目的 探讨肾移植患者非结核分枝杆菌（NTM）病临床特点及分子诊断。 方法 回顾性分析2011年4月1例皮肤软组织NTM感染的肾移植患者的临床特点，并以其病变组织DNA为模板，聚合酶链反应（PCR）扩增hsp65基因和rpoB基因序列，测序比对鉴定其NTM菌种。结合文献复习NTM病及分析分子生物学技术在移植患者NTM感染诊断中的作用。 结果 该肾移植患者系皮肤软组织胞内分枝杆菌感染，临床特点与结核病极其相似，难以进行鉴别诊断。PCR扩增、测序的结果显示hsp65产物和rpoB产物序列与胞内分枝杆菌GeneBank中FJ643456.1及CP003324.1序列100%一致。 结论 NTM病的临床表现与结核病相似，分子生物学方法鉴定菌种对移植患者胞内分枝杆菌病的诊断有帮助。
Objective To summarize the progress in the diagnosis and treatment of thyroid cancer related genes. Methods By using the method of literature review, The literatures of thyroid cancer related gene were reviewed on the study of emerging diagnosis and treatment strategy. Results Combined detection of BRAF oncogene, RAS oncogene, RET/PTC rearrangement, PAX8-PPARγ fusion gene and its related genes, can effectively improve the prediction accuracy of the malignant thyroid nodule form benign, and has become a basis of targeted drug therapy. Conclusion In preoperative thyroid cancer, Joint detection of related gene can provide a molecular basis for the patients to guide the operation and drug treatment.
Ultra-sensitive and quantitative analysis of proteins, nucleic acid, virus and other biochemical species are critical technologies for effective dianosis of disease, as well as medical studies. Silicon nanowires field-effect transistor (SiNWs-FET) biosensor is one of the most promising powerful platforms for label-free, real-time, ultra-sensitive detection of analyte. Here, the working principle of SiNWs-FET biosensor and the applications of SiNWs-FET biosensors in medicine were introduced. Moreover, the methods for enhancing the sensitivity of SiNWs-FET biosensor were discussed. Lastly, the prospecting of SiNWs-FET biosensor was presented.
Delay in diagnosis of tuberculosis and the presence of drug-resistant tuberculosis are huge threats to global tuberculosis disease control. Early detection of active tuberculosis, especially the detection of drug-resistant Mycobacterium tuberculosis strains, is necessary. This paper emphasizes on the application of the molecular diagnostic techniques in the field of rapid detection of Mycobacterium tuberculosis and drug-resistant Mycobacterium tuberculosis, and discusses the performance of current molecular diagnostic techniques in solving clinical detection difficulties. The paper aims to provide the theoretical thinking for the diagnosis of tuberculosis in the future.
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known disease-causing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Patients with IRD may have their clinical diagnosis confirmed by genetic testing. Over the past 30 years, rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing, which provide hope to patients. The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes, and the fact that different variants lead to different phenotypes and severity even of the same gene. It is very important to overall evaluate the clinical phenotype of patients, precisely select genetic testing methods, and reasonably define disease-causing genes and variants during genetic diagnosis, which can guide the patient's subsequent treatment and provide genetic counseling.