Objective:To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2).Methods:Three children who were diagnosed with ILFS2 at the Children′s Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). Results:The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c. 3596G>A and c.1181A>T in child 1, c.2617C>T and c. 2T>C in child 2, and c. 3596G>A and c. 2817_2818insT in child 3. Among these, the c. 1181A>T and c. 2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+ PM3+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:Combined with the patient′s clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c. 1181A>T and c. 2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.

[Objective]To study etiology and pathogenesis,treatment and prescription of"head sweating",based on the theory of"opening,closing and pivoting six meridians"from Huangdi Neijing.[Methods]Based on the provisions of"head sweating"in the classic works,the dynamic correlation between the imbalance of"opening,closing and pivoting six meridians"and"head sweating"was explored,and the pathogenesis classification and corresponding treatment were summarized.[Results]The pathogenesis of"head sweating"primarily involves Yangming heat obstruction and Shaoyang pivot stagnation.The treatment principle focuses on purging heat and promoting descent,and unblocking the pivot mechanism.If coexisting with Taiyin dampness retention,Taiyang exterior constraint or hyperactivity,the treatment is supplemented by transforming and transporting dampness,unblocking Yang and venting the exterior,or securing the exterior to arrest sweating.When the exterior constraint is pronounced,the primary focus should be on resolving the exterior constraint.When it is not pronounced,treatment should focus directly on the main channels.In severe cases,it may manifest as Jueyin Yin-Yang conflict or Shaoyin pivot mechanism disruption.The treatment principle focuses primarily on reconnecting Yin and Yang,or consolidating Yang while preserving Yin.Additionally,when the pattern pertains to Jueyin but the symptoms are not severe,treatment can be approached from the Shaoyang perspective.For refractory cases of"head sweating"with prolonged duration,adjunct therapy employing resolve phlegm and dissipate stasis methods can significantly enhance therapeutic efficacy.[Conclusion]The treatment of"head sweating"takes"regulating the Qi dynamic and restoring the balance between opening and closing functions"as its guiding principle.The Taiyang and Taiyin systems emphasize the opening function.The Yangming and Jueyin systems value the closing function.The Shaoyang and Shaoyin systems excel in their subtle pivoting function.When the three Yin and three Yang meridians each fulfill their respective duties,the head sweating will be spontaneously resolved.The theory of"opening,closing and pivoting six meridians"provides a dynamic and holistic conceptual framework for the precise pattern differentiation and treatment of"head sweating",while offering novel diagnostic and therapeutic strategies for clinical management of this condition.

The efficient production of L-glutamate is dependent on the product's rapid efflux, hence researchers have recently concentrated on artificially modifying its transport system and cell membrane wall structure. Considering the unique composition and structure of the cell wall of Corynebacterium glutamicum, we investigated the effects of CmpLs on L-glutamate synthesis and transport in SCgGC7, a constitutive L-glutamate efflux strain. First, the knockout strains of CmpLs were constructed, and it was confirmed that the deletion of CmpL1 and CmpL4 significantly improved the performance of L-glutamate producers. Next, temperature-sensitive L-glutamate fermentation with the CmpL1 and CmpL4 knockout strains were carried out in 5 L bioreactors, where the knockout strains showcased temperature-sensitive characteristics and enhanced capacities for L-glutamate production under high temperatures. Notably, the CmpL1 knockout strain outperformed the control strain in terms of L-glutamate production, showing production and yield increases of 69.2% and 55.3%, respectively. Finally, the intracellular and extracellular metabolites collected at the end of the fermentation process were analyzed. The modification of CmpLs greatly improved the L-glutamate excretion and metabolic flux for both L-glutamate production and transport. Additionally, the CmpL1 knockout strain showed decreased accumulation of downstream metabolites of L-glutamate and intermediate metabolites of tricarboxylic acid (TCA) cycle, which were consistent with its high L-glutamate biosynthesis capacity. In addition to offering an ideal target for improving the stability and performance of the industrial strains for L-glutamate production, the functional complementarity and redundancy of CmpLs provide a novel target and method for improving the transport of other metabolites by modification of the cell membrane and cell wall structures in C. glutamicum.
Corynebacterium glutamicum/genetics* ; Glutamic Acid/biosynthesis* ; Fermentation ; Metabolic Engineering ; Bacterial Proteins/metabolism* ; Bioreactors/microbiology* ; Gene Knockout Techniques

