ABSTRACT
OBJECTIVE: This study aimed to identify extremely premature infants (< 31 weeks of gestation and/or <1,500 g) affected by congenital hypothyroidism (CH) with delayed elevation of thyrotropin (TSH) and to evaluate the detection strategy for this pathology in our reference screening population. STUDY DESIGN: A descriptive and retrospective study was carried out with samples collected from western Andalusia and the autonomous city of Ceuta. RESULTS: This protocol allowed us to detect six neonates with delayed TSH elevation. One of them, due to serious heart problems, died without being able to confirm CH. In two neonates, however, it was possible to detect CH, another two presented a persistent TSH elevation but normal free T4, and another one presented a temporary TSH elevation. CONCLUSION: It is essential to repeat the CH screening in extremely premature infants, not only at the age of 15 days but also with a third sample at the moment of hospital discharge to detect cases with delayed TSH elevation. KEY POINTS: · The Newborn Screening Programs are an essential activity of preventive medicine.. · Extremely preterm infants have a very high risk of CH.. · Optimal management of thyroid dysfunction in this population remains to be established..
Subject(s)
Congenital Hypothyroidism , Infant , Infant, Newborn , Humans , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/epidemiology , Infant, Extremely Premature , Retrospective Studies , Thyrotropin , Neonatal Screening/methods , ThyroxineABSTRACT
La hipercolesterolemia severa es un importante factor de riesgo cardiovascular. Su detección precoz y tratamiento puede reducir la incidencia de las enfermedades cardiovasculares. Dada la alta prevalencia de hipercolesterolemia en Andalucía, el desarrollo de una estrategia oportunista para su detección en atención primaria puede ser una medida eficiente. Objetivo: Identificar pacientes en atención primaria con hipercolesterolemias severas que puedan incrementar su riesgo cardiovascular mediante una consulta del colesterol- LDL al sistema informático de laboratorio. Material y métodos: Estudio observacional, retrospectivo, multicéntrico, en 16 hospitales de Andalucía y Ceuta. Se adquirieron datos analíticos anonimizados de los diferentes sistemas informáticos de laboratorio del año 2018 y exclusivamente del Hospital Virgen Macarena para el año 2019. Resultados: De un total de 1.969.035 determinaciones≥18 años se detectaron 2.791 pacientes (0,14%) con colesterol-LDL>250mg/dl, y en menores de 18 años, sobre un total de 2.327.211 determinaciones estudiadas, se detectaron 3.804 pacientes (0,16%) con colesterol-LDL>135mg/dl. La mayor incidencia de posibles hipercolesterolemias genéticas en adultos correspondió a la provincia Sevilla con 23,6 casos/1.000 determinaciones, mientras que en menores la mayor incidencia correspondió a la provincia de Cádiz, con 75 posibles casos/1.000 determinaciones. Se observa un triángulo geográfico de mayor prevalencia entre las provincias de Sevilla, Huelva y Cádiz. Conclusiones: El desarrollo de una estrategia oportunista mediante consulta informática del colesterol-LDL en atención primaria detecta un gran número de sujetos con hipercolesterolemias severas que se podrían beneficiar de una intervención precoz.(AU)
Severe hypercholesterolaemia is a major cardiovascular risk factor. Early detection and treatment can reduce the incidence of cardiovascular disease. Given the high prevalence of hypercholesterolaemia in Andalusia, the development of a screening strategy for its detection in Primary Care may be an efficient measure. Objective: To identify patients in Primary Care with severe hypercholesterolaemia that may increase their cardiovascular risk by reviewing LDL-cholesterol results in computerised laboratory systems. Material and methods: Observational, retrospective, multi-centre study in 16 hospitals in Andalusia and Ceuta. Anonymous analytical data were acquired from the different laboratory computer systems for the year 2018, and exclusively from Macarena Hospital for the year 2019. Results: From a total of 1,969,035 determinations on≥18 years old, 2,791 patients (0.14%) were detected with LDL-cholesterol>250mg/dl and from a total of 2.327.211 determinations studied in children under 18 years old, 3,804 patients (0.16%) were detected with LDL-cholesterol>135mg/dL. The highest incidence of possible genetic hypercholesterolaemia in adults corresponded to the province of Seville with 23.6 cases/1,000 determinations, while in minors, the highest incidence corresponded to the province of Cadiz with 75 possible cases/1,000 determinations. A geographical triangle of greater prevalence is observed between the provinces of Seville, Huelva and Cadiz. Conclusions: The development of a screening strategy using a computerised review of LDL-cholesterol in Primary Care detects a large number of subjects with severe hypercholesterolaemia that could benefit from an early intervention.(AU)
