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Rice body synovitis (RBS) is a rare disease, especially in children. Rheumatoid disorders and tuberculosis are the first two reasons for the formation of the RB. The diagnosis is mainly based on imaging and histopathological features. Herein, we report three cases of RBS in children diagnosed with congenital synovial chondromatosis, tuberculosis (unconfirmed), and ANA -positive juvenile idiopathic arthritis. Clinical features, radiographic findings, pathophysiology, treatment process, and prognosis were reviewed and documented meticulously to enhance cognition in this population and provide some references for clinicians in diagnosing and treating the disease.
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Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, benign, and self-limiting condition characterized by lymph node inflammation. While KFD is rarely associated with ocular manifestations, our case report highlights bilateral optic neuritis in a 13-year-old male patient with KFD. We also provide a comprehensive review of similar cases in the literature.
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Introduction: Patients with systemic lupus erythematosus (SLE) are at a higher risk of developing cancer, particularly hematological malignancies such as lymphoma and leukemia. However, existing studies on this topic that assess cancer incidence following SLE diagnosis are limited. In addition, SLE can be diagnosed after cancer, although such cases in children have been rarely reported. Case report: We present the case of a 2.6-year-old boy who presented to our institute with fever and abdominal pain. His physical examination revealed a periumbilical mass, which was pathologically diagnosed as Burkitt's lymphoma. Autologous stem cell transplantation was performed to consolidate the effect of chemotherapy and reduce the risk of cancer relapse. He was diagnosed with SLE 5 years later, following the presentation of a fever with rash, positive autoantibodies, decreased complement, and kidney involvement. At the final follow-up, the patient was still alive and showed no recurrence of Burkitt's lymphoma or disease activity of SLE. Conclusion: Despite the low frequency of SLE in children with lymphoma, cancer and SLE may be induced by a common mechanism involving B-cell cloning and proliferation. Therefore, hematologists and rheumatologists should be aware of the occurrence of these two conditions during patient follow-up.
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Libman-Sacks endocarditis (LSE) is a cardiac condition characterized by the growth of verrucous vegetation. Although relatively rare in children, LSE is nevertheless a known cardiac manifestation of autoimmune diseases, including systemic lupus erythematosus (SLE). The mitral valve is the most commonly affected region, followed by the aortic valve, while the tricuspid and pulmonary valves are rarely affected. The management of established Libman-Sacks vegetation poses significant challenges, often necessitating surgical interventions, although surgery is not the primary treatment modality. Herein, we present the case of a 14-year-old Chinese female patient whose initial lupus manifestation included LSE, among other symptoms and signs that provided insights into the final diagnosis of SLE. After early comprehensive pharmacological treatment, tricuspid regurgitation and vegetation disappeared within 28 days without necessitating cardiac surgery, indicating that the resolution of LSE vegetation in this patient was achieved through a combination of immunosuppressive and anticoagulant therapy. These findings suggest the potential of this treatment approach as a viable model for the management of LSE in young patients.
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BACKGROUND: To explore the role of two major inhibitors of Wnt signal pathway, Dickkopf-1(DKK-1) and Sclerostin (SOST), in the pathogenesis of juvenile idiopathic arthritis (JIA). METHODS: 88 patients with JIA, which including 49 patients with enthesitis-related arthritis (ERA), 21 oligoarthritis (oJIA) and 18 polyarthritis (pJIA), and 36 age-and sex-matched children as healthy controls (HC) were enrolled in this study. The plasma levels of DKK-1 and SOST, measured using commercially available ELISA kits, were analyzed the correlation between the levels of DKK-1/SOST and JIA, and were analyzed in 14 patients with JIA during before and after treatment. RESULTS: Plasma levels of DKK-1 were significantly higher in the patients with JIA than that in HC, the elevation of DKK-1 level was positively correlated with HLA-B27 positive JIA. DKK-1 levels dropped significantly in patient with JIA after treatment (P < 0.05). There was no significant change in SOST levels among different subtypes of JIA, patients with JIA during before and after treatment, and HC. CONCLUSION: It was suggested that the DKK-1 may have a certain correlation with the pathogenesis of JIA, and DKK-1 levels are more closely related to the HLA-B27 positive-ERA. IMPACT: The abnormally elevated levels of Dickkopf-1 (DKK-1) may be involved in the pathogenesis of juvenile idiopathic arthritis (JIA). DKK-1 levels were more closely related to the HLA-B27 positive-enthesitis-related arthritis (ERA). DKK-1 is an inhibitor of Wnt signaling pathway that promotes osteoblastic new bone formation; it is very rare for pediatric patients with HLA-B27 positive-ERA to manifest typical spondylitis, while sacroiliac arthritis is relatively common, which may be related to the high levels of DKK-1, which is consistent with the early stage of ankylosing spondylitis (AS).
