Objective:To summarize the clinical characteristics and factors that may affect the flare of patients with systemic lupus erythematosus (SLE).Methods:A total of 300 patients with SLE who were treated with standard treatment in the outpatient clinic of the department of rheumatology and immunology of the Second Affiliated Hospital of Air Force Military Medical University of PLA, were enrolled, and the patients were divided into 24 patients in the complete response group, 40 cases in the no response group, 192 cases in the treatment response group, and 44 cases in the low disease activity group according to the response to treatment. The differences in clinical characteristics and survival rates between the groups were compared and analyzed. Comparisons of count data were made using analysis of variance (ANOVA), comparisons of measurement data were made using the chi-square test or the Fisher′s ecact test, and survival rates were expressed as Kaplan-Meier curves. Cox regression analysis was adapted to explore risk factors for flare in these patients.Results:A total of 300 patients were followed. With a median follow-up time of 18 (1, 36) months, a total of 42 patients experienced flare. The clinical characteristics of the four groups were compared, and there were significant differences in age ( F=4.39, P=0.005), the presence of lupus nephritis ( χ2=12.66, P=0.005), hemoglobin level ( F=2.73, P=0.044), NLR level( F=3.88, P=0.010), cystatin C level( F=3.11, P=0.027), anti-RNP antibody ( χ2=12.04, P=0.007), anti-Sm antibody ( χ2=8.33, P=0.040), anti-SSB antibody ( P=0.014), anti-nucleosome antibody ( P=0.014), and anti-ribosomal P protein antibody ( χ2=11.83, P=0.008). There was no significant difference in survival between the four groups. Cox analysis showed that the combination of other autoimmune diseases [ HR(95%CI)=3.23(1.58, 6.57), P=0.001], anti-Sm antibody [ HR(95%CI)=2.15(1.04, 4.43), P=0.038], and anti-RNP antibody [ HR(95%CI)=2.54(1.13, 5.68), P=0.023] were risk factors for flare in patients with SLE who could reach the treatment target. Conclusion:Patients with SLE with different treatment responses have different clinical features, and all treatment can significantly improve the recurrence rate no matter what level of response to treatment. Patients concurrent with other autoimmune diseases, positive anti-Sm antibodies, and positive anti-RNP antibodies are at highrisk of flare.

Objective:To analyze the Risk factors for rapid progression of inpatients with anti-melanoma differentiation associated gene5 (MDA5) antibody-positive dermamyositis (DM) complicated with interstitial lung disease (ILD), and construct a clinical predictive model.Methods:A total of 63 hospitalized patients with anti MDA5 positive DM combined with ILD (MDA5+ DM-ILD) from January 1, 2016 to May 30, 2022 at the Second Affiliated Hospital of the Air Force Military Medical University were included in the study. They were divided into a control group (DM-ILD) and an observation group (DM-RPPILD) based on whether they had rapidly progressing interstitial lung disease (RPILD). Retrospective collection and organization of clinical case data from patients were conducted, and binary logistic regression was used to summarize the risk factors of DM-RPILD. R software was used to construct a clinical prediction model for RPILD occurrence using training set data, and validation set data was used to verify the predictive ability of the model.Results:The proportion of patients with SpO 2<90% at the initial diagnosis of ILD, the titers of anti MDA5 antibodies, immunoglobulin M (IgM), serum ferritin (FER) levels, and positive rates of anti Ro52 antibodies in the observation group were higher than those in the control group, the lymphocyte (LYM) count level was lower than that of the control group (all P<0.05). Binary logistic regression analysis showed SpO 2<90% at the initial diagnosis of ILD, FER level, LYM count, and anti Ro52 antibody were the influencing factors for the occurrence of RPILD (all P<0.05). The area under the curve (AUC) of the training set prediction model for predicting resistance to MDA5+ DM-RPILD was 0.922(95% CI: 0.887-0.957), with a sensitivity of 95.7% and a specificity of 72.5%; In the validation set, the prediction model predicted an AUC of 0.939(95% CI: 0.904-0.974) for resistance to MDA5+ DM-RPILD, with a sensitivity of 90.0% and a specificity of 88.9%; The calibration curves of the training and validation sets indicated that the predictive model had good calibration ability. Conclusions:SpO 2<90% at the initial diagnosis of ILD, FER levels increase, LYM count levels decrease, and anti Ro52 antibody positivity are risk factors for RPILD. The constructed clinical model has good predictive ability and has certain guiding significance for clinical work.

Objective:To analyze the clinical and genotype features of infants with epilepsy caused by RYR2 gene mutations, and explore the correlation between RYR2 gene mutations and epilepsy. Methods:The clinical characteristics and genetic test results of 2 infants with epilepsy caused by RYR2 gene mutations, admitted to Department of Pediatrics, First Affiliated Hospital of Zhengzhou University in December 2020 or May 2022, were retrospectively analyzed. The related literature was reviewed. Results:These 2 infants had onset at the infancy (4 and 9 months after birth), characterized by repeated unprovoked seizures; 1 patient had abnormal dynamic electrocardiogram results without malignant ventricular arrhythmia; 1 patient showed abnormal discharge in interictal electroencephalogram, which was effectively controlled after treatment with levetiracetam oral solution. Whole exon sequencing revealed heterozygous missense mutation of the RYR2 gene c.14767A>G(p.Met4923Val) in 1 child, heterozygous missense mutation of the RYR2 gene c.14014A>G(p.Met4672Val) in 1 child, and no other known epilepsy pathogenic gene mutation was found in 2 children. American Society for Medical Genetics and Genomics guidelines evaluated 2 mutations as pathogenic mutations (PS2+PM1+PM2+PP2+PP3). Conclusion:RYR2 gene is potentially a novel epilepsy gene.

