1.Current quality status and management countermeasures of occupational health technical services in Zhejiang Province
Qiuliang XU ; Feng HAN ; Peng WANG ; Zhen ZHOU ; Fei LI ; Hongwei XIE ; Yong HU ; Weiming YUAN ; Lifang ZHOU ; Hua ZOU
Journal of Environmental and Occupational Medicine 2026;43(3):341-346
Background The quality of occupational health technical services is directly linked to the protection of workers' health rights and the efficacy of occupational disease prevention and control. However, the industry still faces critical challenges: sporadic instances of institutional non-compliance and persistent irregularities in professional practice continue to undermine overall service performance. Objective To assess the current quality status of occupational health technical services in Zhejiang Province and propose countermeasures for quality improvement, providing a scientific basis for policy optimization and service delivery quality enhancement. Methods A total of 69 occupational health technical service institutions in Zhejiang Province that obtained formal accreditation as of April 30, 2024, were sampled, including 3 public institutions and 66 private institutions (comprising 3 formerly Class-A, 28 formerly Class-B, 11 formerly Class-C, and 24 newly certified institutions). Following the Technical Protocol for Quality Monitoring of Occupational Health Technical Service in Zhejiang Province and the Technical Protocol for Proficiency Testing of Occupational Health Detection in Zhejiang Province, a quality assessment task force comprising national and provincial experts was established. Evaluation was conducted across four dimensions: qualification maintenance and compliance, standardization of technical services, authenticity of technical services, and proficiency testing, utilizing a combination of document review, on-site inspections, and technical skill assessments. Results The occupational health technical service institutions in Zhejiang Province were predominantly private entities (82.5%), with significant disparities in overall service quality. The pass rates for qualification maintenance and compliance, technical service standardization, technical service authenticity, and the excellence rate for laboratory proficiency testing were 81.5%, 80.7%, 97.3%, and 90.4%, respectively. Regarding qualification maintenance, the pass rates for "environmental conditions" (49.8%, 56.7%) and "instrumentation and equipment" (58.2%、65.6%) were significantly lower for formerly Class-C and newly certified institutions compared to other categories. In terms of technical standardization, "standardized on-site inspections" recorded the lowest pass rate (67.4%), with newly certified institutions at only 48.0%. Regarding technical service authenticity, formerly Class-C institutions exhibited issues such as missing raw chromatograms for blank samples (85.7% pass rate). In laboratory proficiency testing, public and formerly Class-A institutions achieved 100% excellence rates, but the performance of formerly Class-C and newly certified institutions was comparatively weak; specifically, the failure rate for organic analysis in formerly Class-C institutions reached 20%; the failure rate for dust testing items in newly certified institutions was 10.3%. Conclusion The overall quality of occupational health technical services in Zhejiang Province still requires significant improvement, particularly in basic institutional conditions, the standardization of on-site inspections, and laboratory proficiency in organic and dust analysis. Formerly Class-C and newly certified institutions should be the primary focus of quality management efforts. Differentiated regulatory strategies are recommended, alongside strengthening interim and ex-post supervision to gradually enhance the quality of occupational health technical services across all institutions.
