Clinical significance of nucleolar antinuclear antibodies associated with the nucleolar immunofluorescence pattern in autoimmune disease / 国际检验医学杂志

Objective To explore the clinical significance of nucleolar antinuclear antibodies(ANA)in re-lated diseases.Methods This study was a retrospective study.Clinical samples of 71780 patients who visited the hospital from January 2017 to May 2022 were collected.Indirect immunofluorescence was used to detect ANA in clinical samples.Statistical analysis was conducted on the positivity rate of nucleolar ANA in clinical patients,as well as the relevant clinical information and laboratory characteristics of patients with autoimmune diseases(AID)with nucleolar ANA positivity.Results Among 71780 patients who underwent routine ANA testing,16778 were positive for ANA,with a positive rate of 23.37％.Among them,there were 1 708 cases of nucleolar type,accounting for 2.38％of all routine ANA tests,and the proportion of ANA positive cases was 10.18％.There was a statistically significant difference in the positive rate of nucleolar ANA between patients of different genders in the＞20-＜50 year old group and the ≥ 50 year old group(P＜0.05),while there was no statistically significant difference in the positive rate of nucleolar ANA between patients of different genders in the ≤ 20 year old group(P＞0.05).There was a statistically significant difference in the positivity rate of nucleolar ANA among women of different age groups(P＜0.05),among them,the highest positive rate of nucleolar ANA was found in women aged between 20 and 50 years old.There was no statistically significant difference in the positive rate of nucleolar ANA among males of different age groups(P＞0.05).The positivi-ty rate of ANA was the highest among patients in the Department of Rheumatology and Immunology(70.35％),but nucleolar ANA positivity was mainly seen in departments such as Reproductive Medicine Cen-ter(12.90％),Respiratory Medicine(12.40％),and Neurology(11.29％),and the difference in positivity rates between departments was statistically significant(P＜0.05).Out of 1 708 nucleolar ANA positive indi-viduals,420 underwent ANA titers,including 34 AID patients and 386 non AID patients.There was no statis-tically significant difference in nucleolus positive titers between non AID patients and AID patients(P＞0.05).Conclusion The nucleolus type is a common fluorescence pattern in ANA positive individuals,and there are gender and age differences in ANA positive individuals.The positive rate and titer of nucleolar ANA vary among different AID diseases.Combined with other immune function indicators,and it is helpful for early differential diagnosis of AID.

Effect of ANAs on hormone response in patients with AIH-PBC overlap syndrome and AIH-only / 解放军医学杂志

Objective To investigate the effect of antinuclear antibodies(ANAs)on hormone response in patients with autoimmune hepatitis(AIH)-primary biliary cholangitis(PBC)overlap syndrome(AIH-PBC OS)and AIH-only within half a year.Methods A retrospective analysis of 77 patients with autoimmune liver disease(AILD)admitted to First Clinical Medical College of Lanzhou University from January 2018 to December 2021,all of whom were confirmed by liver biopsy and receiving glucocorticoid treatment.Among them,46 patients were in AIH-PBC OS group and 31 were in AIH-only group.The general clinical characteristics,liver puncture-related indexes,autoantibodies and immunoglobulin indexes of patients in each group at the time of diagnosis were collected and compared,and the biochemical and immunoglobulin indexes of patients at the time of hormone use and at the time of review within 6 months were also collected,and the hormone response within 6 months was evaluated according to the levels of glutamic transaminase(AST),glutamic alanine transaminase(ALT)and immunoglobulin G(IgG),and the effect of ANAs on hormone response outcomes in both groups over a six-month period was analyzed.Multifactorial ordered logistic analysis was performed to evaluate the effect of ANAs on hormone response between two groups.Results There was no statistically significant difference in the percentage of AIH-PBC OS and AIH-only patients among both ANAs-positive and-negative AILD patients(55.6%vs.44.4%and 65.6%vs.34.4%,P>0.05).Among 46 patients with AIH-PBC OS,there were 25 in ANAs-positive group and 21 in ANAs-negative group.The rate of complete hormone response within 6 months was lower than that of ANAs-negative group(44.0%vs.76.2%),while the rate of hormone non-response was higher than that of ANAs-negative group(20.0%vs.0),and the difference was statistically significant(P<0.05).There were 20 cases of ANAs-positive and 11 cases of ANAs-negative in the 31 AIH-only patients.There was no statistically significant difference in the results of hormone response within 6 months between the two groups(P>0.05).Multifactorial ordered logistic analysis showed that AIH-PBC OS patients were more likely to have a higher likelihood of 6-month hormone non-response rate in ANAs-positive patients,and the difference was statistically different(P<0.05).And there was no significant effect of ANAs type on hormone response outcome in AIH-only patients(P>0.05).Conclusion AIH-PBC OS ANAs-positive patients have a poor hormone response within half a year.In AIH-only patients,ANAs have no significant effect on hormone response results.

