Fascitis necrotizante asociada a esteatohepatitis en el curso del lupus eritematoso sistémico / Necrotizing Fasciitis Associated with Steatohepatitis in The Course of Systemic Lupus Erythematosus

Introducción: La fascitis necrotizante es un cuadro muy grave causado por una infección bacteriana de la piel y de tejidos blandos subcutáneos, cuya evolución es hacia la destrucción y necrosis de los tejidos en un corto espacio de tiempo; el lupus eritematoso sistémico es una enfermedad autoinmune de causa desconocida que quienes la padecen tienen una mayor probabilidad de contraer infecciones debido al mal funcionamiento del sistema inmunológico y/o los efectos secundarios causados por los medicamentos. Objetivo: Observar la importancia de un tratamiento rápido y eficaz de la fascitis necrotizante en un paciente con lupus eritematoso sistémico y esteatohepatitis no alcohólica. Presentación de caso: Se presentó el caso clínico de un paciente de 30 años con diagnóstico de lupus eritematoso sistémico que desarrolló de forma concomitante de fascitis necrotizante y esteatohepatitis no alcohólica. A pesar de un tratamiento adecuado, el paciente fue agresivo. Tuvo una estadía hospitalaria de 83 días, con una evolución desfavorable que conllevó a la muerte(AU)

Introduction: Necrotizing fasciitis is a very serious condition caused by a bacterial infection of the skin and subcutaneous soft tissues, whose evolution is towards the destruction and necrosis of the tissues in a short space of time; Systemic lupus erythematosus is an autoimmune disease of unknown cause that sufferers are more likely to contract infections due to poor immune system function and/or side effects caused by medications. Objective: To observe the importance of rapid and effective treatment of necrotizing fasciitis in a patient with systemic lupus erythematosus and non-alcoholic steatohepatitis. Case report: We report the clinical case of a 30-year-old patient diagnosed with systemic lupus erythematosus who concomitantly developed necrotizing fasciitis and nonalcoholic steatohepatitis. Despite adequate treatment, the patient was aggressive. The patient had a hospital stay of 83 days, with an unfavorable evolution that led to his death(AU)

Anti-C1q como Marcador de Nefritis Lúpica / Anti-C1q as Lupus Nephritis Marker

Introducción: Los autoanticuerpos anti-C1q han sido propuestos como un marcador útil en el lupus eritematoso sistémico por su asociación con la nefritis lúpica. Objetivo: Determinar la prevalencia de anti-C1q en pacientes con lupus eritematoso sistémico y otras enfermedades reumáticas para la evaluar la asociación con la nefropatía lúpica. Métodos: Se incluyeron 179 pacientes con lupus eritematoso sistémico y 82 con otras enfermedades reumáticas. La nefritis lúpica fue diagnosticada en 70 (39 por ciento) de los pacientes con lupus eritematoso sistémico. Los anticuerpos anti-C1q IgG se determinaron por ELISA. Las asociaciones se evaluaron por análisis de regresión logística. Resultados: La prevalencia de anti-C1q fue de 37 poe ciento (66/179) en los pacientes con lupus eritematoso sistémico y de 9 por ciento (7/82) en controles (OR = 6,3; IC 95 por ciento 2,8-14,1; p < 0,001). El anti-C1q fue asociado con proteinuria (OR = 2,6; IC 95 por ciento 1,2-6,0; p < 0,022); eritrosedimentación elevada (OR = 3,2; IC 95 por ciento 1,5-6,7; p < 0,003) y anti-DNAdc (OR = 3,9; IC 95 por ciento 1,7-9,1; p < 0,002). En el modelo de regresión logística ajustado para demografía y anti-DNAdc, aunque la OR del anti-C1q para la nefritis fue 2 veces más alta que en ausencia del anti-C1q, solo se aproximó a la significación estadística. La positividad simultánea de anti-C1q y anti-DNAdc estuvo asociada a la nefritis lúpica (OR = 4,3; IC 95 por ciento 1,9-9,5; p < 0,001). Conclusiones: El anti-C1q se presentó con mayor frecuencia en pacientes con lupus eritematoso sistémico que en los controles. El anti-C1q combinado con anti-DNAdc resultó fuertemente asociado a la nefritis lúpica(AU)

Introducción: Anti-C1q autoantibodies have been proposed as useful marker in systemic lupus erythematosus due to their association with lupus nephritis. Objective: To determine the prevalence of anti-C1q in patients with systemic lupus erythematosus and other rheumatic diseases to evaluate the association with lupus nephropathy. Methods: One hundred seventy-nine patients with systemic lupus erythematosus and 82 with other rheumatic diseases were included. Lupus nephritis was diagnosed in 70 (39percent) of patients with systemic lupus erythematosus. Anti-C1q IgG antibodies were determined by ELISA. Associations were evaluated by logistic regression analysis. Results: The prevalence of anti-C1q was 37percent (66/179) in patients with systemic lupus erythematosus and 9percent (7/82) in controls (OR = 6.3; 95percent CI 2.8-14). .1; p < 0.001). Anti-C1q was associated with proteinuria (OR = 2.6; 95percent CI 1.2-6.0; p < 0.022); elevated erythrocyte sedimentation rate (OR = 3.2; 95percent CI 1.5-6.7; p < 0.003) and anti-dsDNA (OR = 3.9; 95percent CI 1.7-9.1; p < 0.002). In the logistic regression model adjusted for demographics and anti-dsDNA, although the OR of anti-C1q for nephritis was 2-fold higher than in the absence of anti-C1q, it only approached statistical significance. Simultaneous positivity of anti-C1q and anti-dsDNA was associated with lupus nephritis (OR = 4.3; 95percent CI 1.9-9.5; p < 0.001). Conclusions: Anti-C1q occurred more frequently in patients with systemic lupus erythematosus than in controls. Anti-C1q combined with anti-dsDNA was strongly associated with lupus nephritis(AU)