Primary biliary cholangitis is a chronic autoimmune cholestatic disease with a progressive course. This disease is not rare in China, but standardized diagnosis and treatment for primary biliary cholangitis are insufficient. Based on the evidence and guidelines from China and other countries, Rheumatology Branch of Chinese Medical Association developed the recommendations of diagnosis and treatment for primary biliary cholangitis in China. The aim is to help clinicians recognize clinical characters, therapeutic selection and prognosis judgement of primary biliary cholangitis, which will contribute to make diagnosis in time, to select treatment properly and to manage follow-up scientifically.

Objective:To investigate the correlation between total MRI burden and serum uric acid level in patients with cerebral small vessel disease(CSVD) and its gender differences.Methods:A total of 217 patients with CSVD were retrospectively included as the research objects, and the clinical data such as serum uric acid value were collected.The imaging findings of patients with CSVD were evaluated by MRI, and the total MRI burden score of CSVD was calculated.According to the total MRI burden score of CSVD, patients with CSVD were divided into mild-to-moderate burden group ( n=133) and severe burden group ( n=84). SPSS 20.0 software was used for data analysis and processing.Logistic regression was used to analyze the relationship between uric acid and the total MRI burden score of CSVD. Results:The serum uric acid of severe burden group was higher than that of mild-to-moderate burden group((326.94±70.95)μmol/L, (293.42±80.52)μmol/L, P=0.002). The multivariate logistic regression analysis showed that the elevated level of serum uric acid was an independent risk factors for total MRI burden of CSVD ( β=0.005, OR=1.005, 95% CI=1.001-1.009, P=0.019). The patients with CSVD were equally divided into four group based on the serum uric acid concentration.After controlling the confounding factors, with the increase of uric acid level, the risk of aggravating total MRI burden score of CSVD increased, and the difference was statistically significant( P=0.001). Serum uric acid(for each quartile increase)was an independent risk factor for total MRI burden in male patients with CSVD( β=0.482, OR=1.619, 95% CI=1.125-2.330, P=0.010), while there was no significant difference in female patients( P=0.070). Conclusion:Serum uric acid level is a risk factor for increasing the total MRI burden in male patients with CSVD, but this effect is not found in female patients with CSVD.

Endoscopic teaching has always been a difficult point in clinical medical skill teaching.A standardized teaching plan was set up for the beginners to learn gastroscopy skills,which took 16 weeks.This training program included teaching the basic structure of a gastroscopy,the theory of operation skills,cleaning and disinfection of gastroscopy,and the operation of the virtual digestion endoscopy simulation training system.Only by passing the examinations of what mentioned above,could a beginner do gastroscopy of clinical subjects and write reports.According to a questionnaire survey of 15 trainees,100％ of trainees believed that virtual digestive endoscopy was necessary for the teaching of endoscopic skills.It was believed that the teaching plan were very strict and strict with 63.3％ and 33.3％ respectively.Therefore,this teaching plan with higher recognition and acceptance is suitable for the clinicians specializing in liver diseases and infectious diseases in infectious diseases specialist hospitals,who want to learn gastroscopy skills.

Objective To investigate the psychosocial functioning and risk factors of children with juvenile idiopathic arthritis (JIA).Methods A total of 79 children with JIA were selected from the inpatients and outpatients in the department of clinical immunology,a top-grade hospital in Xi'an from February to December,2017.Their demographic and disease data were collected by self-designed questionnaires.Disease remission was confirmed by using the JADAS-27 and pain intensity by visual analogue scale (VAS).The Children's Depression Inventory (CDI) and Multidimensional Anxiety Scale for Children (MASC) were rated by the children themselves.All data were analyzed with SPSS 17.0.Results A total of 316 effective questionnaires were collected,including 79 demographic questionnaires,disease questionnaires,CDI and MASC respectively.(1) The total scores of CDI were 15.22 ± 9.56.The highest scores were found for the subscale of "lack of happiness" (4.57 ± 3.63),while the lowest for the subscale of "low self-esteem" (1.75 ± 1.57).The total scores of MASC were 39.15 ±21.12.The highest scores were found for the subscale of "Injury avoidance" (13.09 ± 5.57) while the lowest for the subscale of "separation anxiety" (7.68 ± 5.66).(2) Multiple stepwise linear regression analysis showed that pain,disease activity,hormonal side effects and fatigue were the main risk factors of the psychosocial functioning of the children with JIA.Conclusions The psychosocial functioning of children with JIA was not satisfied.It suggested that we should not only take the appropriate clinical treatment to control the disease but also take combined therapy such as psychological intervention as early as possible.

