1.Clinical characteristics and treatment analysis of patients with moderate hyponatremia
Qing CHEN ; Yu-Miao LI ; Yan JIANG ; Ai-Wen HUANG
The Chinese Journal of Clinical Pharmacology 2024;40(3):350-353
Objective To observe the clinical characteristics of patients with moderate hyponatremia in general surgery and analyze the efficacy.Methods Patients with moderate hyponatremia in general surgery were divided into control group(without supplemented concentrated sodium chloride injection)and treatment group(supplemented concentrated sodium chloride injection)according to the cohort method.The clinical characteristics of patients with moderate hyponatremia,such as gender distribution,age distribution,nutritional status,and primary disease were analyzed.Propensity score matching(PSM)was performed to balance confounding factors between the two groups,making their baseline conditions comparable and comparing the differences in clinical outcomes between the two groups.Results A total of 227 cases were included,including 82 in the control group and 145 in the treatment group.The predisposing factors of moderate hyponatremia in general surgery patients include male,elderly,malnutrition,parenteral nutrition,and malignant tumors.In addition,after PSM,there were 73 patients in each group of the control group and treatment group with moderate hyponatremia.The total effective rate of the control group was 80.82%,and correction of the hyponatremia takes time was(3.97±2.54)The total effective rate of the treatment group was 98.63%,and correction of the hyponatremia takes time was(3.54±1.90)d.The differences were statistically significant(all P<0.05).Conclusion We should pay more attention to patients with moderate hyponatremia in general surgery,and be alert to the risk of severe hyponatremia.For patients with moderate hyponatremia,concentrated sodium chloride injection should be given to improve efficacy and prognosis.
2.Advances in the study of drug resistance in targeted therapy and immunotherapy for hepatocellular carcinoma
Chinese Journal of Cancer Biotherapy 2024;32(2):189-195
[摘 要] 靶向治疗和免疫治疗常作为晚期肝细胞癌的系统性抗肿瘤方案。然而,受到多种因素的影响,如肿瘤微环境、细胞信号的转导通路、药物转运等因素的影响,晚期肝细胞癌的患者在治疗时往往出现不同程度的原发性和获得性耐药,患者长期获益有限。自IMbrave150试验发现靶向联合免疫治疗方案优于单药治疗后,有效改善了过去单药治疗耐药所产生的生存获益受限,而获得性耐药的解决方案仍受限于缺乏统一标准、病例难收集、差异基因较少等因素。本文综述目前众多正在进行的临床试验,希望为克服肝细胞癌耐药问题提供参考。
3.Efficacy of microscopic decompression in degenerative lumbar spinal stenosis under single percutaneous tubular retractor system
Liangfeng WEI ; Liang XUE ; Yehuang CHEN ; Jianwu WU ; Shousen WANG ; Zhaocong ZHENG
Chinese Journal of Neuromedicine 2024;23(1):55-61
Objective:To investigate the efficacy of microscopic decompression in degenerative lumbar spinal stenosis (DLSS) under single percutaneous tubular retractor system.Methods:A retrospective analysis was performed; 117 DLSS patients with imaging manifestations as non-segmental lumbar instability, admitted to Department of Neurosurgery, 900 th Hospital of PLA Joint Logistics Team from October 2018 to April 2023 were enrolled consecutively. These patients failed in strict conservative treatment and then changed to posterior lumbar spinal canal and nerve root decompression by microscopy and percutaneous tubular retractor system. These patients were followed up for 6-50 months. Pain visual analogue score (VAS) and lumbar Oswestry dysfunction index (ODI) were recorded and results of X-rays, CT and MRI of lumbar spines were analyzed 1 d before and 1 week after decompression and at the last follow-up. Modified MacNab criteria were used to evaluate the efficacy at the last follow-up. Results:Among the 117 patients, unilateral laminectomy for unilateral decompression was performed in 56 patients (47.9%) and unilateral laminotomy for bilateral decompression in 61 (52.1%). Single segment decompression was performed in 109 patients (93.2%) and double segment decompression in 8 (6.8%). Dural sac rupture occurred in 4 patients (3.5%), and immediate occlusion was given; no cerebrospinal fluid leakage was noted after decompression. All patients did not experience obvious nerve damage during decompression or intervertebral infection/lumbar instability after decompression. After 18 (13, 24) months of follow-up, VAS scores of the patients at the last follow-up decreased from (5.96±0.85) 1 d before decompression and (1.75±0.61) 1 week after decompression to (1.01±0.59), and lumbar ODI decreased from (63.22±8.33)% 1 d before decompression and (17.66±5.20)% 1 week after decompression to (10.64±3.44)%, with significant differences ( P<0.05). At the last follow-up, modified MacNab criteria indicated 46 patients (39.3%) as excellent, 66 (56.4%) as good, 3 (2.6%) as fair, and 2 (1.7%) as poor, with an excellent/good therapeutic rate of 95.7%. Conclusion:For surgical treatment of DLSS patients without evidenced preoperative spinal instability, personalized unilateral or bilateral spinal canal decompression under microscope by combiningsingle percutaneous tubular retractor system can effectively reduce surgical trauma and achieve satisfactory surgical results.
4.Comparison of psoas major muscle morphology in patients with lumbar disc herniation of lower limb pain and lumbocrural pain
Hui WANG ; Liangfeng WEI ; Yehuang CHEN ; Liang XUE ; Jianwu WU ; Shousen WANG
Chinese Journal of Neuromedicine 2024;23(1):62-65
Objective:To compare the morphological differences of psoas major muscles between patients with lumbar disc herniation (LDH) of lower limb pain and lumbocrural pain based on CT imaging data.Methods:Sixty patients with LDH admitted to Department of Neurosurgery, 900 th Hospital of PLA Joint Logistic Team from January 2012 to February 2023 were included. According to clinical symptoms, they were divided into lower limb pain group and lumbocrural pain group ( n=30). 3D CT images of the psoas major muscles in the 2 groups were reconstructed; the longest transverse axis perpendicular to the longitudinal axis of the psoas major muscle was chosen as the cross-sectional area, and the maximum psoas major muscle cross-sectional area was calculated; maximum psoas major muscle cross-sectional area index (PI max) was defined as ratio of maximum psoas major muscle cross-sectional area and L 5 vertebral cross-sectional area. PI max difference between lower limb pain group and lumbocrural pain group was compared; PI max difference among patients with different pain degrees (visual analog scale [VAS] scores) or pain courses was further compared in both lower limb pain group and lumbocrural pain group. Pearson correlation was used to analyze the correlations of PI max with pain degree and pain course in the 2 groups. Results:PI max in lower limb pain group was significantly larger than that in lumbocrural pain group (0.62±0.05 vs. 0.54±0.04, t=7.320, P<0.001). PI max in patients with severe pain from both lower limb pain group and lumbocrural pain group was significantly smaller than that in patients with moderate pain (0.61±0.05 vs. 0.65±0.04, t=2.422, P=0.022; 0.53±0.03 vs. 0.58±0.04, t=3.502, P=0.002). PI max in patients with short pain course from both lower limb pain group and lumbocrural pain group was significantly larger than that in patients with long pain course (0.64±0.05 vs. 0.59±0.04, t=2.570, P=0.016; 0.57±0.04 vs. 0.53±0.03, t=2.941, P=0.007). Pearson correlation showed that PI max was negatively correlated with pain degree and pain course in LDH patients from both groups ( P<0.05). Conclusion:Atrophy of psoas major muscles in LDH patients is aggravated with increased pain degree and pain course.
