21 hydroxylase deficiency (21-OHD), the most common form of congenital adrenal hyperplasia, is caused by defects in CYP21A2 gene, which encodes the cytochrome P450 oxidase (P450C21) involved in glucocorticoid and mineralocorticoid synthesis. The diagnosis of 21-OHD is based on the comprehensive evaluation of clinical manifestation, biochemical alteration and molecular genetics results. Due to the complex structure of CYP21A2, special techniques are required to perform delicate analysis to avoid the interference of its pseudogene. Recently, the state-of-the-art diagnostic methods were applied to the clinic gradually, including the steroid hormone profiling and third generation sequencing. To standardize the laboratory diagnosis of 21-OHD, this consensus was drafted on the basis of the extensive knowledge, the updated progress and the published consensuses and guidelines worldwide by expert discussion organized by Rare Diseases Group of Pediatric Branch of Chinese Medical Association, Medical Genetics Branch of Chinese Medical Doctor Association, Birth Defect Prevention and Molecular Genetics Branch of China Maternal and Child Health Association. and Molecular Diagnosis Branch of Shanghai Medical Association.
Child ; Humans ; Adrenal Hyperplasia, Congenital/genetics* ; Steroid 21-Hydroxylase/genetics* ; Consensus ; China ; Clinical Laboratory Techniques ; Mutation

Hepatitis type E virus (HEV) infection is a common cause of acute viral hepatitis in China, and its etiological diagnosis relies on laboratory detection. Therefore, this article introduces the HEV RNA, HEV antigen, anti-HEV IgM, and IgG detection methods and their diagnostic application value. In addition, it also discusses the current international diagnostic standard and HEV infection presentation.
Humans ; RNA, Viral ; Hepatitis Antibodies ; Clinical Laboratory Techniques/methods* ; Hepatitis E virus ; Immunoglobulin M ; Hepatitis

The laboratory diagnostic strategy for human immunodeficiency virus (HIV) is a process to accurately detect HIV patients through a combination of available HIV tests. Laboratory tests for HIV infection are mainly serological antibody and antigen testing and HIV RNA testing. With the update of testing reagents, the sensitivity and specificity have improved substantially and the window period of detection has shortened, but there is a risk of false positives. Various guidelines have recommended different diagnostic strategies for different target populations and different prevalence regions to guide patients to confirm the diagnosis and receive standardized antiretroviral therapy as early as possible. How to refer to the diagnostic strategies, reduce false positives and shorten the window period while increasing the detection rate is an urgent issue for laboratories to address. This article describes the characteristics and advantages and disadvantages of testing methods related to HIV infection from the perspective of laboratory diagnostic strategies, as well as the impact of the development of treatments on diagnostic strategies, in order to provide theoretical support for the practical application of HIV diagnostic strategies.
Humans ; HIV ; HIV Infections/diagnosis* ; Sensitivity and Specificity ; Clinical Laboratory Techniques/methods* ; Quality Control

Humans ; Child ; Clinical Laboratory Techniques

Malaria remains a global health challenge, although an increasing number of countries will enter pre-elimination and elimination stages. The prompt and precise diagnosis of symptomatic and asymptomatic carriers of Plasmodium parasites is the key aspect of malaria elimination. Since the launch of the China Malaria Elimination Action Plan in 2010, China has formulated clear goals for malaria diagnosis and has established a network of malaria diagnostic laboratories within medical and health institutions at all levels. Various external quality assessments were implemented, and a national malaria diagnosis reference laboratory network was established to strengthen the quality assurance in malaria diagnosis. Notably, no indigenous malaria cases have been reported since 2017, but the risk of re-establishment of malaria transmission cannot be ignored. This review summarizes the lessons about malaria diagnosis in the elimination phase, primarily including the establishments of laboratory networks and quality control in China, to better improve malaria diagnosis and maintain a malaria-free status. A reference is also provided for countries experiencing malaria elimination.
China/epidemiology* ; Clinical Laboratory Techniques ; Global Health ; Humans ; Laboratories ; Malaria/prevention & control*