Frecuencia de eventos cardiovasculares en pacientes con lupus eritematoso sistémico / Frequency of cardiovascular events in patients with systemic lupus erythematosus

Resumen Introducción: el progreso en los tratamientos para el lupus eritematoso sistémico (LES) resultó en una disminución de la mortalidad; sin embargo, la enfermedad cardiovascular y las complicaciones infecciosas aún son las principales causas de muerte. La evidencia apoya la participación del sistema inmunológico en la generación de la placa aterosclerótica, así como su conexión con las enfermedades autoinmunes. Objetivos: describir la frecuencia de eventos cardiovasculares (ECV) en el Registro de Lupus Eritematoso Sistémico de la Sociedad Argentina de Reumatología (RELESSAR) transversal, así como sus principales factores de riesgo asociados. Materiales y métodos: estudio descriptivo y transversal para el cual se tomaron los pacientes ingresados en el registro RELESSAR transversal. Se describieron las variables sociodemográficas y clínicas, las comorbilidades, score de actividad y daño. ECV se definió como la presencia de al menos una de las siguientes patologías: enfermedad arterial periférica, cardiopatía isquémica o accidente cerebrovascular. El evento clasificado para el análisis fue aquel posterior al diagnóstico del LES. Se conformaron dos grupos macheados por edad y sexo 1:2. Resultados: 1515 pacientes mayores de 18 años participaron del registro. Se describieron 80 pacientes con ECV (5,3%). En este análisis se incluyeron 240 pacientes conformando dos grupos. La edad media fue de 47,8 (14,4) y 47,6 (14,2) en el grupo con y sin ECV respectivamente. Los pacientes con ECV tuvieron mayor duración del LES en meses, mayor índice de Charlson, mayor SLICC (Systemic Lupus International Collaborating Clinics/American College of Rheumatology), mayor frecuencia de manifestaciones neurológicas, síndrome antifosfolípido, hospitalizaciones y uso de ciclofosfamida. Las únicas variables asociadas en el análisis multivariado fueron el índice de Charlson (p=0,004) y el SLICC (p<0,001). Conclusiones: los ECV influyen significativamente en nuestros pacientes, y se asocian a mayor posibilidad de daño irreversible y comorbilidades.

Abstract Introduction: progress in treatments for systemic lupus erythematosus (SLE) has resulted in a decrease in mortality; however, cardiovascular and infectious diseases remain the leading causes of death. Evidence supports the involvement of the immune system in the generation of atherosclerotic plaque, as well as its connection to autoimmune diseases. Objectives: to describe the frequency of cardiovascular disease (CVD) in the cross-sectional RELESSAR registry, as well as its associated variables. Materials and methods: a descriptive and cross-sectional study was performed using patients admitted to the cross-sectional RELESSAR registry. Sociodemographic variables, clinical variables, comorbidities, activity and damage scores were described. CVD was defined as at least one of the following: peripheral arterial disease, ischemic heart disease, or cerebrovascular accident. All patients with at least one CVD were included in our analysis (heart attack, central nervous system vascular disease, and peripheral arteries atherosclerotic disease). The event classified for the analysis was that after the diagnosis of SLE. SLE diagnosis was previous to CVD. Two groups matched by age and sex, 1:2 were formed. Results: a total of 1515 patients older than 18 years participated in the registry. Eighty patients with CVD (5.3%) were described in the registry. Two-hundred and forty patients were included, according to two groups. The mean age was 47.8 (SD 14.4) and 47.6 (SD 14.2) in patients with and without CVD, respectively. Patients with CVD had a longer duration of SLE in months, a higher Charlson index, a higher SLICC, increased frequency of neurological manifestations, antiphospholipid syndrome, hospitalizations, and use of cyclophosphamide. The associated variables in the multivariate were the Charlson Index (p=0.004) and the SLICC (p<0.001). Conclusions: CVDs have a significant influence on our patients, being associated with a greater possibility of damage and comorbidities.

Caso clínico de enfermería: modelo de adaptación en adolescente con síndrome de Felty y Rhupus / Nursing Clinical Case: Model of Adaptation in Adolescent with Felty and Rhupus Syndrome / Relato de caso de enfermagem: modelo de adaptação em adolescente com síndrome de Felty e Rhupus

Introducción. El síndrome de Rhupus es la superposición de dos enfermedades autoinmunes, la artritis reumatoide o artritis idiopática juvenil y el lupus eritematoso sistémico, la prevalencia es de 7-401 por 100,000 niños. El síndrome de Felty se caracteriza por la tríada de artritis idiopática juvenil, esplenomegalia y neutropenia; padecer más de una patología reumática es un extraño fenómeno estimado entre el 0.01-2%. Objetivo. Describir el proceso de atención de enfermería integral en una adolescente con Rhupus y síndrome de Felty, bajo el modelo de adaptación de Callista Roy. Metodología. Caso clínico de enfermería en una paciente de 15 años seleccionada en hospitalización pediátrica, con previo consentimiento informado; intervenida a través del proceso de atención de enfermería estructurado según la taxonomía de la North American Nursing Diagnosis Association, la Clasificación de Resultados de Enfermería, y la Clasificación de Intervenciones de Enfermería, con intervenciones intrahospitalarias y seguimiento con tele-enfermería. Resultados. Mejoría de la ambulación y afrontamiento de problemas evidenciados por el aumento del bienestar de la paciente y la familia. Conclusiones. Ante una enfermedad desconocida, el proceso de atención de enfermería, con intervenciones directas y acompañamiento continuo, permite realizar una atención integral, a fin de lograr la adaptación de la paciente y su familia. Palabras clave: Adaptación Psicológica; Atención de Enfermería; Enfermería; Síndrome de Felty; Lupus Eritematoso Sistémico; Resiliencia Psicológica.