Systemic lupus erythematosus（SLE）is an autoimmune disease affecting multiple organs and systems，and acute pancreatitis（AP）is a rare，life-threatening complication of SLE.Early manifestations of pediatric SLE-related acute pancreatitis（SLEAP）lack specificity，which is easy to be misdiagnosed and missed，difficult to treat and poor in prognosis.Understanding the pathogenesis，clinical characteristics，diagnosis and treatment of pediatric SLEAP is of great significance to control the disease and improve the prognosis.This article reviews the latest research progress of pediatric SLEAP，in order to help pediatricians in the diagnosis and treatment of pediatric SLEAP.

OBJECTIVE: To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2). METHODS: Three children who were diagnosed with ILFS2 at the Children's Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). RESULTS: The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c.3596G>A and c.1181A>T in child 1, c.2617C>T and c.2T>C in child 2, and c.3596G>A and c.2817_2818insT in child 3. Among these, the c.1181A>T and c.2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+PM3+PP3) and pathogenic (PVS1+PM2_Supporting+PM3). CONCLUSION Combined with the patient's clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c.1181A>T and c.2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.
Humans ; Exome Sequencing ; Genetic Testing/methods* ; Liver Failure, Acute/etiology* ; Mutation ; Child ; Adult ; Neoplasm Proteins

Objective To investigate the effect of differentdoses of oxycodone on postoperative recovery quality in elderly patients undergoing laparoscopic cholecystectomy.Methods Elderly patients scheduled for elective laparoscopic cholecystectomy at Mianyang Central Hospital from September 2023 to April 2024 were selected.Patients were randomly divided into group C,group O1 and group O2.Ten minutes before anesthesia induction,group O1 received intravenous oxycodone 0.05 mg·kg-1,group O2 received oxycodone 0.1 mg·kg-1,and group C received an equivalent volume of 0.9%sodium chloride.Observe and compare the scores of the Quality of Recovery-40(QoR-40)scale at 24 hours postoperatively,the Visual Analogue Scale(VAS)for pain at 10 minutes postoperatively and incidence of postoperative respiratory amnesia among the three groups.Multiple linear regression analysis was used to investigate the effect of hydrocodone on postoperative QoR-40 score.Results A total of 117 patients were included,39 in each group.According to the dropout criteria,a total of 34 cases were included in the group C,38 cases in group O1,and 38 cases in group O2.Compared to group C,group O1 and O2 showed significantly higher QoR-40 scores at 24 hours postoperatively(P<0.01),particularly in physical comfort,emotional state,independent functioning,and pain(P<0.05 or P<0.01).However,there was no significant difference between group O1 and O2(P>0.05).Both oxycodone groups had significantly lower 10-minute postoperative VAS scores than group C(P<0.05).Group O1 had a lower incidence of respiratory amnesia than group O2(P<0.05).Multivariate regression revealed that oxycodone use,age,postoperative nausea/vomiting,and 10-minute VAS scores collectively explained 69%of the variance in QoR-40 scores at postoperatively(adjusted R2=0.69),with oxycodone use significantly improving QoR-40 scores at postoperatively[β=9.336,95%CI(7.428,11.243),P<0.001].Conclusion Preoperative intravenous administration of oxycodone improves the quality of recovery in elderly patients after laparoscopic cholecystectomy.The incidence of postoperative respiratory amnesia was lower in 0.05 mg·kg-1 oxycodone dose group.

