1.To investigate the association between gout-related gene polymorphisms and clinical phenotypic heteroge-neity in gout patients from the Foshan region
Qihong GUO ; Baolin ZHENG ; Ting LI ; Yutong JIANG ; Junli CHEN ; Yuanyi LI ; Haimei YANG ; Junguang LU
The Journal of Practical Medicine 2025;41(19):3060-3064
Objective To investigate the association between gout-related gene polymorphisms and clinical phenotypic heterogeneity among gout patients in the Foshan region,thereby providing a scientific basis for stratified clinical management.Methods A total of 125 gout patients diagnosed at the Foshan Hospital of Traditional Chinese Medicine between June 2022 and May 2025 were enrolled in this study.The collected data included demo-graphic characteristics,frequency of gout attacks,presence of tophi,levels of uric acid,creatinine,C-reactive protein(CRP),erythrocyte sedimentation rate(ESR),gout-related genes(ABCG2,SLC2A9,SLC22A12,MTHFR),and joint ultrasound findings.Group comparisons and rank correlation analyses were conducted to explore potential associations between gene polymorphisms and clinical heterogeneity.Results The male-to-female ratio was 11∶1;the mean age was(35.28±2.67)years;the mean disease duration was(6.03±0.68)years;and the mean frequency of acute attacks in the past 12 months was 4(2.0,7.25).Genotype distributions were as follows:ABCG2:wild-type(C/C),23.8%;heterozygous(C/A),53.2%;homozygous(A/A),23%.SLC2A9:wild-type(A/A),24.6%;heterozygous(A/G),50%;homozygous(G/G),25.4%.SLC22A12:wild-type(A/A),4.8%;heterozygous(A/C),31.7%;homozygous(C/C),63.5%.MTHFR:wild-type(C/C),68.3%;heterozygous(C/T),28.6%;homozygous(T/T),3.2%.Rank correlation analysis revealed that SLC2A9 polymorphisms were significantly correlated with tophi formation(ρ=0.193,P=0.031)and crystal deposition on ultrasound(ρ=0.202,P=0.025).SLC22A12 polymorphisms were associated with hypertension(ρ=0.269,P=0.003)and diabetes(ρ=0.200,P=0.026).MTHFR polymorphisms showed a correlation with diabetes(ρ=0.224,P=0.012).Conclusions Polymorphisms in SLC2A9,SLC22A12,and MTHFR are significantly linked to clinical phenotypic heterogeneity among gout patients.Genetic testing could facilitate the early identification of individuals at high risk for complications and support the development of stratified and individualized treatment approaches.
2.Clinical characteristics of juvenile dermatomyositis in anti-nuclear matrix protein 2 antibody-positive patients and risk factors for severity: a national multicenter retrospective study
Huiyuan YANG ; Wanzhen GUAN ; Ling2 YANG ; Haimei LIU ; Xiaoqing3 LI ; Haiguo YU ; Meiping LU ; Jun YANG ; Xiaohui LIU ; Hongxia ZHANG ; Wei ZHANG ; Jihong XIAO ; Xiaozhong LI ; Guomin LI ; Hong CHANG ; Sheng HAO ; Yue DU ; Daliang XU ; Ling WU ; Wenjie ZHENG ; Li LIU ; Xinhui JIANG ; Shaohui ZHU ; Dongmei ZHAO ; Xuemei TANG ; Li SUN
Chinese Journal of Pediatrics 2025;63(12):1299-1305
Objective:To investigate the clinical characteristics and independent risk factors of severe disease in patients with anti-nuclear matrix protein (NXP) 2 antibody-positive juvenile dermatomyositis (JDM).Methods:A retrospective cohort study was conducted, including 219 anti-NXP2 antibody-positive JDM patients admitted to 23 children′s hospitals across China from July 2011 to July 2023. Patients were classified into severe and non-severe groups based on classification criteria for severe dermatomyositis. Demographic characteristics, clinical manifestations, and laboratory parameters were compared between the 2 groups using independent sample t-test, Mann-Whitney U test, or χ2 test. Univariate and multivariate Logistic regression analyses were performed to identify risk factors for severe disease. The receiver operating characteristic curve was employed to calculate optimal cut-off values. Results:Among the 219 patients, 108 were male and 111 were female, with an age at onset of 6.3 (3.5, 9.4) years. The severe