Objective:To summarize the clinical and genetic characteristics of early-onset spinocerebellar ataxia type 5 (SCA5) caused by SPTBN2 gene mutation. Methods:The clinical and genetic data of a child with early-onset SCA5 diagnosed in the Department of Children′s Rehabilitation, Women and Children′s Hospital Affiliated to Qingdao University in February 2022 were retrospectively analyzed. The literatures related to early-onset SCA5 in major databases at home and abroad were retrieved and summarized.Results:The patient, a 4 years and 1 month old girl, was admitted to hospital because of "unable to stand independently at 2 years and 3 months", primarily presented with developmental delay, ataxia, hypotonia, and tendon hyperreflexia during infancy. Progressive cerebellar atrophy was observed on brain magnetic resonance imaging. A de novo heterozygous mutation of the SPTBN2 c.793G>C(p.Asp265His) was identified in the patient. Following hospitalization, the child received comprehensive rehabilitation therapy encompassing physical, occupational, language, educational interventions as well as bicycle ergometer training and transcranial magnetic stimulation. The patient was followed-up for more than 1 year to 4 years and 1 month old, whose motor function, cognitive abilities, and language skills were improved to some extent. A total of 13 English articles and 1 Chinese article were retrieved from the databases. A total of 20 early-onset SCA5 patients have been reported, with onset ages all within 12 months. Infants exhibited decreased muscle tone and delayed motor milestones, with the main clinical manifestations of ataxia, generalized developmental delay, and cerebellar atrophy. The previously reported cases involved 11 mutation sites in the SPTBN2 gene, and the main types of mutations were de novo missense mutations. The mutation site in this case has not been reported in the previous literature. Conclusions:Early-onset SCA5 is a rare autosomal dominant disorder caused by heterozygous mutations in the SPTBN2 gene. The main clinical manifestations include ataxia from infancy, developmental retardation and cerebellar atrophy. Early rehabilitation intervention can improve the degree of the dysfunction.

Objective:To investigate the relationship and assess the value of serum polyadenosine diphosphate ribose polymerase 1 (PARP1) and forkhead box transcription factor O1 (FOXO1) with cerebral neurological function in patients with severe craniocerebral injury (SCI).Methods:The clinical data of 100 patients with SCI from February 2021 to October 2022 in Baoji High-Tech Hospital were retrospectively analyzed. The Glasgow coma score (GCS) on admission was recorded. According to the modified Rankin score (mRS) 3 months after discharge, the patients were divided into good recovery group (mRS 0 to 2 scores, 62 cases) and poor recovery group (mRS 3 to 5 scores, 38 cases). In addition, 50 individuals who underwent physical examinations in Baoji High-Tech Hospital during the same period were selected as the control group. The serum levels of PARP1 and FOXO1 were measured by enzyme-linked immunosorbent assay. Correlation analysis was performed using Spearman method. Multifactor Logistic regression was used to analyze the independent risk factors for poor cerebral neurological recovery in patients with SCI. The efficacy of PARP1 and FOXO1 in predicting the poor cerebral neurological recovery in patients with SCI was evaluated by the receiver operating characteristic (ROC) curve.Results:The PARP1 and FOXO1 in good recovery group and poor recovery group were significantly higher than those in control group: (4.14 ± 1.19) and (5.98 ± 1.02) μg/L vs. (2.13 ± 0.71) μg/L, (5.83 ± 1.22) and (7.57 ± 3.12) μg/L vs. (4.23 ± 1.34) μg/L, the indexes in poor recovery group were significantly higher than those in good recovery group, and there were statistical differences ( P<0.05). The mRS in poor recovery group was significantly higher than that in good recovery group: (3.92 ± 0.87) scores vs. (1.03 ± 0.80) scores, and there was statistical difference ( P<0.05). Spearman correlation analysis result showed that PARP1 and FOXO1 were positively correlated with mRS score in patients with SCI ( r = 0.673 and 0.646, P<0.05). Multifactor Logistic regression analysis result showed that the GCS, mRS, PARP1 and FOXO1 were independent risk factors for poor neurological recovery in patients with SCI ( HR = 1.039, 1.286, 1.439 and 1.389; 95% CI 1.003 to 1.076, 1.011 to 1.637, 1.029 to 2.012 and 1.009 to 1.912; P<0.05). ROC curve analysis result showed that the area under the curve (AUC) of PARP1 combination with FOXO1 in assessing poor cerebral neurological recovery in patients with SCI was significantly greater than the PARP1 and FOXO1 alone: 0.953 (95% CI 0.918 to 0.988) vs. 0.866 (95% CI 0.796 to 0.936) and 0.859 (95% CI 0.783 to 0.935), Z = 2.162 and 2.188, P = 0.031 and 0.029. Conclusions:The serum PARP1 and FOXO1 levels in patients with SCI are positively correlated with cerebral neurological recovery, and they have predictive value for cerebral neurological recovery status.

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 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.

