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.Assessment of ochratoxin A exposure in the diets of pregnant women in Shanghai
Kailin LI ; Renjie QI ; Hua CAI ; Xia SONG ; Jingjin YANG ; Danping QIU ; Zhenni ZHU ; Yi HE ; Baozhang LUO ; Hong LIU
Shanghai Journal of Preventive Medicine 2026;38(3):181-186
ObjectiveTo investigate the contamination status of ochratoxin A (OTA) in commercially available food products in Shanghai, and to assess OTA exposure levels and the associated non-carcinogenic and carcinogenic risks among pregnant women by integrating dietary consumption data of this population. MethodsThe levels of OTA contamination in 1 520 food samples collected in Shanghai from 2022 to 2023 were determined using liquid chromatography-tandem mass spectrometry. An exposure assessment model was developed based on the dietary consumption levels of pregnant women from the 2016‒2017 Shanghai Pregnant Women Dietary Monitoring Survey to calculate the estimated daily intake (EDI) of OTA, the margin of exposure for non-carcinogenic toxicity (MOE1), and the margin of exposure for carcinogenic toxicity (MOE2). An MOE1 greater than 200 and an MOE2 greater than 10 000 indicate that the non-carcinogenic toxicity and carcinogenic toxicity resulting from exposure are negligible, respectively. For samples with OTA contamination levels below the limit of detection (LOD), which accounted for more than 80% of the samples, the OTA levels were assigned values of 0 and LOD, respectively, for subsequent calculations. ResultsThe detection rates of OTA in cereals, nuts, dried fruits, and alcohol samples collected in 2022 were 2.03%, 0, 0, and 0, respectively. The OTA detection rates in cereals, nuts, dried fruits, beans, and alcohol samples collected in 2023 were 2.50%, 0.39%, 2.47%, 1.67%, and 13.33%, respectively. For pregnant women in Shanghai in 2022, simulation results indicated that when assigning a value of 0 and the LOD, theP50 values of EDI for dietary OTA exposure were 0.05 and 0.72 ng·(kg·d)-1, respectively, and the P95 values of EDI for dietary OTA exposure were 0.25 and 2.40 ng·(kg·d)-1, respectively. For pregnant women in Shanghai in 2023, the P50 values of EDI for dietary OTA exposure were 0.04 and 1.00 ng·(kg·d)-1, respectively, and the P95 values of EDI for dietary OTA exposure were 0.23 and 2.67 ng·(kg·d)-1, respectively, both substantially below the tolerable daily intake (TDI) for OTA [17 ng·(kg·d)-1]. The EDI for dietary OTA exposure in 100.0% of Shanghai pregnant women was lower than the TDI, indicating an overall low level of dietary OTA exposure among this population. For 100.0% of pregnant women, the MOE₁ for dietary OTA exposure exceeded 200. When assigned a value of 0, the MOE₂ for 100.0% of pregnant women in both 2022 and 2023 exceeded10 000. When assigned the LOD value, 72.3% and 81.8% of pregnant women in 2022 and 2023, respectively, had an MOE₂ exceeding 10 000. ConclusionFrom 2022 to 2023, samples of cereals, nuts, dried fruits, beans, and alcohol sold in Shanghai exhibited varying degrees of OTA contamination. The overall EDI of OTA exposure among pregnant women in Shanghai remained at a low level. The non-carcinogenic and carcinogenic risks associated with OTA exposure were generally low and at controllable levels.
3.Analysis and prevention strategies for abnormal blood waste events in blood collection and supply processes
Kaiqiang LIU ; Huayou DAI ; Minyu HUA ; Tingting HU ; Weifei QIN ; Jixia ZHOU ; Xiaojing LIU ; Huaying CAI ; Chenghui LUO ; Shoubing ZHU ; Yanhua SHI ; Xi DENG ; Xia HUANG
Chinese Journal of Blood Transfusion 2026;39(8):1061-1066
Objective: To analyze the characteristics and key risk factors of abnormal blood disposal throughout the 2024-2025 blood collection and supply process based on nationwide multi-site monitoring data, develop a comprehensive prevention and control strategy across the entire chain, reduce preventable blood waste, and ensure clinical blood safety. Methods: According to the Guidelines for Haemovigilance (T/CSBT 001-2026), we extracted 74 cases of abnormal blood disposal events reported by the China Blood Transfusion Association′s Blood Safety Monitoring System from January 1 2024, to December 31 2025, and conducted descriptive statistical analysis on the distribution of events, types of deviations, root causes, and classifications of disposal manifestations. Results: A total of 664 adverse events related to blood collection and supply were reported over two years, with 74 cases involving discarded abnormal blood units, accounting for 11.1% of the total. Among these, blood component preparation (40.5%) and blood collection (37.8%) remained traditional high-risk stages. The proportion of blood waste occurring during storage, distribution, and transportation increased from 7.7% in 2024 to 34.3% in 2025. Deviations from standard operating procedures (SOP) by personnel were the primary cause, accounting for 74.3% of cases. Discarded blood units were categorized into four types: compromised closed blood bag systems (40 cases), mainly due to inadequate heat sealing, physical damage, or dropped bags; blood out of the cold chain (12 cases), primarily resulting from blood being left at work sites; imbalanced proportion of preservation solution (10 cases), mostly caused by blood collection volumes exceeding the standard capacity of blood bags; and other causes (12 cases). Conclusion: Human operational errors are the core cause of abnormal blood waste. The collection and preparation stages have long been at high-risk, and the risks in the storage and transportation stages have been increasing year by year. We should focus on standardizing personnel management, improving specialized operation norms such as heat sealing, transportation, and storage, establishing a full-process intelligent cold chain monitoring and multi-node visual verification mechanism, and systematically reducing the occurrence rate of abnormal blood waste through a closed-loop quality intervention system, thereby improving the utilization efficiency of voluntary blood donation resources.