Analysis of risk factors related to clinical stage in patients with non-small cell lung cancer / 中国现代医生

@#Objective To investigate the risk factors associated with clinical stage in patients with non-small cell lung cancer(NSCLC).Methods The clinical data of 182 patients with non-small cell lung cancer admitted from July 2019 to March 2023 were retrospectively analyzed,and they were divided into stage Ⅰ,stage Ⅱ group(n=73)and stage Ⅲ,stage Ⅳ group(n=109)according to the clinical stage.Inter-group comparison and Logistic regression analysis were used to screen the risk factors affecting the clinical stage of patients,and receiver operating characteristic(ROC)curve was used to analyze the diagnostic value of these risk factors.Results Antinuclear antibody(ANA),fibrinogen(FIB)and cytokeratin 19 fragment(CYFRA21-1)were independent risk factors affecting the clinical stage of NSCLC patients.The optimal cut-off values of FIB and CYFRA21-1 were 4.07g/L and 7.07μg/L,respectively.The area under curve(AUC)of the combined diagnosis of clinical stage was 0.859,the sensitivity was 64.2％,and the specificity was 95.9％.Conclusion ANA,FIB and CYFRA21-1 are independent risk factors for the progression of clinical stage of NSCLC patients.The combined detection of the three indicators has certain reference value for the diagnosis of clinical stage in NSCLC patients.

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.

Clinical observation of early-onset antinuclear antibody-positive juvenile idiopathic arthritis / 中华微生物学和免疫学杂志

Objective:To investigate the clinical features, treatment and follow-up of children with early-onset antinuclear antibody (ANA)-positive juvenile idiopathic arthritis (JIA).Methods:Eighty-six oligoarticular JIA patients with early-onset arthritis (≤6 years old) admitted to the Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2017 to December 2019 were included in this study. According to ANA titer, these patients were divided into two groups: ANA-positive group (44 cases) and ANA-negative group (42 cases). Clinical data including demographic data, clinical features, laboratory testing results, treatment and follow-up data were statistically analyzed.Results:The ratio of male to female was 7∶37 in the ANA-positive group and 15∶27 in the ANA-negative group and there was significant difference between the two groups ( P=0.035). The proportions of patients with increased C-reactive protein and erythrocyte sedimentation rate were higher in the ANA-positive group than in the ANA-negative group [18.18% (8/44) vs 16.67% (7/42) and 29.55% (13/44) vs 19.05% (8/42), both P>0.05]. The most commonly involved joints in the ANA-positive group were knee (95.45%, 42/44), ankle (20.45%, 9/44) and wrist (18.18%, 8/44), and unilateral asymmetric joint involvement accounted for 81.8% (36/44). In the ANA-negative group, the involved joints were knee (85.71%, 36/42), ankle (14.29%, 6/42), wrist (14.29%, 6/42) and hip (11.90%, 5/42), and 27 out of the 42 cases (64.29%) had unilateral asymmetric joint involvement. There was no significant difference in the above indexes between the two groups (all P>0.05). There were seven cases (15.91%) with uveitis in the ANA-positive group and two cases (4.76%) in the ANA-negative group, and the difference between the two groups was significant ( P=0.045). Before treatment, the ANA-positive group had a significantly higher disease activity score (JADAS27) than the ANA-negative group (14.43±2.87 vs 12.09±3.32, P=0.002). After treatment, the JADAS27 score in both groups decreased (both P<0.05). After six months of treatment, the two groups had similar clinical remission rates [70.45% (31/44) vs 76.19% (32/42), P>0.05]. Conclusions:Early-onset ANA-positive JIA was more common in female children, and asymmetric knee joint involvement was the most common clinical manifestation. The incidence of ophthalmic complications was high, and ophthalmological examination should be performed more frequently during follow-up. The prognosis of early-onset ANA-positive JIA was good with early treatment. Positive ANA was not a risk factor for poor prognosis.

