يعرض 1 - 10 نتائج من 16 نتيجة بحث عن '"杨慧霞"', وقت الاستعلام: 1.11s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المساهمون: 100034,北京大学第一医院儿科, 100083,北京大学医学部医学遗传学系, 100034,北京大学第一医院中心实验室, 100034,北京大学第一医院妇产科

    الوصف: 目的 对确诊的22例先天性肌营养不良(congenital muscular dystrophy,CMD)患儿进行临床特点总结,对先证者家庭进行遗传咨询,并对其23例再次妊娠的胎儿进行产前诊断.方法 分析2006年10月至2016年3月北京大学第一医院就诊的22例CMD患儿的病例资料.签署知情同意后,采集其中1 2例孕11~13周胎儿绒毛组织,及11例孕18~22周胎儿的羊水,提取基因组DNA,进行产前诊断.采用聚合酶链反应基因测序方法和多重连接探针扩增技术进行相关基因突变检测.采用短串联重复序列连锁分析鉴别是否有母血污染和胎儿生物学父母. 结果 (1)确诊的22例先证者中,1 3例为先天性肌营养不良1A型,均为LAMA2复合杂合突变.13例中,4例为野生型,7例为杂合子,2例携带与先证者相同复合杂合突变.(2)3例LMNA相关先天性肌营养不良先证者,均为LMNA新生突变,其中2例胎儿为野生型;1例胎儿携带与先证者相同致病突变,其母亲为突变嵌合体.(3)1例Ullrich先天性肌营养不良,为COL 6A2复合杂合突变,胎儿为野生型.(4)5例α-抗肌萎缩相关糖蛋白病,其中2例为肌-眼-脑病,为POMGn T1复合杂合突变,2例胎儿均为杂合子;1例为先天性肌营养不良1C型,为FKRP复合杂合突变,胎儿携带相同致病突变;1例为POMGnT1相关先天性肌营养不良伴智力障碍(congenital muscular dystrophywith mentalretardation,CMD-MR),为POMGnT1复合杂合突变,胎儿携带相同致病突变;1例为POMT1相关CMD-MR,为POMT1复合杂合突变,第1次产前诊断提示胎儿携带与先证者相同复合杂合致病突变,第2次产前诊断胎儿为杂合子. 结论 目前CMD尚无有效的治疗方法,需要对确诊的先证者家庭提供准确遗传咨询并进行有效的产前诊断,以期终止遗传链. ; Objective To summarize the clinical features of 22 probands diagnosed with congenital muscular dystrophy (CMD),and to provide genetic counseling and prenatal diagnosis for 23 fetuses of these pedigrees.Methods Data of 22 CMD patients who were treated in the Pediatric Department of Peking University First Hospital during October 2006 to March 2016 were analyzed.Informed written consents for participation in this study were obtained from the parents or guardians.Prenatal diagnosis was performed using DNA samples extracted from fetal villus cells of 12 cases at 11-13 gestational weeks and amniotic fluid of 11 cases at 18-22 gestational weeks.Direct DNA sequencing by polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) were used to detect CMD-related gene mutations.Linkage analysis of short tandem repeats (STRs) was used to identify maternal blood contamination and biological parents.Results Thirteen out of the 22 probands with CMD were diagnosed with congenital muscular dystrophy type 1 A (MDC1A),and all of them carried compound heterozygous mutations in LAMA2 gene.Prenatal diagnosis of 13 fetuses from these pedigrees found that four fetuses were wild-type,seven were heterozygotes ...

