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中国医学影像技术 2024年第8期40卷 1212-1215页

作者： WEI Yingni ZHANG Yuchen DENG Zongfeng WANG Yingqiu HUANG Qiaojie CHEN Yayan Department of Ultrasound Shenzhen Longhua Maternity&Child Healthcare HospitalShenzhen 518110China

Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of *** Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were *** ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were *** Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 *** other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene *** 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal *** prenatal ultrasound was the first choice for non-invasive diagnosis of fetal *** one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.

关键词： Currarino triad ultrasonography,prenatal amniocentesis genes

Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway

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Science China Life Sciences 2024年第9期67卷 1915-1927页

作者： Ling Li Lei Lu Ziqi Xiao Jingyi Lv Hefeng Huang Bo Wu Tongjin Zhao Chengtao Li Weimin Wang Hongyan Wang Obstetrics and Gynecology hospital State Key Laboratory of Genetic Engineering Institute of Reproduction and Development and Children's Hospital Fudan University Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative Biology Fudan University prenatal diagnosis center of shenzhen maternity & child healthcare hospital Shanghai Medical College Fudan University Department of Pharmacy College of Life Sciences China Jiliang University

The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue homeostasis. SMAD6 encodes a negative regulator of BMP, and rare variants of SMAD6 are recurrently found in individuals with birth defects. However, we observed that a subset of rare pathogenic variants of SMAD6 consistently exhibited positive regulatory effects instead of the initial negative effects on the BMP signaling pathway. We sought to determine whether these SMAD6 variants have common pathogenic mechanisms. Here, we showed that pathogenic SMAD6 variants accompanying this functional reversal exhibit similar increases in deamidation. Mechanistically, increased deamidation of SMAD6 variants promotes the accumulation of the BMP receptor BMPR1A and the formation of new complexes, both of which lead to BMP signaling pathway activation. Specifically, two residues, N262 and N404, in SMAD6 were identified as the crucial sites of deamidation, which was catalyzed primarily by glutamine-fructose-6-phosphate transaminase 2(GFPT2). Additionally, treatment of cells harboring SMAD6 variants with a deamidase inhibitor restored the inhibitory effect of SMAD6 on the BMP signaling pathway. Conversely,when wild-type SMAD6 was manually simulated to mimic the deamidated state, the reversed function of activating BMP signaling was reproduced. Taken together, these findings show that deamidation of SMAD6 plays a crucial role in the functional reversal of BMP signaling activity, which can be induced by a subset of various SMAD6 variants. Our study reveals a common pathogenic mechanism shared by these variants and provides a potential strategy for preventing birth defects through deamidation regulation, which might prevent the off-target effects of gene editing.

关键词： SMAD6 deamidation BMP signaling pathway GFPT2

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Plasma proteome profiling reveals biomarkers of chemotherapy resistance in patients with advanced colorectal cancer

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Quantitative Biology 2024年第2期12卷 215-224页

作者： Jingxin Yang Jin Chen Luobin Zhang Fangming Zhou Xiaozhen Cui Ruijun Tian Ruilian Xu Medical Genetic center Affiliated Shenzhen Maternity and Child Healthcare HospitalSouthern Medical UniversityShenzhenChina Clinical center for Molecular diagnosis and Therapy The Second Affiliated Hospital of Fujian Medical UniversityQuanzhouChina Department of Chemistry and Research center for Chemical Biology and Omics Analysis School of ScienceSouthern University of Science and TechnologyShenzhenChina Department of Oncology Shenzhen People’s Hospital(The Second Clinical Medical CollegeJinan UniversityThe First Affiliated HospitalSouthern University of Science and Technology)ShenzhenChina

Colorectal cancer(CRC)is one of the most common *** with advanced CRC can only rely on chemotherapy to improve ***,primary drug resistance frequently occurs and is difficult to *** in plasma protein composition have shown potential in clinical ***,it is urgent to identify potential protein biomarkers for primary resistance to chemotherapy for patients with *** sample preparation and high-throughput analysis were used to explore potential plasma protein *** susceptibility testing of circulating tumor cells(CTCs)has been investigated,and the relationship between their values and protein expressions has been *** addition,the differential proteins in different chemotherapy outcomes have been ***,the potential biomarkers have been detected via enzyme-linked immunosorbent assay(ELISA).Plasma proteome of 60 CRC patients were *** correlation between plasma protein levels and the results of drug susceptibility testing of CTCs was performed,and 85 proteins showed a significant positive or negative correlation with chemotherapy ***-four CRC patients were then divided into three groups according to their chemotherapy outcomes(objective response,stable disease,and progressive disease),and 37 differential proteins were found to be related to chemotherapy *** overlapping proteins were further investigated in an additional group of 79 patients using *** levels of F5 and PROZ significantly increased in the progressive disease group compared to other outcome *** study indicated that F5 and PROZ proteins could represent potential biomarkers of resistance to chemotherapy in advanced CRC patients.

