The Role of Heparin in Postural Orthostatic Tachycardia Syndrome and Other Post-Acute Sequelae of COVID-19.

The therapeutic management and short-term consequences of the coronavirus disease 2019 (COVID-19) are well known. However, COVID-19 post-acute sequelae are less known and represent a public health problem worldwide. Patients with COVID-19 who present post-acute sequelae may display immune dysregulation, a procoagulant state, and persistent microvascular endotheliopathy that could trigger microvascular thrombosis. These elements have also been implicated in the physiopathology of postural orthostatic tachycardia syndrome, a frequent sequela in post-COVID-19 patients. These mechanisms, directly associated with post-acute sequelae, might determine the thrombotic consequences of COVID-19 and the need for early anticoagulation therapy. In this context, heparin has several potential benefits, including immunomodulatory, anticoagulant, antiviral, pro-endothelial, and vascular effects, that could be helpful in the treatment of COVID-19 post-acute sequelae. In this article, we review the evidence surrounding the post-acute sequelae of COVID-19 and the potential benefits of the use of heparin, with a special focus on the treatment of postural orthostatic tachycardia syndrome.

[Eradication of poliomyelitis in Spain: What has happened in the last decade?] / Erradicación de la poliomielitis en España: ¿qué ha pasado en la última década?

On the 60th anniversary of the initiation of the polio vaccination campaign in Spain, the significant milestone in achieving disease control is highlighted. There has been a shift from an incidence of over 2,000 yearly cases in the 1960s to a sustained absence of wild poliovirus (WPV) since 1988. Despite the observed negative impact on polio vaccination coverage at the onset of the COVID-19 pandemic, these rates gradually recovered, reaching 98.2% in primary vaccination in 2022. Over the past decade, two essential elements have been identified to maintain the goal of polio elimination and that reinforces the importance of sustaining high vaccination coverage: robust epidemiological surveillance systems and a swift response to alerts to protect the vulnerable population and prevent virus reintroduction. In order to achieve eradication, it is crucial to interrupt international transmission and maintain continuous high-quality surveillance and effective coordination across different levels in response to any detection of PV, wild or vaccine derived. This article aimed to provide a comprehensive view of the polio eradication situation in Spain, focusing on the key events that occurred in the last decade and the present and future challenges.

hito en el control de la enfermedad que ha supuesto el cambio desde una incidencia de más de 2.000 casos anuales en la década de los 60 a una ausencia mantenida de poliovirus (PV) salvaje desde 1988. A pesar del impacto negativo observado en las coberturas de vacunación de poliomielitis al inicio de la pandemia de la COVID-19, estas se fueron recuperando, alcanzando un 98,2% en la primovacunación en 2022. En la última década se han identificado dos elementos esenciales para mantener el objetivo de eliminación de la poliomielitis y que, además, refuerzan la importancia de mantener altas coberturas de vacunación: los sistemas de vigilancia epidemiológica robustos y la respuesta rápida a las alertas para proteger a la población vulnerable y evitar la circulación del virus. Es crucial interrumpir la transmisión a nivel internacional para lograr la erradicación, manteniendo una vigilancia continua de alta calidad y una coordinación efectiva entre los diferentes niveles frente a cualquier detección de PV, ya sea salvaje o derivado de la vacuna. Este artículo tuvo como objetivo proporcionar una visión integral sobre la situación de erradicación de la poliomielitis en España, centrándose en los eventos clave ocurridos en la última década y en los retos presentes y futuros.

Postural orthostatic tachycardia syndrome and other related dysautonomic disorders after SARS-CoV-2 infection and after COVID-19 messenger RNA vaccination.

