OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

Objective To investigate the effect of knockdown PRTN3 on polarization phenotype and anti-tumor function of macrophages in breast cancer.Methods A mouse monocyte/macrophage cell line(RAW264.7)with knockdown of PRTN3 was constructed.The mRNA and protein levels of PRTN3 were detected by RT-qPCR and flow cytometry.Macrophages were co-cultured with tumor cells,and the polarization phenotypes of macrophages were detected by flow cytometry,and the mRNA levels of polarization and cytokines related genes were detected by RT-qPCR.The tumor phagocytosis and tumor killing ability of macrophages were determined by in vitro phagocytosis assay and tumor killing assay.The effect of macrophages with PRTN3 knockdown on tumor progression and metasta-sis was compared in an orthotopic transplantation model of mouse breast cancer.Results The mRNA and protein levels of PRTN3 in the RAW264.7 cell line with stable knockdown of PRTN3 were significantly decreased(P＜0.01).Knockdown of PRTN3 in RAW264.7 cells upregulated the expression of M1 phenotype-related genes(CD80,CD86,iNOS,IL-1β,IL-6 and TNF-α)(P＜0.05).After macrophages co-culture with tumor cells,macrophages with knockdown of PRTN3 upregulated the expression of M1 phenotype-related genes(CD80,CD86,iNOS,IL-1β,IL-6 and TNF-α)(P＜0.01).Knockdown of PRTN3 enhanced the phagocyto-sis(P＜0.05)and tumor killing ability(P＜0.05)of macrophages in vitro.Adoptive transfusion of PRTN3-knockdown macrophages into tumor-bearing mice inhibited the growth of in situ breast cancer and reduced lung metastasis(P＜0.05).Conclusions PRTN3 regulates phenotypic polarization of macrophages,and knockdown of PRTN3 enhances the anti-tumor function of macrophages.

Objective:To compare the clinical efficacy of patients with chronic lateral rotational ankle instability(CLRAI) after all-inside arthroscopic lateral ligament augmentation procedure and Brostr?m procedure.Methods:This is a retrospective cohort study. The clinical and imaging data of 106 CLRAI patients were collected at the Xuzhou Central Hospital from January 2021 to December 2022. The patients included 55 males and 51 females with an age of (32.6±8.2) years (range: 16 to 50 years). All patients were treated under all-inside arthroscopic, and were divided into Brostr?m-Gould surgery group ( n=54) and Brostr?m surgery group ( n=52) according to different ligament repair methods. At 3, 6, and 12 months after surgery, ankle inversion stress tests and anterior drawer tests were used to examine the stability of the ankle joint and observe gait. The American Orthopedic Foot and Ankle Society ankle hindfoot scale (AOFAS-AH) and Karlsson ankle function score (KAFS) were used to assess ankle function; Tegner score was used to assess the patient′s level of exercise; the foot and ankle outcome score(FAOS)(including score of symptoms,pain,function, daily living,function, sports and recreational activities (sport); quality of life (QOL) was used to assess the patient′s daily activity ability. Comparisons of data were made using independent sample t test, repeated measures analysis of variance, LSD- t multiple comparison method, χ2 test or Mann-Whitney U test. Results:All operations were successfully accomplished. All incisions healed by first intention, without evidence of postoperative complications of implant rejection, ligation reaction, and nerve and vessel injury. All patients were followed up at 3, 6, and 12 months after surgery. Ankle varus stress test and anterior drawer test were negative. No evidence supporting lateral ankle instability was obtained. All patients eventually regained normal gait. No patients underwent revision surgery. Repeated measurement analysis of variance showed that AOFAS-AH, Tegner, KAFS and FAOS scores in the Brostrom-Gould group and the Brostrom group were significantly higher than those before surgery ( P<0.01). The change trends of Tegner score and FAOS-sport score were significantly different between the two groups ( F=18.839, P<0.01; F=8.169, P=0.005). Multiple comparisons revealed that at 3-, 6-and 12-month follow-up, the Tegner scores (3 months: 3.7±0.5 vs. 3.3±0.5, t=-3.980, P<0.01; 6 months: 4.4±0.6 vs. 3.8±0.7, t=-4.792, P<0.01; 12 months: 5.8±0.9 vs. 5.1±1.0, t=-3.889, P<0.01), sport scores (3 months: 82.5±3.7 vs. 79.3±3.8, LSD- t=-4.316, P<0.01; 6 months: 88.5±4.9 vs. 85.7±3.8, LSD- t=-3.312, P=0.001;12 months: 90.1±4.3 vs. 88.2±5.1, LSD- t=-2.112, P=0.037) in the Brostr?m-Gould surgery group were higher than those in the Brostr?m surgery group, with statistical significances. Conclusions:Both Brostr?m-Gould and Brostr?m procedures under all-inside arthroscopic can make ankle stability and improve ankle function in the treatment of CLRAI. However, the former maybe shorten the time to return to exercise and achieve higher motor function.