Clinical characteristics of aplastic anemia patients with abnormal autoantibodies and the impact of autoantibodies on immunosuppressive therapy response / 中华内科杂志

Objective:To investigate the clinical characteristics of patients with acquired aplastic anemia (AA) accompanied by abnormal antinuclear antibody (ANA) and autoantibodies and their effects on the efficacy of immunosuppressive therapy (IST).Method:A retrospective case-control study was conducted, analyzing the clinical data of 291 patients with AA who underwent IST and were screened for autoantibodies at initial diagnosis between January 2018 and December 2019 at Blood Diseases Hospital, Chinese Academy of Medical Sciences. According to the titer of ANA at the initial diagnosis, extracted nuclear antigen antibodies (ENAs) abnormality and the change of ANA titer after treatment, the treatment responses of 3 months and 6 months after IST were compared. The correlation between clinical features and ANA abnormality was analyzed by univariate and multivariate logistic regression analysis. The parameters of univariate analysis P<0.1 were included in multivariate analysis, stepwise regression analysis and subgroup analysis. Results:A total of 291 patients were included in the study, of which 145 (49.83%) were male. Among all patients, 147 (50.52%) tested positive for ANA at initial diagnosis, with titers of 1∶100, 1∶320, and 1∶1 000 observed in 94, 47, and 6 cases, respectively. Female gender, older age, presence of paroxysmal nocturnal hemoglobinuria (PNH) clone, and higher levels of IgG, IgA, and thyroid hormone were significantly associated with ANA positivity at initial diagnosis, while white cell counts, reticulocytes, and free triiodothyronine were significantly lower than that of ANA-negatively patients (all P<0.05). Furthermore, logistic regression analyses revealed that female gender ( OR=1.980, 95% CI 1.206-3.277), older age ( OR=1.017, 95% CI 1.003-1.032), and presence of PNH clone ( OR=1.875, 95% CI 1.049-3.408) were independent risk factors for ANA positivity at initial diagnosis. Subgroup analysis indicated that the risk of ANA positivity at initial diagnosis was even higher in PNH clone-positive patients in the subgroups of females ( OR=1.24, 95% CI 1.02-1.51), severe AA ( OR=1.26, 95% CI 1.07-1.47), and age≥40 years ( OR=1.26, 95% CI 1.05-1.52) (all P<0.05). However, ANA titers at initial diagnosis, presence of other abnormal ENAs, and changes in ANA titers after treatment with IST were not correlated with treatment response (all P>0.05). Conclusions:Approximately 50% of patients with AA had abnormal ANA, and their presence was significantly associated with female gender, older age, and presence of PNH clone at initial diagnosis. However, the presence of abnormal ANA and changes in ANA titers after treatment did not affect the efficacy of IST in patients with AA.

Application of deep learning in immunofluorescence images recognition of antinuclear antibodies / 中华检验医学杂志

