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Antecedentes y objetivo: La espondiloartritis axial es una enfermedad inmunomediada con un elevado coste, retraso diagnóstico y complicaciones asociadas, lo que la convierte en una enfermedad con especial importancia. Este trabajo busca por consenso establecer un modelo de certificación (Proyecto SpACE) para consultas monográficas en su diagnóstico y tratamiento. Materiales y métodos: Estudio cualitativo de consenso, a través de la técnica del grupo nominal. Primero, fue realizada una revisión pragmática de la literatura. Segundo, fueron incluidos profesionales involucrados a lo largo del proceso asistencial (reumatología, oftalmología, gastroenterología, traumatología, medicina de familia, fisioterapia y enfermería). Resultados: Producto de la revisión pragmática de la literatura fueron extraídos 37 posibles estándares. Durante la fase de consenso solo aquellos estándares con una elevada factibilidad e importancia en el proceso asistencial fueron priorizados. Finalmente, el grupo de 26 expertos acordó la inclusión de 14 estándares. Discusión y conclusiones: SpaCE es una norma de certificación, fruto del consenso, que busca mejorar los resultados en salud y una atención más integrada.(AU)
Background and objective: Axial spondyloarthritis is an immune-mediated disease with a high cost, diagnostic delay and associated complications that makes it a particularly important condition. This work aims to establish a certification standard (SpACE Project) for monographic consultations in its diagnosis and treatment. Materials and methods: Qualitative study of consensus, through the technique of the nominal group. First, a pragmatic review of the literature was carried out. Second, professionals involved throughout the care process (rheumatology, ophthalmology, gastroenterology, traumatology, family medicine, physical therapy, and nursing) were included. Results: Thirty-seven possible standards were extracted from the pragmatic review of the literature. During the consensus phase only those standards with high feasibility and importance in the care process were prioritized. Finally, the group of 26 experts agreed on the inclusion of 14 standards. Discussion and conclusions: SpaCE is a consensus-based certification standard that seeks to improve health outcomes and more integrated care.(AU)
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Humanos , Espondiloartritis/tratamiento farmacológico , Columna Vertebral , Dolor , Dolor Crónico , Artritis , ReumatologíaRESUMEN
BACKGROUND AND OBJECTIVE: Axial spondyloarthritis is an immune-mediated disease with a high cost, diagnostic delay and associated complications that makes it a particularly important condition. This work aims to establish a certification standard (SpACE Project) for monographic consultations in its diagnosis and treatment. MATERIALS AND METHODS: Qualitative study of consensus, through the technique of the nominal group. First, a pragmatic review of the literature was carried out. Second, professionals involved throughout the care process (rheumatology, ophthalmology, gastroenterology, traumatology, family medicine, physical therapy, and nursing) were included. RESULTS: Thirty-seven possible standards were extracted from the pragmatic review of the literature. During the consensus phase only those standards with high feasibility and importance in the care process were prioritized. Finally, the group of 26 experts agreed on the inclusion of 14 standards. DISCUSSION AND CONCLUSIONS: SpACE is a consensus-based certification standard that seeks to improve health outcomes and more integrated care.
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Espondiloartritis Axial , Reumatología , Certificación , Diagnóstico Tardío , Humanos , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To describe the Fracture Liaison Service (FLS), to know the characteristics of the patients attended with emphasis on sex differences, and to know the compliance of International Osteoporosis Foundation (IOF) quality standards. METHODS: Observational, prospective research. All the consecutive patients that attended in usual clinical practice from May 2018 to October 2019, were over 50 years, and with a fragility fracture (FF), were included. RESULTS: Our FLS is a type A multidisciplinary unit. We included 410 patients, 80% women. FF recorded in 328 women were: Hip (132, 40%), Clinical Vertebral (81, 25%) and No hip No vertebral (115, 35%). Those in 82 men were: Hip (53, 66%), Clinical Vertebral (20, 24%) and No hip No vertebral (9, 10%), p = 0.0001. Men had more secondary osteoporosis (OP). The most remarkable result was the low percentage of patients with OP receiving treatment and the differences between sex. Forty-nine (16%) women versus nine (7%) men had received it at some point in their lives, p = 0.04. The probability of a man not receiving prior treatment was 2.5 (95%CI 1.01-6.51); p = 0.04, and after the FF was 0.64 (0.38-1.09). Treatment adherence in the first year after the FLS was 96% in both sexes. The completion of IOF quality standards was bad for patient identification and reference time. It was poor for initial OP screening standard and good for the remaining ten indicators. CONCLUSIONS: the FLS narrowed the gap in diagnosis, treatment, and follow-up of fragility fracture patients, especially men. The FLS meets the IOF quality standards.
