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1.
Med. clín (Ed. impr.) ; 146(1): 1-7, ene. 2016. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-147352

RESUMO

Fundamento y objetivo: La hipertensión arterial pulmonar (HAP) es causa importante de morbimortalidad en la esclerosis sistémica (ES). Su evolución es peor que en la HAP idiopática, pero el pronóstico mejora si se diagnostica precozmente. El objetivo de este trabajo es describir el resultado de un programa de cribado para el diagnóstico de hipertensión pulmonar (HP) desarrollado en una cohorte de pacientes españoles con ES. Pacientes y método: Se realizó cribado de HP mediante ecocardiografía-doppler transtorácica (EDTT) en 184 pacientes con ES. Los pacientes con valor de presión arterial pulmonar sistólica estimada por EDTT > 35 mmHg se evaluaron de forma protocolizada para establecer o no el diagnóstico de certeza de HP y su tipo. Resultados: Se diagnosticó HAP en 25 pacientes (13,6%). Los pacientes con ES difusa y limitada desarrollaron HAP en proporciones semejantes: 9 de 60 (15%) frente a 16 de 100 (16%). No se registraron casos entre pacientes con ES «sine esclerodermia» o «preesclerodermia» (p < 0,001). Los únicos datos clinicoepidemiológicos que caracterizaron a los pacientes con HAP fueron una edad más avanzada (edad media de 67 años para pacientes con HAP frente a 56 años sin HAP, p = 0,007), especialmente relacionada con la ES limitada, y una tendencia hacia un menor tiempo de evolución de la enfermedad de base (mediana de 8 años para pacientes con HAP frente a 10 años sin HAP, p = 0,73) y una mayor frecuencia de positividad para anticuerpos anticentrómero: 16 (64%) pacientes con HAP frente a 70 (48,3%) sin HAP (p = 0,19). Conclusiones: La prevalencia de HAP en ES resultó elevada y apoya la implantación de programas de cribado sistemático (AU)


Background and objective: Pulmonary arterial hypertension (PAH) is an important cause of morbimortality in systemic sclerosis (SSc). Evolution is worse than that of subjects with idiopathic PAH, but prognosis improves when PAH is diagnosed early. The aim of this research is to describe results of a screening program for diagnosis of pulmonary hypertension (PH) carried out in a cohort of Spanish patients with SSc. Patients and method: PH screening was performed by transthoracic doppler echocardiography (TTDE) in 184 patients with SSc. Patients with systolic pulmonary arterial pressure estimated by TTDE > 35 mmHg were evaluated per protocol to confirm diagnosis and type of PH. Results: PAH was diagnosed in 25 patients (13.6%). Patients with diffuse and limited SSc developed PAH in a similar degree, 9/60 (15%) vs. 16/100 (16%), with no cases among patients with SSc 'sine scleroderma' or 'pre-scleroderma' (P < .001). The only clinical or epidemiological data characterizing patients with PAH were older age (mean age 67 years for patients with PAH vs. 56 years for those without PAH, P = .007), limited SSc, a trend toward shorter evolution of the underlying disease (median 8 years for patients with PAH vs. 10 years for those without PAH, P = .73), and a higher frequency of positive anticentromere antibodies (16 patients [64%] with PAH vs. 70 (48,3%) without PAH, P = .19). Conclusions: Prevalence of PAH in SSc was high and supports the implementation of a regular screening program (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/epidemiologia , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/epidemiologia , Diagnóstico Precoce , Hipertensão Pulmonar/mortalidade , Programas de Rastreamento/métodos , Estudos de Coortes , Indicadores de Morbimortalidade , Radiografia Torácica/métodos
2.
Med Clin (Barc) ; 146(1): 1-7, 2016 Jan 01.
Artigo em Espanhol | MEDLINE | ID: mdl-26169331

