Objective: To explore the effects of group sports game intervention on social ability and quality of life of children with austism spectrum disorders (ASD),so as to provide reference for rehabilitation intervention of social and quality of life of children with ASD. Methods: From September 2021 to January 2022, 72 children with ASD aged 4-6 in the children s rehabilitation department of Xiangyang Central Hospital were selected to participate in the study, and were randomly divided into experimental group ( n =36) and control group ( n =36). The control group received routine rehabilitation training (including individual sports game training), and the experimental group replaced individual sports game training with group sports game training on the basis of routine rehabilitation.The course content mainly included three parts: warm up before class, group sports games and relaxation after class. The course combined social skills with sports games, and was carried out in a group form (divided into 12 groups with 3 people in each group), and was trained five times a week for 60 minutes, for a total of 12 weeks. The scores of Childhood Autism Rating Scale (CARS), Autism Treatment Evaluation Checklist (ATEC), Social Responsiveness Scale (SRS) and Pediatric Quality of Life Inventory Version 4.0 Generic Core Scales (PedsQL 4.0) were observed before and after treatment. t-test and χ 2 test were used for statistical analysis. Results: There was no significant difference in SRS scores between the experimental group and the control group before intervention ( t =-0.63, P >0.05). After the intervention, the total response rate in the experimental group was 83.33 %, higher than 41.67% in the control group χ 2=13.33, P <0.05),and the SRS scores decreased in the experimental group and control group ( t =17.75,8.71, P <0.05). The SRS scale score of the experimental group Social perception (17.67±4.12) , social cognition (30.33±4.99) , social communication (50.33±9.39) , social motivation (24.25±6.78) scores and total scores ( 152.67± 25.82) were lower than those of the control group(22.17±5.34，36.00±4.13，62.58±11.07，34.42±7.13，186.33±29.03)( t = -4.88，-2.03，-2.13，-3.58，-3.01， P ＜0.05).After the intervention, the scores of social function (53.33±18.01) and total score (283.83±51.83) on PedsQL 4.0 scale in experimental group were higher than those in control group(23.33±15.13，218.00±39.01) ( t =4.42，3.52， P ＜0.05). After the intervention, Autism Treatment Evaluation Scale (ATEC) scores of experimental groups(44.33±14.72) was lower than that in control group ( 59.33±16.95)( t =-2.32, P ＜0.05). Conclusion The intervention of group sports game has a significant effect on improving social ability and life quality of children with ASD.

Objective:To explore the clinical phenotypic features and genetic variation characteristics of children with epilepsy-aphasia spectrum due to GRIN2A gene variants confirmed by second-generation sequencing. Methods:The clinical data of 5 children with epilepsy-aphasia spectrum with epileptic onset diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, from February 2019 to November 2022 were retrospectively analyzed. Whole-exome genome sequencing of the probands using a second-generation sequencing method confirmed that all 5 cases were children with the GRIN2A gene variant. The characteristics of the GRIN2A gene variants were analyzed. Results:Among the 5 children diagnosed with epileptic aphasia spectrum due to GRIN2A gene variants, the male-to-female ratio was 4∶1, and the age range of onset was 1.5-4.4 years. The clinical phenotype included seizures in all cases, language and intellectual developmental deficits in 4 cases, and attention deficit hyperactivity disorder in 3 cases. The seizures were manifested as focal seizures or secondary generalized seizures, and were effectively controlled with antiepileptic drugs. Among the 5 children, gene variant of case 1 was originated from a paternal heterozygous variant, and cases 2-5 had de novo variants, which were c.2107C>T (p.Gln703 *) nonsense variant, c.2284G>A (p.Gly762Arg) missense variant, c.2197del (p.Ala733Glnfs *3) shifted coding variant, c.2511G>A (p.Trp837 *) nonsense variant, and c.1651+1G>C shear site variant, respectively. None of the 5 loci were reported in the literature. Conclusions:Epilepsy-aphasia spectrum is an epilepsy syndrome with a complex onset, and may have different phenotypes at different genetic variant loci, with focal seizures or secondary generalized seizures, which can be effectively controlled with anti-seizure medication. The GRIN2A gene variant is the genetic etiology of the epileptic aphasia spectrum.

Glaucoma is a neurodegenerative disease characterized by progressive and irreversible necrosis and apopto-sis of retinal ganglion cells.The abnormal activation of microglia,astrocytes and Müller cells in the central nervous system of the retina and macrophages,T/B lymphocytes and regulatory T cells in the peripheral immune system is involved in the pathogenesis of glaucoma,and the secretion of inflammatory factors such as interleukin 6 and interleukin 8 is closely relat-ed to the development of glaucoma.In this paper,the role of immune cells of the central nervous system and peripheral im-mune system of the retina and the inflammatory factors they secreted in the development of glaucoma is reviewed,in order to understand the pathogenesis of glaucoma at the cellular and molecular levels and to provide ideas for exploring new treatment methods.