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BACKGROUND AND OBJECTIVE: Axial spondyloarthritis is an immune-mediated disease with a high cost, diagnostic delay and associated complications that makes it a particularly important condition. This work aims to establish a certification standard (SpACE Project) for monographic consultations in its diagnosis and treatment. MATERIALS AND METHODS: Qualitative study of consensus, through the technique of the nominal group. First, a pragmatic review of the literature was carried out. Second, professionals involved throughout the care process (rheumatology, ophthalmology, gastroenterology, traumatology, family medicine, physical therapy, and nursing) were included. RESULTS: Thirty-seven possible standards were extracted from the pragmatic review of the literature. During the consensus phase only those standards with high feasibility and importance in the care process were prioritized. Finally, the group of 26 experts agreed on the inclusion of 14 standards. DISCUSSION AND CONCLUSIONS: SpaCE is a consensus-based certification standard that seeks to improve health outcomes and more integrated care.
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INTRODUCTION: The current paradigm of the management of rheumatoid arthritis (RA) recommends achieving a state of remission or low disease activity through the treat-to-target strategy. Our study assesses adherence to this strategy. METHOD: Patients with RA (ACR-EULAR 2010 criteria) were included. From each centre, 19 patients were randomly selected. Clinical histories (CH) were assessed by independent auditors, checking compliance with predefined quality criteria. The study was approved by ethics committees. RESULTS: We included 856 patients (mean age 54 years; 71% women). The use of a combined index (CI) was recorded in 61% of cases. Visits were recorded every 4 weeks using a CI in 4% of CH while attempts were made to achieve remission. Monitoring of disease activity every 6-8 months after reaching the target was recorded in 73% of cases. CONCLUSIONS: The implementation of the treat-to-target strategy is barely recorded in patients with RA in routine clinical practice.
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OBJETIVO: El proyecto AR Excellence evalúa la atención clínica a los pacientes con artritis reumatoide (AR) en España. El objetivo del presente estudio es analizar la utilización de metotrexato (MTX) en AR Excellence y compararla con las recomendaciones vigentes. PACIENTES Y MÉTODOS: Se revisó a pacientes con AR que habían iniciado tratamiento con MTX, recogiendo datos demográficos, dosificación, vías de administración, combinaciones con otros fármacos antirreumáticos modificadores de enfermedad (FAME), tiempo hasta combinación con otro FAME (convencional o biológico) y efectos adversos. RESULTADOS: Se incluyó a 625 pacientes con AR (edad media de 55,1 años; 70,6% mujeres), con una duración media de la AR de 21,3 meses. El 90% inició tratamiento con MTX. La dosis media de inicio fue de 11mg semanales; en el 58% de los casos se incrementó la dosis. El tiempo medio hasta alcanzar la dosis plena de MTX (20mg semanales) fue de 6,67 meses. El tiempo hasta la combinación de MTX con otro FAME sintético o biológico fue de 3 meses. El 67,4% de los pacientes recibieron el MTX por vía oral y el 18,6%, subcutáneo. En el 12% de los casos se cambió la vía de administración, transcurrida una media de tiempo de 6 meses. En 544 pacientes se asociaron suplementos de folato. El 17,3% de los sujetos presentaron acontecimientos adversos por MTX. CONCLUSIÓN: El MTX es el fármaco sobre el que pivota el tratamiento de la AR. El subanálisis del proyecto AR Excellence nos informa de que la escalada a sus dosis plenas no se realiza con la rapidez adecuada. La vía subcutánea se utiliza en pocos pacientes
