Neurosarcoidosis: inicio con compromiso de múltiples sitios neurológicos / Neurosarcoidosis: Onset with involvement of multiple neurological sites

Resumen Presentamos el caso de una mujer joven sana, que consultó por parálisis facial periférica izquierda asociada a fiebre, tos seca, disnea y astenia de dos semanas de evolución. Al examen físico se evidenció hipoestesia en dermatomas D6 a D12 izquierdos y galactorrea bi lateral. En el laboratorio presentaba serologías virales negativas, eritrosedimentación, títulos de anticuerpos antinucleares, prolactina y hormona tiroestimulante elevados, con anticuerpos antiperoxidasa positivos. La tomografía computarizada mostró múltiples adenopatías cervicales, mediastinales e hiliares bilaterales, sin com promiso del parénquima pulmonar. El cultivo de líquido cefalorraquídeo fue negativo para gérmenes comunes, micobacterias (Xpert MTB/RIF), y la citología no mostró atipia. Se realizó una resonancia magnética con con traste endovenoso de cerebro sin hallazgos patológicos y de columna con alteración de la señal centromedular de D6 a D9 de casi la totalidad del espesor del cordón, con refuerzo con contraste endovenoso. Durante la in ternación recuperó la sensibilidad en tronco izquierdo y no repitió episodios febriles o tusígenos. Se realizó mediastinoscopía con biopsia ganglionar con anatomía patológica con presencia de numerosos granulomas no caseificantes compatibles con sarcoidosis. Se clasificó como neurosarcoidosis probable e inició tratamiento con corticoides con mejoría de los síntomas neurológi cos restantes, realizándose una resonancia magnética a los tres meses, donde la alteración de la señal se limitaba desde D7 a D8. Nuestro objetivo es destacar la presentación neurológica en múltiples sitios que obligó a descartar otras entidades más frecuentes, así como la evolución favorable incluso previo al inicio de un esquema de tratamiento de primera línea.

Abstract We present the case of a healthy young woman who consulted for left peripheral facial palsy associated with fever, dry cough, dyspnea, and asthenia of two weeks' evolution. Physical examination revealed hypoesthesia in left T6 to T12 dermatomes and bilateral galactorrhea. In the laboratory, she presented negative viral serology, elevated erythrocyte sedimentation rate, antinuclear an tibody titers, prolactin and thyroid-stimulating hormone, with positive antiperoxidase antibodies. Computed to mography showed multiple bilateral cervical, mediastinal, and hilar adenopathies, without involvement of lung parenchyma. Cerebrospinal fluid culture was negative for common germs, mycobacteria, and Xpert MTB/RIF, and cytology did not show atypia. Contrast-enhanced magnetic resonance was performed on the brain without pathological findings and on the spine with alteration of the centromedullary signal from T6 to T9 of almost the entire thickness of the cord, with posterior enhancement with gadolinium. During hospitalization, she recovered sensitivity in the left trunk and did not repeat febrile or cough episodes. She was referred to another center for mediastinoscopy with lymph node biopsy revealing the presence of numerous non-caseating granulomas compatible with sarcoidosis. It was classified as probable neurosarcoidosis and started treatment with corticoste roids with improvement of the remaining neurological symptoms. A magnetic resonance was performed three months later where the signal alteration was limited from T7 to T8. Our objective is to highlight the florid neu rological presentation that made it necessary to rule out other more frequent entities and the favorable evolution even before starting a first-line scheme of treatment.

Gastrointestinal and Hepatic Involvement in Primary Sjögren's Syndrome: Case Report and Literature Review

Sjögren's syndrome is a systemic autoimmune disease characterized by dry eyes and mouth due to the involvement of exocrine glands. However, it can manifest with GI symptoms that cover a broad spectrum from esophageal and intestinal dysmotility, achalasia, hypochlorhydria, and chronic atrophic gastritis to pancreatic enzyme deficiency, biliary dysfunction, and liver cirrhosis, which varies in its clinical manifestations and is often associated with erroneous approaches. This article reviews the GI manifestations of Sjögren's syndrome. It presents the case of a woman in her eighth decade of life with this syndrome. She showed asymptomatic hepatobiliary disease, documented abnormalities in liver profile tests, and a subsequent diagnosis of primary sclerosing cholangitis, for which she received initial treatment with ursodeoxycholic acid. During her condition, the patient has had three episodes of cholangitis, requiring endoscopic retrograde cholangiopancreatography with no findings of stones, with scant biliary sludge and discharge of purulent bile precipitated by her underlying liver disease. The association between Sjögren's syndrome and primary sclerosing cholangitis is rare and calls for special consideration.

El síndrome de Sjögren es una enfermedad autoinmune sistémica que se caracteriza por la sequedad ocular y bucal debido a la afección de glándulas exocrinas; sin embargo, puede manifestarse con síntomas gastrointestinales que abarcan un espectro amplio desde la dismotilidad esofágica e intestinal, acalasia, hipoclorhidria y gastritis crónica atrófica hasta enzimodeficiencia pancreática, disfunción biliar y cirrosis hepática, que tiene variación en sus manifestaciones clínicas y se asocia con abordajes erróneos en muchas ocasiones. En este artículo se hace una revisión acerca de las manifestaciones gastrointestinales de síndrome de Sjögren y se presenta el caso de una mujer en la octava década de la vida con este síndrome, que cursa con enfermedad hepatobiliar asintomática, documentación de alteración en pruebas de perfil hepático y diagnóstico ulterior de colangitis esclerosante primaria, por lo que recibió un tratamiento inicial con ácido ursodesoxicólico. Durante el curso de su enfermedad ha presentado 3 episodios de colangitis, con requerimiento de colangiopancreatografía retrógrada endoscópica sin hallazgos de cálculos, con escaso barro biliar y salida de bilis purulenta, precipitada por su enfermedad hepática de base. La asociación entre el síndrome de Sjögren y la colangitis esclerosante primaria es infrecuente y justifica una consideración especial.