group comprised 69 patients, and the non-severe group 150 patients. The severe group had significantly higher rates of fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, as well as elevated levels of ferritin-to-albumin ratio (FAR), creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) (all P<0.05). Multivariate analysis identified anti-Ro52 antibody positivity ( OR=13.26, 95% CI 1.37-128.29) and elevated FAR ( OR=1.90, 95% CI 1.09-2.31) as independent risk factors for severe anti-NXP2 antibody-positive JDM (both P<0.05). Receiver operating characteristic curve analysis revealed that a FAR cutoff value of 6.82 predicted severe disease with an area under the curve of 0.87 (95% CI 0.81-0.94, P<0.001), sensitivity of 0.85, and specificity of 0.70. All patients received glucocorticoid therapy, and the severe group received higher proportions of steroid pulse therapy, cyclophosphamide, mycophenolate mofetil, intravenous immunoglobulin, biologics, and adjuvant treatments compared to the non-severe group (all P<0.05). In terms of outcomes, 2 patients (2.9%) in the severe group died (due to neurological involvement and intestinal perforation, respectively), while the remaining patients achieved complete clinical response or remission. All patients in the non-severe group achieved remission. Conclusions:The primary clinical features of anti-NXP2 antibody-positive JDM included fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, and elevated levels of CK, AST, LDH, and FAR. Furthermore, anti-Ro52 antibody positivity and a FAR>6.82 were identified as independent risk factors.
3.To investigate the association between gout-related gene polymorphisms and clinical phenotypic heteroge-neity in gout patients from the Foshan region
Qihong GUO ; Baolin ZHENG ; Ting LI ; Yutong JIANG ; Junli CHEN ; Yuanyi LI ; Haimei YANG ; Junguang LU
The Journal of Practical Medicine 2025;41(19):3060-3064
Objective To investigate the association between gout-related gene polymorphisms and clinical phenotypic heterogeneity among gout patients in the Foshan region,thereby providing a scientific basis for stratified clinical management.Methods A total of 125 gout patients diagnosed at the Foshan Hospital of Traditional Chinese Medicine between June 2022 and May 2025 were enrolled in this study.The collected data included demo-graphic characteristics,frequency of gout attacks,presence of tophi,levels of uric acid,creatinine,C-reactive protein(CRP),erythrocyte sedimentation rate(ESR),gout-related genes(ABCG2,SLC2A9,SLC22A12,MTHFR),and joint ultrasound findings.Group comparisons and rank correlation analyses were conducted to explore potential associations between gene polymorphisms and clinical heterogeneity.Results The male-to-female ratio was 11∶1;the mean age was(35.28±2.67)years;the mean disease duration was(6.03±0.68)years;and the mean frequency of acute attacks in the past 12 months was 4(2.0,7.25).Genotype distributions were as follows:ABCG2:wild-type(C/C),23.8%;heterozygous(C/A),53.2%;homozygous(A/A),23%.SLC2A9:wild-type(A/A),24.6%;heterozygous(A/G),50%;homozygous(G/G),25.4%.SLC22A12:wild-type(A/A),4.8%;heterozygous(A/C),31.7%;homozygous(C/C),63.5%.MTHFR:wild-type(C/C),68.3%;heterozygous(C/T),28.6%;homozygous(T/T),3.2%.Rank correlation analysis revealed that SLC2A9 polymorphisms were significantly correlated with tophi formation(ρ=0.193,P=0.031)and crystal deposition on ultrasound(ρ=0.202,P=0.025).SLC22A12 polymorphisms were associated with hypertension(ρ=0.269,P=0.003)and diabetes(ρ=0.200,P=0.026).MTHFR polymorphisms showed a correlation with diabetes(ρ=0.224,P=0.012).Conclusions Polymorphisms in SLC2A9,SLC22A12,and MTHFR are significantly linked to clinical phenotypic heterogeneity among gout patients.Genetic testing could facilitate the early identification of individuals at high risk for complications and support the development of stratified and individualized treatment approaches.
