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1.
Gastroenterol. hepatol. (Ed. impr.) ; 44(8): 587-598, Oct. 2021. tab
Artigo em Espanhol | IBECS | ID: ibc-221922

RESUMO

Los pacientes con ciertas enfermedades inflamatorias mediadas inmunológicamente, como la artritis reumatoide (AR) y la enfermedad inflamatoria intestinal (EII), presentan una mayor incidencia y gravedad de enfermedades infecciosas que la población general, asociadas especialmente a los tratamientos inmunosupresores que reciben.Dichos tratamientos actúan sobre el sistema inmunitario a través de diferentes mecanismos, causando diferentes grados de inmunosupresión y un riesgo variable dependiendo de si el patógeno es un virus, una bacteria o un hongo. Este artículo es una revisión de la bibliografía más relevante sobre el tema, seleccionada y debatida por un panel de expertos. El objetivo de este artículo es revisar el riesgo de infecciones en pacientes con EII y AR y las potenciales medidas preventivas.(AU)


Patients with certain immune-mediated inflammatory diseases, such as rheumatoid arthritis (RA) and inflammatory bowel disease (IBD), have an increased risk of severe infectious diseases than the general population, which are mainly associated with the immunosuppressive treatments that they receive.These treatments act on the immune system through different mechanisms, causing different degrees of immunosuppression and a variable risk depending on whether the pathogen is a virus, bacteria or fungus. This article reviews the most relevant literature on the subject, which was selected and discussed by a panel of experts. The aim of this article is to review the risk of infections in patients with IBD and RA, and the potential preventive measures.(AU)


Assuntos
Humanos , Janus Quinases , Doenças Inflamatórias Intestinais/prevenção & controle , Terapia Biológica , Artrite Reumatoide/prevenção & controle , Vacinas , Inibidores de Janus Quinases , Gastroenterologia , Gastroenteropatias , Infecções , Fatores de Risco , Terapia de Imunossupressão
2.
Gastroenterol Hepatol ; 44(8): 587-598, 2021 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33640469

RESUMO

Patients with certain immune-mediated inflammatory diseases, such as rheumatoid arthritis (RA) and inflammatory bowel disease (IBD), have an increased risk of severe infectious diseases than the general population, which are mainly associated with the immunosuppressive treatments that they receive. These treatments act on the immune system through different mechanisms, causing different degrees of immunosuppression and a variable risk depending on whether the pathogen is a virus, bacteria or fungus. This article reviews the most relevant literature on the subject, which was selected and discussed by a panel of experts. The aim of this article is to review the risk of infections in patients with IBD and RA, and the potential preventive measures.


Assuntos
Artrite Reumatoide/terapia , Infecções Bacterianas/prevenção & controle , Terapia Biológica/efeitos adversos , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/terapia , Inibidores de Janus Quinases/efeitos adversos , Viroses/prevenção & controle , Artrite Reumatoide/imunologia , COVID-19/etiologia , Hepatite A/prevenção & controle , Hepatite B/prevenção & controle , Herpes Zoster/prevenção & controle , Humanos , Doenças Inflamatórias Intestinais/imunologia , Influenza Humana/prevenção & controle , Infecções Pneumocócicas/prevenção & controle , Fatores de Risco , Tuberculose Pulmonar/prevenção & controle , Cobertura Vacinal , Vacinas de Produtos Inativados/administração & dosagem
3.
Epilepsia ; 61(2): 216-227, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31876960

