Country-report pattern corrections of new cases allow accurate 2-week predictions of COVID-19 evolution with the Gompertz model.

Accurate short-term predictions of COVID-19 cases with empirical models allow Health Officials to prepare for hospital contingencies in a two-three week window given the delay between case reporting and the admission of patients in a hospital. We investigate the ability of Gompertz-type empiric models to provide accurate prediction up to two and three weeks to give a large window of preparation in case of a surge in virus transmission. We investigate the stability of the prediction and its accuracy using bi-weekly predictions during the last trimester of 2020 and 2021. Using data from 2020, we show that understanding and correcting for the daily reporting structure of cases in the different countries is key to accomplish accurate predictions. Furthermore, we found that filtering out predictions that are highly unstable to changes in the parameters of the model, which are roughly 20%, reduces strongly the number of predictions that are way-off. The method is then tested for robustness with data from 2021. We found that, for this data, only 1-2% of the one-week predictions were off by more than 50%. This increased to 3% for two-week predictions, and only for three-week predictions it reached 10%.

Evaluating the QileX-RhE skin corrosion test for chemical subcategorization in accordance with OECD TG 431.

Skin corrosion testing is integral to evaluating the potential harm posed by chemicals, impacting regulatory decisions on safety, transportation, and labeling. Traditional animal testing methods are giving way to in vitro alternatives, such as reconstructed human epidermis (RhE) models, aligning with evolving ethical standards. This study evaluates the QileX-RhE test system's performance for chemical subcategorization within the OECD TG 431 framework. Results demonstrate its ability to differentiate subcategories, accurately predicting 83% of UN GHS Category 1A and 73% of UN GHS Category 1B/1C chemicals with 100% sensitivity in corrosive prediction. Additionally, this study provides a comprehensive assessment of the test method's performance by employing nuanced parameters such as positive predictive value (PPV), negative predictive value (NPV), post-test odds and likelihood rations, offering valuable insights into the applicability and effectiveness of the QileX-RhE test method.

Electroporación irreversible: ampliando las fronteras de la ablación / Irreversible electroporation: Beyond the limits of tumor ablation

La electroporación irreversible o IRE (irreversible electroporation) es una técnica de ablación tumoral no térmica basada en la aplicación de pulsos eléctricos de alto voltaje entre pares de agujas insertadas alrededor de un tumor. La corriente generada favorece la creación de nanoporos en la membrana plasmática, desencadenando la apoptosis. Por ello, la IRE puede utilizarse de manera segura en localizaciones cercanas a estructuras vasculares delicadas, contraindicadas para el resto de técnicas termoablativas. Actualmente la IRE se emplea con éxito para la ablación de tumores en páncreas, riñón e hígado y, de manera muy extendida, como opción terapéutica focal para el cáncer de próstata. La necesidad de un manejo anestésico específico y la colocación precisa y en paralelo de múltiples agujas implican un alto nivel de complejidad, siendo necesaria una gran experiencia del equipo intervencionista. No obstante, se trata de una técnica muy prometedora con una gran capacidad inmunológica sistémica que puede provocar un efecto a distancia del tumor tratado (efecto abscopal).(AU)

Irreversible electroporation (IRE) is a non-thermal tumor ablation technique. High-voltage electrical pulses are applied between pairs of electrodes inserted around and/or inside a tumor. The generated electric current induces the creation of nanopores in the cell membrane, triggering apoptosis. As a result, IRE can be safely used in areas near delicate vascular structures where other thermal ablation methods are contraindicated. Currently, IRE has demonstrated to be a successful ablation technique for pancreatic, renal, and liver tumors and is widely used as a focal therapeutic option for prostate cancer. The need for specific anesthetic management and accurate parallel placement of multiple electrodes entails a high level of complexity and great expertise from the interventional team is required. Nevertheless, IRE is a very promising technique with a remarkable systemic immunological capability and may impact on distant metastases (abscopal effect).(AU)

Impacto de la malnutrición en la calidad de vida de los pacientes ancianos con insuficiencia cardíaca avanzada / Impact of malnutrition on the quality of life in older patients with advanced heart failure: a cohort study

