1.Application value of chromosomal microarray analysis for the detection of low-level mosaicisms in amniotic fluid samples and analysis of rare cases
Huiyuan SHAO ; Zongyu MIAO ; Hong WU ; Lei LI ; Xiaoyan LIU ; Yuping WANG ; Lihua JIANG
Chinese Journal of Medical Genetics 2025;42(4):441-445
Objective:To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms.Methods:Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells. Results:Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH.Conclusion:CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.
2.Influences of FibroScan detection on the pregnancy outcomes of pregnant rats transfected with hepatitis B virus and the growth of their offspring rats
Keng CHEN ; Shumei ZHANG ; Yaping WANG ; Qian JIAO ; Pinghong LI ; Keli YANG ; Baolin LIAO ; Huiyuan LIU
Chinese Journal of Experimental and Clinical Virology 2025;39(4):427-433
Objective:To explore the influences of FibroScan detection on the pregnancy outcomes of pregnant rats transfected with hepatitis B virus and the growth of their offspring rats.Methods:Sixty SPF-grade SD rats with a male-to-female ratio of 5∶1 were selected,randomly divided the female rats into the groups of mid-pregnancy with hepatitis B,late-pregnancy with hepatitis B,normal mid-pregnancy,normal late-pregnancy,and control group,and the rats in the mid-pregnancy and late-pregnancy groups were subjected to FibroScan testing on the 10th and 15th days of gestation respectively. The number of offspring rats in each group was randomly reduced to 10 on the 3rd day after delivery,and the offspring rats were divided into the groups of mid-pregnancy with hepatitis B,late-pregnancy with hepatitis B,normal mid-pregnancy,normal late-pregnancy,and control group. The pregnancy outcome levels of pregnant rats were observed by adopting a stratified analysis strategy,including differences in weight changes,number of deliveries,fetal rat outcomes,lactation conditions,litter size,and litter weight. The growth levels of offspring rats,including differences in weight,body length,tail length,and the time of fur growth,tooth eruption,eye opening,and ear standing on the 21st day were observed,and the survival rate of the offspring rats was compared.Results:With regard to the pregnancy outcome levels of the pregnant rats,there were no statistically significant differences in weight changes during pregnancy among the five groups of pregnant rats[ F(4,45)=2.627,Adjusted P=0.222]. There were also no statistically significant differences in the number of deliveries,fetal rat outcomes,and lactation conditions(Adjusted P=1.000). The number of deliveries[ F(4,21.095)=2.280,Adjusted P=0.222]and litter weight[ F(4,20.128)=2.159,Adjusted P=0.222]showed no statistically significant differences. After correction using the BH method,none of the indicators showed significant differences( P>0.05). In terms of the growth levels of the offspring rats,among the five groups of offspring rats,there were no statistically significant differences in body weight on the 21st day[H(4)=11.623,Adjusted P=0.135],body length on the 21st day[H(4)=10.962,Adjusted P=0.135],and tail length on the 21st day[H(4)=9.126,Adjusted P=0.058]. Besides,the differences in the time of fur growth,tooth eruption,eye opening,and ear standing[H(4)=0.000,Adjust P=1.000]showed no statistical significance. The survival rate on the 7th day,14th day,and 21st day was 100%,with no significant differences(Adjusted P=1.000). After correction using the BH method,none of the indicators showed significant differences( P>0.05). Conclusion:FibroScan detection had no significant influences on the pregnancy outcomes of pregnant rats with hepatitis B or on the growth of their offspring rats in multiple stages,dimensions,and indicators,indicating that FibroScan detection is safe for pregnant rats. This research provides an animal experimental basis for the safe use of FibroScan in pregnant women with chronic HBV infection.