Objective:This paper explores the predictive value of indicators of cardiopulmonary exercise test in the degree of coronary artery disease in patients with coronary heart disease.It provides an objective basis for predicting the degree of coronary artery disease by non-invasive detection methods in patients with coronary heart disease,and provides objective guidance for formulating exercise prescriptions for patients with coronary heart disease. Method:Fifty-three patients with coronary heart disease who were treated in the Affiliated Cardiovascular Hospi-tal of Kunming Medical University from March 2020 to May 2022 were selected to complete coronary angiogra-phy and cardiopulmonary exercise test.According to the coronary angiography results and the SYNTAX score,the patients were divided into low group(SYNTAX≤22 points)with 30 cases and medium-high group(SYN-TAX＞22 points)with 23 cases.The general information of the patients such as gender,age,BMI and comor-bidities were collected,and the indicators of cardiopulmonary exercise test were collected. Result:Compared with the medium-high group,maximum oxygen uptake(VO2max),maximum oxygen uptake as a percentage of the predicted value(VO2max％P),maximum metabolic equivalent(METSmax),maximum heart rate(HRmax)and maximum heart rate as a percentage of predicted value(HR％P)of the low group were high-er,and the difference between the two groups was statistically significant with p-value less than 0.05.Com-pared with the medium-high group,the heart rate reserve(HRR)in the low group was lower,and the differ-ence between the two groups was statistically significant with p-value less than 0.05.The SYNTAX score was negatively correlated with VO2max,VO2max％P,maximum oxygen uptake in kilograms(VO2max/kg),METSmax,HRmax and HR％P,and positively correlated with HRR with P-value less than 0.05.HRR has the highest sensitivity in predicting coronary heart disease. Conclusion:The low group with low SYNTAX scores and mild coronary lesions has higher VO2max,VO2max％P,VO2max/kg,METSmax,HRmax and HR％P values,suggesting that the patients in this group have better cardiopulmo-nary reserve function and better exercise capacity.The high group with severe coronary artery disease has high-er HRR,and the gap between the maximum heart rate and the target heart rate during exercise is larger,which means it is more difficult for patients in the high group to reach the target heart rate.

Objective:To summary the clinical phenotype and genotype characteristics of 2 cases of autosomal dominant mental retardation (MRD) caused by TRIO gene variation. Methods:Retrospective study of the clinical data of 2 cases of autosomal dominant MRD caused by TRIO gene mutations diagnosed at the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in April 2019 and January 2023 was conducted. The clinical features were summarized and gene analysis and follow-up were carried out. Results:The 2 patients were 6 years and 5 months old and 5 months old males, respectively. Clinical manifestations included seizures, cognitive and motor disorders, low intelligent development; case 1 had microcephaly, attention deficit disorder, ataxia, and aggressive behavior, and case 2 had macrocephaly. Brain magnetic resonance imaging revealed cerebellar atrophy in case 1, and non-specific dilation of the subarachnoid space and hypoplasia of the corpus callosum in case 2. Analysis of chromosome karyotype and chromosome copy number variation in 2 children showed no abnormalities. Whole exome sequencing revealed novel missense mutations in the TRIO gene in both patients [NM_007118:c.4289C>A(p.Thr1430Lys), c.4111C>A(p.His1371Asn), respectively]. The application of rehabilitation function training and a variety of anti-seizure medications can not fully and effectively control the seizure. Conclusion:TRIO gene c.4289C>A(p.Thr1430Lys), c.4111C>A(p.His1371Asn) de novo missense variants were the genetic etiology of the 2 probands,causing rare autosomal dominant MRD type 44 and 63.