关键词： biomarker chemotherapy resistance colorectal cancer plasma proteome

Endorepellin和neurexin互作促进神经上皮细胞自噬并维持正常神经管发育

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Science Bulletin 2024年第14期69卷 2260-2272页

作者：卢磊白梅竹郑煜芳王修坤陈仲中彭瑞 Richard H.Finnell 赵同金李承涛吴波雷云平李劲松王红艳 Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Obstetrics&Gynecology hospital State Key Laboratory of Genetic EngineeringFudan UniversityShanghai 200032China Key Laboratory of Multi-Cell Systems Shanghai Key Laboratory of Molecular AndrologyCAS Center for Excellence in Molecular Cell ScienceShanghai Institute of Biochemistry and Cell BiologyChinese Academy of SciencesShanghai 200031China Obstetrics&Gynecology hospital The Institute of Obstetrics and GynecologyFudan UniversityShanghai 200090China center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHouston 77031USA Shanghai Medical College Fudan UniversityShanghai 200032China prenatal diagnosis center of shenzhen maternity&child healthcare hospital Shenzhen 518028China children’s hospital Fudan UniversityShanghai 201102China

Heparan sulfate proteoglycan 2(HSPG2)gene encodes the matrix protein Perlecan,and genetic inactivation of this gene creates mice that are embryonic lethal with severe neural tube defects(NTDs).We discovered rare genetic variants of HSPG2 in 10%cases compared to only 4%in controls among a cohort of 369 ***,a peptide cleaved from the domain V of Perlecan,is known to promote angiogenesis and autophagy in endothelial *** roles of enderepellin in neurodevelopment remain unclear so *** study revealed that endorepellin can migrate to the neuroepithelial cells and then be recognized and bind with the neuroepithelia receptor neurexin in *** the endocytic pathway,the interaction of endorepellin and neurexin physiologically triggers autophagy and appropriately modulates the differentiation of neural stem cells into neurons as a blocker,which is necessary for normal neural tube *** created knock-in(KI)mouse models with human-derived HSPG2 variants,using sperm-like stem cells that had been genetically edited by CRISPR/*** realized that any HSPG2 variants that affected the function of endorepellin were considered pathogenic causal variants for human NTDs given that the severe NTD phenotypes exhibited by these KI embryos occurred in a significantly higher response frequency compared to wildtype *** study provides a paradigm for effectively confirming pathogenic mutations in other genetic ***,we demonstrated that using autophagy inhibitors at a cellular level can repress neuronal ***,autophagy agonists may prevent NTDs resulting from failed autophagy maintenance and neuronal over-differentiation caused by deleterious endorepellin variants.

关键词： Neural tube defects Androgenetic haploid embryonic stem cells Basement membrane Neural stem cell Autophagy

Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome:A case report

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World Journal of Clinical Cases 2022年第34期10卷 12761-12767页

作者： Tian-Qin Deng Yu-Li Xie Jiang-Bo Pu Jiang Xuan Xue-Mei Li Reproductive Medical center Affiliated Shenzhen Maternity&Child Healthcare HospitalSouthern Medical UniversityShenzhen 518028Guangdong ProvinceChina Newborn Screening center Affiliated Shenzhen Maternity&Child Healthcare HospitalSouthern Medical UniversityShenzhen 518028Guangdong ProvinceChina

BACKGROUND Acephalic spermatozoa syndrome(ASS)is an extremely rare form of severe teratozoospermia,where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and *** SUMMARY We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological ***-exome sequencing was performed on the patient’s peripheral blood,which revealed two heterozygous variants of the PMFBP1 gene:PMFBP1c.414+1G>T(p.?)and PMFBP1c.393del(p.C132Afs*3).CONCLUSION It is speculated that the compound homozygous mutation of PMFBP1 may be the cause of *** conducted a literature review in order to provide the basis for genetic counseling and clinical diagnosis of patients with ASS.

关键词： Acephalic spermatozoa syndrome PMFBPI Infertility Male Sperm Case report

prenatal exposure to perfluorooctane sulfonate and perfluorooctanoate and the risk of preeclampsia: a nested case-control study in Shanghai, China

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Chinese Medical Journal 2023年第7期136卷 857-859页

作者： Ying Zhao Jizi Zhou Huangfang Xu Huanqiang Zhao Ping An Xiaotian Li Yu Xiong Obstetrics and Gynecology hospital Fudan UniversityShanghai 200090China shenzhen maternity&child healthcare hospital ShenzhenGuangdong 518028China

To the Editor:Preeclampsia presents with new-onset hypertension and maternal multi-organ injury that is associated with substantial maternal and fetal morbidity and mortality.[1]Although the etiology remains a mystery,environmental toxicants,especially those that interact with genetic factors and disrupt normal placental function,are emerging as potential risk factors for preeclampsia.