RESUMO

OBJECTIVE: To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015. METHODS: We collected information on volumes and types of surgery, pathology, and seizure outcome from 20 recognized epilepsy surgery reference centers in 10 European countries. RESULTS: We analyzed retrospective aggregate data on 1859 operations. The proportion of surgeries significantly increased over time (P < .0001). Engel class I outcome was achieved in 69.3% of children, with no significant improvement between 2008 and 2015. The proportion of histopathological findings consistent with glial scars significantly increased between the ages of 7 and 16 years (P for trend = .0033), whereas that of the remaining pathologies did not vary across ages. A significant increase in unilobar extratemporal surgeries (P for trend = .0047) and a significant decrease in unilobar temporal surgeries (P for trend = .0030) were observed between 2008 and 2015. Conversely, the proportion of multilobar surgeries and unrevealing magnetic resonance imaging cases remained unchanged. Invasive investigations significantly increased, especially stereo-electroencephalography. We found different trends comparing centers starting their activity in the 1990s to those whose programs were developed in the past decade. Multivariate analysis revealed a significant variability of the proportion of the different pathologies and surgical approaches across countries, centers, and age groups between 2008 and 2015. SIGNIFICANCE: Between 2008 and 2015, we observed a significant increase in the volume of pediatric epilepsy surgeries, stability in the proportion of Engel class I outcomes, and a modest increment in complexity of the procedures.


Assuntos
Epilepsia/cirurgia , Neurocirurgia/tendências , Procedimentos Neurocirúrgicos/tendências , Adolescente , Fatores Etários , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/epidemiologia , Epilepsia/patologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Neurocirurgia/estatística & dados numéricos , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Estudos Retrospectivos , Convulsões/epidemiologia , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/cirurgia , Resultado do Tratamento
4.
Reumatol. clín. (Barc.) ; 14(3): 155-159, mayo-jun. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-174100

RESUMO

Objetivo. Estandarizar la evaluación clínica de pacientes con espondiloartritis (EspA) axial y artritis psoriásica (APs). Métodos. Estudio cualitativo que incluyó: 1) grupo nominal (18 expertos); 2) revisión de la literatura sobre variables empleadas en la evaluación de los pacientes con EspA axial o APs, y 3) grupo focal con reumatólogos y otro con pacientes con EspA axial o APs para analizar la evaluación de las EspA en las consultas de reumatología. Los expertos seleccionaron las variables a incluir en el cuadro de actuación con base en su relevancia, factibilidad en consulta y método/s de medición. Resultados. El cuadro de actuación incluye las variables para valorar antecedentes personales, exploración física, actividad y función, pruebas complementarias y tratamientos. Detalla factores de riesgo de progresión radiográfica, factores predictores de respuesta a terapia biológica, e incluye variables de excelencia. Conclusiones. Este cuadro de actuación para pacientes con EspA axial y APs podrá ayudar a homogeneizar la práctica clínica diaria y a mejorar el manejo y el pronóstico de estos pacientes


Objective. To standardize clinical evaluation of patients with axial spondyloarthritis (SpA) and psoriatic arthritis (PsA) using a checklist. Methods. Qualitative study that included: 1) nominal group (18 experts); 2) literature reviews of measures used in the assessment of patients with axial SpA or PsA; and 3) focus groups, one with rheumatologists and another with patients, organized to become familiar with their opinion on medical assistance. Taking this into account, the experts selected the measures to be included in the checklist based on their relevance, feasibility, and the outcome type. Results. The checklist includes measures for the evaluation of personal history, physical examination, activity and function, laboratory tests, imaging studies and treatments. It also defines risk factors of radiographic progression, predictors of the response to biological therapies, and comprises measures of excellence. Conclusions. This checklist for patients with axial SpA and PsA could help standardize daily clinical practice and improve clinical management and patient prognosis


Assuntos
Humanos , Literatura de Revisão como Assunto , Espondilartrite/diagnóstico , Artrite Psoriásica/diagnóstico , Exame Físico/métodos , Fatores de Risco , Prognóstico , Avaliação de Programas e Projetos de Saúde , 25783 , Projetos , Espondilartrite/terapia , Artrite Psoriásica/terapia , Epidemiologia Descritiva , 28599
5.
Reumatol Clin (Engl Ed) ; 14(3): 155-159, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28284772

RESUMO

OBJECTIVE: To standardize clinical evaluation of patients with axial spondyloarthritis (SpA) and psoriatic arthritis (PsA) using a checklist. METHODS: Qualitative study that included: 1) nominal group (18 experts); 2) literature reviews of measures used in the assessment of patients with axial SpA or PsA; and 3) focus groups, one with rheumatologists and another with patients, organized to become familiar with their opinion on medical assistance. Taking this into account, the experts selected the measures to be included in the checklist based on their relevance, feasibility, and the outcome type. RESULTS: The checklist includes measures for the evaluation of personal history, physical examination, activity and function, laboratory tests, imaging studies and treatments. It also defines risk factors of radiographic progression, predictors of the response to biological therapies, and comprises measures of excellence. CONCLUSIONS: This checklist for patients with axial SpA and PsA could help standardize daily clinical practice and improve clinical management and patient prognosis.