Esclerosis sistémica sine esclerodermia en una mujer con anticuerois antinucleares centroméricos, afectación pulmonar y digestiva: reporte de caso

Las entidadessineson poco comunes en reumatología. En la esclerosis sistémica progresiva, hay una variante de la forma cutánea limitada llamada esclerosis sistémicasineesclerodermia, cuya característica central es la falta de afectación cutánea, pero compromiso visceral presente. La positividad a los anticuerpos antitopoisomerasa o anticentromérico confirman el diagnóstico. El caso de este estudio es una mujer de 63 años con enfermedad intersticial pulmonar, afectación del tránsito intestinal y fenómeno de Raynaud, con ANA a títulos elevados con patrón centromérico y positividad para anticuerpos antitopoisomerasa. Ante un paciente con fenómeno de Raynaud, afectación visceral y ANA elevado, se le debe pedir anticuerpos específicos para diagnóstico de esclerosis sistémica en su variedadsine.

Sine entities are rare in rheumatology. In progressive systemic sclerosis there is a variant of the limited cutaneous form called systemic sclerosis sine scleroderma, whose central feature is the lack of skin involvement, but visceral involvement is present. Positive anti-topoisomerase or anti-centromere antibodies confirm the diagnosis. We present the case of a 63-year-old woman with interstitial lung disease, intestinal transit involvement and Raynaud's phenomenon, with high titers of ANA with a centromeric pattern and positivity for anti-topoisomerase antibodies. When faced with a patient with Raynaud's phenomenon, visceral involvement and elevated ANA, specific antibodies should be requested for the diagnosis of systemic sclerosis in its sine variety.

Prevalencia de anticuerpos antinucleares en médicos residentes aparentemente sanos del Hospital de Clínicas, San Lorenzo

RESUMEN Introducción: los anticuerpos antinucleares son muy utilizados en la práctica médica como marcadores de autoinmunidad y en el diagnóstico de enfermedades autoinmunes. Sin embargo, estos anticuerpos son la expresión de otros trastornos más allá de las colagenopatías e incluso pueden estar presentes en la población aparentemente sana sin representar un riesgo para la salud de estos en el futuro. Objetivo: determinar la prevalencia de anticuerpos antinucleares en médicos residentes aparentemente sanos del Hospital de Clínicas, San Lorenzo, en el año 2021. Material y métodos: se realizó un estudio descriptivo prospectivo y transversal en 150 médicos residentes aparentemente sanos en el Hospital de Clínicas de la ciudad de San Lorenzo, Paraguay, en el periodo de junio a septiembre de 2021. Se determinaron los anticuerpos antinucleares tipo inmunoglobulina G mediante inmunofluorescencia indirecta en células HEp-2. Resultados: la prevalencia de anticuerpos antinucleares fue 11,3%. La mayoría de los sujetos con resultados positivos fueron mujeres (76,5%, p<0,05). Las titulaciones más frecuentes fueron 1:80 y 1:160 por igual (35,3% cada una) y entre los sujetos reactivos el patrón nuclear granular fino denso (AC2) fue el más prevalente (52,9%). Conclusión: la prevalencia de anticuerpos nucleares fue 11,3%, la mayor frecuencia se vio en mujeres, las titulaciones más comunes fueron 1:80 y 1:160 y el patrón más habitual fue el nuclear granular fino denso.

ABSTRACT Introduction: Antinuclear antibodies are widely used in medical practice as autoimmunity markers and in the diagnosis of autoimmune diseases. However, these antibodies are the expression of other disorders beyond collagenopathies and may even be present in the apparently healthy population without representing a risk to their health in the future. Objective: To determine the prevalence of antinuclear antibodies in apparently healthy residents of the Hospital de Clínicas, San Lorenzo, in 2021. Material and methods: A descriptive, prospective and cross-sectional study was carried out in 150 apparently healthy resident physicians at the Hospital de Clínicas in the city of San Lorenzo, Paraguay, from June to September 2021. Immunoglobulin G-type antinuclear antibodies were determined using Indirect immunofluorescence in HEp-2 cells. Results: The prevalence of antinuclear antibodies was 11.3%. Most of the subjects with positive results were women (76.5%, p <0.05). The most frequent titrations were 1:80 and 1:160 equally (35.3% each) and among the reactive subjects the nuclear dense fine speckled pattern (AC2) was the most prevalent (52.9%). Conclusion: The prevalence of nuclear antibodies was 11.3%, the highest frequency was seen in women, the most common titers were 1:80 and 1: 160 and the most common pattern was the nuclear dense fine speckled.

The influence of demography and referral medical specialty on the detection of autoantibodies to HEP-2 cells in a large sample of patients

Abstract Background: The prevalence of anti-cell autoantibodies detected by indirect immunofluorescence assay on HEp-2 cells (HEp-2-IIFA) increases with age and is higher in female sex. The number of medical specialties that use HEp-2-IIFA in the investigation of autoimmune diseases has increased lately. This study aimed to determine the prevalence and patterns of autoantibodies on HEp-2-IIFA according to demographics variables and referring medical specialties. Methods: A retrospective analysis of the HEp-2-IIFA carried out between January and June of 2017 was performed. The International Consensus on Antinuclear Antibodies Patterns (ICAP) and the Brazilian Consensus on Autoantibodies were used for patterns definition on visual reading of the slides. Anti-cell (AC) codes from ICAP and Brazilian AC codes (BAC) were used for patterns classification. Results: From 54,990 samples referred for HEp-2-IIF testing, 20.9% were positive at titer ≥ 1/80. HEp-2-IIFA positivity in females and males was 24% and 12%, respectively ( p < 0.0001). The proportion of positive results in the 4 age groups analyzed: 0-19, 20-39, 40-59, and ≥ 60 years was 23.3, 20.2, 20.1, and 22.8%, respectively ( p < 0.0001). Considering all positive sera (n = 11,478), AC-4 nuclear fine speckled (37.7%), AC-2 nuclear dense fine speckled (21.3%), BAC-3 nuclear quasi -homogeneous (10%) and mixed/composite patterns (8.8%) were the most prevalent patterns. The specialties that most requested HEp-2-IIFA were general practitioner (20.1%), dermatology (15%), gynecology (9.9%), rheumatology (8.5%), and cardiology (5.8%). HEp-2-IIFA positivity was higher in patients referred by rheumatologists (35.7% vs. 19.6%) ( p < 0.0001). Moderate (46.4%) and high (10.8%) titers were more observed in patients referred by rheumatologists ( p < 0.0001). We observed a high proportion of mixed and cytoplasmic patterns in samples referred by oncologists and a high proportion of BAC-3 (nuclear quasi -homogeneous) pattern in samples referred by pneumologists. Conclusions: One-fifth of the patients studied were HEp-2-IIFA-positive. The age groups with more positive results were 0-19 and ≥ 60 years. AC-4, AC-2, BAC-3 and mixed/composite patterns were the most frequent patterns observed. Rheumatologists requested only 8.5% of HEp-2-IIFA. Positive results and moderate to high titers of autoanti-bodies were more frequent in patients referred by rheumatologists.

