Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. / Epidemiología y caracterización molecular de las miopatías genéticas en adultos en una región del sureste de España.

INTRODUCTION: Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature. AIMS: To enhance understanding of both the epidemiology and genetics of these disorders within the province of Alicante, situated in southeastern Spain. MATERIAL AND METHODS: Between 2020 and 2022, a prospective observational study was conducted at the Alicante Health Area-General Hospital, enrolling patients aged 16 years or older with suspected genetic myopathies. Sociodemographic, clinical, and genetic data were collected. The reference date for prevalence calculation was established as December 31, 2022. Official demographic data of the health area were used to set the population at risk. RESULTS: In total, 83 patients were identified with confirmed genetically related myopathy, resulting in an overall prevalence of 29.59 cases per 100,000 inhabitants. The diagnostic yield for molecular genetic testing was found to be 69.16%. The most prevalent genetic myopathies identified included myotonic dystrophy (27.5%), dystrophinopathies (15.7%), and facioscapulohumeral dystrophy (15.7%). CONCLUSION: The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies.

TITLE: Epidemiología y caracterización molecular de las miopatías genéticas en adultos en una región del sureste de España.Introducción. Las miopatías genéticas constituyen un conjunto de enfermedades raras que impactan significativamente en la funcionalidad y la calidad de vida del paciente. Un diagnóstico temprano de las miopatías genéticas puede prevenir complicaciones futuras y proporcionar a las familias asesoramiento genético. A pesar del impacto sustancial de las miopatías genéticas en población adulta, la epidemiología global de estos trastornos está inadecuadamente abordada en la bibliografía. Objetivos. Mejorar el entendimiento tanto de la epidemiología como de la genética de estos trastornos en la provincia de Alicante, situada en el sureste de España. Material y métodos. Entre 2020 y 2022, se llevó a cabo un estudio observacional prospectivo en el área de salud Alicante-Hospital General, que incluyó a pacientes de 16 años o más con sospecha de miopatías genéticas. Se recopilaron datos sociodemográficos, clínicos y genéticos. La fecha de referencia para el cálculo de la prevalencia se estableció el 31 de diciembre de 2022. Se utilizaron datos demográficos oficiales del área de salud para establecer la población en riesgo. Resultados. En total, se identificó a 83 pacientes con miopatía genéticamente confirmada, lo que dio lugar a una prevalencia total de 29,59 casos por cada 100.000 habitantes. El rendimiento diagnóstico de las pruebas genéticas moleculares fue del 69,16%. Las miopatías genéticas más frecuentes incluyeron la distrofia miotónica (27,5%), las distrofinopatías (15,7%) y la distrofia facioescapulohumeral (15,7%). Conclusión. La prevalencia de las miopatías genéticas puede variar considerablemente dependiendo de la región geográfica y la población estudiada. El análisis del rendimiento diagnóstico sugiere que los estudios genéticos deberían considerarse útiles en el diagnóstico de las miopatías genéticas.

Ethically governing artificial intelligence in the field of scientific research and innovation.

Artificial Intelligence (AI) has become a double-edged sword for scientific research. While, on one hand, the incredible potential of AI and the different techniques and technologies for using it make it a product coveted by all scientific research centres and organisations and science funding agencies. On the other, the highly negative impacts that its irresponsible and self-interested use is causing, or could cause, make it a controversial tool, attracting strong criticism from those involved in the different sectors of research. This study aims to delve into the current and virtual uses of AI in scientific research and innovation in order to provide guidelines for developing and implementing a governance system to promote ethical and responsible research and innovation in the field of AI.

[COVID-19 in the city of Madrid and vulnerability. Analysis of the first two waves.] / COVID-19 en la ciudad de Madrid y vulnerabilidad. Análisis de las dos primeras olas.