2.Compact Fundus Imaging System Using Shack-Hartmann Wavefront Sensing for High-speed Auto-focus
Zhe-Kai LIN ; Long CHEN ; Geng-Yong ZHENG ; Jin-Tian HUANG ; Jia-Xin DONG ; Shang-Pan YANG ; Wen-Zheng DING ; Ding-An HAN ; Xue-Hua WANG ; Ya-Guang ZENG
Progress in Biochemistry and Biophysics 2026;53(4):1076-1086
ObjectiveThe widespread adoption of portable fundus cameras for primary care and community screening is hindered by limitations in current autofocus(AF) technologies. Image-based methods relying on sharpness evaluation require iterative searches, resulting in slow convergence, while projection-based techniques are susceptible to optical artifacts and calibration errors. To address these challenges, this study introduces a novel AF system based on direct wavefront sensing, designed to deliver simultaneous high speed, high precision, and operational robustness within the compact form factor essential for portable ophthalmic devices. MethodsOur approach fundamentally reimagines the AF process by directly measuring the ocular wavefront aberration. We developed a custom portable fundus camera integrating a miniaturized Shack-Hartmann wavefront sensor (SHWS) into the optical path. An 850 nm laser diode projects a point source onto the retina via oblique illumination to minimize corneal reflections. Light scattered from this spot carries the eye’s refractive error through the imaging optics and is directed to the SHWS, positioned at a plane optically conjugate to the primary color CMOS imaging sensor. A microlens array within the SHWS samples the incident wavefront, generating a pattern of focal spots on a CCD. Real-time centroid analysis of these spots provides a map of local wavefront slopes. These measurements are processed through a singular value decomposition (SVD) algorithm to fit a Zernike polynomial basis set, enabling real-time reconstruction of the wavefront phase. The defocus component (S) is extracted from the second-order Zernike coefficients, providing a direct, quantitative measure of the refractive error in diopters. This value serves as a precise error signal in a closed-loop control system, which commands a voice-coil actuated focusing lens to its null position in a single, deterministic step, eliminating the need for iterative search algorithms. ResultsComprehensive evaluation demonstrated the system’s high performance. Testing on a calibrated model eye (OEMI-7) established a highly linear relationship between the computed defocus S and the focusing lens position across a ±20 Diopter (D) compensation range, achievable within a 5 mm mechanical travel. The system achieved a focusing precision of 0.08 D, corresponding to an 18-fold improvement over a conventional projection spot-size method tested under identical conditions. The total focus acquisition time, encompassing wavefront measurement, computation, and lens actuation, averaged under 0.5 s. Clinical validation with 25 human volunteers (50 eyes, refractive range -15 D to +10 D) confirmed practical efficacy. The wavefront-sensing AF succeeded in 92% of attempts with a mean time of 0.5 s, substantially outperforming a projection-based benchmark which achieved only a 32% success rate with an average time of 4.25 s. The system provided instantaneous directional guidance and maintained stability during minor ocular movements. Objective assessment of image quality, via amplitude contrast of retinal vasculature, showed consistent and significant enhancement following AF correction across the entire tested diopter range. ConclusionThis work successfully implements and validates a direct wavefront-sensing autofocus paradigm for portable fundus cameras. By directly quantifying and compensating for the optical defocus aberration, this method bypasses the fundamental limitations of image-processing and projection-based techniques, enabling rapid, precise, and deterministic diopter compensation. The developed system delivers an exceptional combination of a wide operational range (±20 D), high accuracy (0.08 D), fast convergence (0.5 s), and a compact physical footprint. This technology provides a practical and high-performance focusing solution capable of enhancing the reliability, throughput, and diagnostic utility of portable retinal imaging in large-scale screening applications. Future efforts will be directed towards system cost optimization and performance adaptation for diverse ocular conditions.
3.Allogeneic lung transplantation in miniature pigs and postoperative monitoring
Yaobo ZHAO ; Ullah SALMAN ; Kaiyan BAO ; Hua KUI ; Taiyun WEI ; Hongfang ZHAO ; Xiaoting TAO ; Xinzhong NING ; Yong LIU ; Guimei ZHANG ; He XIAO ; Jiaoxiang WANG ; Chang YANG ; Feiyan ZHU ; Kaixiang XU ; Kun QIAO ; Hongjiang WEI
Organ Transplantation 2026;17(1):95-105
Objective To explore the feasibility and reference value of allogeneic lung transplantation and postoperative monitoring in miniature pigs for lung transplantation research. Methods Two miniature pigs (R1 and R2) underwent left lung allogeneic transplantation. Complement-dependent cytotoxicity tests and blood cross-matching were performed before surgery. The main operative times and partial pressure of arterial oxygen (PaO2) after opening the pulmonary artery were recorded during surgery. Postoperatively, routine blood tests, biochemical blood indicators and inflammatory factors were detected, and pathological examinations of multiple organs were conducted. Results The complement-dependent cytotoxicity test showed that the survival rate of lymphocytes between donors and recipients was 42.5%-47.3%, and no agglutination reaction occurred in the cross-matching. The first warm ischemia times of D1 and D2 were 17 min and 10 min, respectively, and the cold ischemia times were 246 min and 216 min, respectively. Ultimately, R1 and R2 survived for 1.5 h and 104 h, respectively. Postoperatively, in R1, albumin (ALB) and globulin (GLB) decreased, and alanine aminotransferase increased; in R2, ALB, GLB and aspartate aminotransferase all increased. Urea nitrogen and serum creatinine increased in both recipients. Pathological results showed that in R1, the transplanted lung had partial consolidation with inflammatory cell infiltration, and multiple organs were congested and damaged. In R2, the transplanted lung had severe necrosis with fibrosis, and multiple organs had mild to moderate damage. The expression levels of interleukin-1β and interleukin-6 increased in the transplanted lungs. Conclusions The allogeneic lung transplantation model in miniature pigs may systematically evaluate immunological compatibility, intraoperative function and postoperative organ damage. The data obtained may provide technical references for subsequent lung transplantation research.