The COVID-19 pandemic has caused a challenge for our society due to the post-acute sequelae of the disease. Persistent symptoms and long-term multiorgan complications, known as post-acute COVID-19 syndrome, can occur beyond 4 weeks from the onset of the COVID-19 infection. Postural orthostatic tachycardia syndrome (POTS) is considered a variety of dysautonomia, which is characterized by chronic symptoms that occur with standing and a sustained increase in heart rate, without orthostatic hypotension. POTS can lead to debilitating symptoms, significant disability, and impaired quality of life. In this narrative review, the etiopathogenic basis, epidemiology, clinical manifestations, diagnosis, treatment, prognosis, and socioeconomic impact of POTS, as well as other related dysautonomic disorders, after COVID-19 infection and SARS-CoV-2 postvaccination, were discussed. After a search conducted in March 2023, a total of 89 relevant articles were selected from the PubMed, Google Scholar, and Web of Science databases. The review highlights the importance of recognizing and managing POTS after COVID-19 infection and vaccination, and the approach to autonomic disorders should be known by all specialists in different medical areas. The diagnosis of POTS requires a comprehensive clinical assessment, including a detailed medical history, physical examination, orthostatic vital signs, and autonomic function tests. The treatment of POTS after COVID-19 infection or vaccination is mainly focused on lifestyle modifications, such as increased fluid and salt intake, exercise, and graduated compression stockings. Pharmacotherapy, such as beta-blockers, fludrocortisone, midodrine, and ivabradine, may also be used in selected cases. Further research is needed to understand the underlying mechanisms, risk factors, and optimal treatment strategies for this complication.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson's disease, or epilepsies. Nowadays, recommendations of the American College of Medical Genetics and Genomics strongly recommend applying next generation sequencing (NGS) as a first-line test in patients with these disorders. Whole exome sequencing (WES) is widely regarded as the current technology of choice for diagnosing monogenic ND. The introduction of NGS allows for rapid and inexpensive large-scale genomic analysis and has led to enormous progress in deciphering monogenic forms of various genetic diseases. The simultaneous analysis of several potentially mutated genes improves the diagnostic process, making it faster and more efficient. The main aim of this report is to discuss the impact and advantages of the implementation of WES into the clinical diagnosis and management of ND. Therefore, we have performed a retrospective evaluation of WES application in 209 cases referred to the Department of Biochemistry and Molecular Genetics of the Hospital Clinic of Barcelona for WES sequencing derived from neurologists or clinical geneticists. In addition, we have further discussed some important facts regarding classification criteria for pathogenicity of rare variants, variants of unknown significance, deleterious variants, different clinical phenotypes, or frequency of actionable secondary findings. Different studies have shown that WES implementation establish diagnostic rate around 32% in ND and the continuous molecular diagnosis is essential to solve the remaining cases.

[Updated cost of vaccinating throughout life in Spain in 2023]. / Actualización del coste de vacunar a lo largo de toda la vida en España para el año 2023.

OBJECTIVE: Four modifications were introduced in the Lifetime Vaccination Schedule of the Interterritorial Council of the National Health System (CISNS) in 2023.The aim of this study was to estimate the cost of vaccinating a healthy person and people with certain risk conditions throughout life in Spain and to compare with a previous estimation from 2019. METHODS: A descriptive study of the cost of administering the vaccines included in the Lifetime Vaccination Schedule for the year 2023 and in the schedule for risk groups was carried out. RESULTS: The estimated cost to immunize a healthy person throughout life in 2023 is 1,541.56€ for a woman and 1,498.18€ for a men, which corresponds to an increase of 125% compared to the cost in 2019. The risk conditions with the highest cost are asplenia and complement deficiency and primary immunodeficiencies, with a cost of 3,159.82 euros and 2,566 euros respectively on average. The cost of vaccinating the whole healthy population in Spain in a year is around 565M€. Moreover, the cost of vaccinating the new-borns cohort of 2023 was estimated at 500M€. CONCLUSIONS: Despite the cost increase in 2023, immunization is still a very cheap intervention, considering the economic impact of immunopreventable diseases in the society. The relative low cost of immunization throughout life makes this health intervention useful and worthwhile.

