1.Dynamic changes in genetic mutations in myelodysplastic neoplasms with progressive disease and leukemic transformation
Xin YAN ; Haiyang CHEN ; Lian WANG ; Yulu TIAN ; Yan GU ; Na LIU ; Zheng GE
Chinese Journal of Hematology 2025;46(3):252-260
Objective:To investigate the key genetic mutations during the progressive disease (PD) /leukemic transformation (LT) course in MDS by analyzing the dynamic changes of genetic mutations in patients with myelodysplastic neoplasms (MDS) with or without PD/LT.Methods:This study enrolled 84 patients with sequential MDS from May 2019 to August 2023 at ZhongDa Hospital Southeast University and used the next generation sequencing to detect gene mutations. The dynamic changes of genetic mutations in patients with MDS with or without PD/LT were retrospectively analyzed.Results:①This study analyzed data from 84 patients diagnosed with MDS with a median age of 63 (range: 31-95) years and consisting of 51 males and 33 females. Participants were distributed to the PD cohort ( n=20), LT cohort ( n=13), and non-PD/LT cohort ( n=51). Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts than the non-PD/LT cohort at the first sequencing (1.6% vs. 0.4%, P=0.013). ②The most frequently mutated genes that were detected at first sequencing were ASXL1 ( n=21, 25.0%), TP53 ( n=17, 20.2%), TET2 ( n=12, 14.3%), DNMT3A ( n=11, 13.1%), and U2AF1 ( n=11, 13.1%). Further, patients from the PD/LT cohorts exhibited a higher median number of mutated genes than the non-PD/LT cohort (2 vs.1, P=0.014) at first sequencing. TET2 (27.3% vs. 5.9%, P=0.010), SETBP1 (15.2% vs.2.0%, P=0.033), and RUNX1 (18.2% vs. 2.0%, P=0.013) mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort. ③The most frequently detected acquired mutations (Ⅰ mutations) and clonally expanded mutations (Ⅱ mutations) were TP53 ( n=9, 10.7%), TET2 ( n=7, 8.3%), ASXL1 ( n=7, 8.3%), and RAS pathway ( n=7, 8.3%). Furthermore, patients from the PD/LT cohorts showed a higher median number of Ⅰ/Ⅱ genes than the non-PD/LT cohort (2 vs. 0, P<0.001), and Ⅰ/Ⅱ RAS pathway (21.2% vs. 0, P=0.001), TP53 (27.3% vs. 0, P<0.001), and TET2 (18.2% vs. 2.0%, P=0.013) mutations were enriched in PD/LT cohorts than in the non-PD/LT cohorts. ④Most of the TP53 mutations (9/12, 75.0%) in PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas all of the TP53 mutations in non-PD/LT cohort were clone-decrease mutations (Ⅲ mutations) (5/8, 62.5%) or clone-stable mutations (Ⅳ mutations) (3/8, 37.5%). Most of the RAS pathway mutations (7/8,87.5%) in the PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas only one patient in the non-PD/LT cohort demonstrated RAS pathway mutations, which belonged to Ⅳ mutations. Conclusion:Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts and a higher median number of mutations than the non-PD/LT cohort at first sequencing; TET2, SETBP1, and RUNX1 mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort at first sequencing. Patients from the PD/LT cohorts exhibited a higher number of Ⅰ/Ⅱ mutations than the non-PD/LT cohort. Further, Ⅰ/Ⅱ TP53, RAS pathway, and TET2 mutations were enriched in the PD/LT cohorts, and Ⅰ/Ⅱ TP53 and RAS pathway mutations may contribute to the PD/LT.
2.Application of digital design and manufacture to refabricate a removable partial denture:A case report
Min YAN ; Min WANG ; Yulu WU ; Yan LI ; Bo GAO
Journal of Practical Stomatology 2025;41(6):848-851
Complete dentures can be fabricated by cutting and grinding the resin in one step.It is worth trying to manufacture removable partial dentures through simulating this approach to minimize manual fabrication as much as possible.This article reports on a case where a digitally designed and milled removable partial denture was made from a cuttable resin.After a two-month postoperative follow-up,there was no significant pain or discomfort in the soft or hard tissues.This preliminary study suggests that this digital restoration plan could a-chieve good restoration results and can be further clinically promoted.