4.Effect of Zhengan Xifengtang on Intestinal Mucosal Barrier in Spontaneously Hypertensive Rats via FXR-MLCK/p-MLC Pathway
Meilong SI ; Hua JIN ; Yu WANG ; Qiuju ZHANG ; Tao LIU ; Yun YONG ; Xuan BAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(21):1-10
ObjectiveTo investigate the repair effects of Zhengan Xifengtang on intestinal mucosal barrier in spontaneously hypertensive rats (SHRs) through the pathways of farnesoid X receptor (FXR)-myosin light chain kinase (MLCK)/phosphorylated myosin light chain (p-MLC) and its potential mechanism. MethodsForty 10-week-old male SHRs were randomly divided into model group, amlodipine besylate group (0.5 mg·kg-1·d-1), and high, middle and low dose groups of Zhengan Xifengtang (34.5, 17.25, 8.625 g·kg-1·d-1); eight age-matched male Wistar-Kyoto (WKY) rats of the same origin served as the normal control group. Drug intervention was carried out for 8 weeks, and the blood pressure of the rats was measured regularly. After the intervention, the rats were euthanized to collect tissue samples. Hematoxylin and eosin (HE) staining and Alcian blue-periodic acid-Schiff (AB-PAS) staining were used to evaluate the pathological morphology and the number of goblet cells in colonic mucosa. Enzyme-linked immunosorbent assay (ELISA) was employed to measure plasma lipopolysaccharide (LPS) and diamine oxidase (DAO) levels in each group of rats. Immunofluorescence (IF) assay was used to detect the relative fluorescence intensity of FXR and p-MLC in colonic tissue. Western blot was used to detect the zonula occludens-1 (ZO-1), Occludin, Claudin-1, junctional adhesion molecule-1 (JAM-1), mucin-2 (MUC2), FXR, MLCK, and p-MLC protein expression in colon tissue. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to detect mRNA expression levels of ZO-1, Occludin, Claudin-1, JAM-1, MUC2, FXR, MLCK, and MLC in colon tissue. ResultsCompared with the normal group, the blood pressure in the model group increased significantly (P<0.01), the colonic mucosal structure was seriously damaged, and the number of goblet cells decreased significantly. The contents of LPS and DAO increased significantly (P<0.01), the relative fluorescence intensity of FXR in colon decreased, while that of p-MLC increased (P<0.01). The protein and mRNA expressions of ZO-1, Claudin-1, JAM-1, Occludin, MUC2 and FXR decreased significantly (P<0.01), whereas the protein expression of MLCK and p-MLC increased significantly (P<0.01). Additionally, the mRNA expression of MLCK and MLC increased significantly (P<0.01). Compared with the model group, the Zhengan Xifengtang groups at various dosages and the amlodipine besylate group showed significantly reduced blood pressure (P<0.01). The damage of colonic mucosa structure was alleviated, the infiltration of inflammatory cells decreased, and the number of goblet cells increased. LPS and DAO levels were decreased (P<0.05, P<0.01). In the colon, the relative fluorescence intensity of FXR increased, while that of p-MLC decreased (P<0.05, P<0.01). The protein and mRNA expression levels of ZO-1, Claudin-1, JAM-1, Occludin, and FXR increased significantly (P<0.05, P<0.01), while the protein expression of MLCK and p-MLC decreased significantly (P<0.05, P<0.01). Furthermore, the mRNA expression of MLCK and MLC decreased significantly (P<0.05, P<0.01), and the protein expression of MUC2 increased significantly (P<0.05, P<0.01). The expression of MUC2 mRNA in each dose group of Zhengan Xifengtang increased significantly (P<0.05, P<0.01). ConclusionZhengan Xifengtang may regulate the FXR-MLCK/p-MLC signaling pathway and enhance the expression of tight junction protein, thereby reducing intestinal mucosal permeability, promoting mucosal barrier repair, decreasing LPS release into the blood, and ultimately lowering blood pressure.