Assuntos
Artrite Psoriásica/terapia , Lista de Checagem , Espondilartrite/terapia , Gerenciamento Clínico , Humanos , Prontuários Médicos , Pesquisa Qualitativa , Espanha
7.
Rev Electron ; 38(10)Oct. 2013. tab
Artigo em Espanhol | CUMED | ID: cum-55588

RESUMO

Se realizó un estudio descriptivo de pacientes diagnosticados con el síndrome del túnel del carpo, atendidos en el Policlínico Docente Manuel Piti Fajardo del municipio de Las Tunas, en el período comprendido desde enero hasta diciembre de 2008, con el objetivo de caracterizarlos clínica y epidemiológicamente. La muestra la conformaron 50 pacientes mayores de 14 años, que se caracterizaron según: edad, sexo, antecedentes patológicos personales, factores asociados al desencadenamiento de la sintomatología y síntomas y signos clínicos. Los resultados fueron procesados utilizando la estadística descriptiva mediante el análisis porcentual. Predominaron las pacientes femeninas con el 76por ciento y el grupo de edad de 41 a 50 años (40 por ciento); el antecedente de osteoartrosis fue el más reportado (34 por ciento), mientras que la ocupación de oficinista fue el factor desencadenante de la aparición de los síntomas que más incidió (46 por ciento), cuatro pacientes (8 por ciento) llegaron a consulta con más de seis meses de evolución de los síntomas (AU)


A descriptive study of patients diagnosed with carpal tunnel syndrome was carried out at Manuel Piti Fajardo Teaching Polyclinic of Las Tunas, from January to December, 2008. The study was aimed at describing them clinically and epidemiologically. The sample was made up of 50 patients older than 14 years old, who were characterized according to: age, sex, individual pathological antecedents factors associated to the triggering of their symptomatology, as well as clinical signs and symptoms. The results were processed using the descriptive statistics by means of percentage analysis. The prevailing results were: female patients, for a 76 per cent; 41 to 50 age group, for a 40 per cent; antecedents of osteoarthrosis, for a 34 per cent. The factor which triggered the onset of the symptoms was the occupation of office worker, for a 46 per cent, while 4 patients (8 per cent) came to the consultation office with more than 6 months of symptom evolution (AU)


Assuntos
Humanos , Acupuntura , Síndrome do Túnel Carpal/terapia
8.
Childs Nerv Syst ; 29(3): 475-88, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23114926

RESUMO

PURPOSE: The aim of this study is to describe a series of pediatric hemispherectomies, reviewing pathologic substrate, epilepsy characteristics and seizure outcome as well as developmental profiles, before and after surgery, in different domains. METHODS: Seventeen patients with full pre-surgical work-up, minimum follow-up of 12 months, and at least one post-surgical neuropsychological evaluation were selected. Three had Rasmussen encephalitis (RE), five hemispheric malformations of cortical development (MCD), and nine hemispheric vascular lesions. RESULTS: At latest follow-up, all patients with RE and 66.7 % of those with vascular lesions are in Engel's class I; in the latter group, pre-surgical independent contralateral EEG discharges statistically correlated with a worse seizure outcome. Patients with MCD showed the worst seizure outcome. Pre-surgical language transfer to the right hemisphere was confirmed in a boy with left RE, operated on at 6 years of age. Patients with MCD and vascular lesions already showed severe global developmental delay before surgery, which persists afterwards. A linear correlation was found between earlier age at surgery and better outcome in personal-social, gross motor, and adaptive domains, in the vascular lesions group. The case with highest cognitive improvement had continuous spike and wave during sleep on pre-surgical EEG. CONCLUSIONS: Pathologic substrate was the main factor related with seizure outcome. In children with MCD and vascular lesions, although developmental progression is apparent, significant post-surgical improvements are restricted by the severity of pre-surgical neuropsychological disturbances and a slow maturation. Early surgery assessment is recommended to enhance the possibilities for a better quality of life in terms of seizure control, as well as better autonomy and socialization.


