Facilitators and barriers to modifying dietary and hygiene behaviours as adjuvant treatment in patients with depression in primary care: A qualitative study.

Background: Major depression is a highly prevalent condition. Its pathogenesis is related to a wide variety of biological and psychosocial factors and among these is factors related to lifestyle. Lifestyle-based interventions seem to be appropriate strategies as coadjutant treatment. The objective of this study is to explore and identify expectations and experiences of both patients and healthcare professionals that can point to the main barriers and facilitators with regard to the promotion of healthy dietary and hygiene behaviours in patients suffering from major depression. Methods: A qualitative design was used to collect information from a wide range of purposefully and theoretically guided samples of depressed patients and health professionals from Primary Care (PC). Both in-depth interviews and discussion groups were used. A standardized protocol was designed to guide the interviews and groups, including the preparation of a topic list to be addressed, with previously tested, open suggestions that could be of interest. A thematic analysis was performed from grounded theory in order to explore, develop and define until saturation the emergent categories of analysis derived from the individual interview and group data. Results: Both patients as well as PC professionals noted a series of central aspects with respect to the implementation of a programme for the acquisition of healthy dietary and hygiene habits for depressive patients, which may be organized around ‘personal’, ‘programmatic’, and ‘transversal’ aspects. As for the personal aspects, categories regarding ‘patient history’, and ‘disposition’ were found; the programmatic aspects included categories such as ‘presentation and monitoring’, and modification of ‘cognitive’ and ‘behavioural’ habits; whereas the transversal aspects comprised the possibilities of ‘social support’ and defining categories of ‘objectives’. Conclusion: The implementation of intervention programmes that combine dietary and hygiene-related factors in patients with depression is complex, given the nature of the disorder itself, and its symptoms such as apathy and feelings of guilt or incompetence. Key issues exist for the success of the intervention, such as the simplicity of guidelines, tailoring through motivational interviewing, prolonged and intense monitoring throughout the different stages of the disorder, and the provision of adequate feedback and social support. PC could be an appropriate level in which to implement these interventions

Análisis de predicciones decenales a alta resolución de eventos de sequía en el departamento del Chocó - Colombia

Ponencia presentada en: XII Congreso de la Asociación Española de Climatología celebrado en Santiago de Compostela entre el 19 y el 21 de octubre de 2022.[ES]Los impactos sobre el ambiente como consecuencia del cambio climático son sustanciales para el futuro, pudiendo afectar de forma marcada a la hidrología de las regiones tropicales. Esta investigación estudia el uso potencial de las predicciones decenales del modelo “Model for Interdisciplinary Research on Climate” (MIROC6) para predecir eventos de sequía en el Chocó, zona con grandes registros de precipitación anual, pero en la que los eventos secos tienen marcadas repercusiones socioeconómicas y sobre la biodiversidad. La elección de este modelo se basa en la capacidad que tiene éste para reproducir los principales patrones de la circulación atmosférica que afectan el área de estudio. El análisis se realiza a partir los hindcasts decenales de este modelo en el periodo 1961-2018. Teniendo en cuenta la vasta resolución de los modelos de circulación general (GCM-MIROC6), se emplea la metodología de Downscaling Estadístico (DS), para obtener las predicciones regionalizadas de la precipitación. A partir de los valores de la precipitación obtenida a alta resolución espacial, los eventos de sequía se caracterizan mediante el Índice Estandarizado de Precipitación (SPI) a una escala temporal de 3 meses.[EN]The impacts on the environment because of climate change are substantial for the future and could markedly affect the hydrology of tropical regions. This research studies the potential use of decadal predictions of the Model for Interdisciplinary Research on Climate (MIROC6) model to predict drought events in Chocó, an area with large annual precipitation records, but where dry events have marked socioeconomic and biodiversity impacts. The choice of this model is based on its ability to reproduce the main atmospheric circulation patterns that affect the study area. The analysis is based on the decadal hindcasts of this model for the period 1961- 2018. Considering the vast resolution of the general circulation models (GCMMIROC6), the Statistical Downscaling (DS) methodology is used to obtain regionalized predictions of precipitation. From the precipitation values obtained at high spatial resolution, drought events are characterized by the Standardized Precipitation Index (SPI) at a time scale of 3 months.Este estudio ha sido realizado en el marco del proyecto CGL2017-89836-R, financiado por el Ministerio de Economía y Competitividad, y con fondos FEDER adicionales: B-RNM-336-UGR18, financiado por FEDER/Junta de Andalucía - Conserjería de Economía y Conocimiento, y P20_00035, financiado por FEDER/Junta de Andalucía-Conserjería de Transformación Económica, Industria, Conocimiento y Universidades, y Ministerio de Ciencia e Innovación (proyecto LifeWatch-2019-10-UGR-01)

