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Advances in clinical management of pregnant women with preexisting diabetes 妊娠期糖尿病患者的临床治疗进展
Q4 Medicine Pub Date : 2020-02-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.02.008
Qianqian Xu, Huixia Yang
Pregnant women with preexisting diabetes have increased adverse maternal and neonatal outcomes. Preconception planning is necessary for avoiding unintended pregnancies and mitigating risk of congenital defects. The recommended glycosylated hemoglobin goals are <6.5% before conception and <6.0% during pregnancy. Screening and management for diabetic complications are critical, strict blood pressure control goal need to be achieved, especially for those complicated by nephropathy. Continuous glucose monitoring during pregnancy might help improve blood glucose control for women with type 1 diabetes. Insulin is still the first-line therapy for pregnant women with preexisting diabetes. Optimization of glycemic control, appropriate medication regimens and close attention to comorbidities can help minimize the maternal and neonatal adverse outcomes and ensure the quality of clinical management for women with preexisting diabetes before, during, and after pregnancy. Key words: Diabetes, gestational; Preconception care; Prenatal care; Postnatal care; Patient care; Clinical protocols
既往存在糖尿病的孕妇的不良产妇和新生儿结局增加。孕前计划对于避免意外怀孕和减轻先天性缺陷的风险是必要的。建议的糖化血红蛋白目标是孕前<6.5%,孕期<6.0%。糖尿病并发症的筛查和管理是至关重要的,需要达到严格的血压控制目标,特别是对于合并肾病的患者。怀孕期间持续的血糖监测可能有助于改善1型糖尿病妇女的血糖控制。对于已有糖尿病的孕妇来说,胰岛素仍然是一线治疗方法。优化血糖控制、适当的用药方案和密切关注合并症有助于最大限度地减少孕产妇和新生儿不良结局,并确保孕前、孕期和产后糖尿病妇女的临床管理质量。关键词:糖尿病;妊娠期;孕前保健;产前护理;产后护理;病人护理;临床协议
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引用次数: 0
Epigenetic mechanisms of bronchopulmonary dysplasia: a review 支气管肺发育不良的表观遗传机制综述
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.011
Peijuan Chen, Zhiting Wan, Bao-huan Cai, Wenbin Li
Bronchopulmonary dysplasia (BPD) is a common chronic respiratory complication in preterm infants without fully understand the mechanism or effective treatment, which could significantly affect the survival rate and prognosis of these infants. Studies have confirmed that epigenetic mechanisms, including histone modification, non-coding RNA and DNA methylation may play an essential role in the onset and development of BPD. And most related epigenetic changes are reversible, which might serve as a potential target for BPD treatment. Therefore, further studies on epigenetics will shed light on a better understanding of the pathogenesis, prevention, and treatment of BPD. Key words: Bronchopulmonary dysplasia; Epigenomics; Histone code; RNA, untranslated; DNA methylation
支气管肺发育不良(BPD)是早产儿常见的慢性呼吸道并发症,在不完全了解其发病机制或有效治疗的情况下,可能会严重影响这些婴儿的生存率和预后。研究证实,表观遗传学机制,包括组蛋白修饰、非编码RNA和DNA甲基化,可能在BPD的发病和发展中发挥重要作用。大多数相关的表观遗传学变化是可逆的,这可能是BPD治疗的潜在靶点。因此,对表观遗传学的进一步研究将有助于更好地了解BPD的发病机制、预防和治疗。关键词:支气管肺发育不良;表观基因组学;直方图编码;RNA,未翻译;DNA甲基化
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引用次数: 0
Laparoscopy in the gynecological acute abdomen in pregnancy 妊娠期妇科急腹症的腹腔镜检查
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.010
Yaping Duan, Yangyang Shi, Ruixi Zhan, L. Yin
Acute abdomen in pregnancy can be divided into pregnancy-related and non-pregnancy-related type. This article reviewed the different types of acute abdomen caused by gynecological problems during pregnancy. Also, the progress of laparoscopic surgical technique and the perioperative management and the influence of the operation on pregnancy outcomes in patients who developed acute abdomen and underwent laparoscopic surgery in pregnancy were also analyzed, to provide information for the application of emergency laparoscopic surgery in pregnancy. Key words: Abdomen, acute; Pregnancy complications; Laparoscopy
妊娠急腹症可分为妊娠相关型和非妊娠相关型。本文综述了妊娠期妇科问题引起的不同类型急腹症。此外,还分析了腹腔镜手术技术和围手术期管理的进展,以及手术对妊娠期急腹症患者妊娠结局的影响,为紧急腹腔镜手术在妊娠期的应用提供信息。关键词:腹部,急性;妊娠并发症;腹腔镜检查
