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1.
Rheumatology (Oxford) ; 60(12): 5647-5658, 2021 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-33620072

RESUMEN

OBJECTIVE: To assess the potential diagnostic utility of advanced lymphocyte profiling to differentiate between primary Sjögren's Syndrome (pSS) and non-Sjögren Sicca syndrome. METHODS: Distribution of peripheral lymphocyte subpopulations was analysed by flow cytometry in 68 patients with pSS, 26 patients with sicca syndrome and 23 healthy controls. The ability to discriminate between pSS and sicca syndrome was analysed using the area under the curve (AUC) of the receiver operating characteristic curve of the different lymphocyte subsets. RESULTS: The ratio between naïve/memory B cell proportions showed an AUC of 0.742 to differentiate pSS and sicca syndrome, with a sensitivity of 76.6% and a specificity of 72% for a cut-off value of 3.4. The ratio of non-switched memory B cells to activated CD4+ T cells percentage (BNSM/CD4ACT) presented the highest AUC (0.840) with a sensitivity of 83.3% and specificity of 81.7% for a cut-off value <4.1. To differentiate seronegative pSS patients from sicca patients, the BNSM/CD4ACT ratio exhibited an AUC of 0.742 (sensitivity 75%, specificity 66.7%, cut-off value <4.4), and the number of naïve CD4 T cells had an AUC of 0.821 (sensitivity 76.9%, specificity 88.9%, cut-off value <312/mm3). CONCLUSION: Patients with pSS show a profound imbalance in the distribution of circulating T and B lymphocyte subsets. The ratio BNSM/CD4ACT is useful to discriminate between pSS and sicca syndrome.


Asunto(s)
Queratoconjuntivitis Seca/diagnóstico , Subgrupos Linfocitarios/patología , Síndrome de Sjögren/diagnóstico , Adulto , Anciano , Diagnóstico Diferencial , Femenino , Citometría de Flujo , Estudios de Seguimiento , Humanos , Queratoconjuntivitis Seca/inmunología , Subgrupos Linfocitarios/inmunología , Masculino , Persona de Mediana Edad , Curva ROC , Estudios Retrospectivos , Síndrome de Sjögren/inmunología
2.
Am J Hum Genet ; 100(1): 64-74, 2017 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-28041642

RESUMEN

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10-54, per-allele OR = 1.79; and rs9275592, p = 1.14 × 10-40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10-10, OR = 1.28; and rs128738, p = 4.60 × 10-9, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis.


Asunto(s)
Alelos , Predisposición Genética a la Enfermedad/genética , Variación Genética , Estudio de Asociación del Genoma Completo , Arteritis de Células Gigantes/genética , Plasminógeno/genética , Prolil Hidroxilasas/genética , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Europa (Continente)/etnología , Femenino , Humanos , Masculino , Neovascularización Fisiológica , Polimorfismo de Nucleótido Simple/genética , Riesgo
3.
Am J Hum Genet ; 96(4): 565-80, 2015 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-25817017

RESUMEN

We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DRß1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1(∗)04. An omnibus test on polymorphic amino acid positions highlighted DRß1 13 (p = 4.08 × 10(-43)) and HLA-DQα1 47 (p = 4.02 × 10(-46)), 56, and 76 (both p = 1.84 × 10(-45)) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 × 10(-6), OR = 1.38), LRRC32 (rs10160518, p = 4.39 × 10(-6), OR = 1.20), and REL (rs115674477, p = 1.10 × 10(-5), OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function.


Asunto(s)
Genes MHC Clase II/genética , Arteritis de Células Gigantes/genética , Herencia Multifactorial/genética , Estudios de Cohortes , Estudios de Asociación Genética , Genotipo , Humanos , Análisis Multivariante , Oportunidad Relativa , Población Blanca/genética
4.
Med Clin (Barc) ; 153(12): 446-453, 2019 12 27.
Artículo en Inglés, Español | MEDLINE | ID: mdl-31320135

RESUMEN

BACKGROUND AND OBJECTIVE: Hip fracture is a common injury among elderly patients. The main goal of our study was to assess the effectiveness of a multidisciplinary educational intervention aimed at hip fracture patients to promote home discharges and reduce in-hospital complications. MATERIAL AND METHOD: A quasi-experimental study was performed by taking repeated measurements at hospital admission, at hospital discharge, and at both 30days and one year of discharge. Patients aged ≥65years with hip fracture who were admitted to the Orthogeriatric Service between February 2016 and January 2017 were included in the study. The educational intervention consisted in two coordinated actions: patient education administered during their hospitalization and multimodal support provided during their discharge home. RESULTS: A total of 67 patients were included in the study (77.6% of whom were women; 84.19±7,78 years old). Of these, 70.1% were discharged home, which doubles the figures recorded in the 2014-2015 period. The rate of readmission at 30days and one year of the discharge was 8.5%. At the one-year follow-up, the patient's dependence to perform basic activities of daily living was nearer to the pre-fracture level (Barthel: 86.67±19.31; 94.33±14.66), their mobility had improved in comparison with the time of discharge (Parker: 4.73±1.84; 6.73±2.76; Timed Up and Go Test: 38.29±21.27; 21.91±10.97), and their cognitive function had not worsened significantly. The patient education measures improved the patients' autonomy as perceived by the patients, the caregivers, and the healthcare providers. Satisfaction with the healthcare received was high. CONCLUSIONS: As a novelty to the already described benefits in orthogeriatric care models, this study would contribute by proving an increase of the number of patients discharged home in a safe condition.