    العلاقة: 中华围产医学杂志. 2017, 20(9), 669-678.; 1933547; http://hdl.handle.net/20.500.11897/483361Test

  2. 2
    دورية أكاديمية

    المساهمون: 100034,北京大学第一医院儿科, 10003北京大学第一医院儿科, 10005首都医科大学附属北京天坛医院儿科, 100034,北京大学第一医院妇产科, 100034,北京大学第一医院实验中心

    الوصف: 目的 对2个基因诊断明确的伴皮层下囊肿的巨脑性白质脑病(megalencephalic leukoencephalopathy with subcortical cysts,MLC)家系进行遗传咨询和产前分子诊断. 方法 先证者1和2分别于2011年6月和2009年6月在北京大学第一医院儿科就诊,采集先证者及其父母外周静脉血提取基因组DNA,采用DNA测序技术进行MLC1基因检测.先证者之母再次妊娠后,分别通过羊膜腔穿刺(孕21周+4,胎儿1)和绒毛穿刺(孕12周+3,胎儿2)采集羊水及绒毛标本.提取胎儿基因组DNA,应用DNA直接测序技术检测胎儿是否具有与先证者一致的MLC1基因突变类型,并通过聚合酶链反应技术扩增Y染色体性别决定区以及X染色体微卫星标记(AR、DXS6807和DXS6797)进行单体型分析判断胎儿羊水/绒毛中是否有母体细胞污染.胎儿出生后进行验证及电话随访. 结果 先证者l和2具有大头、运动发育落后及典型MLC头颅MRI表现,符合MLC的临床诊断.先证者1MLC1基因检出c.353C>T(p.T118M)、c.803C>G (p.T268R)复合杂合突变;先证者2检出c.353C>T (p.T118M)和c.836T>C(p.L279P)复合杂合突变.均基因确诊MLC.胎儿1MLC1基因相应位点发现c.803C(野生型)和c.353C>T(p.T118M)杂合改变;胎儿2相应位点均为野生型(c.353C和c.836T).且胎儿基因组DNA均无母体细胞污染.胎儿1生后基因验证结果与产前诊断结果一致,5月龄时头围及生长发育均正常;胎儿2现生后1个月,无巨颅,尚未进行生后验证. 结论 检测胎儿基因组DNA是否具有与先证者相同的MLC1基因突变类型,可对基因诊断明确的MLC家庭提供准确的产前分子诊断.通过Y染色体性别决定区及3个X染色体微卫星标记进行单体型分析可有效判断胎儿基因组中是否存在母体细胞污染,有助于排除母体细胞污染对产前诊断结果的影响,保证产前诊断结果的可靠性. ; Objectives To provide genetic counseling and prenatal molecular diagnosis for two families with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Methods Two MLC patients (probands 1 and 2) were admitted to the Department of Pediatrics of Peking University First Hospital in June 2011 and June 2009,respectively.Peripheral blood was collected and DNA sequencing was performed for genetic analysis for the two MLC patients and their parents.Amniotic fluid and villus of two fetuses (fetus 1 and 2) were collected at 21+4 and 12+3 weeks of gestational age from their mothers when they were pregnant again.The genomic DNA of the two fetuses was extracted and corresponding sites of MLC1 gene were sequenced.Haplotype analysis using a combination of 3 microsatellite markers (AR,DXS6807 and DXS6797) on chromosome X and sex determining region of Y chromosome was performed to detect maternal cell contamination.Verification of the prenatal molecular diagnosis and follow up study after birth were conducted for both fetuses.Results Macrocephaly,motor development delay and typical findings on brain MRI were identified in the two probands,and were clinically diagnosed with ...

    العلاقة: 中华围产医学杂志. 2017, 20(3), 177-182.; 1912832; http://hdl.handle.net/20.500.11897/477195Test

  3. 3
    مؤتمر

    المؤلفون: 杨慧霞

    المساهمون: 北京大学第一医院妇产科

    المصدر: 知网

    الوصف: 近年来,我国产科在母体医学、胎儿医学及普通产科几方面取得巨大进步,孕产妇死亡率呈现明显下降,但产后出血仍然是目前导致我国孕、产妇死亡的首位原因,而且,因产后出血导致的孕产妇死亡大多数是可避免,值得深思。一、产科规范制定,促进产科与国际接轨产科学组成立后,组织全国专家撰写规范并推荐规范在临床实施,自2007年产科出 ; 中华医学会(Chinese Medical Association)、中华医学会妇产科学分会 ; 3