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Artrite Juvenil , Criança , Humanos , Antígeno HLA-B27 , Proteínas , Articulação SacroilíacaRESUMO
Objective: To evaluate the risk of major infections in children with newly diagnosed childhood-onset systemic lupus erythematosus (cSLE). Methods: Predictors of major infections were identified by the multivariable logistic regression. Major infection free was defined as no major infection events within 6 months after the diagnosis of cSLE. The Kaplan-Meier survival plot was performed. A prediction model for major infection events was established and examined by receiver operating characteristic (ROC) curve analysis. Results: A total of 98 eligible patients were recorded in the medical charts. Sixty-three documented events of major infections were found in 60 (61.2%) cSLE patients. Furthermore, 90.5% (57/63) of infection events occurred within the first 6 months after the diagnosis of cSLE. The high SLEDAI (SLEDAI >10), lupus nephritis and lymphocyte count <0.8×109/L were predictors for major infections. The CALL score (Children with high disease activity [SLEDAI >10], lymphopenia, and LN) was defined by the number of predictors. Patients were then categorized into two groups: low-risk (score 0-1) and high-risk (score 2-3). Patients in the high-risk group had higher rates of the major infection occurrence than those in the low-risk group during the 6 months after the diagnosis of the cSLE (P<0.001) (HR:14.10, 95% CI 8.43 to 23.59). The ROC curve analysis indicated that the CALL score was effective both in the whole cSLE cohort [area under the curve (AUC) = 0.89, 95% CI: 0.81-0.97] and in the subgroup of lung infections (n = 35) (AUC = 0.79, 95% CI: 0.57-0.99). Conclusion: High disease activity, LN and lymphopenia were predictors for major infections in newly diagnosed cSLE patients. Specific predictors help identify the cSLE patients with the high risk of major infections. The CALL score could be a useful tool to stratify cSLE patients in practice.
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OBJECTIVE: To explore the clinical value of autoantibody-based subgroup framework and the trend of autoantibody fluctuation in juvenile-onset SLE (JSLE). METHODS: Eighty-seven patients with JSLE were retrospectively collected and divided into subgroups via a two-step cluster based on the status of nine autoantibodies (double-stranded-DNA (dsDNA), nucleosome, histone, ribosomal P protein, Smith (Sm), u1-ribonucleoprotein (RNP), Sjögren's syndrome antigen A (SSA)/Ro52, SSA/Ro60, Sjögren's syndrome antigen B (SSB)/La). The final model selected in this study was based on adequate goodness of fit of the Silhouette coefficient and clinical interpretability. Clinical manifestations, organ involvements and disease activity were compared among the subgroups. Fluctuation in autoantibody status was also collected and analysed. Flare-free survival rates of the patients with positive/negative seroconversion and patients without seroconversion were studied by the Kaplan-Meier method and compared using a log-rank test. RESULTS: Two clusters were identified: subgroup 1 (positive anti-Sm/RNP group) and subgroup 2 (negative anti-Sm/RNP group). There were more lupus nephritis (LN) and neuropsychiatric SLE (NPSLE) cases in subgroup 1 than in subgroup 2. Patients in subgroup 1 exhibited higher SLE Disease Activity Index scores compared with those in subgroup 2. Furthermore, anti-ribosomal P protein (61.1%), anti-nucleosome (58.3%) and anti-dsDNA (54%) were most commonly positive autoantibodies. A progressive decrease in the frequency of patients with positive results was demonstrated during the follow-up years. The decrease was notable for anti-dsDNA, anti-nucleosome and anti-ribosomal P protein (remaining 27.27%, 38.89% and 45.00% positive in the fifth year, respectively). While for those negative at baseline diagnosis, the decrease in the frequency of negative results was progressive but modest. Kaplan-Meier curve showed that the flare-free survival of patients with positive seroconversion was significantly lower than those without seroconversion and those with negative seroconversion (p<0.001). CONCLUSIONS: In children with SLE, subgroups based on autoantibody profile can be applied to differentiate phenotypes and disease activity. Two important organ involvements, LN and NPSLE, are more common in patients with positive anti-Sm/RNP autoantibodies. Positive seroconversion may provide a valuable perspective for assessing flare, and it is worthwhile to retest the array of autoantibodies during follow-up.