5.Effect of Zhengan Xifengtang on Intestinal Mucosal Barrier in Spontaneously Hypertensive Rats via FXR-MLCK/p-MLC Pathway
Meilong SI ; Hua JIN ; Yu WANG ; Qiuju ZHANG ; Tao LIU ; Yun YONG ; Xuan BAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(21):1-10
ObjectiveTo investigate the repair effects of Zhengan Xifengtang on intestinal mucosal barrier in spontaneously hypertensive rats (SHRs) through the pathways of farnesoid X receptor (FXR)-myosin light chain kinase (MLCK)/phosphorylated myosin light chain (p-MLC) and its potential mechanism. MethodsForty 10-week-old male SHRs were randomly divided into model group, amlodipine besylate group (0.5 mg·kg-1·d-1), and high, middle and low dose groups of Zhengan Xifengtang (34.5, 17.25, 8.625 g·kg-1·d-1); eight age-matched male Wistar-Kyoto (WKY) rats of the same origin served as the normal control group. Drug intervention was carried out for 8 weeks, and the blood pressure of the rats was measured regularly. After the intervention, the rats were euthanized to collect tissue samples. Hematoxylin and eosin (HE) staining and Alcian blue-periodic acid-Schiff (AB-PAS) staining were used to evaluate the pathological morphology and the number of goblet cells in colonic mucosa. Enzyme-linked immunosorbent assay (ELISA) was employed to measure plasma lipopolysaccharide (LPS) and diamine oxidase (DAO) levels in each group of rats. Immunofluorescence (IF) assay was used to detect the relative fluorescence intensity of FXR and p-MLC in colonic tissue. Western blot was used to detect the zonula occludens-1 (ZO-1), Occludin, Claudin-1, junctional adhesion molecule-1 (JAM-1), mucin-2 (MUC2), FXR, MLCK, and p-MLC protein expression in colon tissue. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to detect mRNA expression levels of ZO-1, Occludin, Claudin-1, JAM-1, MUC2, FXR, MLCK, and MLC in colon tissue. ResultsCompared with the normal group, the blood pressure in the model group increased significantly (P<0.01), the colonic mucosal structure was seriously damaged, and the number of goblet cells decreased significantly. The contents of LPS and DAO increased significantly (P<0.01), the relative fluorescence intensity of FXR in colon decreased, while that of p-MLC increased (P<0.01). The protein and mRNA expressions of ZO-1, Claudin-1, JAM-1, Occludin, MUC2 and FXR decreased significantly (P<0.01), whereas the protein expression of MLCK and p-MLC increased significantly (P<0.01). Additionally, the mRNA expression of MLCK and MLC increased significantly (P<0.01). Compared with the model group, the Zhengan Xifengtang groups at various dosages and the amlodipine besylate group showed significantly reduced blood pressure (P<0.01). The damage of colonic mucosa structure was alleviated, the infiltration of inflammatory cells decreased, and the number of goblet cells increased. LPS and DAO levels were decreased (P<0.05, P<0.01). In the colon, the relative fluorescence intensity of FXR increased, while that of p-MLC decreased (P<0.05, P<0.01). The protein and mRNA expression levels of ZO-1, Claudin-1, JAM-1, Occludin, and FXR increased significantly (P<0.05, P<0.01), while the protein expression of MLCK and p-MLC decreased significantly (P<0.05, P<0.01). Furthermore, the mRNA expression of MLCK and MLC decreased significantly (P<0.05, P<0.01), and the protein expression of MUC2 increased significantly (P<0.05, P<0.01). The expression of MUC2 mRNA in each dose group of Zhengan Xifengtang increased significantly (P<0.05, P<0.01). ConclusionZhengan Xifengtang may regulate the FXR-MLCK/p-MLC signaling pathway and enhance the expression of tight junction protein, thereby reducing intestinal mucosal permeability, promoting mucosal barrier repair, decreasing LPS release into the blood, and ultimately lowering blood pressure.