Objetivos El objetivo de este estudio fue evaluar la prevalencia de malnutrición, las características clínicas asociadas con la misma y el impacto del estado nutricional en la mortalidad, la calidad de vida y las habilidades relacionadas con el autocuidado y las actividades de la vida diaria en pacientes ancianos con insuficiencia cardíaca avanzada. Métodos Entre junio de 2017 y diciembre de 2019 se llevó a cabo un estudio prospectivo multicéntrico de cohortes que incluyó a 260 pacientes ancianos con insuficiencia cardíaca avanzada que vivían en la comunidad. El estudio se llevó a cabo en 22 centros de atención primaria, tres hospitales universitarios, un hospital de agudos y una unidad de rehabilitación geriátrica de la ciudad de Barcelona (España). El estado nutricional se evaluó al inicio del estudio mediante el cuestionario Mini Nutritional Assessment (MNA) Las medidas de resultado informadas por los pacientes incluyeron calidad de vida (EQ-5D-3L), conducta de autocuidado (Escala europea de conducta de autocuidado en insuficiencia cardíaca) e impacto en las actividades de la vida diaria (índice de Barthel). Resultados Utilizando el MNA-SF, se identificó que 126 (48,5%) pacientes estaban en riesgo de malnutrición y 33 (12,7%) pacientes tenían malnutrición confirmada. En comparación con aquellos con un estado nutricional normal, los pacientes con malnutrición confirmada eran significativamente mayores, con un IMC más bajo y con niveles reducidos de hemoglobina. Durante el seguimiento (mediana de 14,9 meses, intervalo intercuartil: 4,9-26,9), 133 (51,2%) de los participantes incluidos murieron. La mortalidad fue significativamente mayor entre los pacientes con malnutrición (p<0,001). Un mayor índice de Barthel y mejores puntuaciones de calidad de vida se relacionaron inversamente con el riesgo de desnutrición (odds ratio [OR] 0,97 [intervalo de confianza del 95%: 0,96-0,98] y OR 0,98 [intervalo de confianza del 95%: 0,96-0,99]), respectivamente... (AU)

ObjectivesThe aim of this study was to assess the prevalence of malnutrition, the clinical characteristics associated with malnutrition and the impact of nutritional status on mortality, quality of life, self-care abilities, and activities of daily living in the older patients with advanced heart failure.MethodsA prospective multicentre cohort study including 260 community-dwelling elderly patients with advanced heart failure was conducted between June 2017 and December 2019. The study was carried out in 22 primary healthcare centres, three university hospitals, one acute-care hospital, and one geriatric rehabilitation unit in the city of Barcelona (Spain). Nutritional status was assessed at baseline using the Mini Nutritional Assessment (MNA) questionnaire. Patient-reported outcome measures included quality of life (EQ-5D-3L), self-care behaviour (European Heart Failure Self-care Behaviour Scale) and impact on activities of daily living (Barthel index).ResultsUsing the MNA-SF, 126 (48.5%) patients were identified as being at risk of malnutrition and 33 (12.7%) patients as having confirmed malnutrition. Compared to heart failure patients with normal nutritional status, patients with confirmed malnutrition were significantly older, with a lower BMI, and with reduced haemoglobin levels. During follow-up (median 14.9 months, interquartile range: 4.9-26.9), 133 (51.2%) of the included participants died, and mortality was significantly higher among patients identified as having malnutrition (P<.001). Better Barthel index and quality of life scores were inversely related to the risk of malnutrition (Odds Ratio [OR] 0.97 [95% confidence interval: 0.96 to 0.98] and OR 0.98 [95% confidence interval: 0.96 to 0.99]), respectively. Higher scores in the European Heart Failure Self-care Behaviour Scale, which implies worse self care, were related to higher malnutrition risk (OR 1.05 [95% confidence interval: 1.02 to 1.09])... (AU)

Irreversible electroporation: Beyond the limits of tumor ablation.

Irreversible Electroporation (IRE) is a non-thermal tumor ablation technique. High-voltage electrical pulses are applied between pairs of electrodes inserted around and/or inside a tumor. The generated electric current induces the creation of nanopores in the cell membrane, triggering apoptosis. As a result, IRE can be safely used in areas near delicate vascular structures where other thermal ablation methods are contraindicated. Currently, IRE has demonstrated to be a successful ablation technique for pancreatic, renal, and liver tumors and is widely used as a focal therapeutic option for prostate cancer. The need for specific anesthetic management and accurate parallel placement of multiple electrodes entails a high level of complexity and great expertise from the interventional team is required. Nevertheless, IRE is a very promising technique with a remarkable systemic immunological capability and may impact on distant metastases (abscopal effect).

