1.Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I.
Bingjie HU ; Xianhong DING ; Yang LU ; Hongliang CHEN ; Shuaishuai CHEN ; Mengyi XU ; Yicheng FANG ; Bo SHEN
Chinese Journal of Medical Genetics 2026;43(1):19-30
OBJECTIVE:
To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1).
METHODS:
Twenty two NF1 patients who presented at Enze Medical (Center) Group in Taizhou between 2018 and 2024 were selected as the study subjects. Clinical phenotype and family history were collected for the patients. Whole exome sequencing (WES) was carried out for the 22 probands to screen the variants of NF1 gene. Candidate variants were verified by Sanger sequencing of their family members. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: K20230902).
RESULTS:
The 22 probands were diagnosed between the age of 5 months to 47 years old, and have all shown cafe au lait spots on their skin. Seventeen patients exhibited the phenotype at birth, and 11 had various degrees of neurofibromatosis. Among them, probands 1 and 13 underwent surgical resection of the tumor but had recurred, while proband 12 had amputation due to the huge size and serious impact of the neurofibroma and had no recurrence. Five patients had various degrees of scoliosis. In total 22 germline mutations and one somatic mutation were identified among the 22 families, with 5 variants unreported previously, including 1 nonsense mutation c.1603C>T (Q535*), 3 frameshift mutations [c.7268_7269delCA (Thr2423fs), c.2293del (Arg765Alafs*26), and c.5433_5438delinsGC (Phe1812ArgfsTer50)], and 1 deletion involving exons 41-44 of the NF1 gene and adjacent introns. Proband 13 was found to harbor germline mutation c.6796C>T (Gln2266Ter) and somatic mutation c.1019_1020del (Ser340Cysfs Ter12) in the peripheral blood and tumor tissue, respectively. Among the 22 NF1 probands, 6 had received treatment due to severe illness. Proband 1 had tumor resection in the right upper limb, but was found to have malignant lung tumor and died during follow-up. Proband 12 had multiple recurrence of neurofibroma in the left ring finger. Proband 4 underwent spinal correction surgery due to severe scoliosis. Proband 11 had died due to a central nervous system disease. Among the 22 germline mutations, 6 had led to the occurrence of truncated proteins, which may have a more severe impact on the phenotype.
CONCLUSION
This study investigated the genetic variants and clinical phenotypes of 22 NF1 families and identified 5 novel variants of the NF1 gene, which has expanded the genotypic and phenotypic spectra of the NF1. Preliminary studies have identified an association between truncated mutations, young age, and severe phenotypes, which may provide important clues for prognosis evaluation. For the clinical diagnosis and treatment of NF1, it is necessary to consider the phenotypic characteristics and genetic testing in combination with genetic counseling and long-term follow-up.
Humans
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Neurofibromatosis 1/pathology*
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Male
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Female
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Pedigree
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Adult
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Child
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Child, Preschool
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Middle Aged
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Adolescent
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Infant
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Young Adult
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Neurofibromin 1/genetics*
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Phenotype
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Asian People/genetics*
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Mutation
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Exome Sequencing
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East Asian People
2.Effect of sacroiliac joint ankylosis on outcomes of L5/S1 transforminal lumbar interbody fusion and lumbar sagittal parameters
Yalei WANG ; Xuezhi WANG ; Tao ZHOU ; Xinxin SHEN ; Ding FANG ; Hongliang CHEN
Chinese Journal of Tissue Engineering Research 2026;30(3):634-641