Introduction. Rhupus syndrome is the overlap of two autoimmune diseases, rheumatoid arthritis or juvenile idiopathic arthritis, and systemic lupus erythematosus, with a prevalence of 7-401 per 100,000 children. Felty's syndrome is characterized by the triad of juvenile idiopathic arthritis, splenomegaly, and neutropenia; experiencing more than one rheumatic pathology is a rare phenomenon estimated between 0.01-2%. Objective. Describe the comprehensive nursing care process in an adolescent with Rhupus and Felty's syndrome, under the adaptation model of Callista Roy. Methodology. Nursing case study of a 15-year-old patient selected in pediatric hospitalization, with prior informed consent; intervened through the structured nursing care process according to the taxonomy of the North American Nursing Diagnosis Association, the Nursing Outcomes Classification, and the Nursing Interventions Classification, with in-hospital interventions and follow-up through tele-nursing. Results. Improvement in ambulation and coping with problems evidenced by the increased well-being of the patient and the family. Conclusions. Faced with an unknown disease, the nursing care process, with direct interventions and continuous support, allows for comprehensive care to achieve the adaptation of the patient and her family. Keywords: Adaptation, Psychological; Nursing Care; Nursing; Felty Syndrome; Lupus Erythematosus, Systemic; Resilience, Psychological.

Introdução. A síndrome de Rhupus é a sobreposição de duas doenças autoimunes, artrite reumatoide ou artrite idiopática juvenil e lúpus eritematoso sistêmico, a prevalência é de 7-401 por 100,000 crianças. A síndrome de Felty é caracterizada pela tríade de artrite idiopática juvenil, esplenomegalia e neutropenia; sofrer de mais de uma patologia reumática é um fenômeno estranho estimado entre 0.01-2%. Objetivo. Descrever o processo de assistência integral de enfermagem em uma adolescente com Rhupus e síndrome de Felty, sob o modelo de adaptação de Callista Roy. Metodologia. Caso clínico de enfermagem em uma paciente de 15 anos selecionada em internação pediátrica, com prévio consentimento informado; ela teve intervenção por meio do processo de cuidado de enfermagem estruturado segundo a taxonomia da North American Nursing Diagnosis Association, a Classificação dos Resultados de Enfermagem e a Classificação das Intervenções de Enfermagem, com intervenções intra-hospitalares e acompanhamento com tele-enfermagem. Resultados. Melhora na deambulação e enfrentamento de problemas evidenciados pelo aumento do bem-estar do paciente e da família. Conclusões. Diante de uma doença desconhecida, o processo de assistência de enfermagem, com intervenções diretas e acompanhamento contínuo, permite um cuidado integral, de forma a alcançar a adaptação do paciente e de sua família. Palavras-chave: Adaptação Psicológica; Cuidados de Enfermagem; Enfermagem; Síndrome de Felty; Lúpus Eritematoso Sistêmico; Resiliência Psicológica.

Climatério e lúpus eritematoso sistêmico / Climacteric and systemic lupus erythematosus

O lúpus eritematoso sistêmico é uma doença crônica, complexa e multifatorial que apresenta manifestações em vários órgãos. O seu acometimento ocorre 10 vezes mais no sexo feminino do que no masculino. É uma doença com uma clínica variada e com graus variados de gravidade, causando fadiga, manifestações cutâneas, como rash malar, fotossensibilidade, queda de cabelo e manifestações musculoesqueléticas, como artralgia, mialgia e atrite. Podem ocorrer flares (crises), que se caracterizam por aumento mensurável na atividade da doença. No climatério, no período da pré-menopausa, o lúpus eritematoso sistêmico ocorre com mais frequência, podendo ocorrer também na pós-menopausa. Algumas doenças são mais frequentes na fase do climatério, e a presença do lúpus pode influenciar na sua evolução, como a doença cardiovascular, osteoporose e tromboembolismo venoso. A terapia hormonal oral determina aumento do risco de tromboembolismo venoso no climatério, e na paciente com lúpus eritematoso sistêmico há aumento dos riscos de flares e de trombose. Em vista disso, a terapia hormonal é recomendada apenas para pacientes com lúpus eritematoso sistêmico estável ou inativo, sem história de síndrome antifosfolípides e com anticorpos antifosfolípides negativa, devendo-se dar preferência para a terapia estrogênica transdérmica, em menor dose e de uso contínuo. Na paciente com lúpus eritematoso sistêmico ativo ou com história de síndrome antifosfolípides ou com anticorpos antifosfolípides positiva, recomenda-se a terapia não hormonal, como os antidepressivos. (AU)

Systemic lupus erythematosus is a chronic, complex, multifactorial disease that manifests in several organs. Its involvement occurs 10 times more in females than in males. It is a disease with a varied clinic and varying degrees of severity, causing fatigue, skin manifestations such as malar rash, photosensitivity, hair loss and musculoskeletal manifestations such as arthralgia, myalgia and arthritis. Flare may occur, which are characterized by measurable increase in disease activity. In the climacteric, in the premenopausal period, systemic lupus erythematosus occurs more frequently, and may also occur in the postmenopausal period. Some diseases are more frequent in the Climacteric phase and the presence of lupus can influence its evolution, such as cardiovascular disease, osteoporosis and venous thromboembolism. Oral hormone therapy determines an increased risk of venous thromboembolism in the climacteric and in patients with systemic lupus erythematosus there is an increased risk of flares and thrombosis. In view of this, hormone therapy is only recommended for patients with stable or inactive systemic lupus erythematosus, without a history of antiphospholipid syndrome and with antiphospholipid antibodies, giving preference to transdermal estrogen therapy, at a lower dose and for continuous use. In patients with active systemic lupus erythematosus or with a history of antiphospholipid syndrome or positive antiphospholipid antibodies, non-hormonal therapy, such as antidepressants, is recommended. (AU)