Formación del profesorado de Geografía y ciencias afines en docencia online y semipresencial basada en tecnologías de la información geográfica y ODS (DIDGEOTIG-II)

Este proyecto de innovación docente ha pretendido incorporar la semipresencialidad a la capacitación del profesorado/alumnado de Geografía y ciencias afines en docencia virtual basada en TIG abiertas y ODS, aportando soluciones a la brecha digital, la insostenibilidad y la educación despersonalizada. Se ha configurado una guía didáctica de actividades basadas en TIG para enseñar contenidos de educación geográfica para el desarrollo sostenible, combinando tareas virtuales con intervenciones presenciales, en favor de la salud mental de los agentes educativos y una mayor eficacia didáctica. La guía ha tenido en cuenta una encuesta de detección y valoración de problemas y soluciones en la enseñanza virtual de la Geografía, y algunas de sus actividades han sido testadas empíricamente, con una valoración docente y discente que ha validado la adecuación del enfoque semipresencial, geodigital y sostenible de la guía didáctica

Comparison of body mass index (BMI) with the CUN-BAE body adiposity estimator in the prediction of hypertension and type 2 diabetes

Background Obesity is a world-wide epidemic whose prevalence is underestimated by BMI measurements, but CUN-BAE (Clínica Universidad de Navarra - Body Adiposity Estimator) estimates the percentage of body fat (BF) while incorporating information on sex and age, thus giving a better match. Our aim is to compare the BMI and CUN-BAE in determining the population attributable fraction (AFp) for obesity as a cause of chronic diseases. Methods We calculated the Pearson correlation coefficient between BMI and CUN-BAE, the Kappa index and the internal validity of the BMI. The risks of arterial hypertension (AHT) and diabetes mellitus (DM) and the AFp for obesity were assessed using both the BMI and CUN-BAE. Results 3888 white subjects were investigated. The overall correlation between BMI and CUN-BAE was R2 = 0.48, which improved when sex and age were taken into account (R2 > 0.90). The Kappa coefficient for diagnosis of obesity was low (28.7 %). The AFp was 50 % higher for DM and double for AHT when CUN-BAE was used. Conclusions The overall correlation between BMI and CUN-BAE was not good. The AFp of obesity for AHT and DM may be underestimated if assessed using the BMI, as may the prevalence of obesity when estimated from the percentage of BF

Colombian consensus on the treatment of Placenta Accreta Spectrum (PAS)

