1.Research progress on the application of visual electrophysiological examination in early diagnosis of glaucoma
Chang SUN ; Rong ZHANG ; Xiaolin XIAO ; Minpeng XU ; Dong MING ; Xia HUA
International Eye Science 2025;25(7):1073-1078
Glaucoma is a group of optic nerve disorders characterized by progressive optic nerve atrophy and visual field defects, which can lead to irreversible blindness. Early diagnosis of glaucoma is essential for preventing visual loss. However, due to the absence of obvious early symptoms, the diagnosis of glaucoma remains challenging. Visual electrophysiological examinations, an objective approach for evaluating visual function, have the potential to be used in the early diagnosis of glaucoma. This review integrates the latest publications to introduce visual electrophysiological examination techniques, including electroretinography(ERG)and visual evoked potential(VEP). It also explores the mechanisms underlying these techniques and their application value in the early diagnosis of glaucoma. In addition, this review summarizes the advantages, limitations, and applicable scenarios of different visual electrophysiological techniques. Finally, the review provides an outlook on the development prospects of visual electrophysiological techniques in the early diagnosis of glaucoma. The findings of this review can assist clinicians in selecting appropriate diagnostic methods, promote the innovation and development of early visual electrophysiological diagnostic techniques for glaucoma, and contribute to reducing the risk of blindness caused by glaucoma.
2.6-Week Caloric Restriction Improves Lipopolysaccharide-induced Septic Cardiomyopathy by Modulating SIRT3
Ming-Chen ZHANG ; Hui ZHANG ; Ting-Ting LI ; Ming-Hua CHEN ; Xiao-Wen WANG ; Zhong-Guang SUN
Progress in Biochemistry and Biophysics 2025;52(7):1878-1889
ObjectiveThe aim of this study was to investigate the prophylactic effects of caloric restriction (CR) on lipopolysaccharide (LPS)-induced septic cardiomyopathy (SCM) and to elucidate the mechanisms underlying the cardioprotective actions of CR. This research aims to provide innovative strategies and theoretical support for the prevention of SCM. MethodsA total of forty-eight 8-week-old male C57BL/6 mice, weighing between 20-25 g, were randomly assigned to 4 distinct groups, each consisting of 12 mice. The groups were designated as follows: CON (control), LPS, CR, and CR+LPS. Prior to the initiation of the CR protocol, the CR and CR+LPS groups underwent a 2-week acclimatization period during which individual food consumption was measured. The initial week of CR intervention was set at 80% of the baseline intake, followed by a reduction to 60% for the subsequent 5 weeks. After 6-week CR intervention, all 4 groups received an intraperitoneal injection of either normal saline or LPS (10 mg/kg). Twelve hours post-injection, heart function was assessed, and subsequently, heart and blood samples were collected. Serum inflammatory markers were quantified using enzyme-linked immunosorbent assay (ELISA). The serum myocardial enzyme spectrum was analyzed using an automated biochemical instrument. Myocardial tissue sections underwent hematoxylin and eosin (HE) staining and immunofluorescence (IF) staining. Western blot analysis was used to detect the expression of protein in myocardial tissue, including inflammatory markers (TNF-α, IL-9, IL-18), oxidative stress markers (iNOS, SOD2), pro-apoptotic markers (Bax/Bcl-2 ratio, CASP3), and SIRT3/SIRT6. ResultsTwelve hours after LPS injection, there was a significant decrease in ejection fraction (EF) and fractional shortening (FS) ratios, along with a notable increase in left ventricular end-systolic diameter (LVESD). Morphological and serum indicators (AST, LDH, CK, and CK-MB) indicated that LPS injection could induce myocardial structural disorders and myocardial injury. Furthermore, 6-week CR effectively prevented the myocardial injury. LPS injection also significantly increased the circulating inflammatory levels (IL-1β, TNF-α) in mice. IF and Western blot analyses revealed that LPS injection significantly up-regulating the expression of inflammatory-related proteins (TNF-α, IL-9, IL-18), oxidative stress-related proteins (iNOS, SOD2) and apoptotic proteins (Bax/Bcl-2 ratio, CASP3) in myocardial tissue. 6-week CR intervention significantly reduced circulating inflammatory levels and downregulated the expression of inflammatory, oxidative stress-related proteins and pro-apoptotic level in myocardial tissue. Additionally, LPS injection significantly downregulated the expression of SIRT3 and SIRT6 proteins in myocardial tissue, and CR intervention could restore the expression of SIRT3 proteins. ConclusionA 6-week CR could prevent LPS-induced septic cardiomyopathy, including cardiac function decline, myocardial structural damage, inflammation, oxidative stress, and apoptosis. The mechanism may be associated with the regulation of SIRT3 expression in myocardial tissue.
