BackgroundIn recent years， the incidence of non-suicidal self-injury （NSSI） behaviors among adolescents has been increasing annually. Self-esteem and alexithymia are strongly associated with NSSI behaviors， and alienation is closely linked to both self-esteem and alexithymia. However， there is limited research on the relationship between alienation and NSSI behaviors among adolescents in China. ObjectiveTo analyze the relationship between alienation and NSSI behaviors among adolescents， and to explore the factors influencing NSSI behaviors in this population， so as to provide insights for the prevention and treatment of NSSI behaviors in adolescents. MethodsAdolescents admitted to the Department of Psychiatry and Psychology at the 923^rd Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army from September 1， 2021 to March 1， 2023， who met the diagnostic criteria for NSSI in the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5）， were selected as the study group （n=60）. Concurrently， middle school students from Nanning were recruited as the control group （n=60）. Participants were assessed using Adolescent Self Harm Scale （ASHS）， Rosenberg Self-Esteem Scale （RSES）， Toronto Alexithymia Scale （TAS） and Adolescent Students′ Alienation Scale （ASAS）. Pearson correlation analysis was employed to examine the relationships between scale scores in the study group， and Logistic regression analysis was used to identify the influencing factors of NSSI behaviors among adolescents. ResultsThe RSES score of the study group was significantly lower than that of the control group （t=-7.033， P<0.01）. The TAS and ASAS scores of the study group were significantly higher than those of the control group （t=5.591， 8.124， P<0.01）. The ASHS score was negatively correlated with RSES score （r=-0.410， P<0.01） and positively correlated with ASAS score （r=0.555， P<0.01）. The RSES scores of the study group were negatively correlated with TAS and ASAS scores （r=-0.317， -0.590， P<0.05 or 0.01）. Logistic regression analysis showed that being female （OR=0.714， 95% CI： 0.042~0.709） was a protective factor for NSSI behaviors among adolescents， while high alienation （OR=1.028， 95% CI： 1.013~1.043） and residing in rural areas （OR=6.692， 95% CI： 2.038~21.967） were risk factors for NSSI behaviors among adolescents. ConclusionAlienation was positively correlated with NSSI behaviors in adolescents. Female adolescents had a lower risk of NSSI behaviors， while those with higher levels of alienation or residing in rural areas were more prone to NSSI behaviors. ［Funded by Self-financed Scientific Research Project of the Health Commission of Guangxi Zhuang Autonomous Region （number， Z20210656）； Self-financed Scientific Research Project of the Health Commission of Guangxi Zhuang Autonomous Region （number， Z-A20231057）］

Objective To investigate the gene expression and regulatory mechanisms of mouse embryonic fibroblasts (MEFs) under inflammatory conditions, aiming to elucidate the role of MEFs in inflammatory responses and provide a foundation for discovering anti-inflammatory drugs that act by modulating MEF function. Methods MEFs cultured in vitro were divided into the following groups: lipopolysaccharides (LPS)-treated group, inflammatory conditioned medium (CM)-treated group, and control group, which were treated with LPS, CM, and equal volume solvent, respectively. Transcriptome sequencing was used to analyze the effects of two stimuli on gene expression profile of MEFs. Real time fluorescence quantitative PCR (RT-qPCR) was employed to verify the transcription levels of highly expressed genes of MEFs induced by CM. ELISA was performed to determine the concentrations of cytokines in cell supernatants. Finally, the regulatory effects of CM on the activation of signaling pathways in MEFs were analyzed by immunoblotting. Results Transcriptome analysis showed that both LPS and CM induced the transcription of a large number of genes in MEFs. Compared with LPS, CM potentiated the mRNA transcription of some acute phase proteins, inflammatory cytokines, chemokines, matrix metalloproteinases (MMP), prostaglandin synthetases, and colony-stimulating factors. The transcriptome analysis was verified by RT-qPCR. The results of ELISA showed that CM treatment significantly increased the secretion of interleukin 6 (IL-6), C-C motif chemokine ligand (CCL2), and C-X-C motif chemokine ligand (CXCL1) by MEFs compared with LPS. Mechanism study showed that both LPS and CM induced the phosphorylation of nuclear factor-κB p65 (NF-κB p65), p38 mitogen-activated protein kinase (p38 MAPK), extracellular regulated protein kinases 1/2 (ERK1/2), and TANK-binding kinase (TBK) in MEFs, and CM strongly stimulated the phosphorylation of signal transducer and activator of transcription 3 (STAT3) in MEFs. Conclusion Both LPS and CM can induce transcription and protein secretion of various inflammation-related genes in MEFs. CM can partly enhance LPS-induced activation of MEFs, and the mechanism may be related to the enhancement effect of CM on the activation STAT3 signaling pathway.
Animals ; Fibroblasts/immunology* ; Mice ; Lipopolysaccharides/pharmacology* ; Inflammation/metabolism* ; Signal Transduction/drug effects* ; Gene Expression Regulation/drug effects* ; Cytokines/genetics* ; Culture Media, Conditioned/pharmacology* ; Cells, Cultured

