Corea como primera manifestación de lupus eritematoso sistémico sin síndrome de anticuerpos antifosfolipídicos: reporte de caso y revisión de la bibliografía / Chorea as the first clinical manifestation of systemic lupus erythematosus without anti-phospholipid syndrome: case report and literature review

Resumen ANTECEDENTES: La corea gravídica es un padecimiento poco común, caracterizado por movimientos espontáneos irregulares, no predecibles, de duración breve, que cambian de localización sin secuencia definida, y que poseen la particularidad de ser involuntarios. En la actualidad, su incidencia se estima en 1 caso por cada 2275 embarazos. CASO CLÍNICO: Paciente de 30 años, 45 kg, talla 1.65 m, IMC 16.5, tensión arterial 110-78 mmHg, frecuencia cardiaca de 136 lpm, frecuencia respiratoria de 19 rpm, saturación de oxígeno 98%. Inició con movimientos coreicos a las 12 semanas de embarazo y titulación de anticuerpos antinucleares 1:320, anticuerpos anti-ADN de 150 UI/mL, C3 en 126 mg/dL y C4 en 31 mg/dL. Se estableció el diagnóstico de lupus eritematoso sistémico con base en los criterios de EULAR/ACR. A las 32 semanas tuvo amenaza de parto pretérmino y progresión, a pesar de la útero-inhibición, preeclampsia con criterios de severidad y manifestaciones neuropsiquiátricas con exacerbación de los movimientos coreicos. La resonancia magnética no reportó hallazgos patológicos y se descartó el síndrome de anticuerpos antifosfolipídicos secundario. Luego de la finalización del embarazo remitieron los movimientos involuntarios característicos de la corea gravídica. CONCLUSIÓN: El control prenatal en el primer trimestre es fundamental para un de-senlace favorable de las pacientes; el inicio temprano de la inmunoterapia es decisivo en los desenlaces perinatales pues disminuye la morbilidad y mortalidad asociadas. La corea es una manifestación clínica incapacitante, de ahí la importancia de identificar su causa e iniciar el tratamiento oportuno.

Abstract BACKGROUND: Chorea gravidarum is a rare condition characterised by irregular, unpredictable, spontaneous movements of short duration, changing location without defined sequence, and with the peculiarity of being involuntary. Currently, its incidence is estimated at 1 case per 2275 pregnancies. CLINICAL CASE: Patient aged 30 years, 45 kg, height 1.65 m, BMI 16.5, blood pressure 110-78 mmHg, heart rate 136 bpm, respiratory rate 19 rpm, oxygen saturation 98%. She started with choreic movements at 12 weeks of pregnancy and titration of antinuclear antibodies 1:320, anti-DNA antibodies 150 IU/mL, C3 at 126 mg/dL and C4 at 31 mg/dL. The diagnosis of systemic lupus erythematosus was established based on EULAR/ACR criteria. At 32 weeks she had threatened preterm labour and progression, despite utero-inhibition, preeclampsia with severity criteria and neuropsychiatric manifestations with exacerbation of choreic movements. MRI reported no pathological findings and secondary antiphospholipid antibody syndrome was ruled out. After termination of pregnancy the involuntary movements characteristic of chorea gravidarum subsided. CONCLUSION: Prenatal monitoring in the first trimester is essential for a favourable patient outcome; early initiation of immunotherapy is crucial for perinatal outcomes as it decreases associated morbidity and mortality. Chorea is a disabling clinical manifestation, hence the importance of identifying its cause and initiating timely treatment.

Manejo de Encefalitis anti-NMDAR con Rituximab: Reporte de caso en un Hospital Público de Lima, Perú

Introducción: La encefalitis autoinmune comprende un amplio espectro de desórdenes inmunológicos, entre ellos el anti-NMDAR es el más frecuente. El manejo de esta patología es complejo debido a múltiples circunstancias. Reporte de caso: Mujer de 19 años que inicia cuadro subagudo con trastorno conductual y neurológico asociado: Alucinaciones, heteroagresividad, mutismo acinético, crisis epilépticas, discinesias orofaciales, fiebre y arritmia cardiaca transitoria reportada. La resonancia fue normal, el EEG registró ondas delta brush, Los estudios de LCR y séricos fueron negativos para causas secundarias. Se inició tratamiento con Aciclovir, medicamento anticrisis y psicofármacos, posteriormente se inicia metilprednisolona con inmunoglobulina sin respuesta satisfactoria. Inicia tratamiento con Rituximab presentando una respuesta favorable. El panel en LCR fue positivo a NMDA. Se indica control con desescalamiento progresivo de medicamentos anticrisis y psicofármacos. Conclusión: Es importante reconocer tempranamente las manifestaciones clínicas de esta entidad para así realizar un manejo oportuno que podría mejorar el pronóstico.

