ABSTRACT
Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended GWAS meta-analysis of a well-characterized cohort of 3,260 COVID-19 patients with respiratory failure and 12,483 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a highly pleiotropic [~]0.9-Mb inversion polymorphism and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.
ABSTRACT
AIMS: The prognostic impact of heart rate (HR) in acute heart failure (AHF) patients is not well known especially in atrial fibrillation (AF) patients. The aim of the study was to evaluate the impact of admission HR, discharge HR, HR difference (admission-discharge) in AHF patients with sinus rhythm (SR) or AF on long- term outcomes. METHODS: We included 1398 patients consecutively admitted with AHF between October 2013 and December 2014 from a national multicentre, prospective registry. Logistic regression models were used to estimate the association between admission HR, discharge HR and HR difference and one- year all-cause mortality and HF readmission. RESULTS: The mean age of the study population was 72⯱â¯12â¯years. Of these, 594 (42.4%) were female, 655 (77.8%) were hypertensive and 655 (46.8%) had diabetes. Among all included patients, 745 (53.2%) had sinus rhythm and 653 (46.7%) had atrial fibrillation. Only discharge HR was associated with one year all-cause mortality (Relative risk (RR)â¯=â¯1.182, confidence interval (CI) 95% 1.024-1.366, pâ¯=â¯0.022) in SR. In AF patients discharge HR was associated with one year all cause mortality (RRâ¯=â¯1.276, CI 95% 1.115-1.459, pâ¯≤â¯0.001). We did not observe a prognostic effect of admission HR or HRD on long-term outcomes in both groups. This relationship is not dependent on left ventricular ejection fraction. CONCLUSIONS: In AHF patients lower discharge HR, neither the admission nor the difference, is associated with better long-term outcomes especially in AF patients.
ABSTRACT
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Subject(s)
Humans , Female , Candidiasis, Vulvovaginal/epidemiology , Candida glabrata/isolation & purification , Candida albicans/isolation & purification , Recurrence , Antifungal Agents/therapeutic useSubject(s)
Candida glabrata/isolation & purification , Candidiasis, Vulvovaginal/microbiology , Candida albicans/isolation & purification , Candidiasis, Vulvovaginal/economics , Candidiasis, Vulvovaginal/epidemiology , Female , Hospitals, University/statistics & numerical data , Humans , Recurrence , Retrospective Studies , Risk , Spain/epidemiology , Species SpecificityABSTRACT
This article summarizes recent evidence on the cortical bone trajectory (CBT) obtained from published anatomical, biomechanical, and clinical studies. CBT was proposed by Santoni in 2009 as a new trajectory that can improve the fixation of pedicle screws in response to screw loosening in osteoporotic patients. Recently, research interest has been growing with increasing numbers of published series and frequent reports of new applications. We performed an online database search using the terms “cortical bone trajectory,”“pedicle screw,”“CBT spine,”“CBT fixation,”“MISS CBT,” and “traditional trajectory.” The search included the PubMed, Ovid MEDLINE, Cochrane, and Google Scholar databases, resulting in an analysis of 42 articles in total. These covered three aspects of CBT research: anatomical studies, biomechanical parameters, and clinical cases or series. Compared to the traditional trajectory, CBT improves pullout strength, provides greater stiffness in cephalocaudal and mediolateral loading, and shows superior resistance to flexion/extension; however, it is inferior in lateral bending and axial rotation. CBT seems to provide better immediate implant stability. In clinical studies, CBT has shown better perioperative results for blood loss, length of stay in hospital, and surgery time; similar or better clinical postoperative scores; and similar comorbidity, without any major fixation system complications due to instrumentation failure or screw misplacement. In addition, advantages such as less lateral exposure allow it to be used as a minimally invasive technique. However, most of the clinical studies were retrospective case series or case-control studies; prospective evidence on this technique is scarce, making a definitive comparison with the traditional trajectory difficult. Nevertheless, we can conclude that CBT is a safe technique that offers good clinical results with similar biomechanical and perioperative parameters to those of the traditional trajectory. In addition, new applications can improve its results and make it useful for additional pathologies.
Subject(s)
Humans , Case-Control Studies , Comorbidity , Length of Stay , Pathology , Pedicle Screws , Prospective Studies , Retrospective StudiesABSTRACT
The present study provides information on the emotional experience of people with intellectual disability. To evaluate this emotional experience, we have used the International Affective Pictures System (IAPS). The most important result from this study is that the emotional reaction of people with intellectual disability to affective stimuli is very similar to that of the control groups. The way in which people with intellectual disability express basic affect to emotional stimuli in terms of happy-sad and calm-nervous is very similar to that of the general population. However, there are also some differences in how basic affect is expressed in the affective dimensions that might be relevant to our understanding of the emotional life of people with intellectual disability.