OBJECTIVE: The AR Excellence project evaluates clinical monitoring in patients with rheumatoid arthritis (RA) in Spain. The aim of the study was to analyze the use of methotrexate (MTX) in the AR Excellence cohort and to compare it with current recommendations. PATIENTS AND METHODS: We collected data from RA patients who initiated treatment with MTX. They included demographics, dose and routes of administration, switching among them, highest dose in each route, combinations with other disease-modifying antirheumatic drugs (DMARDs), time to combination with another DMARD (either conventional or biological) and adverse events. RESULTS: Six hundred twenty-five patients with RA (mean age 55 years; 70.6% women) were included, with an average disease duration of 21 months. Ninety percent of the patients initiated treatment with MTX. Therapy was begun with a mean dose of 11mg per week; this initial dose was increased in 58% of the individuals. The average time to reach the full dose of MTX (20mg a week) was 6,67 months. Time to combination of MTX with another DMARD, either synthetic or biological, was 3 months. In all, 67.4% of the patients received oral MTX and the route was subcutaneous in 18.6%. In 12% of the cases, there was a change in the route of administration after a period of 6 months. In 544 patients, folate supplements were added to MTX; MTX-related adverse events were detected in 17.3% of the patients. CONCLUSION: MTX is currently the pivotal treatment in RA. The subanalysis of the AR Excellence project demonstrates that MTX escalation to its full doses is not done with adequate speed. The subcutaneous route is used in a small proportion of patients
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Metotrexato/uso terapéutico , Evaluación de Programas y Proyectos de Salud , Estudios Retrospectivos , EspañaRESUMEN
Objetivo: El paradigma actual en el tratamiento de la artritis reumatoide (AR) contempla el diagnóstico temprano y el uso precoz de fármacos modificadores de enfermedad (FAME) para alcanzar la remisión o baja actividad inflamatoria, lo cual, se conoce como «treat to target» (T2T). El objetivo del trabajo es desarrollar un indicador compuesto (IC) para evaluar la calidad asistencial en el manejo de los pacientes con AR atendiendo a la estrategia T2T y a otras recomendaciones generales para la atención de estos pacientes. Material y método: La construcción del IC siguió las fases: 1) selección de los criterios de calidad mediante un juicio de expertos; 2) priorización de los criterios, a partir de un Delphi con 20 expertos; 3) diseño de los indicadores de calidad, y 4) cálculo del IC ponderado. La fuente de información para el cálculo del IC son las historias clínicas de los pacientes con AR. Resultados: De los 37 criterios seleccionados, 12 necesitaron una segunda ronda Delphi. Se priorizaron 31 criterios, los cuales presentaron una mediana en relevancia y factibilidad, en las rondas Delphi, mayor o igual a 7,5, con un rango intercuartílico inferior a 3,5, y un grado de acuerdo (puntuación mayor o igual a 8) igual o superior al 80%. Conclusiones: El IC construido, consensuado y ponderado, permite evaluar la calidad asistencial de los pacientes con AR, en las Unidades de Reumatología de hospitales españoles, ofreciendo una medida resumen válida y fácilmente interpretable
Objective: The current guidelines in the treatment of rheumatoid arthritis (RA) include the early diagnosis and early use of disease modifying drugs to achieve remission or low disease activity level, known as "Treat to Target" (T2T). The objective of this study is to develop a composite indicator (CI) to evaluate the quality of care in the management of patients with RA, according to the T2T strategy and other general recommendations concerning the management of these patients. Material and method: The phases of the construction of the CI were: 1) selection of quality criteria through expert judgment; 2) prioritization of the criteria, according to relevance and feasibility, applying the Delphi methodology (two rounds) involving 20 experts; 3) design of quality indicators; and 4) calculation of the weighted CI, using the mean value in relevance and feasibility granted by the experts. The source of information for the calculation of the CI are the medical records of patients with RA. Results: Twelve criteria out of 37 required a second Delphi round. Thirty-one criteria were prioritized. These criteria presented a median in relevance and feasibility greater than or equal to 7.5, with an interquartile range of less than 3.5, and a level of agreement (score greater than or equal to 8) greater than or equal to 80%. Conclusions: The constructed CI allows us to evaluate the quality of care of patients with RA following the T2T strategy in the rheumatology units of Spanish hospitals, offering a valid and easily interpretable summary measure
