Objective:To investigate whether dual-energy computed tomography(DECT) measurement of monosodium urate(MSU) crystal loading can predict the risk of gout flares.Methods:A single-center, prospective, observational study included 229 gout patients initially diagnosed at the Gout Clinic of Qingdao University from August 2021 to February 2022. The patients underwent MSU assessment of the bilateral feet using DECT. Following enrolment, all patients commenced uric acid-lowering therapy(ULT) and were followed up at 3 and 6 months. Patients who experienced at least one flare within 6 months were compared with those who did not, and the odds ratio( OR) for the risk of gout flares was calculated. Results:Patients who experienced gout flare had a significantly longer disease duration[(6.69±5.42) vs(4.14±4.86) years, P<0.01], a higher number of flares in the past year(4.80±1.73 vs 2.02±1. 23, P<0.01), a higher proportion of fatty livers(11.0% vs 1.4%, P<0.05), and a greater volume of MSU crystals in the feet[(3.52±9.74) vs(0.29±0.98)cm 3,P<0.05] compared to patients without gout flare. The results of the multifactorial logistic regression analysis indicated that the number of flares in the past year( OR=1.295, 95% CI 1.032-1.613, P<0.05) and feet MSU crystal volume( OR=3.245, 95% CI 1.164-9.064, P<0.05) were independent risk factors for gout flares. The receiver operating characteristic(ROC) curve indicated the integration of the MSU prediction model into the clinical prediction model resulted in a comprehensive prediction model with an area under curve(AUC) value of 0.780(95% CI 0.710-0.840), sensitivity of 0.83, and specificity of 0.62. Internal validation of the comprehensive prediction model using the Bootstrap method yielded a C-index of 0.770(95% CI 0.701-0.833) for predicting flares. The calibration curve of the model demonstrated a good fit between the predicted probability of flares and the actual probability, indicating high calibration accuracy. Conclusion:The volume of MSU crystals in the feet is an independent risk factor for flares following ULT. A larger volume of MSU crystals in the foot increases the likelihood of a flare. This study provides a basis for early prediction of flare and a reference for early preventive treatment.

Objective:To investigate the prevalence of hyperuricemia (HUA) in Bozidun Kirghiz township of Xinjiang Aksu region, and to explore the risk factors for the occurrence of HUA in the local area.Methods:A cross-sectional survey study was conducted by randomly selecting 9 villages in Bozidun Kirgiz Township by the whole-group sampling method and questionnaire were distributed to the households. The questionnaire included: demographic information, history of past illness, personal history, and all subjects were measured for height, weight, blood pressure, abdominal circumference, etc. The diagnostic of HUA if the serum uric acid (SUA) level >420 μmol/L in men or >360 μmol/L in women. The incidences of HUA in different age, sex, food type and life style behavior were analyzed. T test, non-parametric test and Chi-square test were used to analyze the differences among the groups, and logistic regression was used to analyze the risk factors. Results:①A total of 2 138 subjects were surveyed, among which 68 patients were with HUA, the prevalence of HUA in Bozidun Kirghiz township, Aksu region in the general population was 3.18%(68/2 138); the prevalence rate in men was 4.60%(45/978), 45 patients were identified; and the prevalence rate in women was 1.98%(23/1 160), 23 patients were identified. The peak age of HUA in male and female patients was 51~60 years old. ②The prevalence of HUA was lower in those who consumed dairy products ( χ2=6.91, P=0.017), nuts ( χ2=8.43, P=0.038) and eggs ( χ2=7.38, P=0.023), and lower in those who consumed more. Different intake of cereals ( χ2=0.87, P=0.647), meat( χ2=0.82, P=0.662), vegetables and fruits( χ2=5.22, P=0.073) had no effect on the prevalence of HUA.③In terms of different life behaviors, the prevalence of HUA in men who had been smoking was higher than those who had never smoked (57.78%, 28.89%, 13.33%, χ2=8.16, P=0.017). In the relationship between drinking and HUA, the prevalence rates of male always drinking, ever drinking and never drinking were 80.00%, 11.11% and 3.89%, respectively, the difference was statistically significant ( χ2=6.67, P=0.038). ④Multi-factor logistic regression analysis showed that high BMI, old age, high TG, increased Cr and increased WBC were risk factors for the occurrence of HUA [ OR(95% CI)=1.13(1.04, 1.23), 1.03(1.00,1.05),1.39(1.00, 1.93), 1.03(1.02, 1.05), 1.27(1.07, 1.49), all P<0.05]. Conclusion:The prevalence of HUA in Bozidun Kirgiz township in Aksu prefecture of Xinjiang is lower than that in other areas with continental climate. High BMI, old age, high TG, increased Cr and increased WBC count are risk factors for the development of HUA .