Objective To investigate the effect of intravenous flurbiprofen axetil on the incidence and severity of catheter-related bladder discomfort(CRBD)after transurethral resection of the prostate(TURP).Methods The elderly patients undergoing TURP under general anesthesia were enrolled,and randomly divided into two groups:flurbiprofen axetil group(group F)and control group(group C).Ten minutes before the end of surgery,group F was given 50 mg of flurbiprofen axetil intravenously,group C was given an equal amount of 0.9％sodium chloride injection.The primary outcome indicator was the incidence of moderate to severe CRBD immediately after entering the resuscitation room(T0).Secondary indicators included the incidence and severity of CRBD at 1 h(T1),2 h(T2),and 6 h(T3)after entering the resuscitation room,the amount of sufentanil used within 24 hours after surgery,postoperative NRS score,flurbiprofen axetil-related and analgesic adverse reactions 24 hours after surgery,and patient satisfaction.Results A total of 90 patients were included and each group was 45 patients.The incidence of moderate to severe CRBD at T0 was significantly lower in group F than that in group C(8.9％vs.33.3％,P=0.004).The incidence of CRBD in T1,T2,and T3 was lower in group F than in group C(P＜0.05).The incidence of mild CRBD at T3 in group F was lower than that in group C(P＜0.05).The incidence of moderate to severe CRBD at T1 and T2 in groups F was lower than that in group C(P＜0.05).The amount of sufentanil used in group F at 24 hours after surgery was significantly lower than that in group C(P=0.001).The pain scores in group F at T0,T1,T2,and T3 were lower than those in group C(P＜0.05);The postoperative patient satisfaction score in group F was higher than that in group C(P=0.001).However,there were no significant differences between the two groups in postoperative anesthesia resuscitation time and 24-hour adverse reactions incidence(P＞0.05).Conclusion Intravenous flurbiprofen axetil can safely and effectively reduce the incidence and severity of CRBD after TURP.It can significantly relieve pain,reduce sufentanil use,and have high clinical application value.

Purpose This study aims to explore the effect of peroxisomal membrane protein 4(PXMP4)on the migration and invasion of cervical cancer(CC)cells,as well as the epithelial-mesenchymal transition(EMT)process.Methods Bioinformatics and immunohistochemical analysis were employed to examine the expression of PXMP4 in CC tissues and its correlation with clinical pathological characteristics.Western blot and RT-qPCR were used to detect the expression of PXMP4 in CC cells.CCK-8 assay,scratch healing assay,and Transwell invasion assay were utilized to assess the proliferation,migration,and invasion capabilities of CC cells.Western blot was conducted to measure the expression of N-cadherin,E-cadherin,vimentin,phosphorylated ERK(p-ERK),and total ERK proteins in cervical CC.Results The TCGA database showed that the mRNA expression level of PXMP4 was significantly elevated in non-paired CC tissues(P=0.000 29),while the GEO database showed that the mRNA expression level of PXMP4 was sig-nificantly elevated in paired CC tissues(P=0.02).Immunohistochemical analysis showed that PXMP4 was primarily localized in the cytoplasm and cell membrane,with a positive rate of 70.31％(45/64)in CC tissues,significantly higher than 29.69％(19/64)in adjacent tissues.Clinical pathological analysis found that PXMP4 expression was as-sociated with maximum tumor differentiation(P=0.000 328)and lymph node metastasis(P=0.000 226),but not with age(P=0.637)or tumor diameter(P=0.304).CCK-8 assay,wound healing assay,and Transwell invasion as-say demonstrated that interference with PXMP4 inhibited the proliferation,invasion,and migration of CC cells,while overexpression of PXMP4 promoted these processes.Western blot results indicated that interference with PXMP4 signif-icantly increased E-cadherin expression and decreased N-cadherin,vimentin,and p-ERK expression(P＜0.05).Conversely,overexpression of PXMP4 led to a significant decrease in E-cadherin and an increase in N-cadherin,vim-entin,and p-ERK expression(P＜0.05).Additionally,stimulation of CC cells with different concentrations of the U0126 inhibitor significantly increased E-cadherin expression and decreased N-cadherin,vimentin,and p-ERK expres-sion(P＜0.05).Conclusion PXMP4 is highly expressed in CC tissues and is closely related to tumor differentiation and lymph node metastasis.PXMP4 promotes the EMT process of CC cells through the phosphorylated ERK1/2 signa-ling pathway.