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Humanos , Artritis Reumatoide/epidemiología , Unidades Hospitalarias/organización & administración , Calidad de la Atención de Salud/organización & administración , Atención a la Salud/tendencias , Indicadores de Calidad de la Atención de SaludRESUMEN
OBJECTIVE: The current guidelines in the treatment of rheumatoid arthritis (RA) include the early diagnosis and early use of disease modifying drugs to achieve remission or low disease activity level, known as "Treat to Target" (T2T). The objective of this study is to develop a composite indicator (CI) to evaluate the quality of care in the management of patients with RA, according to the T2T strategy and other general recommendations concerning the management of these patients. MATERIAL AND METHOD: The phases of the construction of the CI were: 1) selection of quality criteria through expert judgment; 2) prioritization of the criteria, according to relevance and feasibility, applying the Delphi methodology (two rounds) involving 20 experts; 3) design of quality indicators; and 4) calculation of the weighted CI, using the mean value in relevance and feasibility granted by the experts. The source of information for the calculation of the CI are the medical records of patients with RA. RESULTS: Twelve criteria out of 37 required a second Delphi round. Thirty-one criteria were prioritized. These criteria presented a median in relevance and feasibility greater than or equal to 7.5, with an interquartile range of less than 3.5, and a level of agreement (score greater than or equal to 8) greater than or equal to 80%. CONCLUSIONS: The constructed CI allows us to evaluate the quality of care of patients with RA following the T2T strategy in the rheumatology units of Spanish hospitals, offering a valid and easily interpretable summary measure.
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Artritis Reumatoide/terapia , Servicio Ambulatorio en Hospital , Indicadores de Calidad de la Atención de Salud , Calidad de la Atención de Salud , Antirreumáticos/uso terapéutico , Técnica Delphi , Testimonio de Experto , Humanos , Registros Médicos , EspañaRESUMEN
OBJECTIVE: The AR Excellence project evaluates clinical monitoring in patients with rheumatoid arthritis (RA) in Spain. The aim of the study was to analyze the use of methotrexate (MTX) in the AR Excellence cohort and to compare it with current recommendations. PATIENTS AND METHODS: We collected data from RA patients who initiated treatment with MTX. They included demographics, dose and routes of administration, switching among them, highest dose in each route, combinations with other disease-modifying antirheumatic drugs (DMARDs), time to combination with another DMARD (either conventional or biological) and adverse events. RESULTS: Six hundred twenty-five patients with RA (mean age 55 years; 70.6% women) were included, with an average disease duration of 21 months. Ninety percent of the patients initiated treatment with MTX. Therapy was begun with a mean dose of 11mg per week; this initial dose was increased in 58% of the individuals. The average time to reach the full dose of MTX (20mg a week) was 6,67 months. Time to combination of MTX with another DMARD, either synthetic or biological, was 3 months. In all, 67.4% of the patients received oral MTX and the route was subcutaneous in 18.6%. In 12% of the cases, there was a change in the route of administration after a period of 6 months. In 544 patients, folate supplements were added to MTX; MTX-related adverse events were detected in 17.3% of the patients. CONCLUSION: MTX is currently the pivotal treatment in RA. The subanalysis of the AR Excellence project demonstrates that MTX escalation to its full doses is not done with adequate speed. The subcutaneous route is used in a small proportion of patients.
