether there is indeed a cause-effect association. In addition, we are forced to investigate the correlation between the genotype (a frameshift NIPBL mutation) and karyotype (mosaic X chromosome aneuploidy), with the patient’s phenotype. Therefore, we compare the clinical signs of each organ system described in our case to the typical clinical features of Cornelia de Lange and Turner syndromes. We conclude that our case seems to show a predominant CdLS phenotype, although additional TS manifestations might appear in adolescence. Besides, the significant neurological involvement reinforces the idea that the brain is the organ most sensitive to cohesin disruption.

Abstract: Objective: To investigate opportunities for task shifting to decongest an outpatient neurology clinic in Zambia by describing current patient flow through the clinic and potential nodes for intervention using process mapping. Background: Zambia has a population of approximately 18 million people with 4 full-time adult neurologists, as of 2018, who all practice at the University Teaching Hospital (UTH), the main tertiary care center in the country. As a result of this provider-to-patient ratio, the outpatient neurology clinic is overcrowded and overbooked. Task-shifting programs have shown to improve efficiency, access and quality of care through the use of less specialized healthcare workers in low- and middle-income countries (LMIC). Methods: We evaluated patient flow in the UTH neurology outpatient clinic through the development and analysis of a process map. The characteristics of the clinic population between 2014 and 2018 were retrospectively reviewed from the clinic register. Between July and August 2018, we prospectively collected appointment lag times and time each patient spent waiting at various points in the clinic process. We conducted interviews with clinic staff and neurologists to generate a detailed process map of current pathways to care within the clinic. We then devised task- shifting strategies to help reduce patient wait times based on the overview of clinic process mapping and patient demographics. Results: From 2014 to 2018, there were 4701 outpatients seen in the neurology clinic. The most common neurologi- cal diagnoses were epilepsy (39.2%), headache (21.5%) and cerebrovascular disease (16.7%). During prospective data collection, patients waited an average of 57.8 (SD 73.4) days to be seen by a neurologist. The average wait time from arrival in the clinic to departure was 4.0 (SD 2.5) h. The process map and interviews with clinic staff revealed long waiting times due to a paucity of providers. Nurses and clerks represent an influential stakeholder group, but are not actively involved in any activity to reduce wait times. A large proportion of follow-up patients were stable and seen solely to obtain medication refills. Conclusions: Epilepsy, headache, and stroke make up the largest percentage of outpatient neurological illness in Zambia. Targeting stable patients in these diagnostic categories for a task-shifting intervention may lead to substan- tially decreased patient wait times. Potential interventions include shifting clinical follow-ups and medication refills to less specialized healthcare workers.

Abstract: Objective: To investigate opportunities for task shifting to decongest an outpatient neurology clinic in Zambia by describing current patient flow through the clinic and potential nodes for intervention using process mapping. Background: Zambia has a population of approximately 18 million people with 4 full-time adult neurologists, as of 2018, who all practice at the University Teaching Hospital (UTH), the main tertiary care center in the country. As a result of this provider-to-patient ratio, the outpatient neurology clinic is overcrowded and overbooked. Task-shifting programs have shown to improve efficiency, access and quality of care through the use of less specialized healthcare workers in low- and middle-income countries (LMIC). Methods: We evaluated patient flow in the UTH neurology outpatient clinic through the development and analysis of a process map. The characteristics of the clinic population between 2014 and 2018 were retrospectively reviewed from the clinic register. Between July and August 2018, we prospectively collected appointment lag times and time each patient spent waiting at various points in the clinic process. We conducted interviews with clinic staff and neurologists to generate a detailed process map of current pathways to care within the clinic. We then devised task- shifting strategies to help reduce patient wait times based on the overview of clinic process mapping and patient demographics. Results: From 2014 to 2018, there were 4701 outpatients seen in the neurology clinic. The most common neurologi- cal diagnoses were epilepsy (39.2%), headache (21.5%) and cerebrovascular disease (16.7%). During prospective data collection, patients waited an average of 57.8 (SD 73.4) days to be seen by a neurologist. The average wait time from arrival in the clinic to departure was 4.0 (SD 2.5) h. The process map and interviews with clinic staff revealed long waiting times due to a paucity of providers. Nurses and clerks represent an influential stakeholder group, but are not actively involved in any activity to reduce wait times. A large proportion of follow-up patients were stable and seen solely to obtain medication refills. Conclusions: Epilepsy, headache, and stroke make up the largest percentage of outpatient neurological illness in Zambia. Targeting stable patients in these diagnostic categories for a task-shifting intervention may lead to substan- tially decreased patient wait times. Potential interventions include shifting clinical follow-ups and medication refills to less specialized healthcare workers.