BACKGROUND:The correlation between sacroiliac joint degeneration and lumbar degenerative disease has been analyzed in the literature in the past,but the clinical efficacy and imaging changes after interbody fusion with sacroiliac joint ankylosis in patients with lumbar degenerative disease have not been reported in the literature.OBJECTIVE:To investigate the effect of sacroiliac joint ankylosis on the clinical efficacy and lumbar sagittal regression after L5/S1 single-segment transforminal lumbar interbody fusion in patients with lumbar degenerative disease.METHODS:Thirty-seven patients who underwent L5/S1 segmental transforminal lumbar interbody fusion for lumbar degenerative disease with sacroiliac joint ankylosis between June 2020 and September 2023 in Affiliated Hospital of Xuzhou Medical University were retrospectively analyzed as group A.Thirty-seven patients with lumbar degenerative disease without sacroiliac joint ankylosis who were matched for general information during the same period were selected as controls in group B.Clinical efficacy was assessed using the Oswestry disability index and visual analog scale for lumbar and lower limb pain.The lumbar sagittal parameters included lumbar anterior convexity angle,lumbar partial anterior convexity angle,and lower lumbar anterior convexity angle.Pfirrmann grading was used to assess the degree of preoperative disc degeneration,postoperative endplate damage and screw loosening,and to record the fusion of the operated segments at the final postoperative follow-up visit.RESULTS AND CONCLUSION:(1)There was no statistically significant difference in age,body mass index,bone mineral density,operation time,intraoperative bleeding,preoperative primary diagnosis and postoperative follow-up time between the two groups(P>0.05).(2)The preoperative Pfirrmann grading of lumbar disc degeneration in group A patients(3.4±0.9)was significantly higher than that of group B(3.1±0.6),and the difference was statistically significant(t=2.059,P=0.044).(3)All patients showed significant improvement in postoperative lumbar sagittal parameters compared with preoperative ones(all P<0.05).During the follow-up period,there was a loss of correction in patients in group A.There was no statistical difference in the lumbar anterior convexity angle,lower lumbar anterior convexity angle,and local anterior convexity angle at the last follow-up compared with the preoperative period(P>0.05).The lumbar anterior convexity angle,lower lumbar anterior convexity angle,and local anterior convexity angle in group A were significantly lower than those of group B patients at both preoperative and final follow-up,and the differences were statistically significant(all P<0.05).(4)There was no statistically significant difference in postoperative endplate injury between the two groups(x2=0.181,P=0.670),and screw loosening was significantly higher in group A than in group B,with a statistically significant difference(x2=4.163,P=0.041).(5)At the last follow-up,the incidence of grade 3 fusion and grade 4 fusion was significantly higher in group A than in group B.The difference in the distribution of fusion grades between the two groups was statistically significant(x2=7.848,P=0.031).(6)The Oswestry disability index and lower limb visual analog scale scores at the last follow-up of both groups were significantly improved compared with the preoperative period(P<0.05).The visual analog scale scores for low back pain at 3 months after surgery and at the last follow-up of group A were significantly higher than those of group B(t=2.010,P=0.048;t=2.133,P=0.036).(7)It is concluded that regardless of whether it is accompanied by sacroiliac joint ankylosis or not,lumbar degenerative disease patients who undergo interbody fusion with foramen magnum can achieve good therapeutic effects,but lumbar degenerative disease patients with sacroiliac joint ankylosis who undergo interbody fusion with foramen magnum at the L5/S1 segments have a poorer improvement of low back pain than patients without sacroiliac joint ankylosis after the operation.Furthermore,patients with preoperative sacroiliac ankylosis who underwent L5/S1 segmental transforminal lumbar interbody fusion had a low fusion rate and were prone to loss of correction of the lumbar sagittal position.