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引用次数: 1
First-trimester chorionic villus sampling: genetic analysis of 985 cases 妊娠早期绒毛膜绒毛取样:985例遗传分析
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.002
Yu-long Tong, H. Pan, Kaiping Wei, Jie Fu, Li Yu, Huixia Yang
Objective To investigate the value and safety of first-trimester chorionic villus sampling (CVS) in prenatal diagnosis. Methods This study retrospectively analyzed the clinical data of 985 cases undergoing CVS and prenatal diagnosis with karyotyping and fluorescence in situ hybridization (FISH) in the Department of Obstetrics and Gynecology of Peking University First Hospital from January 2012 to December 2017. The success rate of cell culture, indications for prenatal diagnosis, karyotyping results, and complications of CVS were described. Results Among the 985 cases, 970 (98.48%) underwent FISH and 893 (90.66%) received karyotyping, and 878 (89.14%) accepted both. After CVS, the success rate of cell culture was 96.64% (863/893). Abnormal ultrasonographic findings (42.64%, 420/985) were the most common indications for prenatal diagnosis. In this study, 181 cases of chromosomal abnormalities were detected, including numerical and structural abnormalities, accounting for 18.38% of all 985 cases. Those cases with abnormal ultrasonographic images had the highest detection rate of chromosomal abnormalities (31.90%, 134/420), followed by those with adverse pregnant history (11.83%, 20/169) and advanced maternal age (8.21%, 11/134). In addition, there was a discrepancy between karyotyping and FISH results, which might due to 16 cases of placental mosaicism and 13 cases of maternal cell contamination (MCC). Embryonic demises were reported in six cases (0.61%, 6/985), including four with chromosomal numerical abnormalities within four weeks after CVS. No other short- or long-term postoperative complications were found in the rest 979 cases (99.39%). Conclusions CVS in the first trimester is a safe and reliable invasive method for prenatal diagnosis, which can help to obtain an earlier diagnosis in a certain population such as those with abnormal ultrasonographic findings, thus improve the pertinence and efficiency of prenatal diagnosis. However, the potential influences of placental mosaicism and MCC on the diagnostic results should not be ignored. Key words: Chorionic villi sampling; Prenatal diagnosis; Chromosome aberrations; Pregnancy trimester, first
目的探讨孕早期绒毛取样(CVS)在产前诊断中的价值和安全性。方法回顾性分析2012年1月至2017年12月北京大学第一医院妇产科985例经CVS及核型分析和荧光原位杂交(FISH)产前诊断的临床资料。介绍了细胞培养的成功率、产前诊断的指征、核型分析结果和CVS的并发症。结果985例中,970例(98.48%)接受了FISH,893例(90.66%)接受了核型分析,878例(89.14%)接受了两者。CVS后,细胞培养成功率为96.64%(863/893)。超声检查异常(42.64%,420/985)是最常见的产前诊断指征。在这项研究中,共检测到181例染色体异常,包括数量和结构异常,占全部985例的18.38%。超声图像异常的患者染色体异常检出率最高(31.90%,134/420),其次是有不良妊娠史的患者(11.83%,20/169)和高龄产妇(8.21%,11/134)。此外,核型分析和FISH结果之间存在差异,这可能是由于16例胎盘嵌合体和13例母体细胞污染(MCC)。据报道,有6例(0.61%,6/985)发生胚胎性白血病,其中4例在CVS后四周内出现染色体数量异常。其余979例(99.39%)未发现其他短期或长期的术后并发症。结论孕早期CVS是一种安全可靠的有创产前诊断方法,有助于在超声检查异常等人群中获得早期诊断,从而提高产前诊断的针对性和效率。然而,不应忽视胎盘嵌合体和MCC对诊断结果的潜在影响。关键词:绒毛取样;产前诊断;染色体畸变;妊娠三个月,第一次
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引用次数: 0
Clinical characteristics and risk factors of congenital choledochal cysts 先天性胆总管囊肿的临床特点及危险因素分析
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.003
Jingzi Xiao, Yang Yang, Yingcong Xiang, Peng Li, Chengchao Lyu, Baisha Huang, Long Cen, Penghui Han