RESUMO

BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is an important cause of morbimortality in systemic sclerosis (SSc). Evolution is worse than that of subjects with idiopathic PAH, but prognosis improves when PAH is diagnosed early. The aim of this research is to describe results of a screening program for diagnosis of pulmonary hypertension (PH) carried out in a cohort of Spanish patients with SSc. PATIENTS AND METHOD: PH screening was performed by transthoracic doppler echocardiography (TTDE) in 184 patients with SSc. Patients with systolic pulmonary arterial pressure estimated by TTDE>35 mmHg were evaluated per protocol to confirm diagnosis and type of PH. RESULTS: PAH was diagnosed in 25 patients (13.6%). Patients with diffuse and limited SSc developed PAH in a similar degree, 9/60 (15%) vs. 16/100 (16%), with no cases among patients with SSc "sine scleroderma" or "pre-scleroderma" (P<.001). The only clinical or epidemiological data characterizing patients with PAH were older age (mean age 67 years for patients with PAH vs. 56 years for those without PAH, P=.007), limited SSc, a trend toward shorter evolution of the underlying disease (median 8 years for patients with PAH vs. 10 years for those without PAH, P=.73), and a higher frequency of positive anticentromere antibodies (16 patients [64%] with PAH vs. 70 (48,3%) without PAH, P=.19). CONCLUSIONS: Prevalence of PAH in SSc was high and supports the implementation of a regular screening program.


Assuntos
Ecocardiografia Doppler , Hipertensão Pulmonar/diagnóstico por imagem , Programas de Rastreamento , Escleroderma Sistêmico/complicações , Adulto , Idoso , Feminino , Humanos , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/etiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Espanha
3.
Clin Rheumatol ; 33(4): 567-73, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24096638

RESUMO

Internet has become a widely used tool by patients seeking information on different diseases. The information regarding lupus patients' Internet use is scarce. This study aims to explore the attitudes and practices of lupus patients in southern Spain, regarding Internet use to find health-related information. A survey was carried out including 150 patients from six Andalusian Hospitals. To search for information, 67.3 % of the patients used Internet. The proportion of female Internet users was higher (69.3 vs 46.2 %), particularly those belonging to a patients' association (81.8 vs 32.7 %), and are regular users of Internet (80.2 vs 44.4 %); 37.5 % thought the information found in the Internet was of little use or not useful at all, and 58 % of the respondents stated that the information found caused them concern while for 27 %, it was a relief. Most patients preferred the information given by their physicians (63.6 %); 33.9 % considered that the information from both sources was complementary, and 2.5 % preferred the information obtained from the Internet. A percentage of 85.3 of the patients would like their physicians to provide them with information on high-quality sites regarding their illness. Lupus patients make frequent use of the Internet to look for information on their disease. Considering this, and because better-informed patients follow more precisely the indications given by the physician, medical staff should collaborate in the development of high-quality sites for the patient to have additional sources of information.


Assuntos
Comportamento de Busca de Informação , Internet , Lúpus Eritematoso Sistêmico , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distribuição por Sexo , Espanha , Inquéritos e Questionários
4.
DNA Cell Biol ; 31(12): 1671-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23075294

RESUMO

Rituximab is being used as treatment for systemic autoimmune diseases. The objective of this study was to determine whether the genetic variant in the Fc gamma-receptor III a (FCGR3A) gene, 158F/V, contributes to the observed variation in response to rituximab in patients with systemic autoimmune diseases. DNA samples from 132 Spanish patients with different systemic autoimmune diseases receiving rituximab were genotyped for FCGR3A-158F/V (rs396991) gene polymorphism using the TaqMan(®) allelic discrimination technology. Six months after infusion with rituximab we evaluated the response to the drug: 61% of the patients showed a complete response, partial 27% and 12% did not respond to the treatment. A statistically significant difference was observed in V allele frequency between responder (38%) and nonresponder (16%) patients (p=0.01; odds ratio [OR]=3.24, 95% confidence interval [CI] 1.17-11.1). Rituximab was also more effective in V allele carriers (94%) than in homozygous FF patients (81%): p=0.02; OR=3.96, 95% CI 1.10-17.68. These results suggest that FCGR3A-158F/V (rs396991) gene polymorphism play a role in the response to rituximab in autoimmune diseases. Validation of these findings in independent cohorts is warranted.


