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先天性肌病患者的妊娠与分娩。

Pregnancy and Delivery in Women With Congenital Myopathies.

机构信息

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

The Folkhalsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

出版信息

Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16.

Abstract

Reports on pregnancy and delivery issues in women with congenital myopathies are scarce. In this review, we summarize the medical literature along with updates of our own data. Included are patients with nemaline myopathy (n = 11), central core disease (n = 6), multi-minicore disease (n = 2), cytoplasmic body myopathy (n = 1), and congenital fiber-type disproportion (n = 1). Apart from 1 patient with nemaline myopathy, who had used a wheelchair from the age of 18years, all other women were able to walk when becoming pregnant. In comparison with the general population, there were no increased pregnancy or delivery complications, apart from the fact that 38% elective Cesarean sections took place. Neonatal outcome was favorable. In cases where a possible influence of gestation on muscle function was assessed, a deterioration during or after pregnancy was not observed. Patients who wish to have children should be advised by a multidisciplinary team according to the specific diagnosis, severity, and distribution of muscle weakness.

摘要

关于先天性肌病女性的妊娠和分娩问题的报告很少。在这篇综述中,我们总结了医学文献,并更新了我们自己的数据。包括 nemaline 肌病患者(n=11)、中央核疾病患者(n=6)、多微核疾病患者(n=2)、细胞质体肌病患者(n=1)和先天性纤维型比例失调患者(n=1)。除了 1 名 nemaline 肌病患者从 18 岁起就使用轮椅外,所有其他女性在怀孕时都能够行走。与一般人群相比,除了 38%的择期剖宫产外,没有增加妊娠或分娩并发症。新生儿结局良好。在评估妊娠对肌肉功能可能产生的影响的情况下,未观察到妊娠期间或之后肌肉功能恶化。希望生育的患者应根据具体的诊断、严重程度和肌肉无力的分布,由多学科团队提供建议。

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