Objective To investigate the clinical characteristics and risk factors of congenital choledochal cysts (CCC). Methods This retrospective study recruited 52 cases who were antenatally diagnosed with CCC and underwent surgical treatment after birth in Guangdong Women and Children Hospital from January 2013 to August 2018, with complete clinical data. According to the enlargement of cysts during pregnancy, they were divided into two groups: progressive group (≥15 mm, 22) and stable group (<15 mm, 30). Antenatal and postpartum ultrasound and MRI features of the two groups were analyzed. Clinical manifestations and biochemical examination results before and after operation were compared between the two groups. Other data, including amylase level in cyst fluid during operation, cholangiography findings, liver biopsy results, and post-operation follow-up, were also analyzed. Chi-square test, t (t') test, and Pearson correlations tests were performed for data analysis. Results (1) The average age of the 52 patients at operation was 46(7-822) d. The cysts of all cases were first detected during 19-21 weeks of gestation. The maximum diameter of the cyst in the progressive group was larger than that in the stable group after 34 weeks of pregnancy [31-34 weeks: (31.1±8.4) vs (23.1±6.6) mm, t=3.911; >34 weeks: (36.1±6.8) vs (27.1±7.3) mm, t=4.557; pre-operation: (51.8±18.0) vs (34.0±15.6) mm, t=3.809; all P<0.01]. (2) In the progressive group, the cysts were irregular in shape and enlarged after birth. The common hepatic duct and intrahepatic bile duct were dilated and gradually distended after birth, while the distal end of the common bile duct was narrowed, thus to form a cone-like duct. Deposits could be seen inside the cysts after delivery. Irregular cysts were also presented in the stable group, and five of them had dilatation of common hepatic duct and intrahepatic bile duct after birth. However, no cone-like formation was seen, the distal end of the common bile duct was visible, and deposits in cysts were occasionally found. (3) Twenty-five patients underwent laparotomy, and seven of them showed increased amylase level in cyst fluid including four with 2-5 times above the upper limit of normal value (one in the progressive group and three in the stable group). The other three cases were all in the stable group and their amylase levels in cyst fluid were more than ten times of the upper limit. The level of direct bilirubin in the progressive group was higher than that in the stable group before the operation [18.40(2.50-113.30) vs 8.70(0.00-16.80) μmol/L, u=2.400, P<0.05]. (4) Among the 52 cases, patients with type Ⅰ, Ⅳ and Ⅴ cyst accounted for 71.1% (37/52), 26.9% (14/52) and 2.0% (1/52), respectively. All cases were followed up regularly six months to one year after the operation. Liver function and bilirubin became normal and the growth and development of the babies were similar to those of the same age. (5) Different degrees of liver fi
目的探讨先天性胆总管囊肿(CCC)的临床特点及危险因素。方法回顾性研究2013年1月至2018年8月广东省妇幼医院产前诊断为CCC并在出生后接受手术治疗的52例患者,临床资料完整。根据妊娠期囊肿肿大情况分为进展组(≥15 mm, 22例)和稳定组(34周:(36.1±6.8)vs(27.1±7.3)mm, t=4.557;术前:(51.8±18.0)vs(34.0±15.6)mm, t=3.809;所有P < 0.01)。(2)进展组囊肿形状不规则,出生后囊肿增大。出生后肝总管和肝内胆管扩张并逐渐扩张,而胆总管远端变窄,形成锥形胆管。分娩后,囊肿内可见沉积物。稳定组也出现不规则囊肿,其中5例出生后出现肝总管及肝内胆管扩张。但未见锥形形成,胆总管远端可见,偶见囊肿内沉积。(3) 25例患者剖腹手术,7例患者囊液淀粉酶水平升高,其中4例高于正常值上限2-5倍(进展组1例,稳定组3例)。其余3例均为稳定组,囊肿液淀粉酶水平均高于上限10倍以上。术前进展组直接胆红素水平高于稳定组[18.40(2.50 ~ 113.30)vs 8.70(0.00 ~ 16.80) μmol/L, u=2.400, P<0.05]。(4) 52例中,Ⅰ型、Ⅳ型和Ⅴ型囊肿患者分别占71.1%(37/52)、26.9%(14/52)和2.0%(1/52)。术后6个月至1年定期随访。肝功能和胆红素恢复正常,婴儿的生长发育与同龄儿童相似。(5)进展组46例(88.5%)患儿出现不同程度的肝纤维化和炎症,年龄较大的患儿更为严重。稳定组的手术时间与肝纤维化和炎症的严重程度无关。进展组肝纤维化及炎症较稳定组严重(肝纤维化分级:χ2=14.260, P=0.006;炎症活动度分级:χ2=9.904, P=0.019)。结论产前检查胆囊直径较大(≥30mm)或妊娠期胆囊直径明显增大(≥15mm)是出生后早期胆总管远端狭窄或闭塞的危险因素,需要密切随访。当出现黄疸或肝功能异常,大便颜色变浅时,建议早期手术治疗(出生后1 ~ 2个月,一般在3个月内),排除胰胆管异常连及肝脏疾病,以及胆囊胆道闭锁。关键词:胆总管囊肿;产前超声;风险因素