OBJECTIVE: En el calendario de vacunación a lo largo de toda la vida del Consejo Interterritorial del Sistema Nacional de Salud (CISNS) se introdujeron cuatro modificaciones importantes en 2023. El objetivo de este estudio fue estimar el coste de la vacunación a lo largo de toda la vida a una persona sana y a ciertos grupos de riesgo tomando como referencia el calendario de 2023 y compararlo con una estimación previa de 2019. METHODS: Se realizo un estudio descriptivo del coste de administrar las vacunas incluidas en el calendario de vacunación a lo largo de toda la vida para el año 2023 y en el calendario para grupos de riesgo. RESULTS: El coste estimado de vacunar a una persona sana a lo largo de toda la vida en 2023 es de 1.541,56 euros en mujeres y 1.498,18 euros en hombres, lo que supondría un incremento del 125% con respecto al coste en 2019. Las condiciones de riesgo con el coste más alto son asplenia además de déficit del complemento e inmunodeficiencias primarias, suponiendo 3.159.82 euros y 2.566 euros, respectivamente, de media. Vacunar a toda la población sana en España en un año costaría unos 565 millones de euros y vacunar a la cohorte de recién nacidos de 2023 a lo largo de toda la vida unos 500 millones de euros. CONCLUSIONS: A pesar del incremento en el coste en 2023, considerando el impacto económico de las enfermedades prevenibles por vacunación en la sociedad, la vacunación sigue siendo una intervención barata que aporta múltiples beneficios.

Beyond the exponential horn: a bush-cricket with ear canals which function as coupled resonators.

Bush-crickets have dual-input, tympanal ears located in the tibia of their forelegs. The sound will first of all reach the external sides of the tympana, before arriving at the internal sides through the bush-cricket's ear canal, the acoustic trachea (AT), with a phase lapse and pressure gain. It has been shown that for many bush-crickets, the AT has an exponential horn-shaped morphology and function, producing a significant pressure gain above a certain cut-off frequency. However, the underlying mechanism of different AT designs remains elusive. In this study, we demonstrate that the AT of the duetting Phaneropterinae bush-cricket Pterodichopetala cieloi function as coupled resonators, producing sound pressure gains at the sex-specific conspecific calling song frequency, and attenuating the remainder-a functioning mechanism significantly different from an exponential horn. Furthermore, it is demonstrated that despite the sexual dimorphism between the P. cieloi AT, both male and female AT have a similar biophysical mechanism. The analysis was carried out using an interdisciplinary approach, where micro-computed tomography was used for the morphological properties of the P. cieloi AT, and a finite-element analysis was applied on the precise tracheal geometry to further justify the experimental results and to go beyond experimental limitations.

[Analysis of vaccination strategy against COVID-19 in Spain. The scientific basics (may 2022).] / Análisis de las estrategias de vacunación frente a la COVID-19 en España y las bases científicas sobre las que se han sustentado (mayo 2022).

After about a year and a half (at the moment these lines are being written) since the start of the massive vaccination campaign in which, thanks to the high coverage achieved in all groups eligible for vaccination, it has been possible to significantly reduce the morbidity and mortality due to COVID-19, it is important to review the scientific basics that have supported the recommendations implemented to date and those that could be adopted in the near future taking into consideration the epidemiological situation. The objective of this article is, therefore, to address the foundations of some of the technical decisions proposed by the Committee on Programme and Registry of Vaccinations (National Immunization Technical Advisory Group in Spain) and the Technical Working Group on Vaccination against COVID-19. Throughout the eleven updates of the Vaccination Strategy against COVID-19 in Spain, several issues pose intense debate as the vaccination intervals between doses, the convenience of using different types of vaccines, the use of heterologous schemes of vaccination, the benefits of hybrid immunity and the use of a fourth dose (second booster dose) for selected populations. All this without forgetting essential aspects of safety of vaccines. This article is divided into the following sections: Vaccination intervals; Heterologous or mixed scheme; Hybrid immunity (vaccination after infection and infection after vaccination [breakthrough]); Second booster dose.

Una vez transcurrido alrededor de un año y medio (en el momento de escribir estas líneas) desde el inicio de la campaña masiva de vacunación en la que, gracias a las altas coberturas alcanzadas en todos los grupos diana para vacunación, se ha conseguido reducir de manera muy significativa la morbimortalidad por la COVID-19, es importante revisar las bases científicas que han sustentado las recomendaciones implantadas hasta la fecha y aquellas que podrían adoptarse en un futuro próximo según la situación epidemiológica. El objetivo del presente artículo fue, por tanto, abordar los fundamentos de algunas de las decisiones técnicas propuestas desde la Ponencia de Programa y Registro de Vacunaciones y el Grupo de Trabajo Técnico de Vacunación frente a la COVID-19. A lo largo de once actualizaciones de la Estrategia de Vacunación frente a la COVID-19 en España, han sido objeto de intenso debate varias cuestiones relativas a los intervalos de vacunación entre dosis, la conveniencia del uso de diferentes tipos de vacunas, las combinaciones de las mismas, los beneficios de la inmunidad híbrida y el uso de una cuarta dosis (segunda dosis de recuerdo) para poblaciones seleccionadas. Todo ello sin olvidar aspectos esenciales de su seguridad. Este artículo se divide en los siguientes apartados: Intervalos de vacunación; Pauta heteróloga o mixta; Inmunidad híbrida (vacunación tras la infección e infección tras vacunación [breakthrough]); Segunda dosis de recuerdo.