Introduction: Autoimmune encephalitis comprises a wide spectrum of immunological disorders, among them anti-NMDAR is the most frequent. The management of this pathology is complex due to multiple circumstances. Case report: A 19-year-old woman who started a subacute clinical picture with associated behavioral and neurological disorder: hallucinations, heteroaggressiveness, akinetic mutism, epileptic seizures, orofacial dyskinesias, fever and reported transient cardiac arrhythmia. MRI was normal, EEG recorded delta brush waves, CSF and serum studies were negative for secondary causes. Treatment was started with Acyclovir, an anti-crisis drug, and psychotropic drugs, later methylprednisolone with immunoglobulin was started without a satisfactory response. She starts treatment with Rituximab presenting a favorable response. The CSF panel was positive for NMDA. Control with progressive de-escalation of anti-crisis medications and psychotropic drugs is indicated. Conclusion: It is important to recognize early the clinical manifestations of this entity in order to carry out timely management that could improve the prognosis.

Lupus-like nephritis with positive anti-neutrophil cytoplasmic antibodies and negative antinuclear antibodies / Nefrite semelhante à lúpica com anticorpos citoplasmáticos antineutrófilos positivos e anticorpos antinucleares negativos

Abstract Antineutrophil cytoplasmic antibodies (ANCAs) are associated with small vessel vasculitis but their prevalence is not rare in other immune diseases. In lupus nephritis (LN), their pathological role and clinical relevance have been the target of controversial views. We present a case of acute kidney injury and nephrotic syndrome in a young woman with diffuse global proliferative and membranous nephritis on her kidney biopsy, showing a full-house immunofluorescence pattern, very allusive of class IV + V LN, but lacking associated clinical criteria and laboratory findings to support the diagnosis of systemic lupus erythematosus (SLE). Furthermore, the patient presented with high titers of ANCA, steadily decreasing alongside the renal function and proteinuria improvements, with mycophenolate mofetil (MMF) and steroid treatment. The authors believe this is a case of lupus-like nephritis, in which ANCAs are immunological markers, although they are not directly involved in the pathogenesis.

Resumo Os anticorpos anticitoplasma de neutrófilos (ANCAs) estão associados à vasculite de pequenos vasos, no entanto, a sua prevalência não é rara em outras doenças imunológicas. Na nefrite lúpica (LN), o seu papel patológico e relevância clínica têm sido alvo de pontos de vista controversos. Apresentamos um caso de lesão renal aguda e síndrome nefrótica em uma jovem com nefrite proliferativa difusa e membranosa em sua biópsia renal, muito alusivo a NL classe IV + V, com um padrão full house na imunofluorescência, mas sem critérios clínicos e achados laboratoriais para corroborar o diagnóstico de lúpus eritematoso sistêmico (LES). Não obstante, a paciente apresentou títulos elevados de ANCA, que diminuiram progressivamente com a melhoria da função renal e da proteinúria, após tratamento com micofenolato de mofetil (MMF) e esteróide. Os autores acreditam que se trata de um caso de nefrite semelhante à nefrite lúpica, em que os ANCAs são marcadores imunológicos, embora não estejam diretamente envolvidos na patogênese.

Effect of materal anti-Sj?gren's syndrome type A/Sj?gren's syndrome type B antibodies on fetal heart development and the management / 中华围产医学杂志

Anti-Sj?gren's syndrome type A（SSA) and anti-Sj?gren's syndrome type B（SSB) antibodies both belong to the antinuclear antibody spectrum and are common in patients with systemic lupus erythematosus, Sj?gren's syndrome and undifferentiated connective tissue disease as well as asymptomatic patients. Approximately 1% of pregnant women are positive for anti-SSA and anti-SSB antibodies and only 1%-3% of the fetuses carried by primiparae with anti-SSA and anti-SSB antibodies show immune-mediated cardiac conduction and structural abnormalities. Due to its low incidence and insidious onset, some pregnant women were diagnosed positive for antibodies against SSA and SSB for the first time only due to fetal heart block or structural abnormalities during pregnancy. Domestic and international research on the effects of anti-SSA and anti-SSB antibodies on fetal heart and the prenatal monitoring, diagnosis, intrauterine treatment and prognosis of fetal cardiac abnormalities related to anti-SSA and anti-SSB exposure are reviewed to guide the clinical work of obstetrics.

[International Consensus on Antinuclear Antibody Patterns in Portugal]. / International Consensus on Antinuclear Antibody em Portugal.