Objective:To develop a prototype artificial intelligence immunofluorescence image recognition system for classification of antinuclear antibodies in order to meet the growing clinical requirements for an automatic readout and classification of immunof luorescence patterns for antinuclear antibody (ANA) images.Methods:Immunofluorescence images with positive results of ANA in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from April 2020 to December 2021 were collected. Three senior technicians independently and in parallel interpreted the Immunofluorescence images to determine the ANA results. Then the images were labeled according to the ANA International Consensus on Fluorescence Patterns (ICAP) classification criteria. There were 7 labeled groups: Fine speckled, Coarse speckled, Homogeneous, nucleolar, Centromere, Nuclear dots and Nuclear envelope. Each group was randomly divided into training dataset and validation dataset at a ratio of 9∶1 by using random number table. On the deep learning framework PyTORCH 1.7, the convolutional neural network (CNN) training platform was constructed based on ResNet-34 image classification network, and the automatic ANA recognition system was established. After the model was established, the test set was set up separately, the judgment results of the model were output by ranking the prediction probability, with the results of the 2 senior technicians was taken as "golden standard". Parameters such as accuracy, precision, recall and F1-score were used as indicators to evaluate the performance of the model.Results:A total of 23138 immunofluorescence images were obtained after segmentation and annotation. A total of 7 models were trained, and the effects of different algorithms, image processing and enhancement methods on the model were compared. The ResNet-34 model with the highest accuracy andswas selected as the final model, with the classification accuracy of 93.31%, precision rate of 91%, and recall rate of 90% and F1-score of 91% in the test set. The overall coincidence rate between the model and manual interpretation was 90.05%, and the accuracy of recognition of nucleolus was the highest, with the coincidence rate reaching 100% in the test set.Conclusion:The current AI system developed based on deep learning of the ANA immunofluorescence images in the present study showed the ability to recognize ANA pattern, especially in the common, typical, simple pattern.

Clinical characteristics of artificial quartz stone silicosis patients / 中国职业医学

Objectives To explore and compare the clinical characteristics and risk factors for mortality between patients with artificial quartz stone silicosis and those with classic silicosis. Methods A total of 48 patients with artificial quartz stone silicosis (experiment group) and 98 patients with classic silicosis (control group) were recruited as the research subjects using the convenience sampling method. Data of clinical symptoms, laboratory tests, high-resolution computed tomography (HRCT), and pulmonary pathology of the research subjects were retrospectively analyzed. The Cox proportional hazards regression model was used to analyze the influencing factors on the survival time of silicosis patients. Results Patients in the experiment group had shorter years of dust exposure, latency period and time since last exposure than those in the control group (all P<0.01). The positive rate of anti-nuclear antibodies and the expression of neuron-specific enolase in the experiment group were higher than those in the control group (39.6% vs 10.2%, median： 28.44 vs 16.25, both P<0.01). The PaO2 levels in the experiment group were lower than those in the control group (median： 66.0 vs 89.0, P<0.01). The patients in the experiment group had lower vital capacity, inspiratory reserve volume, forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), and carbon monoxide diffusion capacity compared to the control group (all P<0.05), but the maximal expiratory flow in 75% vital capacity was higher than the control group (P<0.05). Compared with the control group, patients in the experiment group had the presence of ground-glass opacity (GGO) in both lungs, aggregation and fusion of subpleural nodules, and gradual formation of progressive massive fibrosis (PMF), with higher potential of pneumothorax. Within 5 years after diagnosis, the mortality of patients in the experiment group was higher than that in the control group (27.1% vs 4.1%, P<0.01). The Cox regression model analysis results showed that patients with nodule aggregation on lung HRCT images had a higher risk of mortality than those without nodule aggregation, and lower lung function including vital capacity, FVC, FEV1 and maximum expiratory flow in 25% vital capacity had higher risk of reduced survival time (all P<0.05). Conclusion Compared with patients with classic silicosis, patients with artificial quartz stone silicosis have higher level of serum neuron-specific enolase, increasing the risk of autoimmune diseases. Pulmonary imaging features in patients with artificial quartz stone silicosis include GGO, PMF and susceptibility to pneumothorax, and rare calcification of mediastinal lymph nodes, leading to a higher mortality rate within 5 years after diagnosis.

Impact of baseline fluorescent antinuclear antibody positivity on the clinical outcome of patients with primary autoimmune hemolytic anemia