    العلاقة: 中华医学会第十一次全国妇产科学术会议.2015,3.; 1505157; http://hdl.handle.net/20.500.11897/454868Test

  4. 4
    دورية أكاديمية

    المؤلفون: 马京梅, 张秀慧, 杨慧霞

    المساهمون: 100034,北京大学第一医院妇产科, 美国贝勒医学院分子遗传实验室

    الوصف: 染色体核型分析在产前诊断中的应用由来已久,检测成本相对低廉,但逐渐难以满足临床效率质量要求。新兴染色体微阵列技术( CMA )能弥补核型分析缺点,在提高检出率的同时,可能解决上述矛盾。但若充分发挥CMA价值,仍需合理结合传统不同分辨率的核型分析技术。(中华检验医学杂志,2016,39:404-406) ; Karyotype analysis has been considered as the key tool for prenatal diagnosis .Although it is cost-effective, it has great challenge to meet the growing demand of efficiency and quality in clinical settings.To improve the effeiciency and detection quality , cytogenomic microarray analysis ( CMA ) is developed, with high detection rate.However, traditional karyotype analysis at different resolution should also be used as the reference for CMA . ; 中文核心期刊要目总览(PKU) ; 中国科技核心期刊(ISTIC) ; 中国科学引文数据库(CSCD) ; 6 ; 404-406 ; 39

    العلاقة: 中华检验医学杂志.2016,39(6),404-406.; 1449729; http://hdl.handle.net/20.500.11897/494683Test

  5. 5
    دورية أكاديمية

    المؤلفون: 李奎, 王爽, 陈静, 孙瑜, 杨慧霞

    المساهمون: 100034,北京大学第一医院妇产科, 10003北京大学第一医院妇产科, 07560河北省张家口市涿鹿县医院妇产科

    الوصف: 目的 探讨胎儿轻度侧脑室增宽的产前诊断及预后状况,为临床咨询及处理提供依据. 方法 回顾性分析2013年1月1日至201 5年5月31日于北京大学第一医院妇产科超声筛查提示胎儿侧脑室增宽,且经超声会诊确诊为胎儿侧脑室轻度增宽并成功进行结局追踪的病例共116例.统计胎儿头颅MRi检查及有创产前诊断的情况,并根据Gesell发育量表电话随访新生儿出生后生长发育情况.对数据资料采用描述性统计分析. 结果 88例孤立性轻度侧脑室增宽的病例中,48例(54.5%)接受了染色体检查或筛查,仅有1例染色体异常,为不平衡易位;随访到83例顺利分娩的孕妇,仅有l例婴幼儿(1.2%)出现生长发育迟缓、智力及运动发育均落后.28例非孤立性轻度侧脑室增宽病例中,17例(60.7%)接受染色体检查或筛查,均未见异常;在顺利分娩的1 8例中,1例染色体正常,但胎儿头颅MRi提示大脑发育不良,分娩后证实诊断,且婴儿生长发育迟缓;其余17例未发现异常. 结论 孤立性轻度侧脑室增宽者染色体异常概率较低.若孕期情况稳定,其新生儿预后良好.是否应该对于所有轻度侧脑室增宽的患者进行有创产前诊断,有待商榷. ; Objective To investigate the prenatal diagnosis and prognosis of fetuses with mild ventriculomegaly in order to provide evidence for clinical consultation and treatment.Methods The data of 116 mothers with fetal ventriculomegaly who received prenatal care in Peking University First Hospital between January 1,2013 and May 31,2015 were retrospectively analyzed.All cases of fetal ventriculomegaly were found by ultrasound screening,and were subsequently diagnosed by ultrasound consultation as mild ventriculomegaly.The results of fetal cerebral MRI and invasive prenatal diagnosis were analyzed and the growth and development of babies were followed up by telephone using the Gesell developmental scale.All data was analyzed by descriptive statistics.Results Of the 88 cases of solitary ventriculomegaly,48 (54.5%) received karyotype analysis or screening,and only one case was found to be abnormal,which was an unbalanced translocation.Of the 83 mothers with normal delivery,only one infant (1.2%) showed retardation of intelligence and motor development.Of the 28 cases of non-solitary ventriculomegaly,17 (60.7%) received karyotype analysis or screening,and no abnormalities were found.Of the 18 mothers with normal delivery,only one infant showed retardation of growth and development,and was found to have brain hypoplasia before delivery by MRI with normal karyotype.Conclusions The rate of abnormal karyotype in mild vetriculomegaly is very low in this study.The width of the lateral ventricles is stable during pregnancy and the prognosis of ...