3.Effect of sacroiliac joint ankylosis on outcomes of L5/S1 transforminal lumbar interbody fusion and lumbar sagittal parameters
Yalei WANG ; Xuezhi WANG ; Tao ZHOU ; Xinxin SHEN ; Ding FANG ; Hongliang CHEN
Chinese Journal of Tissue Engineering Research 2026;30(3):634-641
BACKGROUND:The correlation between sacroiliac joint degeneration and lumbar degenerative disease has been analyzed in the literature in the past,but the clinical efficacy and imaging changes after interbody fusion with sacroiliac joint ankylosis in patients with lumbar degenerative disease have not been reported in the literature.OBJECTIVE:To investigate the effect of sacroiliac joint ankylosis on the clinical efficacy and lumbar sagittal regression after L5/S1 single-segment transforminal lumbar interbody fusion in patients with lumbar degenerative disease.METHODS:Thirty-seven patients who underwent L5/S1 segmental transforminal lumbar interbody fusion for lumbar degenerative disease with sacroiliac joint ankylosis between June 2020 and September 2023 in Affiliated Hospital of Xuzhou Medical University were retrospectively analyzed as group A.Thirty-seven patients with lumbar degenerative disease without sacroiliac joint ankylosis who were matched for general information during the same period were selected as controls in group B.Clinical efficacy was assessed using the Oswestry disability index and visual analog scale for lumbar and lower limb pain.The lumbar sagittal parameters included lumbar anterior convexity angle,lumbar partial anterior convexity angle,and lower lumbar anterior convexity angle.Pfirrmann grading was used to assess the degree of preoperative disc degeneration,postoperative endplate damage and screw loosening,and to record the fusion of the operated segments at the final postoperative follow-up visit.RESULTS AND CONCLUSION:(1)There was no statistically significant difference in age,body mass index,bone mineral density,operation time,intraoperative bleeding,preoperative primary diagnosis and postoperative follow-up time between the two groups(P>0.05).(2)The preoperative Pfirrmann grading of lumbar disc degeneration in group A patients(3.4±0.9)was significantly higher than that of group B(3.1±0.6),and the difference was statistically significant(t=2.059,P=0.044).(3)All patients showed significant improvement in postoperative lumbar sagittal parameters compared with preoperative ones(all P<0.05).During the follow-up period,there was a loss of correction in patients in group A.There was no statistical difference in the lumbar anterior convexity angle,lower lumbar anterior convexity angle,and local anterior convexity angle at the last follow-up compared with the preoperative period(P>0.05).The lumbar anterior convexity angle,lower lumbar anterior convexity angle,and local anterior convexity angle in group A were significantly lower than those of group B patients at both preoperative and final follow-up,and the differences were statistically significant(all P<0.05).(4)There was no statistically significant difference in postoperative endplate injury between the two groups(x2=0.181,P=0.670),and screw loosening was significantly higher in group A than in group B,with a statistically significant difference(x2=4.163,P=0.041).(5)At the last follow-up,the incidence of grade 3 fusion and grade 4 fusion was significantly higher in group A than in group B.The difference in the distribution of fusion grades between the two groups was statistically significant(x2=7.848,P=0.031).(6)The Oswestry disability index and lower limb visual analog scale scores at the last follow-up of both groups were significantly improved compared with the preoperative period(P<0.05).The visual analog scale scores for low back pain at 3 months after surgery and at the last follow-up of group A were significantly higher than those of group B(t=2.010,P=0.048;t=2.133,P=0.036).(7)It is concluded that regardless of whether it is accompanied by sacroiliac joint ankylosis or not,lumbar degenerative disease patients who undergo interbody fusion with foramen magnum can achieve good therapeutic effects,but lumbar degenerative disease patients with sacroiliac joint ankylosis who undergo interbody fusion with foramen magnum at the L5/S1 segments have a poorer improvement of low back pain than patients without sacroiliac joint ankylosis after the operation.Furthermore,patients with preoperative sacroiliac ankylosis who underwent L5/S1 segmental transforminal lumbar interbody fusion had a low fusion rate and were prone to loss of correction of the lumbar sagittal position.