Objective To investigate the role of mitochondrial antiviral signaling protein(MAVS)in viral infection-triggered generalized pustular psoriasis(GPP)in children.Methods This retrospective case-control study enrolled 80 GPP patients aged 0～18 years from Children's Hospital of Chongqing Medical University(from October 2013 to April 2019).Whole-exome sequencing identified rare MAVS variants associated with GPP.Pathogenicity of variants was predicted using Mutation Taster,Disease Association,SIFT,and CADD bioinformatics tools.Sanger sequencing validated variants,followed by construction of wild-type(WT)and mutant MAVS expression plasmids transfected into HEK 293 cells.Protein expression was assessed by Western blot.Dual-luciferase reporter gene assays measured IFNB1 and NF-κB transcriptional activity.Genotype distribution of the MAVS c.171dupT/p.H57fs variant was analyzed using Fisher's exact test.Results This study enrolled 80 pediatric GPP patients(aged 0～18 years).Whole-exome sequencing identified five rare MAVS variants,with bioinformatics analyses predicting deleterious effects on protein stability and function.Western blot demonstrated that the c.171dupT mutation in GPP patients significantly reduced full-length MAVS expression(P<0.001);dual-luciferase assays further revealed this variant impaired MAVS-mediated IFNB1 transcriptional activation by 85%(P<0.001),abrogated NF-κB signaling pathway activation(P<0.001),but exhibited no dominant-negative effect on wild-type MAVS function(P>0.05).Conclusion The MAVS c.171dupT frameshift variant may contribute to infection-triggered GPP in children,suggesting its potential as a genetic biomarker for GPP susceptibility.

Objective To analyze and explore the analgesic effect of Angelica dahurica in neuropathic pain and its regulatory effect on the Mas-related G-protein coupled receptor member D(MrgprD)-transient receptor potential ankyrin 1(TRPA1)signaling pathway,using a mouse model of sciatic nerve chronic constriction injury(CCI).Methods A CCI mouse model was prepared by sterile surgical ligation and wrapping of the sciatic nerve in 30 mice.Pain-related behavioral changes induced by mechanical stimulation were detected by the VonFrey method,and the thermal hyperalgesic effects of Angelica dahurica were evaluated by thermal radiation experiments.The effects of Angelica dahurica on the protein expression levels MrgprD and TRPA1,the number of dorsal root ganglion(DRG)positive neurons,and mRNA levels of MrgprD and TRPA1 in mice were detected by Western Blot,immunofluorescence,and reverse transcription-polymerase chain reaction,respectively.Differences in fluorescence signal intensity in HEK293 cells after single transfection and co-transfection with MrgprD and TRPA1 plasmids,respectively,were analyzed by calcium imaging experiments.Results A total of 25 CCI mouse models were successfully prepared,with a modeling rate of 83.33％(25/30).The mechanical threshold and foot retraction latency were significantly higher in CCI mice treated with Angelica dahurica compared with the control group(P＜0.05).Expression levels of MrgprD and TRPA1 proteins were significantly lower in CCI mice treated with Angelica dahurica than in the control group(P＜0.05).The number of MrgprD-and TRPA1-positive neurons in the DRG was significantly lower group(P＜0.05)and the mRNA levels of MrgprD and TRPA1 were also significantly lower in CCI mice treated with Angelica dahurica than in the control group(P＜0.05).The fluorescence intensity was significantly higher in HEK293 cells co-transfected with MrgprD and TRPA1 plasmids than in single-transfected and blank control cells(P＜0.05).Conclusions This study demonstrated that the MrgprD-TRPA1 pathway is an important target for neuropathic pain,and indicated that Angelica dahurica can inhibit neuropathic pain by regulating this signal transduction pathway.These result provide a foundation for further research on the development of new clinical analgesic drugs and analgesic mechanisms.

