1.Integrative transcriptomic and epigenomic analysis identifies BCL6B as a novel regulator of human pluripotent stem cell to endothelial differentiation.
Yonglin ZHU ; Jinyang LIU ; Jia WANG ; Shuangyuan DING ; Hui QIU ; Xia CHEN ; Jianying GUO ; Peiliang WANG ; Xingwu ZHANG ; Fengzhi ZHANG ; Rujin HUANG ; Fuyu DUAN ; Lin WANG ; Jie NA
Protein & Cell 2025;16(11):985-990
2.Study on Internal Prescription Medication of Palmoplantar Pustulosis in Traditional Chinese Medicine Based on Literature Data Mining Exploration
Siwei HAN ; Xingwu DUAN ; Keshuai LIU
Journal of Zhejiang Chinese Medical University 2024;48(5):601-608
[Objective]To analyze the prescription medication pattern of internal Chinese drugs for palmoplantar pustulosis(PPP)based on data mining method.[Methods]China National Knowledge Infrastructure(CNKI),Wanfang Data Knowledge Service Platform,China Science and Technology Journal Database and China Biology Medicine disc(CBMdisc)were searched for literature on traditional Chinese medicine(TCM)treatment of PPP from self-establishment date to June 2023,and prescriptions that met the inclusion criteria were screened,standardized and analyzed by drug efficacy categorization,frequency analysis,nature and flavor channel tropism analysis,association rule analysis and entropy clustering analysis for the patterns of drug use.[Results]In the internal treatment of PPP,the most frequently used drugs are"clearing heat and detoxifying""clearing heat and cooling blood""clearing heat and drying dampness";the most frequently used drugs are Rhizoma Smilacis Glabrae,Rehmannia glutinosa Libosch and Glycyrrhizae Radix et Rhizoma;in the analysis of the association of drug use patterns,the top three drugs with high frequency are Rehmannia glutinosa Libosch-Moutan Cortex,Rhizoma Smilacis Glabrae-Glycyrrhizae Radix et Rhizoma,Lonicerae Japonicae Flos-Forsythia suspensa(Thunb.)Vahl.In the analysis of combination pattern rule,Moutan Cortex→Rehmannia glutinosa Libosch,Forsythia suspensa(Thunb.)Vahl→Lonicerae Japonicae Flos,Dictamnus dasycarpus Turcz→Rhizoma Smilacis Glabrae with high confidence;28 potential core combinations and 14 new prescriptions were obtained based on entropy clustering formula grouping rule analysis.[Conclusion]The internal treatment of PPP in TCM often focuses on clearing heat and dispelling dampness as the core of treatment,selecting bitter and cold drugs,focusing on the liver and stomach meridians.The use of Rhizoma Smilacis Glabrae and Rehmannia glutinosa Libosch in the prescription,as well as the combination of Rehmannia glutinosa Libosch and Moutan Cortex,Rhizoma Smilacis Glabrae and Dictamnus dasycarpus Turcz,Lonicerae Japonicae Flos and Forsythia suspensa(Thunb.)Vahl,have great clinical and scientific value.By mining potential and implicit drug formulation patterns in the data,a core combination of dispelling dampness and heat as well as cooling blood and detoxifying can be derived,providing reference for clinical research and prescription medication in the internal treatment of PPP in TCM.