4.Hot issues and application prospects of small molecule drugs in treatment of osteoarthritis
Shuai YU ; Jiawei LIU ; Bin ZHU ; Tan PAN ; Xinglong LI ; Guangfeng SUN ; Haiyang YU ; Ya DING ; Hongliang WANG
Chinese Journal of Tissue Engineering Research 2025;29(9):1913-1922
BACKGROUND:Various proteins,signaling pathways,and inflammatory mediators are involved in the pathophysiological process of osteoarthritis.The development of small molecule drugs targeting these proteins,signaling pathways,and inflammatory mediators can effectively delay the progression of osteoarthritis and ameliorate its clinical manifestations. OBJECTIVE:To review the research progress of small molecule drugs in the treatment of osteoarthritis based on the pathogenesis of osteoarthritis. METHODS:PubMed,CNKI,and WanFang databases were searched with English search terms"osteoarthritis,arthritis,osteoarthrosis,degenerative,arthritides,deformans,small molecule drugs,small molecule inhibitors,small molecule agents"and Chinese search terms"osteoarthritis,small molecule drugs,small molecule inhibitors."A total of 68 articles were included for review according to the inclusion and exclusion criteria. RESULTS AND CONCLUSION:(1)Currently,studies concerning the pathogenesis of osteoarthritis remain unclear.The occurrence and development of osteoarthritis are strongly associated with proteins,cytokines,and signal transduction pathways,so its therapeutic mechanism is relatively complex.Currently,targeting proteins,cytokines,and signal transduction pathways related to osteoarthritis with small molecule drugs has become a major research focus.(2)Small molecule drugs frequently possess visible intracellular or extracellular targets and efficacy,containing enhancing cartilage repair,resisting joint degradation,attenuating inflammation,and relieving pain.Other anti-osteoarthritis small molecule drugs have shown promise in promoting stem cell chondrogenic differentiation and cartilage matrix reconstruction.(3)At present,small molecule drugs targeting the pathophysiological process of osteoarthritis to delay the progression of osteoarthritis are still in the experimental stage,but most of these small molecule drugs have shown the expected results in the experimental process,and there are no relevant studies to illustrate the efficacy of small molecule drugs in the treatment of osteoarthritis.(4)Small molecule drugs for the treatment of osteoarthritis have reached the expected experimental results in the basic experimental stage.Numerous studies have exhibited that small molecule drugs can target the suppression of specific proteins,cytokines,and signal transduction pathways that cause osteoarthritis,so as to treat osteoarthritis.Nevertheless,its safety and effectiveness still need to be identified by further basic and clinical studies.This process needs to be investigated and studied by more scholars.(5)At present,many scholars in and outside China have made contributions to the treatment of osteoarthritis.Compared with traditional treatment methods,small molecule drugs reveal better efficacy and safety in the basic experimental stage,and it is expected to become an emerging method for the treatment of osteoarthritis in the future to rid patients of pain.
5.Analysis of FBN1 gene mutations in six Chinese pedigrees affected with Marfan syndrome.
Xianhong DING ; Hongliang CHEN ; Yang LU ; Mengyi XU ; Bingjie HU ; Yicheng FANG ; Bo SHEN
Chinese Journal of Medical Genetics 2025;42(1):41-50
OBJECTIVE:
To determine the types of genetic variants in six Chinese pedigrees affected with Marfan syndrome (MFS) and analyze their clinical characteristics and molecular pathogenesis.
METHODS:
Six MFS pedigrees presented at the Taizhou Enze Medical Center (Group) between 2017 and 2022 were selected as the study subjects. Clinical data of pedigrees were retrospectively analyzed. Peripheral blood samples were collected from the probands and their family members for the extraction of genomic DNA. Whole exome sequencing (WES) was carried out. Candidate variants of the FBN1 gene were verified by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), pathogenicity of the candidate variants was assessed. AlphaFold3 and PyMOL software were used for homology modeling of the FBN1 protein and analysis of its three-dimensional structure and amino acid sequence conservation. This study was approved by the Medical Ethics Committee of Taizhou Enze Medical Center (Group) (Ethics No. 20231002).
RESULTS:
Cardiovascular system abnormalities were noted in all pedigrees, ocular abnormalities were present in pedigrees 2 and 5, skeletal system abnormalities were presented in pedigrees 1, and 4 to 6. FBN1 gene mutations were identified in all pedigrees, including c.1957_1958dupGT (p.Asp654fs), c.5014T>A (p.Cys1672Ser), c.8135delC (p.Pro2712fs), c.2302G>T (p.Glu768*), c.3473A>G (p.Glu1158Gly) and c.6169C>T (p.Arg2057*), with each involving a different exon. Four variants were rated as pathogenic, one as likely pathogenic, and one as variant of uncertain significance. Among these, c.5014T>A (p.Cys1672Ser), c.1957_1958dupGT (p.Asp654fs), c.8135delC (p.Pro2712fs), and c.2302G>T (p.Glu768*) were unreported previously. Bioinformatic analysis with SIFT and PolyPhen-2 predicted that the c.5014T>A (p.Cys1672Ser) and c.3473A>G (p.Glu1158Gly) variants were deleterious. Protein homologous sequence alignment analysis revealed that the four novel mutation sites are highly conserved across various species. Homology modeling of the FBN1 protein three-dimensional structure indicated that the six variant sites in the amino acid sequence are all close to hydrogen bonds and may alter the secondary and tertiary structures to varying degrees, thereby confirmed the relationship between the variants and MFS.