OBJECTIVE: To summarize the effectiveness of Kirschner wire buckling combined with bone fixation in the treatment of metacarpal avulsion fracture. METHODS: The clinical data of 35 patients of metacarpal avulsion fracture admitted between March 2017 and June 2022 were retrospectively analyzed. There were 22 males and 13 females; the age ranged from 20 to 55 years, with an average of 31.6 years. There were 17 cases of the second metacarpal avulsion fracture, 6 cases of the fourth metacarpal avulsion fracture, and 12 cases of the fifth metacarpal avulsion fracture. The causes of injury included 21 cases of strangulation, 8 cases of sprain, and 6 cases of sports injury. X-ray film examination showed that the size of the avulsion fracture of metacarpal bone ranged from 0.30 cm×0.20 cm to 0.55 cm×0.45 cm. The total active motion (TAM) of the injured finger before operation was (154.00±17.38)°. The time from injury to operation was 3-10 days, with an average of 5.8 days. Follow-up regularly after operation, X-ray film and CT examination were performed to evaluate fracture healing and TAM of injured finger was measured. The finger function was evaluated by the trial standard of upper limb function evaluation of Hand Surgery Society of Chinese Medical Association. RESULTS: All the incisions healed by first intention. All 35 patients were followed up 9-36 months, with an average of 28 months. All metacarpal avulsion fractures achieved bony healing, and the healing time was 4-6 weeks, with an average of 4.8 weeks. The metacarpophalangeal joint of the patient was stable, without stiffness, and the flexion and extension activities were good. At last follow-up, the TAM of the injured finger reached (261.88±6.23)°, which was significantly different from that before operation ( t=-35.351, P<0.001). The finger function was evaluated according to the trial standard of upper limb function evaluation of the Society of Hand Surgery of Chinese Medical Association, and 33 cases were excellent and 2 cases were good, with an excellent and good rate of 100%. CONCLUSION The treatment of metacarpal avulsion fracture with Kirschner wire buckling combined with bone fixation has the advantages of less trauma, firm fixation, and less interference to the soft tissue around metacarpophalangeal joints, which is a good alternative method for the metacarpal avulsion fracture.
Male ; Female ; Humans ; Young Adult ; Adult ; Middle Aged ; Fractures, Avulsion/surgery* ; Fracture Fixation, Internal/methods* ; Metacarpal Bones/injuries* ; Bone Wires ; Retrospective Studies ; Treatment Outcome ; Fractures, Bone/surgery* ; Hand Injuries

Objective:To improve the prognosis stratification, especially early mortality(EM), of elderly patients with newly diagnosed multiple myeloma(NDMM).Methods:In this retrospective study, univariate and multivariate Cox regression analysis were conducted to identify the independent prognostic factors associated with overall survival(OS)and the chi-square test and multivariate Logistic analysis were used to identify the prognostic factors associated with EM in 223 elderly patients(age≥65 years)with NDMM from three centers in the country.Results:Increased NT-pro-BNP(≥300 pg/ml), ECOG-PS≥2 and stage Ⅲ R-ISS were identified as three independent adverse prognostic factors of OS.The rates of EM3, EM6, EM12 and EM24 were 12.1%, 20.1%, 32.2% and 60%, respectively.The most common cause for EM6(particularly EM3)was disease-related complications resulting from ineligibility for treatment due to poor physical performance, severe organ dysfunction or treatment discontinuation due to treatment intolerance, while the most common cause for EM12(particularly EM24)was disease progression or relapse mainly as a result of inadequate treatment.R-ISS staging failed to predict EM, while decreased eGFR, ECOG-PS≥2, and increased NT-pro-BNP were able to estimate the risk of EM, with increased NT-pro-BNP as a common independent factor for EM12( P=0.03)and EM24( P=0.015). Conclusions:R-ISS staging, which primarily reflects MM biology, cannot predict EM.However, factors such as NT-pro-BNP, eGFR and ECOG-PS associated with frailty and impairment of organ functions can be used to estimate the risk of EM, among which NT-pro-BNP may be the most important independent factor for EM.Therefore, incorporation of these frailty-related biomarkers into R-ISS staging may be able to more precisely estimate the prognosis and particularly early death of elderly patients with NDMM.