Objective To analyze the risk factors and clinical characteristics of uveitis in children with juvenile idiopathic arthritis (JIA).Methods A retrospective case-control study was conducted on 30 children with JIA-associated uveitis (JIA-U )and 36 age-and gender-matched children diagnosed as simple JIA admitted to Children's Hospital of Chongqing Medical University from June 2016 to June 2023.The clinical data,laboratory indicators and radiological findings were collected,and analyzed for the risk factors for JIA-U with univariate and multivariate analysis.Results In this study,JIA-U mostly occurred in both eyes (63.3％,19/30),with anterior uveitis as the main cause (86.7％,26/30),insidious onset,and mostly occurred after JIA diagnosis (60.0％,18/30),and only 30％ showing ocular discomfort or visual impairment.Univariate analysis showed that the JIA children with oligoarthritis JIA,negative rheumatoid factor (RF)and negative anti-cyclic citrullinated peptide antibody (anti-CCP)were prone to be complicated with uveitis (P<0.05 ). Multivariate logistic regression analysis indicated that RF negativity was an independent risk factor for development of JIA-U (OR=5.400,95％ CI:1.033～28.227,P=0.046). Conclusion JIA-U of ten develops in both eyes,anterior uveitis is the most common,and it mostly diagnosed after JIA.It has no obvious eye symptoms in the early stage and thus is not easily recognized.Oligoarthritis JIA,RF-negative,and anti-CCP antibody-negative are the high-risk factors for the complication of JIA-U in children with JIA.

Deep vein thrombosis(DVT)is a common complication after surgery for lower limb fracture.It has the features of high morbidity,high disability rate and high mortality.At present,the measures for clinical prevention and treatment of post-operative DVT in lower limb fracture mainly include perioperative nursing,intervention with medical auxiliary instruments,western medicine prevention and treatment,traditional Chinese medicine(TCM)intervention,and patients'self-cooperation.The patients'self-cooperation is the basis for the smooth implementation of other measures for prevention and treatment,and the patients'active cooperation is the premise of achieving the efficacy of prevention and treatment.Perioperative nursing is helpful for the patients to understand the risk factors of postoperative DVT and the possible risks after the occurrence of DVT,guides the patients to choose the food,assists the patients to do postoperative exercises,improves the level of patients'hemorheological indexes,and reduce the incidence of postoperative DVT.Medical devices are helpful for assisting patients to do postoperative rehabilitation exercises,improving the levels of hemodynamic indicators,promoting patients'rehabilitation and reducing the incidence of postoperative DVT.Western medicines such as low molecular weight heparin,Rivaroxaban,Enoxaparin and other anticoagulant drugs can reduce the aggregation of coagulation factors and blood viscosity,and reduce the incidence of postoperative DVT.TCM interventions mainly include oral administration of Chinese medicine and external treatment such as acupuncture,moxibustion and massage.Oral administration of Chinese medicine is helpful for improving blood flow status.Acupuncture,moxibustion and massage are beneficial to the activation of the function of zang-fu organs,and can stimulate the healthy qi to improve the qi-blood state of the whole body.Each method of prevention and treatment has its advantages and disadvantages.In clinical application,reasonable prevention and treatment methods should be selected according to the specific conditions and individual conditions of the patients.TCM intervention of DVT can be performed in patients with lower limb fracture before and after surgery,and has the advantages of low cost and definite efficacy,which is worthy of continuous research and inheritance and innovation.