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Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Metotrexato/uso terapéutico , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Programas y Proyectos de Salud , Estudios Retrospectivos , EspañaRESUMEN
Objetivo. Existen pacientes con artritis reumatoide (AR) que no responden de la forma deseada a la terapia biológica. Nuestro objetivo fue reconocer los atributos del FAME biológico (FAMEb) que podrían identificar al más adecuado en las primeras líneas de tratamiento de la AR. Métodos. Para reconocer los atributos que podrían definir el FAMEb, se realizó una búsqueda sistemática de la literatura acerca de aspectos generales, farmacología, eficacia, seguridad, administración y coste. A continuación, se realizó un proceso Delphi a 2 rondas entre un grupo de reumatólogos expertos en el manejo de la AR para determinar el grado de acuerdo con los atributos identificados, indicando el grado de importancia que se le daba a cada atributo. Se aplicaron 2 criterios para determinar la consistencia de los resultados: 1) sobre la base de la mediana y el rango intercuartílico, y 2) el cumplimiento simultáneo de media, mediana, desviación estándar, rango intercuartílico y coeficiente de variación. Se determinaron también la concordancia y la ratificación final del panel de expertos. Resultados. Ochenta y tres reumatólogos españoles completaron las 2 circulaciones del proceso Delphi. Ninguno de los 77 atributos identificados se consideró de baja importancia, 75 de los 77 (97,4%) se consideraron de alta importancia y 76 de los 77 (98,7%) fueron ratificados. Quince tuvieron el apoyo del 100% del grupo de trabajo. Conclusiones. Quince atributos tuvieron el apoyo del 100% del grupo de trabajo y podrían considerarse los que definirían el FAMEb ideal en las primeras líneas de tratamiento de la AR (AU)
Objective. To date, between 17% and 35% of patients with rheumatoid arthritis (RA) do not respond as expected to the initial biological therapy. The objective of this project is to recognize and weigh the attributes of biologic DMARD (bDMARD) to identify the most appropriate for each case, in the first lines of treatment of RA (after inadequate response to at least one synthetic DMARD or previous bDMARD). Methods. To recognize the possible attributes that could define the bDMARD, we performed a systematic search of the literature that recognized the possible attributes involving general aspects, pharmacology, efficacy, safety, management, and cost. Then a Delphi process was conducted with two rounds among a group of selected expert rheumatologists in the management of RA indicating the degree of agreement with the attributes identified in the literature. The project was completed between February and September 2015, indicating the degree of importance that was ascribed to each attribute. Two criteria were applied to determine the consistency of results: 1) based on the median and interquartile range; and 2) on the simultaneous compliance with mean, median, standard deviation, interquartile range and coefficient of variation. The agreement and final ratification of the expert panel were also determined. Results. Eighty-three Spanish rheumatologists participated and completed both rounds of the Delphi process. In no case was the importance of the 77 attributes identified considered to be low; 75 of 77 (97.4%) were considered highly important and 76 of 77 (98.7%) were ratified. Fifteen attributes had the support of 100% of the working group. Conclusions. There was a high degree of agreement concerning the selected attributes. Fifteen of them had the support of 100% of the working group and could be considered the definition of the ideal bDMARD in the first lines of RA treatment (AU)
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Humanos , Artritis Reumatoide/tratamiento farmacológico , Antirreumáticos/uso terapéutico , Terapia Biológica , Inflamación/tratamiento farmacológico , Medicina de Precisión/tendencias , Revisión por Pares/métodosRESUMEN
OBJECTIVE: To date, between 17% and 35% of patients with rheumatoid arthritis (RA) do not respond as expected to the initial biological therapy. The objective of this project is to recognize and weigh the attributes of biologic DMARD (bDMARD) to identify the most appropriate for each case, in the first lines of treatment of RA (after inadequate response to at least one synthetic DMARD or previous bDMARD). METHODS: To recognize the possible attributes that could define the bDMARD, we performed a systematic search of the literature that recognized the possible attributes involving general aspects, pharmacology, efficacy, safety, management, and cost. Then a Delphi process was conducted with two rounds among a group of selected expert rheumatologists in the management of RA indicating the degree of agreement with the attributes identified in the literature. The project was completed between February and September 2015, indicating the degree of importance that was ascribed to each attribute. Two criteria were applied to determine the consistency of results: 1) based on the median and interquartile range; and 2) on the simultaneous compliance with mean, median, standard deviation, interquartile range and coefficient of variation. The agreement and final ratification of the expert panel were also determined. RESULTS: Eighty-three Spanish rheumatologists participated and completed both rounds of the Delphi process. In no case was the importance of the 77 attributes identified considered to be low; 75 of 77 (97.4%) were considered highly important and 76 of 77 (98.7%) were ratified. Fifteen attributes had the support of 100% of the working group. CONCLUSIONS: There was a high degree of agreement concerning the selected attributes. Fifteen of them had the support of 100% of the working group and could be considered the definition of the ideal bDMARD in the first lines of RA treatment.