{"title":"Clinical characteristics and risk factors of congenital choledochal cysts","authors":"Jingzi Xiao, Yang Yang, Yingcong Xiang, Peng Li, Chengchao Lyu, Baisha Huang, Long Cen, Penghui Han","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.003","url":null,"abstract":"Objective \u0000To investigate the clinical characteristics and risk factors of congenital choledochal cysts (CCC). \u0000 \u0000 \u0000Methods \u0000This retrospective study recruited 52 cases who were antenatally diagnosed with CCC and underwent surgical treatment after birth in Guangdong Women and Children Hospital from January 2013 to August 2018, with complete clinical data. According to the enlargement of cysts during pregnancy, they were divided into two groups: progressive group (≥15 mm, 22) and stable group (<15 mm, 30). Antenatal and postpartum ultrasound and MRI features of the two groups were analyzed. Clinical manifestations and biochemical examination results before and after operation were compared between the two groups. Other data, including amylase level in cyst fluid during operation, cholangiography findings, liver biopsy results, and post-operation follow-up, were also analyzed. Chi-square test, t (t') test, and Pearson correlations tests were performed for data analysis. \u0000 \u0000 \u0000Results \u0000(1) The average age of the 52 patients at operation was 46(7-822) d. The cysts of all cases were first detected during 19-21 weeks of gestation. The maximum diameter of the cyst in the progressive group was larger than that in the stable group after 34 weeks of pregnancy [31-34 weeks: (31.1±8.4) vs (23.1±6.6) mm, t=3.911; >34 weeks: (36.1±6.8) vs (27.1±7.3) mm, t=4.557; pre-operation: (51.8±18.0) vs (34.0±15.6) mm, t=3.809; all P<0.01]. (2) In the progressive group, the cysts were irregular in shape and enlarged after birth. The common hepatic duct and intrahepatic bile duct were dilated and gradually distended after birth, while the distal end of the common bile duct was narrowed, thus to form a cone-like duct. Deposits could be seen inside the cysts after delivery. Irregular cysts were also presented in the stable group, and five of them had dilatation of common hepatic duct and intrahepatic bile duct after birth. However, no cone-like formation was seen, the distal end of the common bile duct was visible, and deposits in cysts were occasionally found. (3) Twenty-five patients underwent laparotomy, and seven of them showed increased amylase level in cyst fluid including four with 2-5 times above the upper limit of normal value (one in the progressive group and three in the stable group). The other three cases were all in the stable group and their amylase levels in cyst fluid were more than ten times of the upper limit. The level of direct bilirubin in the progressive group was higher than that in the stable group before the operation [18.40(2.50-113.30) vs 8.70(0.00-16.80) μmol/L, u=2.400, P<0.05]. (4) Among the 52 cases, patients with type Ⅰ, Ⅳ and Ⅴ cyst accounted for 71.1% (37/52), 26.9% (14/52) and 2.0% (1/52), respectively. All cases were followed up regularly six months to one year after the operation. Liver function and bilirubin became normal and the growth and development of the babies were similar to those of the same age. (5) Different degrees of liver fi","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"8-17"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48447047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical features and molecular genetic analysis of congenital lipoid adrenal hyperplasia caused by steroidogenic acute regulatory protein gene mutation 甾体源性急性调节蛋白基因突变致先天性肾上腺脂质增生症的临床特点及分子遗传学分析
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.004
W. Xiu, Yueqing Su, Changyi Yang
Objective To investigate the clinical and molecular genetic features of neonatal congenital lipoid adrenal hyperplasia (CLAH) caused by mutations in steroidogenic acute regulatory protein (StAR) encoding gene. Methods This study retrospectively analyzed the clinical data of a CLAH neonate admitted to Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University in April 2017. StAR gene was analyzed using high-throughput sequencing and Sanger sequencing. Relevant literature retrieved from databases including China National Knowledge Infrastructure (CNKI), Wanfang and PubMed were reviewed, and the reported cases with relatively complete clinical