Objective:To evaluate the clinical effect of pelvic floor trigger point release combined with biostimu-lation feedback on dyspareunia in women after vaginal delivery.Methods:A total of 122 patients diagnosed with postpartum dyspareunia were selected from the postpartum rehabilitation department,gynecology department and rehabilitation department of Shanghai Baoshan Hospital of Integrated Traditional Chinese and Western Medicine from March 2022 to September 2023,and were randomly divided into the control group(61 cases)and the study group(61 cases)according to the lottery method.The control group received biostimulatory feedback treatment,and the study group received pelvic floor trigger point release combined with biostimulatory feedback treatment.The number of pain points and the total score of visual analog scale(VAS),female sexual function assessment scale(FSFI)and Glazer pelvic floor surface electromyography were compared between the two groups before and after treatment to evaluate the efficacy of pelvic floor trigger point release combined with biostimulatory feed-back.Results:After treatment,the study group showed significantly fewer pain points(3.36±2.01 points vs.8.79±3.12 points),lower VAS scores(4.31±2.93 points vs.10.07±4.24 points),and reduced Glazer electromyogra-phy values during both pre-resting(3.01±0.78 μV vs.6.16±1.09 μV,P<0.05)and post-resting stages(3.56±0.81 μV vs.6.53±1.13 μV,P<0.05)compared to the control group.Additionally,the study group demonstrated significantly higher FSFI scores and total scores(P<0.05).Conclusions:Pelvic floor trigger point release com-bined with biostimulation feedback therapy can relieve the pain of sexual intercourse and improve the sexual dys-function of women after vaginal delivery.

[Objective]To study etiology and pathogenesis,treatment and prescription of"head sweating",based on the theory of"opening,closing and pivoting six meridians"from Huangdi Neijing.[Methods]Based on the provisions of"head sweating"in the classic works,the dynamic correlation between the imbalance of"opening,closing and pivoting six meridians"and"head sweating"was explored,and the pathogenesis classification and corresponding treatment were summarized.[Results]The pathogenesis of"head sweating"primarily involves Yangming heat obstruction and Shaoyang pivot stagnation.The treatment principle focuses on purging heat and promoting descent,and unblocking the pivot mechanism.If coexisting with Taiyin dampness retention,Taiyang exterior constraint or hyperactivity,the treatment is supplemented by transforming and transporting dampness,unblocking Yang and venting the exterior,or securing the exterior to arrest sweating.When the exterior constraint is pronounced,the primary focus should be on resolving the exterior constraint.When it is not pronounced,treatment should focus directly on the main channels.In severe cases,it may manifest as Jueyin Yin-Yang conflict or Shaoyin pivot mechanism disruption.The treatment principle focuses primarily on reconnecting Yin and Yang,or consolidating Yang while preserving Yin.Additionally,when the pattern pertains to Jueyin but the symptoms are not severe,treatment can be approached from the Shaoyang perspective.For refractory cases of"head sweating"with prolonged duration,adjunct therapy employing resolve phlegm and dissipate stasis methods can significantly enhance therapeutic efficacy.[Conclusion]The treatment of"head sweating"takes"regulating the Qi dynamic and restoring the balance between opening and closing functions"as its guiding principle.The Taiyang and Taiyin systems emphasize the opening function.The Yangming and Jueyin systems value the closing function.The Shaoyang and Shaoyin systems excel in their subtle pivoting function.When the three Yin and three Yang meridians each fulfill their respective duties,the head sweating will be spontaneously resolved.The theory of"opening,closing and pivoting six meridians"provides a dynamic and holistic conceptual framework for the precise pattern differentiation and treatment of"head sweating",while offering novel diagnostic and therapeutic strategies for clinical management of this condition.