Assuntos
Anticorpos Monoclonais Murinos/uso terapêutico , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/genética , Polimorfismo de Nucleotídeo Único , Receptores de IgG/genética , Alelos , Estudos de Coortes , Grupo com Ancestrais do Continente Europeu , Feminino , Frequência do Gene , Homozigoto , Humanos , Infusões Intravenosas , Masculino , Receptores de IgG/metabolismo , Rituximab
5.
DNA Cell Biol ; 31(9): 1486-91, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22734797

RESUMO

Rituximab has become a pivotal treatment for systemic autoimmune diseases. The aim of this study was to determine whether the genetic variant -174 IL-6 contributes to differences in the response to rituximab in patients with systemic autoimmune diseases, including systemic lupus erythematosus (SLE), inflammatory myopathies, anti-neutrophil cytoplasmic antibody-mediated vasculitis, systemic sclerosis, Sjöegren's syndrome, rheumatoid arthritis, and autoimmune hemolytic anemia. DNA samples from 144 Spanish patients with different systemic autoimmune diseases receiving rituximab were genotyped for -174 IL-6 (rs1800795) gene polymorphism using the TaqMan(®) allelic discrimination technology. Six months after the first infusion with rituximab, we evaluated the response to the drug: 60.4% of the patients showed a complete response, partial 27.8%, and 11.8% did not respond to the treatment. The CC genotype frequency was significantly increased in nonresponders with respect to responders (23.5% vs. 7.1%, respectively; p=0.049; odds ratio (OR)=4.03, 95% confidence intervals (CI) 0.78-16.97). According to the genotype distribution, rituximab was effective in 69.2% of the CC carriers, 91.9% of the CG carriers, and 88.4% of the GG carriers. A similar trend was observed when SLE patients were analyzed separately (27.3% carried CC homozygosis in nonresponders and 6.9% in responders; p=0.066; OR=5.10, 95% CI 0.65-31.73). Rituximab was effective in 62.5% of the CC carriers, 88.9% of the GC carriers, and 90% of the GG carriers. These results suggest that -174 IL-6 (rs1800795) gene polymorphism plays a role in the response to rituximab in systemic autoimmune diseases. Validation of these findings in independent cohorts is warranted.


Assuntos
Anticorpos Monoclonais Murinos/uso terapêutico , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/genética , Interleucina-6/genética , Polimorfismo de Nucleotídeo Único , Feminino , Frequência do Gene/genética , Humanos , Masculino , Rituximab , Resultado do Tratamento
7.
Semin Arthritis Rheum ; 41(6): 789-800, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22169458

RESUMO

OBJECTIVE: To investigate the incidence of clinical and immunological characteristics of a large cohort of Spanish patients with scleroderma (SSc) and identifying factors associated with particular organ manifestations assessed by a nationwide cross-sectional analysis. METHODS: We classified SSc patients in 4 subsets using a modification of LeRoy and Medsger classification that included: "prescleroderma" (pre-SSc), limited cutaneous SSc (lcSSc), diffuse cutaneous SSc (dcSSc), and SSc sine scleroderma (ssSSc). Fourteen Spanish centers participated in patient recruitment. On January 2008, the database included 916 consecutive Spanish SSc patients, 801 women (87.4%) and 115 men (12.6%), all of whom fulfilled the classification criteria proposed by LeRoy and Medsger. Epidemiological, clinical, and laboratory data were collected according to a standard protocol. Mean age at diagnosis was 51.2 ± 15.1 years and mean age at disease onset was 44.9.0 ± 15.8 years. lcSSc was the most frequent subset (61.8%) followed by dcSSc (26.5%), ssSSc (7.5%), and preSSc (4%) subsets. Gender ratios were as follows: dcSSc subset, 200 women and 43 men (4.7:1); lcSSc subset, 503 women and 63 men (ratio 7.9:1), and ssSSc subset, 62 women and 7 men (ratio 8.9:1). Digital ulcers, interstitial lung disease (ILD), musculoeskeletal and esophageal involvement, and scleroderma renal crisis were more frequent in dcSSc than lcSSc and ssSSc subsets. The incidence of pulmonary arterial hypertension assessed by echocardiography was similar in all subsets but mean estimated systolic pulmonary arterial pressure was higher in ssSSc than in lcSSc subset (47.3 ± 23.9 mm Hg vs 39.6 ± 19.2 mm Hg; P < 0.03). Cardiac involvement was identified more frequently in ssSSc than in dcSSc and lcSSc subsets (49.3% vs 32.5% and 31.1%, respectively; P = 0.015 and P = 0.004 for both comparisons). Acro-osteolysis (8.2% vs 2.4%, P = 0.049), calcinosis (19.8% vs 7.2%, P < 0.05), and sicca syndrome (37.5% vs 14.5%, P < 0.0001) were more frequent in lcSSc than in ssSSc subsets. The frequency of clinical manifestations related to the presence of anticentromere antibodies or antitopoisomerase I antibodies was very similar to that identified in patients categorized to lcSSc and dcSSc, respectively. However, in multivariate studies, the ranking of the variables according to their overall explanatory effect on the model showed that the contributory effect of the antibody status was not greater than that of the clinical categorization into lcSSc and dcSSc for the majority of disease manifestations, but, in important manifestations, as ILD, absence of anticentromere antibodies was an independent predictor factor. CONCLUSIONS: The classification of SSc into dcSSc, lcSSc, and ssSSc subsets is the one that most closely reflects the natural history of the disease, as they presented clear clinical differences. The immunological profile helps to define important visceral alteration as ILD. Finally, to improve early diagnosis of SSc, patients with preSSc should be considered both to trace the true evolution of the disease and to define which patients could benefit from therapeutic measures able to prevent the appearance of visceral involvements.