Asunto(s)
Fracturas de Cadera/terapia , Servicios de Atención de Salud a Domicilio , Educación del Paciente como Asunto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Grupo de Atención al Paciente , Alta del Paciente
5.
Autoimmun Rev ; 12(2): 235-40, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22796280

RESUMEN

The Churg-Strauss Syndrome is an ANCA-associated vasculitis, an inflammatory multisystem disease with preference to the respiratory tract. Peripheral and tissue eosinophilia are the pathological hallmarks of this condition. The etiopathogenesis is unknown but some cytokines appear to play a central role and could be targets for new therapies.


Asunto(s)
Síndrome de Churg-Strauss/etiología , Animales , Anticuerpos Anticitoplasma de Neutrófilos/inmunología , Asma/complicaciones , Linfocitos B/inmunología , Linfocitos B/metabolismo , Comunicación Celular , Quimiocinas CC/inmunología , Quimiocinas CC/metabolismo , Síndrome de Churg-Strauss/complicaciones , Eosinófilos/inmunología , Eosinófilos/metabolismo , Humanos , Células Th17/inmunología , Células Th17/metabolismo , Células Th2/inmunología , Células Th2/metabolismo
6.
Med. clín (Ed. impr.) ; 153(12): 446-453, dic. 2019. graf, tab
Artículo en Español | IBECS (España) | ID: ibc-188454

RESUMEN

Antecedentes y objetivo: La fractura de fémur (FF) es una lesión frecuente en personas de edad avanzada. El objetivo fue evaluar la efectividad de una intervención educativa multidisciplinar en pacientes con FF para favorecer el regreso al domicilio y disminuir las complicaciones hospitalarias. Material y método: Estudio cuasiexperimental con medidas repetidas al ingreso, al alta, a los 30días y al año de seguimiento. Se incluyeron pacientes ≥65años con FF ingresados en la unidad de ortogeriatría entre febrero de 2016 y enero de 2017. La intervención educativa constó de dos actuaciones coordinadas: una educación sanitaria durante la hospitalización y un soporte multimodal durante la transición al domicilio. Resultados: Se incluyeron 67 pacientes (77,6% mujeres; edad 84,19±7,78 años). Regresaron al domicilio el 70,1%, doblando la cifra de los años 2014-2015. Hubo un 8,5% de reingresos a los 30días y al año. Al año, el nivel de dependencia fue cercano al nivel prefractura (Barthel: 86,67±19,31; 94,33±14,66), la movilidad mejoró respecto al alta (Parker: 4,73±1,84; 6,73±2,76; Timed Up and Go test: 38,29±21,27; 21,91±10,97) y el rendimiento cognitivo no empeoró de forma significativa. La percepción de pacientes, cuidadores y profesionales fue que la educación sanitaria mejoró la autonomía del paciente. La satisfacción con el proceso asistencial fue alta. Conclusiones: Este estudio aporta como novedad, a los beneficios ya descritos en los modelos asistenciales ortogeriátricos, el incremento del número de pacientes que regresan al domicilio en condiciones de seguridad


Background and objective: Hip fracture is a common injury among elderly patients. The main goal of our study was to assess the effectiveness of a multidisciplinary educational intervention aimed at hip fracture patients to promote home discharges and reduce in-hospital complications. Material and method: A quasi-experimental study was performed by taking repeated measurements at hospital admission, at hospital discharge, and at both 30days and one year of discharge. Patients aged ≥65years with hip fracture who were admitted to the Orthogeriatric Service between February 2016 and January 2017 were included in the study. The educational intervention consisted in two coordinated actions: patient education administered during their hospitalization and multimodal support provided during their discharge home. Results: A total of 67 patients were included in the study (77.6% of whom were women; 84.19±7,78 years old). Of these, 70.1% were discharged home, which doubles the figures recorded in the 2014-2015 period. The rate of readmission at 30days and one year of the discharge was 8.5%. At the one-year follow-up, the patient's dependence to perform basic activities of daily living was nearer to the pre-fracture level (Barthel: 86.67±19.31; 94.33±14.66), their mobility had improved in comparison with the time of discharge (Parker: 4.73±1.84; 6.73±2.76; Timed Up and Go Test: 38.29±21.27; 21.91±10.97), and their cognitive function had not worsened significantly. The patient education measures improved the patients' autonomy as perceived by the patients, the caregivers, and the healthcare providers. Satisfaction with the healthcare received was high. Conclusions: As a novelty to the already described benefits in orthogeriatric care models, this study would contribute by proving an increase of the number of patients discharged home in a safe condition


Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Resultado del Tratamiento , Comunicación Interdisciplinaria , Fracturas del Fémur/epidemiología , Hospitalización , Educación en Salud , Investigación Interdisciplinaria/educación , Educación del Paciente como Asunto , Autonomía Personal , Calidad de Vida , Recuperación de la Función/fisiología
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