1.Research on The Genealogical Inference Efficiency of High-density SNPs
Jing LI ; Yi-Jie SUN ; Wen-Ting ZHAO ; Zi-Chen TANG ; Jing LIU ; Cai-Xia LI
Progress in Biochemistry and Biophysics 2026;53(3):740-753
ObjectiveThis study aims to explore the potential of different orders of magnitude single-nucleotide polymorphism (SNP) locus combinations for predicting distant kinship relationships. A high-density SNP locus set was constructed, and a comprehensive assessment of its inference capability was conducted. MethodsFirstly, we selected three commercial chip panels, CGA (Chinese genotyping array, Illumina), GSA (Global screening array, Illumina), Affy (23MF_V2 high-density SNP array, Affymetrix) and merged them after quality control, forming a high-density SNP locus panel(1 180 k). Secondly, we selected 161 samples and collected their peripheral blood samples by using whole-genome sequencing technology. Within this sample population, the levels of kinship relationships fully covered the range from level 1 to level 9, and the number of kinship pairs at each level was consistently maintained at over 50 pairs. From 161 samples data of whole-genome sequencing, the 1 180 k locus set was extracted, which is referred to as the high-density SNP locus set in the following text. The kinship inference was conducted using the identity-by-descent (IBD) algorithm with the selected optimal parameters. To comprehensively evaluate the performance of the high-density SNP locus set in kinship inference, we compared it with the three commercial chip panels, the intersection of these three chip loci, and the control sets constructed by randomly reducing the number of the high-density SNP locus set. Based on the changes in the IBD lengths, as well as the dynamic trends in prediction accuracy, we conducted a scientific assessment of the kinship inference capability of the high-density SNP locus set. ResultsAfter screening, a set of 1 184 334 autosomal SNPs was obtained. During the process of screening the optimal IBD length threshold, the result revealed that 0 cM, 1 cM, and 2 cM all demonstrated good applicability. However, to avoid the issue of a large amount of redundant information caused by setting a too low IBD length threshold, this study ultimately selected 2 cM as the optimal threshold. Compared with the average results of three chip panels, the high-density SNP locus set increased the total IBD length and the average IBD length across levels 1-9; the accuracy of the confidence interval for level 8 was 70.97%, which represented a 3.50% improvement; the average confidence interval accuracy for levels 1-8 was 91.39%, representing a 1.00% increase; and the false negative rates at levels 8 and 9 were reduced by 2.42% and 6.76%, respectively. The system efficacy of the high-density SNP locus set for kinship inference of first to eighth degree relationships reached 98.91%. Through random reduction of the high-density SNP locus set results, it is found that increasing the number of SNPs with the panel, the detection efficiency of IBD length showed a significant upward trend. At the same time, the overall trend in the accuracy of kinship relationship prediction as well as the confidence interval accuracy also indicated that both metrics steadily increased with the addition of more loci. ConclusionThe results show that the high-density SNPs panel significantly enhances the efficacy of distant kinship inference, accurately covering kinship degrees, with the average confidence interval accuracy for first to eighth degree relationships stably above 90%. The study finds that increasing the number of SNPs panel can improve the ability to predict distant kinship.
2.Value of demographic factors in early identification of pediatric malignant vasovagal syncope in head-up tilt test
Shuo WANG ; Yuwen WANG ; Hong CAI ; Ping LIU ; Fang LI ; Chuan WEN ; Liqun LIU ; Runmei ZOU ; Cheng WANG
Clinical and Experimental Pediatrics 2026;69(4):353-361
Background:
Malignant vasovagal syncope (VVS) is characterized by cardiac arrest lasting more than 3 seconds during a syncope episode or head-up tilt test (HUTT). We aim to conduct a risk assessment for potential malignant VVS before the HUTT by using economic, simple and convenient demographic data, in order to prevent adverse outcomes for pediatric VVS.Purpose: To explore the correlation between demographic factors and pediatric malignant VVS, and verify the value of these factors in early risk assessment for malignant VVS before HUTT, so as to optimize test safety and reduce adverse events.