CONCLUSION
Four novel variants of the FBN1 gene have been discovered in this study, which has enriched the mutational and phenotypic spectrum of MFS and provided a basis for disease diagnosis and genetic counseling.
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle Aged
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Young Adult
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China
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East Asian People/genetics*
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Exome Sequencing
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Fibrillin-1/genetics*
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Marfan Syndrome/genetics*
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Mutation
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Pedigree
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Retrospective Studies
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Adipokines
6.Artificial intelligence-based automated assessment of coronary flow reserve from angiography and the impact of different vasodilators
Hongliang ZHANG ; Daixin DING ; Botao YANG ; Runguo WEI ; Miao CHU ; Yongjian WU ; Shengxian TU
Chinese Journal of Cardiology 2025;53(5):497-504
Objectives:To explore the feasibility of a coronary angiography-based method developed with artificial intelligence which was able to automatically and quickly calculate coronary volumetric blood flow and coronary flow reserve (CFR), and explore the differences in CFR after injection of different vasodilators.Methods:This was a observational study screening patients with suspected coronary artery disease who underwent coronary angiography From June to September 2022 in Fuwai Hospital, Chinese Academy of Medical Sciences. Patients without obstructive coronary artery disease in the left anterior descending artery (<50% diameter stenosis by visual) and accompanied by coronary slow flow phenomenon (Thrombolysis in Myocardial Infarction flow grade ≤2) were enrolled. According to pre-specified coronary angiography acquisition protocol, one angiographic image in optimal projection was acquired for each of the following five states: baseline when none of the vasodilators was injected (resting state), intracoronary injection of 200 μg nitroglycerin (nitroglycerin-induced hyperemia), intracoronary injection of 100 μg adenosine (adenosine-induced hyperemia), 5 minutes after cessation of adenosine injection (resting state 2), and intracoronary injection of 4 mg nicorandil (nicorandil-induced hyperemia). Coronary volumetric blood flow and CFR were assessed in a fully automatic manner at an independent core laboratory. One-way repeated measures ANOVA was used to detect the differences in coronary volumetric blood flow at five states and the differences in CFR after injection of different vasodilators.Results:A total of 21 eligible patients were included. The age was (62±9) years, and 5 (24%) were female. Coronary volumetric blood flow at five states and CFR after injection of different vasodilators were successfully calculated in all patients, with a feasibility of 100% (21/21) for CFR. Resting coronary volumetric blood flow was (80.6±12.4) ml/min. Using this as a reference, the volumetric blood flow increased to (167.7±30.5) ml/min under nitroglycerin-induced hyperemia (adjusted P<0.001), and remained at (171.5±23.1) ml/min under adenosine-induced hyperemia (adjusted P<0.001). The volumetric blood flow under resting state 2 was (83.8±15.6) ml/min, returning to baseline level (adjusted P=0.94). Under nicorandil-induced hyperemia, the coronary volumetric blood flow increased again to (182.9±28.3) ml/min (adjusted P<0.001). CFR was 2.09±0.29, 2.15±0.27, and 2.29±0.29 after injection of nitroglycerin, adenosine, and nicorandil, respectively( P=0.034). Using CFR after adenosine injection as a reference, CFR after nicorandil injection was higher (adjusted P=0.044). Using the coronary volumetric blood flow under resting state 2 as the baseline flow for CFR calculation, there was no statistically significant difference compared to the CFR calculated using the volumetric blood flow under resting state (all P>0.05). Conclusions:Preliminary findings confirm the high feasibility of rapid, automated assessment of coronary volumetric blood flow and CFR from a single angiographic projection, as well as good reproducibility in calculating baseline volumetric blood flow. In patients with coronary slow flow, the CFR after nicorandil injection is significantly higher than that after adenosine injection.