Characterization of PAHs bound to ambient ultrafine particles around runways at an international airport.

The impact of airport activities on air quality, is not sufficiently documented. In order to better understand the magnitude and properly assess the sources of emissions in the sector, it is necessary to establish databases with real data on those pollutants that could have the greatest impact on both health and the environment. Particulate matter (PM), especially ultrafine particles, are a research priority, not only because of its physical properties, but also because of its ability to bind highly toxic compounds such as polycyclic aromatic hydrocarbons (PAHs). Samples of PM were collected in the ambient air around the runways at Barajas International Airport (Madrid, Spain) during October, November and December 2021. Samples were gathered using three different sampling systems and analysed to determine the concentration of PAHs bound to PM. A high-volume air sampler, a Berner low-pressure impactor, and an automated off-line sampler developed in-house were used. The agreement between the samplers was statistically verified from the PM and PAH results. The highest concentration of PM measured was 31 µg m-3, while the concentration of total PAH was 3 ng m-3, both comparable to those recorded in a semi-urban area of Madrid. The PAHs showed a similar profile to the particle size distribution, with a maximum in the 0.27-0.54 µm size range, being preferentially found in the submicron size fractions, with more than 84% and around 15-20% associated to UFPs. It was found that the ratio [PAHs(m)/PM(m)] was around 10-4 in the warmer period (October), whereas it more than doubled in the colder months (November-December). It is significant the shift in the relative distribution of compounds within these two periods, with a notable increase in the 5 and 6 ring proportions in the colder period. This increase was probably due to the additional contribution of other external sources, possibly thermal and related to combustion processes, as supported by the PAH diagnostic ratios.

Impacto de la malnutrición en la calidad de vida de los pacientes ancianos con insuficiencia cardíaca avanzada / Impact of malnutrition on the quality of life in older patients with advanced heart failure: a cohort study

Objetivos El objetivo de este estudio fue evaluar la prevalencia de malnutrición, las características clínicas asociadas con la misma y el impacto del estado nutricional en la mortalidad, la calidad de vida y las habilidades relacionadas con el autocuidado y las actividades de la vida diaria en pacientes ancianos con insuficiencia cardíaca avanzada. Métodos Entre junio de 2017 y diciembre de 2019 se llevó a cabo un estudio prospectivo multicéntrico de cohortes que incluyó a 260 pacientes ancianos con insuficiencia cardíaca avanzada que vivían en la comunidad. El estudio se llevó a cabo en 22 centros de atención primaria, tres hospitales universitarios, un hospital de agudos y una unidad de rehabilitación geriátrica de la ciudad de Barcelona (España). El estado nutricional se evaluó al inicio del estudio mediante el cuestionario Mini Nutritional Assessment (MNA) Las medidas de resultado informadas por los pacientes incluyeron calidad de vida (EQ-5D-3L), conducta de autocuidado (Escala europea de conducta de autocuidado en insuficiencia cardíaca) e impacto en las actividades de la vida diaria (índice de Barthel). Resultados Utilizando el MNA-SF, se identificó que 126 (48,5%) pacientes estaban en riesgo de malnutrición y 33 (12,7%) pacientes tenían malnutrición confirmada. En comparación con aquellos con un estado nutricional normal, los pacientes con malnutrición confirmada eran significativamente mayores, con un IMC más bajo y con niveles reducidos de hemoglobina. Durante el seguimiento (mediana de 14,9 meses, intervalo intercuartil: 4,9-26,9), 133 (51,2%) de los participantes incluidos murieron. La mortalidad fue significativamente mayor entre los pacientes con malnutrición (p<0,001). Un mayor índice de Barthel y mejores puntuaciones de calidad de vida se relacionaron inversamente con el riesgo de desnutrición (odds ratio [OR] 0,97 [intervalo de confianza del 95%: 0,96-0,98] y OR 0,98 [intervalo de confianza del 95%: 0,96-0,99]), respectivamente... (AU)