Objective:To investigate the positivity rate and high titer of antinuclear antibody (ANA) and anti-dsDNA antibody in healthy Tajik, Kirgiz, and Han Chinese populations in Xinjiang.Methods:A total of 3 687 cases of Tajik residents, 2 140 cases of Kyrgyz residents, and 2 034 cases of Han residents were selected as the study subjects, and ANA and anti-dsDNA antibodies were detected and comparatively analyzed. Data were analyzed using SPSS 22.0 software with χ2 test. Results:The positive rate of ANA in Tajik group was 15.1% [(555/3 687), 10.2%(147/1 445) male, 18.2%(408/2 242) female], of which high titers accounted for 25.8%(143/555). It was 16.7%(357/2 140) in the Kyrgyz group [10.3% male(101/980), 19.4%(256/1 160) female], with high titers accounting for 14.8%; and in the Han group, the positivity rate was 16.6% [9.8%(70/720) male, 19.1%(267/1 314) female], with high titers accounting for 18.4%(62/1 337). There was no significant difference in ANA positivity rate among the three ethnic groups( χ2=3.64, P=0.162), but there were differences in the percentage of high titer of ANA in Tajik ethnic group compared with Han and Kyrgyz ethnic groups(25.8% vs. 18.4%, χ2=6.02, P=0.014; 25.8% vs.14.8%, χ2=14.71, P=0.001), which accounted for a high percentage. The highest number of ANA high titers in all three groups was in the age group of 51~60 years. The ANA karyotype with the highest percentage of high titers in the Tajik and Kyrgyz populations was granular, while it was homogeneous and in the Han it was homogeneous.The positive rate of anti-dsDNA antibody in the Tajik group was 0.71%(26/3 687), of which high titer accounted for 23.1%(6/126); in the Kyrgyz group, it was 0.75%(16/2 034), and high titer accounted for 31.3%(4/14); and in the Han group, the positive rate was 0.69%(14/2 034), of which high titer accounted for 28.6%(4/64), and there was no statistical significance of in the difference in the positive rate of anti-dsDNA antibody and the proportion of high titer among the three groups( χ2=0.06, P=0.972; χ2=0.37, P=0.832). Conclusion:The percentage of ANA and anti-dsDNA antibodies and high titers varied vary among the three ethnic groups in this study, and long-term follow-up is needed to monitor keep an eye on the incidence of autoimmune diseases in people with high autoantibody titers.

