Objective:To retrospectively analyze the treatment status of tyrosine kinase inhibitors (TKI) in newly diagnosed patients with chronic myeloid leukemia (CML) in China.Methods:Data of chronic phase (CP) and accelerated phase (AP) CML patients diagnosed from January 2006 to December 2022 from 77 centers, ≥18 years old, and receiving initial imatinib, nilotinib, dasatinib or flumatinib-therapy within 6 months after diagnosis in China with complete data were retrospectively interrogated. The choice of initial TKI, current TKI medications, treatment switch and reasons, treatment responses and outcomes as well as the variables associated with them were analyzed.Results:6 893 patients in CP ( n=6 453, 93.6%) or AP ( n=440, 6.4%) receiving initial imatinib ( n=4 906, 71.2%), nilotinib ( n=1 157, 16.8%), dasatinib ( n=298, 4.3%) or flumatinib ( n=532, 7.2%) -therapy. With the median follow-up of 43 ( IQR 22-75) months, 1 581 (22.9%) patients switched TKI due to resistance ( n=1 055, 15.3%), intolerance ( n=248, 3.6%), pursuit of better efficacy ( n=168, 2.4%), economic or other reasons ( n=110, 1.6%). The frequency of switching TKI in AP patients was significantly-higher than that in CP patients (44.1% vs 21.5%, P<0.001), and more AP patients switched TKI due to resistance than CP patients (75.3% vs 66.1%, P=0.011). Multi-variable analyses showed that male, lower HGB concentration and ELTS intermediate/high-risk cohort were associated with lower cytogenetic and molecular responses rate and poor outcomes in CP patients; higher WBC count and initial the second-generation TKI treatment, the higher response rates; Ph + ACA at diagnosis, poor PFS. However, Sokal intermediate/high-risk cohort was only significantly-associated with lower CCyR and MMR rates and the poor PFS. Lower HGB concentration and larger spleen size were significantly-associated with the lower cytogenetic and molecular response rates in AP patients; initial the second-generation TKI treatment, the higher treatment response rates; lower PLT count, higher blasts and Ph + ACA, poorer TFS; Ph + ACA, poorer OS. Conclusion:At present, the vast majority of newly-diagnosed CML-CP or AP patients could benefit from TKI treatment in the long term with the good treatment responses and survival outcomes.

Objective:To analyze the clinical characteristics of pediatric patients with Beh?et′s disease.Methods:The clinical characteristics of 86 newly diagnosed children with Beh?et′s disease admitted to the rheumatology department of Beijing Children′s Hospital from July 2015 to December 2020 were analyzed retrospectively. Statistical product and service solutions (SPSS) 26 was used for statistical analysis. The normal distribution of measurement data is expressed in Mean± SD, and the non normaldistribution of measurement data was expressed in median(minimum, maximum). The counting data was expressed in frequency (cases) and percentage. Results:There was no gender difference in the incidence of Beh?et′s disease in 86 children.The age of onset was 0.1~15.9 years, with an average of (7±4) years, and the age of diagnosis was 1.3~16.6 years, with an average of (10±4) years.The course of disease from onset to diagnosis was 0.5~168 months, with a median course of 21 months. Among 86 cases, 52 cases (60.5%) showed the most common oral ulcer at the onset, followed by 19 cases (22.1%) with fever. In terms of clinical manifestations: the most common clinical manifestation was oral ulcer in 82 cases (95.3%), followed by fever in 58 cases (67.4%), and gastrointestinal symptoms in 44 cases (51.2%). The common manifestation of digestive system involvement was abdominal pain and diarrhea. Ten cases (11.6%) had ocular symptoms, 13 cases (15.3%) had vascular involvement, and 3 cases (3.5%) had pulmonary involvement. Fourteen cases (16.2%) had family history. Fourty seven patients (54.7%) had elevated leukocyte, 65 patients (75.6%) had elevated CRP and 72 patients (83.7%) had elevated ESR.Conclusion:Beh?et′s disease in children is usually insidious in onset and infants may suffer from this disease. Oral ulcer is the most common clinical manifestation, followed by fever. For patients with fever of unknown cause, Beh?et′s disease should be noted. In terms of involvement of important organs, digestive tract involvement is more common in childhood, followed by large blood vessels and eyes.