6.Controllability Analysis of Structural Brain Networks in Young Smokers
Jing-Jing DING ; Fang DONG ; Hong-De WANG ; Kai YUAN ; Yong-Xin CHENG ; Juan WANG ; Yu-Xin MA ; Ting XUE ; Da-Hua YU
Progress in Biochemistry and Biophysics 2025;52(1):182-193
ObjectiveThe controllability changes of structural brain network were explored based on the control and brain network theory in young smokers, this may reveal that the controllability indicators can serve as a powerful factor to predict the sleep status in young smokers. MethodsFifty young smokers and 51 healthy controls from Inner Mongolia University of Science and Technology were enrolled. Diffusion tensor imaging (DTI) was used to construct structural brain network based on fractional anisotropy (FA) weight matrix. According to the control and brain network theory, the average controllability and the modal controllability were calculated. Two-sample t-test was used to compare the differences between the groups and Pearson correlation analysis to examine the correlation between significant average controllability and modal controllability with Fagerström Test of Nicotine Dependence (FTND) in young smokers. The nodes with the controllability score in the top 10% were selected as the super-controllers. Finally, we used BP neural network to predict the Pittsburgh Sleep Quality Index (PSQI) in young smokers. ResultsThe average controllability of dorsolateral superior frontal gyrus, supplementary motor area, lenticular nucleus putamen, and lenticular nucleus pallidum, and the modal controllability of orbital inferior frontal gyrus, supplementary motor area, gyrus rectus, and posterior cingulate gyrus in the young smokers’ group, were all significantly different from those of the healthy controls group (P<0.05). The average controllability of the right supplementary motor area (SMA.R) in the young smokers group was positively correlated with FTND (r=0.393 0, P=0.004 8), while modal controllability was negatively correlated with FTND (r=-0.330 1, P=0.019 2). ConclusionThe controllability of structural brain network in young smokers is abnormal. which may serve as an indicator to predict sleep condition. It may provide the imaging evidence for evaluating the cognitive function impairment in young smokers.
7.Correlation of knee joint asymmetry with balance and walking ability in hemiplegic stroke patients
Zheng-Hua XIAO ; Jiang MA ; Hong LI ; Fang WANG ; Li-Ying GUO ; Xiao-Lin TAO ; Feng ZHANG ; Ya-Yong LI ; Xiao-Li YAN
Medical Journal of Chinese People's Liberation Army 2025;50(2):134-140
Objective To explore the correlation of bilateral knee joint strength asymmetry with balance,walking ability,and motor function in hemiplegic stroke patients,providing a reference for clinical assessment of stroke patients.Methods A total of 46 hemiplegic stroke patients admitted to the Rehabilitation Medicine Department of People's Hospital of Shijiazhuang from February to December 2023 were selected.According to the Berg Balance Scale(BBS)scores,patients were divided into Group A(BBS score≤20,n=23)and Group B(BBS score>20,n=23).The peak torque and differences of bilateral knee flexors and extensors were compared between two groups.Isokinetic technology was used to assess the differences in peak torque of bilateral knee joints at 60°/s and 120°/s.BBS,Functional Ambulation Classification(FAC),and Fugl-Meyer Assessment of Lower Extremity(FMA-LE)were used to evaluate patients'balance,walking ability,and lower limb motor function.The correlation between bilateral knee joint peak torque and its difference with the scores of three functional scales was analyzed.Results The peak torque of knee flexors and extensors at 60°/s in group A was significantly lower than that in group B(P<0.05).At both 60°/s and 120°/s the differences in peak torque between the healthy and affected sides of knee flexors and extensors were greater than those in group B(P<0.05).At 60°/s,the difference in peak torque of bilateral knee extensors in hemiplegic stroke patients was negatively correlated with the scores of BBS,FAC,and FMA-LE(r=-0.569,-0.582,-0.606,P<0.01),as did the knee flexors(r=-0.534,-0.386,-0.458,P<0.05).At 120°/s,similar negative correlations were observed for both knee extensors(r=-0.304,-0.304,-0.443,P<0.05)and flexors(r=-0.337,-0.349,-0.370,P<0.05).Conclusions Bilateral knee joint strength asymmetry in hemiplegic stroke patients is negatively correlated with balance and walking ability.The difference in strength between the two sides of knee joint may be one of the clinical indicators for evaluating the motor function of stroke patients.