INTRODUCTION: Screening for autoantibodies in HEp-2 cells by indirect immunofluorescence is currently accepted as the gold-standard test for the diagnosis of systemic autoimmune diseases. The main objective of the International Consensus on ANA Patterns is to achieve a consensus on the nomenclature and description of antinuclear antibody morphological patterns. This work aims to build on the International Consensus on ANA Patterns project to establish a nomenclature consensus in Portugal, thus contributing to harmonization in autoimmune diagnosis and promoting diagnostic quality in autoimmune systemic rheumatic diseases. MATERIAL AND METHODS: Participating laboratories identified all the nuclear and cytoplasmic pattern designations in the International Consensus on ANA Patterns (including the anti-cell pattern code), and matched them with the corresponding Portuguese nomenclature in use. The results were aggregated and used as a foundation for nomenclature harmonization work. Consensus meetings followed an iterative process, until a final consensual proposal was drafted. RESULTS: Prior agreement between laboratories was over 75% for 23 of the total 29 anti-cell patterns. The degree to which each laboratory is aligned with the International Consensus on ANA Patterns international reference ranges from 22.1% to 100%. It was possible to write a consensual version of the International Consensus on ANA Patterns nomenclature for Portugal. DISCUSSION: There was a good consensus basis for the nomenclature in the International Consensus on ANA Patterns, despite relevant differences with some translations. The study highlights the need for collaboration among laboratories towards an unambiguous description of laboratory results. CONCLUSION: This study shows that there is good potential for collaboration between laboratories in order to produce the consensus needed to improve diagnosis and patient follow-up.

Introdução: A pesquisa de autoanticorpos em células HEp-2 através de imunofluorescência indireta é o teste padrão atualmente aceite como a ferramenta central para o diagnóstico das doenças autoimunes sistémicas. O International Consensus on Antinuclear Antibody (ANA) Patterns tem como objetivo principal alcançar um consenso na nomenclatura e na descrição dos diferentes padrões morfológicos de anticorpos antinucleares. Este trabalho tem como objetivo ampliar o projeto do International Consensus on ANA Patterns de forma a estabelecer um consenso em Portugal para a sua nomenclatura, procurando contribuir para a harmonização no diagnóstico autoimune e promover a qualidade diagnóstica nas doenças reumáticas sistémicas autoimunes.Material e Métodos: Os laboratórios participantes identificaram cada designação de padrão citoplasmático e nuclear do International Consensus on ANA Patterns (incluindo o código padrão anti-célula), e fizeram corresponder a cada uma a respetiva nomenclatura portuguesa em uso. Os resultados foram agregados e serviram de base ao trabalho de harmonização da nomenclatura. Seguiram-se reuniões de consenso, num processo iterativo até à redação de uma proposta final consensualizada.Resultados: A concordância prévia entre laboratórios era superior a 75% para 23 do total de 29 padrões anti-célula. O grau em que cada laboratório está alinhado com a referência internacional do International Consensus on ANA Patterns varia entre 22,1% e 100%. Foi possível elaborar uma versão consensualizada da nomenclatura do International Consensus on ANA Patterns para Portugal.Discussão: Existia uma boa base de consenso para a nomenclatura do International Consensus on ANA Patterns, mas com diferenças importantes em algumas das traduções da terminologia. O estudo realça a necessidade de colaboração entre laboratórios para uma descrição inequívoca dos resultados laboratoriais.Conclusão: Este trabalho mostra o potencial positivo da colaboração entre laboratórios para gerar consensos que contribuam para a melhoria do diagnóstico e acompanhamento dos doentes.

Application of deep learning in antinuclear antibodies classification: progress and challenges / 中华检验医学杂志

Antinuclear antibodies (ANA) testing is essential for the diagnosis, classification, and disease activity monitoring of systemic autoimmune rheumatic diseases. In recent years, with the enhancement of computing power and the innovation of algorithms, the newly hip branch, deep learning (DL), practically delivered all of the most stunning achievements and breakthroughs in artificial intelligence (AI) so far. The application of DL to visual tasks, known as computer vision, has revealed significant power within the medical image recognition. Indirect immunofluorescence on HEp-2 cells is the reference method for ANA testing, the results is interpreted manually by specialized physicians. ANA fluorescent pattern classification is based on image recognition, which has a broad prospect of combining with DL to realize automatic interpretation system. This paper reviews the recent research progress and challenges of DL in the field of ANA detection in order to provide references for the standardization of ANA testing in the future.

Association of antinuclear antibody status with clinical features and malignancy risk in adult patients with dermatomyositis / 中华皮肤科杂志