OBJECTIVE: The advance of the pandemic in the large cities of the world with great virulence and the apparent heterogeneous distribution by factors of vulnerability, led us to propose this work. The objective of this study was to relate COVID-19 infection rates to the social vulnerability of the city of Madrid by district, in two different episodes, spring 2020 and summer 2020. METHODS: Analytical cross-sectional study. Taking sociodemographic data of the entire population of the city of Madrid between the months of April and October 2020, together with the cumulative incidence rates of COVID-19, a linear regression analysis, correlation and factor analysis was carried out, relating the cumulative incidence rate of COVID-19 and the vulnerability indicator of the districts of the city of Madrid. RESULTS: The results showed important differences between the two episodes of the pandemic: on one hand, the first had more relationship with health factors, while in the second, a relationship appeared with the groups of greater social vulnerability, territorially located in the South-East of the City and related in this case to social factors rather than health. Thus we see that the TIA x 100,000 in the first episode in Chamberí and Usera -two extreme districts in vulnerability- were 896 and 843 cases respectively, while in the second they were 3,708 and 6,258 cases. CONCLUSIONS: The territorial differences in the city become evident with the arrival of a generalised, universal event such as COVID-19, where vulnerability increases for everyone, with greater repercussions in those territories where it already had an impact.

OBJETIVO: El avance de la pandemia en las grandes ciudades del mundo con gran virulencia y la aparente distribución heterogénea por factores de vulnerabilidad, nos llevaron a plantear este trabajo. El objetivo de este estudio fue relacionar las tasas de infección por COVID-19 con la vulnerabilidad social de la ciudad de Madrid por distritos, en dos episodios distintos, primavera del 2020 y verano del 2020. METODOS: Estudio transversal analítico.Tomando los datos sociodemográficos de la totalidad de la población de la ciudad de Madrid entre los meses de abril y octubre de 2020, junto a las tasas de incidencia acumulada de la COVID-19, se realizó un análisis de regresión lineal, correlación y análisis factorial, relacionando la tasa de incidencia acumulada de la COVID-19 y el indicador de vulnerabilidad de los distritos de la ciudad de Madrid. RESULTADOS: Los resultados mostraron diferencias importantes entre los dos episodios de la pandemia: por una parte, el primero tuvo más relación con factores de salud, mientras en el segundo apareció una relación con los colectivos de mayor vulnerabilidad social, territorialmente localizados en la zona Sur-Este de la Ciudad y relacionándose en este caso con factores sociales más que de salud. Así vemos que las TIA x 100.000 en el primer episodio en Chamberí y Usera -dos distritos extremos en vulnerabilidad- fueron de 896 y 843 casos respectivamente, mientras que en el segundo fueron de 3.708 y 6.258 casos. CONCLUSIONES: Las diferencias territoriales de la ciudad de Madrid se hacen patentes ante la llegada de un suceso generalizado y universal como la COVID-19, dónde la vulnerabilidad se acrecienta para todo el mundo, repercutiendo en mayor medida en aquellos territorios donde ya incidía.

[Health, incidence and differences in the territorial vulnerability city of Madrid]. / Salud e incidencia y diferencias en vulnerabilidad territorial de la ciudad de Madrid.

OBJECTIVE: Territoriality is configured as an important axis of inequality. The objective of this study was to determine the level of association between territory and vulnerability, specifying proposals for territorial intervention using key socio-health indicators. METHODS: Analytical cross-sectional study, which combined the analysis of the Health Survey Madrid City 2017 (n=9,513) and the vulnerability-ranking indicator of the same year (n=2,780,197), popu-lation of the city of Madrid in 2017, from the Data Bank of the Madrid City Council), prepared with the hierarchical analysis technique. Sociodemographic and health variables were included, such as self-perception of health status, quality of life in relation to health, tobacco consumption, alcohol, obesity, sedentary lifestyle and mental health (GHQ-12). The relationships were assessed with DE, 95% CI, Spearman correlation, B and ß coefficients of multiple linear regression and the pair-point technique. RESULTS: The links between health and vulnerability were: in health-self-perceived and HRQL, as global health variables, p<0.01 for women with territory and vulnerability; sedentary lifestyle for both sexes, was interpreted with 60-80% by territory and vulnerability; obesity was slightly linked to the te-ritory in women and explained 77%; mental health was not territorially related for the group, but it was significantly related to women, due to 64% of the variance; in tobacco there was a significant territorial link in men and vulnerability in 57%; finally, alcohol had a significant difference in men at the territorial level and explained in 72% in both sexes, inverted. CONCLUSIONS: The results support the behavior of global and specific health indicators with vulnerability, with a disaggregation by sex, which will allow planning adapted to the territory.