Assuntos
Escleroderma Sistêmico/diagnóstico , Escleroderma Sistêmico/epidemiologia , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Incidência , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/diagnóstico , Masculino , Pessoa de Meia-Idade , Fibrose Pulmonar/complicações , Fibrose Pulmonar/diagnóstico , Sistema de Registros , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/imunologia , Espanha/epidemiologia
9.
Hum Immunol ; 73(1): 107-10, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22064183

RESUMO

The red cell acid phosphatase (ACP1) gene, which encodes a low-molecular-weight phosphotyrosine phosphatase, has been suggested as a common genetic factor of autoimmunity. In the present study, we aim to investigate the possible association of ACP1 with the susceptibility of systemic lupus erythematosus (SLE). A total of 1,546 SLE patients and 1,947 healthy individuals from 4 Caucasians populations were included in the present study. Four single-nucleotide polymorphisms (SNPs) were genotyped in this study: rs10167992, rs11553742, rs7576247, and rs3828329. ACP1*A, ACP1*B, and ACP1*C codominant ACP1 alleles were determined using 2 of the SNPs and analyzed. After the meta-analysis test was performed, a significant association of rs11553742*T was observed (p(pooled) = 0.005, odds ratios = 1.37 [1.10-1.70]), retaining significance after multiple testing was applied (p(FDR) = 0.019). Our data indicate for first time the association of rs11553742*T with increased susceptibility in SLE patients.


Assuntos
Predisposição Genética para Doença/genética , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único , Proteínas Tirosina Fosfatases/genética , Proteínas Proto-Oncogênicas/genética , Alelos , Argentina , Estudos de Coortes , Grupo com Ancestrais do Continente Europeu/genética , Frequência do Gene , Genótipo , Alemanha , Haplótipos , Humanos , Itália , Desequilíbrio de Ligação , Lúpus Eritematoso Sistêmico/etnologia , Razão de Chances , Espanha
12.
Arch. bronconeumol. (Ed. impr.) ; 47(supl.7): 21-25, nov. 2011.
Artigo em Espanhol | IBECS | ID: ibc-147690

RESUMO

Se entiende como marcador biológico cualquier característica que puede ser objetivamente medida y evaluada como indicadora de un proceso biológico normal, un proceso patogénico o una respuesta farmacológica a una intervención terapéutica. En el terreno de la hipertensión arterial pulmonar (HAP), además de los marcadores habituales (hemodinámicos y funcionales), se cuenta con un número creciente de biomarcadores que permiten un acercamiento cada vez más completo al conocimiento de la susceptibilidad y al establecimiento del diagnóstico, pronóstico y respuesta al tratamiento. Estos marcadores pueden ser tanto constitutivos (genéticos) como reactivos a la enfermedad (relacionados con el fallo ventricular derecho, como BMP/NT-proBNP, con la disfunción endotelial, como la endotelina-1, o con la inflamación, como determinadas citocinas y quimiocinas). Los nuevos descubrimientos en genómica y proteómica permiten augurar avances fundamentales en este campo (AU)