5.Correlation analysis of MRI characteristics with MGMT and Ki-67 in IDH wild-type glioblastoma located in the subventricular zone
Sifan QIU ; Zhihong KE ; Lidan LIN ; Yanuo HU ; You ZHANG ; Shangwen XU
Journal of Practical Radiology 2024;40(6):870-874
Objective To investigate the MRI characteristics of subventricular zone(SVZ)-associated isocitrate dehydrogenase(IDH)wild-type glioblastoma(GBM)and their correlations with Ki-67 expression and O6-methylguanine-DNA methyltransferase(MGMT)promoter methylation status.Methods A retrospective analysis was conducted on data of 78 patients with IDH wild-type GBM who underwent surgery and received pathological confirmation.Preoperative MRI contrast-enhanced T1 WI sequences were used to assess SVZ involvement,and postoperative molecular testing of tumor markers,including Ki-67 expression and MGMT methylation status,was utilized to categorize the patients accordingly.Results The SVZ involved(+)group(P<0.001)and the MGMT(+)group(P=0.036)exhibited significantly larger tumor volumes.There were no significant differences between the groups in terms of gender,age,left/right hemispheric lateralization,or specific brain lobe distribution.There was no significant association between Ki-67 expression levels,MGMT methylation status,and SVZ involvement,respectively.Conclusion The SVZ(+)group and the MGMT(+)group demonstrates a wider range of tumor invasion.
6.The construction of a peripheral blood qualitative transcriptional signature for the diagnosis of active tuberculosis
Saijun MA ; Kun CHEN ; Sheng LIU ; Tianyu LIN ; Shenghang ZHANG ; Huxing CHEN
Chinese Journal of Preventive Medicine 2024;58(11):1651-1658
Objective:To construct a signature for identifying active tuberculosis (TB) based on the relative expression orderings (REOs) of gene expression within a single sample.Methods:Using peripheral whole blood samples from 75 active TB and 69 latently infected individuals from four datasets as the training set, and highly stable REO patterns were extracted from the gene expression profile of the two groups of samples. Then, the gene pairs that reversed the REO pattern between the two groups were selected, and each gene pair was ranked in descending order based on their reversal degree. Finally, the top k gene pairs with the highest classification accuracy were selected as the signature for independent dataset validation. Results:A signature composed of seven gene pairs, denoted as 7-GPS, was constructed from the training set. The accuracy rate for 7-GPS to distinguish active TB from latently infected samples was 88.89%, and the accuracy rate for distinguishing active TB from normal samples was 90.09%. In the mixed validation data from different detection platforms, the AUC value for distinguishing active TB from latently infected samples was 0.914 (95% CI: 0.881-0.948), and the AUC value for distinguishing active TB from normal samples was 0.934 (95% CI: 0.904-0.964). In addition, the four genes ETV7, BATF2, ANKRD22 and CARD17P from this signature tended to be highly expressed in peripheral blood samples of active TB, and their expression values were significantly related to the duration of anti-tuberculosis treatment in clinical. Conclusion:The 7-GPS signature is robust and suitable for individualized analysis of a single peripheral blood sample. It has certain clinical application potential.