7.Artificial intelligence-based automated assessment of coronary flow reserve from angiography and the impact of different vasodilators
Hongliang ZHANG ; Daixin DING ; Botao YANG ; Runguo WEI ; Miao CHU ; Yongjian WU ; Shengxian TU
Chinese Journal of Cardiology 2025;53(5):497-504
Objectives:To explore the feasibility of a coronary angiography-based method developed with artificial intelligence which was able to automatically and quickly calculate coronary volumetric blood flow and coronary flow reserve (CFR), and explore the differences in CFR after injection of different vasodilators.Methods:This was a observational study screening patients with suspected coronary artery disease who underwent coronary angiography From June to September 2022 in Fuwai Hospital, Chinese Academy of Medical Sciences. Patients without obstructive coronary artery disease in the left anterior descending artery (<50% diameter stenosis by visual) and accompanied by coronary slow flow phenomenon (Thrombolysis in Myocardial Infarction flow grade ≤2) were enrolled. According to pre-specified coronary angiography acquisition protocol, one angiographic image in optimal projection was acquired for each of the following five states: baseline when none of the vasodilators was injected (resting state), intracoronary injection of 200 μg nitroglycerin (nitroglycerin-induced hyperemia), intracoronary injection of 100 μg adenosine (adenosine-induced hyperemia), 5 minutes after cessation of adenosine injection (resting state 2), and intracoronary injection of 4 mg nicorandil (nicorandil-induced hyperemia). Coronary volumetric blood flow and CFR were assessed in a fully automatic manner at an independent core laboratory. One-way repeated measures ANOVA was used to detect the differences in coronary volumetric blood flow at five states and the differences in CFR after injection of different vasodilators.Results:A total of 21 eligible patients were included. The age was (62±9) years, and 5 (24%) were female. Coronary volumetric blood flow at five states and CFR after injection of different vasodilators were successfully calculated in all patients, with a feasibility of 100% (21/21) for CFR. Resting coronary volumetric blood flow was (80.6±12.4) ml/min. Using this as a reference, the volumetric blood flow increased to (167.7±30.5) ml/min under nitroglycerin-induced hyperemia (adjusted P<0.001), and remained at (171.5±23.1) ml/min under adenosine-induced hyperemia (adjusted P<0.001). The volumetric blood flow under resting state 2 was (83.8±15.6) ml/min, returning to baseline level (adjusted P=0.94). Under nicorandil-induced hyperemia, the coronary volumetric blood flow increased again to (182.9±28.3) ml/min (adjusted P<0.001). CFR was 2.09±0.29, 2.15±0.27, and 2.29±0.29 after injection of nitroglycerin, adenosine, and nicorandil, respectively( P=0.034). Using CFR after adenosine injection as a reference, CFR after nicorandil injection was higher (adjusted P=0.044). Using the coronary volumetric blood flow under resting state 2 as the baseline flow for CFR calculation, there was no statistically significant difference compared to the CFR calculated using the volumetric blood flow under resting state (all P>0.05). Conclusions:Preliminary findings confirm the high feasibility of rapid, automated assessment of coronary volumetric blood flow and CFR from a single angiographic projection, as well as good reproducibility in calculating baseline volumetric blood flow. In patients with coronary slow flow, the CFR after nicorandil injection is significantly higher than that after adenosine injection.