A biological marker can be defined as any substance that can be objectively measured and evaluated as an indicator of a normal biological process, a pathogenic process or pharmacological responses to a therapeutic intervention. In pulmonary hypertension (PH), in addition to routine markers (hemodynamic and functional), there are a growing number of biomarkers that allow an increasingly comprehensive approach to knowledge of susceptibility to this disease and to diagnosis, prognosis and treatment response. These markers can be both constitutive (genetic) and disease-related (related to right ventricular failure, such as BMP/NT-proBNP, endothelial dysfunction, such as endothelin-1, or inflammation, such as certain cytokines and chemokines). Novel insights in genomics and proteomics may allow major advances in this field (AU)


Assuntos
Humanos , Citocinas/sangue , Endotelinas/sangue , Hipertensão Pulmonar/sangue , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/genética , Hipertensão Pulmonar/terapia , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Fragmentos de Peptídeos/sangue , Troponina T/sangue , Biomarcadores/sangue , Proteínas Sanguíneas/análise , Proteínas Sanguíneas/genética , Receptores de Proteínas Morfogenéticas Ósseas Tipo II/sangue , Receptores de Proteínas Morfogenéticas Ósseas Tipo II/genética , Predisposição Genética para Doença , Peptídeo Natriurético Encefálico/sangue , Polimorfismo de Nucleotídeo Único , Prognóstico
14.
Arch Bronconeumol ; 47 Suppl 7: 21-5, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-23351472

RESUMO

A biological marker can be defined as any substance that can be objectively measured and evaluated as an indicator of a normal biological process, a pathogenic process or pharmacological responses to a therapeutic intervention. In pulmonary hypertension (PH), in addition to routine markers (hemodynamic and functional), there are a growing number of biomarkers that allow an increasingly comprehensive approach to knowledge of susceptibility to this disease and to diagnosis, prognosis and treatment response. These markers can be both constitutive (genetic) and disease-related (related to right ventricular failure, such as BMP/NT-proBNP, endothelial dysfunction, such as endothelin-1, or inflammation, such as certain cytokines and chemokines). Novel insights in genomics and proteomics may allow major advances in this field.


Assuntos
Hipertensão Pulmonar/sangue , Biomarcadores/sangue , Proteínas Sanguíneas/análise , Proteínas Sanguíneas/genética , Receptores de Proteínas Morfogenéticas Ósseas Tipo II/sangue , Receptores de Proteínas Morfogenéticas Ósseas Tipo II/genética , Citocinas/sangue , Endotelinas/sangue , Predisposição Genética para Doença , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/genética , Hipertensão Pulmonar/terapia , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Polimorfismo de Nucleotídeo Único , Prognóstico , Troponina T/sangue
15.
Reumatol. clín. (Barc.) ; 6(5): 256-261, sept.-oct. 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-82046