Lupus eritematoso sistémico pediátrico asociado a hepatitis autoinmune y síndrome nefrítico: Reporte de un caso y revisión de la literatura / syndrome: A case report and review of the literature

Introducción: El lupus eritematoso sistémico (LES) es una enfermedad autoinmune que puede afectar a múltiples órganos. Las patologías asociadas como: la hepatitis y la nefritis lúpica no son frecuentes en la población infantil, pero conllevan a consecuencias graves con riesgo de insuficiencia hepática y enfermedad renal crónica, aumentando la mor-bimortalidad en los pacientes pediátricos. Caso clínico: Paciente masculino de 11 años con cuadro clínico caracterizado por: astenia, hiporexia, epistaxis, prurito e ictericia marcada, de cuatro meses de evolución, sin diagnóstico establecido. Se solicitó estudios de laboratorio que reportaron aumento de transaminasas, proteinuria, ANAS y AC. DNA positivo, además se realizaron estudios de imagen, biopsia renal y hepática, con la finalidad de esclarecer el diagnóstico. Evolución: A través de un abordaje clínico multidisciplinar, exámenes paraclínicos y anatomopatológicos se estableció el diagnóstico de LES asociado a Hepatitis Autoinmune y Nefritis Lúpica. Paciente permaneció en la Unidad de Cuidados Intensivos Pediátricos con evolución favorable a tratamiento. Conclusiones: El LES Pediátrico asociado a hepatitis autoinmune y nefritis lúpica es una rara presentación clínica de la cual existen muy pocos casos reportados a nivel mundial. En su diagnóstico se debe resaltar la perspicacia clínica multi-disciplinar, laboratorio, imagenología y datos histopatológicos clave para establecer un diagnóstico oportuno con mejor pronóstico y tratamiento y así evitar desenlaces mortales en los pacientes pediátricos.

Introduction: Systemic lupus erythematosus is an autoimmune disease that can affect multiple organs. Associated pathologies such as hepatitis and lupus nephritis are not frequent in the child population. Still, they lead to serious consequences with the risk of liver failure and chronic kidney disease, increasing morbidity and mortality in pediatric patients. Clinical case: An 11-year-old male patient with a clinical picture characterized by: asthenia, hypoxia, epistaxis, pruritus, and marked jaundice, of four months of evolution, without an established diagnosis. Laboratory studies were requested that reported increased transaminases, proteinuria, ANAS, and AC. Positive DNA, imaging studies, and kidney and liver biopsy were also performed to clarify the diagnosis. Evolution: Through a multidisciplinary clinical approach, and paraclinical and pathological examinations, the diagnosis of Systemic Lupus Erythematosus associated with Autoimmune Hepatitis and Lupus Nephritis was established. The patient remained in the Pediatric Intensive Care Unit with favorable evolution to treatment. Conclusions: Pediatric Systemic Lupus Erythematosus associated with autoimmune hepatitis and lupus nephritis is a rare clinical presentation of which very few cases are reported worldwide. In its diagnosis, multidisciplinary clinical acumen, laboratory, imaging, and critical histopathological data should be highlighted to establish an opportune diagnosis with better prognosis and treatment and thus avoid fatal outcomes in pediatric patients.

Association of Fokl polymorphism of the VDR gene with systemic lupus erythematosus in an adolescent population of the Colombian Caribbean

Introduction: Vitamin D and vitamin D receptor (VDR) polymorphisms are associated with autoimmune diseases including systemic lupus erythematosus (SLE). The aim of this study is to assess the genetic association between VDR polymorphisms: TaqI, ApaI, Bsml and FokI and SLE with serum levels of Vitamin D in the Colombian Caribbean population. Method: Case and control study. One hundred and thirty-three patients with SLE and 100 healthy individuals were included. VDR polymorphism were genotyped by RT-PCR and Taqman® probes. Allelic, genotypic and haplotype associations were estimated. Serum vitamin D concentrations were quantified by Elisa. Values of 30 to 100ng/ml were established as a normal reference range. P values <.05 were considered statistically significant. Results: A high prevalence of SLE was observed in women (94%) and was associated with a higher risk of SLE [OR: 10.8; 95% CI: 4.7-24.6] (p<.05). Moreover, higher risk of SLE was observed in individuals with FokI VDR [rs2228570] [OR: 1.58; 95% CI: 1.05-2.36] in allelic models. The ACCA Haplotype of TaqI/ApaI/Bsml/FokI polymorphisms was associated with higher risk of SLE [OR = 2.28, 95% CI = 1.12-4.66, psim <.01]. Vitamin D deficiency was evidenced in 11.3% of the patients. Conclusion: In this study, the VDR rs2228570 polymorphism and ACCA haplotype were associated with higher SLE risk in an adolescent population.

Introducción: La vitamina D y los polimorfismos en el receptor de vitamina D (VDR) se asocian con enfermedades autoinmunes, incluido el lupus eritematoso sistémico (LES). El objetivo de este estudio es analizar la asociación genética entre los polimorfismos de VDR (Taql, Apal, Bsml y Fokl) y la susceptibilidad al LES, así como su relación con los niveles séricos de vitamina D en población del Caribe colombiano. Metodología: Estudio de casos y controles. Se incluyeron 133 pacientes adultos con diagnóstico de LES y 100 individuos sanos. Los polimorfismos VDR fueron genotipados por RT-PCR y sondas Taqman®. Se estimaron asociaciones alélicas, genotípicas y haplotípicas. Las concentraciones séricas de vitamina D fueron cuantificadas por Elisa. Se establecieron valores de 30 a 100ng/ml como rango normal de referencia. Valores p<0,05 fueron considerados estadísticamente significativos. Resultados: Se observó una alta prevalencia de LES en pacientes femeninas (94%) y se asoció a mayor riesgo de LES (OR: 10,8; IC95%: 4,7-24,6; p < 0,05). Se evidenció mayor riesgo de LES en individuos con polimorfismo Fokl del gen VDR [rs2228570] (OR: 1,58; IC95%: 1,05-2,36) en modelos alélicos. El haplotipo ACCA de los polimorfismos Taql, Apal, Bsml y Fokl se asoció a mayor riesgo de LES (OR: 2,28, IC95%: 1,12-4,66; psim<0,01). Se evidenció deficiencia de vitamina D en el 11,3% de los pacientes. Conclusión: En este estudio, el polimorfismo VDR rs2228570 y el haplotipo ACCA se asociaron a mayor riesgo de LES en población adolescente.