3.Relationship between lipid levels and cognitive decline:a 4-year community-based prospective cohort study
Ningwei HU ; Yulu YAN ; Shan WEI ; Liangjun DANG ; Jingyi WANG ; Jin WANG ; Qiumin QU ; Suhang SHANG
Journal of Xi'an Jiaotong University(Medical Sciences) 2025;46(5):740-748
Objective To investigate the relationship between baseline serum lipid levels and cognitive decline after a 4-year follow-up in a cohort of middle-aged and elderly people in rural Xi'an.Methods The data were collected from the cognitive impairment cohort of middle-aged and elderly people in rural areas of Xi'an,Shaanxi Province.The cohort selected the population ≥40 years old in two villages of Huyi District,Xi'an,as the research subjects.The baseline survey was completed from October 2014 to March 2015,and two follow-up visits were conducted in 2016 and 2018.The Mini-Mental State Examination(MMSE)was applied to assess the overall cognitive function.The MMSE score dropping between the 2014 and 2018(△MMSE)≥2 points were defined as cognitive decline.Baseline lipid levels[total cholesterol(TC),triglyceride(TG),high-density lipoprotein cholesterol(HDL-c),low-density lipoprotein cholesterol(LDL-c)]were converted into three classification data based on 25%quantile and 75%quantile[Q1(≤25%)vs.Q2-Q3(25%-75%)vs.Q4(≥75%)],and using the Q2-Q3 group as the reference group.The relationship between serum lipid levels and cognitive decline at baseline was analyzed by multivariate Logistic regression.Interaction effect analysis and subgroup analysis were made to investigate the interaction effect of age(<65 years vs.≥65 years)on the relationship between serum lipid and cognitive decline.Results There were 1 349 participants with complete baseline data,and 235(17.42%)were ≥65 years old at baseline;230 cases(17.05%)had cognitive decline.No significant association was found between TC,TG,LDL-c,HDL-c and cognitive decline in subgroups<65 years of age.In the subgroup ≥65 years of age,the Q1(≤4.37 mmol/L)group of TC was not significantly associated with the risk of cognitive decline compared with the Q2-Q3(4.37-5.61 mmol/L)group of TC,but the Q,(≥5.61 mmol/L)group of TC was significantly associated withan increased risk of cognitive decline(OR=2.519,95%CI:1.217-5.214,P=0.013).Age had an interactive effect on the relationship between the Q4 group of TC and cognitive decline(OR=2.202,95%CI:1.111-4.363,P=0.024).Compared with the Q2-Q3(1.03-2.01 mmol/L)group of TG,the Q,(≤ 1.03 mmol/L)group of TG was associated with a lower risk of cognitive decline(OR=0.318,95%CI:0.120-0.838,P=0.020).Age had an interactive effect on the relationship between the Q1 group of TG and cognitive decline(OR=0.344,95%CI:0.132-0.896,P=0.029).However,there was no significant correlation between the Q4(≥2.01 mmol/L)group of TG and the risk of cognitive decline.Compared with the Q2-Q3(2.70-3.81 mmol/L)group of LDL-c,the Q1(≤ 2.70 mmol/L)group of LDL-c was not significantly associated with the risk of cognitive decline,but the Q4(≥3.81 mmol/L)group of LDL-c had significant association with an increased risk of cognitive decline(OR=2.367,95%CI:1.143-4.900,P=0.020).Age had an interactive effect on the relationship between the Q4 group of LDL-c and cognitive decline(OR=2.237,95%CI:1.134-4.415,P=0.020).No significant association was found between HDL-c and cognitive decline.Conclusion No significant association was found between HDL-c and cognitive decline at baseline.The relationship of TC,TG and LDL-c with cognitive decline was affected by age.Only in participants over 65 years old,the risk of cognitive decline was higher in those with high baseline levels of TC and LDL-c.Those with low baseline serum TG levels had a lower risk of cognitive decline.
4.Application of digital design and manufacture to refabricate a removable partial denture:A case report
Min YAN ; Min WANG ; Yulu WU ; Yan LI ; Bo GAO
Journal of Practical Stomatology 2025;41(6):848-851
Complete dentures can be fabricated by cutting and grinding the resin in one step.It is worth trying to manufacture removable partial dentures through simulating this approach to minimize manual fabrication as much as possible.This article reports on a case where a digitally designed and milled removable partial denture was made from a cuttable resin.After a two-month postoperative follow-up,there was no significant pain or discomfort in the soft or hard tissues.This preliminary study suggests that this digital restoration plan could a-chieve good restoration results and can be further clinically promoted.