8.Effect of miR-185-5p targeted negative regulation of TM9SF1 on proliferation,migration and autophagy in lung adenocarcinoma cells
Xiao-Na WANG ; Xiu-Ying GONG ; Miao-Miao ZHAO ; Qing-Hua LIU ; Yong LI ; Kun WANG ; Chong-Gao YIN ; Hong-Li LI
Medical Journal of Chinese People's Liberation Army 2025;50(5):566-574
Objective To investigate the effect of miR-185-5p-mediated targeted negative regulation of transmembrane 9 superfamily member 1(TM9SF1)on proliferation,migration and autophagy in lung adenocarcinoma cells.Methods The expression of miR-185-5p in lung adenocarcinoma tissues was analyzed using dataset GSE51853 downloaded from the Gene Expression Omnibus(GEO)database.Potential target proteins of miR-185-5p were predicted using online databases(miRTargetLink,miRTarbase,and DIANA-microT-CD),and autophagy-related proteins were obtained from HADb.The intersected results from these four databases was identified,and survival curves of vascular endothelial growth factor A(VEGFA)and TM9SF1 within the overlapping candidates were analyzed using the StarBase database.TM9SF1 3'UTR wild-type(WT)or TM9SF1 3'UTR mutant(MUT)reporter plasmids were separately co-transfected with miR-185-5p control plasmid(CON)or miR-185-5p overexpression plasmid(over-miR-185-5p)into HEK-293T cells.A dual-luciferase reporter gene assay was employed to assess the binding interaction between miR-185-5p and TM9SF1 and quantify the subsequent luciferase activity.Western blotting was used to assess TM9SF1 protein expression levels in A549 cells transfected with over-miR-185-5p.A549 cells were divided into three groups:(1)CON+NC group,co-transfected with miR-185-5p control plasmid and TM9SF1 control plasmid;(2)over-miR-185-5p+NC group,co-transfected with over-miR-185-5p and TM9SF1 control plasmid;(3)over-miR-185-5p+over-TM9SF1 group,co-transfected with both miR-185-5p and TM9SF1 overexpression plasmids.EdU cell proliferation assay,wound healing assay,and Transwell migration assay were performed to validate the effects of miR-185-5p targeted binding to TM9SF1 on proliferation and migration capacities in lung adenocarcinoma.Changes in autophagic flux and mitochondrial membrane potential(MMP)of lung adenocarcinoma cells were detected using stubRFP-sensGFP-LC3 lentivirus and JC-1 assays,respectively.Results In the GSE51853 dataset,miR-185-5p expression level was significantly lower in lung adenocarcinoma tissues compared with normal lung tissues(P<0.01).qRT-PCR analysis revealed that miR-185-5p expression was downregulated in lung adenocarcinoma cell lines NCI-H1299 and A549 compared with normal lung epithelial cells BEAS-2B(P<0.01).Bioinformatics predictions using miRTargetLink,miRTarbase,DIANA-microT-CD,and HADb databases indicated that miR-185-5p could target and regulate the autophagy-related protein TM9SF1.Dual-luciferase reporter assays and Western blotting demonstrated that miR-185-5p directly bound to the 3'UTR region of TM9SF1 mRNA,and overexpression of miR-185-5p significantly reduced the expression of target protein TM9SF1(P<0.05).EdU cell proliferation,wound healing,and Transwell migration assays demonstrated that miR-185-5p overexpression inhibited proliferation and migration capacities of lung adenocarcinoma cells,whereas TM9SF1 overexpression could attenuate this inhibition effect(P<0.05).Results of stubRFP-sensGFP-LC3 for autophagic flux analysis demonstrated that overexpression of miR-185-5p enhanced autophagic flux in A549 cells,whereas co-overexpression of miR-185-5p and TM9SF1 suppressed autophagic flux.JC-1 assays showed a decreased MMP level in A549 cells after miR-185-5p overexpression,with higher MMP level observed when miR-185-5p and TM9SF1 were co-overexpressed.Conclusion miR-185-5p may suppress proliferation,migration,and autophagy capacities in lung adenocarcinoma cells by targeting TM9SF1 through negative regulation.