4.Pharmacokinetics and Bioequivalence Study of Zidovudine and Lamivudine Tablets in Chinese Healthy Subjects
Haiyun ZHOU ; Yuming XIA ; Chenlin SHEN ; Lin CAI ; Jiatao LIU
Herald of Medicine 2025;44(4):516-522
Objective To study the pharmacokinetic profile of zidovudine and lamivudine tablets(ZL)in Chinese healthy subjects and to evaluate its bioequivalence and safety.Methods A randomized,open,single-dose,two-sequence,four-cycle and fully replicated crossover bioequivalence trial was conducted in 32 healthy subjects both fasting and postprandial,and two preparations of ZL tablets were administered orally in each cycle,with a washout period of 5 days.The concentrations of zidovudine and lamivudine in plasma were determined using high performance liquid chromatography-tandem mass spectrometry.The pharmacokinetic evaluation index parameters were statistically analyzed using Phoenix WinNonlin version 8.1 data statistical software to evaluate bioequivalence.Results The Cmax of zidovudine under fasting and postprandial conditions between ZL and the reference drugs after a single dose were(3 782.499±1 921.649)vs.(3 543.164±1 946.076)ng·mL-1 and(1 585.827±914.246)vs.(1 667.595±862.945)ng·mL-1,respectively.And the AUC0-t for fasting and postprandial conditions of zidovudine was(3 177.091±819.538)vs.(3 071.375±972.145)h·ng·mL-1 and(2 437.999±478.147)vs.(2 402.725±477.792)h·ng·mL-1,respectively;while the AUC0-∞ were(3 225.674±825.131)vs.(3 093.448±972.340)h·ng·mL-1and(2 464.310±480.790)vs.(2 427.693±477.933)h·ng·mL-1,respectively.The Cmax of a single dose of lamivudine under fasting and postprandial conditions between ZL and the reference drugs were(1 923.329±490.572)vs.(1 830.570±476.947)ng·mL-1 and(1 922.711±589.130)vs.(1 881.857±527.577)ng·mL-1,respectively.The AUC0-t for preprandial and postprandial lamivudine was(7 598.265±1 376.774)vs.(7 283.422±1 356.146)h·ng·mL-1 and(7 554.169±958.379)vs.(7 329.376±924.075)h·ng·mL-1,respectively,whereas the AUC0-∞ were(7 734.038±1 326.907)vs.(7 405.088±1 340.036)h·ng·mL-1 and(7 660.916±958.694)vs.(7 435.102±930.448)h·ng·mL-1,in fasting and fed tests,the 90%confidence intervals(CI)of the geometric mean ratios of the main pharmacokinetic parameters between test and reference preparations were all within the range of 80%-125%,respectively.A total of 37 adverse events occurred during the trial period,including 21 in the fasting group and 16 in the postprandial group,and no serious adverse events occurred.Conclusion The test formulations of zidovudine and lamivudine tablets were bioequivalent and well tolerated in healthy Chinese subjects under fasting and fed conditions compared to the reference tablets.