5.Relationship between lipid levels and cognitive decline:a 4-year community-based prospective cohort study
Ningwei HU ; Yulu YAN ; Shan WEI ; Liangjun DANG ; Jingyi WANG ; Jin WANG ; Qiumin QU ; Suhang SHANG
Journal of Xi'an Jiaotong University(Medical Sciences) 2025;46(5):740-748
Objective To investigate the relationship between baseline serum lipid levels and cognitive decline after a 4-year follow-up in a cohort of middle-aged and elderly people in rural Xi'an.Methods The data were collected from the cognitive impairment cohort of middle-aged and elderly people in rural areas of Xi'an,Shaanxi Province.The cohort selected the population ≥40 years old in two villages of Huyi District,Xi'an,as the research subjects.The baseline survey was completed from October 2014 to March 2015,and two follow-up visits were conducted in 2016 and 2018.The Mini-Mental State Examination(MMSE)was applied to assess the overall cognitive function.The MMSE score dropping between the 2014 and 2018(△MMSE)≥2 points were defined as cognitive decline.Baseline lipid levels[total cholesterol(TC),triglyceride(TG),high-density lipoprotein cholesterol(HDL-c),low-density lipoprotein cholesterol(LDL-c)]were converted into three classification data based on 25%quantile and 75%quantile[Q1(≤25%)vs.Q2-Q3(25%-75%)vs.Q4(≥75%)],and using the Q2-Q3 group as the reference group.The relationship between serum lipid levels and cognitive decline at baseline was analyzed by multivariate Logistic regression.Interaction effect analysis and subgroup analysis were made to investigate the interaction effect of age(<65 years vs.≥65 years)on the relationship between serum lipid and cognitive decline.Results There were 1 349 participants with complete baseline data,and 235(17.42%)were ≥65 years old at baseline;230 cases(17.05%)had cognitive decline.No significant association was found between TC,TG,LDL-c,HDL-c and cognitive decline in subgroups<65 years of age.In the subgroup ≥65 years of age,the Q1(≤4.37 mmol/L)group of TC was not significantly associated with the risk of cognitive decline compared with the Q2-Q3(4.37-5.61 mmol/L)group of TC,but the Q,(≥5.61 mmol/L)group of TC was significantly associated withan increased risk of cognitive decline(OR=2.519,95%CI:1.217-5.214,P=0.013).Age had an interactive effect on the relationship between the Q4 group of TC and cognitive decline(OR=2.202,95%CI:1.111-4.363,P=0.024).Compared with the Q2-Q3(1.03-2.01 mmol/L)group of TG,the Q,(≤ 1.03 mmol/L)group of TG was associated with a lower risk of cognitive decline(OR=0.318,95%CI:0.120-0.838,P=0.020).Age had an interactive effect on the relationship between the Q1 group of TG and cognitive decline(OR=0.344,95%CI:0.132-0.896,P=0.029).However,there was no significant correlation between the Q4(≥2.01 mmol/L)group of TG and the risk of cognitive decline.Compared with the Q2-Q3(2.70-3.81 mmol/L)group of LDL-c,the Q1(≤ 2.70 mmol/L)group of LDL-c was not significantly associated with the risk of cognitive decline,but the Q4(≥3.81 mmol/L)group of LDL-c had significant association with an increased risk of cognitive decline(OR=2.367,95%CI:1.143-4.900,P=0.020).Age had an interactive effect on the relationship between the Q4 group of LDL-c and cognitive decline(OR=2.237,95%CI:1.134-4.415,P=0.020).No significant association was found between HDL-c and cognitive decline.Conclusion No significant association was found between HDL-c and cognitive decline at baseline.The relationship of TC,TG and LDL-c with cognitive decline was affected by age.Only in participants over 65 years old,the risk of cognitive decline was higher in those with high baseline levels of TC and LDL-c.Those with low baseline serum TG levels had a lower risk of cognitive decline.