Exploring a new teaching mode of CHB laboratory diagnostics to improve the teaching quality through establishment a teaching model covered the whole process of CHB disease diagnosis and differential diagnosis, treatment, drug selection, the toxicity and side effects prediction, effect monitoring, and prognosis evaluation. According to the CHB clinical diagnosis and treatment guidelines, formulated the laboratory examination and detection strategies related to different stages of CHB, and established CHB clinical laboratory diagnostic pathway. Compared the classroom teaching effect by the questionnaire between the 2016 and 2017 eight-year undergraduates from the First Clinical College of Wuhan University. In this study,the CHB clinical laboratory diagnostic pathway was established and approved by clinicians, which covered the whole process of CHB disease diagnosis and differential diagnosis, treatment, drug selection, the toxicity and side effects prediction, effect monitoring, and prognosis evaluation. The teaching quality evaluation indicators and the scores on the class test had been greatly improved with the clinical diagnostic pathway teaching mode in the classroom teaching of 2017 clinical medicine undergraduates compared with the traditional teaching mode in the 2016 clinical medicine undergraduates. In summary, the medical students not only could realize the organic integration of laboratory diagnostics and clinical medicine, but also improves overall understanding of various laboratory tests in CHB diagnosis and treatment from the teaching model of laboratory diagnostics based on the CHB clinical laboratory diagnostic pathway,and the quality of teaching for CHB has been significantly improved.
Clinical Laboratory Techniques ; Hepatitis B, Chronic ; Humans ; Laboratories ; Laboratories, Clinical ; Records

Aged ; Cholecystectomy, Laparoscopic ; methods ; Cholelithiasis ; complications ; diagnosis ; surgery ; Clinical Laboratory Techniques ; Coronavirus Infections ; complications ; diagnosis ; Elective Surgical Procedures ; methods ; Follow-Up Studies ; Humans ; Infection Control ; methods ; Male ; Pandemics ; Patient Safety ; Pneumonia, Viral ; complications ; diagnosis ; Postoperative Care ; methods ; Risk Assessment ; Singapore ; Treatment Outcome

Antibodies, Viral ; physiology ; Betacoronavirus ; physiology ; Clinical Laboratory Techniques ; Coronavirus Infections ; diagnosis ; Cross Reactions ; physiology ; Enzyme-Linked Immunosorbent Assay ; Fluorescent Antibody Technique, Indirect ; Humans ; Pandemics ; Pneumonia, Viral ; diagnosis ; SARS Virus ; physiology

Coronavirus disease 2019 (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 and was declared a global pandemic by the World Health Organization on 11 March 2020. A definitive diagnosis of COVID-19 is made after a positive result is obtained on reverse transcription-polymerase chain reaction assay. In Singapore, rigorous contact tracing was practised to contain the spread of the virus. Nasal swabs and chest radiographs (CXR) were also taken from individuals who were suspected to be infected by COVID-19 upon their arrival at a centralised screening centre. From our experience, about 40% of patients who tested positive for COVID-19 had initial CXR that appeared "normal". In this case series, we described the temporal evolution of COVID-19 in patients with an initial "normal" CXR. Since CXR has limited sensitivity and specificity in COVID-19, it is not suitable as a first-line diagnostic tool. However, when CXR changes become unequivocally abnormal, close monitoring is recommended to manage potentially severe COVID-19 pneumonia.
Adult ; Betacoronavirus ; Clinical Laboratory Techniques ; Coronavirus Infections ; complications ; diagnosis ; diagnostic imaging ; Female ; Humans ; Lung ; diagnostic imaging ; Male ; Middle Aged ; Pandemics ; Pneumonia, Viral ; complications ; diagnostic imaging ; Radiography ; Sensitivity and Specificity

Clinical Laboratory Techniques ; Coronavirus Infections ; diagnosis ; Hospitals, General ; Humans ; Pandemics ; Pneumonia, Viral ; diagnosis ; Singapore ; Virology ; methods