  Objective  To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome.  Methods  Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected.  Results  The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%[5/14] vs. 14.29%[1/7], P=0.43) and ocular involvement (42.86%[6/14]vs. 28.57%[2/7], P=0.51). There was a relatively high incidence of rash (85.71%[6/7] vs. 64.29%[9/14], P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate.  Conclusions  The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.

Objective:To compare the disease outcome, quality of life score [evaluated by child health assessment questionnaire - disability index(CHAQ-DI)] and medical expenses of children with systemic juvenile idiopathic (sJIA) combined with macrophage activation syndrome (MAS) diagnosed by two different criteria.And to analyze the impacts of early MAS diagnosis criteria on the prognosis of sJIA combined with MAS in children.Methods:From January 2016 to December 2020, children with high disease activity of sJIA who were diagnosed and initially treated in the Department of Rheumatology of Beijing Children′s Hospital were enrolled in this study.Clinical characteristics on admission were recorded as baselines.Patients were divided into 2 groups according to different diagnostic criteria.Children diagnosed as MAS based on the 2016 The European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation MAS diagnostic criteria were included in MAS control group(38 cases), and those diagnosed as early MAS based on the sJIA combined MAS early warning scale but did not meet the 2016 diagnostic criteria were included in MAS early warning group(38 cases). Basic information, clinical manifestations and laboratory test results were collected.According to the clinical manifestations and laboratory results in different periods of follow-up at 4 weeks, 8 weeks, 12 weeks, 6 months and 12 months after treatments, the di-sease activity, CHAQ-DI and medical expenses were compared between the two groups.Results:There were no signi-ficant differences in the disease activity, duration of sJIA and medical expenses between the two groups (all P>0.05). In terms of laboratory results, serum ferritin in MAS early warning group were significantly lower than that of MAS control group at 4 weeks after treatment[(333.97±186.66) μg/L vs.(389.66±221.76) μg/L]( t=-83.47, P<0.05). In terms of disease activity, after 12 months of treatment, the evaluation of American College of Rheumatology pediatric indexes 70 in MAS early warning group was better than that in MAS control group [34.2%(13/38 cases) vs.7.9% (3/38 cases)]( χ2=6.067, P<0.05). In terms of CHAQ-DI, at 4 weeks, 8 weeks, 12 weeks and 6 months of treatment, CHAQ-DI in MAS early warning group were better than those in MAS control group, and the difference were statistically significant ( t=-0.34, -0.27, -0.23, -0.09; all P<0.05). In terms of cumulative medical expenditure at 12 months of treatment, the MAS early warning group was lower than the MAS control group [(114.3±80.7) thousand yuan vs.(157.9±111.7) thousand yuan]( t=-3.97, P<0.05). Conclusions:Quickly judge the condition through the quantitative integral of clinical examination and test indexes, screening and treatment of MAS in early stage are helpful to improve the prognosis and reduce the medical consumption.

Objective:To explore the clinical characteristic and prognosis of juvenile dermatomyositis (JDM) by retrospectively study of the clinical manifestations, laboratory examinations, treatment and follow-up results. The aim of this study was to improve the diagnosis and treatment of JDM and reduce the complications and mortality.Methods:Medical charts of 612 JDM cases hospitalized to Beijing children's hospital from July 2002 to July 2018. We retrospectively analyze the onset, clinical manifestations, laboratory examinations, treatment and the follow-up, and then summarize the clinical characteristics and assess the therapeutic effect and prognosis.Results:There were 278 male and 334 female. The maleto female ratio was 1∶1.2. Themedian age at symptoms onset was 5.4(2.9-8.4) years old (range 6 months to 14 years). Rash was the most common initial presentation. The main clinical manifestations were rash (100%, 612 cases) and muscles weakness (96.1%, 588 cases). The most commonly involved organs by JDM were lung (57.5%, 352 cases), digestive tract (38.5%, 236 cases) and heart (32.5%, 199 cases). Muscle enzymes elevated in 95.5% (584 cases) of the patients and 89.5%(534 cases) of the patients had typical changes on electromyography. Muscle biopsy was performed in 134 patients and pathologicresults were compatible with JDM. For the treatment, all of the patients were treated by steroids plus therapy combined with immunosuppressive agents. Mostof the patients got good effect and outcome. Twenty-four patients died, and acute respiratory failurewas the most common cause of death. 17.9%(105 cases) of patients had complications. The complications included calcinosis in 70 patients and amyotrophy in 35 patients.Conclusion:JDM is a rare disease of children, andis characterized by muscle weaknessand rash. Severe organ involvement may cause death. Treatments include corticosteroids and immunosuppressive agents, andthe outcome is generally good.

