Objective:To observe any effect of supplementing treatment according to the Early Start Denver model (ESDM) with repeated transcranial magnetic stimulation (rTMS) in the treatment of children with autism spectrum disorder (ASD).Methods:Sixty-seven children on the autism spectrum aged 2 or 3 years were randomly divided into a control group of 33 and an observation group of 34. Both groups were treated as specified by the ESDM for 24 weeks, but the observation group additionally received rTMS. At 12 and 24 weeks, both groups were evaluated using the Autism Behavior Checklist, the Childhood Autism Rating Scale (CARS), the revised version of the Repetitive Behavior Scale (RBS-R), Gesell Development Schedules, and the Autism Treatment Evaluation Checklist (ATEC).Results:The CARS, Gesell, RBS-R and ATEC results of both groups had improved significantly after 12 weeks, with further improvements observed another 12 weeks later, when the average Autism Behavior Checklist scores had also improved significantly. At that point the results of the observation group were significantly better than those of the control group, on average.Conclusions:Combining ESDM and rTMS can significantly relieve the main symptoms of autism and improve the comprehensive development of children on the autism spectrum 2 or 3 years old. Therefore, such combination is worthy of application in clinical practice.

Objective:To observe any effect of supplementing treatment according to the Early Start Denver model (ESDM) with repeated transcranial magnetic stimulation (rTMS) in the treatment of children with autism spectrum disorder (ASD).Methods:Sixty-seven children on the autism spectrum aged 2 or 3 years were randomly divided into a control group of 33 and an observation group of 34. Both groups were treated as specified by the ESDM for 24 weeks, but the observation group additionally received rTMS. At 12 and 24 weeks, both groups were evaluated using the Autism Behavior Checklist, the Childhood Autism Rating Scale (CARS), the revised version of the Repetitive Behavior Scale (RBS-R), Gesell Development Schedules, and the Autism Treatment Evaluation Checklist (ATEC).Results:The CARS, Gesell, RBS-R and ATEC results of both groups had improved significantly after 12 weeks, with further improvements observed another 12 weeks later, when the average Autism Behavior Checklist scores had also improved significantly. At that point the results of the observation group were significantly better than those of the control group, on average.Conclusions:Combining ESDM and rTMS can significantly relieve the main symptoms of autism and improve the comprehensive development of children on the autism spectrum 2 or 3 years old. Therefore, such combination is worthy of application in clinical practice.

Objective:To analyze RELT gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta(AI)in China,and to study the relationship between its genotype and phenotype.Methods:Clinical and radiological features were recorded for the affected individuals.Peripheral venous blood samples of the patient and family members were collected for further study,and the genomic DNA was extracted to identify the pathogenic gene.Whole exome sequencing(WES)was performed to analyze the possible pathogenic genes,and Sanger sequencing was performed for validation.SIFT and PolyPhen-2 were used to predict and analyze the mutation effect.Comparison of RELT amino acids across different species were performed by using Uniprot website.In addition,the three-dimen-sional structures of the wild type and mutant proteins were predicted by Alphafold 2.Results:The proband exhibited typical hypocalcified AI,with heavy wear,soft enamel,rough and discolored surface,and partial enamel loss,while his parents didn't have similar manifesta-tions.WES and Sanger sequencing results indicated that the proband carries a homozygous frameshift mu-tation in RELT gene,NM_032871.3:c.1169_1170del,and both of his parents were carriers.This mu-tation was predicted to be pathogenic by SIFT and Poly Phen-2.Up to now,there were 11 mutation sites in RELT gene were reported to be associated with AI,and all of the patients exhibited with hypocalcified AI.Compared with the wild-type RE LT protein,the mutant protein p.Pro390fs35 conformation terminated prematurely,affecting the normal function of the protein.Conclusion:Through phenotype analysis,gene sequencing,and functional prediction of a Chinese family with typical amelogenesis imperfecta,this study found that RELT gene frameshift mutation can lead to protein dysfunction in AI patients.Further research will focus on the role and mechanism of RELT in enamel development at the molecular and animal levels,providing molecular biology evidence for the genetic counseling,prenatal diagnosis,and early prevention and treatment of AI.

Follicular lymphoma (FL) is highly heterogeneous with different histopathologic grades. Its biological characteristics and clinical management are different. This study retrospectively analyzed 18F-FDG PET-CT metabolic parameters, clinical features, and their relationship with prognosis in 161 FL patients with different histopathological grades (grade 1-2, grade 3A, grade 3B) at the Shanxi Cancer Hospital. There were 93 cases in the grade 1-2 group, 40 cases in the grade 3A group, and 28 cases in the grade 3B group. The expression of LDH, CD10, EZH2, c-Myc, and CD37 proteins was correlated with histological grade (grade 1-2, grade 3A, and grade 3B) (all P values<0.05) . The SUVmax, TLG, TBR, and TLR for the three groups were different (all P values<0.05) . The optimal thresholds of SUVmax, MTV, TLG, TBR, and TLR for predicting FL disease progression were 8.32, 201.31, 2 342.55, 6.56, and 3.52, respectively, and the rate of disease progression increased in patients with higher thresholds (all P value<0.05) . β 2-MG (>2.3 μg/L) , Follicular lymphoma international prognostic index-1 (FLIPI-1) score (3-5 points) , negative CD37 expression, positive c-Myc expression, and TLG (>2 342.55 g) were all independent risk factors for PFS in the FL patients ( HR=3.609, 2.509, 0.255, 3.506, 13.531, all P value<0.05) . 18F-FDG PET-CT is a powerful complement to FL histopathological grading and the combination of the two may better predict the prognosis of FL patients.