OBJECTIVE: To assess the value of low-depth whole-genome copy number variation sequencing (CNV-seq) for the analysis of chromosomal copy number variations among fetuses with echogenic bowel (EB). METHODS: A total of 163 fetuses were included in this study. Amniotic fluid (162 cases) or chorionic villi (1 case) were collected and subjected to CNV-seq for the analysis of CNVs. RESULTS: Thirteen (8.0%) pathogenic CNVs were detected, including 9 (5.5%) aneuploidies and 4 (2.4%) CNVs. The detection rate of the isolated EB group and combined EB group were 1.7% (1/58) and 11.4% (12/105), respectively. There was a significant difference between the two groups (P < 0.05). A Xp22.1 duplication was detected in both groups, and the fetuses were predicted as female DMD carriers and born healthy. Nine cases of aneuploidies and 2 (likely) pathogenic CNVs were identified in the combined EB group, all of them have warranted induced labor. CONCLUSION The prevalence of chromosomal aneuploidies and pathogenic CNVs in fetuses with combined EB was much higher than isolated EB, and most of them may warrant termination of pregnancy. Compared with isolated EB, more attention should be paid to combined EB, for which prenatal diagnosis and genetic counseling should be carried out in time.
Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; DNA Copy Number Variations ; Echogenic Bowel ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Technology

OBJECTIVE: To explore the genetic basis for a child with multiple malformation and growth retardation. METHODS: The child was subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technique. RESULTS: G-banding karyotyping analysis has found no abnormality in the boy and his parents. CNV-seq analysis discovered that the child has carried a heterozygous 4.36 Mb deletion (24 020 000-28 380 000) at 7p15.3p15.1. The same deletion was not found in either parent. The deletion has encompassed 28 OMIM genes including HOXA13, CYCS, DFNA5, HOXA11 and HOXA2. Among these, HOXA13 has been associated with distal limb deformity, hypospadias and cryptorchidism. HOXA1, HOXA3 and HOXA4 are involved in the formation of cardiac primordia and primordial tube, and HOXA2 is involved in the development of auditory system. The clinical phenotype of the child was consistent with that of 7p15 deletion syndrome. CONCLUSION Haploinsufficiency of HOXA1, HOXA2, HOXA3, HOXA4 and HOXA13 genes may underlie the clinical phenotype of the child, which is comparable to 7p15 deletion syndrome.

Objective:To identify the clinical phenotypes, diagnosis, and treatment of five children with DiGeorge syndrome finally diagnosed by gene, with review of the literature.Methods:The clinical data of five children with DiGeorge syndrome admitted to our hospital were collected and sorted out. Copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technology was used to diagnose the genetic etiology of the children. The relationship between phenotypes and genotype among these five children were emphatically compared.Results:The five children collected in this study were all younger than 6 months. The course of the disease was more than 2 months to 1 year. Most of the first symptoms were convulsions and/or repeated infection. All of them had different degrees of growth retardation, with or without special facial features, epilepsy, congenital heart disease, etc. The similar blood ionized calcium levels revealed hypocalcemia, but the frequency and severity of convulsions were different. The copy number variation of chromosome 22q11.21 was detected in all these five children, and the deletion fragment was between 2.56-2.6 Mb, which was mostly coincident with the classical deletion region of DiGeorge syndrome (chr22: 19009792-21452445) recorded in Decipher database. One case was suggested to be a novel mutation, and the rest were of unknown origin.Conclusions:DiGeorge syndrome has great clinical heterogeneity. CNV-seq based on NGS technology is not only conducive to accurate genetic etiological diagnosis, but also helpful for understanding the corresponding relationship between clinical phenotype and genotype of hereditary syndrome, improving clinicians′ understanding and avoiding misdiagnosis.