5.Inspiratory muscle training for weaning outcomes in patients with weaning failure:a systematic review
Qian CAI ; Xi ZHANG ; Hairong SU ; Na LIU ; Ying HUANG ; Jiqiang LI ; Jin'gen XIA ; Decai ZHENG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(3):306-313
Objective To systematically evaluate the effect of inspiratory muscle training(IMT)on weaning outcomes in patients with weaning failure.Methods Literatures in Chinese and English were retrieved from databases such as PubMed,Cochrane Library,Web of Science,Embase,CNKI,VIP,Wanfang data and CBM for researches on the effect of IMT in mechanical ventila-tion weaning failure,from the inception of the databases to October 22,2024.The methodological quality of the researches was evaluated with PEDro scale,and data were extracted for a systematic review.Results Nine randomized controlled trials were included,published between 2011 and 2023,from Brazil,China,the United States,Iran and Australia,with a total of 499 patients.The scores of the PEDro scale ranged five to eight.The population included patients with prolonged weaning,difficult weaning and tracheostomy.The IMT methods included threshold load training and tapered flow resistance training.The training intensity was 30%to 80%of maximal inspiratory pressure(MIP),and some researches did not set the training intensity based on MIP.The pro-gression of intensity varied widely across researches.The intervention frequency ranged from five to 30 breaths per set,with at least one minute rest between sets,two to six sets per session,one to two sessions per day,and five to seven days per week.The duration of the intervention ranged from successful weaning,one week after weaning,extubation,or four days to eight weeks.Regarding the efficacy of the intervention,IMT was not benefi-cial for the duration of mechanical ventilation and intensive care unit(ICU)length of stay on weaning failure pa-tients.However,the effect of IMT on weaning successful rates,duration of weaning,MIP and mortality was in-consistent.Conclusion IMT can not improve the duration of mechanical ventilation and ICU length of stay for weaning failure pa-tients,and there is still debate regarding its effect on successful rate of weaning,duration of weaning,MIP and mortality.
6.The research progress of implantable cardiac monitor in the diagnosis and treatment of cardiovascular diseases
Xing-xia YANG ; Xia-xia HUANG ; Ting LIU ; Xiao-gang WANG ; Kai-shuai ZHANG ; Xiao-qing CAI
Chinese Journal of Interventional Cardiology 2025;33(6):353-357
An implantable cardiac monitor(ICM)is a subcutaneous electronic device for recording and remotely transmitting electrocardiographic events.New-generation ICM,like the Reveal LINQ,have extended arrhythmia monitoring duration and improved diagnostic yield through miniaturization,large storage capacity,and easy implantation.They provide comprehensive monitoring data for cardiovascular disease diagnosis and treatment,optimize individualized treatment plans,and enhance patient prognosis.In recent years,research on ICM in cardiovascular fields has deepened,and their clinical application scope has expanded.They show significant advantages and unique value and are widely used in early cardiovascular disease diagnosis and prognostic management.In the future,ICM are expected to play a bigger role in boosting diagnostic and prognostic capabilities for cardiovascular disease patients,offering stronger support for early disease detection,accurate diagnosis,and effective management.
7.Pharmaceutical Care for Anti-infective Therapy in Critically Ill Patients Undergoing Continuous Renal Replacement Therapy
Hua LIU ; Lifen LI ; Changjie CAI ; Jiahui LIN ; Jie PAN ; Yanzhe XIA
Herald of Medicine 2025;44(9):1508-1511
Objective To explore the pharmaceutical care clinical pharmacists provide for anti-infective therapy in patients undergoing continuous renal replacement therapy(CRRT)after lung transplantation.Methods The clinical pharmacist utilized a limited sampling strategy and participated in the entire anti-infective treatment process for an adult lung transplant recipient based on pharmacokinetic monitoring results.The CRRT duration was flexibly adjusted,the dosing regimen was optimized,and adverse drug reactions were monitored.Result The clinical pharmacist assisted the physician in optimizing the polymyxin B anti-infective therapy post-transplantation,leading to successful infection control and patient discharge.Conclusion Clinical pharmacists can conduct real-time drug concentration monitoring in lung transplant patients based on pharmacokinetic characteristics,develop individualized dosing regimens,and improve medication safety and efficacy during anti-infective therapy.
8.Inspiratory muscle training for weaning outcomes in patients with weaning failure:a systematic review
Qian CAI ; Xi ZHANG ; Hairong SU ; Na LIU ; Ying HUANG ; Jiqiang LI ; Jin'gen XIA ; Decai ZHENG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(3):306-313
Objective To systematically evaluate the effect of inspiratory muscle training(IMT)on weaning outcomes in patients with weaning failure.Methods Literatures in Chinese and English were retrieved from databases such as PubMed,Cochrane Library,Web of Science,Embase,CNKI,VIP,Wanfang data and CBM for researches on the effect of IMT in mechanical ventila-tion weaning failure,from the inception of the databases to October 22,2024.The methodological quality of the researches was evaluated with PEDro scale,and data were extracted for a systematic review.Results Nine randomized controlled trials were included,published between 2011 and 2023,from Brazil,China,the United States,Iran and Australia,with a total of 499 patients.The scores of the PEDro scale ranged five to eight.The population included patients with prolonged weaning,difficult weaning and tracheostomy.The IMT methods included threshold load training and tapered flow resistance training.The training intensity was 30%to 80%of maximal inspiratory pressure(MIP),and some researches did not set the training intensity based on MIP.The pro-gression of intensity varied widely across researches.The intervention frequency ranged from five to 30 breaths per set,with at least one minute rest between sets,two to six sets per session,one to two sessions per day,and five to seven days per week.The duration of the intervention ranged from successful weaning,one week after weaning,extubation,or four days to eight weeks.Regarding the efficacy of the intervention,IMT was not benefi-cial for the duration of mechanical ventilation and intensive care unit(ICU)length of stay on weaning failure pa-tients.However,the effect of IMT on weaning successful rates,duration of weaning,MIP and mortality was in-consistent.Conclusion IMT can not improve the duration of mechanical ventilation and ICU length of stay for weaning failure pa-tients,and there is still debate regarding its effect on successful rate of weaning,duration of weaning,MIP and mortality.