Subject(s)
Humans , Hypercholesterolemia , Primary Health Care , Hospitals , Laboratories , Dyslipidemias , Prevalence , Risk Factors , Spain , Retrospective Studies , Cross-Sectional StudiesABSTRACT
Severe hypercholesterolaemia is a major cardiovascular risk factor. Early detection and treatment can reduce the incidence of cardiovascular disease. Given the high prevalence of hypercholesterolaemia in Andalusia, the development of a screening strategy for its detection in Primary Care may be an efficient measure. OBJECTIVE: To identify patients in Primary Care with severe hypercholesterolaemia that may increase their cardiovascular risk by reviewing LDL-cholesterol results in computerised laboratory systems. MATERIAL AND METHODS: Observational, retrospective, multi-centre study in 16 hospitals in Andalusia and Ceuta. Anonymous analytical data were acquired from the different laboratory computer systems for the year 2018, and exclusively from Macarena Hospital for the year 2019. RESULTS: From a total of 1,969,035 determinations on≥18 years old, 2,791 patients (0.14%) were detected with LDL-cholesterol>250mg/dl and from a total of 2.327.211 determinations studied in children under 18 years old, 3,804 patients (0.16%) were detected with LDL-cholesterol>135mg/dL. The highest incidence of possible genetic hypercholesterolaemia in adults corresponded to the province of Seville with 23.6 cases/1,000 determinations, while in minors, the highest incidence corresponded to the province of Cadiz with 75 possible cases/1,000 determinations. A geographical triangle of greater prevalence is observed between the provinces of Seville, Huelva and Cadiz. CONCLUSIONS: The development of a screening strategy using a computerised review of LDL-cholesterol in Primary Care detects a large number of subjects with severe hypercholesterolaemia that could benefit from an early intervention.
Subject(s)
Hypercholesterolemia , Adolescent , Adult , Child , Cholesterol, LDL , Hospitals , Humans , Hypercholesterolemia/epidemiology , Prevalence , Retrospective Studies , Risk FactorsABSTRACT
INTRODUCTION: Total bilirubin tests are highly demanded in clinical laboratories. Since icteric index (I-index) has zero cost, we aimed to evaluate its clinical utility and cost-effectiveness to determine if total bilirubin is necessary to be tested. We took into account if haemolysis could interfere to icteric index determination. MATERIAL AND METHODS: Retrospectively we reviewed I-index results in two cohorts (43,372 and 8507 non-haemolysed and haemolysed samples, respectively). All determinations were done using Alinity c chemistry analysers (Abbott Diagnostics). Receiver operating characteristic (ROC) curve was used to determine the optimal index cut-off to discriminate between normal and abnormal bilirubin concentration (20.5 µmol/L). RESULTS: The ROC curve analysis suggested 21.4 µmol/L as the optimal I-index cut-off but differences in sensitivity and specificity were detected between patient derivation. For rejecting purpose, 15.4 µmol/L and 17.1 µmol/L I-index thresholds were selected based on patient derivation (inpatients and emergency room; and primary care and outpatients, respectively) with 97% sensitivity and 0.25% false negative results. Sensitivity was much lower in haemolysed samples. We selected 34.2 µmol/L I-index as threshold to detect hyperbilirubinemia with 99.7% specificity and 0.26% false positive results, independent of haemolysis. With the icteric index cut-offs proposed, we would save 66% of total bilirubin requested and analyse total bilirubin in around 2% of samples without total bilirubin requested. CONCLUSIONS: This study supports the use of I-index to avoid bilirubin determination and to identify patients with hyperbilirubinemia. This work considers that the economic and test savings could help to increase the efficiency in clinical laboratories.
Subject(s)
Bilirubin/blood , Hemolysis , Hyperbilirubinemia/blood , Laboratories, Hospital , Female , Humans , Male , Retrospective StudiesABSTRACT
Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled. Despite this expansion, it is not until the 1990s when their coverage reaches almost 100% newborns in Spain. NSP grew up asymmetrically across the different autonomous regions. In 2005 and 2006 the scientific societies SEQC (Spanish Society of Clinical Chemistry) and AECNE (Spanish Society of Newborn Screening), coordinated by the Health Promotion Area of the General Directorate of Public Health, gathered together the necessary information to elaborate a report on the NSP in Spain addressed to the Interterritorial Council of the National Health System. In July 2013, that Council approved the seven diseases that should be part of each region newborn screening panel, being the first step towards the NSP harmonization in Spain. Currently, the NSP include between 8 and 29 diseases in their panels, thus more still more efforts are needed in order to achieve a higher uniformity.