OBJETIVO: La territorialidad se configura como un eje importante de desigualdad. El objetivo de este estudio fue determinar el nivel de asociación entre territorio y vulnerabilidad, concretando propuestas de intervención territorial mediante indicadores clave socio-sanitarios. METODOS: Se realizó un estudio transversal analítico, que combinó el análisis de la Encuesta de Salud de la Ciudad de Madrid de 2017 (n=9.513) y el indicador de vulnerabilidad-ranking del mismo año (n=2.780.197, población de la ciudad de Madrid en 2017, procedente del Banco de Datos del Ayuntamiento de Madrid), elaborado con la técnica de análisis jerárquico. Se incluyeron variables sociodemográficas y de salud, como autopercepción del estado de salud, calidad de vida en relación con la salud, consumo de tabaco, alcohol, obesidad, sedentarismo y salud mental (GHQ-12). Las relaciones se valoraron con DE, IC 95%, correlación de Spearman, coeficientes B y ß de regresión lineal múltiple y la técnica de pares de puntos. RESULTADOS: Los vínculos entre salud y vulnerabilidad fueron: en salud-autopercibida y CVRS, como variables globales de salud, p<0,01 para las mujeres con territorio y vulnerabilidad; en sedentarismo para ambos sexos, se interpretó con el 60-80% por el territorio y vulnerabilidad; la obesidad se vinculó levemente con el territorio en las mujeres y explicó el 77%; la salud mental no se relacionó territorialmente para el conjunto, pero sí de forma significativa en las mujeres, por el 64% de la varianza; en tabaco hubo vínculo significativo territorial en hombres y vulnerabilidad en el 57%; finalmente, el alcohol tuvo una diferencia significativa en hombres a nivel territorial y explicó en el 72% en ambos sexos, de forma invertida. CONCLUSIONES: Los resultados avalan el comportamiento de los indicadores globales y específicos de salud con la vulnerabilidad, con una desagregación por sexos, lo cual permitirá una planificación adaptada al territorio.

¿Es el dímero D un marcador confiable de la letalidad durante la COVID-19 en Hispanoamérica? / Is the D-dimer a reliable marker of fatality during COVID-19 in Latin America?

La pandemia causada por el SARS-CoV-2 presenta más de un millón de defunciones de los 28 millones de casos confirmados en todo el mundo. La gravedad de esta infección se determina usando tasa de letalidad, definida como el porcentaje del número de muertes por la infección respecto del total de casos COVID-19 confirmados

The SARS-CoV-2 pandemic presents more of a million deaths out of 28 million cases confirmed worldwide. The severity of this infection is determined using case fatality rate, defined as the percentage of the number of deaths per infection with respect to total COVID-19 cases confirmed

Wnt9a deficiency discloses a repressive role of Tcf7l2 on endocrine differentiation in the embryonic pancreas.

Transcriptional and signaling networks establish complex cross-regulatory interactions that drive cellular differentiation during development. Using microarrays we identified the gene encoding the ligand Wnt9a as a candidate target of Neurogenin3, a basic helix-loop-helix transcription factor that functions as a master regulator of pancreatic endocrine differentiation. Here we show that Wnt9a is expressed in the embryonic pancreas and that its deficiency enhances activation of the endocrine transcriptional program and increases the number of endocrine cells at birth. We identify the gene encoding the endocrine transcription factor Nkx2-2 as one of the most upregulated genes in Wnt9a-ablated pancreases and associate its activation to reduced expression of the Wnt effector Tcf7l2. Accordingly, in vitro studies confirm that Tcf7l2 represses activation of Nkx2-2 by Neurogenin3 and inhibits Nkx2-2 expression in differentiated ß-cells. Further, we report that Tcf7l2 protein levels decline upon initiation of endocrine differentiation in vivo, disclosing the downregulation of this factor in the developing endocrine compartment. These findings highlight the notion that modulation of signalling cues by lineage-promoting factors is pivotal for controlling differentiation programs.