Objective:To investigate the expression level and application value of anti-carbamylated protein(CarP)antibody in rheumatoid arthritis(RA).Methods:Demographic data and laboratory test results of RA patients,non-RA patients and healthy controls in the physical examination center were re-viewed from December 2018 to June 2019 in the Rheumatology and Immunology Department of the Peo-ple's Hospital of Xinjiang Uygur Autonomous Region.The serum concentrations of anti-CarP antibodies in all the subjects were measured by ELISA and statistically analyzed.Results:A total of 259 subjects were included in this study,including 158 in the RA group(45 serum-negative RA patients),59 in the non-RA group and 42 in the healthy control group.The concentration of anti-CarP antibody in RA group[8.31(5.22,15.26)U/mL]was higher than that in non-RA group[4.50(3.35,5.89)U/mL]and healthy control group[3.46(2.76,4.92)U/mL].The concentration of anti-CarP antibody in non-RA group was not significantly different from that in healthy control group(P=0.10).Receiver operating characteristic(ROC)curve analysis showed that the sensitivity of anti-CarP antibody in the diagnosis of RA was 58.2％,and the specificity was 93.1％.The sensitivity of the combined detection of anti-CarP antibody,anti-cyclic peptide containing citrulline(CCP)antibody and rheumatoid factor(RF)was 82.3％,and the specificity was 96.5％.The positive rate of anti-CarP antibody in serum-negative RA patients was 44.4％(20/45).Univariate Logisitic regression analysis showed that age,C-reactive pro-tein(CRP),erythrocyte sedimentation rate(ESR),RF,glucose-6-phosphate isomerase(GPI),anti-CCP antibody and anti-CarP antibody were risk factors for RA.Multivariate Logisitic regression analysis showed that anti-CCP antibody and anti-CarP antibody were independent risk factors for RA.Spearman correlation analysis showed that there was no significant correlation between anti-CarP antibody and swol-len joint count(SJC),tenderness joints count(TJC),ESR,disease activity score for 28 joints(DAS28),clinical disease activity index(CDAI),simplified disease activity index(SDAI).The concentration of anti-CarP antibody in RA with bone erosion(n=88)was higher than that in RA without bone erosion(n=70),and there was significant difference between the two groups(P＜0.05).Conclusion:Anti-CarP antibody is an effective serological marker for the diagnosis of RA.The combined detection of RF,anti-CCP antibody and anti-CarP antibody can improve its diagnostic value,and anti-CarP antibody may be an effective assistant diagnostic tool for serum negative RA.The high serum concentration of anti-CarP antibody in patients with RA may indicate an increased risk of bone erosion and should be treated early,but further cohort studies are needed for follow-up observation.

Objective:To investigate the risk factors of bronchopulmonary dysplasia (BPD) in very low birth weight (VLBW) infants with gestational age ≤32 weeks within 28 days after birth and to establish and validate the nomogram model for BPD prediction.Methods:We retrospectively chose VLBW infants with gestational age ≤32 weeks who survived to postmenstrual age (PMA) 36 weeks and were admitted to the neonatal intensive care unit of Peking University Third Hospital from January 2016 to April 2020 as the training cohort. BPD was diagnosed in accordance with the 2018 criteria. The clinical data of these infants were collected, and the risk factors of BPD were analyzed by Chi-square test, Mann-Whitney U test, and multivariate logistic regression, and a nomogram model was established. The area under the curve (AUC) of the receiver operating characteristic (ROC) curve was used to assess the predictive performance. Decision curve analysis (DCA) was constructed for differentiation evaluation, and the calibration chart and Hosmer-Lemeshow goodness of fit test were used for the calibration evaluation. Bootstrap was used for internal validation. VLBW infants with gestational age ≤32 weeks survived to PMA 36 weeks and admitted to Hebei Chengde Maternal and Child Health Hospital from October 2017 to February 2022 were included as the validation cohort. ROC curve and calibration plot were conducted in the validation cohort for external validation. Results:Of the 467 premature infants included in the training cohort, 104 were in the BPD group; of the 101 patients in the external validation cohort, 16 were in the BPD group. Multivariate logistic regression analysis showed that low birth weight ( OR=0.03, 95% CI: 0.01-0.13), nosocomial pneumonia ( OR=2.40, 95% CI: 1.41-4.09), late-onset sepsis ( OR=2.18, 95% CI: 1.18-4.02), and prolonged duration of endotracheal intubation ( OR=1.61, 95% CI: 1.26-2.04) were risk factors for BPD in these groups of infants (all P<0.05). According to the multivariate logistic regression analysis results, a nomogram model for predicting BPD risk was established. The AUC of the training cohort was 0.827 (95% CI: 0.783-0.872), and the ideal cut-off value for predicted probability was 0.206, with a sensitivity of 0.788 (95% CI: 0.697-0.862) and specificity of 0.744 (95% CI: 0.696-0.788). The AUC of the validation cohort was 0.951 (95% CI:0.904-0.999). Taking the prediction probability of 0.206 as the high-risk threshold, the sensitivity and specificity corresponding to this value were 0.812 (95% CI: 0.537-0.950) and 0.882 (95% CI: 0.790-0.939). The Hosmer-Lemeshow goodness-of-fit test in the training and validation cohort showed a good fit ( P>0.05). DCA results showed a high net benefit of clinical intervention in very preterm infants when the threshold probability was 5%~80% for the training cohort. Conclusion:Low birth weight, nosocomial pneumonia, late-onset sepsis, and prolonged tracheal intubation duration are risk factors for BPD. The established nomogram model has a certain value in predicting the risk of BPD in VLBW less than 32 weeks.