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Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Síndrome de Sjogren , Humanos , Autoanticorpos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Estudos Retrospectivos , Soroconversão , Anticorpos Antinucleares , DNARESUMO
A defining feature of successful vaccination is the ability to induce long-lived antigen-specific memory cells. T follicular helper (Tfh) cells specialize in providing help to B cells in mounting protective humoral immunity in infection and after vaccination. Memory Tfh cells that retain the CXCR5 expression can confer protection through enhancing humoral response upon antigen re-exposure but how they are maintained is poorly understood. CXCR5+ memory Tfh cells in human blood are divided into Tfh1, Tfh2, and Tfh17 cells by the expression of chemokine receptors CXCR3 and CCR6 associated with Th1 and Th17, respectively. Here, we developed a new method to induce Tfh1, Tfh2, and Tfh17-like (iTfh1, iTfh2, and iTfh17) mouse cells in vitro. Although all three iTfh subsets efficiently support antibody responses in recipient mice with immediate immunization, iTfh17 cells are superior to iTfh1 and iTfh2 cells in supporting antibody response to a later immunization after extended resting in vivo to mimic memory maintenance. Notably, the counterpart human Tfh17 cells are selectively enriched in CCR7+ central memory Tfh cells with survival and proliferative advantages. Furthermore, the analysis of multiple human cohorts that received different vaccines for HBV, influenza virus, tetanus toxin or measles revealed that vaccine-specific Tfh17 cells outcompete Tfh1 or Tfh2 cells for the persistence in memory phase. Therefore, the complementary mouse and human results showing the advantage of Tfh17 cells in maintenance and memory function supports the notion that Tfh17-induced immunization might be preferable in vaccine development to confer long-term protection.
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Memória Imunológica , Células T Auxiliares Foliculares , Humanos , Animais , Camundongos , Células Th17/metabolismo , Linfócitos B , Linfócitos T Auxiliares-IndutoresRESUMO
BACKGROUND: Kikuchi-Fujimoto disease (KFD) is a self-limiting and benign disease characterized by cervical lymphadenopathy and fever. Although KFD should be made differentially diagnosed from infectious, autoimmune, and malignant diseases, it sometimes occurs in patients with systemic lupus erythematosus (SLE) and can be complicated with macrophage activation syndrome (MAS). However, it is rare that KFD is the initial manifestation of SLE and to be complicated with MAS. CASE PRESENTATION: A 9.6-year-old girl presented with high-grade fever, double-side cervical lymphadenopathy with mild pain of one week, leukopenia, alopecia, and rash on the cheek. During hospitalization, laboratory investigations showed positive antinuclear antibody (ANA), low complement 3 (C3), and low complement 4 (C4). Imaging investigations showed pleural and pericardial effusion. A 10.3-year-old girl presented with intermittent high-grade fever, double-sided cervical lymphadenopathy with obvious pain of 1-month duration, and discoid lesion on the cheek. During hospitalization, laboratory investigations showed positive ANA, leukopenia, thrombocytopenia, anemia with positive Coombs' test, low C3, and positive Smith antibodies. Both cases were diagnosed with KFD using lymph node biopsy, simultaneously fulfilling the diagnostic criteria of SLE. Subsequently, the two girls became complicated with MAS, followed by interstitial lung disease and neuropsychiatric lupus, respectively. Both patients benefited from high-dose methylprednisolone pulse therapy combined with intravenous cyclophosphamide. CONCLUSIONS: More attention should be paid to differential diagnosis, especially SLE, in children diagnosed with KFD. In addition, children with SLE who presented with KFD as the initial manifestation seem to have a higher risk of developing MAS and experiencing organ involvement.