Pseudo-obstruction, an infrequent Lupus manifestation: A case report

Gastrointestinal involvement in SLE has been reported in up to 50%, generally secondary to the adverse effects of treatment. Intestinal pseudo-obstruction is caused by hypomotility related to ineffective propulsion. The case of a 51-year-old patient with intestinal obstruction is presented. She was taken to surgical management due to suspicion of adhesions, with a stationary clinical course; the control tomography documented loop dilation and bilateral hydroureteronephrosis, associated with markers of lupus activity. It was managed as an intestinal pseudo-obstruction due to SLE with resolution of her symptoms. High diagnostic suspicion results in timely treatment and the reduction of complications.

El compromiso gastrointestinal en lupus eritematoso sistémico (LES) ha sido reportado hasta en un 50%, generalmente secundario a los efectos adversos del tratamiento. La pseudoobstrucción intestinal es causada por hipomotilidad relacionada con una propulsión inefectiva. Se presenta el caso de una paciente de 51 arios, con obstrucción intestinal por sospecha de bridas, que fue llevada a manejo quirúrgico y tuvo una evolución clínica estacionaria. La tomografía de control documentó dilatación de asas e hidroureteronefrosis bilateral, en tanto que los paraclínicos mostraron actividad lúpica. Se manejó como una pseudoobstrucción intestinal por LES con resolución del cuadro. La alta sospecha diagnóstica favorece el tratamiento oportuno y la disminución de las complicaciones.

Factores de riesgo de hospitalización y mortalidad de pacientes internados con lupus eritematoso sistémicoen Paraguay / Hospitalization and mortality risk factors of patients with systemic lupus erythematoso in Paraguay

Introducción. La internación de pacientes con lupus eritematoso sistémico (LES) es frecuente. Objetivo. Determinar los factores de riesgo de internación y mortalidad en pacientes con LES internados en el Hospital Nacional de enero del 2016 a diciembre 2019. Metodología. Estudio observacional descriptivo con componente analítico de corte transverso. Se incluyeron pacientes mayores de 15 años con el diagnóstico de LES. Las variables fueron edad, sexo, comorbilidades, abandono de tratamiento, escolaridad, score de SLEDAI, características clínicas y óbito. Los resultados se expresaron en forma de frecuencia para las variables cualitativas, como media y desviación estándar para las variables continuas. Para establecer asociaciones entre las variables cualitativas, se utilizó la prueba de la ji cuadrado y para establecer la fuerza de la asociación se calculó el Odds Ratio(OR) con su intervalo de confianza del 95 %. Resultados. se incluyeron130 pacientes (edad media:31 ± 12,1) que correspondieron a 170 internaciones, el 92% fue del sexo femenino, la hipertensión arterial se presentó en el 51,4%. La causa frecuente de internación fue la actividad de la enfermedad (75,8%). El 21,5% ingresó a UCIA (unidad de cuidados intensivos). El grado de escolaridad, el abandono del tratamiento y la actividad de la enfermedad se relacionaron (p<000001) con el óbito de los pacientes. Conclusiones. La actividad de la enfermedad fue una causa frecuente de internación y se relacionó con el óbito. Además, el abandono del tratamiento se encontró como un factor de riesgo para el óbito. Palabras Claves: hospitalización; lupus eritematoso sistémico; factores de riesgo

Introduction.Hospitalization in patients with systemic lupus erythematosus (SLE) isfrequent. Objective.To determine hospitalization and mortality risk factors inpatients with SLE admitted to the National Hospital from January 2016 to December 2019. Material and methods. observational descriptivewith an analytical componentandcross-sectional study. Patients over 15 years of age with a diagnosis of SLE were included. The variables were age, sex, comorbidities, abandonment of treatment, education, SLEDAI score, clinical characteristics and death. Results were expressed as frequency for qualitative variables, and mean and standard deviation for continuous variables. To establish associations between the qualitative variables, the chi-square test was used; and the strength of the associationwere measured by the Odds Ratio (OR)with its 95% confidence interval (CI). Results. 130 patients (mean age 31 ± 12.1) corresponding to 170 hospitalizations were studied, 92% were women and arterial hypertension presented 51.4%of the patients. The frequent cause of hospitalization was disease activity (75.8%). A 21.5% were admitted to theICU (intensive care unit). Education level, treatment abandonment and disease activity were associated to mortality(p<000001). Conclusions.Disease activity was a frequent cause of hospitalizationand associated to patient death. Treatment abandonment was also found to be a risk factor for death. Key words:hospitalization; systemic lupus erythematosus; risk factors

Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study / Polimorfismos do receptor toll-like 9 em pacientes brasileiros com lúpus eritematoso sistêmico: um estudo piloto

Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccoud's arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position −1237 with psychosis and anemia (p < 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p < 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.