OBJECTIVE: To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree. METHODS: A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4). CONCLUSION The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.
Female ; Humans ; Pedigree ; Muscle Hypotonia ; Hearing Loss, Sensorineural ; Protein Deficiency ; Mutation

Objective:To explore early-onset gout and related risk factors in Shandong Province, and provide decision-making information on prevention.Methods:Data from electronic medical records and face-to face interview were collected from 8 393 patients with gout who first visited the gout clinic of the Affiliated Hospital of Qingdao University from September 2016 to December 2021. Data included demographics, comorbidity and biochemical examinations. The dynamic changes of onset age from 2002 to 2021 were statistically analyzed. The clinical characteristics and related risk factors of patients with early-onset and late-onset gout were statistically analyzed.Results:The age of onset of gout decreased significantly from 2002 to 2021. Compared with 2002, the average age of onset in 2021 decreased by 2.3 years [(41.9±10.6 vs 39.6±14.0) years]. The median age of onset decreased by 3 years in 2012-2021 compared with 2002-2011(37 vs 40 years, P<0.001). The proportion of gout patients with onset age<40 years old increased significantly, from 45.1% in 2002 to 57.8%, and increased by 12.7% in 20 years( P<0.001). The constituent ratios of 20-29 years old group( Ptrend<0.001) and≤19 years old group( Ptrend=0.011) increased by 9.3%( P<0.001) and 4.2%( P=0.002) over 20 years, which was the highest increase among all age groups with onset age<40 years old. Multivariate stepwise linear regression analysis showed that positive family history, blood uric acid level, metabolic syndrome and smoking were independent risk factors for early onset of gout. Conclusion:The age of gout onset in tends to be younger. The increase of the proportion of patients younger than 30 years old is probably the key factor leading to the early-onset gout in Shandong Province. Early and effective intervention on the risk factors related to early-onset gout is essential to prevent the early-onset gout as well as to reduce the prevalence of gout and complications.

Objective:To investigate the risk factors of uveitis in ankylosing spondylitis (AS).Methods:This retrospective study included 206 patients with AS who visited the department of rheumatology and immunology of People's Hospital of Xinjiang Uygur Autonomous Region between January, 2018 and December, 2018. Those patients with uveitis were enrolled in the uveitis group. AS patients without uveitis were included in the non uveitis group as control. The basic clinical data, laboratory indexes and imaging data were analyzed retrospectively by t-test, Wilcoxon rank sum test, Chi square test and binary logistic regression. Results:Thirty-seven patients with uveitis and 169 patients without uveitis were included. Compared with the non uveitis group, patients with uveitis were older in age [(40±11) years vs (36±11) years, t=-2.06, P<0.05], longer in disease duration [10(5, 16) years vs 5(2, 10) years, Z=-3.16, P<0.01], more peripheral arthritis [51.4%(19/37) vs 32.5%(55/169), χ2=4.66, P<0.05] and peripheral enthesitis [40.5%(15/37) vs 11.8%(20/169), χ2=17.34, P<0.01], and higher human leukocyte antigen (HLA)-B27 positive rate [100%(37/37) vs 85.8%(145/169), χ2=5.95, P=0.01]. However, there were no significant difference in gender, race, cervical tenderness, smoking history and volume, a positive family history of uveitis, a positive family history of AS and BMI. There was no significant difference in bloodplatelet (PLT), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR). By the binary logistic regression analysis, we found that peripheral enthesitis [ OR(95% CI)=4.289(1.832, 10.040), P<0.01], and longer disease duration [ OR(95% CI)=1.072(1.014, 1.134), P<0.05] were independently related to AS related uveitis. Conclusion:This study suggests that the risk of uveitis is increased in AS patients with longer disease duration and peripheral enthesitis.