Assuntos
Cérebro/crescimento & desenvolvimento , Epilepsia/cirurgia , Hemisferectomia , Convulsões/cirurgia , Adaptação Fisiológica , Adolescente , Fatores Etários , Cérebro/patologia , Criança , Desenvolvimento Infantil , Pré-Escolar , Epilepsia/patologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Plasticidade Neuronal , Testes Neuropsicológicos , Recuperação de Função Fisiológica , Convulsões/patologia , Resultado do Tratamento
9.
Clin Exp Rheumatol ; 30(6): 830-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23020889

RESUMO

OBJECTIVES: The goal of this study was to investigate the usefulness of a short ultrasound (US) assessment in gout. METHODS: Patients with gout, confirmed by urate crystal identification, and having at least one symptomatic flare in the last three months were included. Standardised US examinations of sixteen joints and eight tendons in the lower limbs were carried out. Six lesions were studied: hyperechoic spots in the synovial fluid, hyperechoic cloudy areas (HCA), bright stippled aggregates (BSA), the double contour sign (DCS), erosions and the Doppler signal. For reliability, inter-reader analyses were performed by five rheumatologists. With the results, a short US assessment was created. RESULTS: Twenty-nine consecutive patients were included (93% men). The Doppler signal, HCAs and BSAs appeared in 100%, 97% and 93% of the patients, respectively. The DCS was found in 69% of patients. The locations that were most affected were the first metatarsophalangeal joint (MTP) and the knee joints, both of which are in 93% of patients. Reliability analyses showed consistent results for erosions, the Doppler signal, HCAs and the DCS in the 1st MTP (k=0.818, k=0.958, k=0.739 and k= 0.697, respectively) and for the DCS in the knees (k=0.779). A six-minute US examination of four joints (knees and the 1st MTPs) detected HCAs or DCS in 97% of cases. CONCLUSIONS: A US examination of four joints for two elemental lesions (the DCS and HCAs) is feasible, reliable and has face and content validity as a diagnostic test in patients with crystal-proven gout.


Assuntos
Gota/diagnóstico por imagem , Articulação do Joelho/diagnóstico por imagem , Articulação Metatarsofalângica/diagnóstico por imagem , Ultrassonografia Doppler , Adulto , Idoso , Estudos de Viabilidade , Feminino , Gota/patologia , Humanos , Articulação do Joelho/patologia , Masculino , Articulação Metatarsofalângica/patologia , Pessoa de Meia-Idade , Variações Dependentes do Observador , Projetos Piloto , Valor Preditivo dos Testes , Reprodutibilidade dos Testes
10.
Clin Exp Rheumatol ; 30(1 Suppl 70): S34-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22410311

RESUMO

OBJECTIVES: To explore the sensitivity to change of colour Doppler ultrasound (CDUS) in giant cell arteritis (GCA). METHODS: This was a blind, prospective study composed of 30 consecutive patients diagnosed with GCA. In 25 of the cases this was their first episode of GCA, and 13 of the cases were relapses. All participants had presented with at least 1 branch involvement in the basal sonography, and steroid treatment had been initiated. A CDUS was performed every 2 weeks during the first month, and every 4 weeks thereafter, until halo disappearance was observed in the bilateral parietal and frontal branches of the temporal superficial artery. RESULTS: Thirty-eight episodes of GCA in 30 different patients (19 women and 11 men; mean age, 79.24±4.76 years; range 70-88) were followed. Dark halo disappearance occurred in 95% of cases. The mean time until halo disappearance was observed was around 11 weeks, with 50% of cases showing halo disappearance within the first 8 weeks. The relapse cases appeared to have less arterial wall affectation than the primary GCA cases, reduced erythrocyte sedimentation rate ESR and an earlier loss of the halo sign. Patients with a smaller number of affected branches required less time for halo disappearance. CONCLUSIONS: CDUS shows a sensitività to change in GCA. Halo disappearance is rare before two weeks, and it frequently persists during the first two months after initiating steroid therapy. Our data emphasise the advantages of using CDUS to monitor GCA activity.