Taponamiento cardiaco en paciente embarazada que inicia con lupus eritematoso sistémico. Reporte de caso y revisión de la bibliografía / Cardiac tamponade on a pregnant patient as the initial presentation of systemic lupus erythematosus. Case Report and literature review

Resumen ANTECEDENTES: El lupus eritematoso sistémico es una enfermedad autoinmunitaria y multisistémica. El daño pericárdico es la complicación cardiaca más común y el taponamiento cardiaco es infrecuente, más aún en embarazadas y con lupus eritematoso sistémico. OBJETIVO: Exponer las características clínicas, diagnósticas, tratamiento y evolución del taponamiento cardiaco en una embarazada que inició con lupus eritematoso sistémico y valorar la información de la bibliografía a propósito de otros casos. CASO CLÍNICO: Paciente de 24 años, con 27.5 semanas de embarazo, con anasarca, disnea que evolucionó a ortopnea y dolor torácico punzante de tres semanas de evolución. La radiografía de tórax mostró cardiomegalia grado II, campos pulmonares congestivos y derrame pleural a la altura de los senos cardiofrénicos. En el ecocardiograma se encontró derrame pericárdico de 500 mL, con datos de taponamiento cardiaco. Tuvo deterioro progresivo con afectación de la capacidad pulmonar e insuficiencia renal aguda con aumentos progresivos de creatinina; se encontró hemodinámica inestable, con pulso paradójico e hipotensión. Anticuerpos antinucleares positivos y proteinuria. La biopsia renal reportó patrones histopatológicos correspondientes a nefritis lúpica. Se trató con pulsos esteroideos y ciclofosfamida por vía intravenosa. El derrame pericárdico desapareció por medio de una ventana subxifoidea y la extracción del líquido del pericardio. La evolución posterior fue satisfactoria para la madre y su hijo. CONCLUSIÓN: El taponamiento cardiaco es infrecuente en pacientes con lupus eritematoso sistémico y más raro aún durante el embarazo. Es una urgencia clínica que requiere atención multidisciplinaria porque el embarazo, en una paciente con lupus eritematoso sistémico, implica mayor riesgo de complicaciones sistémicas, como se señala en la bibliografía.

Abstract BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic, multisystemic disease of unknown etiology, whose clinical manifestations are heterogeneous. Pericardial involvement is the most common cardiac complication; however, the development of cardiac tamponade is rare, and even more so in pregnant patients presenting with SLE. OBJECTIVE: To present the clinical characteristics, diagnosis, treatment, and evolution of cardiac tamponade in a pregnant patient that presents with systemic lupus erythematosus. CLINICAL CASE: A 24-year-old patient, who is 27.5 weeks pregnant, presenting with anasarca, dyspnea that evolved to orthopnea and stabbing chest pain for three weeks. Her chest X-ray showed cardiomegaly grade II, congestive lung fields and pleural effusion at the level of cardiophrenic sinuses. The echocardiogram found a 500 mL pericardial effusion with evidence of cardiac tamponade. Progressive deterioration with compromised lung capacity, and the appearance of acute renal failure with progressive increases in creatinine; showing hemodynamic instability characterized by paradoxical pulse and hypotension. With positive Antinuclear Antibodies (ANA) and proteinuria, renal biopsy reports histopathological patterns corresponding to lupus nephritis, treated with steroid pulses and intravenous cyclophosphamide in a risk-benefit assessment, with subsequent satisfactory maternal-fetal evolution. CONCLUSION: Cardiac tamponade is not common in patients with SLE, and it is even rarer as the initial manifestation, even more so during pregnancy. It is a clinical emergency and requires multidisciplinary management since pregnancy in a patient with SLE implies an increased risk of systemic complications.

Frecuencia de patrones de anticuerpos antinucleares, en pacientes con sospecha de enfermedades sistémicas reumáticas autoinmunes / Frequency of antinuclear antibodies patterns in patients with suspected of systemic autoimmune rheumatic diseases / Frequência de Padrões de anticorpo antinucleares em pacientes com suspeita de doenças sistêmicas reumáticas autoimunes / Fréquence des profils d'anticorps antinucléaires dans les cas de suspicion de maladies rhumatismales auto-immunes systémiques

Resumen Objetivo: El objetivo de este trabajo es describir la frecuencia de los patrones de tinción de Anticuerpos antinucleares (ANA), en pacientes con sospecha de enfermedades autoinmunes, en el sureste mexicano. Materiales y métodos: Se emplearon células Hep-2 y anticuerpo anti-IgG acoplado a FITC (EuroimmunTM) para el análisis de las muestras a través de inmunofluorescencia indirecta. Resultados: Del total de los pacientes, 89 fueron mujeres (87.2%) y 13 hombres (12.7%), en edades de 2 a 88 años. Se observó que 85 muestras (70.6 %) correspondieron al patrón nuclear, 10 (9.8 %) al patrón citoplasmático y 7 (6.8 %) al patrón mitótico. De los patrones nucleares, 37 (36.8%), 17 (16.7%) y 12 (11.8%) correspondieron a patrones homogéneo, granular fino y granular grueso respectivamente. Conclusiones: En este trabajo se observó, que la mayor frecuencia de anticuerpos antinucleares se encontró en pacientes en edad productiva. Los patrones más observados fueron el homogéneo, granular fino y granular grueso. El patrón homogéneo se asocia a LES cuando se presenta en títulos altos.