Objective:To investigate the relationship of antinuclear antibody (ANA) status with clinical features and malignancy risk in adult patients with dermatomyositis.Methods:A retrospective analysis was performed to analyze clinical data from 101 inpatients with dermatomyositis in Department of Dermatology, the First Affiliated Hospital of Soochow University from April 2008 to April 2018. These patients were divided into ANA-positive group and ANA-negative group, and differences in myopathy and malignancy risks as well as other clinical features were analyzed between the 2 groups. A 2-year follow-up was undertaken among 92 patients. Chi-square test was used to analyze and compare clinical features between the 2 groups, and a multivariate regression model was used to analyze the relationship of ANA status with amyopathic dermatomyositis and malignancies.Results:Among the 101 patients with dermatomyositis, there were 42 males and 59 females, aged 55.13 ± 14.63 years; 14 patients had amyopathic dermatomyositis, 6 patients had hypomyopathic dermatomyositis, and 81 patients had myopathic dermatomyositis; 42 (41.58%) cases were positive for ANA, and 59 (58.41%) were negative for ANA. Compared with the ANA-negative group, the ANA-positive group showed significantly decreased incidence of cervical erythema (33.33% vs. 59.32%, P=0.010) and shawl sign (14.28% vs. 35.59%, P=0.017) . Twenty-eight (27.72%) patients with dermatomyositis were complicated by malignancies. Malignancies were found in 5 (11.9%) of ANA-positive patients, and in 23 (38.98%) of ANA-negative patients. Univariate analysis showed that ANA-negative patients with dermatomyositis had a higher risk of malignancies compared with ANA-positive patients with dermatomyositis, with an odds ratio of 7.52 (95% CI: 1.62-13.78, P=0.003) . In the multivariate regression model, the absence of ANA ( OR=4.34, 95% CI: 1.37-13.72, P=0.012) and cervical erythema ( OR=3.27, 95% CI: 1.20-8.91, P=0.020) were associated with high incidence of malignancies, while the absence of ANA was not significantly correlated with the occurrence of amyopathic dermatomyositis ( OR=0.99, 95% CI: 0.32-2.99, P=0.980) . Conclusions:ANA-negative adult dermatomyositis patients with cervical erythema had an increased risk of malignancies. Thus, close follow-up and regular tumor screening are necessary in these patients.

Evaluation of frequency of autoimmune hepatitis autoantibodies in children with type 1 diabetes / Frecuencia de anticuerpos de hepatitis autoinmune en niños con diabetes tipo I

Background: Diabetes mellitus type 1 (T1DM) is one of the childhood diseases with growing prevalence. Various accompanying autoimmune diseases were seen with type 1 diabetes. The most common autoimmune diseases with T1DM are autoimmune thyroiditis and celiac disease. In some reports, autoimmune hepatitis has been reported in association with DM-1. Objectives: The aim of this study was to evaluate autoimmune hepatitis autoantibodies in children with T1DM. Materials and methods: In this crosssectional study, 202 children with T1DM were evaluated (47.5% were males and 52.5% were girls). Liver enzymes, autoimmune hepatitis related autoantibodies such as anti-nuclear antibodies (ANA), anti-smooth muscle (ASMA) and anti liver and kidney microsomal antibodies (LKM-1) were measured. Liver ultrasound was done for participants and biopsy of liver was taken for children with increased echogenicity of the liver, hepatomegaly or elevated liver enzymes. Results analyzed by statistical software spss-16, Descriptive statistics and chi-square test, paired T-TEST. Level of less than 5% was considered statistically significant. Results: In 6 patients ANA and in 4 patients (2%) ASMA was positive,1 patient was ASMA positive but ANA negative. None of the patients were Anti LKM-1 positive. 3 patients had positive ANA and ASMA, and increased liver echogenicity on ultrasound simultaneously. Histological evaluation was showed that 2 patients had findings in favor of autoimmune hepatitis. Conclusion: Auto antibodies were positive in 10 cases. ANA was positive in 6 (2.97%) of all cases. ASMA was positive in 4 (1.98%) cases. Increased echogenicity was found in 3 cases. Histological evaluation showed 2 patients had biopsy confirmed autoimmune hepatitis. AIH-2 was not seen among our cases.

Antecedentes: La diabetes mellitus tipo 1 (DM1) es una de las enfermedades infantiles con mayor prevalencia. Se observaron varias enfermedades autoinmunes acompañantes con diabetes tipo 1. Las enfermedades autoinmunes más comunes con DM1 son la tiroiditis autoinmune y la enfermedad celíaca. En algunos reportes, se ha encontrado hepatitis autoinmune en asociación con DM-1. Objetivos: El objetivo de este estudio fue evaluar los autoanticuerpos de hepatitis autoinmunes en niños con DM1. Materiales y métodos: En este estudio transversal, se evaluaron 202 niños con DM1 (47,5% eran hombres y 52,5% eran niñas). Se midieron las enzimas hepáticas, los autoanticuerpos autoinmunes relacionados con la hepatitis, como los anticuerpos antinucleares (ANA), el músculo liso (ASMA) y los anticuerpos microsomales hepáticos y renales (LKM-1). Se realizó una ecografía hepática para los participantes y se tomó una biopsia del hígado para niños con mayor ecogenicidad del hígado, hepatomegalia o enzimas hepáticas elevadas. Los resultados fueron analizados por el software estadístico spss-16 usando estadística descriptiva y prueba de chi-cuadrado, T-TEST pareado. Se consideró estadísticamente significativo un nivel menor del 5%. Resultados: En 6 pacientes con ANA y en 4 pacientes (2%) ASMA fue positiva, 1 paciente fue ASMA positiva pero ANA negativa. Ninguno de los pacientes fue anti LKM-1 positivo. 3 pacientes tuvieron ANA y ASMA positivas, y aumentaron la ecogenicidad hepática en la ecografía simultáneamente. La evaluación histológica mostró que 2 pacientes tenían hallazgos a favor de la hepatitis autoinmune. Conclusión: Los autoanticuerpos fueron positivos en 10 casos. ANA fue positivo en 6 (2,97%) de todos los casos. La ASMA fue positiva en 4 (1,98%) casos. Se encontró mayor ecogenicidad en 3 casos. La evaluación histológica mostró que 2 pacientes tenían biopsia confirmada de hepatitis autoinmune. AIH-2 no fue visto entre nuestros casos.

