目的了解山东省济宁市新生儿氨基酸代谢疾病的患病率、疾病构成和基因突变类型。方法采集2014年7月至2021年12月在山东省济宁市新生儿疾病筛查中心进行检测的新生儿足跟血,用串联质谱(tandem mass spectrometry,MS/MS)法检测血中氨基酸...目的了解山东省济宁市新生儿氨基酸代谢疾病的患病率、疾病构成和基因突变类型。方法采集2014年7月至2021年12月在山东省济宁市新生儿疾病筛查中心进行检测的新生儿足跟血,用串联质谱(tandem mass spectrometry,MS/MS)法检测血中氨基酸浓度,筛查氨基酸代谢疾病。用核酸质谱和二代测序技术检测突变基因,Sanger测序验证。非正态分布的计量资料用中位数(范围)表示,计数资料采用频数和率表示,患病率采用1/n表示。结果741157例新生儿中氨基酸代谢疾病MS/MS初次筛查阳性883例,初次筛查阳性率0.12%(883/741157),召回876例,阳性召回率99.21%(876/883)。确诊氨基酸代谢疾病145例,阳性预测值16.55%(145/876),总患病率为1/5111。共9类疾病,苯丙氨酸羟化酶缺乏症最常见,占56.55%(82/145),其次为高蛋氨酸血症和希特林蛋白缺乏症,分别占15.86%(23/145)和10.34%(15/145)。苯丙氨酸羟化酶缺乏症、希特林蛋白缺乏症、四氢生物蝶呤缺乏症、瓜氨酸血症Ⅰ型、精氨酸琥珀酸血症、酪氨酸血症Ⅲ型突变基因以复合杂合突变为主,占71.43%~100%;高蛋氨酸血症、枫糖尿症和鸟氨酸氨甲酰转移酶缺乏症突变基因以杂合突变为主,占52.17%~100%。PAH基因突变位点c.728G>A(p.R243Q)、MAT1A基因突变位点c.791G>A(p.R264H)和SLC25A13基因突变位点c.852_855del(p.M285Pfs*2)的检出率最高。随访期内,4例枫糖尿症和1例鸟氨酸氨甲酰转移酶缺乏症死亡,其余病例生长发育正常。结论山东省济宁市新生儿氨基酸代谢疾病总患病率为1/5111。疾病构成以苯丙氨酸羟化酶缺乏症最常见,以PAH基因突变为主,c.728G>A(p.R243Q)为热点突变位点。展开更多
目的:探讨荧光定量PCR法与涂片抗酸染色法在活动性肺结核早期诊断中的应用价值,评估两种方法在敏感性、特异性及准确性方面的表现,为临床诊断提供科学依据。方法:研究选取2021年1月至2022年1月期间我院收治的100名疑似活动性肺结核患者...目的:探讨荧光定量PCR法与涂片抗酸染色法在活动性肺结核早期诊断中的应用价值,评估两种方法在敏感性、特异性及准确性方面的表现,为临床诊断提供科学依据。方法:研究选取2021年1月至2022年1月期间我院收治的100名疑似活动性肺结核患者作为研究对象,根据检测方法分为实验组和对照组,实验组采用荧光定量PCR法进行检测,对照组则采用涂片抗酸染色法进行诊断。检测前均采集患者的痰液样本并进行标准化处理。记录两组的阳性检出率、敏感性、特异性及结果一致性。结果:荧光定量PCR法的敏感性为90.48%,特异性为93.75%;涂片抗酸染色法的敏感性为66.67%,特异性为87.50%。荧光定量PCR法在检出真实阳性病例方面表现更优,假阴性率更低,同时在排除非病原体感染的能力上表现更高,假阳性率较低。两种方法对比表明,荧光定量PCR法在敏感性和特异性方面均优于涂片抗酸染色法,具有更高的诊断准确性和临床应用价值(P Objective: To explore the application value of fluorescence quantitative polymerase chain reaction (PCR) and Acid-Fast Smear Staining in the early diagnosis of active pulmonary tuberculosis, to assess the performance of the two methods in terms of sensitivity, specificity and accuracy, and to provide scientific basis for clinical diagnosis. Methods: 100 patients with suspected active tuberculosis admitted to our hospital between January 2021 and January 2022 were selected as the study subjects, and were divided into experimental and control groups according to the detection methods, with the experimental group using the fluorescence quantitative PCR for the detection, and the control group using the smear antacid staining method for the diagnosis. Sputum samples were collected and standardized before testing. The positive detection rate, sensitivity, specificity and consistency of the results of the two groups were recorded. Results: The sensitivity of the fluorescence quantitative PCR was 90.48% and the specificity was 93.75%;the sensitivity of the Acid-Fast Smear Staining was 66.67% and the specificity was 87.50%. The fluorescence quantitative PCR performed better in detecting true-positive cases with a lower false-negative rate, as well as higher in the ability to exclude non-pathogenic infections with a lower false-positive rate. Comparison of the two methods showed that the fluorescent quantitative PCR was superior to the Acid-Fast Smear Staining in terms of sensitivity and specificity, with higher diagnostic accuracy and clinical application value (P < 0.05). Conclusion: Although the Acid-Fast Smear Staining is easy to operate, it has limited sensitivity and accuracy and is not suitable for early screening application. It is recommended that the fluorescence quantitative PCR be used as the first choice for the early diagnosis of active pulmonary tuberculosis to improve the diagnostic efficiency and provide a precise basis for the early treatment of patients.展开更多
