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1.
Larsen综合征是一种先天性结缔组织发育异常性疾病,在新生儿中发生率非常低,大约为1:100 000.1950年,由Larsen等[1]首次描述并冠名.Larsen综合征主要表现为先天性多个大关节脱位(包括髋、膝和肘关节脱位)、马蹄内翻足畸形及特征性的异常面容(如前额突出、鼻梁扁平等)[2-3];其他异常如铲形手指、腭裂、身材矮小、听力损伤等;有些可合并脊柱异常,包括脊柱侧弯和颈椎后凸畸形.其诊断多数为出生后诊断,产前诊断仅有个案报道.本文报告1例产前诊断的、无家族史的Larsen综合征胎儿,胎儿娩出后的临床检查和分子分析进一步证实了诊断. 相似文献
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目的比较正常妊娠结局和胚胎停育孕妇的早孕期孕酮水平,并随访早孕期孕激素补充治疗的安全性。方法回顾性分析了2015年1月至2月在北京协和医院分娩的144例孕妇的孕期资料,并与同期行孕酮检测的53例胚胎停育患者的病例资料进行比较,统计分析了早孕期孕酮的参考范围及影响因素;对接受孕激素治疗患者试图评估其安全性。结果正常妊娠人群的早孕期孕酮正常低限为11 ng/ml,孕酮水平与患者的年龄、甲状腺功能、是否合并糖尿病、是否有先兆流产症状、孕周并未发现相关性。胚胎停育患者孕酮水平与正常妊娠孕妇无显著差别,但发生胚胎停育近期监测的孕酮水平可有明显下降。使用孕激素治疗可能与胎盘粘连有关。结论亟需建立早孕期孕酮的正常参考范围以规范对孕酮水平的解释;需关注孕激素补充治疗与胎盘粘连的相关性。 相似文献
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Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy. 相似文献
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库欣综合征(Cushing's syndrome,CS)是皮质醇过度分泌导致的临床综合征.由于高雄激素和高皮质醇对垂体释放促性腺激素的抑制,导致CS患者多有排卵障碍及不孕,故CS合并妊娠罕见.自1953年McConahey报道首例至今,全球仅有150例相关报道[1].现报告我院诊治的1例CS合并妊娠. 相似文献
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Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy. 相似文献
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Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy. 相似文献
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目的 研究足月妊娠引产时应用地诺前列酮(普贝生)延长放药时间最长至24小时的疗效及其不良反应.方法 对2007年1月1日至2008年12月31日使用普贝生引产的足月孕妇的病历资料进行回顾性分析,其中12小时内未取药未临产的患者160例作为研究对象,对12小时取出药物者(A组,52例)与继续放药最长至24小时者(B组,108例)进行比较,包括:基本情况、临床疗效(主要包括阴道分娩率、宫颈评分改善情况、催产素使用率).结果 两组基本情况比较差异无统计学意义.在放药12小时未临产且无其他取药指征的产妇中,进一步延长放药时间最长至24小时能显著改善宫颈评分,提高临产率,降低催产素的使用率,最终提高阴道分娩率.而母儿并发症的发生率无显著增加.延长普贝生放药时间提高引产成功率的主要原因在于有许多产妇在放药的12~24小时内发生临产.结论 普贝生用于足月妊娠引产时,如12小时未临产,延长放药时间可以进一步改善宫颈评分、增加阴道分娩率、降低催产素的使用率,且不增加母儿并发症. 相似文献