Assuntos
Arterite de Células Gigantes/diagnóstico por imagem , Artérias Temporais/diagnóstico por imagem , Ultrassonografia Doppler em Cores , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Feminino , Arterite de Células Gigantes/tratamento farmacológico , Humanos , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Recidiva , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Esteroides/uso terapêutico , Fatores de Tempo , Resultado do Tratamento
12.
Acta Reumatol Port ; 37(3): 212-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23348109

RESUMO

Enthesitis is the hallmark of spondyloarthritis and is observed in all subtypes. Namely, a wide information on spondyloarthritis abnormalities, including synovitis, bursitis, tendinitis, enthesitis and cortical bone abnormalities (erosions and enthesophytes), can be efficiently perceived by ultrasound power Doppler. Furthermore, several studies on imaging of enthesis showed that imaging techniques are better than clinical examination to detect pathology at asymptomatic enthesis. Vascularized enthesitis detected by ultrasound power Doppler appears to be a valuable diagnostic tool to confirm spondyloarthritis diagnosis. This article focuses on the validity and reliability of ultrasound enthesitis assessment in the management of spondyloarthritis patients.


Assuntos
Espondilartrite/diagnóstico por imagem , Ultrassonografia Doppler , Humanos , Reprodutibilidade dos Testes
13.
Ann Rheum Dis ; 70(11): 2008-10, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21873690

RESUMO

OBJECTIVE: To evaluate the ability of ultrasound (US) to detect the presence and change of Achilles erosions in spondyloarthritis (SpA). METHODS: A blind prospective two-dimensional (2D) and three-dimensional (3D) US study of Achilles enthesis erosions in early SpA was undertaken. US examinations were performed at baseline and at 6 and 12 months of follow-up. Clinical outcomes measures were collected. RESULTS: Bilateral Achilles entheses of 68 patients (35 women) were investigated. The mean Bath Ankylosing Spondylitis Disease Activity Index and C reactive protein (CRP) levels were 4.58 ± 2.05 and 5.97 ± 9.91 mg/l, respectively. The κ values for intrareader agreement for 2D and 3D images were 0.84 and 0.85 for two readers. 2D US visualised 10 erosions (7.4%) and 3D US visualised 13 erosions (9.6%) in 10 patients (14.7%). At 6 and 12 months of follow-up, 25% and 50% of basal erosions had disappeared, respectively and, of the new erosions that appeared at 6 months, 40% had disappeared 6 months later. A statistically significant association between erosion and CRP levels, entheseal Doppler signals and the number of tender and swollen joints was found. CONCLUSIONS: US examination of Achilles erosions is reliable and sensitive to change. An association was found between Achilles erosions and objective activity-based measurements of SpA outcomes.


Assuntos
Tendão do Calcâneo/diagnóstico por imagem , Espondilartrite/complicações , Tendinopatia/etiologia , Adolescente , Adulto , Biomarcadores/sangue , Sedimentação Sanguínea , Proteína C-Reativa/metabolismo , Métodos Epidemiológicos , Feminino , Humanos , Imageamento Tridimensional/métodos , Masculino , Pessoa de Meia-Idade , Prognóstico , Tendinopatia/diagnóstico por imagem , Ultrassonografia , Adulto Jovem
14.
Seizure ; 20(8): 616-27, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21741275