Pediatric lupus nephritis / Nefrite lúpica em pediatria

Abstract Involvement of the kidneys by lupus nephritis (LN) is one of the most severe clinical manifestations seen in individuals with systemic lupus erythematosus (SLE). LN is more frequent and severe in pediatric patients and has been associated with higher morbidity and mortality rates. This narrative review aimed to describe the general aspects of LN and its particularities when affecting children and adolescents, while focusing on the disease's etiopathogenesis, clinical manifestations, renal tissue alterations, and treatment options.

Resumo A nefrite lúpica (NL) é caracterizada pelo acometimento dos rins no contexto das diversas manifestações clínicas do Lupus Eritematoso Sistêmico (LES), e representa uma das manifestações clínicas mais graves da doença. A NL é mais frequente e mais grave nos pacientes pediátricos, em comparação com os adultos, e causa maiores taxas de morbidade e mortalidade. O objetivo desta revisão narrativa foi descrever os aspectos gerais da NL e suas particularidades em crianças e adolescentes, com foco em sua etiopatogênese, nas manifestações clínicas, nas alterações histopatológicas renais e na abordagem terapêutica.

The evaluation of cellular immune function in elderly patients with systemic lupus erythematosus.

BACKGROUND/AIMS: To evaluate cellular immune function in systemic lupus erythematosus (SLE) patients over 60 years old, the association between antinuclear antibody (ANA) titers and the ratio of CD4+ /CD8+ was analyzed in this study. The distribution of ANAs and extractable nuclear antibodies (ENAs) in a healthy elderly population was also investigated. METHODS: Serum ANA titers were assayed by indirect immunofluorescence (IIF) and the CD4+ /CD8+ T-cell ratio was determined by flow cytometry in 76 SLE patients and 30 healthy control individuals. IIF of cytoplasm and nuclear and nucleolar staining were performed on samples taken from 286 healthy elderly individuals. ENA levels were determined using a strip enzyme immunoassay among patients that tested positive for ANAs. RESULTS: ANA titers were negative in the 30 control individuals, but were positive in the 76 SLE patients. Based on ANA titers, the SLE patients were stratified to low (≤ 1:320), medium (1:640 to 1:1,280), and high (≥ 1:2,560) titer groups. The average CD4+ /CD8+ ratio of the SLE group was significantly lower than that of the control group. Among the 286 healthy elderly volunteers, 59 (20.63%) tested positive for ANAs. A homogeneous pattern was present in 47.46% of those 59 patients and a granule pattern in the karyoplasm was present in 33.90%. Furthermore, of the 59 patients, ENAs immunoassay was positive in 18 (30.51%); Sjogren syndrome-related antigen A (SSA)/52 kd and Sjogren syndrome antigen B (SSB)/La were the two major antibodies. CONCLUSION: The significantly lower CD4+ /CD8+ ratio among SLE patients over 60 years old is associated with deregulated immune responses and the development of SLE. A low ANA titer (1:160) is common in healthy elders, emphasizing the importance of considering age when determining if the evaluation of ANA titers is to be included in autoimmune disease diagnosis.

Early typing diagnostic and predictive value of AKA, APF and ACPA in juvenile idiopathic arthritis / 中华检验医学杂志

