Preanalytical issues related to routine and diagnostic glucose tests: Results from a survey in Spain

Introduction: Diabetes mellitus (DM) is one of the most prevalent diseases worldwide. The objective of this study was to find out under what preanalytical conditions routine and diagnostic glucose tests are performed across Spanish laboratories; and also what criteria are used for DM diagnosis. Materials and methods: An online survey was performed by the Commission on Quality Assurance in the Extra-Analytical Phase of the Spanish Society of Laboratory Medicine (SEQC-ML). Access to the questionnaire was available on the home page of the SEQC-ML website during the period April-July 2018. Data analysis was conducted with the IBM SPSS© Statistics (version 20.0) program. Results: A total of 96 valid surveys were obtained. Most laboratories were in public ownership, serving hospital and primary care patients, with high and medium workloads, and a predominance of mixed routine-urgent glucose testing. Serum tubes were the most used for routine glucose analysis (92%) and DM diagnosis (54%); followed by lithium-heparin plasma tubes (62%), intended primarily for urgent glucose testing; point-ofcare testing devices were used by 37%; and plasma tubes with a glycolysis inhibitor, mainly sodium fluoride, by 19%. Laboratories used the cut-off values and criteria recognized worldwide for DM diagnosis in adults and glucose-impaired tolerance, but diverged in terms of fasting plasma glucose and gestational DM criteria. Conclusion: Preanalytical processing of routine and DM diagnostic glucose testing in Spain does not allow a significant, non-quantified influence of glycolysis on the results to be ruled out. Possible adverse consequences include a delay in diagnosis and possible under-treatmen

Validación del "Cuestionario de ansiedad social para adultos" (CASO-A30) en universitarios españoles: similitudes y diferencias entre carreras universitarias y comunidades autónomas

Resumen: El objetivo de este trabajo es presentar las propiedades psicométricas del ?Cuestionario de ansiedad social para adultos? (CASO-A30) con universitarios y analizar las diferencias y similitudes en ansiedad social en esta muestra. Participaron 15504 estudiantes de 20 carreras universitarias de 17 comunidades autónomas españolas a los que se les aplicó el CASO-A30 y la ?Escala de ansiedad social de Liebowitz, versión de autoinforme? (LSAS-SR). Se obtuvieron cinco dimensiones a través de diversos análisis factoriales y de ecuaciones estructurales del CASO-A30: ?Hablar en público/Interacción con personas de autoridad?, ?Interacción con desconocidos?, ?Interacción con el sexo opuesto?, ?Expresión asertiva de molestia, desagrado o enfado? y ?Quedar en evidencia o en ridículo?. La consistencia interna fue de 0,91 y su validez concurrente (con la LSAS-SR) de 0,66. Se hallaron diferencias significativas entre hombres y mujeres, pero escasas diferencias entre las comunidades autónomas y las carreras. Estos resultados confirman la estructura pentafactorial y las buenas propiedades psicométricas del CASO-A30, que lo convierten en un instrumento adecuado para la evaluación de la ansiedad social en universitarios, tanto generalizada como específica, cuidando las diferencias de sexo.Abstract: This work presents the psychometric properties of the Social Anxiety Questionnaire for Adults (SAQ-A30) with university students and analyses the differences and similarities in social anxiety in the sample. The 15,504 participants, students of 20 degree subjects in 17 Spanish Autonomous Community regions, were applied the SAQ-A30 and the ?Liebowitz Social Anxiety Scale-Self Report? (LSAS-SR). A five-factor structure was obtained through several factor analyses as well as an exploratory structural equation modeling of the SAQ-A30: ?Speaking in public/Talking with people in authority?, ?Interactions with strangers?, ?Interactions with the opposite sex?, ?Assertive expression of annoyance, disgust or displeasure?, and ?Criticism and embarrassment?. Internal consistency was 0.91 and concurrent validity (paired with LSAS-SR) was 0.66. Significant differences were found between males and females, but there was scarce difference between regions and subjects studied. These results confirm the five-factor structure and the good psychometric characteristics of the SAQ-A30, which make it a suitable instrument for assessing both general and specific social anxiety in universities, taking into account sex differences.Este estudio ha sido financiado parcialmente por la Fundación para el Avance de la Psicología Clínica Conductual (FUNVECA), el Ministerio de Ciencia y Tecnología de España (BSO2003-07029/PSCE) y el Fondo Europeo de Desarrollo Regional (FEDER)