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Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Factores Biológicos/uso terapéutico , Toma de Decisiones Clínicas , Humanos , Resultado del TratamientoRESUMEN
OBJECTIVE: Copy number variants (CNVs) have been associated with the risk to develop multiple autoimmune diseases. Our objective was to identify CNVs associated with the risk to develop psoriatic arthritis (PsA) using a genome-wide analysis approach. METHODS: A total of 835 patients with PsA and 1498 healthy controls were genotyped for CNVs using the Illumina HumanHap610 BeadChip genotyping platform. Genomic CNVs were characterised using CNstream analysis software and analysed for association using the χ(2) test. The most significant genomic CNV associations with PsA risk were independently tested in a validation sample of 1133 patients with PsA and 1831 healthy controls. In order to test for the specificity of the variants with PsA aetiology, we also analysed the association to a cohort of 822 patients with purely cutaneous psoriasis (PsC). RESULTS: A total of 165 common CNVs were identified in the genome-wide analysis. We found a highly significant association of an intergenic deletion between ADAMTS9 and MAGI1 genes on chromosome 3p14.1 (p=0.00014). Using the independent patient and control cohort, we validated the association between ADAMTS9-MAGI1 deletion and PsA risk (p=0.032). Using next-generation sequencing, we characterised the 26 kb associated deletion. Finally, analysing the PsC cohort we found a lower frequency of the deletion compared with the PsA cohort (p=0.0088) and a similar frequency to that of healthy controls (p>0.3). CONCLUSIONS: The present genome-wide scan for CNVs associated with PsA risk has identified a new deletion associated with disease risk and which is also differential from PsC risk.