6.Dynamic changes in genetic mutations in myelodysplastic neoplasms with progressive disease and leukemic transformation
Xin YAN ; Haiyang CHEN ; Lian WANG ; Yulu TIAN ; Yan GU ; Na LIU ; Zheng GE
Chinese Journal of Hematology 2025;46(3):252-260
Objective:To investigate the key genetic mutations during the progressive disease (PD) /leukemic transformation (LT) course in MDS by analyzing the dynamic changes of genetic mutations in patients with myelodysplastic neoplasms (MDS) with or without PD/LT.Methods:This study enrolled 84 patients with sequential MDS from May 2019 to August 2023 at ZhongDa Hospital Southeast University and used the next generation sequencing to detect gene mutations. The dynamic changes of genetic mutations in patients with MDS with or without PD/LT were retrospectively analyzed.Results:①This study analyzed data from 84 patients diagnosed with MDS with a median age of 63 (range: 31-95) years and consisting of 51 males and 33 females. Participants were distributed to the PD cohort ( n=20), LT cohort ( n=13), and non-PD/LT cohort ( n=51). Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts than the non-PD/LT cohort at the first sequencing (1.6% vs. 0.4%, P=0.013). ②The most frequently mutated genes that were detected at first sequencing were ASXL1 ( n=21, 25.0%), TP53 ( n=17, 20.2%), TET2 ( n=12, 14.3%), DNMT3A ( n=11, 13.1%), and U2AF1 ( n=11, 13.1%). Further, patients from the PD/LT cohorts exhibited a higher median number of mutated genes than the non-PD/LT cohort (2 vs.1, P=0.014) at first sequencing. TET2 (27.3% vs. 5.9%, P=0.010), SETBP1 (15.2% vs.2.0%, P=0.033), and RUNX1 (18.2% vs. 2.0%, P=0.013) mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort. ③The most frequently detected acquired mutations (Ⅰ mutations) and clonally expanded mutations (Ⅱ mutations) were TP53 ( n=9, 10.7%), TET2 ( n=7, 8.3%), ASXL1 ( n=7, 8.3%), and RAS pathway ( n=7, 8.3%). Furthermore, patients from the PD/LT cohorts showed a higher median number of Ⅰ/Ⅱ genes than the non-PD/LT cohort (2 vs. 0, P<0.001), and Ⅰ/Ⅱ RAS pathway (21.2% vs. 0, P=0.001), TP53 (27.3% vs. 0, P<0.001), and TET2 (18.2% vs. 2.0%, P=0.013) mutations were enriched in PD/LT cohorts than in the non-PD/LT cohorts. ④Most of the TP53 mutations (9/12, 75.0%) in PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas all of the TP53 mutations in non-PD/LT cohort were clone-decrease mutations (Ⅲ mutations) (5/8, 62.5%) or clone-stable mutations (Ⅳ mutations) (3/8, 37.5%). Most of the RAS pathway mutations (7/8,87.5%) in the PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas only one patient in the non-PD/LT cohort demonstrated RAS pathway mutations, which belonged to Ⅳ mutations. Conclusion:Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts and a higher median number of mutations than the non-PD/LT cohort at first sequencing; TET2, SETBP1, and RUNX1 mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort at first sequencing. Patients from the PD/LT cohorts exhibited a higher number of Ⅰ/Ⅱ mutations than the non-PD/LT cohort. Further, Ⅰ/Ⅱ TP53, RAS pathway, and TET2 mutations were enriched in the PD/LT cohorts, and Ⅰ/Ⅱ TP53 and RAS pathway mutations may contribute to the PD/LT.
7.Perioperative nursing care of 2 children with dilated cardiomyopathy undergoing orthotopic heart transplantation
Yan CHEN ; Ying GU ; Yulu XU ; Lan YE ; Huimei WANG ; Lili FU ; Yaping MI ; Ming YE ; Fang LIU
Chinese Journal of Nursing 2024;59(21):2653-2658
This study summarized the nursing experience of 2 pediatric heart transplant surgeries.Perioperative care included preoperative maintenance of cardiac function,volume management,infection prevention measures,and psychological preparation.Early postoperative care involved circulatory monitoring,management of right heart dysfunction,use of immunosuppressants,observation of rejection reactions,control of postoperative infections,nutritional support,psychological care,and home continuity care.The postoperative rehabilitation effect of the children is satisfactory after multi-team special treatment and nursing care.The postoperative hospitalization time for the 2 patients were 20 and 30 days.After discharge,2 patients showed good recovery during follow-up.