Abstract Objective: The objective of this work was to describe the frequency of antinuclear antibody (ANA) staining patterns in patients with suspected autoimmune diseases in southeastern Mexico. Materials and methods: Hep2 cells and Anti-Human IgG coupled to FITC (EuroimmunTM) were used for analyzing samples through indirect immunofluorescence. Results: 87.2 % per cent (89) of the total number of patients were women and 12.7 % were men (13) aged from 2 to 88 years. It was observed that 85 samples (70.6%) corresponded to the nucleolar pattern, 10 (9.8%) to the cytoplasmic pattern and 7 (6.8%) to the mitotic pattern. Of the nuclear patterns, 37 (36.8%), 17 (16.7%) and 12 samples (11.8%) corresponded to homogeneous, nuclear fine speckled and nuclear coarse speckled patterns respectively. Conclusions: In this work, it was observed that the highest frequency of antinuclear antibodies was found in patients of productive age. The most observed patterns were the homogeneous, nuclear fine speckled and nuclear coarse speckled. The homogeneous pattern is associated with SLE when presented in high titers.

Resumo Objetivo: deste trabalho é descrever a frequência dos padrões de coloração de anticorpos antinucleares (ANA) em pacientes com suspeita de doenças autoimunes no sudeste mexicano. Materiais e métodos: células Hep-2 e anticorpo anti-IgG acoplado a FITC (EuroimmunTM) foram utilizados para a análise das amostras por imunofluorescência indireta. Resultados: Do total de pacientes, 89 eram mulheres (87,2%) e 13 homens (12,7%), com idade entre 2 e 88 anos. Observou-se que 85 amostras (70,6%) corresponderam ao padrão nuclear, 10 (9,8%) ao padrão citoplasmático e 7 (6,8%) ao padrão mitótico. Dos padrões nucleares, 37 (36,8%), 17 (16,7%) e 12 (11,8%) corresponderam aos padrões homogêneo, granular fino e granular grosso, respectivamente. Conclusões: Neste trabalho observou-se que a maior frequência de anticorpos antinucleares foi encontrada em pacientes em idade produtiva. Os padrões mais observados foram homogêneo, granular fino e granular grosso. O padrão homogêneo está associado ao LES quando ocorre em altos títulos.

Résumé Objectif : L'objectif de ce travail est de décrire la fréquence des profils de coloration des Anticorps Antinucléaires (ANA), dans les cas de suspicion de maladies auto-immunes, dans le sud-est du Mexique. Matériels et méthodes : Des cellules Hep-2 et un anticorps anti-IgG couplé au FITC (EuroimmunTM) ont été utilisés pour l'analyse desé chantillons par immunofluorescence indirecte. Résultats : Sur le total des patients, 89 étaient des femmes (87,2 %) et 13 des hommes (12,7 %), tous âgés de 2 à 88 ans. Il a été observé que 85 échantillons (70,6 %) correspondaient au patron nucléaire, 10 (9,8 %) au patron cytoplasmique et 7 (6,8 %) au patron mitotique. Parmi es patrons nucléaires, 37 (36,8%), 17 (16,7%) et 12 (11,8%) avaient respectivement un aspect homogène, moucheté à grains fins et moucheté à gros grains. Conclusions : Dans travail, il a été observé que la fréquence la plus élevée d'anticorps antinucléaires a été trouvée chez les patients en âge productif. Les aspects les plus observés ont été de type homogène, moucheté à grains fins et moucheté à gros grains. L'aspect homogène est associé à l'ELS lorsqu'il est présenté en titres élevés.

A Curious Case of Diffuse Systemic Sclerosis with Discoid Lupus Erythematosus-Like Lesions: Enigma of an Overlap

@#Overlap syndrome is a term used to describe a condition wherein a patient has features of more than one classic inflammatory rheumatic disease like systemic lupus erythematosus, polymyositis, scleroderma and rheumatoid arthritis. Individuals with an overlap syndrome may, but need not meet, complete diagnostic criteria for one or more than one classic rheumatic disease. Mixed connective tissue disease is a specific subset of overlap syndrome wherein patients have antibodies to the U1 small nuclear ribonuclear protein (anti- U1RNP) and clinical features like hand edema, synovitis, Raynaud phenomenon, acrosclerosis and biologically or histologically proven myositis. We came across an interesting case showing clinical features of both Systemic Sclerosis and Discoid Lupus erythematosus (DLE). On complete evaluation, a final diagnosis of Diffuse Systemic Sclerosis - DLE overlap was made on the basis of histopathopathological and serological findings. Patient was started accordingly on systemic and topical medications and responded well.

Niveles de anticuerpos anti nucleares por Fana y Ana-Lia en pacientes con enfermedades reumáticas sistémicas / Levels of anti-nuclear antibodies by Fana and Ana-Lia in systemic rheumatic diseases patients

Objetivo: Correlacionar los niveles de anticuerpos antinucleares obtenidos por las técnicas de inmunofluorescencia indirecta (FANA) e inmunoensayo lineal (ANA-LIA) en pacientes diagnosticados o con sospecha clínica de enfermedad autoinmune. Métodos: Se incluyeron 100 pacientes que dieron su consentimiento informado para participar en el estudio. Los ensayos e interpretación de los resultados de las pruebas de FANA y ANA-LIA se realizaron siguiendo las recomendaciones del fabricante. Resultados: el 97,4% de los pacientes estudiados eran de sexo femenino con edad promedio de 42 años, siendo la Artritis reumatoide, Poliartritis y Lupus Eritematoso Sistémico las enfermedades que con mayor frecuencia acompañaron la solicitud médica. Se observó que ambos métodos fueron positivos en el 21% de los casos y que el indice de correlaciòn de Kappa entre las pruebas fue moderado (k= 0,51; p< 0,05), la sensibilidad y especificidad de los métodos fue del 71,4% y 84,8% respectivamente, se observó también que para un determinado patrón fluorescente puede haber positividad de más de un antígeno de la prueba de ANA-LIA y viceversa. Conclusiones: FANA es el método de tamizaje aceptado en la práctica clínica para orientar hacia un diagnóstico clínico de enfermedad autoinmune más probable, debido a la subjetividad en la interpretación de sus resultados y necesidad de entrenamiento en la identificación de los patrones fluorescentes, se requiere del apoyo de otros métodos de laboratorio que permitan identificar con mayor precisión los antígenos reconocidos por los autoanticuerpos, ANA-LIA es una herramienta de laboratorio costo-efectiva de elevada sensibilidad y especificidad que se ajusta a este requerimiento.