3.Study on the machanism of Huannao Yicong Deoction targeting HAMP to regulate iron metabolism and improve cognitive impairment in AD model mice
Ning-Ning SUN ; Xiao-Ping HE ; Shan LIU ; Yan ZHAO ; Jian-Min ZHONG ; Ya-Xuan HAO ; Ye-Hua ZHANG ; Xian-Hui DONG
Chinese Pharmacological Bulletin 2024;40(7):1240-1248
Aim To explore the effects of Huannao Yicong decoction(HYD)on the learning and memory ability and brain iron metabolism in APP/PS1 mice and the correlation of HAMP knockout mice and APP/PS1 double transgenic model mice.Methods The ex-periment was divided into five groups,namely,HAMP-/-group(6-month HAMP gene knockout mice),APP/PS1 group(6-month APP/PS1-double-transgenic mice),HAMP-/-+HYD,APP/PS1+HYD,and negative control group(6-month C57BL/6J mice),with six mice in each group.The dose was ad-ministered(13.68 g·kg-1 weight),and the other groups received distilled water for gavage once a day for two months.After the administration of the drug,the mice in each group were tested for learning and memory in the Morris water maze;Biochemical detec-tion was performed to detect iron ion content in each mouse brain;Western blot and RT-qPCR were carried out to analyze hippocampal transferrin(TF),transfer-rin receptor1(TFR1),membrane iron transporter1(FPN1)divalent metal ion transporter 1(DMT1)and β-amyloid protein(Aβ)protein and mRNA expression levels in each group.Results Compared with the normal group,both HAMP-/-mice and APP/PS1 mice had reduced the learning and memory capacity,in-creased iron content in brain tissue,Aβ protein ex-pression increased in hippocampus of HAMP-/-group and APP/PS1 group mice(P<0.01),the protein and mRNA expression of TF,TFR1 and DMT1 increased in hippocampal tissues of HAMP-/-and APP/PS1 groups(P<0.01),and the FPN1 protein and mRNA expres-sion decreased(P<0.01).Compared with the HAMP-and APP/PS1 groups,respectively,HAMP-/-+HYD group and APP/PS1+HYD group had improved learning and memory ability,decreased iron content,decreased Aβ protein expression(P<0.01),decreased TF,TFR1,DMT1 protein and mR-NA expression(P<0.01),and increased expression of FPN1 protein and mRNA(P<0.01).Conclusions There is some association between HAMP-/-mice and APP/PS1 mice,HYD can improve the learning and memory ability of HAMP-/-and APP/PS1 mice and reduce the Aβ deposition.The mechanism may be related to the regulation of TF,TFR1,DMT1,FPN1 expression and improving brain iron overload.