Resumo O receptor Toll-like 9 (TLR9) é um componente importante do sistema imunológico inato e tem sido associado a várias doenças autoimunes, como o Lúpus Eritematoso Sistêmico (LES). O objetivo deste estudo foi investigar polimorfismos no gene TLR9 em um grupo de pacientes brasileiros com LES e sua associação com a manifestação clínica, particularmente a artropatia de Jaccoud (JA). Foram analisadas amostras de DNA de 204 pacientes com LES, e um subgrupo com JA (n=24). Um grupo de controle (n=133) da mesma cidade também foi incluído. Os polimorfismos de nucleotídeos únicos TLR9 (SNPs) (−1237 C>T e +2848 G>A) foram identificados pela análise de sequenciamento. A frequência do genótipo genético TLR9 foi semelhante tanto em pacientes com LES quanto no grupo controle. Em toda a população de LES, foi encontrada associação entre a homozigose do alelo C na posição −1237 com psicose e anemia (p < 0,01). Da mesma forma, a homozigose do alelo G na posição +2848 foi associada a uma erupção cutânea discoide (p < 0,05). Não houve associação entre polimorfismos JA e TLR9. Esses dados mostram que os polimorfismos TLR9 não parecem ser um fator predisponível para o LES na população brasileira, e que os SNPs não estão associados ao JA.

Recommendations for diagnosis and treatment of systemic lupus erythematosus / 中华内科杂志

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with complicated pathogenesis and diverse clinical manifestations. The current recommendations of the Chinese Rheumatology Association are based on a comprehensive investigation of evidence based medicine, domestic and international guidelines for SLE, and experts' proposals, and aim to provide a more scientific and authoritative reference for the diagnosis and management of SLE. The recommendations focus on four aspects; clinical manifestations, laboratory evaluation, diagnosis and disease assessment, and disease treatment and monitoring. The goal of the recommendations is to standardize the diagnosis and treatment of SLE in China so as to improve the prognosis of SLE patients.

Epidemiological study of incidence of systematic lupus erythematosus in Yinzhou, Ningbo, 2016-2021 / 中华流行病学杂志

Objective: To characterize the incidence density of systematic lupus erythematosus (SLE) in Yinzhou District of Ningbo from 2016 to 2021, and compare the age and gender specific differences. Methods: A retrospective cohort study was conducted based on the related data from 2015 to 2021 collected from the Health Information Platform of Yinzhou. Suspected SLE cases in local residents were identified by fuzzy matching of International Classification of Diseases 10th edition code "M32" or Chinese text "lupus". The classification criteria from Systemic Lupus International Collaboration Clinics-2012 and The European League Against Rheumatism/American College of Rheumatology-2019 were used for case verification. SLE cases were identified with specific algorithm based on verification results, and new cases were identified with 1 year as the washout period. The incidence density and 95%CI were estimated by Poisson distribution. Results: From 2016 to 2021, a total of 1 551 921 permanent residents were registered in Yinzhou, in whom 51.52% were women. The M(Q1,Q3) age at enrollment was 40.38 (27.54, 53.54) years. The M(Q1,Q3) of follow-up person-years was 3.83 (0.41, 5.83) years. There were 451 new SLE cases, in which 352 were women (78.05%). The 6-year incidence density was 8.14/100 000 person-years (95%CI: 7.41/100 000 person-years-8.93/100 000 person-years) for the total population, 3.68/100 000 person-years (95%CI: 2.99/100 000 person-years-4.48/100 000 person-years) for men and 12.37/100 000 person-years (95%CI: 11.11/100 000 person-years- 13.73/100 000 person-years) for women. The incidence density in men appeared a small peak at 20-29 years old, and began to increase with age from 40 years old. The incidence density in women was highest in age group 20-29 years (16.57/100 000 person-years) and remained to be high until 30-79 years old. The incidence density of SLE in Yinzhou show no significant temporal trend from 2016 to 2021 (men: P=0.848; women: P=1.000). Conclusions: The incidence density of SLE in Yinzhou from 2016 to 2021 was similar to those of other areas in China. SLE has a high incidence in women, especially in the young and elderly, suggesting that more attention should be paid to the diagnosis and treatment of SLE in women.

Associations between vitamin D levels and systemic lupus erythematosus risk:a Mendelian randomized study / 中华预防医学杂志

Objective: To explore the causal effects of the serum Vitamin D levels on the risk of systemic lupus erythematosus (SLE). Methods: A two-sample Mendelian randomization (MR) study was performed to infer the causality. Three Genome-wide association studies (GWAS) for circulating Vitamin D levels, including 25-hydroxyvitamin D [25(OH)D], 25-hydroxyvitamin D3 [25(OH)D3] and C3-epimer of 25-hydroxyvitamin D3 [C3-epi-25(OH)D3] published in 2020, and one GWAS for SLE published in 2015 were utilized to analyze the causal effects of the serum Vitamin D levels on the risk of SLE. MR analyses were conducted using the inverse-variance weighted method (IVW), weighted median, MR-Egger methods, MR-pleiotropy residual sum and outlier (MR-PRESSO) method. Results: 34, 29 and 6 SNPs were respectively selected as instrumental variables to analyze the causal association of total 25 (OH) D level, 25 (OH) D3 level and C3-epi-25 (OH) D3 level with the risk of SLE. The MR results showed that each standard deviation decrease in the level of 25(OH)D3 would result in 14.2% higher risk of SLE (OR, 0.858; 95%CI, 0.753-0.978; P=0.022). The levels of 25(OH)D and C3-epi-25(OH)D3 had null associations with risk of SLE (OR, 0.849; 95%CI, 0.653-1.104; P=0.222; OR, 0.904; 95%CI, 0.695-1.176; P=0.452). Conclusion: This study have identified a causal effect of 25(OH)D3 on increased risk of SLE. These findings highlighted the significance of active monitoring and prevention of SLE in population of low Vitamin D levels.