RESUMO

Objetivos. Analizar los casos de tuberculosis (TB) en una cohorte de pacientes con lupus eritematoso sistémico (LES) y comparar la frecuencia y características de la TB en nuestra serie con las de otras series publicadas; identificar características diferenciales entre los pacientes que presentaron TB y los que no la presentaron, y evaluar si las formas más graves se relacionaron con dosis más altas de glucocorticoides (GC) u otros inmunosupresores. Material y método. Análisis descriptivo de 13 pacientes con TB de una serie de 789 pacientes con LES. Revisión de las historias clínicas de los casos. Búsqueda bibliográfica en MEDLINE-PubMed de las series LES/TB publicadas, utilizando los términos «infection», «tuberculosis», «lupus erythematosus». Estudio comparativo de casos (LES/TB+) y controles (LES/TB–) en cuanto a las características clínicas, de laboratorio y el tratamiento realizado, mediante test X2 y test exacto de Fisher. Resultados. Trece pacientes estuvieron afectados por TB (10 mujeres, con edad media de 36 años; DE de 11,2, y prevalencia del 1,6%). Se diagnosticaron 9 primoinfecciones (69,2%) y 4 reactivaciones (30,8%). El diagnóstico se confirmó mediante aislamiento microbiológico (baciloscopia y/o cultivo) en 11 casos (84,6%). La afectación pulmonar fue la más frecuente (69,2%). Ocho pacientes (61,5%) presentaron formas extrapulmonares, de las que 6 (46%) fueron diseminadas. En el momento del diagnóstico, 9 pacientes (69,2%) recibían tratamiento con GC. Fallecieron 4 pacientes (30,8%). La afectación muscular fue más frecuente en el grupo casos (p < 0,05). Conclusiones. La TB en nuestra serie supuso una alta mortalidad (30,8%) en los enfermos con LES. Las formas extrapulmonares representaron el doble con respecto a la observada en la población general. Los pacientes que recibieron dosis mayores de GC fueron los que presentaron formas más graves de TB. Los datos son similares a los publicados en la mayoría de las series nacionales y extranjeras (AU)


Objectives. 1) To study tuberculosis (TB) infection in a cohort of patients with systemic lupus erythematosus (SLE) and to compare its frequency and characteristics with that of others series. 2) To look for differential characteristic among SLE patients with and without TB. 3) To investigate if there was any relationship between TB's most severe forms and higher doses of glucocorticoids (GC) or other immunosuppressants. Patients and Method Retrospective review of medical records of 789 SLE patients and description of the clinical characteristics of 13 cases of active TB infection among them. Bibliographical search in MEDLINE-PubMed of the SLE/TB series published, using the terms: infection, tuberculosis, systemic lupus erythematosus. Comparative study of clinical, biological and therapeutic differences between cases (SLE/TB+) and controls (SLE/TB) using X2 and Fisher exact test. Results. Thirteen patients with active tuberculosis were detected (10 women, average age 36 years/SD 11,2/prevalence 1,6%). Nine (69,2%) of them were primary infections and 4 (30,8%) reactivations. Microbiological diagnosis (smear examination for acid-fast bacilli and/or culture on Lowestein-Jensen medium) was established in 11 patients (84,6%). TB Pulmonary manifestations was present in 9 patients (69,2%) and extra-pulmonary manifestations were found in 8 [(61,5%); 6 of them (46%) were disseminated forms]. Nine (69,2%) patients were on GC therapy at the moment TB was diagnosed. Four of the TB patients died (30,8%). Myositis was more frequent in TB cases (p < 0,05). This data is similar to that reported in the literature. Conclusions. In our series, TB mortality was high (30,8%) in a patients with SLE. Frequency of extrapulmonary forms was double than that described in the Spanish population. Patients with higher GC dose had more severe forms of TB (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/terapia , Tuberculose/complicações , Tuberculose/diagnóstico , Estreptomicina/uso terapêutico , Estudos de Coortes , Imunossupressores/uso terapêutico , Glucocorticoides/uso terapêutico , Isoniazida/uso terapêutico , Fatores Imunológicos/uso terapêutico , Comorbidade
16.
Med. clín (Ed. impr.) ; 135(8): 365-367, sept. 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-83629

RESUMO

Fundamento y objetivos: Analizar los episodios infecciosos graves en una cohorte de pacientes con lupus eritematoso sistémico. Pacientes y método: Análisis retrospectivo de 705 pacientes seguidos desde enero de 1980 hasta enero de 2008. Los datos se expresan en valores absolutos y porcentajes. Resultados: La frecuencia de complicaciones infecciosas fue del 38,6%. La etiología fue bacteriana en un 54,4%, vírica en un 30,4% y oportunista en un 5,2%. La afectación visceral lúpica fue pulmonar en un 38,2%, renal en un 48,9% y del sistema nervioso central en un 43%. El 43,75% de los pacientes recibió bolos de ciclofosfamida y el 88,6% glucocorticoides (el 39,7% en bolos). La mortalidad por infección fue del 27,7%. Conclusiones: La infección continúa siendo una causa importante de mortalidad en el lupus eritematoso sistémico, por lo que su diagnóstico precoz es de gran importancia (AU)