Objective:To investigate the clinical characteristics and follow-up of thrombosis of pediatric patients with systemic lupus erythematosus (SLE).Methods:In this retrospective study, inpatients who were diagnosed in Beijing Children's Hospital with SLE complicated with arterial or venous thrombosis from January 2006 to December 2019 were collected, the clinical characteristics and outcomes were analyzed. Statistical product and Service solutions (SPSS) 25.0 was used for statistical analysis. T test or χ2 test (counting data) was used to compare the differences between groups, and Kaplan-Meier survival curve was used to analyze the time of thrombus endpoint events in lupus children. Results:A total of 1 395 newly diagnosed SLE patients were admitted. Twenty-seven cases were diagnosed with thrombosis, accounting for 1.9% of all the lupus patients. The median course from diagnosis to thrombosis was 20 days (49 days before diagnosis to 1 year after dia-gnosis). Among the 27 patients, 22(81%) cases had renal involvement. The mean SLE disease activity index (SLEDAI) score was (14±6) and (11±4) at the diagnosis of lupus and at onset of thrombosis, respectively ( t=2.547, P=0.017). 30% (8/27) of the patients had no apparent clinical manifestations of thrombosis. The patients received standard anticoagulant therapy after the diagnosis of thrombosis. During follow-up, 6 patients stopped taking medications due to the severity of the primary disease. Twenty-one patients were followed up regularly for 1-3 years. Thrombosis disappeared in 12 cases (44%), thrombolysis time ranged from 16 days to 1 year. Thrombosis were getting smaller in 9 cases (33%). And the disease was stable during follow up. Conclusion:Thrombosis is not rare in pediatric patients with systemic lupus erythematosus patients. Some patients do not have apparent clinical manifestations related to thrombus. Pediatricians should be alert to patients with renal involvement need to be more vigilant for thrombosis. Early detection and active treatment are the keys to improve the prognosis of thrombosis in pediatric SLE patients.

Objective To explore the gene mutation,clinical phenotype,treatment and prognosis of chronic infantile neurologic,cutaneous,articular (CINCA) syndrome,so as to improve the diagnosis rate,reduce the disability rate and teratogenicity rate of CINCA syndrome.Methods Ten children with CINCA syndrome admitted to our hospital were retrospectively analyzed in terms of the clinical phenotypes,auxiliary examinations,treatment and follow-up.Three ml ethylene diamine tetraacetic acid (EDTA) anticoagul-ation was taken from children and their parents with the consents.Genomic DNA was extracted by QIAamp whole blood Deoxynbonucleic acid (DNA) extraction kit (German Qiagen Company).The whole exons were detected by Agilent liquid phase capture technology (Agilent Company).Finally,Sanger sequencing was used to verify the results.Results In this study,eight mutations of NLRP3 gene were found in children with CINCA syndrome,namely 913G/A (D305N),1057G/T(V353L),1702T/A (F568I),1703T/A (F568Y),1710G/C (K570N),1789A/G (S597G),1991T/C (M664T),2269G/A (G757R).The onset age of most of the cases was less than half a month,and the initial manifestation was mainly urticaria-like rash.Short stature and special face could be seen in all 10 cases.All the patients had fever and urticarial rash in varying degrees during the course of the disease.Nine of them had obvious arthritis.Nine children had central nervous system involvement.There were 8 cases of binaural nervous deafness,7 cases of binocular optic neuritis,and 6 cases of hepato-splenomegaly and/or lymphadenopathy.Amyloid A was significantly increased.Glucocorticoids and immunosup-pressive agents are the basic drugs for the treatment of this disease.If the curative effect was not good,biological agents should be added early to alleviate the disease.Conclusion CINCA syndrome is a rare autosomal dominant hereditary disease,the main clinical manifestations of which are skin,joint and central nervous system involvement,and even amyloidosis of organs.Early diagnosis and active treatment can reduce the involvement of important organs.