关键词： mortality fetal clamp

Comparison of two reader modes of computer-aided diagnosis in lung nodules on low-dose chest CT scan

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Journal of Innovative Optical Health Sciences 2022年第2期15卷 93-105页

作者： Qiongjie Hu Shaofang Wang Chong Chen Shichao Kang Ziyan Sun Yujin Wang Min Xiang Hanxiong Guan Yiwen Liu Liming Xia Department of Radiology Tongji Hospital Tongji Medical CollegeHuazhong University of Science and Technology Jiefang Dadao 1095(#)Wuhan 430030Hu BeiP.R.China Department of Radiology Shenzhen Maternity&Child Healthcare Hospital Affiliated to Southern Medical UniversityHongliShenzhen 518028P.R.China

Low-dose computerized tomography(LDCT)scanning is of great significance for monitoring and management of pulmonary nodules on chest computerized tomography(CT).Nevertheless,the malignant potential of these nodules is often difficult to detect,especially for some smaller pulmonary nodules on LDCT *** advances using the state-of-art computer-aided detection(CAD)system have attempted to address this problem by identifying small nodules that can be easily missed during clinical *** is used in two reading modes:Concurrent-reader(CR)mode or second-reader(SR)*** this study,we prospectively evaluated the efficiency of a CAD system's SR and CR modes in detecting pulmonary nodules on *** found that the SR mode improves pulmonary nodule detection regardless of the dose and ex-perience level,especially for interns in the low-dose *** CR mode maintains the sensi-tivity of SR mode while significantly decreasing reading times.

关键词： Computed tomography radiation dosage pulmonary nodules computer-assisted deep learning

Which fetal growth charts should be used?A retrospective observational study in China

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Chinese Medical Journal 2022年第16期135卷 1969-1977页

作者： Jianxin Zhao Ying Yuan Jing Tao Chunyi Chen Xiaoxia Wu Yimei Liao Linlin Wu Qing Zeng Yin Chen Ke Wang Xiaohong Li Zheng Liu Jiayuan Zhou Yangwen Zhou Shengli Li Jun Zhu National fficefor Maternal and child HealthSurvillance of China West China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Ultrasound Shenzhen Maternity and Chid Healthcare HospitalSouthern Medical UniversityShenzhenGuangdong 518028China Department of Obstetics Shenzhen Maternity and Child Healthcare HospitalSouthern Medical UniversityShenzhenGuangdong 518028China key Laboratoryof Birth Defects and Related Diseases of Women and Chidren(Sichuan University) Ministry of EducationWest China Second University HospitalSichuan UniversityChengduSichuan 610041China sichuan Birth Defects Clinical Research center West China Second University HospitalSichuan UniversityChengduSichuan 610041China

Background:The fetal growth charts in widest use in China were published by Hadlock>35 years ago and were established on data from several hundred of American pregnant *** that,>100 fetal growth charts were published around the *** attempted to assess the impact of applying the long-standing Hadlock charts and other charts in a Chinese population and to compare their ability to predict newborn small for gestational age(SGA).Methods:For this retrospective observational study,we reviewed all pregnant women(n=106,455)who booked prenatal care with ultrasound measurements for fetal biometry at the shenzhen maternity and child healthcare hospital between 2012 and 2019.A fractional polynomial regression model was applied to generate shenzhen fetal growth chart ranges for head circumference(HC),biparietal diameter(BPD),abdominal circumference(AC),and femur length(FL).The differences between shenzhen charts and published charts were quantified by calculating the *** impact of applying these published charts was quantifed by calculating the proportions of fetuses with biometric measurements below the 3rd centile of these *** sensitivity and area under the receiver operating characteristic curves of published charts to predict neonatal SGA(birthweight<10th centile)were assessed..Results:Following selection,169,980 scans of fetal biometry contributed by 41,032 pregnancies with reliable gestational age were *** using Hadlock references(<3rd centile),the proportions of small heads and short femurs were as high as 8.9%and 6.6%in late gestation,*** INTERGROWTH-21st standards matched those of our observed curves better than other charts,in particular for fat-free biometry(HC and FL).When using AC<10th centile,all of these references were poor at predicting neonatal ***:Applying long-standing Hadlock references could misclassify a large proportion of fetuses as ***-21st standard appears to be a safe option in

关键词： Infant newborn Pregnancy Growth chart Gestational age Birth weight prenatal care Biometry Fetal growth reference Ultrasound measurement Hadlock charts INTERGROWTH-21st charts China

Development and validation of a predictive model for endocervical curettage in patients referred for colposcopy:A multicenter retrospective diagnostic study in China