Methods:
We conducted a retrospective analysis of the clinical data of 3,734 children who were initially diagnosed with VVS due to unexplained syncope and presyncope. Finally, 122 children who met the diagnostic criteria for malignant VVS were included in the malignant VVS group, and 661 children who did not meet the criteria during the same period were matched as the control group. By analyzing demographic data and other factors, we attempted to clarify the association between these factors and malignant VVS.
Results:
Linear relationship: age and body mass index (BMI) have independent protective effects on malignant VVS. For every 1-year increase in age and every 1 kg/m2 increase in BMI, the risk of malignant VVS decreases by 12% and 9%, respectively. Nonlinear relationship: When the age is <12.9 years old, for every additional year of age, the risk of malignant VVS decreases by 20%. For ages 12.9 years and above, the efficacy is not significant. There is no significant nonlinear relationship between BMI and malignant VVS.
Conclusion
Age and BMI are independent protective factors for pediatric malignant VVS. Before the age of 12.9 years, the incidence of malignant VVS gradually decreases with the increase in age, and thereafter there is no significant impact.
3.Effects of Shaoyao Gancao Decoction on autophagy following post-ERCP pancreatitis in rats
Meng CHEN ; Gan CAI ; Biao GONG ; Xi-wen ZHANG ; Chan LÜ ; Tao LI ; Yong-hong HU ; Fu LI
Chinese Traditional Patent Medicine 2025;47(3):759-766
AIM To investigate the mechanism of Shaoyao Gancao Decoction in preventing meglumine diatrizoate-induced post-ERCP pancreatitis in rats through autophagy regulation.METHODS The rats were randomized into the normal group,the model group,the low-dose and high-dose Shaoyao Gancao Decoction(1.5,3.0 g/kg),and the indomethacin suppository group.A rat model of post-ERCP pancreatitis was induced by meglumine diatrizoate injection into the pancreatic duct under continuous pressure.The rats had their pancreatic tissues stained with HE to observe the pathological alterations,inflammatory cell infiltration,hemorrhage and necrosis;their serum levels of IL-1β,IL-6,IL-8,TNF-α,AMS,and IL-10 identified by ELISA;their autophagic vacuoles in pancreatic acinar cells observed by transmission electron microscopy;their pancreatic protein expressions of Beclin1,LC3B,p62,TRAF2 and p-JNK detected by IHC and Western blot;and their pancreatic mRNA expressions of Beclin1 and TRAF2 detected by RT-qPCR.RESULTS Compared with the model group,the high-dose Shaoyao Gancao Decoction group displayed no obvious hemorrhage;improvement in edema of acinar and interstitial cells;obviously less cellular inflammatory infiltration;substantially decreased serum levels of IL-1β,IL-6,TNF-α and AMS(P<0.05,P<0.01);drastically reduced amount of autophagosomes in acinar cells;and down-regulated expressions of autophagy-related proteins Beclin1,LC3,p62,TRAF2 and p-JNK(P<0.05,P<0.01).CONCLUSION Shaoyao Gancao Decoction can prevent post-ERCP pancreatitis by ameliorating pancreatic tissue injury,decreasing serum inflammatory response level,and interfering with abnormal autophagy of pancreatic acinar cells.Its molecular mechanism may involve inhibition of TRAF2 protein expression and modulation of p-JNK activation.