Introducción: el espectro de acretismo placentario (EAP) es una condición asociada a sangrado masivo posparto y mortalidad materna. Las guías de manejo publicadas en países de altos ingresos recomiendan la participación de grupos interdisciplinarios en hospitales con recursos suficientes para realizar procedimientos complejos. Sin embargo, algunas de las recomendaciones de estas guías resultan difíciles de aplicar en países de bajos y medianos ingresos. Objetivos: este consenso busca formular recomendaciones generales para el tratamiento del EAP en Colombia. Materiales y métodos: en el consenso participaron 23 panelistas, quienes respondieron 31 preguntas sobre el tratamiento de EAP. Los panelistas fueron seleccionados con base en la participación en dos encuestas realizadas para determinar la capacidad resolutiva de hospitales en el país y la región. Se utilizó la metodología Delphi modificada, incorporando dos rondas sucesivas de discusión. Para emitir las recomendaciones el grupo tomó en cuenta la opinión de los participantes, que lograron un consenso mayor al 80 %, así como las barreras y los facilitadores para su implementación. Resultados: el consenso formuló cinco recomendaciones integrando las respuestas de los panelistas. Recomendación 1. Las instituciones de atención primaria deben realizar búsqueda activa de EAP en pacientes con factores de riesgo: placenta previa e historia de miomectomía o cesárea en embarazo previo. En caso de haber signos sugestivos de EAP por ecografía, las pacientes deben ser remitidas de manera inmediata, sin tener una edad gestacional mínima, a hospitales reconocidos como centros de referencia. Las modalidades virtuales de comunicación y atención en salud pueden facilitar la interacción entre las instituciones de atención primaria y los centros de referencia para EAP. Se debe evaluar el beneficio y riesgo de las modalidades de telemedicina. Recomendación 2. Es necesario que se definan hospitales de referencia para EAP en cada región de Colombia, asegurando el cubrimiento de la totalidad del territorio nacional. Es aconsejable concentrar el flujo de pacientes afectadas por esta condición en unos pocos hospitales, donde haya equipos de cirujanos con entrenamiento específico en EAP, disponibilidad de recursos especializados y un esfuerzo institucional por mejorar la calidad de atención, en busca de tener mejores resultados en la salud de las gestantes con esta condición. Para lograr ese objetivo los participantes recomiendan que los entes reguladores de la prestación de servicios de salud a nivel nacional, regional o local vigilen el proceso de remisión de estas pacientes, facilitando rutas administrativas en caso de que no exista contrato previo entre el asegurador y el hospital o la clínica seleccionada (IPS). Recomendación 3. En los centros de referencia para pacientes con EAP se invita a la creación de equipos que incorporen un grupo fijo de especialistas (obstetras, urólogos, cirujanos generales, radiólogos intervencionistas) encargados de atender todos los casos de EAP. Es recomendable que esos grupos interdisciplinarios utilicen el modelo de “paquete de intervención” como guía para la preparación de los centros de referencia para EAP. Este modelo consta de las siguientes actividades: preparación de los servicios, prevención e identificación de la enfermedad, respuesta ante la presentación de la enfermedad, aprendizaje luego de cada evento. La telemedicina facilita el tratamiento de EAP y debe ser tenida en cuenta por los grupos interdisciplinarios que atienden esta enfermedad. Recomendación 4. Los residentes de Obstetricia deben recibir instrucción en maniobras útiles para la prevención y el tratamiento del sangrado intraoperatorio masivo por placenta previa y EAP, tales como: la compresión manual de la aorta, el torniquete uterino, el empaquetamiento pélvico, el bypass retrovesical y la maniobra de Ward. Los conceptos básicos de diagnóstico y tratamiento de EAP deben incluirse en los programas de especialización en Ginecología y Obstetricia en Colombia. En los centros de referencia del EAP se deben ofrecer programas de entrenamiento a los profesionales interesados en mejorar sus competencias en EAP de manera presencial y virtual. Además, deben ofrecer soporte asistencial remoto (telemedicina) permanente a los demás hospitales en su región, en relación con pacientes con esa enfermedad. Recomendación 5. La finalización de la gestación en pacientes con sospecha de EAP y placenta previa, por imágenes diagnósticas, sin evidencia de sangrado vaginal activo, debe llevarse a cabo entre las semanas 34 y 36 6/7. El tratamiento quirúrgico debe incluir intervenciones secuenciales que pueden variar según las características de la lesión, la situación clínica de la paciente y los recursos disponibles. Las opciones quirúrgicas (histerectomía total y subtotal, manejo quirúrgico conservador en un paso y manejo expectante) deben incluirse en un protocolo conocido por todo el equipo interdisciplinario. En escenarios sin diagnóstico anteparto, es decir, ante un hallazgo intraoperatorio de EAP (evidencia de abultamiento violáceo o neovascularización de la cara anterior del útero), y con participación de personal no entrenado, se plantean tres situaciones: Primera opción: en ausencia de indicación de nacimiento inmediato o sangrado vaginal, se recomienda diferir la cesárea (cerrar la laparotomía antes de incidir el útero) hasta asegurar la disponibilidad de los recursos recomendados para llevar a cabo una cirugía segura. Segunda opción: ante indicación de nacimiento inmediato (por ejemplo, estado fetal no tranquilizador), pero sin sangrado vaginal o indicación de manejo inmediato de EAP, se sugiere realizar manejo en dos tiempos: se realiza la cesárea evitando incidir la placenta, seguida de histerorrafia y cierre de abdomen, hasta asegurar la disponibilidad de los recursos recomendados para llevar a cabo una cirugía segura. Tercera opción: en presencia de sangrado vaginal que hace imposible diferir el manejo definitivo de EAP, es necesario extraer el feto por el fondo del útero, realizar la histerorrafia y reevaluar. En ocasiones, el nacimiento del feto disminuye el flujo placentario y el sangrado vaginal se reduce o desaparece, lo que hace posible diferir el manejo definitivo de EAP. Si el sangrado significativo persiste, es necesario continuar con la histerectomía haciendo uso de los recursos disponibles: compresión manual de la aorta, llamado inmediato a los cirujanos con mejor entrenamiento disponible, soporte de grupos expertos de otros hospitales a través de telemedicina. Si una paciente con factores de riesgo para EAP (por ejemplo, miomectomía o cesárea previa) presenta retención de placenta posterior al parto vaginal, es recomendable confirmar la posibilidad de dicho diagnóstico (por ejemplo, realizando una ecografía) antes de intentar la extracción manual de la placenta. Conclusiones: esperamos que este primer consenso colombiano de EAP sirva como base para discusiones adicionales y trabajos colaborativos