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Chinese Journal of Cancer Research 2022年第4期34卷 395-405页

作者： Peng Xue Bingrui Wei Samuel Seery Qing Li Zichen Ye Yu Jiang Youlin Qiao Department of Epidemiology and Biostatistics School of Population Medicine and Public HealthChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Faculty of Health and Medicine Division of Health ResearchLancaster UniversityLancasterLA14YWUnited Kingdom diagnosis and Treatment for Cervical Lesions center Shenzhen Maternity and Child Healthcare HospitalShenzhen 518028China

Objective:This study aimed to develop a nomogram that can predict occult high-grade squamous intraepithelial lesions or worse(HSIL+)and determine the need for endocervical curettage(ECC)in patients referred for ***:This retrospective multicenter study included 4,149 patients who were referred to any one of six tertiary hospitals in China for colposcopy between January 2020 and November 2021 because of abnormal screening *** data were extracted from the medical *** and multivariate logistic regression analyses were performed to identify factors that could predict HSIL+on *** were randomly assigned to a training set or to an internal validation set for performance and comparability *** model was externally validated and tested in patients from two additional *** nomogram was assessed in terms of discrimination and calibration and subjected to decision curve ***:HSIL+was found on ECC in 38.8%(n=388)of *** predictive nomogram included age group,cytology,human papillomavirus(HPV)status,visibility of the cervix and colposcopic *** nomogram had good overall discrimination,which was internally validated[area under the receiver-operator characteristic(AUC),0.839;95%confidence interval(95%CI),0.773-0.904].In terms of external validation,the AUC was 0.843(95%CI,0.773-0.912)for the consecutive sample and 0.843(95%CI,0.783-0.902)for the comparative *** analysis suggested good consistency between predicted and observed *** curve analysis suggested this nomogram would be clinically useful with almost the entire range of threshold ***:This internally and externally validated nomogram can be easily applied and incorporates multiple clinically relevant variables that can be used to identify patients with occult HSIL+who need ECC.

关键词： Cervical cancer colposcopy endocervical curettage nomogram

Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province,China

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Biomedical and Environmental Sciences 2023年第2期36卷 127-134页

作者： XI Hui LIU Qin XIE Dong Hua ZHOU Xu TANG Wang Lan TANG De Guo ZENG Chun Yan WANG Qiong NIE Xing Hui PENG Jin Ping GAO Xiao Ya WU Hong Liang ZHANG Hao Qing QIU Li FENG Zong Hui WANG Shu Yuan ZHOU Shu Xiang HE Jun ZHOU Shi Hao ZHOU Fa Qun ZHENG Jun Qing WANG Shun Yao CHEN Shi Ping ZHENG Zhi Fen MA Xiao Yuan FANG Jun Qun LIANG Chang Biao WANG Hua NHC Key Laboratory of Birth Defect for Research and Prevention Hunan Provincial Maternal and Child Health Care HospitalChangsha 410028HunanChina Yongzhou hospital for Maternal and child Health Care Yongzhou 425000HunanChina Changde hospital for Maternal and child Health Care Changde 415099HunanChina Hengyang hospital for Maternal and child Health Care Hengyang 421009HunanChina Shaoyang hospital for Maternal and child Health Care Shaoyang 422001HunanChina Yiyang hospital for Maternal and child Health Care Yiyang 413099HunanChina Yueyang hospital for Maternal and child Health Care Yueyang 414021HunanChina center of prenatal diagnosis Chenzhou No.1 People’s HospitalChenzhou 423099HunanChina Loudi hospital for Maternal and child Health Care Loudi 417599HunanChina Huaihua hospital for Maternal and child Health Care Huaihua 418099HunanChina Xiangtan hospital for Maternal and child Health Care Xiangtan 411104HunanChina Zhuzhou hospital for Maternal and child Health Care Zhuzhou 412008HunanChina Changsha hospital for Maternal and child Health Care Changsha 410007HunanChina Xiangxi Tujia and Miao Autonomous Prefecture hospital for Maternal and child Health Care Jishou 416000HunanChina Zhang Jiajie Centre for maternal and child health family planning services Zhangjiajie 427299HunanChina BGI Genomics BGI-ShenzhenShenzhen 518083GuangdongChina Clinical Laboratory of BGI Health BGI-ShenzhenShenzhen 518083GuangdongChina BGI-Wuhan Clinical Laboratories BGI-ShenzhenWuhan 430074HubeiChina SEBIA Representative Office Shanghai 200001China

Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan *** We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan *** screening was performed,and molecular parameters were *** The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-*** highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),***α-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in ***,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,*** Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan *** results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

关键词： Thalassemia Carrier rate Molecular spectrum Abnormal hemoglobin variants α-globin triplication