4.Clinical characteristics of juvenile dermatomyositis in anti-nuclear matrix protein 2 antibody-positive patients and risk factors for severity: a national multicenter retrospective study
Huiyuan YANG ; Wanzhen GUAN ; Ling2 YANG ; Haimei LIU ; Xiaoqing3 LI ; Haiguo YU ; Meiping LU ; Jun YANG ; Xiaohui LIU ; Hongxia ZHANG ; Wei ZHANG ; Jihong XIAO ; Xiaozhong LI ; Guomin LI ; Hong CHANG ; Sheng HAO ; Yue DU ; Daliang XU ; Ling WU ; Wenjie ZHENG ; Li LIU ; Xinhui JIANG ; Shaohui ZHU ; Dongmei ZHAO ; Xuemei TANG ; Li SUN
Chinese Journal of Pediatrics 2025;63(12):1299-1305
Objective:To investigate the clinical characteristics and independent risk factors of severe disease in patients with anti-nuclear matrix protein (NXP) 2 antibody-positive juvenile dermatomyositis (JDM).Methods:A retrospective cohort study was conducted, including 219 anti-NXP2 antibody-positive JDM patients admitted to 23 children′s hospitals across China from July 2011 to July 2023. Patients were classified into severe and non-severe groups based on classification criteria for severe dermatomyositis. Demographic characteristics, clinical manifestations, and laboratory parameters were compared between the 2 groups using independent sample t-test, Mann-Whitney U test, or χ2 test. Univariate and multivariate Logistic regression analyses were performed to identify risk factors for severe disease. The receiver operating characteristic curve was employed to calculate optimal cut-off values. Results:Among the 219 patients, 108 were male and 111 were female, with an age at onset of 6.3 (3.5, 9.4) years. The severe group comprised 69 patients, and the non-severe group 150 patients. The severe group had significantly higher rates of fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, as well as elevated levels of ferritin-to-albumin ratio (FAR), creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) (all P<0.05). Multivariate analysis identified anti-Ro52 antibody positivity ( OR=13.26, 95% CI 1.37-128.29) and elevated FAR ( OR=1.90, 95% CI 1.09-2.31) as independent risk factors for severe anti-NXP2 antibody-positive JDM (both P<0.05). Receiver operating characteristic curve analysis revealed that a FAR cutoff value of 6.82 predicted severe disease with an area under the curve of 0.87 (95% CI 0.81-0.94, P<0.001), sensitivity of 0.85, and specificity of 0.70. All patients received glucocorticoid therapy, and the severe group received higher proportions of steroid pulse therapy, cyclophosphamide, mycophenolate mofetil, intravenous immunoglobulin, biologics, and adjuvant treatments compared to the non-severe group (all P<0.05). In terms of outcomes, 2 patients (2.9%) in the severe group died (due to neurological involvement and intestinal perforation, respectively), while the remaining patients achieved complete clinical response or remission. All patients in the non-severe group achieved remission. Conclusions:The primary clinical features of anti-NXP2 antibody-positive JDM included fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, and elevated levels of CK, AST, LDH, and FAR. Furthermore, anti-Ro52 antibody positivity and a FAR>6.82 were identified as independent risk factors.