El control de la vida personal, social y económica: desarrollo y estudio exploratorio de una escala de medida / The Control of Personal, Social and Economic Life: Development and Exploratory Study of a Scale of Measure

En este trabajo se presenta un estudio exploratorio sobre las características psicométricas de un instrumento sobre el control de de la vida personal, analizando su estructura factorial mediante un análisis exploratorio y confirmatorio de sus dimensiones. El tamaño del estudio final fue de 8.504 entrevistas y el criterio básico de estratificación fue el distrito municipal en 21 estratos. Los resultados encontrados señalan que los ítems en cada una de las dimensiones y sus pesos factoriales son aceptables y se relacionan con enunciados genéricos sobre la atribución de control. A su vez, los índices de bondad de ajuste encontrados de cada uno de los modelos propuestos, arrojan información interesante sobre las posibilidades que este cuestionario ofrece.

The purpose of this study was to examine the characteristics psychometrics of a scale on the control of the personal life, analyzing its factorial structure by means of an exploratory and confirmatory analysis of its dimensions. The size of the final study was 8.504 interviews and the basic criterion was of stratification was the municipal district in 21 strata. The results indicate that the items in each of the dimensions and his weight factorials are acceptable and are related to generic terms of reference on the attribution of control. Also, the opposing indexes of goodness of fit of each one of the proposed models, throw interesting information about the possibilities that this scale offers.

Predictors of breast and cervical cancer screening in a Spanish metropolitan area.

BACKGROUND: Gynecological cancers are an important cause of morbidity and mortality. Screening with mammography and Pap smear reduces breast and cervical cancer mortality. Neverthless, high participation rates are needed to ensure their effectiveness. We sought to assess the use of mammography and Pap smear and analyzed predictors of attendance at these cancer screenings in a large metropolitan area in Spain. METHODS: We included women surveyed in the Madrid City Health Survey 2005. Cancer screening included mammography in the last 2 years and Pap smear in the last 3 years. Independent variables included sociodemographics, chronic diseases, and lifestyles. Predictors of mammography or Pap smear attendance were explored using logistic regression. RESULTS: The number of women eligible for mammography, aged >or=40 years, was 2580, and the number eligible for Pap smear, aged 18-69 years, was 3200. Overall, 60.5% and 76.6%, respectively, had received a mammography and Pap smear. Mammography uptake was positively associated with age, higher educational level, and osteomuscular disease. Obesity and unhealthy lifestyle were associated with nonattendance to mammography. Predictors of Pap smear attendance were the same as for mammography. CONCLUSIONS: Attendance at gynecological cancer screening in a large metropolitan area in Spain is acceptable in the age group for which it is recommended. An effort must be made, however, to recruit those women who are less likely to undergo screening, as they are at the highest risk of having these diseases.

Relationship between tobacco consumption and health-related quality of life in adults living in a large metropolitan area.

The aim of this study was to analyze the relationship between health-related quality of life (HRQOL) and tobacco consumption in adult individuals (over the age of 15). The study was based on individual data from the City of Madrid Health Survey (ESCM05). Subjects were divided into three groups according to tobacco consumption: smokers, nonsmokers, and ex-smokers. HRQOL was measured using the COOP/WONCA quality-of-life vignettes. A multivariate adjustment with multinomial logistic regression was made, including the following as covariables: sociodemographic characteristics, comorbidities, drug use, and lifestyles. A total of 7341 individuals were interviewed (53.7% women), with an average age of 46.7 (SD = 19.02) years. The percentage of smokers was 27%, that of ex-smokers was 16.5%, and that of nonsmokers was 56.5%. There were no significant differences between smokers, ex-smokers, and nonsmokers in the raw scores obtained as totals from the COOP/WONCA questionnaire. Multivariate analysis revealed that smokers consume more antidepressant drugs (OR = 1.54, 95% CI = 1.09-2.16) and tranquilizers (OR = 1.91, 95% CI = 1.45-2.51), drink more alcohol (OR = 2.55, 95% CI = 2.11-3.08), get less physical exercise (OR = 1.33, 95% CI = 1.11-1.60), and have a lower quality of life (OR = 1.02, 95% CI = 1.00-1.04) than nonsmokers. Following adjustment for a significant number of covariables, sociodemographic as well as health-related, smokers consume more antidepressant drugs and tranquilizers, drink more alcohol, get less physical exercise, and demonstrate a lower HRQOL than nonsmokers.