RESUMO

We report our experience regarding evaluation, surgical treatment and outcomes in a population of 21 children with histopathologically confirmed developmental tumours [nine dysembryoplastic neuroepithelial tumours (DNET), ten gangliogliomas (GG) and two gangliocytomas (GC)] and related epilepsy, analyzing video-EEG, MRI and neuropsychological data, before and after surgery. Most children had focal epilepsy correlating well with lesion location. One patient had epileptic spasms and generalized discharges. Tumours were located in the temporal lobe in 13 patients. Mean age at surgery was 11.16 years. Postsurgical MRI showed residual tumour growth in one DNET. One child had a recurrent ganglioglioma with anaplastic transformation. At latest follow-up (mean 4.68 years) 95.2% of patients were seizure-free and no significant neuropsychological declines were observed. Evidence from our study suggests that, in this setting, surgery should be performed before criteria for refractory epilepsy are met, particularly in cases with early seizure onset, in order to optimize cognitive outcome.


Assuntos
Epilepsia/cirurgia , Ganglioglioma/cirurgia , Ganglioneuroma/cirurgia , Neoplasias Neuroepiteliomatosas/cirurgia , Adolescente , Criança , Pré-Escolar , Epilepsia/patologia , Feminino , Seguimentos , Ganglioglioma/patologia , Ganglioneuroma/patologia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Adulto Jovem
15.
Rev Neurol ; 52(12): 705-12, 2011 Jun 16.
Artigo em Espanhol | MEDLINE | ID: mdl-21594855

RESUMO

INTRODUCTION: Panayiotopoulos syndrome (PS) is one of the benign epilepsies found in childhood. Some papers have shown that patients can present behavioural disorders and learning difficulties. AIMS: To review patients diagnosed with PS in our hospital and to check whether they display evidence of such disorders and if there is any specific feature that allows high-risk patients to be identified. PATIENTS AND METHODS: A retrospective review of the medical records of patients diagnosed with PS was carried out. An electroencephalogram (EEG) or video-EEG-polygraph recordings were performed on all patients during sleep. The Weschler Intelligence Scale for Children was used to evaluate intelligence. RESULTS: Data were collected for 33 patients, 17 of whom were children. The mean age at onset was 3.2 years and the follow-up was 4.9 years (range: 1-12 years). Irritative EEG phenomena were detected in the occipital (67.7%), temporal (45.2%) or parietal regions (22.5%) in 31 patients. Furthermore, 72.7% of patients presented more than two seizures. Twenty-three patients required treatment with antiepileptic drugs. Two patients were diagnosed with attention deficit hyperactivity disorder. Additionally, 30.3% reported dispersed attention and 27.3% had an impulsive character. It was found that 51.1% had a good level of academic achievement, in 26.5% it was regular and in 17.6% poor. A total of 39.4% needed assistance in the form of after-school classes. The level of intelligence was evaluated in 11 patients. CONCLUSION: PS is a condition with a good prognosis, but seems to be associated to learning and behavioural disorders.


Assuntos
Transtornos do Comportamento Infantil/etiologia , Epilepsias Parciais/complicações , Epilepsias Parciais/fisiopatologia , Deficiências da Aprendizagem/etiologia , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Humanos , Lactente , Inteligência , Testes de Inteligência , Masculino , Prognóstico , Estudos Retrospectivos , Sono/fisiologia , Síndrome
16.
Ann Rheum Dis ; 70(3): 434-9, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21131646