Los Programas de Cribado Neonatal (PCN) nacen en España en Granada en el año 1968. Posteriormente, y hasta los años 80, se fueron desarrollando en torno al llamado "Plan Nacional de Prevención de la Subnormalidad" con una cobertura cercana al 30% de los recién nacidos españoles. A partir de 1982, con el inicio de la gestión de la sanidad a las comunidades autónomas (CCAA), los PCN se expandieron y se comenzaron a sentar las bases para que éstos se convirtieran en una actividad organizada y multidisciplinar, integrados y coordinados desde el Sistema de Salud. A pesar de dicha expansión no es hasta el inicio de la década de los 90 cuando se consigue una cobertura próxima al 100% de los RN en España. Los PCN fueron creciendo de forma muy asimétrica en las diferentes CCAA y en los años 2005 y 2006 las Sociedades Científicas SEQC (Sociedad Española de Química Clínica) y AECNE (Asociación Española de Cribado Neonatal), con la coordinación del Área de Promoción de la Salud de la Dirección General de Salud Pública, recopilaron la información y elaboraron un informe, sobre los PCN en España para el Consejo Interterritorial del sistema Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobó las siete enfermedades que debían formar parte del panel de detección de los PCN territoriales, primer paso hacia la armonización de estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades por lo que es necesario seguir trabajando para conseguir una mayor uniformidad.
Subject(s)
Neonatal Screening/history , Neonatal Screening/organization & administration , History, 20th Century , History, 21st Century , Humans , Infant, Newborn , SpainABSTRACT
OBJECTIVE: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia. METHODS: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA). RESULTS: The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease. CONCLUSIONS: The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them.
OBJETIVO: La principal justificación del trabajo fue describir nuestra experiencia en cribado neonatal y definir la prevalencia de cada una de las enfermedades incluidas en el programa de cribado neonatal de Andalucía, entre las que se encuentran el hipotiroidismo congénito, cribado ampliado expandido (aminoacidopatías, defectos de la beta-oxidación mitocondrial y acidurias orgánicas), fibrosis quística y enfermedad de células falciformes. METODOS: El estudio se realizó en la Unidad del Laboratorio de Metabolopatías del Hospital Universitario Virgen del Rocío de Sevilla con muestras de recién nacidos de Andalucía Occidental (Cádiz, Córdoba, Huelva y Sevilla) y la ciudad autónoma de Ceuta. Para descartar hipotiroidismo congénito y cribado ampliado expandido se estudiaron un total de 435.141 recién nacidos, con fecha de inicio el 1 de abril de 2009. El cribado de fibrosis quística comenzó el 1 de mayo de 2011, siendo estudiados un total de 378.306 recién nacidos. Por último, el 26 de noviembre de 2018 se incorporó el cribado de anemia de células falciformes, que comprendió un total de 55.576 recién nacidos. La fecha fin de estudio fue el 31 de diciembre de 2019 para todas las patologías descritas anteriormente. El análisis estadístico se realizó usando el software IBM SPSS (versión 22, SPSS INC., EEUU). RESULTADOS: El estudio reveló una prevalencia de 1:1.565 recién nacidos para hipotiroidismo congénito, 1:1.532 para cribado ampliado expandido, 1:6.878 para fibrosis quística y 1:11.115 recién nacidos para enfermedad de células falciformes. CONCLUSIONES: El programa de cribado neonatal permite que se beneficien gran número de recién nacidos en la detección precoz de determinadas enfermedades congénitas graves y, con ello, mejora la morbimortalidad de aquellos que las padecen.
