¿Existe mayor riesgo de suicidio en pacientes diagnosticados de una enfermedad neurológica? / Do patients diagnosed with a neurological disease present increased risk of suicide?

Introducción: Las enfermedades neurológicas representan la principal causa de discapacidad y la segunda causa de muerte a nivel mundial. El dolor físico y psicológico, la desesperanza y la desconexión con el medio están presentes tras el diagnóstico de numerosos procesos neurológicos y especialmente de las enfermedades neurodegenerativas.DesarrolloExiste un mayor riesgo de suicidio en pacientes con enfermedades neurológicas comunes como la epilepsia, la migraña y la esclerosis múltiple, así como en quienes padecen trastornos degenerativos como la enfermedad de Alzheimer, la enfermedad de Huntington, la esclerosis lateral amiotrófica o la enfermedad de Parkinson. En la mayoría de los casos, la ideación suicida aparece en la etapa próxima al diagnóstico, ante sintomatología invalidante, y/o en pacientes que presentan comorbilidad psiquiátrica (a menudo asociada con dichas dolencias neurológicas).ConclusionesPara una prevención efectiva del suicidio en este grupo de la población debe evaluarse el riesgo principalmente en pacientes recién diagnosticados, ante la expresión de marcada desesperanza, ante sintomatología invalidante y en pacientes que presentan comorbilidad psiquiátrica (especialmente síntomas depresivos). La formación de los especialistas para detectar signos de alerta es fundamental tanto para que puedan hacer un correcto abordaje como para que sean capaces de determinar cuándo es necesaria la valoración de un especialista en psiquiatría. (AU)

Introduction: Neurological diseases are the leading cause of disability and the second leading cause of death worldwide. Physical and psychological pain, despair, and disconnection with the environment are observed after the diagnosis of numerous neurological processes, particularly neurodegenerative diseases.DevelopmentA higher risk of suicide is observed in patients with such common neurological diseases as epilepsy, migraine, and multiple sclerosis, as well as in those with such degenerative disorders as Alzheimer disease, Huntington disease, amyotrophic lateral sclerosis, and Parkinson's disease. In most cases, suicidal ideation appears in the early stages after diagnosis, in the presence of disabling symptoms, and/or in patients with psychiatric comorbidities (often associated with these neurological diseases).ConclusionsEffective suicide prevention in this population group requires assessment of the risk of suicide mainly in newly diagnosed patients, in patients showing unmistakable despair or disabling symptoms, and in patients presenting psychiatric comorbidities (especially depressive symptoms). It is essential to train specialists to detect warning signs in order that they may adopt a suitable approach and determine when psychiatric assessment is required. (AU)

Atmospheric circulation and mortality by unintentional drowning in Spain: from 1999 to 2018.

AIMS: Drowning deaths are a leading cause of unintentional deaths worldwide. Few studies have analysed the role of meteorology in drowning, and with inconclusive results. The aim of this work is to analyse the temporal and geographical distribution of deaths by accidental drowning and submersion in Spain over 20 years, and to assess the relationship between accidental drowning and main atmospheric circulation patterns. METHODS: An ecological study was performed, in which drowning and submersion mortality data from 1999 to 2018, considering demographic variables, were analysed. To study the association with atmospheric circulation we used an ERA5 reanalysis product over the whole European continent and the Climatic Research Unit Time Series (CRU TS) data set. RESULTS: The annual average rate of deaths by accidental drownings was 11.86 deaths per million of habitants in Spain. The incidence in males was four times higher than in females, and when comparing age groups, the rate in the eldest group was the highest. Unintentional drowning deaths were not equally distributed around the country; the provinces with the highest registered standardized drowning death rates were touristic waterfront provinces either in Eastern Spain or in one of the archipelagos. There was a significant relationship between accidental drowning and meteorological variables during summer months, and drowning deaths were spatially correlated with sea-level pressure over the Mediterranean basin. CONCLUSION: Although the mortality rate registered a statistically significant decreasing tendency over the studied period, our results must be taken into consideration to improve the prevention strategies in the country since most of these deaths are avoidable.

Do patients diagnosed with a neurological disease present increased risk of suicide?

