简介:摘要目的对1例表现为轻度智力低下、特殊面容的孕妇进行遗传学分析,并为其提供产前诊断。方法采用常规G显带染色体核型分析和单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)检测对孕妇夫妇外周血及其羊水样本进行分析。结果孕妇夫妇外周血及羊水样本核型分析均未见异常,SNP-array检测提示孕妇携带10q22.3q23.2区7.801 Mb缺失,涉及CDHR1、BMPR1A、NRG3、GRID1、LDB3等18个OMIM基因,与面容异常、发育迟缓、智力低下、自闭症相关。胎儿亦携带相同区域的7.819 Mb缺失,父亲检测结果未见异常。结论孕妇和胎儿均携带10q22.3q23.2微缺失,明确病因后可指导其再生育。
简介:摘要目的联合应用多种技术产前检测1例胎儿13q33.3-q34微缺失。方法采集中孕期胎儿羊水及其父母外周血样本,行常规染色体核型分析,并应用单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP-array)技术对胎儿及其父母进行全基因组拷贝数变异分析,最后采用荧光原位杂交技术(fluorescence in situ hybridization,FISH)进行确诊。结果胎儿羊水细胞染色体核型为46,XN,16qh+,SNP结果为13q33.3-q34区段缺失2.1 Mb;胎儿父亲外周血染色体核型为46,XY,16qh+,SNP结果为13q13.3-q14.2区段存在10.5 Mb杂合性缺失片段;胎儿母亲外周血染色体及SNP结果均未见异常。FISH检测结果显示胎儿父母未发现有13q33.3位点片段的缺失、重复或易位等异常。出生后小儿无异常临床表型。结论通过结合染色体G显带核型分析、SNP-array以及FISH,产前确诊1例13q33.3-q34微缺失胎儿。其微缺失基因型与临床表型相关性还需进一步研究。
简介:摘要:目的:甲状腺结节分类诊断过程中采用TI-RADS分类法,观察该种分类方法的应用效果。方法:将我科2018年1月--2020年10月的甲状腺结节297例患者353个结节作为观察对象,并且根据分类方法不同,将患者分成一组和二组,一组使用TI-RADS分类法,二组使用ATA标准分类。结果:(1)本次总共选择353个甲状腺结节作为研究对象,其中良性结节210个,占比59.49%;恶性结节143个,占比40.50%。(2)一组和二组甲状腺结节分类后从NPV、PPV、敏感性、特异性、准确性对照中,一组分别是94.33%、76.20%、88.66%、84.13%、89.23%,二组分别是85.26%、69.68%、77.33%、71.10%、81.01%。(x2=10.021,p=0.000),结果有差异。结论:甲状腺结节诊断过程中采用TI-RADS分类法价值较高,该种方法值得在临床上推广。
简介:AbstractThere are only a few case reports of Q fever caused by Coxiella burnetii in China, despite the nature as a ubiquitous zoonotic disease worldwide. In the northeast part of China, a 52-year-old male presented with fever, cough, shortness of breath, and sputum production, accompanied by headache, dizziness, chill, myalgia, and arthralgia. Chest computed tomography images showed pneumonia accompanied by bilateral scattered infiltrates and localized upper-lobe emphysema. The abnormal liver function was indicated by the increased levels of alanine aminotransferase and aspartate aminotransferase. Through high-throughput sequencing and molecular detection, Coxiella burnetii was positive in the patient's blood specimens. After treatment with moxifloxacin hydrochloride and vidarabine monophosphate for 12 days, the patient completely recovered. To our knowledge, this was the first reported case of Q fever with pneumonia and hepatitis in this country.