Subject(s)
Anemia, Sickle Cell/diagnosis , Congenital Hypothyroidism/diagnosis , Cystic Fibrosis/diagnosis , Metabolism, Inborn Errors/diagnosis , Neonatal Screening , Anemia, Sickle Cell/epidemiology , Congenital Hypothyroidism/epidemiology , Cystic Fibrosis/epidemiology , Early Diagnosis , Humans , Infant, Newborn , Longitudinal Studies , Metabolism, Inborn Errors/epidemiology , Prevalence , Retrospective Studies , Spain/epidemiologyABSTRACT
OBJETIVO: La principal justificación del trabajo fue describir nuestra experiencia en cribado neonatal y definir la prevalencia de cada una de las enfermedades incluidas en el programa de cribado neonatal de Andalucía, entre las que se encuentran el hipotiroidismo congénito, cribado ampliado expandido (aminoacidopatías, defectos de la beta-oxidación mitocondrial y acidurias orgánicas), fibrosis quística y enfermedad de células falciformes. MÉTODOS: El estudio se realizó en la Unidad del Laboratorio de Metabolopatías del Hospital Universitario Virgen del Rocío de Sevilla con muestras de recién nacidos de Andalucía Occidental (Cádiz, Córdoba, Huelva y Sevilla) y la ciudad autónoma de Ceuta. Para descartar hipotiroidismo congénito y cribado ampliado expandido se estudiaron un total de 435.141 recién nacidos, con fecha de inicio el 1 de abril de 2009. El cribado de fibrosis quística comenzó el 1 de mayo de 2011, siendo estudiados un total de 378.306 recién nacidos. Por último, el 26 de noviembre de 2018 se incorporó el cribado de anemia de células falciformes, que comprendió un total de 55.576 recién nacidos. La fecha fin de estudio fue el 31 de diciembre de 2019 para todas las patologías descritas anteriormente. El análisis estadístico se realizó usando el software IBM SPSS (versión 22, SPSS INC., EEUU). RESULTADOS: El estudio reveló una prevalencia de 1:1.565 recién nacidos para hipotiroidismo congénito, 1:1.532 para cribado ampliado expandido, 1:6.878 para fibrosis quística y 1:11.115 recién nacidos para enfermedad de células falciformes. CONCLUSIONES: El programa de cribado neonatal permite que se beneficien gran número de recién nacidos en la detección precoz de determinadas enfermedades congénitas graves y, con ello, mejora la morbimortalidad de aquellos que las padecen
OBJECTIVE: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia. METHODS: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA). RESULTS: The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease. CONCLUSIONS: The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them
Subject(s)
Humans , Infant, Newborn , Anemia, Sickle Cell/diagnosis , Congenital Hypothyroidism/diagnosis , Cystic Fibrosis/diagnosis , Metabolism, Inborn Errors/diagnosis , Neonatal Screening , Anemia, Sickle Cell/epidemiology , Congenital Hypothyroidism/epidemiology , Cystic Fibrosis/epidemiology , Early Diagnosis , Longitudinal Studies , Metabolism, Inborn Errors/epidemiology , Prevalence , Retrospective Studies , Spain/epidemiologyABSTRACT
Las miopatías inflamatorias idiopáticas son un grupo heterogéneo de miopatías potencialmente tratables. Se clasifican en 4 subtipos: dermatomiositis, polimiositis, miositis autoinmune necrosante y miositis por cuerpos de inclusión, en función de las características clínicas e histológicas. Los anticuerpos asociados a miositis y los autoanticuerpos específicos de miositis se encuentran frecuentemente en pacientes con miopatías inflamatorias, siendo útiles en el diagnóstico y clasificación. El anticuerpo anti-histidil tRNA sintetasa es el más prevalente y el más específico para polimiositis. El anticuerpo de partícula de reconocimiento de señal es también un autoanticuerpo especıfico para polimiositis, pero más infrecuente, y raramente se encuentra en pacientes que presentan otros autoanticuerpos específicos para miositis. En este trabajo se presenta un paciente con polimiositis en el que coexisten los 2 autoanticuerpos en el suero, lo que se considera una situación clínica extremadamente rara. Aquí analizamos la evolución clínica y hallazgos para examinar el efecto de la coexistencia y la posible interacción sobre el pronóstico
Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis. Signal recognition particle antibody is also a specific autoantibody for polymyositis, but it is infrequent and rarely found in patients having other myositis-specific autoantibodies. We present a man with polymyositis who had both antibodies in serum, which is considered an extremely rare clinical situation. Here we analyze the clinical course and findings, and examine the effect of the coexistence and possible interaction on prognosis
Subject(s)
Humans , Male , Middle Aged , Autoantibodies/blood , Histidine-tRNA Ligase/immunology , Polymyositis/blood , Signal Recognition Particle/immunologyABSTRACT
Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis. Signal recognition particle antibody is also a specific autoantibody for polymyositis, but it is infrequent and rarely found in patients having other myositis-specific autoantibodies. We present a man with polymyositis who had both antibodies in serum, which is considered an extremely rare clinical situation. Here we analyze the clinical course and findings, and examine the effect of the coexistence and possible interaction on prognosis.