9.Prenatal ultrasound diagnosis of fetal hypoplastic left heart syndrome with left ventricular enlargement:a case report
Chen ZHU ; Fan-gui ZHAO ; Ying-liu YAN ; Cai-xia LEI ; Ting YU ; Chen-yan ZHAO ; Ru LIN ; Yun-yun REN
Fudan University Journal of Medical Sciences 2025;52(1):143-146
The pregnant woman was 30 years old,G2P0.This singleton pregnancy at 22 weeks of gestation was screened for second-trimester ultrasound malformations,suggesting fetal aortic valve atresia,aortic stenosis with reverse blood flow,mitral valve atresia,and markedly enlarged left ventricle,which was considered for the diagnosis of hypoplastic left heart syndrome(HLHS).The pregnancy was terminated at our hospital and subsequently underwent genetic testing with results of heterozygous variants in the NOTCH1 gene,which can cause aortic valve disease type 1.The findings of the fetal autopsy were aortic valve atresia,mitral valve widening and thickening,and left ventricular enlargement with myocardial infarction.This report focuses on the ultrasound characteristics of HLHS with left ventricular enlargement and its hemodynamic changes in order to improve clinicians'understanding of the progressive changes in the disease phenotype of HLHS.
10.Short-term efficacy of a 3D printed microporous titanium prosthesis in the treatment of large segmental tibial defects
Yongqing XU ; Xinyu FAN ; Teng WANG ; Shaoquan PU ; Xingbo CAI ; Wei LIN ; Xi YANG ; Xia LI ; Jian SHI ; Yipeng WU ; Jian LI ; Min LIU
Chinese Journal of Orthopaedic Trauma 2025;27(6):529-535
Objective:To investigate the short-term clinical efficacy of implantation with a 3D-printed microporous titanium prosthesis in the treatment of large segmental infectious tibial defects.Methods:A retrospective analysis was conducted of the electronic medical records of the 47 patients with large segmental tibial defects who had been treated with 3D-printed microporous titanium prostheses at Department of Orthopaedics, 920th Hospital of Joint Logistics Support Force from January 2019 to February 2024. The cohort included 36 males and 11 females, with an age of (46.2±11.8) years and a mean bone defect length of 12.3 (8.0, 16.8) cm. In the 19 patients complicated with soft tissue defects, the area of soft tissue defects ranged from 10.0 cm × 6.0 cm to 33.0 cm × 10.0 cm. For the 28 patients without soft tissue defects at the lower leg, the bone defects were filled with vancomycin-loaded calcium sulfate bone cement at the first stage; for the 19 patients complicated with soft tissue defects, the soft tissue defects at the lower limb were repaired using an anterolateral thigh flap with vascular anastomosis at the same time when bone defects were filled with vancomycin-loaded calcium sulfate bone cement at the first stage. After infection control at 2 to 8 months after surgery, individualized 3D-printed microporous titanium prostheses were implanted at the second stage to reconstruct the bone defects. Postoperative observations included the patients' first standing time, crutch walking time, full weight-bearing time, osseointegration of the tibial fracture and the prosthesis, and complications during follow-up.Results:The follow-up period for the 47 patients was (34.7±14.3) months. The first standing time was (2.2±0.6) months, crutch walking time (3.8±1.1) months, and full weight-bearing time (5.3±1.2) for this cohort. The evaluation by the Paley's bone healing score resulted in 25 excellent cases, 18 good cases, 1 medium case, and 3 poor cases, giving an excellent and good rate of 91.5% (43/47). One year after operation, the X-ray films showed that the tibial fractures and prostheses were well integrated in the 43 patients. Two patients developed recurrent tibial infection which was responded to replacement of the vancomycin-loaded calcium sulfate spacer. The fixation screws for tibial prosthesis were broken in one patient, but no recurrence of infection was observed after revision. The overall incidence of complications was 6.4% (3/47).Conclusion:In the treatment of large segmental infectious tibial defects, by facilitating rapid functional recovery and ensuring a low incidence of complications, implantation with a 3D-printed microporous titanium prosthesis demonstrates fine short-term clinical efficacy.

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