8.Application of en-bloc Holmium laser enucleation of the prostate with an early apical mucosa dissection
Shenglei ZOU ; Hongliang SHEN ; Zhu DING ; Meiyuan CHEN ; Wenhui LIU
International Journal of Surgery 2024;51(2):108-114
Objective:To investigate the efficacy and safety of en-bloc Holmium laser enucleation of the prostate (HoLEP) with an early apical mucosa dissection technique for the treatment of benign prostate hyperplasia (BPH).Methods:The clinical data of 215 patients treated with HoLEP for BPH from January 2020 to January 2023 in the Department of Urology, Beijing Friendship Hospital, Capital Medical University were retrospectively analyzed. According to different treatment methods, the patients were divided into study group ( n=112) and control group ( n=103). Patients in the study group were treated by the en-bloc HoLEP with an early apical mucosa dissection technique, while patients in the control group were treated by the classical two or three-lobes HoLEP. The primary endpoints included the rates of urinary incontinence at 1-month, 3-month, and 6-month after surgery in two groups of patients. The secondary endpoints included operative time, hemoglobin decrease, dissected prostate weight, postoperative indwelling catheter time, postoperative hospital stay, and international prostate symptom score (IPSS), quality of life (QoL), Qmax, and postvoid residual urine (PVR) at 3-month and 6-month after surgery. The measurement data were tested by Shapiro-Wilk normality test. The normal distribution of the measurement data were expressed as mean ± standard deviation ( ± s), and independent sample t-test was used for comparison between two groups. Measurement data of skewness distribution were expressed as median (interquartile distance) [ M( Q1, Q3)], and Wilcoxon or Mann-Whitney U test were used for comparison between two groups. The count data in the two groups were compared by the Chi-square test. Results:The incidence of urinary incontinence in the study group was 9.0% (10/112) and 3.6% (4/112) at 1-month and 3-month after surgery, which was significantly lower than those in the control group [18.5% (19/103) and 11.7% (12/103)], and the differences were statistically significant ( P< 0.05). Urinary incontinence in two groups recovered completely 6-month after surgery. The operation time of the study group was (68.74±23.71) min, which was lower than that of the control group [(88.04±25.43) min], and the difference was statistically significant ( P<0.05). There were no significant differences in hemoglobin decrease, dissected prostate weight, postoperative indwelling catheter time, postoperative hospital stay in the two groups ( P> 0.05). The IPSS, QoL, Qmax and PVR of the two groups were significantly improved at 3-month and 6-month after surgery ( P< 0.05), but there was no significant difference between the two groups ( P> 0.05). Conclusion:En-bloc HoLEP with an early apical mucosa dissection technique is safe and reliable in treating BPH, and has advantages over classic HoLEP in terms of short-term urinary continence rates, shortening operation time.
9.Visual analysis of molecular and cellular biology of thyroid cancer based on VOSviewer
Peisen DING ; Siyu LIU ; Zhilei XING ; Xiaomeng YU ; Jiahui SONG ; Yushan CUI ; Hongliang LIU
Tianjin Medical Journal 2024;52(9):985-990
Objective To understand the research status and development trend in the field of molecular and cell biology of thyroid cancer.Methods Relevant literature published in the field of molecular and cell biology of thyroid cancer from January 1,2013 to December 31,2022 was obtained in the web of science core collection(WoSCC)according to the search conditions,and bibliometric and visual analysis were performed using the bibliometric software VOSviewer and Excel.Results A total of 1 627 literatures were included.Among them,113 papers were published in 2013,and 214 were published in 2022.The annual number of publications was on the rise.There were 9 274 authors in total,of whom 6 published no less than 10 literatures.There were a total of 2 042 institutions,of which the top 10 institutions were mostly Chinese universities.There were 68 countries in total,and the largest number of publications was China,followed by the United States.There were 513 journals in total,and the top 10 journals with the largest number of literatures were mainly in the field of oncology,followed by the field of endocrinology and metabolism.A total of 62 563 references from 5 887 journals were cited.The most co-cited journal was Journal of Biological Chemistry(1 608 times),and the most co-cited references was Molecular Pathogenesis and Mechanisms of Thyroid Cancer(89 times).Conclusion The field of molecular and cell biology of thyroid cancer is currently developing steadily.Ferroptosis,glycosylation,telomerase reverse transcriptase and oxidative stress are the research frontiers in this field.