5.Exercise intervention for spinal curvature abnormality in children and adolescents:a bibliometrics analysis
Xuan LI ; Peng DOU ; Xuanchao WANG ; Haimei JIANG ; Jingyi RAO ; Shuping QIAN ; Chuhuai WANG ; Yi XU
Chinese Journal of Rehabilitation Theory and Practice 2024;30(10):1140-1150
Objective To analyze the hotspots and frontiers of researches related to exercise intervention for spinal curvature abnor-malities in children and adolescents. Methods Articles related to exercise intervention for spinal curvature abnormalities in children and adolescents were re-trieved from CNKI and Web of Science Core Collection,from January,2014 to December,2023.The literatures were analyzed wtih CiteSapce 6.2.R3 in terms of disciplines,countries,institutes and keywords. Results A total of 233 articles were retrived,including 71 articles in Chinese and 162 articles in English.The annual pub-lication volume was on the rise.China was the country with the highest number of publications.South Korea was seen a sudden increase in recent literature.For Chinese,the institutions with the largest number of publication were the Department of Health and Exercise Science in Tianjin University of Sport and Luoyang Orthopedic-Traumatological Hospital of Henan Province(Henan Provincial Orthopedic Hospital).While the institutions with the largest number of publication in English were Marmara University and Hong Kong Polytechnic University.The English literatures covered a wide range of disciplines,including clinical medicine,sports medicine,neurolo-gy and psychology.Common high-frequency keywords in both Chinese and English literatures were idiopathic scoliosis,Cobb's angle and Schroth exercise.The latest bursting words included physical health in Chinese,and health-related quality of life and respiratory muscle strength in English. Conclusion The research popularity related to exercise intervention for spinal curvature abnormality in children and ado-lescents is generally on the rise.The research hotspots focus on four main areas:disease,quality of life,research advances and clinical treatment.More attention should be paid to the effect and dosage of exercise intervention on the respiratory function,as well as the effect of Chinese medicine exercise therapy on pediatric patients with abnormal spinal curvature diseases.Future work should focus on constructing an evidence-based Chinese/West-ern medicine exercise prevention and treatment system in the context of China's national conditions,advancing high-quality randomized controlled trials,strengthening interdisciplinary and international collaborations,and fo-cusing on the development and evaluation of personalized exercise intervention programs.
6.Inflammatory markers based on blood cell count predict functional outcomes in patients with acute ischemic stroke: construction and validation of a nomogram model
Haimei LIU ; Yu HAN ; Ying LIU ; Jianxin JIANG
International Journal of Cerebrovascular Diseases 2023;31(10):728-735
Objective:To investigate the value of inflammation markers based on blood cell count in the outcome assessment of acute ischemic stroke (AIS).Methods:Patients with AIS admitted to the Department of Neurology, Taizhou People's Hospital from January 2022 to April 2023 were included retrospectively. The demographic and clinical data of the patients were collected, particularly the related inflammatory markers based on blood cell count, including systemic inflammation response index (SIRI) and neutrophil/lymphocyte ratio (NLR). The patients included in the study were randomly divided into a modeling cohort and a validation cohort according to 7∶3. In the modeling cohort, the outcome assessment was performed based on the modified Rankin Scale score at 90 d after onset, and the score >2 was defined as poor outcome. Multivariate binary logistic regression model was used to screen for independent influencing factors on the outcome of patients with AIS. All independent influencing factors were included to construct a nomogram prediction model, and validate its predictive ability in the validation cohort. Results:A total of 389 patients with AIS were included and randomly divided into a modeling cohort ( n=272) and a validation cohort ( n=117) in 7:3. There was no significant difference in demographic and clinical data between the modeling cohort and the validation cohort. In the modeling cohort, 196 patients were in the good outcome group and 76 were in the poor outcome group. Multivariate logistic regression analysis showed that the baseline National Institutes of Health Stroke Scale score (odds ratio [ OR] 1.31, 95% confidence interval [ CI] 1.18-1.45; P<0.001), SIRI ( OR 1.64, 95% CI 1.04-2.58; P=0.033), NLR ( OR 1.18, 95% CI 1.02-1.36; P=0.024), smoking ( OR 2.51, 95% CI 1.16-5.46; P=0.020) and diabetes ( OR 2.48, 95% CI 1.13-5.48; P=0.024) were the independent risk factors for poor outcomes of patients with AIS. The above independent risk factors were included for drawing a nomogram prediction model. The receiver operating characteristic curve analysis showed that the area under the curve of the prediction model was 0.866 (95% CI 0.816-0.917), indicating that the model had good discrimination. The validation conducted in the validation cohort showed that the area under the curve of the prediction model was 0.884 (95% CI 0.804-0.964). The calibration curve and decision curve analysis also proved the reliability of the prediction model. Conclusions:SIRI and NLR are associated with poor outcomes of patients with AIS. The inclusion of SIRI and NLR in the nomogram model can accurately predict the risk of poor outcomes in patients with AIS.