Control of lupus activity during pregnancy via the engagement of IgG sialylation: novel crosstalk between IgG sialylation and pDC functions / 医学前沿

Immunoglobulin (IgG) glycosylation affects the effector functions of IgG in a myriad of biological processes and has been closely associated with numerous autoimmune diseases, including systemic lupus erythematosus (SLE), thus underlining the pathogenic role of glycosylation aberration in autoimmunity. This study aims to explore the relationship between IgG sialylation patterns and lupus pregnancy. Relative to that in serum samples from the control cohort, IgG sialylation level was aberrantly downregulated in serum samples from the SLE cohort at four stages (from preconception to the third trimester of pregnancy) and was significantly associated with lupus activity and fetal loss during lupus pregnancy. The type I interferon signature of pregnant patients with SLE was negatively correlated with the level of IgG sialylation. The lack of sialylation dampened the ability of IgG to suppress the functions of plasmacytoid dendritic cells (pDCs). RNA-seq analysis further revealed that the expression of genes associated with the spleen tyrosine kinase (SYK) signaling pathway significantly differed between IgG- and deSia-IgG-treated pDCs. This finding was confirmed by the attenuation of the ability to phosphorylate SYK and BLNK in deSia-IgG. Finally, the coculture of pDCs isolated from pregnant patients with SLE with IgG/deSia-IgG demonstrated the sialylation-dependent anti-inflammatory function of IgG. Our findings suggested that IgG influences lupus activity through regulating pDCs function via the modulation of the SYK pathway in a sialic acid-dependent manner.

Systemic lupus erythematosus with acquired hemophilia A: A case report and literature review / 中南大学学报(医学版)

Systemic lupus erythematosus (SLE) complicated with acquired hemophilia A (AHA) is a rare condition with frequently delayed diagnosis and a high mortality rate, so it is necessary to strengthen the understanding of this disease. In this study, the characteristics and treatment in 1 case of SLE complicated by AHA is reported and analyzed, and a literature review is conducted. The patient was a 29-year-old young female with a 10-year history of SLE, the main clinical manifestation was severe abdominal bleeding. Laboratory tests revealed that the activated partial thromboplastin time (APTT) was notably prolonged (118.20 s), and the coagulation factor VIII activity (FVIII꞉C) was extremely decreased (0.20%) with high-titer of factor VIII (FVIII) inhibitor (31.2 BU/mL). After treating with high-dose glucocorticoid, immunoglobulin, cyclophosphamide, rituximab, blood transfusion, and intravenous infusion of human coagulation FVIII, the coagulation function and coagulation FVIII꞉C were improved, and FVIII inhibitor was negative without serious adverse reactions. During the next 5-year follow-up, the patient's condition was stable and no bleeding occurred. In the case of coagulation dysfunction in SLE, especially with isolated APTT prolongation, AHA should be screened. When the therapeutic effects of glucocorticoid combined with immunosuppressants are not desirable, rituximab could be introduced.

Expression and Clinical Significance of Serum sFas/sFasL in Patients with Secondary Hemophagocytic Lymphohistiocytosis / 中国实验血液学杂志

OBJECTIVE@#To investigate the expression and clinical significance of soluble Fas (sFas) and sFasL in patients with secondary hemophagocytic lymphohistiocytosis (sHLH).@*METHODS@#From September 2015 to December 2020, 86 sHLH patients who met the HLH2004 diagnostic criteria were collected. They were divided into 55 cases in the MAHLH group and 31 cases in the NonMAHLH group according to the etiology. Thirty healthy persons were chosen as the normal control group, and 20 patients with systemic lupus erythematosus (SLE) were chosen as the disease control group. The expression levels of sFas and sFasL in the serum of patients with each group were detected by ELISA, and the clinical data were collected for statistical analysis. The significance of sFas and sFasL in sHLH was analyzed by ROC curve.@*RESULTS@#Serum levels of sFas and sFasL in patients with newly diagnosed sHLH were significantly higher than those in disease control group and normal control group (P<0.01). The levels of sFas and sFasL in MAHLH group were significantly higher than those in nonMAHLH (infection related HLH and autoimmune disease related HLH) group (P<0.01). The serum levels of sFas and sFasL in 17 newly treated patients with sHLH (17/86) after treatment were significantly lower than those before treatment (P<0.01). The serum sFas level in newly diagnosed sHLH patients was positively correlated with SF(r=0.35), sCD25(r=0.79) and sFasL(r=0.73). The serum sFasL level was positively correlated with SF(r=0.39), sCD25(r=0.64) and sFas(r=0.73). Compared with the NonMAHLH group, the area under the ROC curve was 0.707 (95% CI: 0.593-0.821) (P=0.0015). The optimal critical value for diagnosing MAHLH by sFas level was 12 743 pg/ml, and the sensitivity and specificity were 70.9% and 71% respectively. Compared with the NonMAHLH group, the area under the ROC curve was 0.765(95% CI: 0.659-0.87)(P<0.01). The median OS time of sFas high expression group (≥16798.5 pg/ml) and sFasL high expression group (≥4 785 pg/ml) was significantly shorter than that of the low expression group (P<0.001).@*CONCLUSION@#Serum levels of sFas and sFasL can be used for the early diagnosis and differential diagnosis of sHLH disease, and are the factor related to the poor prognosis of sHLH.

Research progress on long-term developmental outcomes of offspring of pregnant women with systemic lupus erythematosus / 中国当代儿科杂志

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease that affects multiple organs and systems. It is more common in women of childbearing age. Compared with the general population, pregnant women with SLE are at a significantly increased risk of adverse perinatal outcomes such as preterm birth and intrauterine growth restriction. In addition, the offspring of SLE patients may also be adversely affected by in utero exposure to maternal autoantibodies, cytokines, and drugs. This article summarizes the long-term developmental outcomes of offspring of pregnant women with SLE in terms of the blood system, circulatory system, nervous system, and immune system.