With the improvement of China's socioeconomic status,the issue of aging has become increasingly prominent,making cerebral infarction a common disease among the elderly.In recent years,research on cerebral infarction has gradually deepened,shifting focus from merely protecting and repairing neurons to emphasizing the complex interplay between inflammatory response and autophagy in the brain vascular unit,covering various aspects such as the blood-brain barrier,astrocytes,microglia,and autophagy.This shift in research direction has provided us with a profound understanding of the mechanisms underlying cerebral infarction,offering strong support for innovative future treatment strategies.In this review,we delved into the importance of the interplay between inflammatory response and autophagy in the pathogenesis of cerebral infarction,emphasized the intricate interactions among these biological components,which might lay the groundwork for more effective managements and treatments of cerebral infarction.By comprehensively reviewing existing literatures,we proposed future research directions,aiming to provide more scientific and systematic guidance for the clinical management and treatment of cerebral infarction.

Ethnic medicine has a rich history of application. Because of the large number of ethnic groups, wide geographical distribution, and unique medical systems in China, the research on the human use experience(HUE) of ethnic medicine should combine the characteristics of ethnic medicine, be based on practical experience, and respect folk practice and tradition. The clinical positioning of ethnic medicine should consider three factors, i.e., population region, dominant diseases, and clinical demand. We should consider the development of traditional preparations that meet the needs of ethnic regions and encourage the development of new drugs that can be popularized and used nationwide for the dominant diseases of ethnic medicines. Attention should be paid to the problems such as a large number of customary articles or substitutes of ethnic medicinal materials, the phenomena of foreign bodies with the same name and different names for the same substance, the different standards of medicinal materials, and the poor processing standards. The name, processing method, source, medicinal parts, and dosage of ethnic medicinal materials or decoction pieces should be determined, and resources should be carefully evaluated to ensure the safety of medicinal resources and ecology. The preparation of ethnic medicine is mostly in the form of pills, powder, ointment, etc., with simple processing technology. The problems of low-quality stan-dards of some preparations, different prescriptions with the same name, and inconsistent processing technology should be overcome, and the process route and main process parameters should be clarified to lay the foundation for the subsequent empirical research on HUE. In the collection and analysis of the HUE data of ethnic medicine, the core guiding ideology of "patient-centered" should be established, and the experience data of patients should be collected. The problems of weak links existing in the inheritance of ethnic medicine should be solved, and flexible and diverse methods should be adopted. Meanwhile, on the premise of complying with the requirements of the principles of medical ethics, we should respect the religion, culture, and customs of ethnic areas to obtain the key HUE information of ethnic medicine. On the basis of the patient preference information and differences in regional disease epidemiology, population characteristics, and medical practice, whether the HUE conclusions of ethnic medicine can be extrapolated to patients outside the region is evaluated from the aspects of clinical benefits, risk tolerance, risk acceptance, etc. The HUE research on ethnic medicine is carried out in a clear way to guide the research and development of new ethnic medicines.
Humans ; Medicine, Chinese Traditional ; China ; Reference Standards ; Technology ; Drugs, Chinese Herbal/therapeutic use*

OBJECTIVES: To study the expression levels of CD4⁺NKG2D⁺ T cells and NKG2D soluble ligands, the soluble MHC class I chain-related molecules A and B (sMICA/sMICB) in the active stage and stable stage of juvenile idiopathic arthritis (JIA) and their role in the disease activity of JIA. METHODS: Nineteen children with systemic JIA and 20 children with articular JIA who were diagnosed in Children's Hospital of Chongqing Medical University from November 2019 to December 2021 were enrolled in this prospective study. Six healthy children were enrolled as the control group. After peripheral blood samples were collected, ELISA was used to measure the levels of sMICA and sMICB, and flow cytometry was used to measure the percentage of CD4⁺NKG2D⁺ T cells. Systemic Juvenile Arthritis Disease Activity Score-27 (sJADAS-27)/Juvenile Arthritis Disease Activity Score-27 (JADAS-27) was used to evaluate the disease activity in children with JIA. The Pearson correlation analysis and the receiver operating characteristic (ROC) curve were used to assess the role of CD4⁺NKG2D⁺ T cells, sMICA and sMICB in the disease activity of JIA. RESULTS: The active systemic JIA and active articular JIA groups had a significant increase in the percentage of CD4⁺NKG2D⁺ T cells compared with the control group and their corresponding inactive JIA group (P<0.05). The JIA groups had significantly higher levels of sMICA and sMICB than the control group (P<0.05), and the active articular JIA group had a significantly higher level of sMICB than the stable articular JIA group (P<0.05). In the children with JIA, the percentage of CD4⁺NKG2D⁺ T cells and the levels of sMICA and sMICB were positively correlated with sJADAS-27/JADAS-27 disease activity scores (P<0.05). The ROC curve analysis showed that sMICB had an area under the curve of 0.755 in evaluating the disease activity of JIA, with a specificity of 0.90 and a sensitivity of 0.64. CONCLUSIONS The percentage of CD4⁺NKG2D⁺ T cells and the levels of sMICA and sMICB increase in children with JIA compared with healthy children and are positively correlated with the disease activity of JIA, suggesting that CD4⁺NKG2D⁺ T cells and NKG2D ligands can be used as potential biomarkers for evaluating the disease activity of JIA.
Child ; Humans ; Arthritis, Juvenile/pathology* ; Ligands ; NK Cell Lectin-Like Receptor Subfamily K ; Prospective Studies ; T-Lymphocytes/pathology*