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Linfadenite Histiocítica Necrosante , Leucopenia , Lúpus Eritematoso Sistêmico , Linfadenopatia , Síndrome de Ativação Macrofágica , Criança , Feminino , Humanos , Linfadenite Histiocítica Necrosante/complicações , Linfadenite Histiocítica Necrosante/diagnóstico , Linfadenite Histiocítica Necrosante/patologia , Síndrome de Ativação Macrofágica/etiologia , Síndrome de Ativação Macrofágica/complicações , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Febre/etiologia , DorRESUMO
BACKGROUND: Pulmonary complications of rheumatic diseases may cause functional impairment and increase mortality. However, reports regarding detection of lung involvement in children with treatment-naive, newly diagnosed rheumatic diseases are scarce. Herein, we aimed to describe the characteristics of such patients and explore the association between lung involvement and rheumatic disease. METHODS: From January 2019 to June 2021, 48 pediatric patients with treatment-naive, newly diagnosed rheumatic diseases at Department of Rheumatology and Immunology, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University were included with pulmonary function tests (PFTs) and high-resolution computed tomography (HRCT) findings, and 51 age-matched healthy controls were examined based on PFTs. Univariate and multivariable logistic regression analyses were used to investigate the clinical characters and laboratory parameters associated with lung involvement in these patients. RESULTS: Asymptomatic patients had a faster respiratory rate and a higher ratio of forced expiratory volume in 1 s/forced vital capacity than the controls (P < 0.05). More patients than controls were observed to have a decreased DLCO below the lower limit of normal (18 of 45 [40.0%] vs. 6 of 36, respectively; P = 0.041). Among the 48 patients, 8 (16.7%) had abnormal HRCT findings and 27 (56.3%) had abnormal PFT results. Thirty-one (64.6%) patients had lung involvement. Logistic regression revealed that increases in the erythrocyte sedimentation rate (ESR) and CD4/CD8 ratio were associated with increased odds ratio of lung involvement (1.037, 95% CI: 1.003-1.072; 9.875, 95% CI: 1.296-75.243, respectively). CONCLUSIONS: Pediatric patients with treatment-naive, newly diagnosed rheumatic diseases are prone to pulmonary involvement. Increased ESR and CD4/CD8 are associated with elevated odds of lung involvement in patients. We recommend routine pulmonary evaluation in such patients, especially in high-risk patients, even in the absence of respiratory symptoms, once they are diagnosed with rheumatic disease.
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Pneumopatias , Doenças Reumáticas , Criança , China/epidemiologia , Humanos , Pulmão/diagnóstico por imagem , Pneumopatias/diagnóstico , Pneumopatias/etiologia , Testes de Função Respiratória/efeitos adversos , Doenças Reumáticas/complicações , Doenças Reumáticas/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
Background: Juvenile idiopathic arthritis (JIA) is a common chronic rheumatic disease with no known cures, affecting children with the age of onset under 16 years. Patient-reported outcome (PRO) measures are an important basis for evaluating the impact of JIA and associated therapies, however, which is particular challenge in the pediatric setting. At present, no randomized controlled studies have investigated the effect and usability of ePROs symptom management for children with JIA. Methods: This longitudinal, randomized, controlled trial will be carried out at outpatient and pediatric wards of the Shanghai Children's Medical Center affiliated to Shanghai Jiao Tong University School of Medicine. A total of one hundred children with JIA diagnosed according to the International League of Associations for Rheumatology (ILAR) patients are randomized to receive individualized symptom management based on ePROs or routine management. The primary outcome is the mean C-Ped-PROMIS T-scores of patients in the ePROs-based group and the control group. The secondary outcomes are the trajectories of C-Ped-PROMIS T-scores and HRQOL scores, and changing relationship between them. Data were collected at 5 time points: at enrollment ("baseline") and at the time of follow-up visits scheduled at 1, 3, 6, and 12 months. Discussion: The findings are expected to conclude that the symptom management based on ePROs for children with JIA can improve the symptom of JIA, and it is a feasible and effective way to monitor and intervene children with JIA. Clinical Trial: http://www.chictr.org.cn/showproj.aspx?proj=132769; (ChiCTR2100050503).