Objective To analyze the therapeutic effects of chemotherapy after chidamide pretreatment in 16 cases of high-risk and refractory lymphoid malignancy. Methods The efficacy and adverse reactions of 16 patients with high-risk and refractory lymphoid malignancy who received chidamide combined with chemotherapy after 3 days pretreatment of chidamide were analyzed. Results Sixteen patients included 6 males and 10 females, and the median age was 49.5 years old (23-88 years old). The median course of previous systemic chemotherapy was 4 (range 0-22). Among 14 patients who received induction chemotherapy, 7 patients achieved complete remission (CR), 7 patients achieved partial remission (PR). Fourteen patients had achieved clinical efficacy, and the overall response rate (ORR) was 100 %. After 2 cases had remission , the patients who entered this regimen for consolidation chemotherapy also had durable CR. The median follow-up time was 13 months (range 2-24 months) until December 2017. Nine cases had overall survival (OS), 7 cases died and 9 cases had progression-free survival. Common adverse effects of the chemotherapy included mild and controllable gastrointestinal reactions after chidamide. Conclusion Chemotherapy after chidamide pretreatment may improve the effect and prognosis of high-risk or refractory lymphoid malignancy.

Objective To study the features of anatomical delamination of the posterior renal fascia in CT images.Methods Clinical datas and CT images of 85 patients with acute pancreatitis were collected,the anatomical delamination features of the adult posterior renal fascia were observed and recorded.Results (1) 23 cases showed anatomical delamination of the left posterior renal fascia, 9 cases showed anatomical delamination of the right posterior renal fascia, and 8 cases showed anatomical delamination of bilateral posterior renal fascia.(2) The features of anatomical delamination of the posterior renal fascia were detected in the whole posterior renal fascia or in the lateral part of the posterior renal fascia.Anatomical delamination was detected in the whole left posterior renal fascia in 6 cases, and was detected in the lateral part of the left posterior renal fascia in 17 cases.Anatomical delamination was detected in the whole right posterior renal fascia in 4 cases and in the lateral part of the right posterior renal fascia in 5 cases.Anatomical delamination of the whole part in the bilateral posterior renal fascia were detected in 4 cases and pure delamination of the lateral part in the both sides were 4 cases.Conclusion CT images can show the anatomical delamination of the posterior renal fascia which has two types.The anatomical delamination of bilateral posterior renal fascia is not always the same.

OBJECTIVETo compare the clinical efficacy difference in dysantonomia between transcutaneous electrical stimulation at Renying(ST 9) combined with stellate ganglion block(SGB) and simple SGB.

METHODSSixty patients in accord with the diagnostic criteria of dysantonomia were randomly divided into two groups,30 cases in each group. In the observation group,transcutaneous electrical stimulation at Renying(ST 9) combined with SGB were adopted; in the control group,simple SGB was applied. In the two groups, treatment was used three times a week,and nine treatments were considered as one course. There was an interval of one week between courses,and two courses were treated. Total seven weeks were required. Scores were evaluated according to subjective symptoms before treatment,one month and three months after treatment in the two groups.

RESULTSThe scores of subjective symptoms were not statistically different before treatment in the two groups(P>0. 05). The scores of subjective symptoms one month and three months after treatment were all lower than those before treatment(all P< 0. 01), and subjective symptoms scores in the observation group were lower than those in the control group(both P<0. 01).

CONCLUSIONTranscutaneous electrical stimulation at Renying(ST 9) combined with SGB could obviously enhance the clinical effects for dysantonomia, and the control and improvement for clinical symptoms are apparently superior to simple SGB.

Acupuncture Points ; Adult ; Anesthetics ; administration & dosage ; Autonomic Nerve Block ; Autonomic Nervous System Diseases ; drug therapy ; therapy ; Combined Modality Therapy ; Female ; Humans ; Male ; Middle Aged ; Stellate Ganglion ; drug effects ; physiopathology ; Transcutaneous Electric Nerve Stimulation ; Young Adult