4.Clinical observation of sinus tarsi syndrome after lateral ankle sprain
Xiao-Xu XU ; Lei ZHANG ; Bo JIANG ; Jin SUN ; Xiao-Hua LIU ; Sheng ZHANG ; Yan LI
China Journal of Orthopaedics and Traumatology 2024;37(4):387-391
Objective To study the incidence rate of sinus tarsi syndrome after lateral ankle sprain and observe the clinical efficacy of sinus tarsal corticosteroid injections.Methods From January 2021 to Janury 2022,391 patients with lateral ankle sprain and 88 patients with sinus tarsi syndrome using corticosteroid injections(compound betamethasone 1 ml+lidocaine hy-drochloride 4 ml)were retrospectively analyzed.There were 22 males and 66 females,aged from 29 to 60 years old with an av-erage of(41.00±7.52)years old,duration of the disease from 1 to 12 months with an average of(5.6±4.2)months.The visual analogue scale(VAS)and American Orthopedic Foot and Ankle Society(AOFAS)scores were collected before,1 month,3 months,6 months,and 12 months after treatment.Results All 88 patients completed a 12-month follow-up.The incidence rate of sinus tarsi syndrome after lateral ankle sprain was 22.5%.One month after treatment,VAS was 1.20±0.89,AOFAS score was 88.70±7.04.Three months after treatment,VAS was 1.60±1.35,AOFAS score was 85.20±10.95.Six months after treat-ment,VAS 2.35±1.39,AOFAS 80.30±9.75.Twelve months after treatment,VAS was 2.80±1.51,AOFAS score was 79.1±9.94.Significant differences were found before and after treatment at all four time points of follow-up(P<0.05).Conclusion The re-sults of this study showed that the incidence rate of sinus tarsi syndrome after lateral ankle sprain was 22.5%.Corticosteroid injec-tions were effective in the short term with a 65%recurrence rate of symptoms within 1 year.For patients with no significant long-term effect of conservative treatment,clinicians may explore alternative approaches,including options like ankle arthroscopy.
5.Effect of lengthened proximal femoral nail anti-rotationin in the treatment of Seinsheimer type Ⅴ subtrochanteric fracture of femur
Chang-Cheng HUA ; Fei YANG ; Zhi-Qiang SUN ; Xiao-He WANG
Journal of Regional Anatomy and Operative Surgery 2024;33(6):532-534
Objective To investigate the clinical effect of lengthened proximal femoral nail anti-rotation(PFNA)in the treatment of Seinsheimer type Ⅴ subtrochanteric fracture of femur.Methods The clinical data of 21 patients with Seinsheimer type Ⅴ subtrochanteric fracture of femur treated by closed reduction or limited incision wire binding combined with lengthened PFNA in our hospital from January 2020 to August 2022 were retrospectively analyzed.The fracture healing status,treatment effect,postoperative complications and Harris score of hip joint function at the last postoperative follow-up of patients were recorded and evaluated.Results All patients were followed up for 6 to 12 months,and the fractures healed well.There were no cases of internal fixation breakage or cutting,no cases of vascular injury,and 1 case of ectopic ossification.At the last follow-up,the hip joint function was excellent in 15 cases,good in 4 cases and fair in 2 cases,with an excellent and good rate of 90.48%.Conclusion Lengthened PFNA can effectively treat Seinsheimer type Ⅴ subtrochanteric fracture of femur,and minimally invasive steel wire cerclage is performed when the closed reduction is not ideal,which has the advantages of less trauma,fast fracture healing,fewer postoperative complications and good recovery of hip joint function,and is worthy of clinical promotion and application.
6.Surveillance of bacterial resistance in tertiary hospitals across China:results of CHINET Antimicrobial Resistance Surveillance Program in 2022
Yan GUO ; Fupin HU ; Demei ZHU ; Fu WANG ; Xiaofei JIANG ; Yingchun XU ; Xiaojiang ZHANG ; Fengbo ZHANG ; Ping JI ; Yi XIE ; Yuling XIAO ; Chuanqing WANG ; Pan FU ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Jingyong SUN ; Qing CHEN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yunmin XU ; Sufang GUO ; Yanyan WANG ; Lianhua WEI ; Keke LI ; Hong ZHANG ; Fen PAN ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Wei LI ; Shanmei WANG ; Yafei CHU ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Qian SUN ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanqing ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Wenhui HUANG ; Juan LI ; Quangui SHI ; Juan YANG ; Abulimiti REZIWAGULI ; Lili HUANG ; Xuejun SHAO ; Xiaoyan REN ; Dong LI ; Qun ZHANG ; Xue CHEN ; Rihai LI ; Jieli XU ; Kaijie GAO ; Lu XU ; Lin LIN ; Zhuo ZHANG ; Jianlong LIU ; Min FU ; Yinghui GUO ; Wenchao ZHANG ; Zengguo WANG ; Kai JIA ; Yun XIA ; Shan SUN ; Huimin YANG ; Yan MIAO ; Mingming ZHOU ; Shihai ZHANG ; Hongjuan LIU ; Nan CHEN ; Chan LI ; Jilu SHEN ; Wanqi MEN ; Peng WANG ; Xiaowei ZHANG ; Yanyan LIU ; Yong AN