Objective: To correlate levels of antinuclear antibodies obtained by indirect immunofluorescence techniques (FANA) and linear immunoassay (ANA-LIA) in patients diagnosed or with clinical suspicion of autoimmune disease. Methods: 100 patients who gave their informed consent to participate in the study were included. Assays and interpretation of results of FANA and ANA-LIA test were performed following the manufacturer's recommendations. Results: 97,4% of the patients studied were female with an average age of 42 years, being rheumatoid arthritis, polyarthritis and systemic lupus erythematosus the diseases that most frequently accompanied the medical request. It was observed that both methods were positive in 21% of the cases and that the Kappa correlation index was moderate between the tests (k = 0,51; p <0,05), the sensitivity and specificity of the methods was 71,4% and 84,8% respectively. It was also observed that for a given fluorescent pattern there may be positivity of more than one antigen of the ANA-LIA test and vice versa. Conclusions: FANA is the screening method accepted in the clinical practice to guide towards a more probable clinical diagnosis of autoimmune disease. Due to the subjectivity in the interpretation of its results and the need for training in the identification of fluorescent patterns, the support of other laboratory methods that allow the identification of antigens recognized by autoantibodies with greater precision is necessary, ANA-LIA is a cost-effective laboratory tool of high sensitivity and specificity that meets this requirement.

Antiphospholipid and Antinuclear Antibodies in Children with Idiopathic Epilepsy: A 2-Year Prospective Study

Correlation Of Indirect Immnofluorescence Patterns On Hep2000 With Anti Ds Dna Levels In Patients With Sle

Background: Antinuclear antibody (ANA) detection is very useful in the diagnosis of systemic lupus erythematosus (SLE). Association of specific autoantibodies with the immunofluorescence pattern of ANA in SLE as noted in Western medical literature has been taken as reference all over the world. However, in developing countries like India such research or data correlating the autoantibodies and their ANA Indirect Immunofluorescence patterns is inadequate. Objective: To identify the correlation between Indirect immunofluorescence patterns of antinuclear antibody on HEp–2 cell and serum levels of anti– double stranded DNA (anti–dsDNA) in SLE patients. Material and Methods: Serum samples of 108 SLE patients who were diagnosed by ACR (American College of Rheumatology) classification criteria, attending Rheumatology OPD of a tertiary care hospital during the study period of six months were subjected for ANA testing by Indirect Immunofluorescence (IIF) on HEp–2 cell and anti–dsDNA levels by ELISA. Results: Out of 108 SLE patients who were all positive by ANA in IIF on HEp–2 cell – exhibited predominantly two fluorescent patterns such as homogeneous in 80 (74%) and speckled 28 (26%) and in those with suspected flare–up homogeneous pattern was strongly associated with anti–dsDNA (p<0.05) and speckled pattern was also predominantly associated with anti–dsDNA (p<0.05). Conclusion: In SLE patients showing either homogeneous or speckled pattern in ANA IIF with suspected flare–up had elevated anti–dsDNA levels

A quantitative enzyme-linked immunosorbent assay (ELISA) for the detection of anti-double-stranded DNA IgG antibodies / Reação imunoenzimática (ELISA) quantitativa para detecção de anticorpos IgG anti-DNA de dupla hélice

ABSTRACT Introduction: The detection of anti-double-stranded (ds) deoxyribonucleic acid (DNA) antibodies is one of the classification criteria for diagnosing systemic lupus erythematosus (SLE). Objective: To describe a quantitative enzyme-linked immunosorbent assay (ELISA) for detecting anti-dsDNA immunoglobulin class G (IgG) antibodies. Methods: The performance of ELISA was evaluated using the Crithidia luciliae indirect immunofluorescence test (CLIFT) as a reference. Anti-dsDNA IgG antibodies were screened by ELISA and CLIFT in serum samples from 127 patients with SLE, 56 patients with other diseases and 37 healthy persons. The Cochran Q test was used to compare the sensitivity and specificity of the reactions, with differences among the results being considered significant when p ≤ 0.05. Results: ELISA had a sensitivity of 92.9% and a specificity of 94.6%, whereas the sensitivity and specificity of CLIFT were 85.8% and 100%, respectively. ELISA was significantly more sensitive than CLIFT (p = 0.0027), whereas CLIFT was significantly more specific than ELISA (p = 0.0253). Conclusion: ELISA showed excellent results in terms of sensitivity and specificity, with a potential use in research and routine diagnostics.

RESUMEN Introducción: La detección de anticuerpos contra el ácido desoxirribonucleico (ADN) de doble cadena (dc) es uno de los criterios de clasificación para el diagnóstico de lupus eritematoso sistémico (LES). Objetivo: Describir una técnica inmunoenzimática (ELISA) cuantitativa para detección de anticuerpos de inmunoglobulina de clase G (IgG) anti-ADNdc. Métodos: Se evaluó el desempeño de la técnica ELISA mediante el test inmunofluorescencia indirecta con Crithidia luciliae (IFI-CL) como referencia. Anticuerpos IgG anti-ADNdc fueron analizados por ELISA y IFI-CL en muestras de sueros de 127 pacientes con LES, 56 pacientes con otras enfermedades y 37 personas sanas. La prueba Q de Cochran fue utilizada para comparar la sensibilidad y la especificidad de las reacciones considerando diferencias significantes entre los tests cuando p ≤ 0,05. Resultados: La técnica ELISA mostró sensibilidad del 92,9% y especificidad del 94,6%, mientras la sensibilidad y la especificidad de la técnica IFI-CL fueron del 85,8% y 100%, respectivamente. La técnica ELISA mostró sensibilidad significativamente mayor que la obtenida con IFI-CL (p = 0,0027); esta mostró especificidad significativamente mayor que la obtenida con ELISA (p = 0,0253). Conclusión: La técnica ELISA presentó resultados excelentes de sensibilidad y especificidad, con el potencial de ser utilizada en investigación y rutina diagnóstica.