que mejoren los resultados clínicos de las mujeres afectadas por esta enfermedad. Evaluar la aplicabilidad y efectividad de las recomendaciones emitidas requerirá investigaciones adicionales.Q4Pacientes con Espectro de Acretismo Placentario (EAP)Introduction: Placenta accreta spectrum (PAS) is a condition associated with massive postpartum bleeding and maternal mortality. Management guidelines published in high income countries recommend the participation of interdisciplinary teams in hospitals with sufficient resources for performing complex procedures. However, some of the recommendations contained in those guidelines are difficult to implement in low and medium income countries. Objectives: The aim of this consensus is to draft general recommendations for the treatment of PAS in Colombia. Materials and Methods: Twenty-three panelists took part in the consensus with their answers to 31 questions related to the treatment of PAS. The panelists were selected based on participation in two surveys designed to determine the resolution capabilities of national and regional hospitals. The modified Delphi methodology was used, introducing two successive discussion rounds. The opinions of the participants, with a consensus of more than 80 %, as well as implementation barriers and facilitators, were taken into consideration in order to issue the recommendations. Results: The consensus drafted five recommendations, integrating the answers of the panelists. Recommendation 1. Primary care institutions must undertake active search of PAS in patients with risk factors: placenta praevia and history of myomectomy or previous cesarean section. In case of ultrasound signs suggesting PAS, patients must be immediately referred, without a minimum gestational age, to hospitals recognized as referral centers. Online communication and care modalities may facilitate the interaction between primary care institutions and referral centers for PAS. The risks and benefits of telemedicine modalities must be weighed. Recommendation 2. Referral hospitals for PAS need to be defined in each region of Colombia, ensuring coverage throughout the national territory. It is advisable to concentrate the flow of patients affected by this condition in a few hospitals with surgical teams specifically trained in PAS, availability of specialized resources, and institutional efforts at improving quality of care with the aim of achieving better health outcomes in pregnant women with this condition. To achieve this goal, participants recommend that healthcare regulatory agencies at a national and regional level should oversee the process of referral for these patients, expediting administrative pathways in those cases in which there is no prior agreement between the insurer and the selected hospital or clinic.Recommendation 3. Referral centers for patients with PAS are urged to build teams consisting of a fixed group of specialists (obstetricians, urologists, general surgeons, interventional radiologists) entrusted with the care of all PAS cases. It is advisable for these interdisciplinary teams to use the “intervention bundle” model as a guidance for building PAS referral centers. This model comprises the following activities: service preparedness, disease prevention and identification, response to the occurrence of the disease, and debriefing after every event. Telemedicine facilitates PAS treatment and should be taken into consideration by interdisciplinary teams caring for this disease. Recommendation 4. Obstetrics residents must be instructed in the performance of maneuvers that are useful for the prevention and treatment of massive intraoperative bleeding due to placenta praevia and PAS, including manual aortic compression, uterine tourniquet, pelvic packing, retrovesical bypass, and Ward maneuver. Specialization Obstetrics and Gynecology programs in Colombia must include the basic concepts of the diagnosis and treatment of PAS. Referral centers for PAS must offer online and in-person training programs for professionals interested in improving their competencies in PAS. Moreover, they must offer permanent remote support (telemedicine) to other hospitals in their region for patients with this condition. Recommendation 5. Patients suspected of having PAS and placenta praevia based on imaging, with no evidence of active vaginal bleeding, must be delivered between weeks 34 and 36 6/7. Surgical treatment must include sequential interventions that may vary depending on the characteristics of the lesion, the clinical condition of the patient and the availability of resources. The surgical options (total and subtotal hysterectomy, one-stage conservative surgical management and watchful waiting) must be included in a protocol known by the entire interdisciplinary team. In situations in which an antepartum diagnosis is lacking, that is to say, in the face of intraoperative finding of PAS (evidence of purple bulging or neovascularization of the anterior aspect of the uterus), and the participation of untrained personnel, three options are considered: Option 1: In the absence of indication of immediate delivery or of vaginal delivery, the recommendation is to postpone the cesarean section (close the laparotomy before incising the uterus) until the recommended resources for safe surgery are secured. Option 2: If there is an indication for immediate delivery (e.g., non-reassuring fetal status) but there is absence of vaginal bleeding or indication for immediate PAS management, a two-stage management is suggested: cesarean section avoiding placental incision, followed by uterine repair and abdominal closure, until the availability of the recommended resources for safe surgery is ascertained. Option 3: In the event of vaginal bleeding that prevents definitive PAS management, the fetus must be delivered through the uterine fundus, followed by uterine repair and reassessment of the situation. Sometimes, fetal delivery diminishes placental flow and vaginal bleeding is reduced or disappears, enabling the possibility to postpone definitive management of PAS. In case of persistent significant bleeding, hysterectomy should be performed, using all available resources: manual aortic compression, immediate call to the surgeons with the best available training, telemedicine support from expert teams in other hospitals.If a patient with risk factors for PAS (e.g., myomectomy or previous cesarean section) has a retained placenta after vaginal delivery, it is advisable to confirm the possibility of such diagnosis (by means of ultrasound, for example) before proceeding to manual extraction of the placenta.Conclusions: It is our hope that this first Colombian consensus on PAS will serve as a basis for additional discussions and collaborations that can result in improved clinical outcomes for women affected by this condition. Additional research will be required in order to evaluate the applicability and effectiveness of these recommendations.https://orcid.org/0000-0001-6822-0374Revista Nacional - IndexadaCN