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Event detection is an important task in the field of natural language processing, which aims to detect trigger words in a sentence and classify them into specific event types. Event detection tasks suffer from data sparsity and event instances imbalance problems in small-scale datasets. For this reason, the correlation information of event types can be used to alleviate the above problems. In this paper, we design a Hierarchical Attention Neural Network for Event Types (HANN-ET). Specifically, we select Long Short-Term Memory (LSTM) as the semantic encoder and utilize dynamic multi-pooling and the Graph Attention Network (GAT) to enrich the sentence feature. Meanwhile, we build several upper-level event type modules and employ a weighted attention aggregation mechanism to integrate these modules to obtain the correlation event type information. Each upper-level module is completed by a Neural Module Network (NMNs), event types within the same upper-level module can share information, and an attention aggregation mechanism can provide effective bias scores for the trigger word classifier. We conduct extensive experiments on the ACE2005 and the MAVEN datasets, and the results show that our approach outperforms previous state-of-the-art methods and achieves the competitive F1 scores of 78.9% on the ACE2005 dataset and 68.8% on the MAVEN dataset.
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Processamento de Linguagem Natural , Redes Neurais de Computação , Idioma , Memória de Longo Prazo , SemânticaRESUMO
The communication system of urban rail transit is gradually changing from train-to-ground (T2G) to train-to-train (T2T) communication. The subway can travel at speeds of up to 200 km/h in the tunnel environment, and communication between trains can be conducted via millimeter waves with minimum latency. A precise channel model is required to test the reliability of T2T communication over a non-line-of-sight (NLoS) Doppler channel in a tunnel scenario. In this paper, the description of the ray angle for a T2T communication terminal is established, and the mapping relationship of the multipath signals from the transmitter to the receiver is established. The channel parameters including the angle, amplitude, and mapping matrix from the transmitter to the receiver are obtained by the ray-tracing method. In addition, the channel model for the T2T communication system with multipath propagations is constructed. The Doppler spread simulation results in this paper are consistent with the RT simulation results. A channel physics modelling approach using an IQ vector phase shifter to achieve Doppler spread in the RF domain is proposed when paired with the Doppler spread model.
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The phase of the channel matrix elements has a significant impact on channel capacity in a mobile multiple-input multiple-output (MIMO) communication system, notably in line-of-sight (LoS) communication. In this paper, the general expression for the phase of the channel matrix at maximum channel capacity is determined. Moreover, the optimal antenna configuration of the 2 × 2 and 3 × 3 transceiver antenna array is realized for LoS communication, providing methods for n×n optimal antenna placement, which can be used in short-range LoS communication and non-scattering environment communication, such as coupling train communication and inter-satellite communication. Simulation results show that the 2 × 2 rectangular antenna array is more suitable for the communication of coupling trains, while the 3 × 3 circular arc antenna array is more suitable for virtual coupling trains according to antenna configurations. Moreover, the 2 × 2 antenna rectangular configuration proposed in this paper has reached the optimal channel in inter-satellite communication, which lays a foundation for the deployment of communication systems.
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OBJECTIVES: Most patients with progressive pseudorheumatoid dysplasia (PPRD) are initially misdiagnosed because of disease rarity and lack of awareness by most clinicians. The purpose of this study was to provide further early diagnostic options and potential treatment to patients with PPRD. METHODS: A retrospective study was performed by collecting and organizing clinical manifestations, radiographic features, laboratory test results, genetic test outcome, treatment, and follow-up records of the patients with PPRD. Age of diagnosis and genotype-phenotype correlation were further analyzed. RESULTS: Nine PPRD children with causative CCN6 mutation were included. There were 3 pairs of siblings and 1 patient from inbred family. Five patients were primarily misdiagnosed as juvenile idiopathic arthritis (JIA). The interval between onset of symptoms and definite diagnosis of 8 patients varied from 3.6 to 20 years. Symptoms at the onset included enlarged and stiff interphalangeal joints of the fingers, gait disturbance, or joint pain. Laboratory tests revealed normal range of inflammatory parameters. Radiographic findings disclosed different degrees of abnormal vertebral bodies and epiphyseal enlargement of the interphalangeal joints. After the treatment of calcitriol in 5 patients with low level 25-hydroxyvitamin D3 for around 1.25 years to 1.75 years, 2 patients kept stable, while 3 of them improved gradually. CONCLUSIONS: Combining the patient's family history, clinical features, normal inflammatory markers, and the characteristic radiographic findings, the clinical diagnosis of PPRD for the patients could be obtained at very early stage of the disease. The patients with PPRD carrying c.624dupA variant in CCN6 may have delayed onset. Underlying vitamin D deficiency should be sought and corrected in patients with PPRD.