Objective:To compare the efficacy of Kirschner wire fixation combined with Suture-Bridge technique and simple Kirschner wire fixation in the treatment of old lateral malleolar avulsion fractures under all-inside arthroscopy.Methods:A retrospective cohort study was conducted to analyze the clinical data of 56 patients with old lateral malleolar avulsion fractures, admitted at Xuzhou Central Hospital from January 2018 to June 2022, including 32 males (32 feet) and 24 females (24 feet), aged 19-57 years [(35.2±11.1)years]. Twenty-five patients were treated with Kirschner wire fixation under all-inside arthroscopy (K-wire group), while the other 31 patients were treated with Kirschner wire fixation combined with Suture-Bridge technique under all-inside arthroscopy (K-wire combined with suture group). The surgical time, incision healing at 2 weeks after surgery, and fracture healing rate at 6 months after surgery of the two groups were detected. The American Orthopedic Foot and Ankle Society (AOFAS) ankle-hindfoot scores, and foot and ankle ability measure (FAAM) scores [including activities of daily living (ADL) scores and sports function (S) scores] of the two groups were assessed before surgery, at 3, 6 months after surgery, and at the last follow-up. The anterior drawer test was performed at 3, 6 months after surgery and at the last follow-up. The time of return to sports after surgery and complication rates were also recorded.Results:All the patients were followed up for 12-18 months [(14.2±2.2)months]. The surgical time in the K-wire combined with suture group was (56.3±12.5)minutes, longer than (41.1±8.2)minutes in the K-wire group ( P<0.01). The incisions in both groups were healed by first intention at 2 weeks after surgery. In the K-wire combined with suture group, all the fractures were healed at 6 months after surgery (100%), while in the K-wire group 22 patients (88%) obtained fracture healing ( P<0.05). There were no statistically significant differences in the AOFAS ankle-hindfoot scores, FAAM-ADL scores, or FAAM-S scores between the two groups preoperatively ( P>0.05). At 3, 6 months after surgery, and at the last follow-up, the AOFAS ankle-hindfoot scores in the K-wire combined with suture group were (89.7±3.4)points, (92.8±2.8)points, and (94.9±3.3)points respectively, higher than (87.4±4.4)points, (90.4±4.1)points, and (92.5±4.6)points in the K-wire group ( P<0.05); the FAAM-ADL scores and the FAAM-S scores in the K-wire combined with suture group were (90.1±3.5)points, (91.5±2.9)points, (92.8±3.0)points and (91.4±5.4)points, (92.8±5.0)points, (94.4±4.8)points respectively, higher than (86.8±5.0)points, (88.7±3.8)points, (90.3±3.7)points and (88.0±5.3)points, (89.5±4.8)points, (91.5±5.2)points ( P<0.05 or 0.01). The AOFAS ankle-hindfoot scores, FAAM-ADL scores, and FAAM-S scores at all postoperative time points were higher than those preoperatively and increased with the passage of the follow-up time ( P<0.01). The results of the anterior drawer test at all postoperative time points in the two groups were negative. The time of return to sports after surgery in the K-wire combined with suture group was (9.2±1.3)weeks, shorter than (10.3±1.5)weeks in the K-wire group ( P<0.01). One patient (3.2%) in the K-wire combined with suture group and 3 patients (12.0%) in the K-wire group had Kirschner wire loosening and withdrawal ( P>0.05). Neither of the two groups developed complications such as nerve or tendon injuries. Conclusion:Compared with simple Kirschner wire fixation under all-inside arthroscopy, Kirschner wire fixation combined with Suture-Bridge technique under all-inside arthroscopy achieves higher fracture healing rate, more obvious improvement in life quality and ankle function, as well as earlier return to sports in the treatment of old lateral malleolar avulsion fractures.