Background and objective: To study severe infectious complications in a cohort of patients with systemic lupus erythematosus (SLE). Patients and method: Retrospective study of 705 patients followed from January 1980 to January 2008. Data are expressed in percentages. Results: The frequency of severe infectious was 38,6%. The etiology was bacterial 54,4%, viric 30,4% and opportunist in 15,2% patients. Involved organs were: Lung 38,2%, kidney 48,9%, central nervous system 43%. 43,75% patients received pulsed ciclofosfamide therapy and 88,6% received glucocorticoids (39,7% pulsed). The mortality was 27,7%.Conclusions: At present, infection is an important cause of mortality in patients with SLE. Early diagnosis of infectious complications is very important in SLE (AU)


Assuntos
Humanos , Lúpus Eritematoso Sistêmico/complicações , Infecções Bacterianas/epidemiologia , Lúpus Eritematoso Sistêmico/epidemiologia , Infecções Bacterianas/tratamento farmacológico , Ciclofosfamida/uso terapêutico , Glucocorticoides/uso terapêutico , Indicadores de Morbimortalidade , Estudos Retrospectivos , Autoimunidade
18.
Med. clín (Ed. impr.) ; 135(6): 256-259, jul. 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-84165

RESUMO

Fundamento y objetivo: Comunicamos nuestra experiencia con rituximab más ciclofosfamida en el tratamiento de pacientes con miopatía inflamatoria idiopática refractaria. Pacientes y método: Estudio prospectivo abierto no controlado sobre 17 pacientes.Resultados: Evaluación cumplimentada tras 1, 6 y 12 meses en el 95,2, el 85,7 y el 52,4% de los ciclos, respectivamente. Remisión total o parcial tras 1, 6 y 12 meses en el 65, el 100 y el 63,6% de los ciclos evaluados, respectivamente. Depleción absoluta de linfocitos B en sangre periférica en los 18 casos con datos disponibles, con tendencia a la normalización tras 6 a 12 meses. Hubo 5 recaídas; la mediana de tiempo hasta la recaída fue de 11 meses; hubo repetición del tratamiento en 4 casos. Cuatro pacientes tenían afectación respiratoria; uno (etiología multifactorial) no mejoró, pero sí los otros 3, con neumopatía intersticial aislada o asociada a debilidad muscular respiratoria. Hubo 5 pacientes con anticuerpos anti-Jo-1 positivos (6 ciclos), con respuesta al tratamiento superponible al resto. Se observaron escasos efectos adversos; solo cabe destacar un caso de meningitis por Corynebacterium, con buena evolución.Conclusiones: El rituximab parece una alternativa válida en el tratamiento de pacientes con polimiositis o dermatomiositis resistentes (AU)


Background and objective: We report our experience with rituximab plus cyclophosphamide in the treatment of patients with resistant idiopathic inflammatory myopathies. Patients and method: Open-label uncontrolled prospective sudy on 17 patients.Results: Evaluation was completed after 1, 6 and 12 months in 95’2, 85’7 y 52’4% of cycles, respectively. Total or partial remission was achieved after 1, 6 and 12 months in 65, 100 y 63’6% of evaluated cycles, respectively. Absolute depletion of B lymphocites from peripheral blood was found in the 18 cases with available data. There were 5 relapses; median of time to relapse: 11 months; treatment was repeated in 4. Four patients (6 cycles) had impaired pulmonary function; one (with a multifactorial etiology) did not improve but the other 3, with interstitial pneumonia associated or not with respiratory muscle weakness, did. Five patients with positive anti-Jo-1 antibodies (6 cycles) displayed similar results. The only adverse event observed was a case of meningitis caused by Corynebacterium, with good results. Conclusion: Rituximab seems a valid alternative for the treatment of patients with resistant polymyositis or dermatomyosytis (AU)


Assuntos
Humanos , Ciclofosfamida/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Miosite/tratamento farmacológico , Estudos Prospectivos , Quimioterapia Combinada , Resistência a Medicamentos , Resultado do Tratamento
19.
Med. clín (Ed. impr.) ; 135(5): 205-208, jul. 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-84560