Familial hypercholesterolemia : review article

La hipercolesterolemia familiar (HF) es una alteración de origen genético que clínicamente se puede manifestar desde el nacimiento y que se caracteriza por niveles plasmáticos anormalmente altos de colesterol LDL (cLDL) y por una elevada tasa de morbimortalidad cardiovascular prematura. Tiene dos formas de presentación: la HF heterocigótica (HFHe) y la HF homocigótica (HFHo); esta última más severa y de aparición clínica en los primeros años de vida. Históricamente, la prevalencia para la HFHe es de un caso en 500 personas y para la HFHo de un caso por cada millón de personas; sin embargo, los datos reales probablemente son superiores porque hay evidencia de que ambas condiciones están subdiagnosticadas. La terapia recomendada, además de los cambios en el estilo de vida, son las estatinas; sin embargo, con estos fármacos es difícil lograr en muchos casos reducciones aceptables del cLDL, por lo que se requiere asociar otras modalidades terapéuticas, algunas de ellas recientemente aprobadas. Dado que en Colombia no se ha publicado ningún documento de revisión sobre HF, la Sociedad Colombiana de Cardiología y Cirugía Cardiovascular convocó a diferentes especialidades de la medicina para elaborar un documento sobre el tema, que resumiera, de manera práctica y actualizada, aspectos clínicos, genéticos, diagnósticos y de tratamiento.Q44-26Familial hypercholesterolemia (FH) is a genetic disorder that may clinically manifest since birth and is characterized by abnormally high plasma LDL cholesterol (LDLc) levels and a high early cardiovascular morbidity and mortality rate. FH has two presentation forms: heterozygous FH (HeFH) and homozygous FH (HoFH), the latter being more severe and with a clinical onset during the first few years of life. Historically, HeFH prevalence is of 1:500 and HoFH of 1:1 million; however, real data are probably higher because evidence indicated that both conditions are underdiagnosed. Recommended therapy, besides lifestyle changes, are statins; nevertheless, these drugs make it difficult in many cases to achieve reasonable cLDL reductions, therefore an association with other therapeutic models, some of which have recently been approved, is required. Since no review papers have been published in Colombia regarding FH, the Colombian Cardiology and Cardiovascular Surgery Society invited several medical specialties to draft a document on the subject that would sum up, in a practical and updated way, clinical, genetics, diagnostics and therapeutic aspects

Association Between Preexisting Versus Newly Identified Atrial Fibrillation and Outcomes of Patients With Acute Pulmonary Embolism