Self-perception of health status, mental health and quality of life among adults with diabetes residing in a metropolitan area.

AIM: The study aimed to compare the self-perception of health, physiological distress and health-related quality of life (HRQL) in subjects with and without diabetes residing in a large metropolitan area (the city of Madrid), and to identify the variables associated with the poorest HRQL among diabetes patients. METHODS: In this case-control epidemiological study, we selected 358 patients with diabetes from the Madrid City Health Survey. For every patient, two controls without diabetes were randomly selected from the same database and matched for age, gender and health district. The resultant study population comprised 1074 subjects, who were analyzed according to their self-rated health status, with mental health assessed by the 12-item General Health Questionnaire (GHQ-12) and HRQL by the COOP/WONCA questionnaire. Independent variables included sociodemographic characteristics, lifestyle variables, associated chronic diseases and consumption of medications. Multivariate analyses were conducted using ANCOVA tests. RESULTS: The prevalence of health perceived as fair or poor was 64.12% in those with diabetes vs 38.57% in those without diabetes (P<0.05). The GHQ-12 results showed that mental health was also significantly worse among diabetes sufferers, and the COOP/WONCA questionnaire results indicated significantly poorer HRQL in those with diabetes. The variables that determined a poorer perception of HRQL among diabetes sufferers were female gender, older age, obesity, lack of physical exercise, coexistence of depression, use of sleeping pills, and Alzheimer's and cerebrovascular diseases. CONCLUSION: Self-rated health and psychological well-being, and HRQL, are all considerably poorer among patients with diabetes vs those without diabetes. The poorest quality of life among those with diabetes associated with female gender, depression, lack of exercise and obesity.

Impact of the most frequent chronic health conditions on the quality of life among people aged >15 years in Madrid.

BACKGROUND: This study sought to ascertain to what degree health-related quality of life (HRQL) in the City of Madrid was affected by each of the most frequent chronic health conditions, and the specific quality-of-life (QL) domains on which such health conditions had the greatest impact, taking co-morbidity and socio-demographic variables into account. METHODS: A descriptive, analytical, cross-sectional study was conducted covering 7341 subjects aged >or=16 years in the City of Madrid. Data were collected on self-reported diagnosed morbidity, including hypertension, hypercholesterolaemia, varicose veins, diabetes, chronic asthma/bronchitis, myocardial infarction/angina pectoris, stomach problems, allergy, arthrosis/arthritis or rheumatism, depression/anxiety, cataracts, cerebrovascular accidents (CVACs), chronic constipation, osteoporosis and Alzheimer's disease or dementia. HRQL was measured using the COOP/WONCA questionnaire. The effects of diagnosis, age, social class, gender and the co-morbidity were analysed using a multivariate analysis of covariance (ANCOVA). RESULTS: The chronic health conditions that registered the worst overall mean scores on the COOP/WONCA questionnaire were Alzheimer's disease or dementia, Parkinson's disease, fibromyalgia, CVACs and depression, with scores of over 26 points in all cases. After the introduction of socio-demographic variables in the model, the highest values of Snedecor's F-test corresponds to depression (F = 461.63), 'arthrosis/arthritis or rheumatism' (F = 175.41), Alzheimer's disease or dementia (F = 65.70), gastric disorders (F = 65.17), cancer (F = 43.08) and CVACs (F = 41.65). CONCLUSIONS: Depression and 'arthrosis/arthritis or rheumatism' are the two chronic health conditions, which have the greatest impact on HRQL in Madrid's citizens, therefore is mandatory to propose and implement public health strategies that would reduce the prevalence and morbidity of such disorders.

Dual effects of sodium tungstate on adipocyte biology: inhibition of adipogenesis and stimulation of cellular oxygen consumption.