INTRODUCTION: Neurological diseases are the leading cause of disability and the second leading cause of death worldwide. Physical and psychological pain, despair, and disconnection with the environment are observed after the diagnosis of numerous neurological processes, particularly neurodegenerative diseases. DEVELOPMENT: A higher risk of suicide is observed in patients with such common neurological diseases as epilepsy, migraine, and multiple sclerosis, as well as in those with such degenerative disorders as Alzheimer disease, Huntington disease, amyotrophic lateral sclerosis, and Parkinson's disease. In most cases, suicidal ideation appears in the early stages after diagnosis, in the presence of disabling symptoms, and/or in patients with psychiatric comorbidities (often associated with these neurological diseases). CONCLUSIONS: Effective suicide prevention in this population group requires assessment of the risk of suicide mainly in newly diagnosed patients, in patients showing unmistakable despair or disabling symptoms, and in patients presenting psychiatric comorbidities (especially depressive symptoms). It is essential to train specialists to detect warning signs in order that they may adopt a suitable approach and determine when psychiatric assessment is required.

Did anomalous atmospheric circulation favor the spread of COVID-19 in Europe?

The current pandemic of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is having negative health, social and economic consequences worldwide. In Europe, the pandemic started to develop strongly at the end of February and beginning of March 2020. Subsequently, it spread over the continent, with special virulence in northern Italy and inland Spain. In this study we show that an unusual persistent anticyclonic situation prevailing in southwestern Europe during February 2020 (i.e. anomalously strong positive phase of the North Atlantic and Arctic Oscillations) could have resulted in favorable conditions, e.g., in terms of air temperature and humidity among other factors, in Italy and Spain for a quicker spread of the virus compared with the rest of the European countries. It seems plausible that the strong atmospheric stability and associated dry conditions that dominated in these regions may have favored the virus propagation, both outdoors and especially indoors, by short-range droplet and aerosol (airborne) transmission, or/and by changing social contact patterns. Later recent atmospheric circulation conditions in Europe (July 2020) and the U.S. (October 2020) seem to support our hypothesis, although further research is needed in order to evaluate other confounding variables. Interestingly, the atmospheric conditions during the Spanish flu pandemic in 1918 seem to have resembled at some stage with the current COVID-19 pandemic.

Do patients diagnosed with a neurological disease present increased risk of suicide? / ¿Existe mayor riesgo de suicidio en pacientes diagnosticados de una enfermedad neurológica?

INTRODUCTION: Neurological diseases are the leading cause of disability and the second leading cause of death worldwide. Physical and psychological pain, despair, and disconnection with the environment are observed after the diagnosis of numerous neurological processes, particularly neurodegenerative diseases. DEVELOPMENT: A higher risk of suicide is observed in patients with such common neurological diseases as epilepsy, migraine, and multiple sclerosis, as well as in those with such degenerative disorders as Alzheimer disease, Huntington disease, amyotrophic lateral sclerosis, and Parkinson's disease. In most cases, suicidal ideation appears in the early stages after diagnosis, in the presence of disabling symptoms, and/or in patients with psychiatric comorbidities (often associated with these neurological diseases). CONCLUSIONS: Effective suicide prevention in this population group requires assessment of the risk of suicide mainly in newly diagnosed patients, in patients showing unmistakable despair or disabling symptoms, and in patients presenting psychiatric comorbidities (especially depressive symptoms). It is essential to train specialists to detect warning signs in order that they may adopt a suitable approach and determine when psychiatric assessment is required.

Método sensible para monitorizar la migración de las células madre mesenquimales de la médula ósea en modelos murinos / A sensitive method for monitoring the migration of mesenchymal stem cells from bone marrow in murine models

OBJETIVO: Las células madre mesenquimales (MSCs) son atractivas en la terapia regenerativa de patologías humanas. En los modelos murinos, en los que se trasplantan MSCs humanas, es muy importante poder distinguir el origen de las MSCs identificadas en los órganos de ratones. El objetivo de este estudio fue determinar el rendimiento del análisis basado en PCR de secuencias Alu humanas para detectar ADN humano después de la infusión de células madre de médula ósea humana (hBMSCs) en ratones inmunodeficientes. MATERIAL Y MÉTODO: Las hBMSCs se obtuvieron de la cabeza femoral de pacientes sometidos a cirugía de reemplazo de cadera. Se infundieron 106 hBMSCs por vía intravenosa mediante inyección en el seno retro-orbitario de ratones NOD/SCID. Después se evaluó la presencia de ADN humano en pulmón, hígado y hueso. RESULTADOS: En mezclas de ADN in vitro, el ADN humano se detectó fácilmente con una buena relación logarítmica-lineal. De manera similar, cuando se mezclaron osteoblastos humanos y de ratón, se detectaron fácilmente 1-10 células humanas entre 105 células de ratón. Asimismo, se detectó el ADN humano en los pulmones 1 y 7 días después de las infusiones celulares en ratones NOD/SCID. Sin embargo, el ADN humano se detectó de manera inconsistente en el hígado y los huesos. CONCLUSIÓN: La detección de secuencias Alu es un procedimiento eficaz para detectar ADN humano. Los resultados confirman que la mayoría de las hBMSCs inyectadas por vía intravenosa quedan atrapadas en los pulmones. Por lo tanto, de cara al tratamiento de trastornos esqueléticos, se necesitan procedimientos para aumentar la migración de dichas células al hueso