ObjectivesThe aim of this study was to assess the prevalence of malnutrition, the clinical characteristics associated with malnutrition and the impact of nutritional status on mortality, quality of life, self-care abilities, and activities of daily living in the older patients with advanced heart failure.MethodsA prospective multicentre cohort study including 260 community-dwelling elderly patients with advanced heart failure was conducted between June 2017 and December 2019. The study was carried out in 22 primary healthcare centres, three university hospitals, one acute-care hospital, and one geriatric rehabilitation unit in the city of Barcelona (Spain). Nutritional status was assessed at baseline using the Mini Nutritional Assessment (MNA) questionnaire. Patient-reported outcome measures included quality of life (EQ-5D-3L), self-care behaviour (European Heart Failure Self-care Behaviour Scale) and impact on activities of daily living (Barthel index).ResultsUsing the MNA-SF, 126 (48.5%) patients were identified as being at risk of malnutrition and 33 (12.7%) patients as having confirmed malnutrition. Compared to heart failure patients with normal nutritional status, patients with confirmed malnutrition were significantly older, with a lower BMI, and with reduced haemoglobin levels. During follow-up (median 14.9 months, interquartile range: 4.9-26.9), 133 (51.2%) of the included participants died, and mortality was significantly higher among patients identified as having malnutrition (P<.001). Better Barthel index and quality of life scores were inversely related to the risk of malnutrition (Odds Ratio [OR] 0.97 [95% confidence interval: 0.96 to 0.98] and OR 0.98 [95% confidence interval: 0.96 to 0.99]), respectively. Higher scores in the European Heart Failure Self-care Behaviour Scale, which implies worse self care, were related to higher malnutrition risk (OR 1.05 [95% confidence interval: 1.02 to 1.09])... (AU)

Predictors of first-year postoperative complications after fixation of low-energy ankle fractures: A single-center, retrospective cohort study of 663 consecutive fractures. / [Artículo traducido] Predictores de las complicaciones postoperatorias en el primer año tras la fijación de fracturas de tobillo de baja energía. Estudio de cohortes retrospectivo sobre 663 fracturas intervenidas consecutivamente en un único centro.

INTRODUCTION: Rotational ankle fractures are common, have diverse personalities and affect both robust and fragile patients. Postoperative complications are frequent, creating a sizeable economic burden. The primary purpose of this study was to expand current knowledge on predictors of postoperative complications after low-energy ankle fracture fixation. MATERIALS AND METHODS: A retrospective single-center cohort study was completed of patients undergoing internal fixation OF low-energy ankle fractures. The primary outcome was first-year postoperative complications, classified as major (surgical) or minor (non-surgical). Data on patients, their injuries, and treatments were collected. To identify potential predictors of outcomes, logistic regression methods were used, with a backward-stepwise method used for model fitting. RESULTS: In total, 663 patients of median age 59 years were analysed. We found a high rate of complications (28.4%), with wound-healing issues and infections predominant. Overall, 14.8% had minor complications, while 13.6% required an unplanned reoperation. On multivariable analysis, the most consistent predictors of complications were older age (OR: 1.02 per year), longer operating time (3.32 per hour), and smoking (2.91). CONCLUSIONS: Older patients and smokers who sustain fractures requiring more complex surgery are at higher risk of postoperative complications.

Impact of malnutrition on the quality of life in older patients with advanced heart failure: a cohort study.

OBJECTIVES: The aim of this study was to assess the prevalence of malnutrition, the clinical characteristics associated with malnutrition and the impact of nutritional status on mortality, quality of life, self-care abilities, and activities of daily living in the older patients with advanced heart failure. METHODS: A prospective multicentre cohort study including 260 community-dwelling elderly patients with advanced HF was conducted between June 2017 and December 2019. The study was carried out in 22 primary healthcare centres, three university hospitals, one acute-care hospital, and one geriatric rehabilitation unit in the city of Barcelona (Spain). Nutritional status was assessed at baseline using the Mini Nutritional Assessment questionnaire. Patient-reported outcome measures included quality of life (EQ-5D-3L), self-care behaviour (European Heart Failure Self-care Behaviour Scale) and impact on activities of daily living (Barthel Index). RESULTS: Using the MNA-SF, 126 (48.5%) patients were identified as being at risk of malnutrition and 33 (12.7%) patients as having confirmed malnutrition. Compared to HF patients with normal nutritional status, patients with confirmed malnutrition were significantly older, with a lower BMI, and with reduced haemoglobin levels. During follow-up (median 14.9 months, Interquartile Range; 4.9-26.9), 133 (51.2%) of the included participants died, and mortality was significantly higher among patients identified as having malnutrition (p < 0.001). Better Barthel index and quality of life scores were inversely related to the risk of malnutrition, [Odds Ratio (OR) 0.97 (95% Confidence interval 0.96; 0.98) and OR 0.98 (95% Confidence interval, 0.96; 0.99)], respectively. Higher scores in the European Heart Failure Self-care Behaviour Scale, which implies worse self care, were related to higher malnutrition risk, OR 1.05 (95% Confidence interval, 1.02; 1.09. Adjusted multivariate logistic model found that malnutrition was significantly associated with poor quality of life, and adverse impacts on daily activities and self-care. CONCLUSIONS: In community-dwelling older patients with advanced HF, malnutrition was associated with worse patient reported outcome measures related to poor quality of life, and adverse impacts on self-care and daily activities. Nutritional status must be systematically addressed by primary care nurses and family doctors to improve survival rates in these patients. It would be helpful the incorporation of expert professionals in nutrition in the primary health care centres.