Epidemiologic Features and Control Measures during Monkeypox Outbreak, Spain, June 2022.

During June 2022, Spain was one of the countries most affected worldwide by a multicountry monkeypox outbreak with chains of transmission without identified links to disease-endemic countries. We provide epidemiologic features of cases reported in Spain and the coordinated measures taken to respond to this outbreak.

[Impact of vaccination against COVID-19 in children aged 5-11 years: a mathematical model.] / Estimación del impacto de la vacunación frente a la COVID-19 en la población infantil de 5-11 años.

On November 25, 2021, the European Medicines Agency (EMA) authorized the presentation of Comirnaty vaccine (Pfizer-Biontech) for children between 5 and 11 years of age. In our country, this vaccination began on December 15, after it was approved by the Public Health Commission. A mathematical model has been developed to evaluate the possible impact of this vaccination and contribute to assessing the risk-benefit balance. The model parameters were adjusted including all those characteristics that may influence the impact of childhood vaccination. The results indicate this vaccination involves a significant reduction in the number of infections, and to a lesser extent in the number of hospitalizations and deaths. This reduction will be more important in a future epidemic wave, when this population has been fully vaccinated. Mathematical models can be very powerful tools to predict the impact of vaccination in different epidemiological situations, and help to adjust vaccination programs to be more efficient.

El 25 de noviembre de 2021 la Agencia Europea del Medicamento (EMA) autorizó la vacuna Comirnaty (Pfizer-Biontech) en su presentación infantil para la población entre 5 y 11 años de edad. En nuestro país esta campaña se inició el 15 de diciembre, tras su aprobación por la Comisión de Salud Pública. Se ha desarrollado un modelo matemático para evaluar el posible impacto de la vacunación en esta población y contribuir a evaluar el balance riesgo-beneficio. Se ajustaron los parámetros del modelo original incluyendo todas aquellas características que pueden influir en el impacto de la vacunación infantil. Los resultados indican que vacunar a esta población supone una reducción destacable en el número de infecciones, y en menor medida, en el número de hospitalizaciones y fallecimientos. Esta reducción será más importante en una onda epidémica futura, cuando la población infantil ya esté vacunada con la pauta completa. Los modelos matemáticos pueden ser herramientas muy potentes para predecir el impacto de la vacunación en diferentes situaciones epidemiológicas, y ayudar a ajustar los programas de vacunación para que sean más eficientes.

[Predictions of three mathematical models related with the COVID-19 Vaccination Strategy in Spain. June 2021.] / Predicciones de tres modelos matemáticos en relación a la estrategia de vacunación frente a la COVID-19 en España. Junio de 2021.

The Ministry of Health has coordinated three studies that have estimated the impact of the COVID-19 Vaccination Strategy in Spain. The models aim to help how to establish priority population groups for vaccination, in an initial context of dose limitation. With the same epidemiological and vaccine information, the results of this three different mathematical models point in the same direction: combined with physical distancing, staggered vaccination, starting with the high risk groups, would prevent 60% of infections, 42% of hospitalizations and 60% of mortality in the population. These models, which can be adapted to the new available scientific evidence, are dynamic and powerful tools for the evaluation and adjustment of immunization programs, promoting research on this field, and helping to achieve more efficient results in health.