3.Clinical characteristics of juvenile dermatomyositis in anti-nuclear matrix protein 2 antibody-positive patients and risk factors for severity: a national multicenter retrospective study
Huiyuan YANG ; Wanzhen GUAN ; Ling2 YANG ; Haimei LIU ; Xiaoqing3 LI ; Haiguo YU ; Meiping LU ; Jun YANG ; Xiaohui LIU ; Hongxia ZHANG ; Wei ZHANG ; Jihong XIAO ; Xiaozhong LI ; Guomin LI ; Hong CHANG ; Sheng HAO ; Yue DU ; Daliang XU ; Ling WU ; Wenjie ZHENG ; Li LIU ; Xinhui JIANG ; Shaohui ZHU ; Dongmei ZHAO ; Xuemei TANG ; Li SUN
Chinese Journal of Pediatrics 2025;63(12):1299-1305
Objective:To investigate the clinical characteristics and independent risk factors of severe disease in patients with anti-nuclear matrix protein (NXP) 2 antibody-positive juvenile dermatomyositis (JDM).Methods:A retrospective cohort study was conducted, including 219 anti-NXP2 antibody-positive JDM patients admitted to 23 children′s hospitals across China from July 2011 to July 2023. Patients were classified into severe and non-severe groups based on classification criteria for severe dermatomyositis. Demographic characteristics, clinical manifestations, and laboratory parameters were compared between the 2 groups using independent sample t-test, Mann-Whitney U test, or χ2 test. Univariate and multivariate Logistic regression analyses were performed to identify risk factors for severe disease. The receiver operating characteristic curve was employed to calculate optimal cut-off values. Results:Among the 219 patients, 108 were male and 111 were female, with an age at onset of 6.3 (3.5, 9.4) years. The severe group comprised 69 patients, and the non-severe group 150 patients. The severe group had significantly higher rates of fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, as well as elevated levels of ferritin-to-albumin ratio (FAR), creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) (all P<0.05). Multivariate analysis identified anti-Ro52 antibody positivity ( OR=13.26, 95% CI 1.37-128.29) and elevated FAR ( OR=1.90, 95% CI 1.09-2.31) as independent risk factors for severe anti-NXP2 antibody-positive JDM (both P<0.05). Receiver operating characteristic curve analysis revealed that a FAR cutoff value of 6.82 predicted severe disease with an area under the curve of 0.87 (95% CI 0.81-0.94, P<0.001), sensitivity of 0.85, and specificity of 0.70. All patients received glucocorticoid therapy, and the severe group received higher proportions of steroid pulse therapy, cyclophosphamide, mycophenolate mofetil, intravenous immunoglobulin, biologics, and adjuvant treatments compared to the non-severe group (all P<0.05). In terms of outcomes, 2 patients (2.9%) in the severe group died (due to neurological involvement and intestinal perforation, respectively), while the remaining patients achieved complete clinical response or remission. All patients in the non-severe group achieved remission. Conclusions:The primary clinical features of anti-NXP2 antibody-positive JDM included fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, and elevated levels of CK, AST, LDH, and FAR. Furthermore, anti-Ro52 antibody positivity and a FAR>6.82 were identified as independent risk factors.
4.Sanjiao differentiation and treatment of chronic pulmonary heart disease in the context of the"ying-wei imbalance"theory
Qiyu WEN ; Luyang LIU ; Kailong ZHOU ; Jiarou WANG ; Shuai LIANG ; Weiwei ZHONG ; Huiyuan SUN
Journal of Beijing University of Traditional Chinese Medicine 2025;48(9):1278-1284
The"ying-wei imbalance"theory originates from Inner Canon of Yellow Emperor,which refers to the dynamic pathological process of yingfen and weifen circulation,distribution,posture,strength,and weakness due to internal and external disturbance,emphasizing that"ying-wei imbalance"is the key to disease occurrence.The sanjiao,as the"envoy of primordial qi,"is central to yingfen and weifen,and the coordinated operation of yingfen and weifen depends on the promotion of the qi of sanjiao.Therefore,based on the yingfen and weifen theory and sanjiao differentiation and treatment,this paper discusses the etiology and pathogenesis of chronic pulmonary heart disease,as well as the syndrome differentiation approach."Ying-wei imbalance"is the core of this mechanism:in the early stage,the loss of yingfen and weifen nutrition,combined with the deficiency of the qi of sanjiao,allows exogenous pathogens to invade the lungs.During progression,dysfunction in the transportation function of yingfen and weifen,along with the stagnation of the qi of sanjiao,results in pulmonary and cardiac involvement,accompanied by phlegm accumulation and stagnation.The end stage is characterized by the failure of both ying and wei,along with dysfunction of the sanjiao and zang-fu organs,which interact to form a pathological chain of"qi disease involving body."Accordingly,the treatment principle of"harmonizing yingfen and weifen,giving sanjiao treatment"was proposed.This is implemented through three therapeutic strategies:"harmonizing""returning",and"astringing"aimed at restoring balance.In the early stage,treatment focuses on tonifying the lungs and consolidating the exterior to eliminate pathogenic factors and activate stagnation.The selected formula is Buyuan Decoction with modifications to harmonize sanjiao.During the developmental stage,treatment focuses on promoting collaterals and dispersing phlegm,utilizing the modified Xuefu Zhuyu Decocotion to facilitate the restoration of function to the sanjiao.In the final stage,Fuyang Decoction,with modifications,is used to resolve fluid retention and nourish both qi and blood.Discussions are closely focused on the syndrome differentiation system of"sanjiao-yingfen and weifen,"in order to offer a novel perspective on the management of chronic pulmonary heart disease.