Is non-contrast MRI sufficient to detect meningioma residue after surgery?

BACKGROUND: Contrast-enhanced magnetic resonance imaging (MRI) is the imaging modality routinely used to follow up patients who have undergone surgical resection of brain meningiomas. There are growing concerns about the massive use of gadolinium-based contrast agents (GBCA). Our aim was to evaluate the performance of a new imaging protocol, performed without GBCA injection, in the detection of tumoral residue or local recurrence after surgery of parafalcine and convexity meningiomas. MATERIALS AND METHODS: Only adult patients with a documented resected parafalcine or convexity meningioma were included. We performed a dedicated MRI protocol that included non-contrast and post-contrast sequences. The presence or absence of residue on the unenhanced sequences was independently recorded by three observers: first blindly, then in comparison with a baseline enhanced MRI examination. RESULTS: A total of 51 patients were included. 37 of them featured a tumor residue on the reference enhanced sequence. Overall, an average of 32 of 37 (87%) residues were identified on the unenhanced sequences that were blindly reviewed; and more than 34 of 37 (93%) were identified with the help of the comparative baseline enhanced examination, with a high sensitivity. The missed cases were related to small residues. CONCLUSION: Unenhanced MRI sequences are highly sensitive and specific in identifying a tumor residue or a local recurrence in the post operative follow up of brain meningiomas. Sensitivity is even higher with the help of a comparative baseline enhanced MRI examination, whatever the strength of magnetic field.

Predictors of first-year postoperative complications after fixation of low-energy ankle fractures: A single-center, retrospective cohort study of 663 consecutive fractures.

INTRODUCTION: Rotational ankle fractures are common, have diverse personalities and affect both robust and fragile patients. Postoperative complications are frequent, creating a sizeable economic burden. The primary purpose of this study was to expand current knowledge on predictors of postoperative complications after low-energy ankle fracture fixation. MATERIALS AND METHODS: A retrospective single-center cohort study was completed of patients undergoing internal fixation OF low-energy ankle fractures. The primary outcome was first-year postoperative complications, classified as major (surgical) or minor (non-surgical). Data on patients, their injuries, and treatments were collected. To identify potential predictors of outcomes, logistic regression methods were used, with a backward-stepwise method used for model fitting. RESULTS: In total, 663 patients of median age 59 years were analyzed. We found a high rate of complications (28.4%), with wound-healing issues and infections predominant. Overall, 14.8% had minor complications, while 13.6% required an unplanned reoperation. On multivariable analysis, the most consistent predictors of complications were older age (OR=1.02 per year), longer operating time (3.32 per hour), and smoking (2.91). CONCLUSIONS: Older patients and smokers who sustain fractures requiring more complex surgery are at higher risk of postoperative complications.