El Ministerio de Sanidad ha coordinado tres estudios que han estimado el impacto de la Estrategia de Vacunación frente a COVID-19 en España. El objetivo era que los modelos ayudaran a establecer los grupos de población prioritarios para la vacunación, en un contexto inicial de limitación de dosis. A partir de la misma información epidemiológica y de vacunas se han elaborado tres modelos matemáticos distintos cuyos resultados apuntan en la misma dirección: combinada con el distanciamiento físico, la vacunación escalonada, empezando por los grupos de mayor riesgo de complicaciones, evitaría el 60% de las infecciones, el 42% de las hospitalizaciones y el 60% de la mortalidad en la población. Estos modelos, que pueden adaptarse a la nueva evidencia científica disponible, son herramientas dinámicas y potentes para la evaluación y el ajuste de los programas de vacunación, impulsando el desarrollo de este campo de investigación, y ayudando a lograr resultados más eficientes en salud.

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

BACKGROUND: Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly heterogeneous and both genetic and environmental factors play an important role in many of them. The introduction of next generation sequencing (NGS) has lead to the detection of genetic variants in several genetic diseases. The main aim of this report is to discuss the impact and advantages of the implementation of NGS in the diagnosis of NDDs. Herein, we report diagnostic yields of applying whole exome sequencing in 87 families affected by NDDs and additional data of whole genome sequencing (WGS) from 12 of these families. RESULTS: The use of NGS technologies allowed identifying the causative gene alteration in approximately 36% (31/87) of the families. Among them, de novo mutation represented the most common cause of genetic alteration found in 48% (15/31) of the patients with diagnostic mutations. The majority of variants were located in known neurodevelopmental disorders genes. Nevertheless, some of the diagnoses were made after the use of GeneMatcher tools which allow the identification of additional patients carrying mutations in THOC2, SETD1B and CHD9 genes. Finally the use of WGS only allowed the identification of disease causing variants in 8% (1/12) of the patients in which previous WES failed to identify a genetic aetiology. CONCLUSION: NGS is more powerful in identifying causative pathogenic variant than conventional algorithms based on chromosomal microarray as first-tier test. Our results reinforce the implementation of NGS as a first-test in genetic diagnosis of NDDs.

Evaluation of vaccination strategies for the metropolitan area of Madrid via agent-based simulation.

OBJECTIVE: We analyse the impact of different vaccination strategies on the propagation of COVID-19 within the Madrid metropolitan area, starting on 27 December 2020 and ending in Summer of 2021. MATERIALS AND METHODS: The predictions are based on simulation using EpiGraph, an agent-based COVID-19 simulator. We first summarise the different models implemented in the simulator, then provide a comprehensive description of the vaccination model and define different vaccination strategies. The simulator-including the vaccination model-is validated by comparing its results with real data from the metropolitan area of Madrid during the third COVID-19 wave. This work considers different COVID-19 propagation scenarios for a simulated population of about 5 million. RESULTS: The main result shows that the best strategy is to vaccinate first the elderly with the two doses spaced 56 days apart; this approach reduces the final infection rate by an additional 6% and the number of deaths by an additional 3% with respect to vaccinating first the elderly at the interval recommended by the vaccine producer. The reason is the increase in the number of vaccinated individuals at any time during the simulation. CONCLUSION: The existing level of detail and maturity of EpiGraph allowed us to evaluate complex scenarios and thus use it successfully to help guide the strategy for the COVID-19 vaccination campaign of the Spanish health authorities.

An imported case of vaccine-derived poliovirus type 2, Spain in the context of the ongoing polio Public Health Emergency of International Concern, September 2021.

The monthly retrospective search for unreported acute flaccid paralysis (AFP) cases conducted as a complementary component of the Spanish AFP surveillance system identified a case of AFP in a child admitted in Spain from Senegal during August 2021. Vaccine-derived poliovirus 2 was identified in the stool in September 2021. We present public health implications and response undertaken within the framework of the National Action Plan for Polio Eradication and the Public Health Emergency of International Concern.

[Vaccination against COVID-19 in working groups.] / La vacunación frente a la COVID-19 en colectivos laborales.