RESUMO

Fundamento y objetivos: Estudios norteamericanos han encontrado asociación entre pars planitis y el antígeno leucocitario humano (HLA) DR15. Esta situación no está aclarada en la población española. Los objetivos del presente estudio fueron la descripción de los datos clínicos y epidemiológicos en pacientes con pars planitis de nuestra área y determinar la frecuencia de esclerosis múltiple y HLA tipo I y II. Pacientes y método:De 226 pacientes con uveítis valorados desde enero de 1992 hasta octubre de 2005 en el servicio de oftalmología de nuestro centro, 24 cumplieron criterios diagnósticos de pars planitis. Se realizó estudio de HLA I y II a los 24 pacientes y a 194 controles sanos.Resultados: La complicación más frecuente fue el edema macular quístico. La mayoría de pacientes precisó varios tratamientos médicos. No se encontró asociación estadísticamente significativa entre nuestros pacientes y el HLA.Conclusiones: Los datos epidemiológicos coinciden con estudios previos. Parece no existir asociación entre el HLA tipo I y II con la pars planitis en nuestra población. No obstante, el pequeño tamaño de la muestra podría limitar el poder de este estudio (AU)


Background and objectives: Epidemiological studies on North American patients reported an association between HLA DR15 and pars planitis. This association has not been studied in the Spanish population. The objectives of the present study were to describe the clinical and epidemiological features of patients with pars planitis diagnosed in our hospital as well as the prevalence of multiple sclerosis and HLA class I and II.Patients and Methods: Twenty four patients with pars planitis were identified among 226 patients with uveitis diagnosed in the Ophtahlmology Department of our center from January 1992 to October 2006. Twenty four patients and 194 healthy controls underwent HLA A, B and DR genotyping.Results: The most frequent complication was cystic macular edema. Most patients needed many medical treatments. No statistical association was found between pars planitis and HLA.Conclusions: Epidemiological data were consistent with previously reported studies. There appears to be no association between the occurrence of pars planitis and HLA DR 15 or other known HLA genotypes in Spanish patients. However, the small sample size could have limited the power of this study (AU)


Assuntos
Humanos , Uveíte/genética , Pars Planite/epidemiologia , Antígeno HLA-A1/análise , Antígeno HLA-A2/análise , Estudos de Casos e Controles
20.
Hum Genet ; 128(2): 221-9, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20549518

RESUMO

Human HAVCR1 gene maps on 5q33.2, a region linked with susceptibility to allergic and autoimmune diseases. The aims of the present study were to define the haplotypes of HAVCR1 gene taking into account both HapMap Project SNP haplotypes and exon 4 variants, to investigate a possible relationship between these haplotypes and mRNA expression levels, and to assess whether HAVCR1 gene is involved in susceptibility to rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Genotyping of three ins/del variants in the exon 4 was performed by fragment length analysis. Five tag SNPs genotypes and mRNA levels were determined using TaqMan assays. We defined four major haplotypes in our population: the two major haplotypes (named haplotypes A and B) bear both the 5383_5397del variant and the two most common SNP sets found in the CEU population. Quantification analysis revealed that genotype B/B had the highest median of mRNA expression levels (vs. BX + XX, p < 0.0001). Additionally, frequency of the genotype BB was significantly higher in RA patients than in controls (12.3 vs. 5.9% in controls, p = 0.0046, p (c) = 0.014, OR = 2.23, 95% CI 1.23-4.10). Our results support a relationship between HAVCR1 haplotypes and mRNA expression levels, and suggest an association of this gene with autoimmune diseases.


Assuntos
Haplótipos , RNA Mensageiro/metabolismo , Artrite Reumatoide/genética , Artrite Reumatoide/imunologia , Artrite Reumatoide/metabolismo , Doenças Autoimunes/complicações , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Fenômenos Bioquímicos , Suscetibilidade a Doenças/complicações , Suscetibilidade a Doenças/imunologia , Éxons , Genótipo , Humanos , Testes Imunológicos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/imunologia , Fenômenos Fisiológicos , Polimorfismo de Nucleotídeo Único , RNA Mensageiro/genética , RNA Mensageiro/imunologia
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