Chinese Journal of Infection and Chemotherapy 2024;24(3):277-286
Objective To monitor the susceptibility of clinical isolates to antimicrobial agents in tertiary hospitals in major regions of China in 2022.Methods Clinical isolates from 58 hospitals in China were tested for antimicrobial susceptibility using a unified protocol based on disc diffusion method or automated testing systems.Results were interpreted using the 2022 Clinical &Laboratory Standards Institute(CLSI)breakpoints.Results A total of 318 013 clinical isolates were collected from January 1,2022 to December 31,2022,of which 29.5%were gram-positive and 70.5%were gram-negative.The prevalence of methicillin-resistant strains in Staphylococcus aureus,Staphylococcus epidermidis and other coagulase-negative Staphylococcus species(excluding Staphylococcus pseudintermedius and Staphylococcus schleiferi)was 28.3%,76.7%and 77.9%,respectively.Overall,94.0%of MRSA strains were susceptible to trimethoprim-sulfamethoxazole and 90.8%of MRSE strains were susceptible to rifampicin.No vancomycin-resistant strains were found.Enterococcus faecalis showed significantly lower resistance rates to most antimicrobial agents tested than Enterococcus faecium.A few vancomycin-resistant strains were identified in both E.faecalis and E.faecium.The prevalence of penicillin-susceptible Streptococcus pneumoniae was 94.2%in the isolates from children and 95.7%in the isolates from adults.The resistance rate to carbapenems was lower than 13.1%in most Enterobacterales species except for Klebsiella,21.7%-23.1%of which were resistant to carbapenems.Most Enterobacterales isolates were highly susceptible to tigecycline,colistin and polymyxin B,with resistance rates ranging from 0.1%to 13.3%.The prevalence of meropenem-resistant strains decreased from 23.5%in 2019 to 18.0%in 2022 in Pseudomonas aeruginosa,and decreased from 79.0%in 2019 to 72.5%in 2022 in Acinetobacter baumannii.Conclusions The resistance of clinical isolates to the commonly used antimicrobial agents is still increasing in tertiary hospitals.However,the prevalence of important carbapenem-resistant organisms such as carbapenem-resistant K.pneumoniae,P.aeruginosa,and A.baumannii showed a downward trend in recent years.This finding suggests that the strategy of combining antimicrobial resistance surveillance with multidisciplinary concerted action works well in curbing the spread of resistant bacteria.
7.Changing resistance profiles of Staphylococcus isolates in hospitals across China:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Yuling XIAO ; Mei KANG ; Yi XIE ; Yang YANG ; Fupin HU ; Demei ZHU ; Yingchun XU ; Xiaojiang ZHANG ; Ping JI ; Fengbo ZHANG ; Chuanqing WANG ; Pan FU ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Yuxing NI ; Jingyong SUN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yan DU ; Sufang GUO ; Lianhua WEI ; Fengmei ZOU ; Hong ZHANG ; Chun WANG ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Chao YAN ; Shanmei WANG ; Yafei CHU ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanping ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Jilu SHEN ; Wenhui HUANG ; Ruizhong WANG ; Hua FANG ; Bixia YU ; Yong ZHAO ; Ping GONG ; Kaizhen WEN ; Yirong ZHANG ; Jiangshan LIU ; Longfeng LIAO ; Hongqin GU ; Lin JIANG ; Wen HE ; Shunhong XUE ; Jiao FENG ; Chunlei YUE
Chinese Journal of Infection and Chemotherapy 2024;24(5):570-580
Objective To investigate the changing distribution and antibiotic resistance profiles of clinical isolates of Staphylococcus in hospitals across China from 2015 to 2021.Methods Antimicrobial susceptibility testing was conducted for the clinical isolates of Staphylococcus according to the unified protocol of CHINET(China Antimicrobial Surveillance Network)using disk diffusion method and commercial automated systems.The CHINET antimicrobial resistance surveillance data from 2015 to 2021 were interpreted according to the 2021 CLSI breakpoints and analyzed using WHONET 5.6.Results During the period from 2015 to 2021,a total of 204,771 nonduplicate strains of Staphylococcus were isolated,including 136,731(66.8%)strains of Staphylococcus aureus and 68,040(33.2%)strains of coagulase-negative