Objective:To analyze the clinical characteristic of systemic juvenile idiopathic arthritis (sJIA) patients with Kawasaki disease like onset symptom.Methods:A case-control study was performed. A total of 24 patients with sJIA with Kawasaki disease-like symptoms at the Department of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University from January 2018 to August 2024 were selected as the Kawasaki disease combined with sJIA group. A total of 96 patients with Kawasaki disease as the Kawasaki disease group and 83 patients with sJIA were selected as the sJIA group. The general information, clinical manifestations, laboratory examinations and complications of the patients were compared among the 3 groups. Differences between groups were assessed by Mann-Whitney U test or Kruskal-Wallis H test and Chi-square test or Fisher's exact test. Results:There were significant differences in age and fever course between Kawasaki disease combined with sJIA groups, Kawasaki disease groups, and sJIA groups (3.4 (2.5, 7.3) vs. 3.4 (1.9, 4.8) vs. 8.8 (5.1, 11.7) years, 24.5 (18.0, 37.3) vs. 23.0 (18.0, 31.0) vs. 7.0 (6.0, 8.0) d, Z=67.09, 138.24, both P<0.05). Among the 24 cases of Kawasaki disease combined with sJIA, 20 cases (83%) had joint symptoms and 9 cases (38%) had conjunctival congestion. There were significant differences in the incidence of coronary artery injury between Kawasaki disease combined with sJIA group, Kawasaki disease group and sJIA group (58% (14/24) vs. 44% (42/96) vs. 6% (5/83), χ2=40.50, P<0.05). There were significant differences in the risk of macrophage activation syndrome between Kawasaki disease combined with sJIA group, sJIA group and Kawasaki disease group (17% (4/24) vs. 10% (8/83) vs. 0, P<0.05). In the Kawasaki disease combined with sJIA group, 11 cases (46%) did not respond after 2 courses of intravenous immunoglobulin (IVIG) treatment, and 21 cases (88%) used glucocorticoids. The use rate of high-dose hormones in the Kawasaki disease combined with sJIA group was higher than that in the sJIA group (29% (7/24) vs. 5% (4/83), χ2=12.95, P<0.05). In the group of Kawasaki disease combined with sJIA group, 17 cases (71%) used biological agents, 1 case used adalimumab, and 16 cases received tocilizumab treatment, of which 4 cases were allergic to tocilizumab. In the group of Kawasaki disease combined with sJIA, 11 cases (46%) treated with tocilizumab were followed up regularly for 1 month, and 10 cases were effective. Conclusions:Children with sJIA who present with Kawasaki disease-like clinical symptoms have clinical features of Kawasaki disease and sJIA. Children with Kawasaki disease who present at a young age, have a long fever course, are accompanied by joint symptoms, and are IVIG-resistant need to be alert to the possibility of sJIA and receive timely treatment with hormones and biological agents.

Objective:To develop, validate and initially apply a joint function and health assessment scale for juvenile idiopathic arthritis patients.Methods:The first draft of the juvenile idiopathic arthritis joint function and health assessment scale was developed through literature analysis, discussion by the research team, semi-structured interviews, Delphi expert correspondence. From March to June 2024, a total of 260 children with juvenile idiopathic arthritis or their parents were prospectively recruited from Department of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University by convenience sampling method for pre-investigation and formal investigation.The reliability and validity of the scale were tested by item analysis, reliability analysis, exploratory factor analysis, content validity and criterion validity analysis, and the responsiveness of the scale to clinical changes was evaluated by estimating the minimum clinically important difference, and finally the formal scale was formed.Results:The juvenile idiopathic arthritis joint function and health assessment scale included disease activity assessment, daily activity and function assessment, pain, fatigue and disease outcome assessment, with a total of 5 dimensions and 24 items, in which the functional assessment subscale included 4 secondary dimensions and 18 items. The Cronbach′s α coefficient of the function assessment subscale was 0.88, the fold-half reliability was 0.86, and the test-retest reliability after 2-4 weeks was 0.84; the item-level content validity index was 0.80-1.00, and the scale-level content validity index was 0.93. Exploratory factor analysis extracted 4 common factors with a cumulative variance contribution of 70.0%. Preliminary application indicated the functional assessment subscale was moderately correlated with childhood health assessment questionnaire ( r=0.70, P<0.05), the total scale was strongly correlated with juvenile arthritis disease activity score-27 ( r=0.92, P<0.05), and moderately correlated with both active and limited joint count ( r=0.77, 0.68, both P<0.05). Reactivity analysis suggested that the minimum clinically important difference between the two visits of 41 children with clinical improvement and 25 children with disease activity was 0.49 (0.44, 0.54) and 0.51 (0.43, 0.58). Conclusion:The juvenile idiopathic arthritis joint function and health assessment scale has good reliability and validity, and has certain responsiveness to clinical changes, is simple and operable, and can be used as a tool for assessing joint function in children with juvenile idiopathic arthritis.