4.Butorphanol Combined with Esketamine for the Treatment of Remifentanil Induced Hyperalgesia after laparoscopic Gynecological Surgery:A Randomized Double-Blind Controlled Trial
Xian-cai LI ; Gui-wen ZHANG ; Yi JIANG
Progress in Modern Biomedicine 2025;25(10):1667-1675
Objective:To observe the effect of combine treatment of butorphanol combined with esketamine in patients with remifentanil induced hyperalgesia after laparoscopic gynecological surgery.Methods:Based on randomized double-blind controlled trial,120 patients undergoing laparoscopic gynecological surgery in our hospital from April 2023 to October 2024 were divided into control group 1(received esketamine treatment,n=40),control group 2(received butorphanol treatment,n=40),and study group(received butorphanol combined with esketamine treatment,n=40).The awakening time,extubation time,mean arterial pressure(MAP),heart rate(HR),visual pain analog scale(VAS)score,ramsay sedation score,and incidence of adverse reactions among three groups were compared.Results:The awakening time and extubation time in the study group were shorter than those in the control group 1 and control group 2(P<0.05).The MAP and HR in the study group were lower than those in the control group 1 and control group 2 at 30 minutes,60 minutes after extubation(P<0.05).The VAS scores in the study group were lower than those in the control group 1 and control group 2 at 30 minutes,60 minutes after extubation(P<0.05).The ramsay sedation scores in the study group were higher than those in the control group 1 and control group 2 at 30 minutes,60 minutes after extubation(P<0.05).There was no significant difference in the incidence of postoperative adverse reactions among the three groups(P>0.05).Conclusion:Butorphanol combined with esketamine can further alleviate remifentanil induced hyperalgesia after laparoscopic gynecological surgery,exert good sedative and analgesic effects,maintain hemodynamic stability,and have good safety.
5.Treatment of aneurysmal bone cyst in children by percutaneous injection of calcitonin and methylprednase
Yong LI ; Zhu WEN ; Wulan MAI ; Jun LEI ; Lin CAI ; Zhouming DENG
Journal of Clinical Surgery 2025;33(7):750-753
Objective To investigate the clinical effect of percutaneous injection of calcitonin and methylprednone in the treatment of aneurysmal bone cyst in children.Methods From June 2020 to March 2023,19 patients with aneurysmal bone cysts were admitted and all were treated with percutaneous puncture injection of calcitonin and methylprednisolone.After percutaneous puncture biopsy,200 iu of calcitonin and 120 mg of methylprednone were injected into the cyst of aneurysmal bone cyst.Compare the volume of the cyst cavity and the thinnest cortical bone thickness around the cyst cavity before and after the operation.All patients were followed up,while preoperative and postoperative tumor cavity and the thinnest peritumor cortical thickness were compared.Results 19 patients were followed up for an average of 16 months(12-52 months).Of the 19 patients,17 were effective,the effective rate was 89.5%,and no serious complications occurred in all cases.At the last follow-up,the volume of the tumor cavity was significantly lower than that before surgery[(37.05±21.17)cm3,(110.95±45.67)cm3],and the difference was statistically significant(P<0.05).The average thinnest cortical bone thickness around the tumor cavity was(0.71±0.37)mm before surgery and(1.87±0.60)mm after surgery.The difference was statistically significant(P<0.05).Conclusion Percutaneous injection of calcitonin and methylprednone in the treatment of aneurysmal bone cysts in children is minimally invasive,safe and effective.It can be used as the first-line treatment for aneurysmal bone cyst in children.
6.Signal mining and analysis of adverse events for lecanemab based on the FAERS database
Wen ZHANG ; Min LI ; Erping LIU ; Wenting TAO ; Rui CAI ; Weixian ZHOU
Chinese Journal of Pharmacoepidemiology 2025;34(2):166-174
Objective To mine the risk signals of adverse drug events(ADEs)related to lecanemab through the U.S.Food and Drug Adminstration Adverse Event Reporting System(FAERS)database,to provide a reference for the safe clinical use of lecanemab.Methods Data on adverse events related to lecanemab from the fourth quarter,2010 to the second quarter 2024 in the FAERS were collected.Potential ADE signals were mined using the reporting odds ratio(ROR)method,Medicines and Healthcare Products Regulatory Agency(MHRA)method,Bayesian confidence propagation neural network(BCPNN)method and multi-item gamma Poisson shrinker(MGPS)method.The top 30 ADEs in terms of report frequency and signal strength,as well as ADEs categorized by system organ class(SOC),were statistically analyzed.Results A total of 868 adverse event reports related to lecanemab were collected,involving 1,986 instances of ADEs with 38 related ADE identified,the proportion of serious ADEs was 23.39%,and 87.15%of ADEs occurred in the first 3 months after the initiation of the drug.The top 30 PT signals in reported cases were headache,chills,fatigue,effusion type amyloid-related imaging abnormalities(ARIA-E),hemorrhage-type amyloid-related imaging abnormalities(ARIA-H),and so on.The top 30 signals in terms of signal intensity mainly included ARIA-E,ARIA-H,brain fog,infusion-related reactions.ADEs related to nervous system diseases were the most common.Fifteen new suspected or serious ADEs not recorded in the instructions were discovered,such as brain fog,formication,status epilepticus.Conclusion Risk assessment of patients'medication should be conducted before clinical use of lecanemab,especially in the first 3 months of the medication period,focus should be placed on monitoring common ADEs,such as ARIA-E,ARIA-H,infusion-related reactions.Attention also needs to be paid to the newly discovered suspected ADEs,to ensure the patients'medication safety.