Background Atrial fibrillation (AF) may exist before or occur early in the course of pulmonary embolism (PE). We determined the PE outcomes based on the presence and timing of AF. Methods and Results Using the data from a multicenter PE registry, we identified 3 groups: (1) those with preexisting AF, (2) patients with new AF within 2 days from acute PE (incident AF), and (3) patients without AF. We assessed the 90-day and 1-year risk of mortality and stroke in patients with AF, compared with those without AF (reference group). Among 16 497 patients with PE, 792 had preexisting AF. These patients had increased odds of 90-day all-cause (odds ratio [OR], 2.81; 95% CI, 2.33-3.38) and PE-related mortality (OR, 2.38; 95% CI, 1.37-4.14) and increased 1-year hazard for ischemic stroke (hazard ratio, 5.48; 95% CI, 3.10-9.69) compared with those without AF. After multivariable adjustment, preexisting AF was associated with significantly increased odds of all-cause mortality (OR, 1.91; 95% CI, 1.57-2.32) but not PE-related mortality (OR, 1.50; 95% CI, 0.85-2.66). Among 16 497 patients with PE, 445 developed new incident AF within 2 days of acute PE. Incident AF was associated with increased odds of 90-day all-cause (OR, 2.28; 95% CI, 1.75-2.97) and PE-related (OR, 3.64; 95% CI, 2.01-6.59) mortality but not stroke. Findings were similar in multivariable analyses. Conclusions In patients with acute symptomatic PE, both preexisting AF and incident AF predict adverse clinical outcomes. The type of adverse outcomes may differ depending on the timing of AF onset.info:eu-repo/semantics/publishedVersio

Competitive Risaralda, generating research alliance for development

El presente libro lleva como título “Risaralda competitiva, generando alianzas en investigación para el desarrollo”, resultado del V encuentro de investigadores del departamento de Risaralda realizado en el mes de noviembre del año 2020. Evento en el cual se presentaron las últimas investigaciones realizadas en las diferentes instituciones educativas del departamento; quienes hacen parte de la Mesa de Investigaciones de Risaralda; ejercicio de gran interés que arroja resultados de investigaciones en diferentes áreas como son las Ciencias Agrícolas, Ciencias sociales, Ciencias de la salud, Ciencias de la tecnología y la información

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

Background: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. Methods: In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with =2 clinical signs/symptoms of NP-C were considered ''suspected NP-C'' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI =70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. Results: In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores =70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. Conclusion: This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis

Effectiveness of an intervention for improving drug prescription in primary care patients with multimorbidity and polypharmacy:Study protocol of a cluster randomized clinical trial (Multi-PAP project)

This study was funded by the Fondo de Investigaciones Sanitarias ISCIII (Grant Numbers PI15/00276, PI15/00572, PI15/00996), REDISSEC (Project Numbers RD12/0001/0012, RD16/0001/0005), and the European Regional Development Fund ("A way to build Europe").Background: Multimorbidity is associated with negative effects both on people's health and on healthcare systems. A key problem linked to multimorbidity is polypharmacy, which in turn is associated with increased risk of partly preventable adverse effects, including mortality. The Ariadne principles describe a model of care based on a thorough assessment of diseases, treatments (and potential interactions), clinical status, context and preferences of patients with multimorbidity, with the aim of prioritizing and sharing realistic treatment goals that guide an individualized management. The aim of this study is to evaluate the effectiveness of a complex intervention that implements the Ariadne principles in a population of young-old patients with multimorbidity and polypharmacy. The intervention seeks to improve the appropriateness of prescribing in primary care (PC), as measured by the medication appropriateness index (MAI) score at 6 and 12months, as compared with usual care. Methods/Design: Design:pragmatic cluster randomized clinical trial. Unit of randomization: family physician (FP). Unit of analysis: patient. Scope: PC health centres in three autonomous communities: Aragon, Madrid, and Andalusia (Spain). Population: patients aged 65-74years with multimorbidity (≥3 chronic diseases) and polypharmacy (≥5 drugs prescribed in ≥3months). Sample size: n=400 (200 per study arm). Intervention: complex intervention based on the implementation of the Ariadne principles with two components: (1) FP training and (2) FP-patient interview. Outcomes: MAI score, health services use, quality of life (Euroqol 5D-5L), pharmacotherapy and adherence to treatment (Morisky-Green, Haynes-Sackett), and clinical and socio-demographic variables. Statistical analysis: primary outcome is the difference in MAI score between T0 and T1 and corresponding 95% confidence interval. Adjustment for confounding factors will be performed by multilevel analysis. All analyses will be carried out in accordance with the intention-to-treat principle. Discussion: It is essential to provide evidence concerning interventions on PC patients with polypharmacy and multimorbidity, conducted in the context of routine clinical practice, and involving young-old patients with significant potential for preventing negative health outcomes. Trial registration: Clinicaltrials.gov, NCT02866799Publisher PDFPeer reviewe