Objective To investigate the impact of the MAFB transcription factor on macrophage polarization phe-notype and function.Methods Analysis of correlation of MAFB expression with survival period of patients of breast cancer and lung adenocarcinoma was performed by RNA-seq data from the Kaplan-Meier database.Flow cytometry was applied to detect MAFB expression in primary human monocytes.Expression of MAFB mRNA or protein of hu-man acute monocytic leukaemia cell line(THP-1)was detected by RT-qPCR or Western blot.Detection of macro-phages phenotypes was performed by macrophages polarization in vitro,co-culture,RT-qPCR and flow cytometry.Phagocytosis assay was used to assess changes in phagocytic ability of macrophages.In vitro killing assay to evaluate changes in tumor-killing ability of macrophages.Results Compared to the MAFB low-expression group,patients with high MAFB expression in breast cancer and lung adenocarcinoma exhibited a decreased survival period(P＜0.05).Protein interaction networks showed a correlation between MAFB protein and macrophage polarization proteins.Compared to other cell type,MAFB was specifically highly expressed in human monocyte-macrophage cells.Phorbol myristate ester(PMA)induced an increased MAFB expression in THP-1 cells(P＜0.05).Knockdown of MAFB inhibited the expression of M2-related genes(P＜0.05).Co-culture with tumor cells and knockdown of MAFB suppressed expression of polarization gene(P＜0.05).Knockdown of MAFB did not affect the phagocytic ability P＞0.05)but enhanced tumor-killing ability of macrophages(P＜0.05).Conclusions This investigation proves potential function of MAFB transcription factor in regulation of macrophage M2 polarization and anti-tumor effect in solid tumors.

Objective:To compare the clinical efficacy of patients with chronic lateral rotational ankle instability(CLRAI) after all-inside arthroscopic lateral ligament augmentation procedure and Brostr?m procedure.Methods:This is a retrospective cohort study. The clinical and imaging data of 106 CLRAI patients were collected at the Xuzhou Central Hospital from January 2021 to December 2022. The patients included 55 males and 51 females with an age of (32.6±8.2) years (range: 16 to 50 years). All patients were treated under all-inside arthroscopic, and were divided into Brostr?m-Gould surgery group ( n=54) and Brostr?m surgery group ( n=52) according to different ligament repair methods. At 3, 6, and 12 months after surgery, ankle inversion stress tests and anterior drawer tests were used to examine the stability of the ankle joint and observe gait. The American Orthopedic Foot and Ankle Society ankle hindfoot scale (AOFAS-AH) and Karlsson ankle function score (KAFS) were used to assess ankle function; Tegner score was used to assess the patient′s level of exercise; the foot and ankle outcome score(FAOS)(including score of symptoms,pain,function, daily living,function, sports and recreational activities (sport); quality of life (QOL) was used to assess the patient′s daily activity ability. Comparisons of data were made using independent sample t test, repeated measures analysis of variance, LSD- t multiple comparison method, χ2 test or Mann-Whitney U test. Results:All operations were successfully accomplished. All incisions healed by first intention, without evidence of postoperative complications of implant rejection, ligation reaction, and nerve and vessel injury. All patients were followed up at 3, 6, and 12 months after surgery. Ankle varus stress test and anterior drawer test were negative. No evidence supporting lateral ankle instability was obtained. All patients eventually regained normal gait. No patients underwent revision surgery. Repeated measurement analysis of variance showed that AOFAS-AH, Tegner, KAFS and FAOS scores in the Brostrom-Gould group and the Brostrom group were significantly higher than those before surgery ( P<0.01). The change trends of Tegner score and FAOS-sport score were significantly different between the two groups ( F=18.839, P<0.01; F=8.169, P=0.005). Multiple comparisons revealed that at 3-, 6-and 12-month follow-up, the Tegner scores (3 months: 3.7±0.5 vs. 3.3±0.5, t=-3.980, P<0.01; 6 months: 4.4±0.6 vs. 3.8±0.7, t=-4.792, P<0.01; 12 months: 5.8±0.9 vs. 5.1±1.0, t=-3.889, P<0.01), sport scores (3 months: 82.5±3.7 vs. 79.3±3.8, LSD- t=-4.316, P<0.01; 6 months: 88.5±4.9 vs. 85.7±3.8, LSD- t=-3.312, P=0.001;12 months: 90.1±4.3 vs. 88.2±5.1, LSD- t=-2.112, P=0.037) in the Brostr?m-Gould surgery group were higher than those in the Brostr?m surgery group, with statistical significances. Conclusions:Both Brostr?m-Gould and Brostr?m procedures under all-inside arthroscopic can make ankle stability and improve ankle function in the treatment of CLRAI. However, the former maybe shorten the time to return to exercise and achieve higher motor function.