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Artrite Juvenil , Artropatias , Artrite Juvenil/diagnóstico , Diagnóstico Precoce , Humanos , Artropatias/congênito , Artropatias/genética , Estudos RetrospectivosRESUMO
Introduction: The initial presentations of childhood-onset primary Sjögren's syndrome (C-pSS) vary, making diagnosis challenging. We aimed to improve the diagnosis and evaluation of C-pSS by summarizing its clinical and laboratory features. Methods: A total of 49 patients with C-pSS between July 2015 and August 2022 in the Department of Rheumatology and Immunology of Shanghai Children's Medical Centre were enrolled in this study. Their clinical manifestations and laboratory examinations of these patients were compared based on the presence or absence of thrombocytopenia and parotitis and whether the immunological markers, including anti-nuclear antibodies (ANA), rheumatoid factor (RF), anti-Ro52/SSA antibodies (anti-SSA/Ro52), anti-Ro60/SSA antibodies (anti-SSA/Ro60), and anti-Ro/SSB antibodies (anti-SSB), were positive. Results: The mean age at C-pSS diagnosis was 10.34 ± 3.45 years, and the ratio of boys to girls was 1:6. In the thrombocytopenia group, parotitis (P = 0.044), organ involvement except for hematology (P = 0.002), positive anti-SSB (P = 0.004), and positive RF (P = 0.001) were less frequently observed. Complement C4 (P = 0.038) and white blood cells (P = 0.002) levels decreased and increased significantly, respectively. Anti-SSB (P = 0.010) and RF (P = 0.004) positivity were independent potential protective factors against thrombocytopenia in patients with C-pSS. In the parotitis group, higher ANA titers (P = 0.027), higher focus scores on labial gland biopsy (P = 0.024), and positive RF (P = 0.001), anti-SSA/Ro60 (P = 0.003), and anti-SSB (P = 0.001) were observed more frequently. Furthermore, positive anti-SSB (P = 0.012) and positive RF (P = 0.028) were independent risk factors for parotitis in patients with C-pSS. The hemoglobin level was significantly lower in patients with positive anti-SSA/Ro52 and positive anti-SSA/Ro60 results (P = 0.022 and P = 0.029, respectively), while immunoglobulin G level was significantly higher in patients in the same group (P = 0.048 and P = 0.007, respectively). Conclusions: Positive anti-SSB and positive RF values may be independent potential protective factors of thrombocytopenia in patients with C-pSS. In contrast, positive anti-SSB and positive RF were independent risk factors of parotitis in patients with C-pSS. More studies are needed to reveal the diagnostic role and pathogenic mechanism of immunological markers in C-pSS.
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Capping protein regulator and myosin 1 linker 2 (CARMIL2) is necessary for invadopodia formation, cell polarity, lamellipodial assembly, membrane ruffling, acropinocytosis, and collective cell migration. CARMIL2 deficiency is a rare autosomal recessive disease characterized by dysfunction in naïve T-cell activation, proliferation, differentiation, and effector function and insufficient responses in T-cell memory. In this paper, we report a 9-year-old female patient with a novel pathogenic variant in CARMIL2 (c.2063C > G:p.Thr688Arg) who presented with various symptoms of primary immunodeficiencies including recurrent upper and lower respiratory infections, perioral and perineum papules, reddish impetiginized atopic dermatitis, oral ulcer, painful urination and vaginitis, otitis media, and failure to thrive. A missense mutation leading to insufficient CARMIL2 protein expression, reduced absolute T-cell and natural killer cell (NK cell) counts, and marked skewing to the naïve T-cell form was identified and indicated defective maturation of T cells and B cells. Following 1 year of multitargeted treatment with corticosteroids, hydroxychloroquine, mycophenolate mofetil, and thymosin, the patient presented with significant regression in rashes. CD4+ T-cell, CD8+ T-cell, and NK cell counts were significantly improved.