Subject(s)
Emotions , Facial Expression , Intellectual Disability/psychology , Pattern Recognition, Visual , Adolescent , Adult , Arousal , Child , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/rehabilitation , Male , Middle Aged , Rehabilitation, Vocational , Young AdultABSTRACT
The purpose of this study was to determine the best statistical model of cognitive styles, based on the MFFT-20, CEFT and Stroop tests to predict attention deficit hyperactivity disorder (ADHD), analyzing the validity of the model for the diagnosis of the disease. We studied 100 ADHD cases (DSM-IV criteria) and 100 controls, age ranging between 7 and 11 years. Controls were randomly recruited and matched in age, gender and sociodemographic area with ADHD cases. On average, ADHD cases showed more impulsiveness (d: 1.28), less cognitive flexibility (d: 0.91) and more field dependence (d: 1.62) than controls. The logistic regression model that predicts ADHD best is made up of age, CEFT, MFFT-20 and Stroop tests and the formula derived from the model shows 85% sensitivity and 85% specificity for ADHD, regarding the DSM-IV criteria as the standard. The statistical model of cognitive styles presents valid indicators to diagnose ADHD, contributing to an increase in the objectivity of its analysis.
Subject(s)
Attention Deficit Disorder with Hyperactivity/psychology , Cognition , Models, Psychological , Models, Statistical , Child , Female , Humans , Male , Reproducibility of ResultsABSTRACT
AIMS: The aim of this study is to analyse the differences in the Stroop effect between cases with attention deficit hyper-activity disorder (ADHD) and controls. It also seeks to find the best model based on the third task of the colours and words test (Stroop-CW) for predicting ADHD and to analyse the validity of the Stroop-CW test for diagnosing the disorder. SUBJECTS AND METHODS: The sample studied consisted of 100 cases of ADHD -according to Diagnostic and statistical manual of mental disorders (DSM-IV) criteria- and 100 controls, between 7 and 11 years of age, who were evaluated using the Stroop test. The controls were recruited at random and paired by age, sex and sociodemographic area with the cases. RESULTS: The cases present a mean cognitive style that is significantly less flexible (d = -1.06) and they also display a lower capacity to inhibit or control automatic responses than the controls at all ages (7 years: d = 1.67; 8 years: d = 1.02; 9 years: d = 1.32; 10 years: d = 2.04; 11 years: d = 0.89). The model of logistic regression analysis that best predicts ADHD is made up of age and Stroop-CW. The formulation derived from the model offers a sensitivity of 81% and a specificity of 72%, taking the criteria of the DSM-IV for ADHD as the reference test. CONCLUSIONS: The Stroop-CW test presents usefulness and complementary criteria validity for the diagnosis of ADHD.
Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Stroop Test , Case-Control Studies , Child , Female , Humans , Male , Retrospective StudiesABSTRACT
Objetivos. Analizar las diferencias entre casos de trastorno por déficit de atención/hiperactividad (TDAH) y controles en el efecto Stroop, y buscar el mejor modelo basado en la tercera prueba del test de colores y palabras (Stroop-PC) que permita predecir el TDAH y analizar la validez del Stroop-PC para el diagnóstico del trastorno. Sujetos y métodos. Se estudia una muestra de 100 casos de TDAH criterios del Manual diagnóstico y estadístico de los trastornos mentales, 4 ed. (DSM-IV) y 100 controles, entre 7 y 11 años, evaluados mediante el test de Stroop. Los controles fueron reclutados de forma aleatoria y emparejados según la edad, el sexo y la zona sociodemográfica con los casos. Resultados. Los casos presentan un estilo cognitivo medio significativamente menos flexible (d = 1,06) y reflejan menor capacidad para inhibir o controlar respuestas automáticas que los controles en todas las edades (7 años: d = 1,67; 8 años: d = 1,02; 9 años: d = 1,32; 10 años: d = 2,04; 11 años: d = 0,89). El modelo de regresión logística que mejor predice el TDAH está formado por edad y Stroop-PC. La formulación derivada del modelo presenta una sensibilidad del 81% y una especificidad del 72%, tomando como prueba de referencia los criterios del DSM-IV para el TDAH. Conclusiones. El Stroop-PC presenta utilidad y validez de criterio complementaria para el diagnóstico de TDAH (AU)
Aims. The aim of this study is to analyse the differences in the Stroop effect between cases with attention deficit hyperactivity disorder (ADHD) and controls. It also seeks to find the best model based on the third task of the colours and words test (Stroop-CW) for predicting ADHD and to analyse the validity of the Stroop-CW test for diagnosing the disorder. Subjects and methods. The sample studied consisted of 100 cases of ADHD according to Diagnostic and statistical manual of mental disorders (DSM-IV) criteria and 100 controls, between 7 and 11 years of age, who were evaluated using the Stroop test. The controls were recruited at random and paired by age, sex and sociodemographic area with the cases. Results. The cases present a mean cognitive style that is significantly less flexible (d = 1.06) and they also display a lower capacity to inhibit or control automatic responses than the controls at all ages (7 years: d = 1.67; 8 years: d = 1.02; 9 years: d = 1.32; 10 years: d = 2.04; 11 years: d = 0.89). The model of logistic regression analysis that best predicts ADHD is made up of age and Stroop-CW. The formulation derived from the model offers a sensitivity of 81% and a specificity of 72%, taking the criteria of the DSM-IV for ADHD as the reference test. Conclusions. The Stroop-CW test presents usefulness and complementary criteria validity for the diagnosis of ADHD(AU)