7.Assessment of quality deviation of pork and salmon due to temperature fluctuations during superchilling.
Haoxin CUI ; Naymul KARIM ; Feng JIANG ; Haimei HU ; Wei CHEN
Journal of Zhejiang University. Science. B 2022;23(7):578-586
Superchilling is an emerging technology for meat preservation; however, the temperature changes during the process have been commonly ignored. Thus, the effects of temperature fluctuations on meat quality during superchilling are yet to be evaluated. In our study, pork loins and salmon fillets were stored for several days (0, 8, 15, 23, and 30 d) under different temperature fluctuations based on -3.5 ℃ as the target temperature. The results showed that after 15 d of superchilling storage, the values of total volatile basic nitrogen, total viable count, and lipid oxidation were significantly (P<0.05) altered in the ±2.0 ℃ fluctuation group compared with the constant temperature group. On the contrary, there was no significant difference in these parameters between the ±1.0 ℃ fluctuation group and the constant temperature group after 30 d of storage. In addition, irregular temperature changes significantly accelerated the modulation of various indicators. In brief, temperature fluctuations and irregular temperature changes accelerated the destruction of muscle structural integrity, increased the water loss, gradually widened the water loss channels, and thereby reduced the edibility by accelerating the spoilage of meat.
Animals
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Lipid Metabolism
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Pork Meat
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Red Meat
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Salmon
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Swine
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Temperature
8.Effect of Trendelenburg position and artificial pneumoperitoneum on change of respiratory mechanics in-dexes due to change of preset airway pressure in PCV
Shujun SUN ; Yanhua JIANG ; Haimei LIU ; Jun WANG
The Journal of Practical Medicine 2018;34(2):209-211,215
Objective In pressure controlled ventilation(PCV),a self-control method was used to ob-serve the change of respiration mechanics indexes under Trendelenburg position and pneumoperitoneum versus su-pine position and non-pneumoperitoneum with preset airway pressure.Methods Thirty patients scheduled for lapa-roscopic radical resection of rectal carcinoma were enrolled in this study.ECG,MAP,SpO2,BIS and body temper-ature were routinely detected. After induction of anesthesia,volume controlled ventilation(VCV)was used as ba-sic ventilation,and then switched to PCV after 5 minutes. The airway pressure was the preset airway pressure be-fore pneumoperitoneum,then was lowered 1 cmH2O in proper order,and then restored preset airway pressure and increased 1 cmH2O. 15 minutes after pneumoperitoneum,the airway pressure of PCV was used as preset airway pressure after pneumoperitoneum,and then the above procedure was repeated.The time interval was at least 5 min-utes.The values of MAP,HR,SpO2,VT and Cdyn were recorded at each time;VT,and Cdyn were continuously recorded five times to take the average value. The postoperative recovery in patients was observed. Results After pneumoperitoneum,the values of Cdyn and VT were significantly reduced(P < 0.01),MAP was increased(P <0.05). When the preset airway pressure changed 1 cmH2O,ΔVT was decreased(P < 0.05),and the change of Cdyn was not statistically significant. Conclusions As altering a unit of the preset airway pressure in PCV,the change in VT is significantly reduced but Cdyn does not change markedly in Trendelenburg posture and artificial pneumoperitoneum,as compared with supine position and non-pneumoperitoneum.