5.Exploring the etiology,pathogenesis,prevention and treatment of cardiac remodeling in microgravity based on the trinity view of"Physique-Qi-Spirit"
Sitong YAN ; Luyang LIU ; Jiarou WANG ; Kailong ZHOU ; Peng TIAN ; Qian NAN ; Huiyuan SUN
Space Medicine & Medical Engineering 2025;36(5):458-463
Cardiac remodeling in microgravity exerts effects on astronauts'health and space mission efficiency.This paper analyzes the etiology,pathogenesis,prevention,and treatment of cardiac remodeling in microgravity based on the Trinity View of"Physique-Qi-Spirit"of traditional Chinese medicine.The microgravity environment disrupts the heaven-earth qi interaction law described in"Suwen Yin Yang Ying Xiang Da Lun":"Earth qi ascends to form clouds through heavenly evaporation,while heaven qi descends as rain".This disruption causes upward reversal of human qi and cephalad fluid shift,consequently influencing the dynamic balance of the physique-qi-spirit system and inducing cardiac remodeling.The core pathogenesis initiates with qi upward reversal at the initial stage,advances through spiritual disturbance during progression,and culminates in physical impairment at the terminal stage.We therefore propose a holistic"physique-qi-spirit"co-regulation strategy implemented via three therapeutic principles:regulating qi,stabilizing spirit,and restoring physique.This approach aims to restore the dynamic balance of the"physique-qi-spirit"system in microgravity,apply the concept of"preventive treatment of diseases",holistically prevent or delay cardiac remodeling,and provide Traditional Chinese Medicine solutions for safeguarding astronauts'cardiovascular health.
6.Application value of chromosomal microarray analysis for the detection of low-level mosaicisms in amniotic fluid samples and analysis of rare cases.
Huiyuan SHAO ; Zongyu MIAO ; Hong WU ; Lei LI ; Xiaoyan LIU ; Yuping WANG ; Lihua JIANG
Chinese Journal of Medical Genetics 2025;42(4):441-445
OBJECTIVE:
To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms.
METHODS:
Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells.
RESULTS:
Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH.
CONCLUSION
CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.
Humans
;
Female
;
Amniotic Fluid/metabolism*
;
Pregnancy
;
Mosaicism/embryology*
;
Prenatal Diagnosis/methods*
;
Adult
;
In Situ Hybridization, Fluorescence
;
Microarray Analysis/methods*
;
Karyotyping
;
Retrospective Studies
;
Male
7.Exploration on the Academic Thoughts of Chen Shiduo in the Differentiation and Treatment of Hyperhidrosis
Shuai LIANG ; Luyang LIN ; Yuxuan ZHOU ; Li'an LIU ; Kailong ZHOU ; Qiyu WEN ; Shen'ao TIAN ; Huiyuan SUN
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(6):178-182
This article introduced the experience of physician Chen Shiduo of the Qing Dynasty in treating hyperhidrosis as documented in Bian Zheng Lu.Chen Shiduo proposed several syndromes for hyperhidrosis,including insufficient lung qi,imbalance between the heart and kidney,depletion of kidney yin,excessive stomach fire,and deficiency of heart blood.In terms of treatment,he advocated for methods that focus on reinforcing deficiency and consolidating the exterior while also nourishing yin,clearing heart heat and nourishing kidney water,replenishing true yin to harmonize yin and yang,nourishing stomach yin to reduce fire and stop sweating,and nourishing the heart to enrich blood and drain fire.His medication approach emphasizes harmonizing the internal organs,with a particular expertise in using Mori Folium.His diagnosis and treatment of hyperhidrosis have been remarkably effective and serve as a reference for later generations.