Objective:To evaluate the clinical effects of adjustable traction skin stretchers used in repair of wounds at the lower leg, foot and ankle.Methods:A retrospective study was performed to analyze the clinical data of 56 patients who had been treated for skin defects at the lower leg, foot and ankle from August 2016 to September 2022 at The First Affiliated Hospital of Zhengzhou University, Honghui Hospital, Affiliated to Xi'an Jiaotong University Medical College, The First Affiliated Hospital of Henan Polytechnic University, and Yunnan Zhongde Orthopedic Hospital. There were 35 males and 21 females, aged (39.9±18.7) years. There were 43 traumatic wounds, 3 burns, 6 inflammatory wounds, 3 relief incisions due to osteofascial compartment syndrome, and 1 scar. The areas of skin defect ranged from 2.5 cm × 2.0 cm to 20.0 cm × 10.0 cm. The duration of wounds was (8.6±7.8) d. All the wounds were repaired with adjustable traction skin stretchers. The row-hook type of skin stretchers was used in 28 cases, the single-rod type in 20 cases, the single-rod type combined with an external fixator in 5 cases, and a combination of the row-hook type and the single-rod type in 3 cases.The time for wound traction closure, color of wound skin margin, skin swelling around the wound, functional recovery of affected limb and complications were recorded.Results:The time from skin stretching to wound closure was (7.8±3.8) d in the 56 patients. The color of wound skin edge after stretching was normal in 16 cases, dark red in 38 cases, and dark in 2 cases; the skin swelling around the wound was degree 1 in 21 cases, degree 2 in 33 cases, and degree 3 in 2 cases. The 56 patients were followed up for (8.9±4.1) months. Primary wound closure was achieved in 48 patients, and secondary wound closure in 8 patients after repair with an autologous skin graft. Partial skin necrosis occurred due to tension blisters after skin stretching in 2 patients, one of whom was repaired with an autologous skin graft and the other of whom by dressing change. Deep bone infection recurred in 2 patients whose wounds healed after their bone defects were repaired using Ilizarov technique of bone transfer. In the 56 patients, the muscle strength of the lower extremity beyond the wound was recovered to normal, and the range of motion of the joints adjacent to the wound also recovered to normal.Conclusion:In repair of wounds at the lower leg, foot and ankle, adjustable traction skin stretchers can lead to fine clinical effects and limited complications, because the stretchers can control the tension of skin digitally and precisely.

Objective:To investigate the early curative effects of robot-assisted total knee arthroplasty (TKA) in the treatment of valgus knee.Methods:A retrospective study was conducted to analyze the data of 40 patients with valgus knee who had been treated by TKA at Department of Orthopaedics, The 920th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army from January to December 2021. The patients were divided into 2 groups according to whether a robot had been used or not for TKA. In the observation group of 15 cases for which TKA was assisted by a robot, there were 4 males and 11 females with an age of (65.5±6.2) years, and the disease course was 42 (36, 54) months; in the control group of 25 cases for which conventional TKA was performed, there were 8 males and 17 females with an age of (65.8±7.5) years, and the disease course was 42 (36, 60) months. Surgical time, hemoglobin decrease, and knee joint range of motion, American Knee Society Score (KSS), hip-knee-ankle angle (HKA), lateral distal femoral angle (LDFA), and medial proximal tibial angle (MPTA) at 12 months after surgery were compared between the 2 groups.Results:There was no significant difference in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). The surgical time in the observation group was (148.0±21.2) min, significantly longer than that in the control group [(115.2±7.1) min], and the hemoglobin decreased by (11.8±1.1) g/L in the observation group, significantly less than that in the control group [(18.1±1.8) g/L] ( P<0.05). The observation group and the control group were followed up for 13 (13, 14) and 13 (13, 14) months after surgery, respectively, showing no statistically significant difference ( P>0.05). At 12 months after surgery, the KSS knee score, KSS functional score, and knee range of motion in the observation group were (86.1±4.6) points, (86.9±3.1) points, and 115.7°±5.0°, significantly larger than those in the control group [(82.2±3.5) points, (82.8±0.9) points, and 108.2°±5.0°] ( P<0.05). Reexamination of full-length radiographs of both lower limbs in all patients showed good positions of the prostheses and no such adverse events as loosening or sinking at 12 months after surgery. The HKA (178.5°±1.2°) and LDFA (89.1°±0.7°) at 12 months after surgery in the observation group were significantly larger than those in the control group (176.6°±1.5°, 88.2°±8.2°) ( P<0.05); there was no statistically significant difference in MPTA between the 2 groups ( P>0.05). Conclusions:In the treatment of valgus knee, robot-assisted TKA can correct joint deformity, and achieve precise osteotomy and functional alignment of lower limbs, leading to better early curative effects than conventional TKA.