9.Relationship between gut microbiota and healthy aging :Research progress and future prospective
Qi ZHOU ; Liang SUN ; Haimei QI ; Menghua JIANG ; Ze YANG
Chinese Journal of Geriatrics 2018;37(12):1428-1432
Gut microbiota ,as the most important part of human microbial ecosystem ,develops with aging. For the past few years ,increasing studies focused on the potential association of microbiota with diseases and health of the total elderly population and found that multiple factors such as ageing , multiple medications ,life style ,diet ,etc.effectively affected the changes of gut microbiota.The changes of gut microbiota could be used in the future as a target for the comprehensive assessment ,dynamic surveillance or intervention therapy of frailty ,sarcopenia and chronic diseases. Therefore ,this review focused on gut microbiota composition ,influencing factors of gut microbiota ,the feature of gut microbiota in common geriatric diseases ,microbiota-based interventions therapy and the longevity microbial resources.
10.Analysis of types and metabolic profiles of hyperphenylalaninemia
Weihong ZENG ; Aiwu WU ; Xunjie XIE ; Haimei OUYANG ; Jinqun LIANG ; Nuan CHEN ; Shu LIU ; Sisi WEI ; Liying CHEN ; Jianhui JIANG
Chinese Journal of Applied Clinical Pediatrics 2018;33(8):572-575
Objective To study the characteristics of hyperphenylalaninemia (HPA) and the differences in blood and urine metabolic index and their correlation.Methods A total of 137 patients with HPA diagnosed by the Pediatric Inherit Metabolism and Endocrine Department,Guangdong Women and Children's Hospital,Guangzhou Medical University from January 2014 to June 2017,were enrolled.Tandem mass spectrometry (MS/MS),gas chromatography/ mass spectrometry (GC-MS) and high performance liquid chromatography (HPLC) were used to analyze the concentration of blood and urine metabolites in children,and the patients were divided into different groups according to the drug load test of tetrahydrobiopterin (BH4) and dihydrobiopterindine reductase (DHPR) deficiency.The HPA metabolite analysis of horizontal concentration by statistical differences and correlation analysis were performed.Results Among the 137 cases of HPA,there were 101 cases (73.7%) of phenylalanine hydroxylase deficiency (PAH),and among them 21 cases (15.3%) were classic phenylketonuria (PKU),37 cases were mild PKU (27.0%),43 cases (31.4%) wcrc mild HPA.Thcrc were 22 cases (16.1%) with BH4 reaction,and 79 cases (57.7%) of non-reactive type.Besides,there were 36 cases (26.3%) of tetrahydrobiopterin deficiency (BH4 D),of which 6-pyruvoyl tetrahydropterin synthase deficiency (PTPS) in 34 cases (24.8%) and dihydrobiopterindine reductase deficiency (DHPR) in 2 cases (1.5%).Urinary phenylacetic acid (r =0.673,P < 0.01),phenyllactic acid (r =0.736,P < 0.01),phenylpyruvic acid (r =0.642,P < 0.01) were significantly correlated with blood phenylalanine (Phe) concentration,and the neopterin (N) (r =0.442,P < 0.01) and biopterin (B) (r =0.398,P < 0.01) had low correlation.Urinary phenylacetic acid,phenyllactic acid and phenylpyruvic acid had no correlation with urinary pterin.There were significant differences among PTPS deficiency group,BH4 response type,and non-reactive type(all P < 0.05),but no significant difference between the BH4 reaction type and the non-reactive group (P > 0.05).Conclusions Through the analysis of the different types of HPA metabolic profiles,it can help to master the incidence and characteristics in the region,within a certain concentration range of blood Phe,the phenylacetic acid,phenyllactic acid,phenylpyruvic acid should not be tested by GC-MS alone.Uterine erythropoietin analysis of BH4D classification and identification of BH4 reaction,non-reactive PKU have a supporting role,so master the metabolic index of various types of concentration and relevance of HPA,it can provide basis for early diagnosis,accurate treatment and follow-up.

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