Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen ...Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen and poor ossification of the bones. The children with achondrogenesis are usually born premature, or die in the neonatal period mostly from respiratory failure. We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth. Methods: We report a case of achondrogenesis type II in a live male newborn. Results: We report the case of a term male infant delivered to a 24-year-old woman with a chondrogenesis type II confirmed radiologically but died at age 5 days. Conclusion: Whenever a skeletal dysplasia in a fetal dwarfism is suspected, a proper work-up plan should be done to evaluate family history. A clinical, radiographic and histopathologic examination, should be done and confirmed by genetic study. Following evidence-based diagnosis, patients could be offered termination of pregnancy after counseling.展开更多
目的探讨血浆N末端B型钠尿肽前体(N-terminal pro-B-type natriuretic peptide,NTproBNP)在预测中重度支气管肺发育不良(bronchopulmonary dysplasia,BPD)风险中的临床价值。方法采用前瞻观察性研究方法,选择2021年6月—2022年12月福建...目的探讨血浆N末端B型钠尿肽前体(N-terminal pro-B-type natriuretic peptide,NTproBNP)在预测中重度支气管肺发育不良(bronchopulmonary dysplasia,BPD)风险中的临床价值。方法采用前瞻观察性研究方法,选择2021年6月—2022年12月福建省妇幼保健院新生儿科收治的胎龄<30周极/超早产儿95例。分别于出生后第1、7、14、21天检测NTproBNP水平并收集住院期间基本资料,根据美国国家儿童健康与人类发展研究所(National Institute of Child Health and Human Development,NICHD)诊断标准,分为无-轻度BPD组(n=74)和中-重度BPD组(n=21)。比较2组不同时间点NTproBNP水平。结果中-重度BPD组胎龄、出生体质量均低于无-轻度BPD组(P<0.05);中-重度BPD组胎膜早破>18 h、≥3级新生儿呼吸窘迫综合征(respiratory distress syndrome,RDS)、有创机械通气时间>7 d、症状性动脉导管未闭(symptomatic patent ductus arteriosus,sPDA)、晚发型败血症、早产儿视网膜病(retinopathy of prematurity,ROP)的发生率均高于无-轻度BPD组,差异有统计学意义(P<0.05)。无-轻度BPD组NTproBNP水平在出生后第1天最高,中-重度BPD组NTproBNP水平在出生后第7天最高,随后逐渐降低。中-重度BPD组各时间点NTproBNP水平均高于无-轻度BPD组,差异有统计学意义(P<0.05)。出生后第1天NTproBNP水平为5631.52 pg/mL,是中重度BPD最佳预测参考值,受试者工作特征(receiver operating characteristic,ROC)曲线下面积为0.89(95%CI0.83~0.95),诊断准确性为85.71%。结论出生后第1天NTproBNP水平有助于早期预测中重度BPD发病风险,动态监测NTproBNP趋势可能对疾病防治提供一定参考价值。展开更多
文摘Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen and poor ossification of the bones. The children with achondrogenesis are usually born premature, or die in the neonatal period mostly from respiratory failure. We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth. Methods: We report a case of achondrogenesis type II in a live male newborn. Results: We report the case of a term male infant delivered to a 24-year-old woman with a chondrogenesis type II confirmed radiologically but died at age 5 days. Conclusion: Whenever a skeletal dysplasia in a fetal dwarfism is suspected, a proper work-up plan should be done to evaluate family history. A clinical, radiographic and histopathologic examination, should be done and confirmed by genetic study. Following evidence-based diagnosis, patients could be offered termination of pregnancy after counseling.
基金Research supported bythe National Natural Science Foundation of China(10971180)the Xuzhou Normal University 2010 Graduate Programs of Research and Innovation Plan(2010YLB020)
文摘目的探讨血浆N末端B型钠尿肽前体(N-terminal pro-B-type natriuretic peptide,NTproBNP)在预测中重度支气管肺发育不良(bronchopulmonary dysplasia,BPD)风险中的临床价值。方法采用前瞻观察性研究方法,选择2021年6月—2022年12月福建省妇幼保健院新生儿科收治的胎龄<30周极/超早产儿95例。分别于出生后第1、7、14、21天检测NTproBNP水平并收集住院期间基本资料,根据美国国家儿童健康与人类发展研究所(National Institute of Child Health and Human Development,NICHD)诊断标准,分为无-轻度BPD组(n=74)和中-重度BPD组(n=21)。比较2组不同时间点NTproBNP水平。结果中-重度BPD组胎龄、出生体质量均低于无-轻度BPD组(P<0.05);中-重度BPD组胎膜早破>18 h、≥3级新生儿呼吸窘迫综合征(respiratory distress syndrome,RDS)、有创机械通气时间>7 d、症状性动脉导管未闭(symptomatic patent ductus arteriosus,sPDA)、晚发型败血症、早产儿视网膜病(retinopathy of prematurity,ROP)的发生率均高于无-轻度BPD组,差异有统计学意义(P<0.05)。无-轻度BPD组NTproBNP水平在出生后第1天最高,中-重度BPD组NTproBNP水平在出生后第7天最高,随后逐渐降低。中-重度BPD组各时间点NTproBNP水平均高于无-轻度BPD组,差异有统计学意义(P<0.05)。出生后第1天NTproBNP水平为5631.52 pg/mL,是中重度BPD最佳预测参考值,受试者工作特征(receiver operating characteristic,ROC)曲线下面积为0.89(95%CI0.83~0.95),诊断准确性为85.71%。结论出生后第1天NTproBNP水平有助于早期预测中重度BPD发病风险,动态监测NTproBNP趋势可能对疾病防治提供一定参考价值。