RESUMO

OBJECTIVE: To determine the sensitivity and specificity of enthesis ultrasound for the diagnostic classification of early spondyloarthritis. METHODS: A cross-sectional, blinded and controlled study. Standardised bilateral ultrasound of six entheses (Madrid sonography enthesitis index (MASEI)) was performed. Accepted diagnostic classification criteria were used as the gold standard. Validity was analysed by receiver operating characteristic (ROC) curves. Values of p<0.05 were considered significant. RESULTS: 113 early spondyloarthritis patients were included (58 women/55 men), 57 non-inflammatory control individuals (29 women/28 men) and 24 inflammatory control individuals (11 women/13 men). The evolution time of spondyloarthritis was 10.9±7.1 months. At least some grade of sacroiliitis on x-ray was present in 59 patients, but only five fulfilled the radiographic sacroiliitis New York criteria. Human leucocyte antigen B27 (HLA-B27) was positive in 42% of patients. No statistical differences were found for the enthesis score among diagnostic spondyloarthritis subtypes form of presentation (axial, peripheral or mixed) or HLA-B27 positivity. The MASEI score achieved statistical significance for gender. The ultrasound score was 23.36±11.40 (mean±SD) in spondyloarthritis patients and 12.26±6.85 and 16.04±9.94 in the non-inflammatory and inflammatory control groups (p<0.001), respectively. The ROC area under the curve was 0.82, and a cut-off point of ≥20 points achieved a likelihood ratio of 5.30 and a specificity of 89.47%. CONCLUSIONS: Entheses are affected early in spondyloarthritis, and the incidence of involvement is higher in men and independent of the spondyloarthritis diagnostic subtype, HLA-B27 status or presentation pattern. The enthesis ultrasound score seems to have diagnostic accuracy and may be useful for improving the diagnostic accuracy of early spondyloarthritis.


Assuntos
Espondilartrite/diagnóstico por imagem , Tendão do Calcâneo/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Diagnóstico Precoce , Métodos Epidemiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ligamento Patelar/diagnóstico por imagem , Tendões/diagnóstico por imagem , Ultrassonografia Doppler/métodos
17.
Rev. neurol. (Ed. impr.) ; 50(supl.3): s49-s57, 3 mar., 2010. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-86877

RESUMO

Introducción. La evaluación neuropsicológica está incorporada a los protocolos de valoración de un paciente candidato a cirugía de la epilepsia, proporciona información de las disfunciones cognitivas presentes en cada paciente, permite predecir los posibles riesgos cognitivos de la cirugía y proporciona medidas objetivas de cambio postquirúrgico. Las alteraciones neuropsicológicas son una importante comorbilidad de la epilepsia resistente a los fármacos. Su aparición precoz en la infancia puede determinar que las disfunciones cognitivas con las que cursa puedan ser atípicas con respecto a los principios de localización cerebral, debido a procesos de plasticidad y reorganización del cerebro inmaduro; el análisis de los perfiles neuropsicológicos con los que cursan las epilepsias focales pediátricas es mucho más complejo que en adultos. Desarrollo y conclusiones. En el presente trabajo se revisan las alteraciones neuropsicológicas que acompañan a las epilepsias focales de córtex posterior, temporales y frontales, señalando la escasez de trabajos publicados a pesar de que la evaluación neuropsicológica forma parte indispensable de la evaluación prequirúrgica (AU)


Introduction. Neuropsychological assessment is included in the protocols for evaluation of epilepsy surgery candidates, providing information about the patient’s cognitive dysfunctions, allowing for prediction of possible cognitive deficits derived from surgery and yielding objective measures of any post-surgical changes. Neuropsychological disturbances constitute an important co-morbidity of medically intractable epilepsy. An early epilepsy onset in infancy may lead to cognitive dysfunctions that are atypical in terms of brain localization, due to the inherent plasticity and reorganization processes of the immature brain. The analysis of the neuropsychological profiles of paediatric focal epilepsies is much more complex than in the adult population. Development and conclusions. In this paper, we review the neuropsychological disturbances associated to focal epilepsies (posterior cortex, temporal and frontal epilepsies), stressing the point that there is a considerable lack of rigorous studies on the topic in the literature, in spite of this being an essential part of the presurgical work-up in epilepsy patients (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Testes Neuropsicológicos , Epilepsias Parciais/cirurgia , Transtornos Cognitivos/diagnóstico , Cuidados Pré-Operatórios , Complicações Pós-Operatórias , Epilepsia do Lobo Frontal/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Plasticidade Neuronal , Eletroencefalografia
18.
Arthritis Rheum ; 62(4): 1158-66, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20131270