Objective:To investigate the efficacy and safety of tofacitinib (TOF) in the treatment of psoriatic arthritis (PsA).Methods:The clinical data of 5 patients with PsA from September 2018 to December 2020 in People's Hospital of Xinjiang Uygur Autonomous Region were collected. Five patients were treated with a variety of disease-modifying anti-rheumatic drugs (DMARDs), two of them had ever been treated with biologic disease-modifying antirheumatic drugs (bDMARDs) [recombinant human tumor necrosis factor-alphareceptor Ⅱ: IgG Fc (rhTNFR: Fc, Adalimumab], but failed to show efficacy or relapse after drug withdrawal. Multiple joints were involved in 2 patients. These five patients were treated with tofacitinib. Their data were collected and analyzed 3-month and 6-month after treatment respectively, including the changes of erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), severity of pain measured by visual analogue scale (VAS), joint pain count (TCJ), joint swelling count (SCJ), health assessment questionnaire (HAQ), 28 joint disease activity score (DAS28 CRP), psoriasis area and severity index (PASI), and PsA disease activity index (DAPSA). Adverse reactions were observed and analyzed.Results:These 5 cases were treated with TOF 5 mg twice daily. Three months after treatment, swelling joints count and psoriatic rash were significantly improved, and pain was significantly relieved in 4 cases. Six months after treatment, the ESR, CRP, VAS, TCJ, SCJ, HAQ, DAS28 CRP, PASI, and DAPSA decreased further. According to DSA28-CRP score, peri-pheral joints involvement of 3 cases were improved, and 2 cases reached low disease activity state. The overall effective of PASI were observed in 4 cases. According to the DAPSA score, 1 case reached the PsA disease remission state and 4 cases reached the PsA low disease activity state. No remarkable adverse reactions occurred.Conclusion:With good therapeutic effect and less adverse reactions, TOF is a potential treatment option for PsA.

Objective:To determine the gestational weight gain and its risk factors and adverse effects among pregnant women in Beijing.Methods:Between June 2018 and June 2019, all registered infants and their mothers in a child care center of a third-tier-class hospital in Beijing were selected. A self-made questionnaire was used to collect the basic information of the maternal mothers. Chi-square test and analysis of variance were used to describe the basic characteristics of the study subjects and clarify the harmful effect of gestational weight gain for maternal and infant health. Multiple logistic regression analysis was used to analyze the risk factors of both insufficient and excessive weight gain during pregnancy.Results:A total of 3732 maternal mothers and their babies were included. The average weight gain of maternal mothers during pregnancy was 13.0 kg. The results of this study showed that the proportion of insufficient weight gain during pregnancy was 31.8% and the proportion of excessive weight gain was 24.1%. It was further found that young age, pre-pregnancy body mass index indicating overweight and obesity, primipara, and low education were independent risk factors for excessive weight gain during pregnancy. The risk of excessive weight gain of pre-pregnancy overweight and obesity was 2.40 times ( OR=2.40, 95% CI=1.91-3.03, P<0.001) and 2.90 times higher, respectively, ( OR=2.90, 95% CI=1.59-5.27, P<0.001) when compared with that of pre-pregnancy normal weight. In addition, our results suggested that excessive weight gain significantly increased the risk of macrosomia for the infant and the risk of cesarean section, gestational hypertension, and postpartum weight retention for maternal mothers. Conclusions:Age, pre-pregnancy BMI, primipara, and education level were the influencing factors for gestational weight gain. Considering the serious harmful effects of both insufficient and excessive weight gain for maternal and infant health, weight management during pregnancy should be strengthened for these high-risk populations in the future.