The Spanish Vaccination Strategy against COVID-19 has been prepared by a multidisciplinary Technical Working Group. It has considered the situation of the different socio-occupational groups against COVID-19, having assessed the criteria of risk of exposure, transmission, serious illness and death, negative social and economic impact, feasibility and acceptability of vaccination, in addition to taking into consideration the ethical pillars that govern the Strategy. In the working population, priority has been given to first-line health and social-healthcare personnel in the first stage and, later, to the rest of healthcare and social-healthcare personnel (Groups 1, 2 and 3 of the Strategy). Group 6 included emergency personnel, security and army forces, and early childhood, special, primary and secondary education teaching personnel, due to the role that they played during the state of alarm, the significant risk of exposure, and the essential role they play in maintaining the proper functioning of society. This paper describes the stages of vaccination and their prioritization by groups in the labour context, and shows the strategy by age groups, together with the prioritization of Group 6, has been shown to be efficient and to reach workers with high risk of COVID-19 early.

La Estrategia de Vacunación frente a COVID-19 en España ha sido elaborada por un Grupo de Trabajo Técnico multidisciplinar, que ha tenido en cuenta la situación de los diferentes grupos sociolaborales frente a COVID-19, habiendo valorado los criterios de riesgo de exposición, transmisión, enfermedad grave y muerte, impacto social y económico nega-tivo, factibilidad y aceptabilidad de la vacunación, además de tener en consideración los pilares éticos que rigen la Estrategia. Por lo que se refiere a la población trabajadora, se priorizó al personal sanitario y sociosanitario de primera línea en una primera etapa y, posteriormente, al resto de personal sanitario y sociosanitario (Grupos 1, 2 y 3 de la Estrategia). En el Grupo 6 se incluyó al personal de urgencias y emergencias, Fuerzas y Cuerpos de Seguridad del Estado y personal docente de educación infantil, especial, primaria y secundaria, por el papel desempeñado durante el estado de alarma, el importante riesgo de exposición, y la función esencial que desempeñan en el mantenimiento del adecuado funcionamiento de la sociedad. En este artículo se describen las etapas de la vacunación y su priorización por grupos en el contexto laboral, y se muestra que la estrategia por grupos de edad, junto con la priorización del Grupo 6, ha demostrado ser eficiente y alcanzar de forma precoz a los trabajadores con mayor riesgo de COVID-19.

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting at a genetic cause. Here we present a case report of two siblings affected with severe ID and other comorbidities, who embarked on a genetic testing odyssey until diagnosis was reached by using whole genome sequencing (WGS). WGS identified a maternally inherited novel missense variant (NM_031466.7:c.1037G > A; p.Gly346Glu) and a paternally inherited 90 kb intragenic deletion in TRAPPC9 gene. This report demonstrates the clinical utility of WGS in patients who remain undiagnosed after whole exome sequencing.

[Vaccination confidence against influenza in Spain: reasons of hesitancy discourses and attitudes in general population and healthcare workers.] / La confianza en la vacunación frente a la gripe en España: Discursos y actitudes reticentes en población general y profesionales sanitarios.

OBJECTIVE: Influenza is a huge public health problem and vaccination is the best prevention tool. Vaccination coverage of target population is still far from the established objectives. The aim was to delve into the most important factors and actors influencing behaviors of influenza vaccine hesitancy in Spain from a qualitative perspective. METHODS: Qualitative research through one discussion group, three experiential groups and thirteen in-depth interviews was conducted with health professionals and general population in Madrid and Valencia in 2019. RESULTS: Influenza is considered a common, low-danger disease. Confusion due to misinformation and lack of knowledge and a high fear of vaccine adverse effects has been identified. The different conviction with which professionals recommend the vaccine has emerged, and the low awareness of the transmitting role of the disease was found in general population and professionals. CONCLUSIONS: The findings of this study suggest the importance and urgency of developing well-structured and coordinated communication strategies, with common key messages and channels adapted to different populations from the deficiencies and needs identified. Strategic work with healthcare professionals is an essential factor in the final decision to get vaccinated against influenza.