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PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome caused by mutations in PSTPIP1 is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory indicators. This study describes the cases of two pediatric female patients with long-standing recurrent arthralgia in different parts of the extremities and severe anemia, respectively, who were misdiagnosed and treated for aseptic necrosis of the femoral head and severe autoimmune hemolytic anemia, respectively. High-throughput sequencing analysis revealed a de novo heterozygous missense mutation (c.748G > A, p. Glu250Lys) in exon 11 of PSTPIP1 (NM_003978.5) in both patients, which supported a diagnosis of PAMI. The patients were treated with prednisone and etanercept, which improved their symptoms, but neutropenia remained unchanged. These cases highlight the importance of genetic assessment for the accurate diagnosis of PAMI and to ensure adequate and timely treatment of these patients.
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Proteínas Adaptadoras de Transdução de Sinal/genética , Anemia/diagnóstico , Proteínas do Citoesqueleto/genética , Inflamação/diagnóstico , Neutropenia/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal/deficiência , Anemia/complicações , Anemia/genética , Anemia/patologia , Artrite/complicações , Artrite/diagnóstico , Artrite/genética , Artrite/patologia , Criança , Pré-Escolar , Proteínas do Citoesqueleto/deficiência , Erros de Diagnóstico/prevenção & controle , Feminino , Heterozigoto , Humanos , Inflamação/complicações , Inflamação/genética , Inflamação/patologia , Erros Inatos do Metabolismo dos Metais , Mutação/genética , Células Mieloides/patologia , Neutropenia/complicações , Neutropenia/genética , Neutropenia/patologia , FenótipoRESUMO
BACKGROUND: Henoch-Schönlein purpura (HSP) is a systemic small-vessel vasculitis caused by environmental and inherent factors. Although recent research has advanced our understanding of the role of genetic susceptibility in HSP, there are still significant gaps in our knowledge. OBJECTIVES: In this study, we aimed to explore some susceptibility genes likely associated with HSP. MATERIAL AND METHODS: Three DNA samples from a family with HSP were used to perform whole exome sequencing with Illumina Hiseq 2500 high-throughput sequencing. The relevant single nucleotide variants (SNVs) were screened according to specific filter conditions and the screened SNVs were then verified with Sanger sequencing. The Sanger sequencing results were further screened according to available literature. Finally, candidate genes were validated in 92 samples from children with HSP, and also in 1 child with HSP from HSP family, using the polymerase chain reaction technique (PCR). RESULTS: Our analysis revealed that the MIF gene and the MGAT5 gene related to immunity remained after screening. Among the 93 children with HSP, there were 3 patients with MIF mutations and 2 patients with MGAT5 mutations. CONCLUSIONS: Our findings are helpful for providing new methods and ideas for understanding the pathogenesis of HSP by detecting and analyzing gene mutations at the whole-exome level including multi-generation sequencing. MIF and MGAT5 may be new susceptibility loci for HSP, but their roles in the pathogenesis of HSP are worthy of further study.
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Sequenciamento do Exoma , Vasculite por IgA , Criança , Predisposição Genética para Doença , Humanos , Vasculite por IgA/genética , MutaçãoRESUMO
Smart Parking Management Systems (SPMSs) have become a research hotspot in recent years. Many researchers are focused on vehicle detection technology for SPMS which is based on magnetic sensors. Magnetism-based wireless vehicle detectors (WVDs) integrate low-power wireless communication technology, which improves the convenience of construction and maintenance. However, the magnetic signals are not only susceptible to the adjacent vehicles, but also affected by the magnetic signal dead zone of high-chassis vehicles, resulting in a decrease in vehicle detection accuracy. In order to improve the vehicle detection accuracy of the magnetism-based WVDs, the paper introduces an RF-based vehicle detection method based on the characteristics analysis of received signal strengths (RSSs) generated by the wireless transceivers. Since wireless transceivers consume more energy than magnetic sensors, the proposed RF-based method is only activated to extract the data characteristics of RSSs to further judge the states of vehicles when the data feature of magnetic signals is not sufficient to provide accurate judgment on parking space status. The proposed method was evaluated in an actual roadside parking lot and experimental results show that when the sampling rate of magnetic sensor is 1 Hz, the vehicle detection accuracy is up to 99.62%. Moreover, compared with machine-learning-based vehicle detection method, the experimental results show that our method has achieved a good compromise between detection accuracy and power consumption.