RESUMO Introdução: A detecção de anticorpos contra o ácido desoxirribonucleico (DNA) nativo (ds) é um dos critérios de classificação para o diagnóstico do lúpus eritematoso sistêmico (LES). Objetivo: Descrever uma técnica imunoenzimática enzyme-linked immunosorbent assay (ELISA) quantitativa para a detecção de anticorpos imunoglobulina da classe G (IgG) anti-DNAds. Métodos: O desempenho da técnica ELISA foi avaliado utilizando o teste de imunofluorescência indireta com Crithidia luciliae (CLIFT) como referência. Anticorpos IgG anti-DNAds foram pesquisados por ELISA e CLIFT em amostras de soros de 127 pacientes com LES, 56 pacientes com outras doenças e 37 indivíduos sadios. O teste Q de Cochran foi utilizado para comparar as sensibilidades e as especificidades das reações, considerando diferenças significantes entre os testes quando p ≤ 0,05. Resultados: A técnica ELISA apresentou sensibilidade de 92,9% e especificidade de 94,6%, enquanto a sensibilidade e a especificidade da técnica CLIFT foram de 85,8% e 100%, respectivamente. A técnica ELISA apresentou sensibilidade significativamente maior do que a obtida com a técnica CLIFT (p = 0,0027); esta apresentou especificidade significativamente maior do que a obtida com a técnica ELISA (p = 0,0253). Conclusão: A técnica ELISA apresentou excelentes resultados em termos de sensibilidade e especificidade, podendo ser útil em pesquisa e rotina diagnóstica.

V Brazilian consensus guidelines for detection of anti-cell autoantibodies on hep-2 cells

Abstract Background: The V Brazilian Consensus for determination of autoantibodies against cellular constituents on HEp-2 cells, held in Brasilia (DF, Brazil) on August 27, 2016, discussed the harmonization between the Brazilian Consensus on ANA (BCA) guidelines and the International Consensus on ANA Patterns (ICAP) recommendations (www.anapatterns.org). Initial guidelines were formulated by the group of Brazilian experts with the purpose of guiding and enabling Brazilian clinical laboratories to adopt recommendations and to provide a common standard for national and international consensuses. Mainbody: Twenty Brazilian researchers and experts from universities and clinical laboratories representing the various geographical regions of the country participated in the meeting. Three main topics were discussed, namely the harmonization between the BCA guidelines and latest recommendations of the ICAP initiative, the adjustment of the terminology and report on HEp-2 patterns, and a reassessment of quality assurance parameters. For the three topics, our aim was to establish specific guidelines. All recommendations were based on consensus among participants. There was concrete progress in the adjustment of the BCA guidelines to match the ICAP guidelines. To a certain extent, this derives from the fact that ICAP recommendations were largely based on the algorithm and recommendations of the IV Brazilian ANA Consensus, as consistently recognized in the ICAP publications and presentations. However, although there is great overlap between the two Consensuses, there are some point divergences. These specific items were individually and extensively discussed, and it was acknowledged that in several points ICAP improved recommendations previously issued by the Brazilian ANA Consensus and these changes were readily implemented. Regarding some specific topics, the BCA panel of experts felt that the previously issued recommendations remained relevant and possibly will require further discussion with ICAP. The term anti-cell antibodies was adopted as the recommended designation, recognizing that the assay addresses antibodies against antigens in the nucleus and in other cell compartments. However, the acronym ANA HEp-2 was maintained due to historical and regulatory reasons. It was also signalized that the latest trend in ICAP is to adopt the term Indirect Immunofluorescent Assay on HEp-2 cell substrate (HEp-2 IIFA). In addition, the quality assurance strategies previously presented were ratified and emphasized. Conclusion: The V BCA edition was successful in establishing an overall harmonization with the ICAP recommendations for interpretation of the HEp-2 IIFA test, pinpointing the perspectives in filling the remaining gaps between both initiatives.

Optimización del algoritmo diagnóstico de anticuerpos antinucleares / Optimization of the diagnostic algorithm of antinuclear antibodies

Introducción: La prueba de anticuerpos antinucleares es una poderosa herramienta en el diagnóstico de las enfermedades reumáticas. Los anticuerpos antinucleares se determinan en el laboratorio por un algoritmo o secuencia que se inicia con prueba de cribado y sigue con la identificación de las especificidades antinucleares más comunes. Pero, ¿cómo interpretar los resultados discordantes entre los dos niveles de estudio de anticuerpos antinucleares? Objetivo: Determinar las especificidades antinucleares menos frecuentes en pacientes positivos de cribado de ANA y negativos de las especificidades más comunes. Métodos: Estudio prospectivo de 88 pacientes consecutivos remitidos para la detección rutinaria de ANA con resultado positivo de cribado por ensayo inmuno-adsorbente ligado a enzima (ELISA) pero negativo de anticuerpos anti-ADN de doble cadena (dc, IgG) y anti-antígenos nucleares extraíbles comunes (ENAc). Las muestras séricas correspondientes fueron evaluadas por inmunofluorescencia indirecta sobre células de carcinoma epidermoide laríngeo humano (IFI-HEp-2) y por ELISA para la detección individual de ANA específicos. Resultados: La prueba de ANA por IFI/HEp-2 resultó positiva en 56/88 (63,6 por ciento) y las especificidades antinucleares se detectaron en 57/88 (64,8 por ciento) muestras, en el orden decreciente de Anti-Nucs: 16/88 (18,2 por ciento); anti-centrómero (CENP-B): 15/88 (17,0 por ciento); -histona: 15/88 (17 por ciento); -PM/Scl: 13/88 (14,8 por ciento); -ADNsc: 11/88 (12,5 por ciento) y -ENAc individuales: 8/88 (9,1 por ciento). La sensibilidad de la IFI-HEp-2 para las especificidades antinucleares fue de 0,83 (IC95 por ciento: 0,72-0,93). De los pacientes negativos de subserología (26/31), 83,9 por ciento no tenían antecedentes de enfermedad reumática asociada a ANA. Conclusiones: La mayoría de los pacientes con resultados discordantes entre el primer y segundo nivel de ANA fueron positivos de especificidades antinucleares menos comunes, pero de reconocido valor diagnóstico(AU)