8.Summary of the best evidence for non-pharmacological management of Parkinson's disease patients with depression
Xiaoyu LIU ; Chao ZHANG ; Yan LING ; Wenguang XIE ; Xinchen YANG ; Yulu DENG
Chinese Journal of Modern Nursing 2024;30(1):70-76
Objective:To retrieve, screen, and summarize the best evidence for non-pharmacological management of Parkinson's disease patients with depression, so as to provide evidence-based basis for medical and nursing staff to standardize the non-pharmacological management.Methods:Following the "6S" evidence model, relevant literature was systematically searched from top to bottom in UpToDate, British Medical Journal, Joanna Briggs Institute Evidence-Based Health Care Center Database, National Institute for Health and Clinical Excellence, Guidelines International Network, Agency for Healthcare Research and Quality, Scottish Intercollegiate Guidelines Network, Medlive, Parkinson's Society of Canada, Cochrane Library, CINAHL, PubMed, Web of Science, Embase, China Biology Medicine, China National Knowledge Infrastructure, and WanFang Data. The search period was from database establishment to March 31, 2023. After conducting methodological quality evaluation based on literature standards, evidence was extracted and summarized from literature that met the standards, and the level of each evidence was determined.Results:A total of 22 articles were included, including one clinical decision-making, three guidelines, 14 systematic reviews, and four expert consensuses. A total of 30 best evidence were formed from six aspects, namely screening and evaluation, psychological intervention, physical therapy, traditional Chinese medicine therapy, exercise, and health education.Conclusions:The best evidence for non-pharmacological management of Parkinson's disease patients with depression summarized provides evidence-based basis for the development of non-pharmacological management plans for Parkinson's disease patients with depression.
9.Scoping review of self-advocacy needs and behaviors of adult cancer patients
Yuanyuan LI ; Lin CHENG ; Yulu XU ; Bei PEI ; Huan LI ; Jinlong LIU ; Yan LOU
Chinese Journal of Modern Nursing 2024;30(21):2916-2923
Objective:To conduct a scoping review of research on the self-advocacy of adult cancer patients to identify their self-advocacy needs, behaviors, strengths and weaknesses, so as to provide guidance for future research in this field.Methods:Using the scoping review guidelines of Joanna Briggs Institute in Australia as a methodological framework, relevant literatures were searched in PubMed, Web of Science, Cochrane Library, Embase, Science Direct, CINAHL, Scopus, China National Knowledge Infrastructure, Wanfang, VIP and China Biology Medicine disc. The search period was from establishment of the databases to December 2023, and the results were summarized and analyzed.Results:A total of 14 articles were included, and self-advocacy needs included six types of needs, such as symptom management, communication, interpersonal support, disease information, decision-making and emotional management. Self-advocacy included four aspects, including seeking information, self-decision-making, strengthening contact with the outside world and effective communication.Conclusions:Adult cancer patients have diverse types of self-advocacy needs and certain self-advocacy behaviors. Future research should pay attention to self-advocacy needs assessment, develop corresponding tools, focus on self-advocacy behaviors, leverage the advantages of self-advocacy and explore strategies to achieve effective self-advocacy support.
10.Aortic stenosis of fetus caused by chimeric Y-chromosome isobaric double-adherent granules:A case report and literature review
Yulu QUAN ; Pingping ZHANG ; Yan LUO ; Jing HUO ; Xiaoping YU ; Yanmei SUN ; Yali LI
Journal of Jilin University(Medicine Edition) 2024;50(1):260-264
Objective:To confirm the potential etiological factors of congenital aortic stenosis(AS)by genetic analysis on prenatal diagnostic results of the fetus with AS.Methods:Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array(SNP-array)analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as"fetus AS";chromosome karyotyping was also performed on the peripheral blood of the fetal parents.Results:The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules.The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region.Both the parents presented a normal karyotype,suggesting it was a newfound mutation.After extensive genetic counseling,the pregnant woman and her family chose to terminate the pregnancy locally.Conclusion:The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus.The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.

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