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find Author "程萌" 3 results
  • Evidence-Based Perineal Care

    Perineal care is a classic topic for obstetrics. After thousands of years of practice, we have accumulated some experience and meanwhile, we are also taking some attempts. The effectiveness and reliability of these methods need evaluation. Nowadays, the best evidence comes from randomized controlled trials (RCT) and systematic reviews (SR). We searched The Cochrane Library (Issue 3, 2007), MEDLINE (Jan. 1980 to May 2007) databases and CBM-disc (Jan. 1980 to May 2007) to obtain current best evidence for perineal care.

    Release date:2016-09-07 02:13 Export PDF Favorites Scan
  • 辅助生殖技术与子代神经系统疾病的相关性研究回顾

    辅助生殖技术是目前治疗不孕症的主要手段之一。由于辅助生殖技术涉及对卵泡发育、精卵结合、胚胎形成、转运、种植过程的人为干预,自 1978 年首例试管婴儿诞生以来,其安全性,尤其是对子代健康的影响一直受到人们的关注。神经系统疾病是常见的出生缺陷之一。由于神经系统疾病通常影响儿童的精神、情绪、智力、运动、语言等关键能力,且神经系统的损伤往往不可修复,因此婴幼儿一旦罹患神经系统疾病对家庭和社会来说无疑是巨大的打击与负担。该文就辅助生殖技术与几种常见的子代神经系统疾病如智力低下、脑瘫、癫痫的关系进行了综述,并对辅助生殖技术对子代神经系统的安全性进行评价,从而进一步指导临床不孕症的治疗及围产期的母儿监护。

    Release date:2017-05-18 01:09 Export PDF Favorites Scan
  • Novel mutations in the USH2A gene in a family affected with Usher syndrome type 2

    ObjectiveTo identify the pathogenic genes and mutations in a family with Usher syndrome type 2.MethodsA three-generation family including 7 individuals was enrolled in this study. There were 2 male patients and 5 unaffected individuals. All participants was underwent related ophthalmologic examination, including best corrected visual acuity, slit-lamp, indirect ophthalmoscopy, electroretinogram (ERG), optical coherence tomography and visual field test. DNA was extracted from 3 ml peripheral venous blood of all participants. A total of 136 hereditary retinal disease target genes were screened and the DNA sequence was performed by Next-generation sequence analysis. Then the suspected mutations compared with databases to identify the suspected mutations, which should be verified with non-affected family members and 100 normal subjects by PCR and Sanger sequence.ResultsThe sequence result showed that 2 patients, the proband and his brother, carried complex heterozygous mutations in the USH2A gene: c.5459T>C (p.M1820T) in exon 27, c.802G>A (p.G268R) in exon 5 and c.1190T>A (p.I397K) in exon 7. The c.5459T>C and c.1190T>A mutations in USH2A have not been reported in the literature and database. Although their mother carried c.5459T>C (p.M1820T) and c.802G>A (p.G268R), and their father carried c.1190T>A (p.I397K) heterozygous mutations, the parents did not present phenotype. These mutations were not detected in other normal family members. The result was supported by co-segregation analysis.ConclusionThe heterozygous mutations c.5459T>C (p.M1820T), c.1190T>A (p.I397K) and c.802G>A (p.G268R) in USH2A gene cause Usher syndrome in this family.

    Release date:2018-05-18 06:38 Export PDF Favorites Scan
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