    العلاقة: 中华围产医学杂志.2016,19(6),418-421.; 1444235; http://hdl.handle.net/20.500.11897/493880Test

  6. 6
    مؤتمر

    المساهمون: 北京大学第一医院儿科, 北京大学第一医院妇产科, 首都医科大学附属北京儿童医院

    المصدر: 知网

    مصطلحات موضوعية: 佩梅病, PLP1基因, 短串联重复序列, 产前诊断

    الوصف: 佩梅病(Pelizaeus-Merzbacher disease,PMD,OMIM 312080)是一种罕见的X连锁隐性遗传的脑白质弥漫性损害性疾病,临床表现以眼球振颤、进行性痉挛性截瘫、共济失调及精神运动发育迟缓为特征,头颅MRI具有脑白质髓鞘形成落后的异常信号改变。PMD的致病基因位于Xq22的蛋白脂蛋白(proteolipidprotein 1,PLP1,GenBankNM_000533),迄今国外已发现与PMD相关的PLP1基因突变大约128种(Human Gene Mutation Databases),主要有三种突变类型:重复突变、点突变与缺失突变,其中重复突变占PMD病人总数的5. ; 0

    العلاقة: 第十二次全国医学遗传学学术会议.; 789280; http://hdl.handle.net/20.500.11897/115450Test

  7. 7
    دورية أكاديمية

    المؤلفون: 马京梅, 杨慧霞

    المساهمون: 北京大学第一医院 妇产科,北京,100034

    الوصف: 胎儿医学作为一种快速新兴学科,将产科学、儿科学、外科学、影像学、遗传学、生物学、生物化学、伦理学等众多不同领域的学科有机结合在一起。临床上以母体医学为基础,将胎儿视为完整个体,从而给予全面的监测与管理[1-3]。近年来,随着医学临床转化日臻迅速,胎儿遗传检测技术不断发展,胎儿医学在诸多方面取得了长足发展,包括出生缺陷的筛查、诊断进而开展预防或治疗,多胎妊娠的管理等工作[4-6]。以出生缺陷防治工作为例,自20世纪90年代末至今,作为我国围产保健领域的重点,从科学研究到临床实践,乃至国家各级行政管理等都给予高度重视,从卫生经济学角度出发,贯彻三级预防理念,特别是在计划妊娠女性中,增补小剂量叶酸预防开放性神经管畸形发生[4],胎儿常见染色体异常(21号染色体三体综合征等)常规产前筛查和产前诊断。此外,胎儿结构畸形在出生缺陷中占有一定比例,高水平产前超声筛查技术水平能够及时诊断出胎儿结构异常,并进行适当干预。随着细胞分子产前诊断技术以及包括MRI在内的影像学检查水平的提高,产前诊断水平飞速发展,为进一步有效合理的早期胎儿宫内干预提供可能,并进一步改善胎儿近、远期预后。 ; 中国科技核心期刊(ISTIC) ; 8 ; 1-2,3

    العلاقة: 中国医刊.2015,(8),1-2,3.; 1343943; http://hdl.handle.net/20.500.11897/425240Test