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Proteínas ADAM/genética , Artritis Psoriásica/genética , Moléculas de Adhesión Celular Neuronal/genética , Eliminación de Gen , Proteína ADAMTS9 , Proteínas Adaptadoras Transductoras de Señales , Adulto , Anciano , Estudios de Casos y Controles , Moléculas de Adhesión Celular , Variaciones en el Número de Copia de ADN , Femenino , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genotipo , Guanilato-Quinasas , Humanos , Masculino , Persona de Mediana Edad , Psoriasis/genética , Factores de RiesgoRESUMEN
La mielitis transversa es una inflamación focal poco frecuente de la médula espinal. Su etiología es múltiple y entre ellas se encuentran las enfermedades autoinmunes, incluyendo principalmente el lupus eritematoso sistémico y el síndrome de Sjögren. Su presentación clínica puede ser de forma aguda o subaguda, con peor pronóstico en la mielitis transversa aguda. Un diagnóstico precoz y tratamiento intensivo desde el inicio es de gran importancia en la evolución de este tipo de pacientes. Presentamos 3 casos con mielitis transversa asociados a enfermedades autoinmunes y discutimos sus distintas manifestaciones clínicas, la asociación a autoanticuerpos, las imágenes radiológicas, el tratamiento y el pronóstico (AU)
Transverse myelitis is a rare focal inflammation of the spinal cord. Multiple etiologies have been identified including autoimmune diseases, mainly systemic lupus erythematosus and Sjögren syndrome. It can occur in an acute or subacute clinical onset, with the acute presentation having a worse prognosis. An early diagnosis and intensive treatment are important features recommended in these patients. We present three cases with transverse myelitis associated with autoimmune diseases. We discuss different clinical manifestations, association with autoantobodies, radiologic findings, and therapeutic and prognostic issues (AU)
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Humanos , Femenino , Adulto , Persona de Mediana Edad , Mielitis Transversa/complicaciones , Mielitis Transversa/diagnóstico , Mielitis Transversa/terapia , Síndrome de Sjögren/complicaciones , Síndrome de Sjögren/diagnóstico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Pronóstico , Mielitis Transversa/tratamiento farmacológico , Mielitis Transversa/fisiopatología , Mielitis Transversa , Lupus Eritematoso Sistémico/tratamiento farmacológico , Lupus Eritematoso Sistémico/fisiopatología , Lupus Eritematoso Sistémico , Diagnóstico Precoz , Imagen por Resonancia Magnética/métodosRESUMEN
Transverse myelitis is a rare focal inflammation of the spinal cord. Multiple etiologies have been identified including autoimmune diseases, mainly systemic lupus erythematosus and Sjögren' syndrome. It can occur in an acute or subacute clinical onset, with the acute presentation having a worse prognosis. An early diagnosis and intensive treatment are important features recommended in these patients. We present three cases with transverse myelitis associated with autoimmune diseases. We discuss different clinical manifestations, association with autoantobodies, radiologic findings, and therapeutic and prognostic issues.
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Lupus Eritematoso Sistémico/diagnóstico , Mielitis Transversa/etiología , Síndrome de Sjögren/diagnóstico , Adulto , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Persona de Mediana Edad , Mielitis Transversa/diagnóstico , Síndrome de Sjögren/complicacionesRESUMEN
Aim: Variation at PDE3A-SLCO1C1 locus has been recently associated with the response to anti-TNF therapy in rheumatoid arthritis. We undertook the present study to determine whether PDE3A-SLCO1C1 is also associated with the response to anti-TNF therapy in psoriatic arthritis. Patients & methods: Genomic DNA was obtained from 81 psoriatic arthritis patients that had been treated with anti-TNF therapy. PDE3A-SLCO1C1 SNP rs3794271 was genotyped using Taqman realt-time PCR. The clinical response to anti-TNF therapy was measured as the change from baseline in the level of disease activity according to the DAS28 score. Results: A significant association between rs3794271 and anti-TNF response in psoriatic arthritis was found (beta = -0.71; p = 0.0036). Conclusion: PDE3A-SLCO1C1 locus is also associated with response to anti-TNF therapy in psoriatic arthritis. Original submitted 12 May 2014; Revision submitted 18 August 2014.
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Recent genome-wide association studies (GWASs) have identified >20 new loci associated with the susceptibility to psoriasis vulgaris (PsV) risk. We investigated the association of PsV and its main clinical subphenotypes with 32 loci having previous genome-wide evidence of association with PsV (P < 5e-8) or strong GWAS evidence (P < 5e-5 in discovery and P < 0.05 in replication sample) in a large cohort of PsV patients (n = 2005) and controls (n = 1497). We provide the first independent replication for COG6 (P = 0.00079) and SERPINB8 (P = 0.048) loci with PsV. In those patients having developed psoriatic arthritis (n = 955), we found, for the first time, a strong association with IFIH1 (P = 0.013). Analyses of clinically relevant PsV subtypes yielded a significant association of severity of cutaneous disease with variation at LCE3D locus (P = 0.0005) in PsV and nail involvement with IL1RN in purely cutaneous psoriasis (PsC, P = 0.007). In an exploratory analysis of epistasis, we replicated the previously described HLA-C-ERAP1 interaction with PsC. Our findings show that common genetic variants associated with a complex phenotype like PsV influence different subphenotypes of high clinical relevance.