data and results of serum hormone test and StAR gene mutation analysis were collected. Results The index patient presented with hyperpigmentation and growth retardation soon after birth. Laboratory tests revealed hyponatremia, hyperkalemia, increased serum adrenocorticotrophic hormone (263.4 pmol/L) and decreased 17-hydroxyprogesterone (0.16 ng/ml), dehydroepiandrosterone (<0.95 μmol/L), androstenedione (<1.0 nmol/L), testosterone (<0.025 ng/ml), progesterone (0.02 ng/ml) and cortisol (1.6 μg/ml). High-throughput sequencing showed that the patient carried a compound heterozygous mutation of p.Thr240fs in exon 6 and p.Gln258X in exon 7, inherited from the father and mother, respectively. Sanger sequencing confirmed the diagnosis of CLAH caused by StAR gene mutation. After steroid replacement therapy, the patient's symptoms resolved and the concentrations of electrolytes returned to normal. The neonate was followed up to two years of age and no abnormality was found in physical or neurological development. Two Chinese and 11 English publications were retrieved and altogether 96 cases of neonatal CLAH, including the index one, were reviewed and 42 of them had detailed clinical data. The most common clinical manifestations were skin pigmentation (85.7%, 36/42). Other manifestations included vomiting (35.7%, 15/42) and growth retardation (14.3%, 6/42). All patients with physical examination records had female external genitalia (100.0%, 35/35). The common laboratory abnormalities included hyponatremia (95.2%, 40/42), hyperkalemia (88.1%, 37/42), elevated serum adrenocorticotrophic hormone (100.0%, 37/37) and decreased 17-hydroxyprogesterone (90.5%, 19/21), cortisol (86.2%, 25/29), testosterone (9/10) and dehydroepiandrosterone (14/14). p.Gln258X was the most common StAR gene mutation in neonates in Eastern Asia, including China. Most cases had a good prognosis after appropriate steroid replacement. Conclusions CLAH should be considered for neonates with adrenocortical hypofunction, especially with female phenotypes and low 17-hydroxyprogesterone. Karyotyping and StAR gene analysis may be helpful in diagnosis. Timely and appropriate treatment could improve the prognosis. Key words: Adrenal hyperplasia, congenital; 46, XY Disorders of sex development
目的探讨由类固醇生成性急性调节蛋白(StAR)编码基因突变引起的新生儿先天性类脂性肾上腺增生症(CLAH)的临床和分子遗传学特征。方法回顾性分析2017年4月福建医科大学附属医院福建省妇幼医院收治的1例CLAH新生儿的临床资料。StAR基因采用高通量测序和Sanger测序进行分析。综述了从中国知网、万方、PubMed等数据库检索到的相关文献,收集了临床资料和血清激素检测及StAR基因突变分析结果相对完整的报告病例。结果指标患者出生后不久出现色素沉着和生长迟缓。实验室测试显示,低钠血症、高钾血症、血清促肾上腺皮质激素(263.4 pmol/L)增加,17-羟基孕酮(0.16 ng/ml)、脱氢表雄酮(<0.95μmol/L)、雄烯二酮(<1.0 nmol/L)、睾酮(<0.025 ng/ml)、孕酮(0.02 ng/ml)和皮质醇(1.6μg/ml)减少。高通量测序显示,患者外显子6中携带p.Thr240fs和外显子7中携带p.Gln258X的复合杂合突变,分别遗传自父亲和母亲。Sanger测序证实了由StAR基因突变引起的CLAH的诊断。类固醇替代治疗后,患者症状缓解,电解质浓度恢复正常。新生儿随访至两岁,未发现身体或神经发育异常。检索了2篇中文和11篇英文文献,对包括索引1在内的96例新生儿CLAH进行了回顾性分析,其中42例有详细的临床资料。最常见的临床表现是皮肤色素沉着(85.7%,36/42)。其他表现包括呕吐(35.7%,15/42)和生长迟缓(14.3%,6/42)。所有有体检记录的患者都有女性外生殖器(100.0%,35/35)。常见的实验室异常包括低钠血症(95.2%,40/42)、高钾血症(88.1%,37/42)、血清促肾上腺皮质激素升高(100.0%,37/37)、17-羟基孕酮(90.5%,19/21)、皮质醇(86.2%,25/29)、睾酮(9/10)和脱氢表雄酮(14/14)降低。p.Gln258X是包括中国在内的东亚新生儿中最常见的StAR基因突变。大多数病例在适当的类固醇替代后预后良好。结论对于肾上腺皮质功能低下的新生儿,尤其是女性表型和17羟孕酮低的新生儿,应考虑CLAH。核型分析和StAR基因分析可能有助于诊断。及时、适当的治疗可改善预后。关键词:先天性肾上腺增生;46,XY性发育障碍;磷蛋白;突变;婴儿、新生儿
{"title":"Clinical features and molecular genetic analysis of congenital lipoid adrenal hyperplasia caused by steroidogenic acute regulatory protein gene mutation","authors":"W. Xiu, Yueqing Su, Changyi Yang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.004","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.004","url":null,"abstract":"Objective \u0000To investigate the clinical and molecular genetic features of neonatal congenital lipoid adrenal hyperplasia (CLAH) caused by mutations in steroidogenic acute regulatory protein (StAR) encoding gene. \u0000 \u0000 \u0000Methods \u0000This study retrospectively analyzed