3.Development and Validation of a Risk Prediction Model for Prolonged Hospitalization in Patients With Diabetic Foot Ulcers
Bingxue WANG ; Ting LIN ; Jing WU ; Hongping GONG ; Yan REN ; Panpan ZHA ; Lihong CHEN ; Guanjian LIU ; Dawei CHEN ; Chun WANG ; Xingwu RAN
Journal of Sichuan University (Medical Sciences) 2024;55(4):972-979
Objective To investigate the risk factors associated with prolonged hospitalization in patients diagnosed with diabetic foot ulcers(DFU),to develop a predictive model,and to conduct internal validation of the model.Methods The clinical data of DFU patients admitted to West China Hospital,Sichuan University between January 2012 and December 2022 were retrospectively collected.The subjects were randomly assigned to a training cohort and a validation cohort at a ratio of 7 to 3.Hospital stays longer than 75th percentile were defined as prolonged length-of-stay.A thorough analysis of the risk factors was conducted using the training cohort,which enabled the development of an accurate risk prediction model.To ensure robustness,the model was internally validated using the validation cohort.Results A total of 967 inpatients with DFU were included,among whom 245 patients were identified as having an extended length-of-stay.The training cohort consisted of 622 patients,while the validation cohort comprised 291 patients.Multivariate logistic regression analysis revealed that smoking history(odds ratio[OR]=1.67,95%confidence interval[CI],1.13 to 2.48,P=0.010),Wagner grade 3 or higher(OR=7.13,95%CI,3.68 to 13.83,P<0.001),midfoot ulcers(OR=1.99,95%CI,1.07 to 3.72,P=0.030),posterior foot ulcers(OR=3.68,95%CI,1.83 to 7.41,P<0.001),multisite ulcers(OR=2.91,95%CI,1.80 to 4.69,P<0.001),wound size≥3 cm2(OR=2.00,95%CI,1.28-3.11,P=0.002),and white blood cell count(OR=1.11,95%CI,1.05 to 1.18,P<0.001)were associated with an increased risk of prolonged length of stay.Additionally,a nomogram was constructed based on the identified risk factors.The areas under the receiver operating characteristic(ROC)curves for both the training cohort and the validation cohort were 0.782(95%CI,0.745 to 0.820)and 0.756(95%CI,0.694 to 0.818),respectively,indicating robust predictive performance.Furthermore,the calibration plot demonstrated optimal concordance between the predicted probabilities and the observed outcomes in both the training and the validation cohorts.Conclusion Smoking history,Wagner grade≥3,midfoot ulcers,posterior foot ulcers,multisite ulcers,ulcer area≥3 cm2,and elevated white blood cell count are identified as independent predictors of prolonged hospitalization.Therefore,it is imperative that clinicians conduct a comprehensive patient evaluation and implement appropriate diagnostic and therapeutic strategies to effectively shorten the length of stay for DFU patients.
4.Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy.
Jia CHEN ; Xingwu WU ; Ge CHEN ; Pengpeng MA ; Wan LU ; Zhihui HUANG ; Cailin XIN ; Yan ZHAO ; Qiongfang WU ; Yanqiu LIU
Chinese Journal of Medical Genetics 2023;40(2):148-154
OBJECTIVE:
To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M).
METHODS:
A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification. Real-time PCR and Sanger sequencing were used to detect the SMN1 variants in the single sperm samples. Genomic DNA of the wife, her parents and the husband, as well as one single sperm sample harboring the SMN1 variant and two single sperm samples without the variant were used for the linkage analysis. Targeted capture and high-throughput sequencing were carried out to test 100 single nucleotide polymorphisms distributed within 2 Mb up- and downstream the variant site. The haplotypes linked with the SMN1 variants were determined by linkage analysis. Blastocyst embryos were harvested after fertilizing by intracytoplasmic sperm injection. Cells from the trophoblasts of each embryo were biopsied and subjected to whole genome amplification and targeted capture and high-throughput sequencing to determine their carrier status. Chromosomal aneuploidy of wild-type embryos was excluded. An euploid embryo of high quality was transferred. Amniotic fluid sample was taken at 18 weeks of gestation to confirm the status of the fetus.
RESULTS:
Genetic testing showed that the couple both had deletion of exons 7 ~ 8 of the SMN1 gene. The wife has inherited the deletion from her father, while the husband was de novo. The haplotypes of the husband were successfully constructed by single sperm sequencing. Preimplantation genetic testing has indicated that 5 embryos had harbored the heterozygous variant, 4 embryos were of the wild type, among which 3 were euploid. Prenatal diagnosis during the second trimester of pregnancy has confirmed that the fetus did not carry the deletion.
CONCLUSION
By single sperm sequencing and PGT-M, the birth of further affected child has been successfully avoided.