Evaluación crítica de la literatura sobre la toma de decisiones de las metástasis vertebrales / Critical evaluation of the literature on decision-making in spinal metastases

La toma de decisiones en pacientes con metástasis vertebral es de gran complejidad. En ella intervienen distintos factores del paciente, de su enfermedad oncológica y de las opciones de tratamiento. Los esquemas y estrategias de tratamiento se han ido modificando con la propia evolución del conocimiento y tratamiento de la enfermedad oncológica diseminada. En este trabajo se analiza la bibliografía que se ha empleado para la toma de decisiones en las tres últimas décadas, así como la evolución a los esquemas que podríamos considerar contemporáneos.(AU)

Decision-making in patients with vertebral metastases is highly complex. Different factors of the patient, their cancer disease and treatment options are involved in it. Treatment schemes and strategies have been modified with the evolution of knowledge and treatment of disseminated oncological disease. This paper analyzes the bibliography that has been used for decision-making in the last three decades, as well as the evolution to the schemes that we could consider contemporary.(AU)

[Translated article] Critical evaluation of the literature on decision-making in spinal metastases / Evaluación crítica de la literatura sobre la toma de decisiones de las metástasis vertebrales

La toma de decisiones en pacientes con metástasis vertebral es de gran complejidad. En ella intervienen distintos factores del paciente, de su enfermedad oncológica y de las opciones de tratamiento. Los esquemas y estrategias de tratamiento se han ido modificando con la propia evolución del conocimiento y tratamiento de la enfermedad oncológica diseminada. En este trabajo se analiza la bibliografía que se ha empleado para la toma de decisiones en las tres últimas décadas, así como la evolución a los esquemas que podríamos considerar contemporáneos.(AU)

Decision-making in patients with vertebral metastases is highly complex. Different factors of the patient, their cancer disease and treatment options are involved in it. Treatment schemes and strategies have been modified with the evolution of knowledge and treatment of disseminated oncological disease. This paper analyzes the bibliography that has been used for decision-making in the last three decades, as well as the evolution to the schemes that we could consider contemporary.(AU)

An effective method for culturing functional human corneal endothelial cells using a xenogeneic free culture medium.

Endothelial dysfunction is a leading cause of corneal blindness in developed countries and the only available treatment is the endothelial transplantation. However, the limited availability of suitable donors remains a significant challenge, driving the exploration of alternative regenerative therapies. Advanced Therapy Medicinal Products show promise but must adhere to strict regulations that prohibit the use of animal-derived substances. This study investigates a novel culture methodology using Plasma Rich in Growth Factors (PRGF) as the only source of growth factors for primary cultures of human corneal endothelial cells (CECs). CECs were obtained from discarded corneas or endothelial rings and cultured in two different media: one supplemented with xenogeneic factors and other xenogeneic-free, using PRGF. Comprehensive characterization through immunofluorescence, morphological analyses, trans-endothelial electrical resistance measurements, RNA-seq, and qPCR was conducted on the two groups. Results demonstrate that CECs cultured in the xenogeneic-free medium exhibit comparable gene expression, morphology, and functionality to those cultured in the xenogeneic medium. Notably, PRGF-expanded CECs share 46.9% of the gene expression profile with native endothelium and express all studied endothelial markers. In conclusion, PRGF provides an effective source of xenogeneic-free growth factors for the culture of CECs from discarded corneal tissue. Further studies will be necessary to demonstrate the applicability of these cultures to cell therapies that make clinical translation possible.

eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD).

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. ASD has proven to have a strong genetic component. However, defining causal genes is still one of the main challenges in GWAS, since the vast majority (>90%) of detected signals lie within the non-coding genome. Expression quantitative trait locus (eQTL) colocalization analysis determines whether a specific variant is responsible for both a local eQTL and GWAS association and has helped leverage data and rendering gene discovery for a wide array of diseases. Here we further mine the largest ASD GWAS performed to date (18,381 cases and 27,969 controls) altogether with GWAS summary statistics from the main PGC studies (Schizophrenia, MD (Major Depression) and ADHD (Attention Deficit/Hyperactivity Disorder)), by using eQTpLot, a newly developed tool that illustrates the colocalization of GWAS and eQTL signals in a locus, and the enrichment of and correlation between the candidate gene eQTLs and trait-significant variants. This analysis points up 8 genes with a significant eQTL colocalization signal in ASD (CRHR1, KANSL1, MANBA, MAPT, MMP12, NKX2-2, PTPRE and WNT3) and one gene (SRPK2) with a marginally significant colocalization signal (r = 0.69, p < 1 × 10-6), and specifically highlights the potentially causal role of MAPT (r = 0.76, p < 1 × 10-6), NKX2-2 (r = 0.71, p-value = 2.26-02) and PTPRE (r = 0.97, p-value = 2.63-04) when restricting the analysis to brain tissue.