Subject(s)
Autoantibodies/blood , Histidine-tRNA Ligase/immunology , Polymyositis/blood , Signal Recognition Particle/immunology , Humans , Male , Middle AgedABSTRACT
Background. Axial spondyloarthritis (axSpA) is characterized by new bone formation. The complex systems underlying this process involve Wnt-signaling pathway. It has been observed that serum levels of dickkopf-1 (DKK-1), an important inhibitor of Wnt-signaling, are decreased in patients with axSpA. However, these data are from studies including only patients with long-standing disease. The aim of this study is to investigate if symptom duration influences on serum DKK-1 levels in patients with axSpA. Material and methods. A cross-sectional study including consecutive patients with axSpA (ASAS criteria) naïve for anti-TNF therapy. Collected data included demographic and disease characteristics, time since first symptom onset, assessment of disease activity and function, and determination of DKK-1 serum levels. Patients were classified as early axSpA (symptom duration ≤5 years) and established axSpA (>5 years). Linear regression models were employed to investigate the variables related to DKK-1 serum levels. Results. In total, 90 patients were included. Sixty-eight patients had early axSpA and 22 had established disease. Serum levels of DKK-1 were significantly higher in patients with early axSpA compared with established axSpA (22.1±12.6 vs 16.4±10.7pM; p=0.04). Among all tested variables, only symptom duration was significantly and inversely correlated with DKK-1 serum levels (beta: −0.041; p=0.01). Conclusion. Serum DKK-1 levels in axSpA depend on disease duration. As disease duration increases, DKK-1 serum levels decrease. Based on this, an intensive treatment at early stages of the disease could have a better outcome on inhibiting/slowing radiographic progression in patients with axSpA (AU)
Objetivo. Espondiloartritis axial (EsPax) se caracteriza por nueva formación ósea. El complejo sistema que subyace este proceso incluye la vía de señal Wnt. Se ha demostrado que niveles séricos de dickkopf-1 (DKK-1), un importante inhibidor de la vía de señal Wnt, está disminuidos en pacientes con EsPax. Sin embargo, estos datos proceden exclusivamente de pacientes con EsPax de larga duración. El objetivo de este estudio es investigar si la duración de la enfermedad influye en niveles séricos de DKK-1 en pacientes con EsPax. Material y métodos. Estudio transversal en pacientes con EsPax sin terapia anti-TNF. Se recogieron datos demográficos y de la enfermedad, y se determinaron niveles de DKK-1 séricos en la misma visita. Los pacientes fueron clasificados en base a la duración de síntomas en EsPax precoz (≤5 años) y establecida (>5 años). Se emplearon modelos de regresión lineal para investigar las variables asociadas con los niveles de DKK-1. Resultados. Se incluyeron 90 pacientes, 68 con EsPax precoz y 22 con EsPax establecida. Los niveles de DKK-1 fueron superiores en EsPax precoz comparado con EsPax establecida (22.1±12.6 vs 16.4±10.7pM; p=0.04). De todas las variables, sólo la duración de síntomas se asoció significativamente con DKK-1 (beta: −0.041; p=0.01). Conclusiones. Los niveles séricos de DKK-1 en EsPax, dependen de la duración de la enfermedad. A medida que la duración de la enfermedad aumenta, niveles séricos de DKK-1 disminuye. Por lo tanto, el tratamiento intensivo en estadios tempranos de la enfermedad podría tener un mejor resultado en inhibir/disminuir la progresión radiológica en pacientes con EsPax (AU)
Subject(s)
Humans , Spondylarthritis/blood , Spondylarthritis/epidemiology , Bone Morphogenetic Proteins/analysis , Bone Morphogenetic Proteins/blood , Cross-Sectional Studies/methods , Cross-Sectional Studies , Linear ModelsABSTRACT
AIM: The objective was to compare Zenit RA chemiluminescent immunoassay (CLIA) from Menarini Diagnostics and ELISA from INOVA Diagnostics for the presence of specific anti-Ro/SS-A, anti-La/SS-B, anti-U1snRNP, anti-Sm, anti-Scl-70, anti-Jo-1 antibodies. Results/methodology: We studied 501 samples (178 connective autoimmune disease, 150 other autoimmune or inflammatory disease and 173 other disease or healthy). All samples were analyzed using CLIA and ELISA. The Kappa agreement was excellent for anti-SSA/Ro (0.864), good for anti-SSB/La (0.735), anti-Scl-70 (0.685) and ENA-screening (0.778), moderate for anti-RNP (0.563) and bad for anti-Sm (0.266) and anti-Jo-1 (0.243). Different combination of cut-off improved the specificity and agreement. CONCLUSION: Zenit RA CLIA for detecting autoantibodies, provides a simple, useful and accurate tool.