Humans
;
Pregnancy
;
Female
;
Child
;
Male
;
Preimplantation Diagnosis
;
East Asian People
;
Semen
;
Genetic Testing
;
Muscular Atrophy, Spinal/genetics*
;
Aneuploidy
;
Blastocyst/pathology*
;
High-Throughput Nucleotide Sequencing
;
Spermatozoa
5.Application of polar body sequencing for preimplantation genetic testing of a female patient with Van der Woude syndrome
Jia CHEN ; Xingwu WU ; Lifeng TIAN ; Ge CHEN ; Zhihui HUANG ; Cailin XIN ; Yan ZHAO ; Yanqiu LIU ; Qiongfang WU
Chinese Journal of Reproduction and Contraception 2023;43(1):78-83
Objective:To explore the value of polar body sequencing in preimplantation genetic testing (PGT) for monogenic disease of a female patient with Van der Woude syndrome.Methods:PGT based on polar body sequencing was performed for a female patient with Van der Woude syndrome caused by a de novoIRF6 pathogenic variant. Totally six oocytes were fertilized by intracytoplasmic sperm injection (ICSI). The first, second polar bodies and the trophoblast ectoderm cells of blastocysts were biopsied respectively. Sanger sequencing was used to detect the pathogenic variant in the biopsied cells after genome-wide amplification. The genotypes and pathogenic possibilities of the embryos were inferred according to the genotypes of corresponding tested polar bodies. In order to prevent the absence of transplantable embryos due to the failure of blastocyst culture, vitrification was performed on an embryo with good morphology and low pathogenic possibility before blastocyst formation. The 175 single nucleotide polymorphisms (SNPs) within the 1M region upstream and downstream from the pathogenic variant location were tested by targeted capture sequencing in the couple and selected polar bodies and embryos to construct the haplotypes. An embryo with low pathogenic possibility was transferred. Prenatal diagnosis was strongly recommended after successful pregnancy. Prenatal and postnatal follow-up were performed. Results:Totally six first polar bodies and six second polar bodies were obtained. The pathogenic variant was successfully sequenced in 11 polar bodies. Among the six embryos, one embryo with low pathogenic possibility was vitrified on day 4 (D4) after fully informed consent of the couple; one embryo developed to blastocyst was detected with high pathogenic possibility; the other four embryos were degenerated during blastocyst culture. The SNP haplotypes closely linked to the pathogenic variant location were successfully constructed by linkage analysis. The haplotype analysis of the embryos was in consistent with Sanger sequencing. The D4 embryo with low pathogenic possibility was transferred. The couple refused to conduct invasive prenatal diagnosis after pregnancy. None orofacial clefts were detected after the baby was born, and the pathogenic variant was not detected in the neonatal cord blood either.Conclusion:This study successfully blocked a female patient with Van der Woude syndrome caused by a de novoIRF6 pathogenic variant give birth to an affected baby by polar body sequencing based preimplantation genetic testing for monogenic disease.
6.Characteristics of Inflammatory Markers in Diabetic Foot Patients and Their Relationship With Prognosis of Diabetic Foot Ulcers
Jing WU ; Bista RAJU ; Panpan ZHA ; Hongping GONG ; Yan REN ; Zhenyi LI ; Lihong CHEN ; Guanjian LIU ; Dawei CHEN ; Chun WANG ; Xingwu RAN
Journal of Sichuan University (Medical Sciences) 2023;54(6):1233-1238
Objective To explore the characteristics of baseline inflammatory markers in diabetic foot patients and their relationship with the prognosis of diabetic foot ulcers.Methods The clinical data of diabetic foot patients(n=495)admitted to West China Hospital,Sichuan University since 2016 were retrospectively collected through the hospital electronic medical record system to analyze the characteristics of inflammatory markers and their relationship with the prognosis of diabetic foot ulcers.Results White blood cell count(WBC),erythrocyte sedimentation rate(ESR),C-reactive protein(CRP),procalcitonin(PCT),and interleukin-6(IL-6)levels were significantly higher in patients defined as grade 4 on the Wagner Scale than those in patients defined as grade 0-3 on the Wagner Scale.Neutrophil percentage(NE%)was higher in Wagner grade-4 patients than those in Wagner grade-0 and grade-1 patients and higher in Wagner grade-3 patients than those in Wagner grade-0 patients.NE%,CRP,PCT,and IL-6 levels were positively correlated with the severity of diabetic foot,with the respective odds ratio(OR)at 95%confidence interval(CI)being 1.038(1.019-1.056),1.019(1.012-1.026),8.225(2.015-33.576),and 1.017(1.008-1.025).Using Wagner grade-0 patients as the reference,patients with higher WBC were more likely to progress to Wagner grade 2,3,and 4,with the respective OR(95%CI)values being 1.260(1.096-1.447),1.188(1.041-1.356),and 1.301(1.137-1.490);patients with higher ESR were more likely to progress to Wagner grade 3 and 4,with the respective OR(95%CI)values being 1.030(1.006-1.054)and 1.045(1.019-1.071).Baseline ESR(P=0.008),CRP(P=0.039),and IL-6(P=0.033)levels were lower in patients who had received antibiotics prior to their admission than those in patients who had not received antibiotics before admission.The levels of WBC,NE%,ESR,PCT,and IL-6 were lower in the full recovery group than those in the group of patients who did not respond to treatment.The higher the levels of NE%and IL-6,the worse the prognosis of diabetic foot ulcers became,with the respective OR(95%CI)values being 1.030(1.010-1.051)and 1.008(1.002-1.013).Conclusion The severity of diabetic foot ulcers increased with the rise in baseline levels of inflammatory markers.Elevated baseline NE%and IL-6 levels suggest a poor prognosis.Our findings suggest that early assessment of diabetic foot infection and standardized antibiotic therapy should be implemented to improve the prognosis.