Objective:To investigate the therapeutic efficacy and prognosis of multiple myeloma (MM) patients with early relapse and the influencing factors of early relapse.Methods:The clinical data of 164 patients with newly diagnosed MM admitted to Affiliated Hospital of Hebei University from January 2018 to January 2021 were retrospectively analyzed, and 53 cases (32.3%) relapsed at the end of the follow-up. According to the recurrence within 12 months or not, the patients were divided into early relapse group and advanced relapse group; the clinical characteristics, overall response rate (ORR) and overall survival (OS) of both groups were compared. Logistic regression was used to analyze if the following indexes including age, gender, albumin, lactate dehydrogenase (LDH), β 2-microglobulin (β 2-MG), hemoglobin, creatinine, serum calcium, bone marrow plasma cell ratio, extramedullary disease, high-risk fluorescent in situ hybridization (FISH) were the influencing factors of the early relapse. Based on 7 published clinical trials, simplified early relapse MM (S-ERMM) scoring system was constructed to subgroup all relapsed patients. The difference in risk stratification between early relapsed patients and advanced relapsed patients was compared. Results:The median follow-up time of 164 newly diagnosed MM patients was 26 months (12-48 months). Among 53 relapsed MM patients, 24 cases had early relapse and 29 cases had advanced relapse. The ORR of patients with early relapse was decreased compared with that of those with advanced relapse [70.8% (17/24) vs. 89.7% (26/29), χ2 = 3.04, P = 0.001]. The median OS of the early relapse group was shorter than that of the advanced relapse group (24 months vs. not reached, P < 0.001). The OS of patient in the early relapse group with the best response ≥ complete remission (CR), ≥ very good partial remission (VGPR) and ≥ partial remission (PR) during initial induction therapy was worse than that of those in the advanced relapse group, and the differences were statistically significant ( P values were 0.008, 0.011, 0.012, respectively). Multivariate Logistic regression analysis showed low albumin (<35 g/L vs. ≥35 g/L: OR = 1.644, 95% CI 1.076-2.511, P = 0.022) and high LDH (< the upper limit of normal value vs. ≥ the upper limit of normal value: OR = 0.998, 95% CI 0.985-1.011, P = 0.030) were independent influencing factors of early relapse. Among 24 early relapse patients, there were 5 cases (20.8%), 13 cases (54.2%), 6 cases (25.0%), respectively in the S-ERMM scoring system low-risk, middle-risk, high-risk groups; among 29 advanced relapse patients, there were 18 cases (62.1%),9 cases (31.0%), 2 cases (6.9%), respectively in the S-ERMM scoring system low-risk, middle-risk, high-risk groups; the difference in risk stratification of the S-ERMM scoring system between the early relapse group and the advanced relapse group was statistically significant ( χ2 = 9.09, P = 0.003). Conclusions:MM patients with early relapse have poor therapeutic efficacy and prognosis. The prognosis is not affected by the depth of remission to first-line therapy. Low albumin and high LDH may be independent risk factors of MM patients with early relapse.

Objective:To explore the efficacy of venetoclax plus azacitidine (VA) in the treatment of patients with newly diagnosed chronic myelomonocytic leukemia (CMML).Methods:The clinical data of 4 newly diagnosed CMML-2 patients treated with VA regimen in the Affiliated Hospital of Hebei University from February 2022 to March 2023 were retrospectively analyzed, and the related literature was reviewed.Results:All 4 CMML-2 patients achieved the effect of ≥ partial bone marrow remission (PMR) after 1 course of treatment, and with the deepened extension of treatment course, the overall response rate and complete remission (CR) rate was 100% and 50%, respectively. In terms of dose adjustment, the dose and usage day of venetoclax were determined by using dynamic frailty assessment and adverse events. Among the 2 patients who achieved CR, 1 patient initially received venetoclax 200 mg for 14 days, and 1 patient received venetoclax 400 mg for 28 days and then the usage reduced to venetoclax 200 mg for 14 days due to hematological adverse events. All 4 patients maintained CR status. The most common grade 3 and 4 adverse events were neutropenia and thrombocytopenia.Conclusions:The first-line application of VA regimen in the treatment of newly diagnosed CMML-2 patients may achieve faster remission and better safety compared with traditional HMA monotherapy.

Objective: To compare the effect of scalp acupuncture and scalp acupuncture plus acupuncture exercise therapy (AET) on walking ability in children with spastic cerebral palsy (CP). Methods: A total of 60 spastic CP children with gross motor function classification system (GMFCS) grades Ⅰ-Ⅲ were divided into a control group and an observation group by the random number table method, with 30 cases in each group. Both groups were treated with the same conventional rehabilitation and scalp acupuncture therapy for CP. The control group received conventional rehabilitation first and then scalp acupuncture. The observation group received AET, which was to receive the conventional rehabilitation and scalp acupuncture simultaneously. Before and after treatment, the clinical efficacy was evaluated by the modified Ashworth scale (MAS) score, scores of dimensions D and E of the gross motor function measure (GMFM) scale, walking speed, and walking distance. Results: During treatment, there were 2 dropouts in the observation group. After 3 courses of treatment, the MAS scores in both the control group and observation group decreased compared with the same group before treatment (P<0.05), and the scores of dimensions D and E of the GMFM, walking speed, and walking distance were increased (P<0.05); the between-group comparison showed that the MAS score in the observation group was lower than that in the control group (P<0.05), and the scores of dimensions D and E of the GMFM, walking speed, and walking distance in the observation group were higher or longer than those in the control group (P<0.05). Conclusion: W ith the same treatments, scalp acupuncture combined with AET is superior to the conventional scalp acupuncture method in reducing lower-limb muscle tone, improving standing balance ability, and walking stability in children with spastic CP.