8.Antimicrobial resistance surveillance in the bacterial strains isolated from pediatric intensive care units in China:results from 2020 to 2022
Jing LIU ; Huiyuan YAN ; Gangfeng YAN ; Guoping LU ; Pan FU ; Chuanqing WANG ; Danqun JIN ; Wenjia TONG ; Chenyu ZHANG ; Jianli CHEN ; Yi LIN ; Jia LEI ; Yibing CHENG ; Qunqun ZHANG ; Kaijie GAO ; Yuanyuan CHEN ; Shufang XIAO ; Juan HE ; Li JIANG ; Huimin XU ; Yuxia LI ; Hanghai DING ; Hehe CHEN ; Yao ZHENG ; Qunying CHEN ; Ying WANG ; Hong REN ; Chenmei ZHANG ; Zhenjie CHEN ; Mingming ZHOU ; Yucai ZHANG ; Yiping ZHOU ; Zhenjiang BAI ; Saihu HUANG ; Lili HUANG ; Weiguo YANG ; Weike MA ; Qing MENG ; Pengwei ZHU ; Yong LI ; Yan XU ; Yi WANG ; Yanqiang DU ; Huijun CAI ; Bizhen ZHU ; Huixuan SHI ; Shaoxian HONG ; Yukun HUANG ; Meilian HUANG
Chinese Journal of Infection and Chemotherapy 2025;25(3):303-311
Objective This study aimed to investigate the antimicrobial resistance profiles of bacterial strains isolated from pediatric intensive care units(PICU)in China for better antimicrobial therapy.Methods Clinical isolates were collected from 17 institutions,including tertiary care children's hospitals and pediatric department of tertiary general hospitals in China from January 1,2020 to December 31,2022.Antimicrobial susceptibility testing was carried out according to a unified protocol using Kirby-Bauer method or automated systems.Results were interpreted according to the breakpoints released by the Clinical and Laboratory Standards Institute(CLSI)in 2020.Results A total of 10 688 isolates were collected,including gram-positive organisms(39.2%)and gram-negative organisms(60.8%).The top three organisms were S.aureus(13.6%,1 453/10 688),A.baumannii(10.0%,1 067/10 688),and coagulase-negative Staphylococcus(9.9%,1 058/10 688).Multi-drug resistant organisms(MDROs)were very common in children.The prevalence of methicillin-resistant Staphylococcus aureus(MRSA),carbapenem-resistant Enterobacterales(CRE),carbapenem-resistant E.coli,carbapenem-resistant K.pneumoniae(CRKP),carbapenem-resistant A.baumannii(CRAB),and carbapenem-resistant P.aeruginosa(CRPA)was 41.1%,19.4%,8.8%,30.9%,67.4%,and 28.8%,respectively.Overall,more than 50%of Enterobacteriales isolates were resistant to cephalosporins,while nearly 25%of Enterobacteriales isolates were resistant to carbapenems.MDROs were highly resistant to commonly used antibiotics.More than 80%of CRE and CRAB strains were resistant to all beta-lactam antibiotics.CRE and CRAB showed low resistance rates to tigecycline and polymyxin.CRPA showed lower resistance rates to piperacillin,beta-lactamase inhibitor combinations than the resistance rates to third and fourth generation cephalosporins.All of the Staphylococcus and Enterococcus isolates were susceptible to vancomycin and tigecycline.None of PRSP strains isolated from meningitis and nonmeningitis samples were resistant to rifampicin,vancomycin,or linezolid.The prevalence of β-lactamase-negative ampicillin-resistant(BLNAR)strains was 43.3%in Haemophilus influenzae.Conclusions MDROs were prevalent in PICU.It is necessary to establish an effective multidisciplinary team(MDT)to control the antimicrobial resistance.