Abstract Introduction Autoimmune haemolytic anaemia (AIHA) is an autoimmune disorder that can present in primary or secondary forms. The literature looking at impact of baseline fluorescent antinuclear antibody (FANA) positivity on outcomes of AIHA patients is infrequent. Objective To study the impact of baseline FANA positivity in patients with primary AIHA. Method A prospective cohort study involving 29 consecutive primary AIHA patients presenting to the Haematology department from 2013 to 2015 was analysed. After recording baseline investigations including fluorescent ANA, all patients were treated as per the standard therapeutic protocols. Clinical remission, disease free survival, relapse, mortality were compared between the FANA positive and FANA Negative AIHA groups. Results Baseline FANA positivity was found in 17 patients (58.62%). Both the groups were comparable in terms of age, sex, Hemoglobin, LDH at presentation, number of lines of treatment needed and duration of follow up. Evan's syndrome was seen in six of FANA positive patients which was statistically significant (0 v/s 6, p= 0.023). FANA positive patients had significantly higher rates of relapse per patient month follow up (1.22 v/s 3.57, p= 0.023) and lower rates of complete response (83.33% v/s 35.29%, p= 0.0118) and relapse free survival at five years. Morbidity and mortality were numerically higher in FANA positive patients. Conclusion Baseline FANA positivity among AIHA patients was found to be associated with lower complete response rates and higher relapse rates with possible higher rates of morbidity. Presence of FANA will give us prognostic value and help us in deciding the treatment options.

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.

PREVALENCE OF ANTI-NUCLEAR ANTIBODY IN THE INDIAN POPULATION: A TERTIARY REFERENCE LABORATORY STUDY

Background: Autoimmune diseases are known to be the third leading cause of fatality and morbidity amongst the population of industrialized world. They account for 3-9% of health burden in general people, but information regarding prevalence of autoantibodies and autoimmune diseases in developing nations is scarce. To study the prevalence of Anti-nuclear antibodies, Aim: the total number and distribution of different tests used in the diagnosis of anti-nuclear antibody amongst Indian population, and correlate the findings from these tests with the clinical characteristics of the patients. Retrospective data was evaluated from a Global Reference Method: Diagnostic Laboratory in Mumbai, for a period of 6 years. This included a total of 285095 cases tested for ANA. ANA-IFA and ANA-ELISA were the screening tests used while ANA-ELISA Profile and ANA Blot were the confirmatory tests. ANA by IFA was the most preferred Results: screening test (88.73%) and ANA by Blot was the most preferred Confirmatory test (67.13%) based on their sensitivity and positive predictive value respectively. ANA-IFA showed positivity of 36.48% and ANA by ELISA test had positivity of 11.46%. In confirmatory testing, ANA Blot showed a positivity of 31.90% and ELISA Profile had 23.36% positivity. Females showed significantly higher positivity for both the screening test and Confirmatory tests than males (p<0.001). Screening by ANA IFA and Confirmatory by Conclusion: ANA Blot was the most preferred tests in our study population. These tests were found to be better for diagnosis, sub-syndrome categorization, prognosis, clinical follow-up and therapeutic strategies in various autoimmune disorders.

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.

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.

Clinical application of dense fine spot anti-nuclear antibody in children with autoimmune diseases / 中华实用儿科临床杂志

Objective:To analyze the differences of the clinical characteristics and laboratory indexes in children with positive dense fine spot (DFS) type anti-nuclear antibody, and thereby to explore the value of positive DFS in the diagnosis of immunological diseases.Methods:Among 9 613 cases who were routinely tested for antinuclear antibody (ANA) from August 2017 to February 2020, there were 197 cases with DFS positive, who were subjected to a retrospective analysis.These patients were divided into the autoimmune diseases (AID) group (39 cases) and the non-AID group (158 cases) according to clinical diagnosis.Healthy children in the same physical examination were used as healthy control group (40 cases). T test was applied to analyze the differences of humoral immunity markers between AID and non-AID groups.What′s more, DFS positive patients in different clinical departments, initial symptom and the part of body were further compared. Results:Among 9 613 children tested for autoantibodies, 2 654 (27.61%) were ANA positive, with the highest detection rate of the spotted type and 197 DFS positive cases, accoun-ting for 7.42% of ANA positive children; 97 DFS positive male patients accounted for 8.20% (97/1 183 case) of ANA positive male patients, 100 DFS positive female patients accounted for 6.80% (100/1 471 cases) of ANA positive female patients, and there was no significant difference in the positive rate.The departments with high positive ANA detection included the nephrology department (27.88%) and the rheumatology department (24.83%). The departments with a higher ANA positive rate in DFS positive children included the gastroenterology department (13.25%) and the infectious department (11.76%). Among the children with DFS antibody positive, 39 cases had AID, among which 38 cases had organ-specific AID, and juvenile idiopathic arthritis (JIA) had the highest detection rate in 13 cases.The diseases with a high DFS positive rate in 158 non-AID cases included allergic purpura (46 cases). Serum immunoglobulin (IgG) level in the AID group was significantly lower than this in the non-AID group, serum IgM and C 4 levels in AID children were significantly lower than those in the non-AID group and healthy control group, and the serum IgA level of DFS positive group was significantly higher than that of children in the healthy control group.All children with DFS antibody positive had no specific autoantibodies. Conclusions:DFS antibody positive is important for the diagnosis of systemic AID in children.The combined detection with the DFS, other autoimmunity antibody index, humoral immune function index contributes to the early differential diagnosis of autoimmune diseases in children.