Objective To investigate the role of PSMA4 in the prognosis,diagnosis and immune infiltration of lung adenocarcinoma(LUAD),and explore its underlying mechanism.Methods The expression profiles and clinical data of LUAD patients were sourced from the Cancer Genome Atlas(TCGA)database.The expression level of PSMA4 in LUAD tissues(n=539)and normal tissues(n=59)were compared using the Wilcoxon rank-sum test.The expression levels of PSMA4 in LUAD tissues and normal tissues were validated by analyzing the GSE40791 and GSE10072 LUAD datasets obtained from the Gene Expression Omnibus(GEO)database.In addition,tumor and adjacent non-cancerous tissues were collected from 10 LU AD undergoing lung biopsy by fiberoptic bronchoscopy in Second Affiliated Hospital of Army Medical University from January to December 2023.The PSMA4 expression in above samples was further verified using RT-qPCR.RT-qPCR was performed to detect the expression of PSMA4 in lung cancer cells and normal lung epithelial cells.Functional enrichment analysis and immune cell infiltration analysis were conducted on the cells with high and low expression of PSMA4.Cox regression analysis and Kaplan-Meier(KM)survival analysis were used to determine the diagnostic and prognostic value of PSMA4 for LUAD,and a nomogram was constructed to predict the overall survival rate at different time points.Results The analysis of TCGA datasets,GSE40791,and GSE10072 LUAD data revealed that PSMA4 expression was significantly higher in LUAD tissues than in normal tissues(P＜0.01).RT-qPCR further confirmed that the expression of PSMA4 was obviously elevated in LUAD tissues and lung cancer cells than adjacent non-cancerous tissues and normal lung epithelial cells(P＜0.01).High PSMA4 expression could be regarded as a marker for LUAD diagnosis and poor prognosis,and was associated with reduced proportions of Tem cells,TFH cells,B cells,NK cells,Tcm cells,and mast cells in the tumor microenvironment.Conclusion PSMA4 presents significant diagnostic performance for LUAD,and is closely associated with the prognosis and immune infiltration of this malignancy.

Autoimmune glial fibrillary acidic protein astrocytopathy(GFAP-A) is a novel autoimmune disease of the central nervous system.The disease can affect any region of the cerebrum, cerebellum, optic nerve, and spinal cord, with encephalitis, meningoencephalitis and encephalomyelitis being the most common.Patients usually present with headache, fever, disturbance of consciousness, autonomic dysfunction, and visual impairment, and the diagnosis is mainly based on positive anti-glial fibrillary acidic protein antibodies in cerebrospinal fluid and serum.The disease is sensitive to glucocorticoids, with 70% of patients responding well to high-dose glucocorticoid pulse therapy and having a good prognosis.About one in five patients have residual nervous system sequelae, requiring long-term immunosuppressive therapy.This paper reviews the etiology, pathogenesis, clinical features, diagnosis and differential diagnosis, treatment and prognosis of GFAP-A by analyzing relevant studies at home and abroad, in order to deepen the understanding of this disease and provide references for its clinical diagnosis and treatment.

Attention deficit hyperactivity disorder is a common neurodevelopmental disorder characterized by persistent attention deficit, hyperactivity, and impulsive behaviors that are not consistent with developmental age.Academic and vocational difficulties, social exclusion, and delinquent behaviors are manifested in daily life.It is also commonly accompanied by psychiatric problems.At the same time, mental problems are common, and the overall quality of life is greatly affected, placing a heavy burden on society as well as the family.International attention deficit hyperactivity disorder experts have developed a common and comprehensive International Classification of Functioning, Disability and Health core set of classifications for assessing individual functioning in attention deficit hyperactivity disorder.