RESUMO

OBJECTIVE: Chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID), is a severe, early-onset autoinflammatory disease characterized by an urticaria-like rash, arthritis/arthropathy, variable neurologic involvement, and dysmorphic features, which usually respond to interleukin-1 blockade. CINCA/NOMID has been associated with dominant Mendelian inherited NLRP3 mutations. However, conventional sequencing analyses detect true disease-causing mutations in only approximately 55-60% of patients, which suggests the presence of genetic heterogeneity. We undertook the current study to assess the presence of somatic, nongermline NLRP3 mutations in a sporadic case of CINCA/NOMID. METHODS: Clinical data, laboratory results, and information on treatment outcomes were gathered through direct interviews. Exhaustive genetic studies, including Sanger method sequencing, subcloning, restriction fragment length polymorphism assay, and pyrosequencing, were performed. RESULTS: The patient's CINCA/NOMID was diagnosed based on clinical features (early onset of the disease, urticaria-like rash, knee arthropathy, and dysmorphic features). The patient has exhibited a successful response to anakinra within the last 28 months. Analysis of NLRP3 identified a novel heterozygous variant (p.D303H) that was detected in approximately 30-38% of circulating leukocytes. The absence of this variant in healthy controls and in the patient's parents suggested a de novo true disease-causing mutation. Additional analyses showed that this novel mutation was present in both leukocyte subpopulations and epithelial cells. CONCLUSION: Our findings identify the novel p.D303H NLRP3 variant in a Spanish patient with CINCA/NOMID as a new disease-causing mutation, which was detected as a somatic, nongermline mutation in hematopoietic and nonhematopoietic cell lineages. Our data provide new insight into the role of low-level mosaicism in NLRP3 as the pathophysiologic mechanism underlying cryopyrin-associated periodic syndrome.


Assuntos
Proteínas de Transporte/genética , Síndromes Periódicas Associadas à Criopirina/genética , Doenças do Recém-Nascido/genética , Mosaicismo , Polimorfismo de Nucleotídeo Único , Síndromes Periódicas Associadas à Criopirina/patologia , Síndromes Periódicas Associadas à Criopirina/fisiopatologia , DNA/sangue , DNA/genética , DNA/isolamento & purificação , Análise Mutacional de DNA , Primers do DNA , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/patologia , Doenças do Recém-Nascido/fisiopatologia , Leucócitos/patologia , Leucócitos/fisiologia , Mutação , Proteína 3 que Contém Domínio de Pirina da Família NLR , Plasmídeos , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Mapeamento por Restrição , Urticária/genética
19.
Rheumatology (Oxford) ; 49(4): 683-90, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20047979

RESUMO

OBJECTIVE: To investigate the accuracy of composite scores in classifying RA patients who are in remission using the absence of inflammatory activity detected by ultrasound (US) as a gold standard. METHODS: Ninety-seven RA patients who were classified by their rheumatologists as being in remission were studied. Disease activity was assessed by the DAS-28 and simplified disease activity index (SDAI). US examination was performed in mode B and power Doppler (PD) in 42 joints. RESULTS: Synovial hypertrophy (SH) and PD were present in 92 (94.8%) and 41 (42.3%) patients. If we consider 'remission' to be the absence of joints with PD signal, no differences were found by DAS-28 between patients in remission and those not in remission, although differences were present by SDAI. We then calculated the sensitivity (S), specificity (Sp) and positive likelihood ratio (LR) of different SDAI cut-off points to predict absence of PD signal. SDAI < 5 had an S of 65% (95% CI 52, 76), Sp of 55% (95% CI 39, 69) and LR of 1.45 (95% CI 0.98, 2.15), whereas SDAI < 3.3 had an S of 57% (95% CI 44, 69), Sp of 74% (95% CI 58, 85) and LR of 2.24 (95% CI 1.25, 4.01). CONCLUSIONS: Our results suggest that the SDAI classification of remission is closer to the concept of an absence of inflammatory activity, as defined by the absence of positive PD signal by US.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Reumatoide/diagnóstico por imagem , Ultrassonografia Doppler/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/patologia , Estudos de Casos e Controles , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Indução de Remissão , Índice de Gravidade de Doença , Estatística como Assunto , Resultado do Tratamento , Ultrassonografia Doppler/normas , Adulto Jovem
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