9.Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene.
Dayan SUN ; Shixuan ZHANG ; Junmin LIAO ; Shuangshuang LI ; Dingding WANG ; Ya'nan ZHANG ; Yichao GU ; Kaiyun HUA ; Jinshi HUANG ; Yong ZHAO
Chinese Journal of Medical Genetics 2025;42(12):1437-1445
OBJECTIVE:
To explore the clinical phenotype and genetic characteristics of a child with Progressive familial intrahepatic cholestasis type 8 (PFIC8). METHODS A child with PFIC diagnosed at Beijing Children's Hospital Affiliated to Capital Medical University in September 2025 was selected as the study subject. Peripheral venous blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was classified based on the guidelines from American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Beijing Children's Hospital Affiliated to Capital Medical University (Ethics No.: 2023-E-126-Y).
RESULTS:
The proband, a 2-month-old female infant, had manifested jaundice of the skin and sclera, and slightly distended abdomen. She had no visible abdominal wall varicose veins, soft abdomen, and no palpable masses. Biliary atresia was ruled out by intraoperative cholangiography. WES revealed that she has harbored compound heterozygous variants of KIF12 gene, namely c.809C>T (p.Ala270Val) and c.1313G>A (p.Arg438Lys), which were verified by Sanger sequencing to have derived from her mother and father, respectively. According to the ACMG guidelines, both variants were classified as variants of uncertain significance (VUS). Based on the pre-defined search strategy, 10 articles were retrieved, which involved 25 PFIC cases, including 5 from China. Together with the proband of this study, the 26 PFIC patients have primarily presented with high GGT cholestasis, with the genetic cause in all cases attributed to variants of the KIF12 gene.
CONCLUSION
The c.809C>T and c.1313G>A compound heterozygous variants of the KIF12 gene probably underlay the pathogenesis of cholestatic liver disease in this child. Above findings have enriched the mutational and phenotypic spectra of PFIC8.
Humans
;
Kinesins/genetics*
;
Female
;
Cholestasis, Intrahepatic/genetics*
;
Infant
;
Heterozygote
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Mutation
;
Exome Sequencing
;
Male
10.Quality evaluation of Gegen Formula Granules
Dai-liang ZHANG ; Chun-xia WANG ; Lei SHI ; Yu-kang LIU ; Yong-qiang LIN ; Yu-zhuo WANG ; Jing-hua ZHANG ; Jin-xin LI ; Gui-yun CAO ; Zhao-qing MENG
Chinese Traditional Patent Medicine 2025;47(5):1421-1431
AIM To evaluate the quality of Gegen Formula Granules.METHODS Linear calibration with two reference substances(LCTRS)was adopted in the predicting of retention time with puerarin and daidzein as internal standards.UPLC characteristic chromatograms were established.The contents of 3'-hydroxy puerarin,puerarin(internal standard),3'-methoxy puerarin,puerarin 6"-O-xyloside,puerarin apioside and daidzin were determined by quantitative determination analysis multi-components by a single marker(QAMS),after which their transfer rates were calculated.RESULTS Compared with relative retention time method,LCTRS demonstrated higher positional accuracy for characteristic peaks and wider application range for columns.There were 9 characteristic peaks in the characteristic chromatograms for 14 batches of formula granules and 15 batches of standard decoctions with the similarities of more than 0.95.The contents and transfer rates of various constituents in formula granules and standard decoctions were basically consistent.CONCLUSION The chemical constituents in formula granules and their standard decoctions of Puerariae lobatae Radix display good consistency,reliable preparation process is observable in the former.

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