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Preanalytical issues related to routine and diagnostic glucose tests: Results from a survey in Spain

Introduction: Diabetes mellitus (DM) is one of the most prevalent diseases worldwide. The objective of this study was to find out under what preanalytical conditions routine and diagnostic glucose tests are performed across Spanish laboratories; and also what criteria are used for DM diagnosis. Materials and methods: An online survey was performed by the Commission on Quality Assurance in the Extra-Analytical Phase of the Spanish Society of Laboratory Medicine (SEQC-ML). Access to the questionnaire was available on the home page of the SEQC-ML website during the period April-July 2018. Data analysis was conducted with the IBM SPSS© Statistics (version 20.0) program. Results: A total of 96 valid surveys were obtained. Most laboratories were in public ownership, serving hospital and primary care patients, with high and medium workloads, and a predominance of mixed routine-urgent glucose testing. Serum tubes were the most used for routine glucose analysis (92%) and DM diagnosis (54%); followed by lithium-heparin plasma tubes (62%), intended primarily for urgent glucose testing; point-ofcare testing devices were used by 37%; and plasma tubes with a glycolysis inhibitor, mainly sodium fluoride, by 19%. Laboratories used the cut-off values and criteria recognized worldwide for DM diagnosis in adults and glucose-impaired tolerance, but diverged in terms of fasting plasma glucose and gestational DM criteria. Conclusion: Preanalytical processing of routine and DM diagnostic glucose testing in Spain does not allow a significant, non-quantified influence of glycolysis on the results to be ruled out. Possible adverse consequences include a delay in diagnosis and possible under-treatmen

Corrigendum to: Preanalytical issues related to routine and diagnostic glucose tests: Results from a survey in Spain

This is a correction of Biochem Med (Zagreb) 2020;30(1):010704. DOI: https://doi.org/10.11613/ BM.2020.010704 Since the publication of the article, the authors have noticed an error in Table 3, Question 5. The correct Table is presented below. The authors apologize for any inconvenience caused to the readers

Fabry nephropathy: an evidence-based narrative review

Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency. A correct diagnosis of FD, although challenging, has considerable implications regarding treatment, management, and counseling. The diagnosis may be confirmed by demonstrating the enzyme deficiency in males and by identifying the specific GLA gene mutation in male and female patients. Treatment with enzyme replacement therapy, as part of the therapeutic strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline, particularly in the early stages of the disease. Emergent treatments for FD include the recently approved chaperone molecule migalastat for patients with amenable mutations. The objective of this report is to provide an updated overview on Fabry nephropathy, with a focus on the most relevant aspects of its epidemiology, diagnosis, pathophysiology, and treatment options

Proyecto de innovación en tutorías para alumnos de ingeniero químico

Resumen tomado de la publicaciónEl proyecto de acción tutorial se ha llevado a cabo en los cinco cursos de la titulación con un doble enfoque. Por una parte se han organizado grupos de tutoría de unos cinco alumnos en los que se han realizado actividades orientadas a mejorar el rendimiento académico, apoyo en la toma de decisiones, mejora del conocimiento que los alumnos tienen sobre la Universidad y los servicios y actividades que pueden realizar. Por otra parte, se han organizado actividades por cursos o varios cursos, para informar sobre temas generales de su interés, facilitar la realización de prácticas y apoyar a los alumnos de último curso en la incorporación al mercado laboral.NavarraUniversidad Pública de Navarra. Biblioteca Universitaria; Campus de Arrosadia; 31006 Pamplona; Tel. +34948169060; Fax +34948169069; [email protected]

Proyecto de innovación en tutorias para alumnos de ingeniería química

El proyecto de acción tutorial se ha llevado a cabo en los cinco cursos de la titulación con un doble enfoque. Por una parte se han organizado grupos de tutoría de unos cinco alumnos en los que se han realizado actividades orientadas a mejorar el rendimiento académico, apoyo en la toma de decisiones, mejora del conocimiento que los alumnos tienen sobre la Universidad y los servicios y actividades que pueden realizar. Por otra parte, se han organizado actividades por cursos o varios cursos, para informar sobre temas generales de su interés, facilitar la realización de prácticas y apoyar a los alumnos de último curso en la incorporación al mercado laboral