the clinical data of a CLAH neonate admitted to Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University in April 2017. StAR gene was analyzed using high-throughput sequencing and Sanger sequencing. Relevant literature retrieved from databases including China National Knowledge Infrastructure (CNKI), Wanfang and PubMed were reviewed, and the reported cases with relatively complete clinical data and results of serum hormone test and StAR gene mutation analysis were collected. \u0000 \u0000 \u0000Results \u0000The index patient presented with hyperpigmentation and growth retardation soon after birth. Laboratory tests revealed hyponatremia, hyperkalemia, increased serum adrenocorticotrophic hormone (263.4 pmol/L) and decreased 17-hydroxyprogesterone (0.16 ng/ml), dehydroepiandrosterone (<0.95 μmol/L), androstenedione (<1.0 nmol/L), testosterone (<0.025 ng/ml), progesterone (0.02 ng/ml) and cortisol (1.6 μg/ml). High-throughput sequencing showed that the patient carried a compound heterozygous mutation of p.Thr240fs in exon 6 and p.Gln258X in exon 7, inherited from the father and mother, respectively. Sanger sequencing confirmed the diagnosis of CLAH caused by StAR gene mutation. After steroid replacement therapy, the patient's symptoms resolved and the concentrations of electrolytes returned to normal. The neonate was followed up to two years of age and no abnormality was found in physical or neurological development. Two Chinese and 11 English publications were retrieved and altogether 96 cases of neonatal CLAH, including the index one, were reviewed and 42 of them had detailed clinical data. The most common clinical manifestations were skin pigmentation (85.7%, 36/42). Other manifestations included vomiting (35.7%, 15/42) and growth retardation (14.3%, 6/42). All patients with physical examination records had female external genitalia (100.0%, 35/35). The common laboratory abnormalities included hyponatremia (95.2%, 40/42), hyperkalemia (88.1%, 37/42), elevated serum adrenocorticotrophic hormone (100.0%, 37/37) and decreased 17-hydroxyprogesterone (90.5%, 19/21), cortisol (86.2%, 25/29), testosterone (9/10) and dehydroepiandrosterone (14/14). p.Gln258X was the most common StAR gene mutation in neonates in Eastern Asia, including China. Most cases had a good prognosis after appropriate steroid replacement. \u0000 \u0000 \u0000Conclusions \u0000CLAH should be considered for neonates with adrenocortical hypofunction, especially with female phenotypes and low 17-hydroxyprogesterone. Karyotyping and StAR gene analysis may be helpful in diagnosis. Timely and appropriate treatment could improve the prognosis. \u0000 \u0000 \u0000Key words: \u0000Adrenal hyperplasia, congenital; 46, XY Disorders of sex development","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"18-24"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45754041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Progress on the effect of delayed cord clamping on maternal and neonatal outcomes 延迟脐带夹闭对产妇和新生儿结局影响的研究进展
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.008
Xueyin Wang
In recent years, recommendations for delayed cord clamping at birth have been made by the World Health Organization and academic organizations in several countries. A consensus is yet to be reached regarding the timing of delayed cord clamping. Previous studies indicated that delayed cord clamping could decrease the risk of anemia, intraventricular hemorrhage, necrotizing enterocolitis, and hypotension, and improve neurodevelopment for infants, with no increased risk of postpartum hemorrhage. This article reviews the effect of delayed cord clamping on maternal and neonatal outcomes worldwide over the past five years. Key words: Umbilical cord; Time factors; Anemia; Postpartum hemorrhage
近年来,世界卫生组织和一些国家的学术组织提出了推迟出生时脐带夹紧的建议。关于延迟夹紧绳索的时间尚未达成共识。先前的研究表明,延迟脐带夹紧可以降低贫血、脑室出血、坏死性小肠结肠炎和低血压的风险,并改善婴儿的神经发育,而不会增加产后出血的风险。本文回顾了过去五年来世界各地延迟脐带夹闭对孕产妇和新生儿结局的影响。关键词:脐带;时间因素;贫血;产后出血