9.Brief analysis of etiology,pathogenesis,and treatment method of microgravity-induced cardiac remodeling based on the theory of"yang transforming qi and yin forming shape"
Xiaotong GU ; Luyang LIU ; Yue SUN ; Kailong ZHOU ; Zihua LI ; Yi YANG ; Shuai LIANG ; Huiyuan SUN
Journal of Beijing University of Traditional Chinese Medicine 2025;48(5):593-598
Microgravity-induced cardiac remodeling presents a substantial challenge that constrains the advancements in the international space industry,which mainly manifests as alterations in the morphology,structure,and function of the heart.This paper analyzed the core pathogenesis and treatment of microgravity-induced cardiac remodeling based on the theory of"yang transforming qi and yin forming shape"in Huangdi Neijing."Yang transforming qi"reflects the changes in cardiac function,whereas"yin forming shape"reflects the changes in cardiac morphology and structure.Based on the basic and clinical research of space cardiac dysfunctions,the core pathogenesis of microgravity-induced cardiac remodeling is the insufficiency of"yang transforming qi",accompanied by yin excess and yang deficiency due to excessive"yin forming shape"in the early stage,which evolves into deficiency of both yin and yang in the late stage.Thus,this paper specifically refined the treatment methods and corresponding formulas,including warming viscera yang to transform qi,draining yin blood to restore yang qi,and consolidating yin and yang to nourish primal energy.These insights provide systematic theoretical support and conceptual inspiration for the traditional Chinese medicine treatment of microgravity-induced cardiac remodeling.
10.MR modulated flip angle technique in refocused imaging with extended echo train contrast enhanced T1-weighted fluid attenuated inversion recovery(MATRIX CE-T1 FLAIR)sequence for detecting skull metastases
Junhong LIU ; Junhui YUAN ; Zhenzhen ZHANG ; Suya QIAO ; Huiyuan YANG ; Dongqiu SHAN ; Yue WU ; Chunmiao XU ; Xuejun CHEN
Chinese Journal of Interventional Imaging and Therapy 2025;22(8):516-519
Objective To explore the value of MR modulated flip angle technique in refocused imaging with extended echo train(MATRIX)contrast enhanced(CE)T1-weighted fluid attenuated inversion recovery(T1 FLAIR)for detecting skull metastases.Methods Forty-four patients with malignant tumors who underwent head MR scanning for screening skull metastasis were prospectively enrolled,and skull metastasis were then confirmed by pathology or imaging examinations,including MRI,CT,radionuclide bone imaging(BS),PET/CT and follow-up.Head MATRIX CE-T1 FLAIR(group A),3D gradient recalled echo_fast spin echo with magnetization preparation(GRE_fsp)CE-T1 FLAIR(group B)and fast spin echo(FSE)CE-T1 FLAIR(group C)images of all 44 cases were acquired.The subjective scores(including images quality and diagnostic confidence)and objective evaluation results of images were compared among groups.Taken BS or PET/CT results as standards,the efficacy of 3 kinds of images for detecting skull metastases was calculated.Results The subjective scores of images quality and diagnostic confidence,as well as signal-to-noise ratio(SNR)in group A and C were all higher than those in group B(all P<0.001),and signal intensity(SI)metastases in group A was higher than those in group B and C(both P<0.05).No significant difference of subjective score and SNR was found between groups A and C,nor of SImetastases between groups B and C(all P>0.05).Totally 102 skull metastases were diagnosed with PET/CT or BS,while 129,151 and 115 lesions were detected in group A,B and C,respectively,with accuracy rate of 79.07%(102/129),67.55%(102/151)and 88.70%(102/115),respectively.Conclusion MATRIX CE-T1 FLAIR sequence could be used to detect skull metastases.

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