OBJETIVO: La gripe es un importante problema de salud pública y la vacunación es su mejor herramienta de prevención. Las coberturas de vacunación en la población diana aún quedan lejos de los objetivos fijados. El objetivo de este estudio fue profundizar, desde una perspectiva cualitativa, en los factores y actores más importantes que están influyendo en los comportamientos de reticencia hacia la vacunación frente a la gripe en España. METODOS: Estudio cualitativo mediante un grupo de discusión, cuatro grupos experienciales y trece entrevistas en profundidad realizado en 2019 en Madrid y Valencia a profesionales sanitarios y población general. RESULTADOS: La gripe es considerada una enfermedad común de baja peligrosidad. Se ha identificado confusión por desinformación y falta de conocimientos, además de un elevado temor a los efectos adversos de la vacuna. Ha emergido en profesionales el diferente grado de convencimiento con que prescriben la vacunación y la baja conciencia del papel transmisor de la enfermedad en población y profesionales. CONCLUSIONES: Los hallazgos de este trabajo orientan hacia la necesidad, importancia y urgencia de elaborar estrategias de comunicación bien estructuradas y coordinadas, con mensajes comunes y canales de difusión adaptados a diferentes poblaciones, en función de las carencias y necesidades identificadas. El trabajo estratégico con los profesionales sanitarios es un elemento esencial en la decisión final de vacunarse frente a la gripe.

[2nd Seroprevalence Study in Spain, 2017-2018.] / 2º Estudio de Seroprevalencia en España, 2017-2018.

Vaccination programmes are one of the public health measures that have the greatest impact on reducing the burden of disease, mortality and associated costs of a large number of communicable diseases. The success of vaccination is due to the use of highly effective and safe products, but also to well-functioning surveillance systems and epidemiological studies realised. Seroprevalence studies or surveys are a powerful assessment tool providing accurate information on the frequency, distribution and dynamics of communicable diseases. More than 20 years have passed since the first study was carried out in Spain, and this second seroprevalence study is essential to know the impact of vaccination programmes and the prevalence of immunity of the general population against immunopreventable diseases and other diseases of public health interest. The pathologies included in the study are: poliomyelitis, diphtheria, tetanus, pertussis, measles, rubella, mumps, varicella, invasive meningococcal serogroup C disease, hepatitis A, hepatitis B and D, hepatitis C, hepatitis E and human immunodeficiency virus (HIV) infection. Despite the current pandemic, this information can be used by technicians and decision-makers to adjust existing vaccination programmes and contribute to improving the health of the population in our country.

Los programas de vacunación son una de las medidas de Salud Pública con impacto en la disminución de la carga de enfermedad, mortalidad y los costes asociados de un gran número de enfermedades transmisibles. El éxito de la vacunación se debe al uso de productos muy efectivos y seguros, pero también al buen funcionamiento de los sistemas de vigilancia y a la realización de estudios epidemiológicos. Los estudios o encuestas de seroprevalencia son una herramienta potente de evaluación que ofrece información precisa de la frecuencia, distribución y dinámica de las enfermedades transmisibles. Han pasado más de veinte años desde el primer estudio realizado en España, y este segundo estudio de seroprevalencia es fundamental para conocer el impacto de los programas de vacunación y la prevalencia de inmunidad de la población general frente a las enfermedades inmunoprevenibles y otras de interés para la Salud Pública. Las patologías incluidas en el estudio son: poliomielitis, difteria, tétanos, tosferina, sarampión, rubeola, parotiditis, varicela, enfermedad meningocócica invasora por serogrupo C, hepatitis A, hepatitis B y D, hepatitis C, hepatitis E e infección por virus de la inmunodeficiencia humana (VIH). A pesar del momento pandémico actual, disponer de esta información puede servir a técnicos y decisores para ajustar los programas de vacunación existentes y contribuir a la mejora de la salud de la población en nuestro país.

A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited disease, characterized by germ-line variants in RET proto-oncogene. Variants are frequently located in the RET extracellular cysteine-rich region domain, mainly affecting cysteines which are replaced by an alternative amino acid, resulting in a mispaired cysteine and the generation of RET dimers. We describe a novel c.1765A > T variant of RET proto-oncogene in a family with medullary thyroid carcinoma (MTC) that predicts the creation of an additional cysteine p.(Ser589Cys) in the cysteine-rich domain. In this site only three other punctual variants have been described, giving rise to extra cysteines. We have characterized the clinical phenotype of this family. The index case was a 79-year-old woman with MTC in both thyroid lobes. This variant co-segregates in this family in four affected members. One member was operated on at 31 years of age and already presented MTC, indicating that prophylactic thyroidectomy was appropriated. Variants predicting additional cysteines are not frequent in RET, and when present, they allow us to understand their implication in the disease. According to clinical data obtained in this family, this variant could be categorized as a moderate-risk of the disease.