{"title":"Progress on the effect of delayed cord clamping on maternal and neonatal outcomes","authors":"Xueyin Wang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.008","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.008","url":null,"abstract":"In recent years, recommendations for delayed cord clamping at birth have been made by the World Health Organization and academic organizations in several countries. A consensus is yet to be reached regarding the timing of delayed cord clamping. Previous studies indicated that delayed cord clamping could decrease the risk of anemia, intraventricular hemorrhage, necrotizing enterocolitis, and hypotension, and improve neurodevelopment for infants, with no increased risk of postpartum hemorrhage. This article reviews the effect of delayed cord clamping on maternal and neonatal outcomes worldwide over the past five years. \u0000 \u0000 \u0000Key words: \u0000Umbilical cord; Time factors; Anemia; Postpartum hemorrhage","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"39-43"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41951663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis 胎儿胎粪性腹膜炎的产前超声诊断及预后
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.005
Yingheng Wu, Haiyu Wang, Qiyun Fan, Yansheng Feng, Hong Wang
Objective To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations. Methods The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively. According to the last prenatal ultrasonographic findings, the 31 cases were classified into the following grades: grade 0 (three cases), grade 1 (20 cases, grade 1A: nine cases, grade 1B: three cases, grade 1C: eight cases), grade 2 (seven cases) and grade 3 (one case). All neonates were also divided into two groups: the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery. Statistical methods were independent sample t-test and Chi-square test. Results (1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2±1.0) weeks, t=-6.202; (36.2±2.7) vs (38.2± 1.0) weeks, t=-2.426; both P<0.05]. (2) The operation rates in cases of grade 0, 1, 2 and 3 groups were 0/3, 55%(11/20), 7/7 and 1/1, respectively (χ2=10.136, P=0.017). However, the operation rates in grade 1A, 1B and 1C groups were 7/9, 1/3 and 3/8, respectively (χ2=3.446, P=0.179). Conclusions The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade. The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment. Key words: Peritonitis; Meconium; Ultrasonography, prenatal; Fetal diseases
目的探讨不同超声表现的胎儿胎粪性腹膜炎(FMP)的母婴结局。方法回顾性分析2011年1月至2018年12月在广州市妇幼保健中心经产前超声诊断和产后影像学检查确诊的31例FMP孕妇的临床资料。根据最近的产前超声检查结果,31例病例分为以下级别:0级(3例)、1级(20例,1A级:9例,1B级:3例,1C级:8例)、2级(7例)和3级(1例)。根据是否手术,将所有新生儿分为两组:手术组(19例)和保守治疗组(12例)。统计方法采用独立样本t检验和卡方检验。结果(1)首次诊断为FMP和出生时,手术组的胎龄均低于保守治疗组[(29.9±4.5)vs(38.2±1.0)周,t=-6.202;(36.2±2.7)vs(38.1±1.0)周,t=-2.426;均P<0.05],1A、1B和1C级组的手术率分别为7/9、1/3和3/8(χ2=3.446,P=0.017)。FMP患者不同级别的产前超声检查可为指导围产期治疗提供重要信息。关键词:腹膜炎;胎粪;产前超声检查;胎儿疾病
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引用次数: 0
Research progress in hemolytic disease in fetuses and newborns: a review 胎儿和新生儿溶血性疾病的研究进展
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.009
Yuanjun Wu, Fubing Yu, Yong Yang
Hemolytic disease in fetuses and newborns (HDFN) is a common perinatal condition caused by the destruction of erythrocytes of neonates or fetuses by maternal IgG antibodies. Fetal or neonatal hemolysis is HDFN's primary pathological process resulting in anemia and neonatal jaundice. This review summarized recent progress in the pathophysiology of HDFN, the clinical correlation between anti-erythrocyte alloantibodies and HDFN, laboratory tests for alloimmunization in pregnancy, clinical evaluation of high-risk cases of HDFN, and treatment and prevention of HDFN at home and abroad. Key words: Erythroblastosis, fetal; Rh Isoimmunization; Immunoglobulin G; Isoantibodies