7.Treatment of aneurysmal bone cyst in children by percutaneous injection of calcitonin and methylprednase
Yong LI ; Zhu WEN ; Wulan MAI ; Jun LEI ; Lin CAI ; Zhouming DENG
Journal of Clinical Surgery 2025;33(7):750-753
Objective To investigate the clinical effect of percutaneous injection of calcitonin and methylprednone in the treatment of aneurysmal bone cyst in children.Methods From June 2020 to March 2023,19 patients with aneurysmal bone cysts were admitted and all were treated with percutaneous puncture injection of calcitonin and methylprednisolone.After percutaneous puncture biopsy,200 iu of calcitonin and 120 mg of methylprednone were injected into the cyst of aneurysmal bone cyst.Compare the volume of the cyst cavity and the thinnest cortical bone thickness around the cyst cavity before and after the operation.All patients were followed up,while preoperative and postoperative tumor cavity and the thinnest peritumor cortical thickness were compared.Results 19 patients were followed up for an average of 16 months(12-52 months).Of the 19 patients,17 were effective,the effective rate was 89.5%,and no serious complications occurred in all cases.At the last follow-up,the volume of the tumor cavity was significantly lower than that before surgery[(37.05±21.17)cm3,(110.95±45.67)cm3],and the difference was statistically significant(P<0.05).The average thinnest cortical bone thickness around the tumor cavity was(0.71±0.37)mm before surgery and(1.87±0.60)mm after surgery.The difference was statistically significant(P<0.05).Conclusion Percutaneous injection of calcitonin and methylprednone in the treatment of aneurysmal bone cysts in children is minimally invasive,safe and effective.It can be used as the first-line treatment for aneurysmal bone cyst in children.
8.Metabolomic alterations in preterm infants with bronchopulmonary dysplasia
Yan-Yan WU ; Qi-Qi BU ; Xin WANG ; Tao LI ; Hong-Yan WU ; Le KANG ; Ying-Yuan WANG ; Da-Peng LIU ; Jing GUO ; Cai-Jun WANG ; Wen-Qing KANG
Chinese Journal of Contemporary Pediatrics 2025;27(12):1475-1481
Objective To analyze the serum metabolomic changes of preterm infants with bronchopulmonary dysplasia(BPD)at postmenstrual age(PMA)36 weeks,screen potential biomarkers and associated metabolic pathways,and assess their relationship with short-term respiratory outcomes.Methods A retrospective case-control study was conducted.Infants with gestational age 28-32 weeks admitted to the Children's Hospital Affiliated to Zhengzhou University from January to December 2024 were included.Twenty infants with BPD and 20 gestational age-,birth weight-,and sex-matched non-BPD preterm infants were included.Serum collected at PMA 36 weeks was subjected to untargeted metabolomics analysis,and associations with short-term respiratory outcomes were analyzed.Results Thirteen potential biomarkers distinguishing BPD were identified(area under the curve>0.75,P<0.05).Eight biomarkers—including terephthalic acid,phosphatidylinositol,fumarate,and lysophosphatidic acid—were significantly upregulated(FC≥1.5),while five biomarkers,such as 7α-hydroxy-3-oxo-4-cholestenoate ester and phosphatidylcholine,were significantly downregulated(FC≤1/1.5).Pathway analysis indicated five pathways associated with BPD,including glycerophospholipid metabolism and phenylalanine metabolism.Dysregulation of glycerophospholipid and bile acid metabolism may affect adverse short-term respiratory outcomes in infants with BPD.Conclusions The 13 significantly different metabolites may serve as biomarkers for the diagnosis of BPD.Glycerophospholipid metabolism is associated with the occurrence of BPD and with adverse short-term respiratory outcomes.