OBJETIVE: Mesenchymal stem cells (MSCs) are commonly used in regenerative therapy of human diseases. In murine models, in which human MSCs are transplanted, distinguishing the origin of the identified MSCs in the organs of mice is important. The objective of this study was to determine the performance of PCR-based analysis of human Alu sequences to detect human DNA after infusion of human bone marrow stem cells (hBMSCs) in immunodeficient mice. MATERIAL AND METHOD: HBMSCs were obtained from the femoral head of patients undergoing hip replacement surgery. 106 hBMSCs were infused intravenously by injection into the retro-orbital sinus of NOD/SCID mice. The presence of human DNA in lung, liver and bone was then assessed. RESULTS: In in vitro DNA mixtures, human DNA was easily detected with a good logarithmic-linear relationship. Similarly, when human and mouse osteoblasts were mixed, 1-10 cells were easily detected among 105 mouse cells. Likewise, human DNA was detected in the lungs 1 and 7 days after cell infusions in NOD/SCID mice. However, human DNA was inconsistently detected in the liver and bones. CONCLUSION: Detecting Alu sequences is an effective procedure to observe human DNA. The results confirm that most intravenously injected hBMSCs are trapped in the lungs. Thus, for the treatment of skeletal disorders, procedures are needed to increase the migration of these cells to the bone

Impacto funcional de polimorfismos del gen de la esclerostina sobre la metilación de ADN y la expresión génica / Functional impact of sclerostin gene polymorphisms on DNA methylation and gene expresión

INTRODUCCIÓN: Varios estudios de barrido genómico (GWAS) y otros focalizados en el gen de la esclerostina (SOST) han encontrado que algunos polimorfismos de SOST se asocian con la masa ósea y el riesgo de fracturas. El objetivo de este estudio fue analizar la relevancia funcional de ciertos polimorfismos de la región promotora de SOST, en relación con la expresión y la metilación de dicho gen. MATERIAL Y MÉTODO: Para ello, se determinaron los alelos de los polimorfismos rs851054, rs851056, rs10534024, rs1234612 y se analizó la metilación de ADN de 33 muestras de suero y de hueso, procedentes de pacientes intervenidos para colocar una prótesis de cadera, mediante pirosecuenciación tras conversión con bisulfito. Además, en el hueso se estudió la expresión de SOST. Por último, se clonaron diferentes alelos del promotor de SOST en vectores reporteros dobles con el gen de la luciferasa bajo dicho promotor y el gen de la fosfatasa alcalina bajo un promotor constitutivo. RESULTADOS: El análisis de metilación de la región promotora de SOST en ADN libre en suero y en ADN de hueso no reveló diferencias estadísticamente significativas en relación con los alelos de los polimorfismos analizados (p > 0,05). Sin embargo, las transfecciones con los vectores reporteros mostraron una elevada actividad transcripcional, independientemente del vector utilizado. CONCLUSIÓN: No hemos encontrado una asociación clara entre los distintos alelos y la metilación de ADN de la región promotora del gen SOST. Son necesarios más estudios para determinar los efectos funcionales de los polimorfismos sobre la metilación y expresión del gen de SOST y los efectos sobre la masa ósea