7.Application of polar body sequencing for preimplantation genetic testing of a female patient with Van der Woude syndrome
Jia CHEN ; Xingwu WU ; Lifeng TIAN ; Ge CHEN ; Zhihui HUANG ; Cailin XIN ; Yan ZHAO ; Yanqiu LIU ; Qiongfang WU
Chinese Journal of Reproduction and Contraception 2023;43(1):78-83
Objective:To explore the value of polar body sequencing in preimplantation genetic testing (PGT) for monogenic disease of a female patient with Van der Woude syndrome.Methods:PGT based on polar body sequencing was performed for a female patient with Van der Woude syndrome caused by a de novoIRF6 pathogenic variant. Totally six oocytes were fertilized by intracytoplasmic sperm injection (ICSI). The first, second polar bodies and the trophoblast ectoderm cells of blastocysts were biopsied respectively. Sanger sequencing was used to detect the pathogenic variant in the biopsied cells after genome-wide amplification. The genotypes and pathogenic possibilities of the embryos were inferred according to the genotypes of corresponding tested polar bodies. In order to prevent the absence of transplantable embryos due to the failure of blastocyst culture, vitrification was performed on an embryo with good morphology and low pathogenic possibility before blastocyst formation. The 175 single nucleotide polymorphisms (SNPs) within the 1M region upstream and downstream from the pathogenic variant location were tested by targeted capture sequencing in the couple and selected polar bodies and embryos to construct the haplotypes. An embryo with low pathogenic possibility was transferred. Prenatal diagnosis was strongly recommended after successful pregnancy. Prenatal and postnatal follow-up were performed. Results:Totally six first polar bodies and six second polar bodies were obtained. The pathogenic variant was successfully sequenced in 11 polar bodies. Among the six embryos, one embryo with low pathogenic possibility was vitrified on day 4 (D4) after fully informed consent of the couple; one embryo developed to blastocyst was detected with high pathogenic possibility; the other four embryos were degenerated during blastocyst culture. The SNP haplotypes closely linked to the pathogenic variant location were successfully constructed by linkage analysis. The haplotype analysis of the embryos was in consistent with Sanger sequencing. The D4 embryo with low pathogenic possibility was transferred. The couple refused to conduct invasive prenatal diagnosis after pregnancy. None orofacial clefts were detected after the baby was born, and the pathogenic variant was not detected in the neonatal cord blood either.Conclusion:This study successfully blocked a female patient with Van der Woude syndrome caused by a de novoIRF6 pathogenic variant give birth to an affected baby by polar body sequencing based preimplantation genetic testing for monogenic disease.