OBJECTIVE: We have recently shown the in vivo anti-obesity effects of sodium tungstate. In this study, we investigate the in vitro effects of sodium tungstate on adipocyte differentiation and function. METHODS: 3T3-F442A cells were allowed to differentiate in the presence of sodium tungstate, and were analyzed for triglyceride (TG) accumulation, adipocyte differentiation and mitochondrial oxygen consumption. RESULTS: Sodium tungstate treatment of adipose cells decreased TG accumulation and adipocyte differentiation. Expression of key genes for adipocyte function (aP2, ACC, fatty acid synthase (FAS) and lipoprotein lipase (LPL)) and differentiation (CCAAT enhancer-binding protein (C/EBP)alpha and peroxisome proliferator-activated receptor gamma (PPARgamma)) was reduced by sodium tungstate, whereas C/EBPbeta isoform LIP expression level was increased. TG accumulation and changes in C/EBPbeta expression were partially recovered by inactivating the erk1/2 pathway. Finally, tungstate treatment increased the oxygen consumption of adipose cells without changes in the expression of oxidative genes. CONCLUSIONS: Sodium tungstate inhibits adipocyte differentiation by promoting the translation of LIP, a master dominant-negative regulator of this process, and regulates the mitochondrial oxygen consumption of adipose cells. These effects contribute to the anti-obesity activity of sodium tungstate and confirm its potential as a powerful alternative for the treatment of obesity.

Coverage and predictors of influenza vaccination among adults living in a large metropolitan area in Spain: a comparison between the immigrant and indigenous populations.

This study sought to evaluate influenza vaccination coverage in Madrid (Spain). Coverages were estimated for vaccine target groups and special attention was placed on the immigrant population. Individual data from 7341 adults included in the Madrid City Health Survey conducted in 2005 was used. Overall influenza vaccination coverage was 24%. Compliance with age-based influenza vaccine guidelines (>or=65 years) was 63.9%, among those<65 years who had an associated chronic condition, it was 37.9% and 24.1% among HCWs. Immigrants accounted for 12.4% of the sample. Overall crude coverage was significantly lower among immigrants than among the indigenous population (11.2% vs. 25.9%), but once the multivariate analysis had been performed, the association became non-significant. In conclusion, it must be said that all the available evidence indicates an inadequate level of influenza vaccination coverage among HCWs and high-risk subjects <65 years. On the other hand, coverages among subjects aged >or=65 years are acceptable and there is no observable difference in vaccine use between immigrants and indigenous subjects. Strategies that have demonstrated their effectiveness in enhancing vaccination coverages should be applied in Madrid.

[Motives for consultation and demographic characteristics of a community of "undocumented" immigrants in the district of Usera-Villaverde (Madrid)]. / Motivos de consulta y características demográficas de una comunidad de inmigrantes "sin papeles" en el distrito de Usera-Villaverde (Madrid).

OBJECTIVE: The objectives of the present study are to describe to the social particularizations, reasons for consultation and diagnoses conducted in the adult immigrants without regularizing that they went to this doctor's office in the district of Villaverde-Usera (Madrid), excluding the data from obstetrics-gynecology and pediatric. DESIGN: One is a descriptive observational study, based on the registry of the daily activity of the consultation from 1996 to 1999. SETTING: Primary level of attention in the area of influence of the municipal districts of Villaverde-Usera. PARTICIPANTS: 1496 consultations to immigrants without regularizing adults, taken care of in our consultation are described in the mentioned period. MEASUREMENTS AND RESULTS: By means of the registry of daily activity social and demographic variables took shelter, of reason and type of consultation, as well as of the main diagnosis that brought to them to the consultation, en 1496 consultations of illegal immigrants (533 people). 31% of the consultations were new and a 14% of absences to the citation were registered. 67% of the consultations made women, the average age was of 34.9 years and in a 76% it referred like South America origin. The diseases that more consultations generated were acute respiratory infection 18%, depressives disorders 11% and the backache with also a 11%. The 48% the reasons for the consultation were acute and 60% took place to free demand. CONCLUSIONS: The group of consultations taken care of responds to the profile of a young South American woman, that fundamentally consults by acute respiratory infections, and very in proximity by depressive-anxious upheavals and lumbar affections, problems very in relation to his situation of immigrant. The irregularity adds to a risk when making difficult the access, most of the consultations are precise, failing in elevated occasions to the programmed consultation.