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Variación Genética , Fenotipo , Psoriasis/genética , Proteínas Adaptadoras del Transporte Vesicular/genética , Proteínas Adaptadoras del Transporte Vesicular/metabolismo , Alelos , Aminopeptidasas/genética , Aminopeptidasas/metabolismo , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genotipo , Antígenos HLA-C/genética , Antígenos HLA-C/inmunología , Humanos , Proteína Antagonista del Receptor de Interleucina 1/genética , Masculino , Antígenos de Histocompatibilidad Menor , Piel/inmunología , Piel/metabolismoRESUMEN
Dentro de las manifestaciones extraintestinales de la enfermedad inflamatoria intestinal (EII), el pioderma gangrenoso (PG) plantea con frecuencia dificultades terapéuticas. Describimos 2 casos de PG asociados a enfermedad inflamatoria intestinal, con buena respuesta al tratamiento con infliximab (AU)
Among the extraintestinal manifestations of inflammatory bowel disease (IBD), pyoderma gangrenosum (PG) often poses a therapeutic challenge. We describe two cases of PG associated with inflammatory bowel disease, who responded to treatment with Infliximab (AU)
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Piodermia Gangrenosa/complicaciones , Piodermia Gangrenosa/diagnóstico , Piodermia Gangrenosa/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/complicaciones , Enfermedades Inflamatorias del Intestino/diagnóstico , Enfermedad de Crohn/complicaciones , Úlcera Cutánea/complicaciones , Úlcera Cutánea/tratamiento farmacológico , Piodermia Gangrenosa/fisiopatología , Enfermedades Inflamatorias del Intestino/fisiopatología , Enfermedades Inflamatorias del Intestino , Colonoscopía , Nutrición Parenteral/métodos , Nutrición ParenteralRESUMEN
Among the extraintestinal manifestations of inflammatory bowel disease (IBD), pyoderma gangrenosum (PG) often poses a therapeutic challenge. We describe two cases of PG associated with inflammatory bowel disease, who responded to treatment with Infliximab.
Asunto(s)
Anticuerpos Monoclonales/uso terapéutico , Antirreumáticos/uso terapéutico , Enfermedad de Crohn/complicaciones , Piodermia Gangrenosa/etiología , Adenocarcinoma/complicaciones , Adenocarcinoma/radioterapia , Adenocarcinoma/cirugía , Adulto , Terapia Combinada , Enfermedad de Crohn/tratamiento farmacológico , Diabetes Mellitus Tipo 2/complicaciones , Antígeno HLA-B27/análisis , Humanos , Infliximab , Úlcera de la Pierna/tratamiento farmacológico , Úlcera de la Pierna/etiología , Úlcera de la Pierna/cirugía , Masculino , Mesalamina/uso terapéutico , Persona de Mediana Edad , Neoplasias de la Próstata/complicaciones , Neoplasias de la Próstata/radioterapia , Neoplasias de la Próstata/cirugía , Piodermia Gangrenosa/tratamiento farmacológico , Fístula Rectal/etiología , Trasplante de Piel , Úlcera Cutánea/tratamiento farmacológico , Úlcera Cutánea/etiología , Espondilitis Anquilosante/complicacionesAsunto(s)
Adenocarcinoma Mucinoso/secundario , Colestasis/etiología , Neoplasias de los Músculos/secundario , Neoplasias Pancreáticas/patología , Músculos Psoas , Adenocarcinoma Mucinoso/diagnóstico , Anciano , Femenino , Humanos , Pierna , Neoplasias de los Músculos/diagnóstico , Debilidad Muscular/etiología , Neoplasias Pancreáticas/diagnósticoRESUMEN
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