连南八排瑶语名量词研究

连南八排瑶语的名量词是通过语义对名词进行分类的,但是语义分类的界线逐渐模糊,这是八排瑶语名量词的一个方面。其次是八排瑶语名量词的句法分布及句法功能逐渐萎缩,有较广泛的句法分布和丰富的句法功能的名量词只有tsa44、dui24、tu53/na44。以tsa44、dui24、tu53/na44为切入点,对八排瑶语名量词的句法进行描写。     

Prenatal diagnosis of genetic microcephaly

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.     

Prenatal genetic counselling for psychiatric disorders

Psychiatric disorders like schizophrenia, bipolar disorder, depression, anxiety, and obsessive–compulsive disorder are common disorders with complex aetiology. They can exact a heavy toll on the individual with the condition and can have significant impact on family members too. Accordingly, psychiatric disorders can arise as a concern in the prenatal context – couples may be interested in learning about the chance for their child to develop the illness that manifests in the family and may be interested in discussing options for prenatal testing. However, the complex nature of these conditions can present challenges for clinicians who seek to help families with these issues. We established the world's first specialist genetic counselling service of its kind in Vancouver, Canada, in 2012, and to date, have provided counselling for ~500 families and have demonstrated increases in patients' empowerment and self efficacy after genetic counselling. We draw on our accumulated clinical experience to outline the process by which we approach prenatal genetic counselling for psychiatric disorders to assist other clinicians in providing thoughtful, comprehensive support to couples seeking out this service. © 2016 John Wiley & Sons, Ltd.     

Cystic hygroma: Prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

基于读者反应的红色旅游英译文本可读性研究

随着我国红色旅游业的快速发展,以翻译为主要途径的外宣工作的重要性日益彰显,如何评价外宣文本的可读性逐渐成为学界关注的热点问题。文中以井冈山景区的英译文本为例,通过问卷调查和访谈的方式收集了十五位目标语读者关于外宣文本的反馈意见。结果显示:译文的可读性受文本质量、文本长度和读者背景等诸多因素的影响。由于译者对英译文本的目标语读者和文本功能认识不足,译文在词汇、语句和语篇等层面均存在不同程度的问题。     

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

Familial dysautonomia (FD), a recessively inherited disease, has been mapped to chromosome 9q31. Highly polymorphic dinucleotide repeat markers flanking the genetic locus and at the same genetic location have been identified. We describe the prenatal diagnosis of FD using linkage and linkage disequilibrium analyses with these markers. Twelve families were analysed for informativeness and of these, seven went on to have prenatal testing (a total of eight fetuses tested). All of these fetuses were predicted to be heterozygous unaffected (FD carriers). Seven fetuses have come to term and are normal. In the absence of a recombinant proband, a panel of three proximal and three distal markers is sufficient to provide informative flanking markers and an 87–96 per cent likelihood of a highly predictive test. In an additional family at 1:4 risk for FD, no DNA was available from the propositus. This family was analysed using linkage disequilibrium to the #18 allele of the tightly linked marker D9S58 in conjunction with linkage analysis using data from two unaffected children. Prenatal diagnosis in this family indicated an affected fetus.     

Prenatal ultrasound finding of atypical genitalia: Counseling,genetic testing and outcomes

Objective

To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.

Methods

A retrospective cohort study (2017–2019) of atypical fetal genitalia in a large expert center for disorders/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1, n = 22 (38%)] or with [group 2, n = 36 (62%)] additional anomalies on US.

Results

In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1.

Conclusions

For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia.