RESUMO
OBJECTIVE: To describe the demographic and clinical features, as well as the frequency of the HLA-B*51 allele in Behçet disease (BD) patients in Latin American countries. METHODS: A systematic literature review of PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis) guidelines was conducted without performing a meta-analysis. We included observational studies (cross-sectional or cohort) of BD patients fulfilling the International Study Group for BD classification criteria and reported the demographic, clinical, and laboratory features of the disease in adult patients. RESULTS: Twelve studies were included in the SLR. Information from 532 patients across 5 Latin American countries was included for the analysis. Mean age at disease diagnosis was 33 years, 58.3% were female and 41.7% male; most patients were non-Caucasian. The most common clinical manifestations were recurrent oral ulcers and genital ulcers, followed by skin, eye, joint, neurological, gastrointestinal, vascular, and cardiac involvement. The prevalence of BD was described in 2 studies, 1 conducted in Brazil that reported a prevalence of .3/100,000 inhabitants, and another in Colombia with a prevalence of 1.1/100,000 inhabitants. The frequency of HLA-B*51 allele in BD patients was 38%, 30.1%, and 9% in Argentina, Brazil, and Mexico, respectively. CONCLUSIONS: The prevalence of BD in the Latin American countries seems to be low, as well as the frequency of HLA-B*51 allele. However, the strength of association between HLA-B*51 and BD remains high in our population. The key clinical features of BD are like those reported in countries/regions where BD is endemic.
Assuntos
Síndrome de Behçet , Adulto , Humanos , Masculino , Feminino , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/epidemiologia , Síndrome de Behçet/genética , Estudos Transversais , América Latina/epidemiologia , Antígenos HLA-B/genética , PrevalênciaRESUMO
OBJECTIVES: Crohn's disease (CD) and Behçet's disease (BD) are two autoinflammatory diseases that share clinical and pathogenic features. Furthermore, when BD involves the gastrointestinal tract, it is extremely difficult to distinguish endoscopic lesions from CD lesions. HLA-B*51 allele expression is highly associated with BD diagnosis. In this study we analysed HLA-B*51 status in 70 Argentine patients with confirmed CD diagnosis and compared it to our previous Argentine BD cohort, with the aim of finding similarities or differences between these two diseases regarding HLA-B*51 status. METHODS: This is a multi-centre case-control study, including 70 patients with confirmed CD diagnosis, who underwent HLA-B*51 allele status testing; the results were compared to our previous BD cohort of 34 patients. RESULTS: Among patients with CD, 12.85% were positive for the HLA-B*51 allele, compared with 38.24% patients with BD (OR=0.238; 95% CI=0.089-0.637; p=0.004). CONCLUSIONS: Our finding suggests that determination of HLA-B*51 allele status may contribute to the differential diagnosis between CD and BD.
Assuntos
Síndrome de Behçet , Doença de Crohn , Humanos , Estudos de Casos e Controles , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Alelos , Antígenos HLA-B/genética , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/genética , Antígeno HLA-B51/genéticaRESUMO
OBJECTIVES: To validate the systemic lupus activity questionnaire (SLAQ) in Spanish language. METHODS: The SLAQ questionnaire was translated and adapted in Spanish. Consecutive SLE patients from 8 centers in Argentina were included. A rheumatologist completed a Systemic Lupus Activity Measure (SLAM), Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)-2K, and a physician's assessment. Reliability was assessed by internal consistency (Cronbach's alpha), stability by test-retest reliability (intraclass correlation coefficient), and construct validity by evaluating the correlation with clinically relevant scores. Sensitivity and specificity for clinically significant disease activity (SLEDAI ≥6) of different S-SLAQ cut-off points were evaluated. RESULTS: We included 97 patients ((93% female, mean age: 40 years (SD14.7)). Internal consistency was excellent (Cronbach's alpha = 0.84, p < 0.001), and the intraclass correlation coefficient was 0.95 (p < 0.001). Mean score of S-SLAQ was 8.2 (SD 7.31). Correlation of S-SLAQ was moderate with Patient NRS (r= 0.63 p< 0.001), weak with SLAM-no lab (r = 0.42, p <0.001) and SLAM (r = 0.38, p < 0.0001), and very weak with SLEDAI-2K (r = 0.15, p =0.1394). Using the S-SLAQ cutoff of five points, the sensitivity was 72.2% and specificity was 37.9%, for clinically significant disease activity. CONCLUSIONS: The S-SLAQ showed good validity and reliability. A good correlation, similar to the original instrument, was observed with patient´s global disease activity. No correlation was found between S-SLAQ and gold standard disease activity measures like SLEDAI-2K and SLAM. The S-SLAQ cutoff point of 5 showed a good sensitivity to identify the active SLE population and therefore could be an appropriate screening instrument for disease activity in clinical and epidemiological studies.
Assuntos
Lúpus Eritematoso Discoide , Lúpus Eritematoso Sistêmico , Adulto , Feminino , Humanos , Idioma , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
Gene regulation in yeast occurs at the transcription level, i.e. the basal level of expression is very low and increased transcription requires gene-specific transcription factors allowing the recruitment of basal transcriptional machinery. Saccharomyces cerevisiae BAP2 gene encodes the permease responsible for most uptake of leucine, valine and isoleucine, amino acids that this yeast can use as nitrogen sources. Moreover, BAP2 expression is known to be induced by the presence of amino acids such as leucine. In this context, the results presented in this paper show that BAP2 is an inducible gene in the presence of nitrogen-non-preferred source proline but exhibits high constitutive non-inducible expression in nitrogen-preferred source ammonium. BAP2 expression is regulated by the SPS sensor system and transcription factors Leu3, Gcn4 and Dal81. This can be achieved or not through a direct binding to the promoter depending on the quality of the nitrogen source. We further demonstrate here that an interaction occurs in vivo between Uga3 â the transcriptional activator responsible for γ-aminobutyric acid (GABA)-dependent induction of the GABA genes â and the regulatory region of the BAP2 gene, which leads to an increase in BAP2 transcription.
Assuntos
Sistemas de Transporte de Aminoácidos/genética , Proteínas de Ligação a DNA/metabolismo , Proteínas de Saccharomyces cerevisiae/genética , Fatores de Transcrição/metabolismo , Sistemas de Transporte de Aminoácidos/metabolismo , Aminoácidos de Cadeia Ramificada/metabolismo , Proteínas de Ligação a DNA/genética , Regulação Fúngica da Expressão Gênica , Nitrogênio/metabolismo , Regiões Promotoras Genéticas , Proteínas de Saccharomyces cerevisiae/metabolismo , Fatores de Transcrição/genéticaRESUMO
Life history trade-offs have been posited to shape wild animals' immune responses against microparasites (e.g., bacteria, viruses). However, coinfection with gut helminths may bias immune phenotypes away from inflammatory responses and could be another mechanism underlying variation in immune responses. We examined how the magnitude of a common and costly response to microparasites, the acute phase response (APR), varied with helminth coinfection at both the individual and the population levels in Song Sparrows ( Melospiza melodia). The APR includes fever and sickness behaviors, like lethargy and anorexia, and provides a whole-organism metric of immune activation. We combined data on fever and lethargy in response to an immune challenge (lipopolysaccharide) with postmortem data assessing helminth burdens and data on malarial parasite infection from blood samples in sparrows from two populations: southern California and western Washington, US. We predicted that birds with higher helminth burdens would express less severe APRs, at both the individual and population levels. Furthermore, we predicted that these reduced immune responses would diminish resistance against malarial parasites and would thus be associated with higher prevalences of such parasites. Previously, Song Sparrows from Washington have been shown to mount less severe APRs than those from California. In our study, Washington birds also exhibited higher helminth burdens and a higher prevalence of one type of avian malarial parasite. Because of low variation in helminth burdens in California (median=0, range=0-3), we tested within-population relationships only in birds from Washington, where the severity of fever and lethargy correlated negatively with helminth burden. These results suggested that helminth coinfection could help mediate immune responsiveness in wild songbirds.
Assuntos
Doenças das Aves/parasitologia , Helmintíase Animal/imunologia , Malária Aviária/imunologia , Aves Canoras/parasitologia , Distribuição Animal , Animais , Animais Selvagens , Doenças das Aves/imunologia , California/epidemiologia , Helmintíase Animal/complicações , Malária Aviária/complicações , Masculino , Washington/epidemiologiaRESUMO
OBJECTIVE: To study the prevalence and the associated factors of work disability (WD) in systemic lupus erythematosus (SLE) patients. METHODS: A sample of 419 SLE patients from an observational cross-sectional multicenter study was included. Sociodemographic features, disease characteristics, comorbidities, quality of life, unhealthy behaviors, and work-related factors were measured in a standardized interview. Work disability was defined by patient self-report of not being able to work because of SLE. To identify variables associated with work disability, two different multivariate regression models using a stepwise backward method were performed. RESULTS: Prevalence of WD due to SLE was 24.3%. Eighty-nine percent were female and 51% were Caucasians. Mean disease duration was 8.9 ± 7.2 years, and median System Lupus International Collaborating Clinics/American College of Rheumatology damage index SLICC-SDI was 1.5 (range 0-17). In stepwise multivariate logistic regression, living below the poverty line (odds ratio [OR] = 4.65), less than 12 years of education (OR = 2.84), Mestizo ethnicity (OR = 1.94) and SLICC-SDI (OR = 1.25) were predictors of WD. A second model was performed including patient-derived measures; in this model sedentary lifestyle (OR = 2.69) and lower emotional health domain score of the Lupus Quality of Life (LupusQoL) questionnaire (OR = 1.03) were found to be associated to WD and a higher score in LupusQoL physical health domain (OR = 0.93) was protective. CONCLUSION: The prevalence of WD in Argentinian SLE patients was 24.3%. WD was associated with ethnic (Mestizo), socioeconomic (poverty) and disease-related factors. Patient-related outcomes such us sedentary lifestyle and poor emotional quality of life were also associated with WD.
Assuntos
Absenteísmo , Avaliação da Deficiência , Indígenas Sul-Americanos , Lúpus Eritematoso Sistêmico/etnologia , Licença Médica , Determinantes Sociais da Saúde , Fatores Socioeconômicos , Adulto , Argentina/epidemiologia , Estudos Transversais , Emoções , Feminino , Nível de Saúde , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/psicologia , Lúpus Eritematoso Sistêmico/terapia , Masculino , Saúde Mental , Pessoa de Meia-Idade , Pobreza , Prevalência , Qualidade de Vida , Fatores de Risco , Comportamento Sedentário , Adulto JovemRESUMO
Acute disseminated encephalomyelitis (ADEM) and Guillain-Barré Syndrome (GBS) are commonly recognized as separated entities involving different parts of the nervous system. However, they share some features such as: autoimmune pathogenesis, myelin injury and previous history of viral infections or vaccination. We report the case of a 41 year-old man who developed fever, lower limbs weakness and obtundation fifteen days after an acute gastroenteritis. Neurological examination showed patellar hypereflexia, bilateral Babinski and neurogenic bladder. Twenty-four hours later he developed flaccid paraparesis, generalized areflexia and respiratory failure that was supported by mechanical ventilation. Cerebrospinal fluid showed mononuclear pleocytosis and elevated proteins. Electrodiagnosis showed important reduction of conduction velocity on both peroneal nerves. Magnetic Resonance Imaging revealed white matter lesions in brain, pons and thoracic levels of the spinal cord. Diagnosis of the association between ADEM and GBS (ASADEM-GBS) was made and treatment with corticosteroids and intravenous immunoglobulin was started. The patient recovered motor, sensory and bladder functions and he was able to walk six months later. ASADEM-GBS is an uncommon entity generally considered of poor outcome; however a rapid diagnosis and treatment can substantially improve the prognosis.
Assuntos
Encefalomielite Aguda Disseminada/diagnóstico , Síndrome de Guillain-Barré/diagnóstico , Adulto , Diagnóstico Precoce , Encefalomielite Aguda Disseminada/complicações , Síndrome de Guillain-Barré/complicações , Humanos , MasculinoRESUMO
La encefalomielitis diseminada aguda (EMDA) y el síndrome de Guillain-Barré (SGB) son reconocidas como entidades distintas, que afectan diferentes sectores del sistema nervioso, pero que comparten varias características tales como la patogenia autoinmune, el impacto sobre la mielina y el antecedente de infección viral o vacunación una a cuatro semanas previas al cuadro clínico. Se presenta un paciente varón de 41 años de edad que consultó por presentar fiebre, debilidad en miembros inferiores y somnolencia dos semanas posteriores a episodio agudo de gastroenteritis. Al ingreso se constató deterioro del sensorio (obnubilación) hiperreflexia patelar, Babinski bilateral y vejiga neurogénica. Veinticuatro horas después desarrolló paraplejía flácida y arreflexia generalizada, requiriendo asistencia respiratoria mecánica por insuficiencia respiratoria. El líquido cefalorraquídeo mostró pleocitosis mononuclear e hiperproteinorraquia. El estudio electrofisiológico evidenció importante disminución de las velocidades de conducción en ambos nervios ciáticos poplíteos externos, compatible con polineuropatía desmielinizante. La resonancia magnética nuclear mostró imágenes compatibles con desmielinización en cerebro, protuberancia y segmentos medulares dorsales. Se realizó diagnóstico de ASEMDA-SGB e inició tratamiento con metilprednisolona e inmunoglobulina intravenosa. Evolucionó favorablemente, recuperando las funciones motoras, vesical y la sensibilidad, siendo capaz de deambular luego de seis meses. La asociación de EMDA y SGB (ASEMDA-SGB) es una condición infrecuente, generalmente señalada como de mal pronóstico, en la cual un diagnóstico precoz y un rápido y enérgico tratamiento pueden mejorar substancialmente la evolución.
Acute disseminated encephalomyelitis (ADEM) and Guillain-Barré Syndrome (GBS) are commonly recognized as separated entities involving different parts of the nervous system. However, they share some features such as: autoimmune pathogenesis, myelin injury and previous history of viral infections or vaccination. We report the case of a 41 year-old man who developed fever, lower limbs weakness and obtundation fifteen days after an acute gastroenteritis. Neurological examination showed patellar hypereflexia, bilateral Babinski and neurogenic bladder. Twenty-four hours later he developed flaccid paraparesis, generalized areflexia and respiratory failure that was supported by mechanical ventilation. Cerebrospinal fluid showed mononuclear pleocytosis and elevated proteins. Electrodiagnosis showed important reduction of conduction velocity on both peroneal nerves. Magnetic Resonance Imaging revealed white matter lesions in brain, pons and thoracic levels of the spinal cord. Diagnosis of the association between ADEM and GBS (ASADEM-GBS) was made and treatment with corticosteroids and intravenous immunoglobulin was started. The patient recovered motor, sensory and bladder functions and he was able to walk six months later. ASADEM-GBS is an uncommon entity generally considered of poor outcome; however a rapid diagnosis and treatment can substantially improve the prognosis.
Assuntos
Adulto , Humanos , Masculino , Encefalomielite Aguda Disseminada/diagnóstico , Síndrome de Guillain-Barré/diagnóstico , Diagnóstico Precoce , Encefalomielite Aguda Disseminada/complicações , Síndrome de Guillain-Barré/complicaçõesRESUMO
The objective of this series was to describe the general characteristics and clinical manifestations of patients with small vessel vasculitis who were assisted in the autoimmunity department of a community public hospital and to compare the results with the literature. Clinical records under the label of vasculitis in a period of 16 years were reviewed in a retrospective way. All patients selected fulfilled diagnostic criteria of small vessel vasculitis. The data were extracted and the analysis of survival was completed by phone. Later a bibliographical search was carried out and the results were compared. Thirteen patients with Wegener's granulomatosis, 6 with Churg-Strauss syndrome and 10 with microscopic polyangiitis were included. Fifty five percent (16) were under 55 years old when diagnosis was made and male/female ratio was 2.6 to 1. The diagnostic delay was over a year in 46% of the cases. Respiratory and ear-nose-throat were the most frequently affected systems. Anti-neutrophil cytoplasmic antibodies were present in 79% of patients. Overall mortality was 24% (7/29). There were several differences between the results of our series and the literature: the presentation form, affected systems and percentage of patients with anti-neutrophil cytoplasmic antibodies. Greater diagnostic delay and worse prognosis were observed in anti-neutrophil cytoplasmic antibody negative patients. Special attention should be given to these antibodies since they constitute a significant tool at the time of diagnosis.
Assuntos
Anticorpos Anticitoplasma de Neutrófilos/sangue , Síndrome de Churg-Strauss/diagnóstico , Granulomatose com Poliangiite/diagnóstico , Poliangiite Microscópica/diagnóstico , Adulto , Idoso , Biomarcadores/sangue , Feminino , Hospitais Públicos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
El objetivo de esta serie fue describir las características generales y manifestaciones clínicas de pacientes con vasculitis de pequeños vasos que concurrieron al servicio de autoinmunidad de un hospital de la comunidad y compararlas con la literatura. Se revisaron de manera retrospectiva las historias clínicas archivadas bajo el rótulo de vasculitis en un período de 16 años. Se seleccionaron aquellos pacientes que cumplieran criterios diagnósticos de vasculitis de pequeños vasos. Se extrajeron los datos de interés y se constató la supervivencia mediante contacto telefónico. Posteriormente se realizó una búsqueda bibliográfica y se compararon los resultados. Se incluyeron 13 pacientes con granulomatosis de Wegener, 6 con síndrome de Churg Strauss y 10 con poliangeítis microscópica. El 55% (16) fueron menores de 55 años al diagnóstico y hubo predominio del sexo femenino (2.6:1). La demora diagnóstica fue mayor a un año en el 46% de los casos. Los sistemas más frecuentemente afectados fueron respiratorio y otorrinolaringológico. El 79% presentó anticuerpos anti-citoplasma de neutrófilos (ANCA) positivos. La mortalidad fue del 24% (7/29). Al comparar las características de los pacientes incluidos en esta serie con lo descripto en la literatura, se hallaron diferencias en cuanto a la forma de presentación, sistemas comprometidos y porcentaje de pacientes ANCA positivos; además se observó que el resultado negativo de este marcador parece asociarse con mayor demora diagnóstica y en consecuencia peor pronóstico, lo que remarca su importancia como herramienta adicional no invasiva al momento del diagnóstico.
The objective of this series was to describe the general characteristics and clinical manifestations of patients with small vessel vasculitis who were assisted in the autoimmunity department of a community public hospital and to compare the results with the literature. Clinical records under the label of vasculitis in a period of 16 years were reviewed in a retrospective way. All patients selected fulfilled diagnostic criteria of small vessel vasculitis. The data were extracted and the analysis of survival was completed by phone. Later a bibliographical search was carried out and the results were compared. Thirteen patients with Wegener's granulomatosis, 6 with Churg-Strauss syndrome and 10 with microscopic polyangiitis were included. Fifty five percent (16) were under 55 years old when diagnosis was made and male/female ratio was 2.6 to 1. The diagnostic delay was over a year in 46% of the cases. Respiratory and ear-nose-throat were the most frequently affected systems. Anti-neutrophil cytoplasmic antibodies were present in 79% of patients. Overall mortality was 24% (7/29). There were several differences between the results of our series and the literature: the presentation form, affected systems and percentage of patients with anti-neutrophil cytoplasmic antibodies. Greater diagnostic delay and worse prognosis were observed in anti-neutrophil cytoplasmic antibody negative patients. Special attention should be given to these antibodies since they constitute a significant tool at the time of diagnosis.