The expression of autophagy-related proteins in peripheral blood mononuclear cells of patients with lupus nephritis is upregulated and related to kidney damage / 细胞与分子免疫学杂志

Objective To identify the relationship between nephritis activity, autophagy and inflammation in patients with SLE. Methods Western blot analysis was used to detect the expression of microtubule-associated protein 1 light chain 3 (LC3) and P62 in peripheral blood mononuclear cells (PBMCs) of SLE patients with lupus nephritis and non-lupus nephritis patients. Tumor necrosis factor α (TNF-α) and interferon γ (IFN-γ) in the serum of SLE patients were determined by ELISA. The correlation between LC3II/LC3I ratio and SLE disease activity score (SLEDAI), urinary protein, TNF-α and IFN-γ levels was analyzed by Pearson method. Results The expression of LC3 was increased and P62 was decreased in SLE patients. TNF-α and IFN-γ were increased in the serum of SLE patients. LC3II/LC3I ratio was positively correlated with SLEDAI (r=0.4560), 24 hour urine protein (r=0.3753), IFN-γ (r=0.5685), but had no correlation with TNF-α (r=0.04 683). Conclusion Autophagy is found in PBMCs of SLE, and the autophagy is correlated with renal damage and inflammation in patients with lupus nephritis.

Increased autophagy of peripheral blood neutrophils and neutrophils extracellular traps formation in systemic lupus erythematosus / 细胞与分子免疫学杂志

Objective To explore the role of autophagy, apoptosis of neutrophils and neutrophils extracellular traps (NET) formation in systemic lupus erythematosus (SLE). Methods Thirty-six patients with SLE were recruited as research subjects, and 32 healthy controls matched accordingly were enrolled as control subjects. The expression levels of microtubule associated protein 1 light chain 3B (LC3B), autophagy-related gene5(ATG5), P62, B-cell lymphoma 2(Bcl2), Bcl2-related X protein (BAX) in neutrophils were detected by Western blot analysis. Flow cytometry was employed to analyze the expression of LC3B on neutrophils. The expression level of myeloperoxidase(MPO) in plasma was estimated by ELISA. Furthermore, neutrophils were cultured in vitro and stimulated by 100 nmol/L rapamycin and 10 μg/mL lipopolysaccharide (LPS) for 6 hours, respectively. And then, the expression levels of LC3B, ATG5, P62, Bcl2 and BAX in neutrophils were detected by Western blot analysis. The level of MPO in culture supernatant was detected by ELISA. The change of fluorescence intensity of NET in culture supernatant was assayed by SytoxTM Green staining combined with fluorescence spectrophotometry. Results Compared with healthy controls, the levels of autophagy and apoptosis of neutrophils and NET formation in SLE patients were increased. The level of apoptosis and NET formation was positively associated with neutrophil autophagy. The level of autophagy showed an increase but had no effect on apoptosis and NET formation for neutrophil stimulated by rapamycin. The levels of autophagy and NET formation also increased with no significant effect on apoptosis for neutrophil induced by LPS. Conclusion The autophagy, apoptosis and NET formation of neutrophils increase in SLE patients. The activation of autophagy and NET in neutrophils possibly result from the inflammatory internal environment in SLE patients.

Analysis of incidence and clinical characteristics of osteonecrosis of femoral head in patients with systemic lupus erythematosus treated with glucocorticoid: A descriptive study based on a prospective cohort / 中国修复重建外科杂志

OBJECTIVE@#To describe the disease characteristics of osteonecrosis of the femoral head (ONFH) in patients with systemic lupus erythematosus (SLE) who experiencing prolonged glucocorticoid (GC) exposure.@*METHODS@#Between January 2016 and June 2019, 449 SLE patients meeting the criteria were recruited from multiple centers. Hip MRI examinations were performed during screening and regular follow-up to determine the occurrence of ONFH. The cohort was divided into ONFH and non-ONFH groups, and the differences in demographic baseline characteristics, general clinical characteristics, GC medication information, combined medication, and hip clinical features were compared and comprehensively described.@*RESULTS@#The age at SLE diagnosis was 29.8 (23.2, 40.9) years, with 93.1% (418 cases) being female. The duration of GC exposure was 5.3 (2.0, 10.5) years, and the cumulative incidence of SLE-ONFH was 9.1%. Significant differences ( P<0.05) between ONFH and non-ONFH groups were observed in the following clinical characteristics: ① Demographic baseline characteristics: ONFH group had a higher proportion of patients with body mass index (BMI)<20 kg/m 2 compared to non-ONFH group. ② General clinical characteristics: ONFH group showed a higher proportion of patients with cutaneous and renal manifestations, positive antiphospholipid antibodies (aPLs) and anticardiolipin antibodies, severe SLE patients [baseline SLE Disease Activity Index 2000 (SLEDAI-2K) score ≥15], and secondary hypertension. Fasting blood glucose in ONFH group was also higher. ③ GC medication information: ONFH group had higher initial intravenous GC exposure rates, duration, cumulative doses, higher cumulative GC doses in the first month and the first 3 months, higher average daily doses in the first 3 months, and higher proportions of average daily doses ≥15.0 mg/d and ≥30.0 mg/d, as well as higher full-course average daily doses and proportion of full-course daily doses ≥30.0 mg/d compared to non-ONFH group. ④ Combined medications: ONFH group had a significantly higher rate of antiplatelet drug use than non-ONFH group. ⑤ Hip clinical features: ONFH group had a higher proportion of hip discomfort or pain and a higher incidence of hip joint effusion before MRI screening than non-ONFH group.@*CONCLUSION@#The incidence of ONFH after GC exposure in China's SLE population remains high (9.1%), with short-term (first 3 months), medium-to-high dose (average daily dose ≥15 mg/d) GC being closely associated with ONFH. Severe SLE, low BMI, certain clinical phenotypes, positive aPLs, and secondary hypertension may also be related to ONFH.