Objective@#To investigate the early typing diagnostic and predictive value of anti-keratin antibodies(AKA), anti-perinuclear factor(APF) and anti-citrullinated protein antibodies(ACPA) in patients of juvenile idiopathic arthritis (JIA).@*Methods@#A retrospective study was conducted to collect 144 cases of JIA who were hospitalized in Capital Institute of Pediatrics from December 2013 to June 2016 and followed up for at least one year.Among them,66 were males (46%) and 78 were females (54%).The age at diagnosis was between 1 year 5 months to 15 years 9 months.144 patients were tested for AKA,ACPA,APF and TNFα upon admission. Chi-square test or Fisher exact test were used to compare the positive rates of three antibodies among different subtypes. Mann-Whitney nonparametric test and Chi-square test or Fisher exact test were used to analyze the data of prognosis between antibody-positive group and antibody-negative group in the course of disease.@*Results@#In 144 patients, 49(34%) were classified as systemic arthritis, 28 (19.4%) as polyarthritis, 61(42.3%) as oligoarthritis, and 6(4.2%) as enthesitis-associated arthritis. 52 cases (36.1%) were positive for one antibody or more antibodies of AKA/APF/ACPA at the early stage, 14(9.7%) were AKA positive, 44(30.6%) were ACPA positive and 12(8.3%) were APF positive. The positive rates of ACPA/AKA/APF antibodies were significantly different among different subtypes(χ2=33.863,26.860,14.395; P<0.01,<0.01,<0.05).The rates in polyarthritis were higher than those in systemic arthritis and oligoarthritis; In 95 children with non-systemic form, the level of TNFα in antibody-positive group (43 cases) was higher than that in antibody-negative group (52 cases) at the early stage(Z=4.785, P<0.01);144 patients were followed up for at least one year,the rates of patients who accepted biologic therapies were significantly different between antibody-positive group and antibody-negative group (50% vs 25%). So do the rates of patients with joint deformities (17.3% vs 2.2%) and with important joints involvement (hip and axis joints) (59.6% vs 14.1%) (χ2=9.249,10.875,32.392; P<0.01,<0.01,<0.01). Further more, the number of joints involved in the antibody-positive group (7.07±3.85) was significantly more than that in the antibody-negative group (2.31±1.64) (F=63.822, P<0.01).@*Conclusions@#AKA,APF and ACPA are important in the early typing diagnosis of JIA,and may be closely related to the prognosis of patients with JIA.

[Differentiated laboratory diagnostics of rheumatic diseases]. / Differenzierte Labordiagnostik rheumatologischer Krankheiten.

Laboratory diagnostics of rheumatic diseases include examinations to confirm the diagnosis, estimate prognosis, assess disease activity as well as recognition and avoidance of complications. Although detection and clinical classification of serological signs of inflammation are the first and often decisive steps in the diagnosis of inflammatory rheumatic diseases, a lack of humoral signs of inflammation does not rule out an inflammatory rheumatic disease. Rheumatological and immunological laboratory diagnostics should always be assessed in the context of the clinical issue and other clinical and technical findings.

Significance of positive autoantibodies number in antinuclear antibody spectrum for diagbosing systemic lupus erythematosus / 重庆医学

Objective To evaluate the significance of positive autoantibodies number in antinuclear antibodies(ANAs) spectrum for the diagnosis of systemic lupus erythematosus(SLE).Methods A total of 1 297 patients were included in this study,among them 148 cases were SLE,317 cases were non-SLE rheumatic diseases,99 cases were nephropathy,210 cases were hematological diseases,and 523 cases were other diseases as the control group.The ANAs level in each group was detected by immunoblotting.The rate comparison adopted the chi square test.The value of positive autoantibodies number in diagnosing SLE was analyzed by receiver operating characteristic(ROC) curve.Results The positive autoantibodies number had good diagnostic value for SLE.The area under the curve was 0.934;the positive rate of autoantibodies(AAbs) in the SLE group was 93.92 ％,which was much higher than that in other groups(P＜0.01).When the number of positive-AAbs was ≥3,the positive likelihood ratio was greater than 10(72.78),showing a very good predictive value for the diagnosis of SLE.Conclusion Three or more kinds of positive-AAbs is highly suggestive of SLE.

Clinical analysis of 12 patients with pediatric antiphospholipid syndrome with pulmonary embolism / 中华儿科杂志

Objective@#To identify the clinical and immunological characteristics of pediatric antiphospholipid syndrome (APS) patients with pulmonary embolism.@*Method@#Among 47 pediatric APS patients from Peking Union Medical College Hospital during the year of 2000 to 2015, 12 patients were diagnosed of pulmonary embolism, who were investigated and compared with APS patients without pulmonary embolism.@*Result@#Twelve patients (among whom 6 cases were primary and the other 6 were secondary APS)had pulmonary embolism and all of them were non-shock type, which was the first presenting manifestation in 6 of them.Eight cases were misdiagnosed as infection, while 3 cases were missed.Among patients with pulmonary embolism, 10 patients suffered from deep vein thrombosis at the same time, mainly in lower extremities.2 cases had thrombotic recurrence, which happened only in primary APS patients, because of irregular monitoring of International Normalized Ratio, or not taking aspirin after quitting warfarin.Positive anticardiolipin (ACL) and lupus anticoagulant (LA) were found in 10 and 9 patients respectively.Four primary APS patients had positive anti-nuclear antibodies (ANA). During follow-up of 3-100 months (median 23 months) of primary APS, no one had evolved manifestations of systemic lupus erythematosus.Primary APS was more often seen in males (M∶F 5∶1 vs. 0∶6) and the patients were much younger ((15±1) vs. (17±0) years old) than those with secondary APS.Besides that, no statistically significant difference was seen between primary and secondary APS (P all>0.05). Compared with APS patients without pulmonary embolism, pulmonary hypertension was more common in patients suffered from pulmonary embolism (3/12 vs. 0, P<0.05).@*Conclusion@#Pulmonary embolism can be the first symptom in pediatric APS patients and all of them are non-shock type, which tends to be misdiagnosed or missed. A majority of them suffer from deep vein thrombosis in the lower extremities.Rethrombosis takes place when the anticoagulant therapy is irregular.Positive anti-nuclear antibodies can be seen in primary APS patients, but no manifestations of lupus come out during follow-up.There is no significant difference between primary APS and secondary APS.Pulmonary hypertension is more common in APS patients suffered from pulmonary embolism.