胎儿和新生儿溶血病(hddn)是一种常见的围产期疾病,由母体IgG抗体破坏新生儿或胎儿的红细胞引起。胎儿或新生儿溶血是HDFN的主要病理过程,导致贫血和新生儿黄疸。本文综述了HDFN的病理生理、抗红细胞同种异体抗体与HDFN的临床相关性、妊娠期同种异体免疫的实验室检测、HDFN高危病例的临床评价、国内外HDFN的治疗和预防等方面的最新进展。关键词:红细胞增多症;胎儿;Rh同种免疫接种;免疫球蛋白G;同族抗体
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引用次数: 0
Clinical features and maternal and infant outcomes of right-sided infective endocarditis during pregnancy: a case report and literature review 妊娠期右侧感染性心内膜炎的临床特点及母婴结局:一例报告和文献复习
Q4 Medicine Pub Date : 2020-01-16 DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.006
F. Zhao, Gang Qin, Q. Yuan
Objective To investigate the clinical features, treatment strategies, and maternal and infant outcomes of pregnancy complicated by right-sided infective endocarditis (RSIE) to provide evidence for clinical management. Methods By searching literature on RSIE during pregnancy from the databases of CNKI, Wanfang Database, VIP, CBM, PubMed, OVID, EMbase and ScienceDirect, relevant information were collected to analyze the clinical manifestations, risk factors, positions of intracardiac vegetations, results of blood culture, treatment strategies and maternal and infant outcomes of RSIE. Results A total of 15 articles were retrieved, involving 18 infected gravidas with the average age of (27.7±4.8) years and average gestational age at onset of (27.8±6.9) weeks. Fever (n=14), cough (n=12), anemia (n=8) and shortness of breath or dyspnea (n=8) were the common symptoms. Cardiac murmurs were detected on auscultation in seven cases, of which six were systolic murmurs and one was unspecified. Heart sounds of five cases were clear on auscultation without any murmurs. Nine cases were complicated by pulmonary embolism and five by heart failure. The major risk factors were congenital heart diseases (10/18) and intravenous drug abuse (6/18). Vegetations were commonly seen on the tricuspid valves (10/18), followed by the pulmonary valves (4/18). The rate of positive blood culture was high (15/16) with Staphylococcus (9/15) and Streptococcus (3/15) being the primary pathogens. Most pregnancies were timely ended by cesarean section. Apart from receiving fundamental antibiotic therapy for infective endocarditis, 11 patients underwent cardiac surgery, including vegetation removal, valve repair or replacement and surgery for congenital heart diseases, before or after pregnancy or during cesarean section based on their gestational age, condition, and cardiopulmonary function. There was no maternal death, but one neonatal death was reported due to severe asphyxia following cesarean section at 28 weeks. Maternal and neonatal outcomes were good during follow-up. Conclusions Pregnancy complicated by RSIE is rare and complex, requiring early diagnosis and individualized treatment. Adequate and full-course antibiotic therapy, appropriate surgical procedures and timely termination are of great importance for improving maternal and infant outcomes. Key words: Pregnancy complications, cardiovascular; Endocarditis, bacterial; Pregnancy outcome
目的探讨妊娠合并右侧感染性心内膜炎(RSIE)的临床特点、治疗策略及母婴结局,为临床治疗提供依据。方法通过检索CNKI、万方数据库、VIP、CBM、PubMed、OVID、EMbase和ScienceDirect等数据库中关于妊娠期RSIE的文献,收集相关信息,分析RSIE的临床表现、危险因素、心内赘生物位置、血培养结果、治疗策略和母婴结局。结果共检索到15篇文章,涉及18例感染孕妇,平均年龄(27.7±4.8)岁,发病时平均胎龄(27.8±6.9)周。常见症状为发热(n=14)、咳嗽(n=12)、贫血(n=8)和呼吸急促或呼吸困难(n=8)。7例患者在听诊中发现心脏杂音,其中6例为收缩期杂音,1例未明确。5例患者听诊心音清晰,无杂音。9例并发肺栓塞,5例并发心力衰竭。主要危险因素为先天性心脏病(10/18)和静脉药物滥用(6/18)。植物常见于三尖瓣(10/18),其次是肺动脉瓣(4/18)。血培养阳性率高(15/16),主要病原菌为葡萄球菌(9/15)和链球菌(3/15)。大多数妊娠通过剖宫产及时结束。除了接受感染性心内膜炎的基本抗生素治疗外,11名患者还根据孕龄、病情和心肺功能,在怀孕前后或剖宫产期间接受了心脏手术,包括植被移除、瓣膜修复或置换以及先天性心脏病手术。没有产妇死亡,但据报道,有一名新生儿在28周时因剖宫产后严重窒息死亡。随访期间,产妇和新生儿的预后良好。结论妊娠合并RSIE是一种罕见而复杂的疾病,需要早期诊断和个体化治疗。充分和全程的抗生素治疗、适当的手术程序和及时终止妊娠对改善母婴结局至关重要。关键词:妊娠并发症、心血管疾病;心内膜炎,细菌性;妊娠结局
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引用次数: 0
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中华围产医学杂志
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