7.Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients
Ying TANG ; Yongbo ZHANG ; Danhong WU ; Yanhong LIN ; Fenghua LAN
Journal of Peking University(Health Sciences) 2024;56(5):763-774
Objective:To detect the cystic fibrosis transmembrane transduction regulator(CFTR)gene mutations and congenital bilateral absence of vas deferens(CBAVD)susceptibility gene mutations in pa-tients with CBAVD,and to explore their association with the risk of CBAVD.Methods:Whole-exome sequencing and Sanger sequencing validation were conducted on the pathogenic genes CFTR,adhesion G protein-coupled receptor G2(ADGRG2),sodium channel epithelial 1 subunit beta(SCNN1B),carbonic anhydrase 12(CA12),and solute carrier family 9 member A3(SLC9A3)in thirteen cases of isolated CBAVD patients.The polymorphic loci,intron and flanking sequences of CFTR gene were amplified by polymerase chain reaction(PCR)followed by Sanger sequencing.Bioinformatics methods were employed for conservative analysis and deleterious prediction of novel susceptibility gene mutations in CBAVD.Ge-netic analysis was performed on the pedigree of one out of thirteen patients with CBAVD to evaluate the risk of inheritance in offspring.Results:Exome sequencing revealed CFTR gene exon mutations in only six of the thirteen CBAVD patients,with six missense mutations c.2684G>A(p.Ser895Asn),c.4056G>C(p.Gln1352His),c.2812G>(p.Val938Leu),c.3068T>G(p.Ile1023Arg),c.374T>C(p.Ile125Thr),c.1666A>G(p.Ile556Val)),and one nonsense mutation(c.1657C>T(p.Arg553Ter).Among these six patients,two also had the CFTR homozygous p.V470 site,additional-ly,mutations in CFTR gene exon regions were not detected in the remaining seven patients.Within the thirteen CBAVD patients,three carried the homozygous p.V470 polymorphic site,four carried the 5T al-lele,two carried the TG13 allele,and ten carried the c.-966T>G site.Four CBAVD patients simulta-neously carried 2-3 of the aforementioned CFTR gene mutation sites.Susceptibility gene mutations in CBAVD among the thirteen patients included one ADGRG2 missense mutation c.2312A>G(p.Asn771Ser),two SLC9A3 missense mutations c.2395T>C(p.Cys799Arg),c.493G>A(p.Val165Ile),one SCNN1B missense mutation c.1514G>A(p.Arg505His),and one CA12 missense mutation c.1061C>T(p.Ala354Val).Notably,the SLC9A3 gene c.493 G>A(p.Val165Ile)mutation site was first identi-fied in CBAVD patients.The five mutations exhibited an extremely low population mutation frequency in the gnomAD database,classifying them as rare mutations.Predictions from Mutation Taster and Poly-phen-2 software indicated that the harmfulness level of the SLC9A3 gene c.493G>A(p.Val165Ile)site and the SCNN1B gene c.1514G>A(p.Arg505His)site were disease causing and probably damaging.The genetic analysis of one pedigree revealed that the c.1657C>T(p.Arg553Ter)mutation in the proband was a de novo mutation,as neither the proband's father nor mother carried this mutation.The proband and his spouse conceived a daughter through assisted reproductive technology,and the daughter inherited the proband's pathogenic mutation c.1657C>T(p.Arg553Ter).Conclusion:CFTR gene mutations remain the leading cause of CBAVD in Chinese patients;however,the distribution and fre-quency of mutations differ from data reported in other domestic and international studies,highlighting the need to expand the CFTR mutation spectrum in Chinese CBAVD patients.The susceptibility genes ADGRG2,SLC9A3,SCNN1B,and CA12 may explain some cases of CBAVD without CFTR mutations.Given the lack of specific clinical manifestations in CBAVD patients,it is recommended that clinicians conduct further physical examinations and consider scrotal or transrectal ultrasound before making a defi-nitive diagnosis.It is advisable to employ CFTR gene mutation testing in preconception genetic screening to reduce the risk of CBAVD and cystic fibrosis in offspring.
8.Research progress of liver transplantation in the treatment of hepatolenticular degeneration
Xinghua HUANG ; Jianyong LIU ; Huanzhang HU ; Lizhi LYU ; Yi JIANG ; Qiucheng CAI
International Journal of Surgery 2024;51(8):566-570
Hepatolenticular degeneration is kind of an autosomal recessive genetic disease with diverse, complex and non-specific clinical manifestations, high misdiagnosis rate, rapid disease progression, poor drug treatment effect, and high mortality. It is one of the rare several genetic metabolic diseases in clinic that could be cured by liver transplantation method. Liver transplantation provides healthy P-type ATP enzyme through the donor liver, which can correct its genetic defects, improve copper metabolism disorders, relieve clinical symptoms, improve the quality of life, and improve the survival rate of patients. Liver transplantation is playing an increasingly important role as an important means to treat hepatolenticular degeneration. With the rapid development of partial living donor liver transplantation, auxiliary liver transplantation, domino-assisted liver transplantation and cross-assisted domino liver transplantation, a new way has been provided for patients with hepatolenticular degeneration, alleviating the problem of donor liver shortage and shortening the waiting time of recipients, which has certain clinical value and development prospects. In this paper, a review of the research progress in the treatment of hepatolenticular degeneration with liver transplantation was made with reference to the relevant literature at home and abroad.
