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临床前肥厚型心肌病的临床表现谱:肌小节基因突变携带者的特征
肥厚型心肌病(HCM)主要为肌小节突变所致,其临床表现差异很大,合并一系列严重后果,如猝死、终末期心力衰竭.通常因心脏影像发现无法解释的左心窜肥厚而确诊,但这一特征与年龄高度相关,儿童期多无心脏肥厚形态学表现,故目前临床往往在青春期或青春期后才能作出HCM的诊断.
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Hearing loss (HL) is the most common sensory disorder, affecting all age groups, ethnicities, and gen-ders. According to World Health Organization (WHO) estimates in 2005, 278 million people worldwide have moderate to profound HL in both ears. Results of the 2002 National Health Interview Survey indicate that nearly 31 million of all non-institutionalized adults (aged 18 and over) in the United States have trouble hearing. Epidemiological studies have estimated that approximately 50%of profound HL can be attributed to genetic causes. With over 60 genes implicated in nonsyndromic hearing loss, it is also an extremely het-erogeneous trait. Recent progress in identifying genes responsible for hearing loss enables otolaryngologists and other clinicians to apply molecular diagnosis by genetic testing. The advent of the $1000 genome has the potential to revolutionize the identification of genes and their mutations underlying genetic disorders. This is especially true for extremely heterogeneous Mendelian conditions such as deafness, where the muta-tion, and indeed the gene, may be private. The recent technological advances in target-enrichment methods and next generation sequencing offer a unique opportunity to break through the barriers of limitations im-posed by gene arrays. These approaches now allow for the complete analysis of all known deafness-causing genes and will result in a new wave of discoveries of the remaining genes for Mendelian disorders. This re-view focuses on describing genotype-phenotype correlations of the most frequent genes including GJB2, which is responsible for more than half of cases, followed by other common genes and on discussing the im-pact of genomic advances for comprehensive genetic testing and gene discovery in hereditary hearing loss.
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男性不育症遗传学检查的进展
每8对育龄夫妇即有1对不育,其原因半数与男性有关.其中2/3为原发性睾丸疾病,影响精子发生;大部分病因不明,或用精液参数表示,或称为原发性精子生成障碍和特发性不育.辅助生殖技术(ART),如从睾丸分离和收集精子用于胞浆内精子注射(ICSI),已广泛用于精子数量不足或活力低下的患者.医生应告知患者夫妇男性不育的原因,并尽量识别有可能治疗的疾病,即使很少见(如促性腺激素缺乏症).
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Huntington’s disease is a rare auto?somal-dominant disorder, affecting people in middle age with motor, cognitive and psychiatric symptoms. The disease is due to a triplet repeat elongation in the Huntingtin gene, which leads to neuronal malfunction and degeneration through a number of different molec?ular pathways. Molecular genetic testing, which is per?formed after careful neurogenetic counselling, con?firms diagnosis. The treatment is symptomatic and needs to be tailored to the need of the patients and in?volve his relatives.