The clinical characteristics of nuclear dense fine speckled pattern in 95 289 patients / 中华内科杂志

To investigate the distribution and clinical significance of nuclear dense fine speckled (DFS) pattern in various diseases. A total of 95 289 patients who received DFS tests at Peking Union Medical College Hospital from January 2019 to December 2020 were included in this study. The results of indirect immunofluorescence assay (IIF) for detection of antinuclear antibody (ANA) were evaluated. The positive rates of ANA and DFS were 39.60% (37 733/95 289) and 1.19% (1 139/95 289) respectively. The positive rate of DFS in ANA-positive patients was 3.02% (1 139/37 733). DFS and ANA positivity were significantly different among different age groups rather than gender. The positivity rate of DFS reached the peak (55.57%, 633/1 139) in young patients between 21-40 years, while positive ANA with negative DFS was mainly observed in patients between 41-60 years (37.26%, 13 636/36 594). Additionally, single ANA-positivity were mainly detected in rheumatology department (59.23%, 18 402/31 066), whereas positive DFS was more common in obstetrics and gynecology department (3.08%, 49/1 593). There were 82.88% (944/1 139) patients with positive DFS diagnosed with non-autoimmune disease (non-AID), and 19.49%(222/1 139) with dermatosis. Positive DFS with higher titer (≥1∶320) was detected more frequently in autoimmune disease (AID) patients (5.13%, 10/195) than in non-AID patients (1.69%, 16/944) ( P<0.05). The DFS pattern is rare in ANA positive patients, which is mainly observed in women between 21-49 years. High titer of DFS is prevalent in AID patients, but positive DFS is detected more in non-AID patients, especially those with dermatosis.

Analysis of clinical features and prognosis of acute severe autoimmune hepatitis / 中华肝脏病杂志

Objective: To analyze the clinical features and prognosis of acute severe autoimmune hepatitis (AIH). Methods: A retrospective analysis of the clinical data of patients with acute severe AIH admitted to our hospital from 2008 to 2019 was divided into acute AIH (A-AIH) and chronic acute AIH (AC-AIH) according to the presence or absence of liver diseases. Patients' general condition, liver biochemistry, immunology, histological features of liver, hormonal therapies prognosis and related factors were analyzed. Results: A total of 41 cases [39 females, age (54.24 ± 10.55) years] were collected. Alanine aminotransferase (ALT) and total bilirubin (TBil) were significantly increased, and the international normalized ratio (INR) was > 1.5. Acute lobular inflammation was the feature of acute and severe AIH in the histology of liver. The serum IgG level was (28.36 ± 8.35) g / L. The positive rate of antinuclear antibody (ANA) and anti-smooth muscle antibody (ASMA) was 82.9%, and 17.1%, respectively. Over 70% of acute severe AIHs were AC-AIH. The duration of onset of AC-AIH was > 8 weeks, while most A-AIHs < 8 weeks, and the differences between the two groups were statistically significant (P = 0.001). The mortality rate within 30 days after hormonal treatment was 19.5%. There were statistically significant differences in TBil, Model for End-Stage Liver Disease (MELD) score and leukocyte count between the death and survival group. Conclusion: The mortality rate in acute severe AIH is high, and most of them have the basis of chronic liver disease. Serum IgG level, autoantibodies and acute lobular inflammation are important factors for diagnosis. The prognosis of hormonal therapy is related to the patients' condition and course of disease.

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.