[Translated article] Critical evaluation of the literature on decision-making in spinal metastases.

Decision-making in patients with vertebral metastases is highly complex. Different factors of the patient, their cancer disease and treatment options are involved in it. Treatment schemes and strategies have been modified with the evolution of knowledge and treatment of disseminated oncological disease. This paper analyzes the bibliography that has been used for decision-making in the last three decades, as well as the evolution to the schemes that we could consider contemporary.

Prevalencia del síndrome de apnea obstructiva del sueño infantil en una unidad de sueño de referencia / Prevalence of childhood obstructive sleep apnoea syndrome in a referral sleep unit

Introducción: El síndrome de apnea obstructiva del sueño (SAOS) afecta a entre el 1 y el 6% de la población infantil. En su diagnóstico, se incluyen: a) ronquidos y/o apneas; y b) un índice de apneas e hipopneas >3/hora obtenido en la polisomnografía (PSG). El objetivo principal de este trabajo es determinar la prevalencia del SAOS en nuestra población de estudio. Pacientes y métodos: Estudio descriptivo con una muestra de 151 niños con edades comprendidas entre 1 y 12 años, remitidos a la unidad de sueño del Hospital General Universitario Gregorio Marañón para la realización de una PSG. Se analizaron las variables demográficas sexo y edad; las variables clínicas ronquidos, apneas e hipertrofia amigdalar; y la presencia de SAOS basada en el criterio diagnóstico polisomnográfico de un índice de apneas e hipopneas >3/hora. Resultados: La edad media de la muestra fue de 5,37 años (desviación estándar: 3,05) y el 64,9% eran varones. En el 90,1% de los casos, el motivo de consulta fue sospecha de SAOS. Los ronquidos, las apneas y la hipertrofia amigdalar se observaron en el 73,5, el 48,7 y el 60% de los casos, respectivamente. Se diagnosticó SAOS en 19 (12,6%) niños; en el 13,5% de los roncadores; en el 15,1% de los niños con apneas; y en el 15,6% de los niños con hipertrofia amigdalar. Conclusiones: En nuestro estudio, la prevalencia del SAOS en niños fue del 12,6%, superior a la descrita en la mayoría de los estudios epidemiológicos, pero similar a la observada en los que incluyen la PSG para el diagnóstico del SAOS.(AU)

Introduction: Obstructive sleep apnoea syndrome (OSAS) affects between 1% and 6% of children. Its diagnosis includes: a) snoring and/or apnoea; and b) an apnoea and hypopnoea index >3/hour obtained by polysomnography (PSG). The main aim of this work is to determine the prevalence of OSAS in our study population. Patients and methods: We conducted a descriptive study with a sample of 151 children aged between 1 and 12 years, who had been referred to the sleep unit of the Hospital General Universitario Gregorio Marañón for a PSG. We analysed the demographic variables sex and age; the clinical variables snoring, apnoeas and tonsillar hypertrophy; and the presence of OSAS based on the polysomnographic diagnostic criterion of an apnoea and hypopnoea index >3/hour. Results: The mean age of the sample was 5.37 years (standard deviation: 3.05) and 64.9% were males. In 90.1% of cases, the reason for the visit was suspected OSAS. Snoring, apnoeas and tonsillar hypertrophy were observed in 73.5, 48.7 and 60% of cases, respectively. OSAS was diagnosed en 19 children (12.6%); in 13.5% of snorers; in 15.1% of those with apnoeas; and in 15.6% of the children with tonsillar hypertrophy. Conclusions: In our study, the prevalence of OSAS in children was 12.6%, which is higher than that reported in most epidemiological studies that include PSG for the diagnosis of OSAS.(AU)

The non-coding genome in Autism Spectrum Disorders.

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. While ASD have been proven to have a strong genetic component, current research largely focuses on coding regions of the genome. However, non-coding DNA, which makes up for ∼99% of the human genome, has recently been recognized as an important contributor to the high heritability of ASD, and novel sequencing technologies have been a milestone in opening up new directions for the study of the gene regulatory networks embedded within the non-coding regions. Here, we summarize current progress on the contribution of non-coding alterations to the pathogenesis of ASD and provide an overview of existing methods allowing for the study of their functional relevance, discussing potential ways of unraveling ASD's "missing heritability".