  8. 8
    دورية أكاديمية

    المؤلفون: 张海燕, 陈俊雅, 孙瑜, 杨慧霞

    المساهمون: 北京大学第一医院 妇产科,北京100034, 河北省唐山市妇幼保健院 超声科,河北 唐山063000, 北京大学第一医院 妇产科,北京,100034

    الوصف: 目的:评价胎儿经腹脐静脉穿刺术的手术指征、方法及安全性。方法回顾性分析2012年1月至2014年12月在北京大学第一医院妇产科接受胎儿脐静脉穿刺术的303例病例的手术指征、方法及安全性。结果91.8%(278/303)的患者手术指征为明确胎儿染色体核型。其中胎儿患有明显畸形的病例中10.5%(16/153)染色体核型异常。10例手术指征为羊膜腔穿刺的染色体核型为嵌合型或有标记物,脐血穿刺术后3例染色体核型正常,7例与羊膜腔穿刺结果相符。92.4%(280/303)的孕妇穿刺一次成功。脐血穿刺术后胎儿的总流失率为1.32%(4/303),术后2周之内的流失率为0.99%(3/303),胎心过缓率为3.0%(10/303)。结论脐血穿刺术是一个较安全的产前诊断手术,其指征可为明确胎儿染色体核型。但是急需新的实验室方法来探讨胎儿畸形的遗传学改变。 ; Objective To value the indications , methods and safety of the cordocentisis . Method Between January 2012 and December 2014, 303 cordocenteses were performed in 303 women with singleton pregnancy in the Peking University First Hospital . A 22-gauge percutaneous needle was used to puncture the umbilical vein at the relatively fixed position with the “free-armed” method. Result 91. 8%(278/303) procedures were performed to identify the fetal karyotype. But only 10. 5% (16/153)of the karyotypes of the fetuses with obvious abnormalities are abnormal. Three cases whose chromosomal karyotypes were mosaics by amniocentesis had normal karyotypes by cordocentesis. 92. 4%(280/303) cases just needed one puncture. The gross fetal loss rate after cordocentesis was 1. 32%(4/303), and the fetal loss rate in two weeks was 0. 99%(3/303), the fetal bradycardia rate was 3. 0%(10/303). Conclusion Cordocentesis is a relatively safe prenatal surgery. The most important indications for the procedure should be the diagnosis and treatment for fetal anemia, and the identification for the karyotypes of the fetuese with chromosomal mosaic by amniocentesis, as well as the chromosome karyotype analysis. But new laboratory methods should be performed to investigate the genetic anomalies for the fetuses with structural abnormalities. ; 中国科技核心期刊(ISTIC) ; 7 ; 32-35,36

    العلاقة: 中国医刊.2015,(7),32-35,36.; 1313719; http://hdl.handle.net/20.500.11897/420764Test

  9. 9
    دورية أكاديمية

    المؤلفون: 马京梅, 杨慧霞

    المساهمون: 北京大学第一医院妇产科

    المصدر: 知网 ; CSCD

    الوصف: 1价值医学的临床意义价值医学(value-based medicine)是指需评价医疗干预手段的优劣时,往往需要以患者的价值取向和实际付出的经济成本作为考量依据,并据此不断改进医疗实践,“价值”的体现是通过利用现有支出,最大限度地获取医疗干预有益结局。卫生经济学研究正是基于已有证据,兼顾经济效益和医疗价值,对可利用的资源提供高质量的医疗决策和有效公平的医疗服务,最大限度满足患者需求。评价指标包括成本效果分析、成本效益分析和成本效用分析,这些指标为“循证医学”提供重要依据。 ; 中文核心期刊要目总览(PKU) ; 中国科技核心期刊(ISTIC) ; 中国科学引文数据库(CSCD) ; 9 ; 788-790 ; 31

    العلاقة: 中国实用妇科与产科杂志.2015,31(9),788-790.; 1286074; http://hdl.handle.net/20.500.11897/414205Test