9.Metabolomic alterations in preterm infants with bronchopulmonary dysplasia
Yan-Yan WU ; Qi-Qi BU ; Xin WANG ; Tao LI ; Hong-Yan WU ; Le KANG ; Ying-Yuan WANG ; Da-Peng LIU ; Jing GUO ; Cai-Jun WANG ; Wen-Qing KANG
Chinese Journal of Contemporary Pediatrics 2025;27(12):1475-1481
Objective To analyze the serum metabolomic changes of preterm infants with bronchopulmonary dysplasia(BPD)at postmenstrual age(PMA)36 weeks,screen potential biomarkers and associated metabolic pathways,and assess their relationship with short-term respiratory outcomes.Methods A retrospective case-control study was conducted.Infants with gestational age 28-32 weeks admitted to the Children's Hospital Affiliated to Zhengzhou University from January to December 2024 were included.Twenty infants with BPD and 20 gestational age-,birth weight-,and sex-matched non-BPD preterm infants were included.Serum collected at PMA 36 weeks was subjected to untargeted metabolomics analysis,and associations with short-term respiratory outcomes were analyzed.Results Thirteen potential biomarkers distinguishing BPD were identified(area under the curve>0.75,P<0.05).Eight biomarkers—including terephthalic acid,phosphatidylinositol,fumarate,and lysophosphatidic acid—were significantly upregulated(FC≥1.5),while five biomarkers,such as 7α-hydroxy-3-oxo-4-cholestenoate ester and phosphatidylcholine,were significantly downregulated(FC≤1/1.5).Pathway analysis indicated five pathways associated with BPD,including glycerophospholipid metabolism and phenylalanine metabolism.Dysregulation of glycerophospholipid and bile acid metabolism may affect adverse short-term respiratory outcomes in infants with BPD.Conclusions The 13 significantly different metabolites may serve as biomarkers for the diagnosis of BPD.Glycerophospholipid metabolism is associated with the occurrence of BPD and with adverse short-term respiratory outcomes.
10.Butorphanol Combined with Esketamine for the Treatment of Remifentanil Induced Hyperalgesia after laparoscopic Gynecological Surgery:A Randomized Double-Blind Controlled Trial
Xian-cai LI ; Gui-wen ZHANG ; Yi JIANG
Progress in Modern Biomedicine 2025;25(10):1667-1675
Objective:To observe the effect of combine treatment of butorphanol combined with esketamine in patients with remifentanil induced hyperalgesia after laparoscopic gynecological surgery.Methods:Based on randomized double-blind controlled trial,120 patients undergoing laparoscopic gynecological surgery in our hospital from April 2023 to October 2024 were divided into control group 1(received esketamine treatment,n=40),control group 2(received butorphanol treatment,n=40),and study group(received butorphanol combined with esketamine treatment,n=40).The awakening time,extubation time,mean arterial pressure(MAP),heart rate(HR),visual pain analog scale(VAS)score,ramsay sedation score,and incidence of adverse reactions among three groups were compared.Results:The awakening time and extubation time in the study group were shorter than those in the control group 1 and control group 2(P<0.05).The MAP and HR in the study group were lower than those in the control group 1 and control group 2 at 30 minutes,60 minutes after extubation(P<0.05).The VAS scores in the study group were lower than those in the control group 1 and control group 2 at 30 minutes,60 minutes after extubation(P<0.05).The ramsay sedation scores in the study group were higher than those in the control group 1 and control group 2 at 30 minutes,60 minutes after extubation(P<0.05).There was no significant difference in the incidence of postoperative adverse reactions among the three groups(P>0.05).Conclusion:Butorphanol combined with esketamine can further alleviate remifentanil induced hyperalgesia after laparoscopic gynecological surgery,exert good sedative and analgesic effects,maintain hemodynamic stability,and have good safety.

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