Staphylococcus(CNS).The proportions of S.aureus isolates and CNS isolates did not show significant change.S.aureus strains were mainly isolated from respiratory specimens(38.9±5.1)%,wound,pus and secretions(33.6±4.2)%,and blood(11.9±1.5)%.The CNS strains were predominantly isolated from blood(73.6±4.2)%,cerebrospinal fluid(12.1±2.5)%,and pleural effusion and ascites(8.4±2.1)%.S.aureus strains were mainly isolated from the patients in ICU(17.0±7.3)%,outpatient and emergency(11.6±1.7)%,and department of surgery(11.2±0.9)%,whereas CNS strains were primarily isolated from the patients in ICU(32.2±9.7)%,outpatient and emergency(12.8±4.7)%,and department of internal medicine(11.2±1.9)%.The prevalence of methicillin-resistant strains was 32.9%in S.aureus(MRSA)and 74.1%in CNS(MRCNS).Over the 7-year period,the prevalence of MRSA decreased from 42.1%to 29.2%,and the prevalence of MRCNS decreased from 82.1%to 68.2%.MRSA showed higher resistance rates to all the antimicrobial agents tested except trimethoprim-sulfamethoxazole than methicillin-susceptible S.aureus(MSSA).Over the 7-year period,MRSA strains showed decreasing resistance rates to gentamicin,rifampicin,and levofloxacin,MRCNS showed decreasing resistance rates to gentamicin,erythromycin,rifampicin,and trimethoprim-sulfamethoxazole,but increasing resistance rate to levofloxacin.No vancomycin-resistant strains were detected.The prevalence of linezolid-resistant MRCNS increased from 0.2%to 2.3%over the 7-year period.Conclusions Staphylococcus remains the major pathogen among gram-positive bacteria.MRSA and MRCNS were still the principal antibiotic-resistant gram-positive bacteria.No S.aureus isolates were found resistant to vancomycin or linezolid,but linezolid-resistant strains have been detected in MRCNS isolates,which is an issue of concern.
8.Methamphetamine Addiction-induced Apoptosis Is Inhibited by PI3K/AKT-Mediated Silencing of TRIM32
Xiao-Jing SUN ; Xian-Yong MENG ; Hui-Jiao YU ; Xiao-Hua DONG
Chinese Journal of Biochemistry and Molecular Biology 2024;40(7):999-1008
TRIM32(tripartite motif protein 32,TRIM32)plays an important role in cell differentiation and proliferation and is involved in a variety of biological processes,including signal transduction,apop-tosis,and gene expression regulation.In the previous study,our group found that TRIM32 knockout mice are less susceptible to methamphetamine(MA)addiction.The aim of this study was to investigate the effect of silencing TRIM32 by siRNA(small interfering RNA)transfection on the apoptosis of neuronal cells caused by MA addiction and its mechanism.In this paper,the expression of TRIM32 was silenced by siRNA in PC 12 cells,and subgroups were established:the normal control group,MA-treated group,TRIM32-silencing group,and TRIM32-silenceing+MA-treated group.The apoptosis of cells in each group was detected using in situ terminal deoxynucleotyl transferase-mediated dUTP-biotin nick end labe-ling assay(TUNEL staining),and the results showed that the percentage of cells in the TRIM32-silence-ing+MA-treated group was lower than the MA-treated group(P<0.01),indicating that TRIM32 silen-cing could inhibit MA-induced apoptosis.We also detected the changes of mitochondrial membrane po-tential in each group,which was increased in the TRIM32-silenceing+MA-treated group compared with the MA treatment group(P<0.05),indicating that TRIM32 silencing could regulate the MA-induced de-crease in mitochondrial membrane potential.The results of cellular immunofluorescence and Western blotting showed that the protein levels of cystatinase-3(caspase-3),cleaved-caspase-3(cleaved-caspase-3),and cytochrome c(Cyt-C)were significantly down-regulated in the TRIM32-silencing+MA-treated group compared with the MA-treated group(P<0.01)and phosphatidylinositol 3-kinase(PI3K)and phospho-protein kinase B(p-AKT)were significantly up-regulated(P<0.01),suggesting that silencing of TRIM32 to inhibit apoptosis may be achieved by modulating the PI3K/AKT signaling pathway.On the basis of this in-depth study,the PI3K/AKT inhibitor LY294002 was added to the experiment,and the results confirmed that LY294002 could partially block apoptosis by silencing TRIM32(P<0.05),which further confirmed that TRIM32 silencing inhibited MA through activation of the PI3K/AKT signaling.In conclusion,silencing TRIM32 could inhibit the mitochondrial apoptotic pathway triggered by MA addic-tion,thus exerting a neuroprotective effect,and the mechanism may be related to the PI3K/AKT signa-ling pathway.
