About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesi...About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, susceptibility & modulation of disease. Advances in genetics, introduction of triple marker screening, routine obstetric ultrasound examination into obstetric practice & accesses to prenatal diagnosis helped in secondary prevention (early detection & termination) of lethal developmental defects. Ultrasound detection of fetal developmental defects/malformation is common now and often decision on pregnancy solely based on ultrasonic morphological description. This practice leads to difficulty in providing accurate counseling as well as preventing disorder in subsequent pregnancy, in particular early. Hence an understanding of reproductive genetics of major developmental disorders is important for today’s perinatal care specialists. This overview will outline the various lethal developmental defects observed in an advanced reproductive genetics set up and various approaches adopted to derive diagnosis. Detailed assessment of fetus after termination of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most cases. As most cases was referred after termination in formalin routine chromosomal analysis was not possible however, in selected cases targeted FISH analysis with specific chromosomal probe was carried out to confirm clinical diagnosis. Detailed evaluation of fetus is important as this practice often helped in modification of genetic counseling, as well as course of management in the next pregnancy. No molecular diagnostic or screening work was carried out due to non availability of information and facility in past. However, this is important today as many of the lethal developmental defects are yet to be categorized etiopathologically, and hence immediate need is to start clinical registry along with biorepository of developmental defects cases for future research work on informative families, in particular with multiple affected fetuses/sibs, using genomics, proteomics, metabolomics, platforms.展开更多
文摘目的观察Thera-Band渐进抗阻训练对发育性髋关节发育不良术后患儿下肢功能的疗效。方法 2014年1月—2015年6月在上海交通大学医学院附属新华医院康复医学科就诊的发育性髋关节发育不良患儿中,选择29例术后6周的患儿,按就诊顺序分为两组:观察组14例(20髋)接受包括Thera-Band渐进抗阻训练在内的康复治疗;对照组15例(20髋)接受常规康复治疗。患儿入组后分别于治疗前、治疗1个月和治疗3个月后评估患儿屈髋肌、伸髋肌、髋外展肌、伸膝肌肌力及髋关节活动度;于治疗前、治疗3个月后,使用表面肌电图仪评估患儿股直肌、臀大肌和臀中肌表面肌电信号均方根值(root mean square,RMS)的变化。结果观察组与对照组患儿髋关节活动度、肌力(屈髋肌、伸髋肌、髋外展肌和伸膝肌)、RMS值(股直肌、臀大肌和臀中肌)治疗前差异无统计学意义(P>0.05);治疗1个月、3个月后,患儿髋关节活动度、肌力均显著高于治疗前(P<0.01)。在各观察时间点,两组间髋关节活动度差异无统计学意义(P>0.05);治疗1个月后,伸髋肌和髋外展肌和伸膝肌肌力观察组高于对照组(P<0.05);治疗3个月后,伸髋肌和髋外展肌肌力观察组显著高于对照组(P<0.01),屈髋肌和伸膝肌肌力观察组高于对照组(P<0.05);治疗3个月后,两组各肌肉RMS值均显著高于治疗前(P<0.01),观察组股直肌平均RMS值高于对照组(P<0.05),观察组臀大肌和臀中肌平均RMS值显著高于对照组(P<0.01)。结论 Thera-Band渐进抗阻训练有助于改善发育性髋关节发育不良术后患儿下肢功能。
文摘About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, susceptibility & modulation of disease. Advances in genetics, introduction of triple marker screening, routine obstetric ultrasound examination into obstetric practice & accesses to prenatal diagnosis helped in secondary prevention (early detection & termination) of lethal developmental defects. Ultrasound detection of fetal developmental defects/malformation is common now and often decision on pregnancy solely based on ultrasonic morphological description. This practice leads to difficulty in providing accurate counseling as well as preventing disorder in subsequent pregnancy, in particular early. Hence an understanding of reproductive genetics of major developmental disorders is important for today’s perinatal care specialists. This overview will outline the various lethal developmental defects observed in an advanced reproductive genetics set up and various approaches adopted to derive diagnosis. Detailed assessment of fetus after termination of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most cases. As most cases was referred after termination in formalin routine chromosomal analysis was not possible however, in selected cases targeted FISH analysis with specific chromosomal probe was carried out to confirm clinical diagnosis. Detailed evaluation of fetus is important as this practice often helped in modification of genetic counseling, as well as course of management in the next pregnancy. No molecular diagnostic or screening work was carried out due to non availability of information and facility in past. However, this is important today as many of the lethal developmental defects are yet to be categorized etiopathologically, and hence immediate need is to start clinical registry along with biorepository of developmental defects cases for future research work on informative families, in particular with multiple affected fetuses/sibs, using genomics, proteomics, metabolomics, platforms.