Subject(s)
Antibodies, Antinuclear/analysis , Immunoassay , Luminescent Measurements , Autoimmune Diseases/diagnosis , Case-Control Studies , DNA Topoisomerases, Type I , Enzyme-Linked Immunosorbent Assay , Humans , Logistic Models , Nuclear Proteins/immunology , Ribonucleoproteins, Small Nuclear/immunologyABSTRACT
BACKGROUND: Axial spondyloarthritis (axSpA) is characterized by new bone formation. The complex systems underlying this process involve Wnt-signaling pathway. It has been observed that serum levels of dickkopf-1 (DKK-1), an important inhibitor of Wnt-signaling, are decreased in patients with axSpA. However, these data are from studies including only patients with long-standing disease. The aim of this study is to investigate if symptom duration influences on serum DKK-1 levels in patients with axSpA. MATERIAL AND METHODS: A cross-sectional study including consecutive patients with axSpA (ASAS criteria) naïve for anti-TNF therapy. Collected data included demographic and disease characteristics, time since first symptom onset, assessment of disease activity and function, and determination of DKK-1 serum levels. Patients were classified as early axSpA (symptom duration ≤5 years) and established axSpA (>5 years). Linear regression models were employed to investigate the variables related to DKK-1 serum levels. RESULTS: In total, 90 patients were included. Sixty-eight patients had early axSpA and 22 had established disease. Serum levels of DKK-1 were significantly higher in patients with early axSpA compared with established axSpA (22.1±12.6 vs 16.4±10.7pM; p=0.04). Among all tested variables, only symptom duration was significantly and inversely correlated with DKK-1 serum levels (beta: -0.041; p=0.01). CONCLUSION: Serum DKK-1 levels in axSpA depend on disease duration. As disease duration increases, DKK-1 serum levels decrease. Based on this, an intensive treatment at early stages of the disease could have a better outcome on inhibiting/slowing radiographic progression in patients with axSpA.
Subject(s)
Intercellular Signaling Peptides and Proteins/blood , Spondylarthritis/diagnosis , Adult , Biomarkers/blood , Cross-Sectional Studies , Disease Progression , Female , Humans , Linear Models , Male , Middle Aged , Severity of Illness Index , Spondylarthritis/blood , Spondylarthritis/physiopathology , Time FactorsABSTRACT
La obesidad es la enfermedad nutricional más frecuente en niños y adolescentes en los países desarrollados. Se caracteriza por un estado proinfamatorio que supone una interrupción de las señales de traducción de la insulina con la consiguiente resistencia a la insulina. El objetivo del estudio fue valorar la presencia de factores de riesgo cardiovasculares y de partículas de c-LDL pequeñas y densas mediante el cálculo del índice c-LDL/ApoB-100 en una población infantil obesa insulinorresistente. Se incluyeron niños de ambos sexos con edades comprendidas entre 2 y 12 años que acudieron a las consultas de pediatría del Hospital Universitario Virgen Macarena. Se reclutó una cohorte de 200 niños correspondiente a un total de 97 niños y 103 niñas distribuidos en los siguientes grupos: Grupo 1: n=96 con obesidad (P97) y resistencia a la insulina (RI); y Grupo 2, n=104, con peso normal (P<80). Se calculó el per-centilo del IMC para cada edad y sexo así como se analizó el perfil lipídico y bioquímico. Ambos grupos contaron con el consentimiento informado previo a la extracción de la muestra por parte de los familiares. El cociente c-LDL/ApoB-100 alcanzó mayor significación estadística y área bajo la curva (AUC) que otros cocientes valorados, con una sensibilidad (S)=87 y especificidad (E)=0,585 para el valor de 1,3 y un AUC de 0,78 y p<0,001. Además, se obtuvo una correlación negativa entre el cociente c-LDL/ApoB-100 y el HOMA (p<0,05), el fbrinógeno (p<0,05) y us-PCR (p<0,05). El cociente c-LDL/ApoB-100 podría ser un parámetro determinante de la presencia de partículas pequeñas y densas con alta sensibilidad, significación estadística y valor predictivo positivo en una población infantil obesa e insulinorresistente como herramienta clínica para valorar el riesgo cardiovascular.(AU)