INTRODUCTION: Several genome‐wide association studies (GWAS) and others which focused on the sclerostin gene (SOST)have found that some SOST polymorphisms are associated with bone mass and risk of fractures. This study analyzes thefunctional relevance of certain polymorphisms of the SOST promoter region, and their relationship with the expressionand methylation of this gene. MATERIAL AND METHODS: Alleles of the rs851054, rs851056, rs10534024, rs1234612 polymorphisms and DNA methylationwere analyzed by pyrosequencing in serum and bone samples of 33 patients undergoing hip replacement. In addition,SOST expression was studied in bone samples. Also, different alleles of the SOST promoter were cloned into double reportervectors with the luciferase gene under this promoter and the alkaline phosphatase gene under a constitutive promoter. RESULTS: Methylation analysis of the SOST promoter region in serum free DNA and bone DNA revealed no statisticallysignificant differences across the alleles of the analyzed polymorphisms (p > 0.05). However, transfections with reportervectors showed high transcriptional activity, regardless of the vector used. CONCLUSION: We have not found a clear association between the different alleles and the DNA methylation of the SOSTpromoter region. Further studies are needed to determine the polymorphisms' functional effects on the methylationand expression of the SOST gene and the consequences on bone mass

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.

Método empleado en las muertes por suicidio en España: envenenamiento y agentes violentos no tóxicos / Suicide methods in Spain: poisoning and non-toxic violent agents

Introducción: El suicidio es en todo el mundo la segunda causa de muerte en adultos jóvenes, y en España es la principal causa de muerte violenta. Los métodos para llevarlo a cabo varían según factores demográficos y geográficos. En el presente estudio se analiza de manera global el método de suicidio empleado en España, y se detalla el análisis en la región de Cantabria. Material y métodos: Estudio retrospectivo en el que se clasifican los suicidios en dos grupos según el método, por envenenamiento y por agentes violentos no tóxicos. Se evaluó la tendencia en los métodos elegidos para provocar la muerte, así como las diferencias según la edad y el sexo. Resultados: El patrón geográfico en los suicidios según el método es heterogéneo. Los suicidios por agentes violentos no tóxicos fueron los más frecuentes, representando el 90,2% del total, si bien cabe destacar que este grupo ha sufrido un descenso en los últimos años (p = 0,002). Los agentes tóxicos estuvieron presentes en el 9,8% de los suicidios, siendo más usados por las mujeres. En Cantabria, el ahorcamiento fue el principal método elegido (50,2% del total). Conclusiones: Los tóxicos son agentes poco presentes en las muertes autoinfligidas, lo que podría atribuirse a su menor letalidad (respecto a otros métodos activos, como la precipitación o el ahorcamiento) y a la efectividad de las medidas sanitarias ante un envenenamiento. El Boletín Estadístico de Defunción Judicial no es del todo fiable como fuente de datos para la realización de estudios epidemiológicos, lo que puede deberse a que es rellenado por personal no sanitario que no tiene acceso a la historia del paciente (AU)

Introduction: Suicide is the second leading cause of death in young adults worldwide and the leading cause of violent death in Spain. Methods for committing suicide vary due to demographic and geographic factors. The present study analyzes the methods of suicide used over 13 years throughout Spain, and in particular in the region of Cantabria. Material and methods: A retrospective study was carried out to study the methods of suicide chosen in Spain. Temporal trends were analyzed throughout the period, as well as differences according to age and sex. Results: Toxic agents were present in 9.8% of recorded suicides, being more commonly used by the women. Suicide by non-toxic violent agents have declined in recent years (p = 0.002). The geographical pattern in suicides according to the chosen method is heterogeneous. In Cantabria, suicide by hanging was the most commonly chosen method (50.2% of the total). Conclusions: Toxic agents are relatively infrequent in self-inflicted deaths, which could be attributed to their lower lethality (compared to other active methods such as jumping from height or hanging) and to the effectiveness of medical measures against poisoning. The Boletín Estadístico de Defunción Judicial may not be a completely reliable source for conducting epidemiological studies, due to the cause of death being recorded by non-medical personnel without access to the full medical history of the patients (AU)

Analysis of post-transplant chimerism by using a single amplification reaction of 38 Indel polymorphic loci.

In order to detect chimerism after allogeneic hematopoietic SCT (HSCT), several methods have been developed. In this study we describe the use of a set of insertion/deletion (Indel) polymorphic loci to determine the level of donor cell engraftment. We analyzed 50 DNA samples from patients who had undergone HSCT, and also several artificial chimeric samples created by mixing different DNA specimens from non-transplanted donors in various proportions. A specific set of 38 autosomic Indel polymorphisms were analyzed. For comparison purposes, a set of 15 short tandem repeats (STRs) were analyzed using the Identifiler Plus Amplification Kit. Our results suggest that Indel-based and STR-based procedures behave similarly in most cases. However, Indel analysis may provide additional information in some cases with a small minor chimeric component or when the presence of stutter bands complicates chimerism estimation.