Objective:Induced pluripotent stem cells (iPSCs) cell lines were established using peripheral blood mononuclear cells (PBMCs) from a patient suffering from neonatal respiratory distress syndrome (NRDS) who carried Adenosine triphosphate-binding cassette transporter A3 ( ABCA3) compound heterozygous mutations. Methods:Cell experimental research.Peripheral venous blood was collected and PBMCs were isolated and cultured in vitro. PBMCs were transfected with non-integrated Sendai vector carrying reprogramming factors.The chromosome karyotypes of the established iPSCs were analyzed.Immunofluorescence and flow cytometry were used to detect pluripotency markers of stem cells and verify their differentiation potential.Sanger sequencing was performed to analyze gene mutations.In addition, short tandem repeat (STR) analysis was performed, polymerase chain reaction(PCR) and agarose gel electrophoresis were used to detect virus residual. Results:Karyotype analysis of established iPSCs cell lines showed normal diploid 46, XY karyotype.Immunofluorescence showed positive staining of stem cell pluripotency markers OCT4, SSEA4, Nanog and Sox2.Flow cytometry was used to detected stem cell pluripotency markers and showed expression of TRA-1-60, SSEA-4 and OCT4.After differentiation into all three germ layers, immunofluorescence was performed to detect ectoderm (Pax-6), mesoderm (Brachyury) and endoderm alpha-fetoprotein markers, and the results showed positive staining, which confirmed that the iPSCs had the potential to differentiate.Sanger sequencing showed c. 3997_3998del and c. 3137C>T compound heterozygous mutations.STR analysis showed they originate from PBMCs, and no Sendai virus residual was detected by PCR and agarose gel electrophoresis.Conclusions:In this study, PBMCs from patient carrying ABCA3 compound heterozygous mutations was used to establish iPSCs cell lines.The research lays a foundation for the study of pathogenesis, therapeutic drug screening and cell therapy of NRDS caused by ABCA3 gene mutations.

Objective To investigate the kinesiophobia level in patients after spinal fracture surgery and their correlations with rehabilitation self-efficacy and adherence. Methods A total of 150 patients who underwent spinal fracture surgery were enrolled in this study. General information was collected from all patients. The Tampa Scale for Kinesiophobia, Self-Efficacy for Rehabilitation Outcomes Scale, department-developed Rehabilitation Adherence Scale and postoperative activity pain [assessed using the Visual Analogue Scale (VAS)] were analyzed. Pearson correlation analysis was used to examine the relationships of kinesiophobia level with rehabilitation self-efficacy and adherence. Multiple linear regression analysis was conducted to identify factors influencing kinesiophobia level. Results The total score of postoperative kinesiophobia level in patients with spinal fracture was (57.14±3.12), which was at a high level. The total score of rehabilitation self-efficacy was (35.19±3.45), which was at a low level. The total score of rehabilitation compliance was (16.46±2.32), which was at a low level. Pearson correlation analysis showed that the total score of kinesiophobia level was negatively correlated with the total score of rehabilitation self-efficacy and rehabilitation compliance (P < 0.05). Univariate analysis revealed statistically significant differences in scores of kinesiophobia level among patients with different educational levels, postoperative activity pain and the presence or absence of postoperative complications (P < 0.05). Multiple linear regression analysis identified self-efficacy (B=-0.271, 95%CI, -0.439 to -0.103), adherence (B=-0.168, 95%CI, -0.331 to -0.004), educational level (B=0.190, 95%CI, 0.020 to 0.361), postoperative complications (B=0.403, 95%CI, 0.233 to 0.573) and postoperative activity pain (B=0.162, 95%CI, 0.003 to 0.320) were the influencing factors of postoperative kinesiophobia level in patients with spinal fracture. Conclusion The patients with spinal fracture have a higher level of kinesiophobia. The influencing factors of level of kinesiophobia are rehabilitation self-efficacy, rehabilitation compliance, education level, postoperative complications and postoperative activity pain.

To investigate the effect of long-term indwelling gastric tube on the prevention and treatment of esophageal stenosis after endoscopic submucosal dissection (ESD) for esophageal circumferential superficial cancer, data of patients with esophageal circumferential superficial cancer who underwent ESD in the First Affiliated Hospital of Nanjing Medical University from January 2018 to December 2021 were retrospectively analyzed. There were 15 patients with gastric tube placement (GTP) after ESD (the GTP group ), and 23 patients without GTP (the non-GTP group). The general information, lesion location, pathological stage, postoperative complications, degree of esophageal stenosis (water intake), pain conditions, number of hospitalizations and medical expenses were compared between the two groups. The results showed that there was no significant difference in age, gender, lesion location or postoperative pathological stage between the two groups ( P>0.05). Compared with the non-GTP group, the rate of water intake in the GTP group was significantly higher (11/15 VS 6/23, P<0.05), the frequency of pain was less in the GTP group (7.3±3.1 times VS 10.7±3.6 times, t=3.00, P<0.05), and the number of hospitalizations and the medical expenses after ESD to before and after stent placement were significantly lower in the GTP group than those in the non-GTP group ( P<0.05). There were no significant differences in the incidence of delayed bleeding and perforation, or time of the first stenosis after ESD between the two groups ( P>0.05). The results of the study initially showed that long-term indwelling gastric tube after ESD can reduce the degree of esophageal stenosis with good safety for esophageal circumferential superficial lesions.