文摘目的了解山东省济宁市新生儿氨基酸代谢疾病的患病率、疾病构成和基因突变类型。方法采集2014年7月至2021年12月在山东省济宁市新生儿疾病筛查中心进行检测的新生儿足跟血,用串联质谱(tandem mass spectrometry,MS/MS)法检测血中氨基酸浓度,筛查氨基酸代谢疾病。用核酸质谱和二代测序技术检测突变基因,Sanger测序验证。非正态分布的计量资料用中位数(范围)表示,计数资料采用频数和率表示,患病率采用1/n表示。结果741157例新生儿中氨基酸代谢疾病MS/MS初次筛查阳性883例,初次筛查阳性率0.12%(883/741157),召回876例,阳性召回率99.21%(876/883)。确诊氨基酸代谢疾病145例,阳性预测值16.55%(145/876),总患病率为1/5111。共9类疾病,苯丙氨酸羟化酶缺乏症最常见,占56.55%(82/145),其次为高蛋氨酸血症和希特林蛋白缺乏症,分别占15.86%(23/145)和10.34%(15/145)。苯丙氨酸羟化酶缺乏症、希特林蛋白缺乏症、四氢生物蝶呤缺乏症、瓜氨酸血症Ⅰ型、精氨酸琥珀酸血症、酪氨酸血症Ⅲ型突变基因以复合杂合突变为主,占71.43%~100%;高蛋氨酸血症、枫糖尿症和鸟氨酸氨甲酰转移酶缺乏症突变基因以杂合突变为主,占52.17%~100%。PAH基因突变位点c.728G>A(p.R243Q)、MAT1A基因突变位点c.791G>A(p.R264H)和SLC25A13基因突变位点c.852_855del(p.M285Pfs*2)的检出率最高。随访期内,4例枫糖尿症和1例鸟氨酸氨甲酰转移酶缺乏症死亡,其余病例生长发育正常。结论山东省济宁市新生儿氨基酸代谢疾病总患病率为1/5111。疾病构成以苯丙氨酸羟化酶缺乏症最常见,以PAH基因突变为主,c.728G>A(p.R243Q)为热点突变位点。
文摘目的:探讨荧光定量PCR法与涂片抗酸染色法在活动性肺结核早期诊断中的应用价值,评估两种方法在敏感性、特异性及准确性方面的表现,为临床诊断提供科学依据。方法:研究选取2021年1月至2022年1月期间我院收治的100名疑似活动性肺结核患者作为研究对象,根据检测方法分为实验组和对照组,实验组采用荧光定量PCR法进行检测,对照组则采用涂片抗酸染色法进行诊断。检测前均采集患者的痰液样本并进行标准化处理。记录两组的阳性检出率、敏感性、特异性及结果一致性。结果:荧光定量PCR法的敏感性为90.48%,特异性为93.75%;涂片抗酸染色法的敏感性为66.67%,特异性为87.50%。荧光定量PCR法在检出真实阳性病例方面表现更优,假阴性率更低,同时在排除非病原体感染的能力上表现更高,假阳性率较低。两种方法对比表明,荧光定量PCR法在敏感性和特异性方面均优于涂片抗酸染色法,具有更高的诊断准确性和临床应用价值(P Objective: To explore the application value of fluorescence quantitative polymerase chain reaction (PCR) and Acid-Fast Smear Staining in the early diagnosis of active pulmonary tuberculosis, to assess the performance of the two methods in terms of sensitivity, specificity and accuracy, and to provide scientific basis for clinical diagnosis. Methods: 100 patients with suspected active tuberculosis admitted to our hospital between January 2021 and January 2022 were selected as the study subjects, and were divided into experimental and control groups according to the detection methods, with the experimental group using the fluorescence quantitative PCR for the detection, and the control group using the smear antacid staining method for the diagnosis. Sputum samples were collected and standardized before testing. The positive detection rate, sensitivity, specificity and consistency of the results of the two groups were recorded. Results: The sensitivity of the fluorescence quantitative PCR was 90.48% and the specificity was 93.75%;the sensitivity of the Acid-Fast Smear Staining was 66.67% and the specificity was 87.50%. The fluorescence quantitative PCR performed better in detecting true-positive cases with a lower false-negative rate, as well as higher in the ability to exclude non-pathogenic infections with a lower false-positive rate. Comparison of the two methods showed that the fluorescent quantitative PCR was superior to the Acid-Fast Smear Staining in terms of sensitivity and specificity, with higher diagnostic accuracy and clinical application value (P < 0.05). Conclusion: Although the Acid-Fast Smear Staining is easy to operate, it has limited sensitivity and accuracy and is not suitable for early screening application. It is recommended that the fluorescence quantitative PCR be used as the first choice for the early diagnosis of active pulmonary tuberculosis to improve the diagnostic efficiency and provide a precise basis for the early treatment of patients.