9.A colorimetric biosensor based on aptamer-gold nanoparticles for rapid detection of Lp-PLA2
Huimin NIU ; Yijun SHE ; Gongxu LIU ; Shuqian QIU ; Juan CHEN ; Shenghang ZHANG
Chinese Journal of Laboratory Medicine 2024;47(8):936-944
Objective:The DNA aptamers of lipoprotein-associated phospholipase A2 (Lp-PLA2), a marker of vasculitis, were screened and a visual detection method using unlabeled nucleic acid aptamer-gold nanoparticle (AuNP) probe was established.Method:Lp-PLA2 aptamers were screened through 8 cycles of incubation binding, ssDNA isolation, PCR amplification and single strand recovery by the magnetic bead fixation SELEX technique. The affinity and specificity of the aptamers were validated using surface plasmon resonance technology and flow cytometry, and the secondary structure of the aptamer and its three-dimensional molecular docking with the target protein were simulated by computer software. Subsequently, aptamer-AuNP complex was prepared, and the color change was caused by salt-induced condensation of the AuNP solution by target competitive binding. Then, the target concentration was detected by measuring the absorbance of the solution with a spectrophotometer. The linear relationship between the sample absorbance and concentration of Lp-PLA2 were established under the optimal determine conditions.Results:Three Lp-PLA2 aptamers B76-2, B76-4 and B76-5 with high affinity and strong specificity were obtained, and the dissociation constants were 1.07, 1.26 and 1.75 nmol/L, respectively. Then AuNP colorimetric sensing method based on B76-2 aptamer was successfully constructed. The linear range and detection limit of Lp-PLA2 were 20-500 ng/ml and 78 ng/ml, respectively, and the reaction time was 30 min, which could specifically distinguish the target from other thrombotic markers such as thrombin and myeloperoxidase.Conclusion:A simple, rapid and specific visual detection method for visually detecting Lp-PLA2 was established by using aptamer-AuNP colorimetric assay.
10.The construction of a peripheral blood qualitative transcriptional signature for the diagnosis of active tuberculosis
Saijun MA ; Kun CHEN ; Sheng LIU ; Tianyu LIN ; Shenghang ZHANG ; Huxing CHEN
Chinese Journal of Preventive Medicine 2024;58(11):1651-1658
Objective:To construct a signature for identifying active tuberculosis (TB) based on the relative expression orderings (REOs) of gene expression within a single sample.Methods:Using peripheral whole blood samples from 75 active TB and 69 latently infected individuals from four datasets as the training set, and highly stable REO patterns were extracted from the gene expression profile of the two groups of samples. Then, the gene pairs that reversed the REO pattern between the two groups were selected, and each gene pair was ranked in descending order based on their reversal degree. Finally, the top k gene pairs with the highest classification accuracy were selected as the signature for independent dataset validation. Results:A signature composed of seven gene pairs, denoted as 7-GPS, was constructed from the training set. The accuracy rate for 7-GPS to distinguish active TB from latently infected samples was 88.89%, and the accuracy rate for distinguishing active TB from normal samples was 90.09%. In the mixed validation data from different detection platforms, the AUC value for distinguishing active TB from latently infected samples was 0.914 (95% CI: 0.881-0.948), and the AUC value for distinguishing active TB from normal samples was 0.934 (95% CI: 0.904-0.964). In addition, the four genes ETV7, BATF2, ANKRD22 and CARD17P from this signature tended to be highly expressed in peripheral blood samples of active TB, and their expression values were significantly related to the duration of anti-tuberculosis treatment in clinical. Conclusion:The 7-GPS signature is robust and suitable for individualized analysis of a single peripheral blood sample. It has certain clinical application potential.

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