Clinicopathological analysis of nine cases of dermatomyositis with panniculitis as a skin manifestation / 中华皮肤科杂志

Objective To analyze clinical and pathological features of dermatomyositis with panniculitis as a skin manifestation.Methods Clinical data were collected from 9 cases of dermatomyositis with panniculitis as a skin manifestation in Department of Dermatology of Zhongshan Hospital affiliated to Fudan University from October 2012 to July 2016,and their clinical and pathological features were analyzed.Results Of the 9 cases,6 were female and 3 were male,and the age ranged from 28 to 73 years.Panniculitis lesions of the 9 patients all manifested as painful indurated plaques or nodules on the buttock,thigh,waist,back,abdomen,upper extremities and cheeks.These lesions occurred before,after or simultaneously with the onset of characteristic skin and muscle lesions of dermatomyositis,especially preceded the onset of characteristic lesions of dermatomyositis by 30 years in 1 case.Histopathological examination of lesions showed liquefaction degeneration of basal cells,inflammatory infiltration of lymphocytes and plasma cells around blood vessels,in the fat lobules as well as between the lobules and septa in the dermis.The necrosis and calcification of lipocytes,lipomembranous changes,fibrinoid necrosis of damaged vessel walls and microvascular occlusion were observed in some cases.Because panniculitis preceded the onset of characteristic lesions of dermatomyositis,2 patients were misdiagnosed with lupus panniculitis and morphea profunda for several times.Most patients had good response to systemic glucocorticoids combined with immunosuppressive agents,while the patients with lipomembranous fat necrosis had poor response to the combination therapy.Conclusions Panniculitis lesions of dermatomyositis are histologically characteristic,and may do not coincide with the onset of characteristic lesions of dermatomyositis.If panniculitis lesions precede characteristic lesions of dermatomyositis,patients will be easily misdiagnosed.Thus,persistent follow-up visit will be of great importance for the diagnosis.

Expression of serum antinuclear antibodies in lymphoma patients and their clinical significances / 白血病·淋巴瘤

Objective To study the expression characteristics of serum antinuclear antibodies (ANA) in lymphoma patients as well as their target antigens in cells, and to explore the possible relationship between lymphoma and ANA. Methods Indirect immunofluorescence was used to detect the ANA expression level in 100 cases of lymphoma and 200 population-based controls. Then the relationship between lymphoma and ANA was investigated by means of 1:2 matched with logistic regression models. Results The positive rate of ANA in lymphoma patients was higher than that in the control group [28 % (28/100) vs. 7 % (14/200)], with a statistical difference (OR= 13.66, 95 %CI 4.10-45.57, P< 0.01). The positive rate of ANA in females was higher than that in males, and the positive rate of ANA became higher with age. Lymphoma group had more complex fluorescence pattern and wider target antigen spectrum compared with the control group. Conclusions Detection of ANA in lymphoma may help in the early diagnosis,prognosis and treatment. ANA target antigen spectra of lymphoma patients are different from those in healthy people as well as patients with autoimmune disease. Further efforts should be made to identify the target antigens as well as their biological roles and clinical significances.

Nailfold capillaroscopic findings in primary Sjögren's syndrome with and without Raynaud's phenomenon and/or positive anti-SSA/Ro and anti-SSB/La antibodies.