8.The influence of three lubricant eye drop on effects and ocular surface of myopia patients after orthokeratology lenses wearing
Lina LIU ; Xingwu ZHONG ; Hongshan LIU ; Yongqing CHEN
Chinese Journal of Experimental Ophthalmology 2020;38(6):499-503
Objective:To compare the difference of the ocular surface and efficacy of orthokeratology lenses wearing after using sodium hyaluronate eye drops, rewetting drops and saline solution.Methods:A randomized single-blind controlled trial was conducted.A total of 90 right eyes from 90 myopic patients were recruited from June 2017 to April 2018 in Hainan Eye Hospital.All the subjects received vision correction by orthokeratology lens, and were randomly divided into three groups by random number table method, with 30 eyes in each group.The sodium hyaluronate group was given preservative-free sodium hyaluronate eye drops (1 g/L), the rewetting drops group was given rewetting drops, and the saline solution group was given nonpreserved 0.9% NaCl.The vision, subjective refraction, corneal topography, non-invasive first tear film break-up time(NIKf-BUT) and fluorescein stain of corneal epithelium (FL) were detected before and 1 day, 1 week, 1 month, 3 months after the lens wearing.This study adhered to the Declaration of Helsinki and was approved by the institutional Ethical Committee Review Board of Hainan Eye Hospital.Results:The NIKf-BUT in the sodium hyaluronate group at 1 day, 1 week, 1 month and 3 months after wearing orthokeratology lens was (7.13±1.71), (6.61±1.49), (6.37±1.82) and (7.01±1.63) seconds, respectively, which was obviously higher than (6.32±1.71), (5.53±1.42), (5.57±1.50) and (6.17±1.63) seconds in the rewetting drops group at the corresponding time points and (6.36±1.58), (5.81±1.49), (5.74±1.77) and (6.28±1.53) seconds in the saline solution group at the corresponding time points (all at P<0.05). There was no statistically significant difference in FL score between the rewetting drops group and saline solution group at 1 day, 1 week, 1 month and 3 months after wearing the orthokeratology lens (all at P>0.05). Lower FL scores were observed in the sodium hyaluronate group compared to the the rewetting drops group and saline solution group after wearing the orthokeratology lens (all at P<0.05). No differences were found in uncorrected visual acuity, spherical equivalent and average K value among the groups (all at P>0.05). Conclusions:Compared with the rewetting drops and saline solution, the preservative-free sodium hyaluronate eye drops can stabilize the tear film and have less effect on corneal epithelium at the early stage of orthokeratology lens wearing.However, there is no significant difference in the improvement of visual acuity and the rate of corneal shaping.
9.In vitro interactions between antifungals and tacrolimus against Fusarium solani
Xiaolian CHEN ; Hui DING ; Hongshan LIU ; Hong HE ; Jiaochan WU ; Xianlyu HU ; Xingwu ZHONG
Chinese Journal of Experimental Ophthalmology 2020;38(8):653-658
Objective:To investigate the in vitro interaction between antifungals and tacrolimus against Fusarium solani. Methods:According to Clinical and Laboratory Standards Institute(CLSI) M27-Ed4 and M38-A3, 24 strains of Fusarium solani isolated from clinic were used to test the minimal inhibitory concentration (MIC) of the four antifungals.Chessboard microdilution method was used to evaluate the interaction of tacrolimus (FK506) combined with four antifungals in vitro.The study protocol was approved by the Ethics Committee of Hainan Eye Hospital (No.2017-006). Results:The MIC ranges of fluconazole, voriconazole, natamycin and amphotericin B against 24 strains of Fusarium were 64-256 μg/ml, 1-8 μg/ml, 2-8 μg/ml and 1-8 μg/ml, respectively.Tacrolimus combined with fluconazole, voriconazole, natamycin and amphotericin B had synergistic effects on 12.5% (3/24), 4.2% (1/24), 16.7% (4/24) and 29.2% (7/24) Fusarium, respectively.There were no antagonistic effect in this study. Conclusions:Fusarium is sensitive to natamycin in vitro and partly sensitive to amphotericin B and voriconazole.Synergistic effects exist in few strains of Fusarium but no antagonistic effect.
10.Recent advance in diffusion tensor imaging in assisting surgery of complex intracranial neoplasms
Xingwu LIU ; Zhiqiang FA ; Xiaozheng HE ; Shizhong ZHANG
Chinese Journal of Neuromedicine 2020;19(10):1075-1079
Diffusion tensor imaging (DTI) is a neuroimaging technique which provides exquisite details on tissue microstructure. DTI also plays an important role in 3D reconstruction and visualization of white matter tracts and providing information about the relationship between these tracts and the tumor mass. DTI can not only guide neurosurgeons to optimize the actual surgical procedures and avoid injures to intact, functioning tracts, but also can improve the total rate resection of tumor. At the same time, it can also assist in preoperative risk assessment and postoperative functional assessment. This review is classified by different tractographies involved in brain tumors; it summarizes the advantages and disadvantages of DTI in the last decade. Therefore, this review provides new research methods and evidence for the future complex intracranial tumor treatment.

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