Introduction: The antinuclear antibody test is a powerful tool for diagnosing rheumatic diseases. Antinuclear antibodies are determined in the laboratory by an algorithm or sequence that starts with a screening test and continues with the identification of the most common antinuclear specificities. But how to interpret the discordant results between the two levels of study of antinuclear antibodies? Objective: To determine the less frequent antinuclear specificities in positive patients of ANA screening and negative of the most common specificities. Methods: A prospective study was done on 88 consecutive patients referred for the routine ANA screening with a positive result of screening by enzyme-linked immunosorbent assay (ELISA) but negative for anti-double-stranded DNA (dc, IgG) and common extractable anti-nuclear antigens (ENAc). The corresponding serum samples were evaluated by indirect immunofluorescence on human laryngeal epidermoid carcinoma cells (IFI-HEp-2) and by ELISA for the individual detection of specific ANA. Results: The ANA test by IFI / HEp-2 was positive in 56/88 (63.6 percent) and the antinuclear specificities were detected in 57/88 (64.8 percent) samples, in decreasing Anti-Nucs order: 16/88 (18.2 percent); anti-centromere (CENP-B): 15/88 (17.0 percent); -histona: 15/88 (17 percent); -PM / Scl: 13/88 (14.8 percent); -ADNsc: 11/88 (12.5 percent) and -ENAc individual: 8/88 (9.1 percent). The sensitivity of IFI-HEp-2 for antinuclear specificities was 0.83 (95 percent CI: 0.72-0.93). No history of rheumatic disease associated with ANA was read in (26/31) 83.9 percent patients with negative subserology. Conclusions: The majority of patients with discordant results between the first and second level of ANA were positive of less common antinuclear specificities, but of recognized diagnostic value(AU)

Características de la videocapilaroscopia del lecho ungular y de los anticuerpos antinucleares en una cohorte de pacientes con enfermedad autoinmune sistémica con fenómeno de Raynaud / Characteristics of nailfold videocapillaroscopy and antinuclear antibodies in a cohort of patients with systemic autoimmune disease with Raynaud's phenomenon

Resumen Introducción: Entre un 15 y un 20% de los pacientes con fenómeno de Raynaud progresarán a una enfermedad autoinmune sistémica. La presencia de autoanticuerpos o alteraciones capilaroscópicas es fundamental para el diagnóstico temprano. Objetivos: Determinar las características de la videocapilaroscopia del lecho ungular y de los anticuerpos antinucleares en una cohorte de pacientes con enfermedad autoinmune sistémica. Materiales y métodos: Se realizó un estudio transversal en sujetos con fenómeno de Raynaud. Estos fueron evaluados con videocapilaroscopia y anticuerpos antinucleares. Las variables cualitativas se describieron con frecuencias absolutas y relativas; las variables cuantitativas, según la distribución de los datos, se reportaron como media o mediana, con desviación estándar y rango intercuartílico, respectivamente. Resultados: Se incluyeron 58 individuos; el 91,4% eran mujeres. La edad promedio fue 40,9 ± 14,1 arios. En 41 sujetos, los anticuerpos antinucleares fueron positivos; el patrón más común fue el moteado (41,5%), con una mediana de dilución de 1:640 (rango inter-cuartílico 1:320-1:1.280). Se encontró enfermedad autoinmune sistémica en 10 individuos (19,2%), 8 de ellos con esclerosis sistémica. Las alteraciones capilares más frecuentes fueron: megacapilares (n = 10), microhemorragias (n = 10) y zonas avasculares (n = 8). Conclusiones: En este grupo de pacientes con fenómeno de Raynaud sometidos a video-capilaroscopia, el diagnóstico de enfermedad autoinmune sistémica fue realizado en un porcentaje similar a lo reportado en la literatura. Se encontró una mayor dilución de anticuerpos antinucleares que la descrita.

Abstract Introduction: Between 15 and 20% of patients with Raynaud's phenomenon will progress to a systemic autoimmune disease. The presence of autoantibodies or capillaroscopy alterations are fundamental for early diagnosis. Objectives: To determine the characteristics of nailfold videocapillaroscopy and antinuclear antibodies in a cohort of patients with systemic autoimmune disease. Materials and methods: A cross-sectional study was conducted in subjects with Raynaud s phenomenon. These were evaluated with videocapillaroscopy and antinuclear antibodies. The qualitative variables were described with absolute and relative frequencies. The quantitative variables, according to the distribution of data, were reported as mean or median, with standard deviation and interquartile range, respectively. Results: The study included 58 individuals, of which 91.4% were women. The mean age was 40.9 ± 14.1 years. Antinuclear antibodies were positive in 41 subjects. The most common pattern was speckled (41.5%), with a median dilution of 1:640 (interquartile range 1:3201:1,280). A systemic autoimmune disease was found in 10 (19.2%) patients, 8 of them with systemic sclerosis. The most frequent capillary alterations were: mega-capillaries (n = 10), micro-haemorrhages (n = 10), and avascular zones (n = 8). Conclusions: In this group of patients with Raynaud's phenomenon subjected to videocapillaroscopy, a diagnosis of systemic autoimmune disease was made in a similar percentage to that reported in the literature. A higher dilution of antinuclear antibodies was found than that described.