Obesity is the most common( nutritional disease in children and adolescents in developed countries. It is a proinfammatory disease that implies a break in the transduction signal of insulin with subsequent insulin resistance. The aim of the study was to assess the presence of particles of small and dense c-LDL by calculating the c-LDL/ApoB-100 index in an insulin resistant obese children population. Children of both sexes aged between 2 and 12 attending the pediatric outpatient clinics of Hospital Universitario Virgen Macarena were included. It recruited a cohort of 200 children, with a total of 103 girls and 97 boys distributed in the following groups: Group 1: n=96 obese (P97) and IR and n=104 normal weight, Group 2 (P<80). BMI percentile for age and sex as well as lipid and biochemical profle were calculated. Both groups had informed consent from relatives before the extraction. The c-LDL/ApoB-100 achieved greater statistical significance and area under the curve (AUC) than other ratios measured with sensibil-ity (S)=87 and specificity (E)=0.585 for the value of 1.3 with an AUC of 0.78 and p<0.001. Besides, a negative correlation between the c-LDL/Apo-B-100 and HOMA (p<0.05), fbrinogen (p<0.05) and us-PCR (p<0.05) ratios is obtained. The LDL/ApoB-100 ratio is a determining parameter for presence of small and dense LDL particles with high sensitivity, statistical significance and positive predictive value in an insulin resistant obese children population as a clinical tool to assess cardiovascular risk.(AU)
A obesidade é a doenþa nutricional mais comum em crianþas e adolescentes nos países desenvolvidos. Caraceriza-se por um estado pró-infamatório que sup§e uma interrupþÒo dos sinais de traduþÒo da insulina com a conseguinte resistÛncia O insulina. O objetivo do estudo foi avaliar a presenþa de fatores de risco cardiovasculares e de partículas de c-LDL pequenas e densas através do cálculodo índice c-LDL/ Apo B-100 numa populaþÒo infantil resistente O insulina. Foram incluídas crianþas de ambos os sexos com idade entre 2 e 12 anos, que foram Os consultas de pediatria do Hospital Universitário Virgem Macarena. Foi recrutado um grupo de 200 crianþas, correspondente a um total de 97 meninos e 103 meninas distribuídos nos seguintes grupos: Grupo 1: n=96 obesidade (P97) e resistÛncia O insulina (RI) e n=104 Grupo 2 de peso normal (P<80). Calculou-se o percentil do IMC para cada idade e sexo, bem como o perfil lipídico e bioquímico. Ambos os grupos tinham o consentimento informado antes da ex-traþÒo da amostra por parte da família. O quociente de c-LDL/ApoB-100 atinge significaþÒo estatística maior e área sob a curva que outros quocientes avaliados com uma sensibilidade (S)=87 e especificida-de (E)=0,585 para o valor de 1,3, e uma AUC de 0,78 e p<0,001. Além disso, foi obtida uma correla-þÒo negativa entre o quociente c-LDL/Apo-B-100 e o HOMA (p<0,05), o fbrinogÛnio (p<0,05) e us-PCR (p<0,05). O quociente c-LDL/ApoB-100 poderia ser um parÔmetro de determinaþÒo da presenþa de partículas pequenas e densas com alta sensibilidade, significaþÒo estatística e valor preditivo positivo numa populaþÒo infantil obesa e insulino-resistente como ferramenta clínica para avaliar o risco cardiovascular.(AU)
ABSTRACT
La obesidad es la enfermedad nutricional más frecuente en niños y adolescentes en los países desarrollados. Se caracteriza por un estado proinfamatorio que supone una interrupción de las señales de traducción de la insulina con la consiguiente resistencia a la insulina. El objetivo del estudio fue valorar la presencia de factores de riesgo cardiovasculares y de partículas de c-LDL pequeñas y densas mediante el cálculo del índice c-LDL/ApoB-100 en una población infantil obesa insulinorresistente. Se incluyeron niños de ambos sexos con edades comprendidas entre 2 y 12 años que acudieron a las consultas de pediatría del Hospital Universitario Virgen Macarena. Se reclutó una cohorte de 200 niños correspondiente a un total de 97 niños y 103 niñas distribuidos en los siguientes grupos: Grupo 1: n=96 con obesidad (P97) y resistencia a la insulina (RI); y Grupo 2, n=104, con peso normal (P<80). Se calculó el per-centilo del IMC para cada edad y sexo así como se analizó el perfil lipídico y bioquímico. Ambos grupos contaron con el consentimiento informado previo a la extracción de la muestra por parte de los familiares. El cociente c-LDL/ApoB-100 alcanzó mayor significación estadística y área bajo la curva (AUC) que otros cocientes valorados, con una sensibilidad (S)=87 y especificidad (E)=0,585 para el valor de 1,3 y un AUC de 0,78 y p<0,001. Además, se obtuvo una correlación negativa entre el cociente c-LDL/ApoB-100 y el HOMA (p<0,05), el fbrinógeno (p<0,05) y us-PCR (p<0,05). El cociente c-LDL/ApoB-100 podría ser un parámetro determinante de la presencia de partículas pequeñas y densas con alta sensibilidad, significación estadística y valor predictivo positivo en una población infantil obesa e insulinorresistente como herramienta clínica para valorar el riesgo cardiovascular.