  10. 10
    دورية أكاديمية

    المؤلفون: 马京梅, 潘虹, 付杰, 于丽, 王玲, 冯慧, 杨慧霞

    المساهمون: 100034,北京大学第一医院妇产科

    الوصف: 目的 探讨单基因病产前诊断方式的变化趋势及多学科合作模式在其中的作用.方法 北京大学第一医院于2012年1月1日建立了单基因病产前诊断多学科合作模式,涵盖了儿科、神经内科、皮肤科、妇产科及中心实验室等多个学科.所有以“单基因病家族史”而要求产前诊断的孕妇,先证者均在相关科室明确分子诊断,再次妊娠时转诊至产科进行产前诊断及妊娠期管理与随访.该模式自建立以来至2014年12月31日,在6 681例产前诊断病例中,以“单基因病家族史”为指征者共279例,其中76例于妊娠11~14周行绒毛活检术,203例于妊娠16~22周行羊膜腔穿刺术进行产前诊断.采用x2检验分析以“单基因病家族史”作为产前诊断指征的变化趋势及绒毛活检术的安全性. 结果 6 355例选择羊膜腔穿刺术进行产前诊断的孕妇中,以“单基因病家族史”为指征者共203例,占3.2%(203/6 355).在2012(2.3%,47/2 054)、2013(3.9%,78/2 023)和2014年度(3.4%,78/2 278)保持平稳,2014年度与2013年度差异无统计学意义(x2=0.571,P=0.463).326例选择绒毛活检术进行产前诊断的孕妇中,以“单基因病家族史”为指征者共76例,占23.3% (76/326),其中2012年度以“单基因病家族史”为指征者占18.2%(8/44),201 3年度占17.6%(19/108),到2014年度上升至28.2%(49/174),明显高于2013年度(x2=4.067,P=0.046).在2012、2013和2014年度,“单基因病家族史”在绒毛活检术产前诊断指征中的构成比均高于行羊膜腔穿刺术孕妇(x2值分别为42.626、44.531和201.400,P值均为0.000).279例以“单基因病家族史”为产前诊断指征孕妇中,1例孕妇于绒毛活检术后6个月发生不明原因胎死宫内,余均未出现近、远期并发症和不良妊娠结局;但其中检出3例胎儿细胞核型异常,1例18 三体和2例45,X单体嵌合46,XY,其中1例45,X单体嵌合46,XY胎儿妊娠16~22周羊水细胞核型分析证实核型正常. 结论 单基因病是产前诊断的重要指征之一,通过妊娠早期绒毛活检能够尽早得到产前诊断结果.多学科合作模式有助于单基因病的产前诊断. ; Objective To evaluate the trend in prenatal diagnosis of single gene disorders (SGD) and role ofmultidisciplinary cooperative mode.Methods In January l,2012,amultidisciplinarycooperativemode for SGD diagnosis was established in the Peking University First Hospital,involving Departments of Obstetrics,Pediatrics,Neurology,Dermatology and Central Laboratory.For each pregnant woman with a family history of SGD for prenatal diagnosis,propositus should be diagnosed in the relevant departments,and then further diagnosed,managed and followed up by the Obstetrics Department.Up to December 31,2014,of 6 681 women for prenatal diagnosis,279 women had a family history of SGD:76 of them received chorionic villus sampling (CVS) at 11-14 gestational weeks,and 203 received amniocentesis (AC) at 16-22 gestational weeks.The trend in SGD diagnosis and the safety of CVS and AC were analyzed using Chi-square test.Results The proportion of SGD family history in AC group was 3.2% (203/6 355),which stayed stable with 2.3% (47/2 054) in 2012,3.9% (78/2 023) in 2013 and 3.4% (78/2 278) ...

    العلاقة: 中华围产医学杂志.2015,18,(3),176-181.; 1148863; http://hdl.handle.net/20.500.11897/122624Test