Interpretación de los autoanticuerpos en enfermedades reumatológicas / Interpretation of autoantibodies in rheumatological diseases

RESUMEN Las enfermedades autoinmunes son un grupo de patologías crónicas en las que factores genéticos, ambientales y hormonales contribuyen a su aparición. Además de tener un amplio espectro clínico, la interpretación de los diversos autoanticuerpos y técnicas utilizadas en el laboratorio también son un reto clínico. Dada la complejidad de estas enfermedades, es muy importante apoyarse en las pruebas de laboratorio para establecer un correcto diagnóstico, seguimiento y, en algunos casos inclusive, establecer pronósticos o predicción de la posible aparición de autoinmunidad. Con todo esto se pretende mejorar la calidad de vida de los pacientes disminuyendo la gran morbimortalidad de este grupo de enfermedades, especialmente al diagnosticarlas en etapas tempranas. La mayoría de las enfermedades reumatológicas se caracterizan por la alta producción de autoanticuerpos y reactantes de fase aguda, los cuales están implicados en su fisiopatología produciendo daño directo a nivel sistémico. Entre estas, el lupus eritematoso sistémico, la artritis reumatoide y el síndrome de Sjögren son las más reconocidas. Portales motivos, el objetivo de este trabajo es hacer una revisión que permita guiar tanto a médicos como a personal de laboratorio en la interpretación de los diferentes autoanticuerpos en enfermedades autoinmunes.

ABSTRACT Autoimmune diseases are a group of chronic diseases in which genetic, environmental, and hormonal factors contribute to their appearance. In addition to having a broad clinical spectrum, the interpretation of the various autoantibodies and techniques used in the laboratory is also a clinical challenge. Given the complexity of these diseases, it is very important to rely on the results of laboratory tests to establish a correct diagnosis and follow-up and, in some cases even to establish a prognosis or prediction of autoimmunity. Taking all this into account, it is intended to improve the quality of life of patients by decreasing the increased morbidity and mortality in this group of diseases, especially by early diagnosis. Most rheumatological diseases are characterised by the high production of auto-antibodies and acute phase reactants, which are involved in their pathophysiology, leading to systemic involvement. Among these, the most recognised are, systemic lupus erythematosus, rheumatoid arthritis, and Sjögren's syndrome. For these reasons, the objective of this project is to present a review that will help both physicians and laboratory personnel in the interpretation of the different autoantibodies in autoimmune diseases.

Significance of serum IgG4 and CA19-9 in diagnosis and antidiastole of IgG4 related cholangitis / 中国免疫学杂志

Objective:To investigate the value of autoantibodies and serum levels of IgG4 and CA19-9 in the diagnosis of IgG4 associated cholangitis (IgG4-SC).Methods:Detect the serum IgG4 and CA19-9 of 41 clinical cases of IgG4-SC patients,162 clinical cases of non IgG4-SC patients and 40 healthy human serum samples by immunoassay and direct chemiluminescence methods, also detect the antinuclear antibodies (ANA),anti neutrophil antibody (ANCA),anti smooth muscle antibody (SMA) and anti mitochondrial antibody (AMA) of the above serum samples by indirect immunofluorescence and analyze the detection results.Results:①The positive rates of ANA,ANCA,SMA and AMA in patients with IgG4-SC were 41.46%,7.32%,0 and 2.44%.Among them,the positive rate of ANA was significantly different from that of the normal control group(P<0.01),and the positive rate of SMA and AMA was significantly different from that of non IgG4-SC group(P<0.01),and so as the positive rate of ANCA do with that of PSC group.②The number of serum IgG4 and CA19-9 increased samples were significantly compared with the normal control group (P<0.01);the area under the ROC curve (AUC) was 0.979 and 0.646,respectively,and P<0.05.Conclusion:The high level of serum IgG4 and CA19-9 and autoantibody detection are of great accuracy and important clinical value in the differential diagnosis of IgG4-SC.

Clinical Significance of Autoantibodies and Thyroid Function in Patients with Recurrent Spontaneous Abortion / 现代检验医学杂志

Objective To study the clinical significance of antinuclear antibody (ANA),anti-thyroid peroxidase antibody (TPO-Ab) and antithyroglobulin antibody (Tg-Ab),thyroid stimulating hormone (TSH),free triiodothyronine (FT3),free thyroxine (FT4) in patients with recurrent spontaneous abortion (RSA).Methods 46 women with RSA diagnosis in out patient department in Peking University Shenzhen Hospital from March 2015 to December 2016 were recruited as the study group,20 women with normal childbirth history were enrolled as the control group,ANA was detected by indirect immunofluorescence (IIF) assay and ELISA,TSH,FT3 and FT4 were detected by chemiluminescence immunoassay technology.Results The positive rates of ANA(IIF),TPO-Ab and Tg-Ab in patients with RSA were 24％,24％ and 15％ respectively which were significantly higher than those in healthy control (P＜0.05).Serum levels of TSH,TPO-Ab and Tg-Ab in patients with RSA were 2.70 ± 1.38 mIU/L,38.99 ± 10.18 IU/ml and 3.07 ± 1.69 IU/ml respectively,which were significantly higher than those in healthy cases (P＜0.05).Conclusion ANA and antithyroid antibodies were closely related with RSA.It is very important to screen ANA and antithyroid antibodies for etiological diagnosis and appropriate intervention in patients with RSA to reduce the incidence of abortion.

Lupus eritematoso sistémico pediátrico: reporte de un caso clínico / Systemic lupus erythematosus pediatric: report of a clinical case

El presente reporte de caso se hace con la finalidad de mejorar la valoración del paciente con esta enfermedad, así de esta manera realizar un diagnóstico precoz, porque que es una enfermedad autoinmune muy poco frecuente en pacientes pediátricos. Además, debido a que no se entienden por completo las causas del lupus eritematoso sistémico, no se sabe cómo prevenirlo pero los brotes de la enfermedad se pueden reducir. Actualmente existe una guía de práctica clínica para el tratamiento a partir de las conclusiones acordadas en la Federación Española de lupus eritematoso sistémico en 2017, pero la valoración del impacto en los resultados de los tratamientos depende de su cumplimiento, los cuales aún se encuentran en estudios

The present case report is made with the purpose of improving the assessment of the patient with this pathology, thus making an early diagnosis, because it is a very rare autoimmune disease in pediatric patients. In addition, because the causes of systemic lupus erythematosus are not fully understood, it is not known how to prevent it, but outbreaks of the disease can be reduced. Currently there is a clinical practice guide for treatment based on the conclusions agreed in the Spanish Federation of Systemic Lupus Erythematosus in 2017, but the assessment of the impact on the results of treatments depends on their compliance, which are still found in studies