Subject(s)
Humans , Male , Female , Child , Attention Deficit Disorder with Hyperactivity/diagnosis , Psychometrics/instrumentation , Sensitivity and Specificity , Case-Control Studies , Logistic Models , Color Perception Tests , Word Association TestsABSTRACT
El estudio analiza diferencias entre casos de Trastorno por Déficit de Atención con Hiperactividad (TDAH) y controles en su modo global / analítico de procesar la información, buscando el mejor modelo basado en el Childrens Embedded Figures Test (CEFT) que permita predecir TDAH y analizando la validez de la prueba para el diagnóstico del trastorno. Se estudia una muestra de 100 casos de TDAH (criterios DSM-IV) y 100 controles, entre 7 y 11 años, evaluados mediante el CEFT. Los controles fueron reclutados de forma aleatoria y emparejados según edad, sexo y zona sociodemográfica con los casos. Los casos presentan un estilo cognitivo medio significativamente mas dependiente de campo (d = 1.36), reflejando un modo de procesamiento mas global que los controles en todas las edades. El modelo de regresión logística que mejor predice TDAH está formado por edad, sexo y CEFT. La formulación derivada del modelo presenta sensibilidad del 80% y especifidad del 84%, tomando como prueba de referencia criterios DSM-IV para TDAH. Concluimos valorando que el CEFTpresenta utilidad y adecuada validez de criterio para TDAH (AU)
Objectives: To assess the differences among patients with Attention Deficit Hyperactivity Disorder (ADHD) and control subjects, in relation to their global/analytical way of processing information and to find the best model based in Children´s Embedded Figures Test (CEFT) which permits prediction and diagnosis of ADHD, and analyzing the validity of the test for the diagnostic of the disease. Method: We study 100 ADHD cases (DSM-IV criteria) and 100 controls, ranging between 7 and 11 years of age, analyzed with CEFT. Controls were randomly recruited and matched by age, gender and sociodemography area with cases. Results: Cases show an average cognitive style significantly more field dependent (d = 1.36), reflecting a more global way of processing information than controls at all ages. The logistic regression model that best predicts ADHD is constituted by age, gender and CEFT direct marks and the derived formula from the model shows an 80% of sensitivity and a 84% specificity for ADHD, taking as gold standard the DSM-IV criteria. Conclusion: CEFT test shows utility and of appropriate validity for diagnosing ADHD (AU)
Subject(s)
Humans , Male , Female , Child , Attention Deficit Disorder with Hyperactivity/diagnosis , Psychological Tests , Psychometrics/instrumentation , Sensitivity and Specificity , Reproducibility of ResultsABSTRACT
El estudio analiza el perfil de comorbilidad del Trastorno por Déficit de Atención con Hiperactividad (TDAH) y trastornos del comportamiento (TC), explorando el modelo que predice esta asociación psicopatológica. Metodología de investigación: Se analiza una muestra de 90 casos con TDAH (6-16 años). Mediante investigación diferencial se compara la agrupación TDAH+TC con la ausencia de esta comorbilidad. El caso de TDAH se valoró según criterios DSM-IV y la comorbilidad mediante el CSI. Se consideraron las variables perfil intelectual (WISC-R), resultados académicos, dimensión relacional, antecedentes psiquiátricos y núcleo de convivencia. Se utilizaron estadísticos descriptivos y exploratorios, implementando un procedimiento de regresión logística. Resultados: El perfil diferencial implica que los casos TDAH+TC presentan, significativamente, mayor deterioro en dimensión relacional, resultados académicos y proporción de padres separados. El modelo que predice TDAH+TC está formado por el factor relacional, mientras que en TDAH + Trastorno Disocial incluye factor relacional y padres separados (p<0.05) (AU)
This paper examines the co-morbidity profile of the Attention Deficit Hyperactivity Disorder (ADHD) and Behavior Disorder (BD), exploring the pattern that predicts this psychopathological association. A sample of 90 ADHD subjects aged 6 to 16 is analysed. Using a differential methodology, ADHD+BD is compared with the absence of co-morbidity. ADHD was assessed according to DSM-IV standards and the co-morbidity by means of CSI. Intellectual profile (as measured by WISC-R), academic performance, the relational dimension, psychiatric antecedents and nucleus of coexistence were taken into account. Descriptive and exploratory statistics were used and a logistic regression was implemented. The differential profile implies that ADHD+BD subjects present a significantly higher deterioration in the relational dimension, academic performance and percentage of separated parents. The pattern predicting ADHD+BD includes the relational dimension, whereas ADHD + Conduct Disorder includes the relational dimension and separated parents (p <.05) (AU)
