排序方式： 共有35条查询结果，搜索用时 15 毫秒
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通过群体调查,证实先天性聋哑病的遗传方式表现为常染色体隐性遗传,且外显完全,并有遗传异质性、表型模拟等特点.讨论了先天性聋哑的遗传咨询和优生原则. 相似文献
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调查单纯性先天上睑下垂一家系5代20例．通过系谱分析,认定该病为常染色体显性遗传．因基因突变而引起提上睑肌功能不全所致,需通过整形手术而矫正． 相似文献
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Ineke Haakma Marleen Janssen Alexander Minnaert 《International Journal of Disability, Development & Education》2017,64(3):310-327
Research on Self-Determination Theory has shown that teachers’ need-supportive behaviour is associated with student motivation and engagement. The purpose of this study is to examine the effectiveness of an intervention aimed at increasing the motivation of students with congenital and acquired deafblindness by enhancing teachers’ need-supportive behaviour. To assess the intervention effect, this study follows a multiple case-study design. Teacher questionnaires were administered and video observations of teacher–student interactions were made during pre-test, post-test and follow-up phases. The results showed that teachers provided involvement most, followed by structure and autonomy support. Teachers’ provision of structure and autonomy seems to improve most after the intervention. In general, teachers of students with congenital deafblindness showed larger intervention effects than teachers of students with acquired deafblindness. The results also provide indications that students’ levels of engagement improved after the intervention. 相似文献
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Feng-wei Song Bin-bin Chen Zhao-hui Sun Li-ping Wu Su-juan Zhao Qi Miao Xia-jing Tang 《Journal of Zhejiang University. Science. B》2013,14(6):479-486
Objective
To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).Methods
Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.Results
We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.Conclusions
Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN. 相似文献6.
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疏筋壮骨功提高人体机能的医学观察 总被引：1，自引：0，他引：1
对28例练习疏筋壮骨功者3个月前后的部分指标进行了测定,论证了提高人体有关系统机能的方法及原因,为指导人们更好地练功提供了参考依据。 相似文献
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Goreta SS Dabelic S Dumic J 《Biochemia medica : ?asopis Hrvatskoga dru?tva medicinskih biokemi?ara / HDMB》2012,22(2):156-170
Biochemical and biological properties of glycoconjugates are strongly determined by the specific structure of its glycan parts. Glycosylation, the covalent attachment of sugars to proteins and lipids, is very complex and highly-coordinated process involving > 250 gene products. Deficiency of glycosylation enzymes or transporters results in impaired glycosylation, and consequently pathological modulation of many physiological processes. Inborn defects of glycosylation enzymes, caused by the specific mutations, lead to the development of rare, but severe diseases - congenital disorders of glycosylation (CDGs). Up today, there are more than 45 known CDGs. Their clinical manifestations range from very mild to extremely severe (even lethal) and unfortunately, only three of them can be effectively treated nowadays. CDG symptoms highly vary, though some are common for several CDG types but also for other unrelated diseases, especially neurological ones, leaving the possibility that many CDGs cases are under- or misdiagnosed. Glycan analysis of serum transferrin (by isoelectric focusing or more sophisticated methods, such as HPLC (high-performance liquid chromatography) or MALDI (matrix-assisted laser desorption/ionization)) or serum N-glycans (by MS), enzyme activity assays and DNA sequence analysis are the most frequently used methods for CDG screening and identification, since no specific tests are available yet. In this review we summarize the current knowledge on the clinical, biochemical and genetic characteristic of distinct CDGs, as well as existing diagnostic and therapeutic procedures, aiming to contribute to the awareness on the existence of these rare diseases and encourage the efforts to elucidate its genetic background, improve diagnostics and develop new strategies for their treatment. 相似文献
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端粒是由染色体末端的DN A重复序列组成的,其上有蛋白结合。可保护染色体免受伤害,与细胞周期过程中DN A末端片断的流失、细胞凋亡有关。端粒酶由hTERC和hTERT组成,可以维持端粒的稳定。造血干细胞有一定的端粒酶活性,目前已研究出多种因素影响其表达。端粒酶相关基因修饰干细胞可以达到建立永生化细胞系等目的,亦有很好的应用前景。最近,在研究端粒酶在人类造血系统的作用时,人们把目光集中到一种罕见的遗传病DCK上。治疗这种疾病可能需要进一步的研究来揭示hTERT的内在基因和外来因素的两种调节之间的关系。 相似文献
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孕期营养对孕妇和胎儿的健康都十分重要,孕期合理营养是保障母婴健康的基础,期间营养状况直接关系着妊娠结局,对孕妇及胎儿的健康亦有重要影响。大量研究显示孕妇肥胖与围生期孕妇及胎儿的不良结局相关。 相似文献