10.Analysis of short-term efficacy of perioperative fecal microbiota transplantation combined with nutritional support in patients with radiation-induced enteritis complicated by intestinal obstruction
Jiaqu CUI ; Hongliang TIAN ; Xujie WANG ; Le WANG ; Yunkun LIU ; Chen YE ; Liangfu DING ; Ning LI ; Qiyi CHEN
Chinese Journal of Gastrointestinal Surgery 2023;26(10):955-962
Objective:To explore the short-term efficacy of perioperative fecal microbiota transplantation combined with nutritional support in patients with radiation-induced enteritis complicated by intestinal obstruction.Methods:The cohort of this prospective cohort study comprised 45 patients (nine men and 36 women) with radiation-induced enteritis complicated by intestinal obstruction admitted to Shanghai Tenth People's Hospital Affiliated to Tongji University from January 2022 to October 2022. The median age was 53 (42–65) years. Thirty-five of the patients had gynecological tumors and 10 colorectal malignancies. The patients were randomly allocated to a fecal microbiota transplantation group of 20 patients who underwent fecal microbiota transplantation starting 2 weeks before surgery for 6 days, in addition to receiving conventional perioperative treatment, and a conventional treatment group of 25 patients who only received nutritional support during the perioperative period. There were no significant differences in baseline characteristics (sex, age, preoperative nutritional indices, and surgical procedure) between the two groups (all P>0.05). Postoperative recovery (time to passing flatus or a bowel movement, length of stay) and complications were compared between the two groups. Postoperative complications within 30 days after surgery classified in accordance with the international Clavien–Dindo classification of surgical complications (I–V) were statistically analyzed. Improvement in gastrointestinal symptoms, namely abdominal pain, distension, diarrhea, and rectal bleeding) and gastrointestinal quality of life scores (which include 36 problems rated 0–144 points related to physical, psychological, social activities and family life; the lower the score, the more severe the symptoms) were compared between the two groups. Nutritional recovery was assessed by body mass, body mass index, total protein, albumin, prealbumin, and hemoglobin. Results:Compared with the conventional treatment group, the postoperative hospital stay was shorter in the fecal microbiota transplantation group (8.0±4.3 days vs. 11.2±5.4 days, t=2.157, P=0.037) and the time to passage of flatus or having a bowel movement was earlier (2.2±3.2 days vs. 3.9±2.3 days, t=2.072, P=0.044). There were 26 postoperative complications in the fecal microbiota transplantation group and 59 in the conventional treatment group. There were 20 and 36 Grade I to II complications and no and three Grade III to V complications in the transplantation and conventional treatment group, respectively. The overall grade of complication did not differ significantly between the two groups ( P=0.544). However, the incidence of postoperative intestinal inflammatory obstruction was lower in the fecal microbiota transplantation than the conventional treatment group (10.0% [2/20] vs. 40.0% [10/25], P=0.040). One patient in the conventional treatment group died. This patient had complete intestinal obstruction complicated by severe malnutrition preoperatively, and an intestinal fistula complicated by abdominal infection postoperatively, and died despite active treatment. Nineteen and 23 patients in the transplantation and conventional treatment group, respectively, attended for follow-up 1 month after surgery; 19 and 21, respectively, attended for follow-up 3 months after surgery, and 17 and 20, respectively, attended for follow-up 6 months after surgery. There were no significant differences between the two groups in abdominal pain or rectal bleeding 1, 3, or 6 months after surgery (all P>0.05). One month after surgery, the incidence of abdominal distension and diarrhea was lower in the fecal microbiota transplantation than in the conventional treatment group (3/19 vs. 48.0% [11/23], P=0.048; 3/19 vs. 52.2% [12/23], P=0.023). However, at the 3 and 6 month follow-ups the incidence of abdominal distension and diarrhea had gradually decreased in both groups and the differences between the groups were not statistically significant ( P>0.05 for all). Scores for gastrointestinal quality of life improved significantly in both treatment groups compared with preoperative values ( F=71.250, P<0.001; F=79.130, P<0.001, respectively). Scores for gastrointestinal quality of life were higher in the fecal microbiota transplantation than the conventional treatment group at all follow-up time points ( P<0.05). One-way ANOVA showed that body mass, body mass index, and total protein, albumin and hemoglobin concentrations improved in both groups compared with preoperative values (all P<0.05). Prealbumin concentration improved significantly in the transplantation ( F=5.514, P=0.002), but not in the conventional, group ( F=1.535, P=0.211). The improvements in body mass, body mass index, total protein, and albumin were better in the fecal microbiota transplantation than conventional treatment group at 3 and 6 months of follow-up (all P<0.05). Conclusion:Perioperative fecal microbiota transplantation combined with nutritional support is effective in improving early postoperative nutritional status and quality of life in patients with radiation-induced enteritis complicated by intestinal obstruction.

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