9.Genetic Variation of SH2B3 in Patients with Myeloid Neoplasms
Qiang MA ; Rong-Hua HU ; Hong ZHAO ; Xiao-Xi LAN ; Yi-Xian GUO ; Xiao-Li CHANG ; Wan-Ling SUN ; Li SU ; Wu-Han HUI
Journal of Experimental Hematology 2024;32(4):1186-1190
Objective:To observe the genetic variation of SH2B3 in patients with myeloid neoplasms.Methods:The results of targeted DNA sequencing associated with myeloid neoplasms in the Department of Hematology,Xuanwu Hospital,Capital Medical University from November 2017 to November 2022 were retrospectively analyzed,and the patients with SH2B3 gene mutations were identified.The demographic and clinical data of these patients were collected,and characteristics of SH2B3 gene mutation,co-mutated genes and their correlations with diseases were analyzed.Results:The sequencing results were obtained from 1 005 patients,in which 19 patients were detected with SH2B3 gene mutation,including 18 missense mutations(94.74%),1 nonsense mutation(5.26%),and 10 patients with co-mutated genes(52.63%).Variant allele frequency(VAF)ranged from 0.03 to 0.66.The highest frequency mutation was p.Ile568Thr(5/19,26.32%),with an average VAF of 0.49,involving 1 case of MDS/MPN-RS(with SF3B1 mutation),1 case of MDS-U(with SF3B1 mutation),1 case of aplastic anemia with PNH clone(with PIGA and KMT2A mutations),2 cases of MDS-MLD(1 case with SETBP1 mutation).The other mutations included p.Ala567Thr in 2 cases(10.53%),p.Arg566Trp,p.Glu533Lys,p.Met437Arg,p.Arg425Cys,p.Glu314Lys,p.Arg308*,p.Gln294Glu,p.Arg282Gln,p.Arg175Gln,p.Gly86Cys,p.His55Asn and p.Gln54Pro in 1 case each.Conclusion:A wide distribution of genetic mutation sites and low recurrence of SH2B3 is observed in myeloid neoplasms,among of them,p.Ile568Thr mutation is detected with a higher incidence and often coexists with characteristic mutations of other diseases.
10.Background, design, and preliminary implementation of China prospective multicenter birth cohort
Si ZHOU ; Liping GUAN ; Hanbo ZHANG ; Wenzhi YANG ; Qiaoling GENG ; Niya ZHOU ; Wenrui ZHAO ; Jia LI ; Zhiguang ZHAO ; Xi PU ; Dan ZHENG ; Hua JIN ; Fei HOU ; Jie GAO ; Wendi WANG ; Xiaohua WANG ; Aiju LIU ; Luming SUN ; Jing YI ; Zhang MAO ; Zhixu QIU ; Shuzhen WU ; Dongqun HUANG ; Xiaohang CHEN ; Fengxiang WEI ; Lianshuai ZHENG ; Xiao YANG ; Jianguo ZHANG ; Zhongjun LI ; Qingsong LIU ; Leilei WANG ; Lijian ZHAO ; Hongbo QI
Chinese Journal of Perinatal Medicine 2024;27(9):750-755
China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

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