Objective To assess the value of small bowel computed tomography ( CT ) scan combined with single balloon enteroscopy ( SBE) for the diagnosis and treatment of Peutz-Jeghers syndrome ( PJS) . Methods CT scan was performed in cases that were clinically suspected or proved PJS for the number, size, location and relative acute complications of polyps in the small intestine. Single balloon enteroscopy was used to resect small intestinal polyps according to CT findings. The number of observed polyps in diagnosis, numbers of resected polyps, procedure duration and complications in endoscopic therapy were analysed. Results Polyps were found in the small intestine in all patients. There were 68 polyps whose diameter was 1-4 cm. Nine SBE procedures were completed in these patients. The mean procedure time was 120 min. A total of 65 polyps were detected by SBE with 95. 59％ concordance to CT results. A total of 52 polyps were resected under endoscopy, the largest diameter of which was 4 cm. No complications were observed after SBE. Conclusion Combination of small bowel CT scan and SBE is safe and effective for diagnosis and treatment of PJS patients, which is worth recommendation.

Objective To investigate the distribution,drug resistance of bile pathogenic bacteria,and the risk factors for biliary infection.Methods Clinical and laboratory data of patients hospitalized from January 2008 to October 2015 were reviewed for pathogenic bacteria and drug resistance,and the factors related to biliary tract infection were studied.Results Among all 320 cases,there were 249 cases of pathogenic bacteria in bile specimens,the positive rate was 77.81％.There were 356 strains of pathogenic bacteria of 40 species,including 244 strains of gram negative bacteria (68.54％),93 strains of gram positive bacteria (26.12％) and 19 strains of fungi (5.34％).Top three bacteria were Escherichia coli (84 strains,23.60％),Klebsiella pneumonia (60 strains,16.85％),and Enterococcus faecium (40 strains,11.24％).The Escherichia coli and Klebsiella pneumoniae had the highest drug resistance to cefazolin,and they had a lower drug resistance to cefoxitin and amikacin.The multivariate analysis showed that age ≥ 60 years (AOR =2.311,95％ CI:1.292-4.135) and the history of ERCP operation (AOR =3.475,95％ CI:1.587-7.607) were independent risk factors for biliary tract infection.Conclusion Bacteria are mainly gram negative bacteria in the bile of patients with biliary tract infection,suggesting antibiotics with low resistant rate of gram-negative is the first choice.The age ≥ 60 years and history of ERCP surgery are independent risk factors for patients with biliary tract disease.Measures to prevent biliary infections in high-risk patients should be taken.

Objective To describe and analyze the clinical and laboratory findings in a group of children diagnosed with scleroderma at Beijing Children's Hospital in the last 10 years.Methods The clinical charts of children with scleroderma in the Rheumatology Department at Beijing Children's Hospital,between January 2002 and October 2013 were reviewed.All of them fulfilled the classification criteria for juvenile sclerodema,both systemic scleroderma (SSc) and localized scleroderma (LS) types.T test was used for comparison between the two groups.Results Forty-six patients were enrolled and were diagnosed as scleroderma.Seven patients(15％) suffered from SSc and 39 patients(85％) were LS.Mean age-at-onset of LS was (5±4) years old.The male to female ratio was 1.2:1.Mean age-at-onset of SSc was (9±4) years old.All patients were female.The lesions found in LS were linear scleroderma (54％),mixed morphea (36％),generalized morphea (8％),and panclerotic morphea (3％).Twenty-six patients had internal organs involved.Three patients with nerve system involvement was found in en coup de sabre (ECDS).Systemic involvement included lung and gastrointestinal tract primarily.The heart,nerve system,kidney,eye involvement was also found.One girl had SSc combined with renal crisis.Antinuclear antibodies were positive in 77％ of LS patients and 100％ of SSc patients.Rheumatic factor was positive in 6 patients (15％),5 patients had joint involvement.Tests for anti-Scl-70 antibodies were positive in 5 (71％) patients with SSc.The most common drugs used were methotrexate and prednisone.Conclusion In this study,LS is common in children.SSc is more severe than LS.Multi-center and large sample study is needed to know the characteristics of juvenile scleroderma in China.