The aim of this study was to assess nailfold capillaroscopic (NC) findings in patients with primary Sjögren's syndrome (PSS) with and without Raynaud's phenomenon (RP) as well as in the presence of positive anti-SSA/Ro and anti-SSB/La antibodies. Videocapillaroscopy was performed in 150 patients with PSS. Data collected included demographics, presence of RP, PSS symptoms, antinuclear antibodies, rheumatoid factor, anti-Ro, anti-La, anti-CCP, salivary scintigraphy, labial biopsy, and NC findings. RP was present in 32% of PSS, keratoconjunctivitis sicca in 91%, oral xerosis in 93%, and skin or genital xerosis in 53%. In patients with positive anti-SSA/Ro (75%) and positive anti-SSB/La (40%), NC showed normal findings in 53% of cases and non-specific in 36%. In patients with PSS, NC was normal in 51% of cases and non-specific in 34%. Scleroderma pattern was found in 14 patients. RP associated with PSS had non-specific capillaroscopy in 40% of cases (p = 0.1). Pericapillary haemorrhages (p = 0.06) and capillary thrombosis (p = 0.2) were not increased, but more dilated capillaries were detected in 48% of cases. Patients with positive anti-Ro and/or anti-La have not a distinct NC profile. Patients with RP associated with PSS had more dilated capillaries, but neither pericapillary haemorrhages nor capillary thrombosis was observed.

The relationship between serum ANA expression and clinicopathologic characteristics and prognosis in colorectal cancer / 中华普通外科杂志

Objective To investigate the correlation between serum antinuclear antibody (ANA) expression and clinicopathologic characteristics as well as the prognosis in colorectal cancer patients.Methods Analysis was performed for 198 cases with histologically proven adenocarcinoma of colorectal cancer who underwent curative resection from January 2009 to December 2010.There were 113 males and 85 females,average age of 63.9 (22 to 92) years.Serum ANA expression was detected by indirect immunofluorescence.Chi-square test was used to analyze the relationship between clinicopathological features and serum ANA expression,Kaplan-Meier analyses were used to compare DFS between ANA positive and negative group,multivariate analysis was used to measure the impact of confounding variables on survival.Results Positive serum ANA was detected in 51 (25.76％) of the 198 patients,higher than that of the control group 8％ (4/50).By univariate analysis,we found that serum ANA positive was related to age ＜ 65 years (x2 =4.87,P =0.027 3),tumor size ≥5 cm (x2 =5.56,P =0.018 3),invasion depth (x2 =325.89,P ＜0.000 1) and tumor course≥5 months (x2 =5.43,P =0.019 8) respectively,and not related to gender,tumor location,tumor differentiation,lymph node and distant metastasis (P ＞ 0.05).Multivariate analysis identified that only invasion depth of tumor led to serum ANA expression significantly.Conclusions Tumor invasion depth impacts on serum ANA expression significantly,while the expression has no correlation with the prognosis of colorectal cancer.

Clinical significance of antinuclear antibodies associated with the nuclear dense fine speckled immunofluorescence pattern in autoimmune disease / 中华检验医学杂志

Objective To explore the prevalence of the nuclear dense fine speckled ( DFS ) immunofluorescence pattern in routine antinuclear antibodies(ANA) testing and its significance in patients with autoimmune diseases( AID) .Methods The ANA in 13 728 specimens were measured by indirect immunofluorescence( IIF) using HEp-2 cell slides from department of clinical laboratory, wenling hospital from 2011 to 2014.The frequencies, clinical manifestations and laboratory features of DFS positivity were restrospectively analyzed in patients with AID,usingχ2 test.Results ANA was positive in 20.56%(2 822/13 728) of the total patients, and the frequency of DFS pattern was observed in 1.81%(248/13 728) of the total patients and in 8.79%(248/2 822) of the patients with ANA positivity.In different age groups (≤20 years old, 21-49 years old and≥50 years old) , there were statistical significance of DFS pattern positive rate (male:χ2 =18.17,P<0.01; female: χ2 =1 500.00,P<0.01).And the highest frequency of ANA positivity was observed in patients from department of rheumatology(30.07%).The frequency of DFS pattern was higher in the departments of infection ( 32.58%) , dermatology ( 21.76%) , neurology ( 18.58%) and nephrology(6.73%) among the patients with ANA positivity(χ2 =123.00,P<0.01).Amony the 248 cases with DFS pattern positivity.41 cases were AID ( 16.53%) and 207 cases were non-autoimmune diseases ( 83.47%) . In AID group 13 cases were autoimmune thyroiditis ( 31.71%) , 12 cases were rheumatoid arthritis ( 29.27%) , 4 cases were autoimmune liver disease ( 9.76%) , 4 cases were undifferentiated connective tissue disease (9.76%), 3 cases were ankylosing spondylitis(7.32%), 2 cases were Sj?gren′s disease ( 4.88%) , 2 cases were inflammatory bowel disease ( 4.88%) and 1 case was systemic lupus erythematosus(2.44%).The titers of DFS in patients with AID were predominantly above 1∶320 and less than 1∶100 in non-AID.AID patients with DFS pattern positivity have different clinical manifestations and laboratory features.Howerer, antinuclear antibodies ( ANAs ) in 15 specific auto-antibodies were all negative.Conclusions The DFS pattern is a common pattern in ANA positivity patients and it mainly exists in non-AID patients.Further more, it is suggested that patients with DFS pattern identified by IIF should then be tested for anti-DFS70 antibodies with a specific immunoassay.