Obesity is the most common( nutritional disease in children and adolescents in developed countries. It is a proinfammatory disease that implies a break in the transduction signal of insulin with subsequent insulin resistance. The aim of the study was to assess the presence of particles of small and dense c-LDL by calculating the c-LDL/ApoB-100 index in an insulin resistant obese children population. Children of both sexes aged between 2 and 12 attending the pediatric outpatient clinics of Hospital Universitario Virgen Macarena were included. It recruited a cohort of 200 children, with a total of 103 girls and 97 boys distributed in the following groups: Group 1: n=96 obese (P97) and IR and n=104 normal weight, Group 2 (P<80). BMI percentile for age and sex as well as lipid and biochemical profle were calculated. Both groups had informed consent from relatives before the extraction. The c-LDL/ApoB-100 achieved greater statistical significance and area under the curve (AUC) than other ratios measured with sensibil-ity (S)=87 and specificity (E)=0.585 for the value of 1.3 with an AUC of 0.78 and p<0.001. Besides, a negative correlation between the c-LDL/Apo-B-100 and HOMA (p<0.05), fbrinogen (p<0.05) and us-PCR (p<0.05) ratios is obtained. The LDL/ApoB-100 ratio is a determining parameter for presence of small and dense LDL particles with high sensitivity, statistical significance and positive predictive value in an insulin resistant obese children population as a clinical tool to assess cardiovascular risk.
A obesidade é a doença nutricional mais comum em crianças e adolescentes nos países desenvolvidos. Caraceriza-se por um estado pró-infamatório que supõe uma interrupção dos sinais de tradução da insulina com a conseguinte resistência à insulina. O objetivo do estudo foi avaliar a presença de fatores de risco cardiovasculares e de partículas de c-LDL pequenas e densas através do cálculodo índice c-LDL/ Apo B-100 numa população infantil resistente à insulina. Foram incluídas crianças de ambos os sexos com idade entre 2 e 12 anos, que foram às consultas de pediatria do Hospital Universitário Virgem Macarena. Foi recrutado um grupo de 200 crianças, correspondente a um total de 97 meninos e 103 meninas distribuídos nos seguintes grupos: Grupo 1: n=96 obesidade (P97) e resistência à insulina (RI) e n=104 Grupo 2 de peso normal (P<80). Calculou-se o percentil do IMC para cada idade e sexo, bem como o perfil lipídico e bioquímico. Ambos os grupos tinham o consentimento informado antes da ex-tração da amostra por parte da família. O quociente de c-LDL/ApoB-100 atinge significação estatística maior e área sob a curva que outros quocientes avaliados com uma sensibilidade (S)=87 e especificida-de (E)=0,585 para o valor de 1,3, e uma AUC de 0,78 e p<0,001. Além disso, foi obtida uma correla-ção negativa entre o quociente c-LDL/Apo-B-100 e o HOMA (p<0,05), o fbrinogênio (p<0,05) e us-PCR (p<0,05). O quociente c-LDL/ApoB-100 poderia ser um parâmetro de determinação da presença de partículas pequenas e densas com alta sensibilidade, significação estatística e valor preditivo positivo numa população infantil obesa e insulino-resistente como ferramenta clínica para avaliar o risco cardiovascular.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Body Mass Index , Insulin Resistance , Pediatric Obesity , Obesity/diagnosis , Pediatric Obesity/complicationsABSTRACT
OBJECTIVE: To investigate the relationship between oxidative stress and smoking and development of RA. METHODS: A case-control study was conducted in treatment-naïve early-onset RA patients and healthy controls, matched by age, gender and current smoking habit. Plasma lipid hydroperoxides (LOOH), carbonyl protein (CP) and malonyldialdehyde (MDA) levels were measured to estimate oxidative stress. Smoking exposure was quantified in pack-years. The presence of an interaction between oxidative stress and smoking exposure was investigated using three measures of additive interaction: relative excess risk due to the interaction (RERI), attributable proportion due to the interaction (AP) and the synergy index (S). RESULTS: A total of 65 RA patients and 65 healthy controls were included. Statistically significant differences were observed in RA-related variables, age, BMI and smoking dose between cases and controls. Plasma LOOH and CP levels were associated with RA risk, which was more prominent for LOOH levels >27.9 µM [odds ratio (OR) 18.8] and CP levels >64.3 µM (OR 24.9). A reverse association was observed between MDA levels and RA risk, OR 6.4 for MDA levels <8.5 µM. Having >20 pack-years increased risk for RA with an OR of 19.7. The interaction between smoking and oxidative stress increased RA risk significantly, and RERI between LOOH, CP or MDA and smoke exposure were 8.2, 5.0 and 51.5, respectively. CONCLUSION: These data suggest that the interaction between oxidative stress and smoking increases RA risk.