Objective To evaluate the frequency of mutations that occur in PHEX,FGF - 23 and DMP - I genes associated with familial hypophosphatemic vitamin D resistant rickets among 6 patients from 4 families in China. Methods The peripheral blood samples from 4 families were collected and other 10 persons from different families were selected as normal controls,and then the total gene DNA was extracted from the whole blood. Using polymerase chain reaction(PCR)amplication,sequences of the exons and flanking zones in PHEX,FGF - 23 and DMP - I genes were sequenced by direct DNA sequencing and TA cloning,and then the mutations found were analyzed. Results In exon 6 of DMP - I gene,c1218 C ﹥ T and c1230 G ﹥ A mutations were detected in lineage 1,as same sense mutation (propositus and its sister:homozygous mutation;mother:heterozygous mutation);c1333 - 1334 GC ﹥ TT mutation,as missense mutation,was found in exon 12 of PHEX gene on the propositus of lineage 2,determined as heterozygous muta-tion,but the same mutation was not found from their parents. In exon 3 of FGF - 23 gene,c716 C ﹥ T,p. T239M hetero-zygous mutation was found on the propositus and its mother. In exon 6 of the DMP - I gene,c205 A ﹥ T homozygous mutation was detected in lineage 3. In lineage 3,c716 C ﹥ T mutation of the FGF - 23 gene was detected,and the pro-positus and their father had the same mutation. No disease causing mutations of the PHEX,FGF - 23 and DMP - I genes were detected in the family members of lineage 1,3 and 4. Conclusions The mutation c1333 - 1334 GC ﹥ TT detected in exon 12 of PHEX gene might be the cause of disease for the propositus of lineage 2,as missense mutation, which needs further verification;c716 C ﹥ T,p. T239M mutation of the FGF - 23 gene detected in lineage 2 and 3 might not be the causes of the hypophosphatemic rickets and abnormal phenotype.

Objectives To study the molecular genetics of Niemann-Pick's disease (NPD), and its implication in the diagnosis of NPD. Methods The clinical data and blood samples of three unrelated families were collected. The genomic DNA was extracted from peripheral blood. The six coding exons and their lfanking intronic sequences of SMPD1 gene in all members of three pedigrees were ampliifed by polymerase chain reaction (PCR). The SMPD1 gene sequencing results were compared with the normal sequence from Genbank to identify possible causative mutations. The ampliifcation products of exons where mutations were located were cloned into TA vector for further conifrmation. Results Family 1 proband had homozygous T107C mutation and the parents had heterozygous T107C mutation. The homozygous delete mutation (c.108-113delGCTGGC) was detected and conifrmed by TA cloning in all members of family 2 and 3. The 20 normal control members did not have this delete mutation. Conclusions The genetic basis of NPD in the proband of family 1 is the homozygous T107C mutation in SMPD1 gene, while parents in family 1 are carriers of recessive T107C mutation. The homozygous mutation c.108-113delGCTGGC exists in SMPD1 gene in all members of the family 2 and 3. This delete mutation is considered to be genetic polymorphism.

Objective To investigate the effect ofvalproate acid(VAP) on the activity ofneutrophils in children with epilepsy and its clinical significance.Methods A total of 34 cases of children with epilepsy(epilepsy group) were enrolled in this study.Another 30 healthy children were as control group.The activation rate of neutrophils was detected by flow cytometry.The levels of serum high sensitivity-C reactive protein(hs-CRP) were measured by latex enhanced immunoturbidimetric analysis.The levels of serum tumor necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6) were measured by enzyme linked immunosorbent assay analysis.Results The activation rate of neutrophils had no significant difference between epilepsy group before treatment and control group (P ＞ 0.05).The activation rate of neutrophils after treatment of 6,12 months in epilepsy group was higher than that in control group [(12.36 ± 4.72)％,(15.87 ± 5.68)％ vs.(5.32 ± 1.41)％,P ＜ 0.01].The activation rate of neutrophils after treatment of 12 months was higher than that after treatment of 6 months in epilepsy group (P ＜ 0.05).There was no significant difference in the levels of serum hs-CRP,TNF-α and IL-6 between epilepsy group before treatment and control group (P ＞ 0.05).The levels of serum hs-CRP,TNF-α and IL-6 after treatment of 6,12 months in epilepsy group were higher than those in control group [(3.64 ± 1.22),(6.96 ± 2.64) mg/L vs.(1.46 ± 0.27) mg/L,(74.72 ± 22.58),(96.67 ± 30.25) ng/L vs.(31.72 ± 12.16) ng/L,(32.59 ± 8.45),(46.74 ± 12.16) ng/L vs.(15.36 ± 4.45)ng/L,P ＜ 0.01],and those after treatment of 12 months were higher than those after treatment of 6 months (P ＜ 0.05).The activation rate of neutrophils was positively related with the serum levels of hs-CRP,TNF-αand IL-6 (r =0.328,0.402,0.344,P ＜ 0.05).Conclusions The high activation rate of neutrophils is found in children with epilepsy.The abnormal activation of neutrophils makes the body undergo high oxidative stress status.