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

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

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*

COVID-19 Nucleic Acid Testing/methods* ; Clinical Laboratory Techniques ; Containment of Biohazards ; Disinfection ; Environmental Monitoring ; Humans ; Nucleic Acids/isolation & purification* ; SARS-CoV-2/isolation & purification* ; Specimen Handling

OBJECTIVE: To early differentiate between coronavirus disease 2019 (COVID-19) and adult mycoplasma pneumonia with chest CT scan. METHODS: Twenty-six patients with COVID-19 and 21 patients with adult mycoplasma pneumonia confirmed with RT-PCR test were enrolled from Zibo First Hospital and Lanshan People's Hospital during December 1st 2019 and March 14th 2020. The early chest CT manifestations were analyzed and compared between the two groups. RESULTS: The interstitial changes with ground glass density shadow (GGO) were similar in two groups during first chest CT examination (>0.05). There were more lung lobes involved on the first chest CT in COVID-19 patients, which were mostly distributed in the dorsal outer zone (23/26, 88.5%), and nearly half of them (12/26, 46.2%) were accompanied by crazy-paving sign; while the lesions in adult mycoplasma pneumonia patients were mostly distributed along the bronchi, and the bronchial wall was thickened (19/21, 90.5%), accompanied with tree buds / fog signs (19/21, 90.5%). The above CT signs were significantly different between the two kinds of pneumonia (all <0.01). COVID-19 had a longer course compared with mycoplasma pneumonia, the disease peaks of COVID-19 patients was on day (10.5±3.8), while the disease on CT was almost absorbed on day (7.9±2.2) in adult mycoplasma pneumonia. The length of hospital stay in COVID-19 patients was significantly longer than that of mycoplasma pneumonia patients [(19.5±4.3) d vs (7.9±2.2) d, <0.01]. CONCLUSIONS The lesions of adult mycoplasma pneumonia are mostly distributed along the bronchi with tree buds/fog signs, while the lesions of COVID-19 are mainly distributed in the dorsal outer zone accompanied by crazy-paving sign, which can early distinguish two diseases.
Adult ; Betacoronavirus ; Clinical Laboratory Techniques ; standards ; Coronavirus Infections ; diagnosis ; diagnostic imaging ; Diagnosis, Differential ; Humans ; Lung ; diagnostic imaging ; Pandemics ; Pneumonia, Mycoplasma ; diagnostic imaging ; Pneumonia, Viral ; diagnostic imaging ; Tomography, X-Ray Computed

OBJECTIVE: To investigate the clinical outcome of patients with moderate type of corona virus disease 2019 (COVID-19) after discharge by retesting viral nucleic acid. METHODS: Seven patients with moderate COVID-19 met the discharge criteria enacted by National Health Commission were quarantine in hospital for 7 days, then continuously quarantined at home for 4 weeks after discharged. During the three weeks of quarantined period, the symptoms and signs were documented; and sputum or nasal swab and feces samples were collected to test SARS-COV-2 nucleic acid by RT-PCR method. RESULTS: There were no symptoms and signs during the quarantine period in all 7 patients. However, respiratory swabs from 3 patients were confirmed positive of SARS-COV-2 nucleic acid at 5 to 7 days after they met the discharge criteria. CONCLUSIONS The study indicates that there is a relatively high incidence of positive viral nucleic acid in patients met the discharge criteria, and it is suggested that patients met the current discharge criteria should be quarantined in hospital for another 7 days and the follow-up viral testing is necessary.
Asymptomatic Diseases ; Betacoronavirus ; genetics ; China ; Clinical Laboratory Techniques ; Coronavirus Infections ; diagnosis ; virology ; Follow-Up Studies ; Humans ; Pandemics ; Patient Discharge ; standards ; Pneumonia, Viral ; diagnosis ; virology ; Quarantine ; Reverse Transcriptase Polymerase Chain Reaction ; Time Factors

OBJECTIVE: To explore the feasibility of surgical treatment for cancer patients complicated with corona virus disease 2019 (COVID-19). METHODS: The management and clinical outcome of a sigmoid cancer patient with COVID-19 were analyzed. RESULTS: The inflammation indicators and fever of this patient were effectively controlled and the lung lesions remained stable after active anti-viral treatment, then the radical colorectomy was performed after the viral negative conversion for twice. CONCLUSIONS The case indicates that it may feasible to undergo radical tumor surgery for cancer patients with COVID-19 after the virus nucleic acid testing turns negative and more studies are needed to confirm this conclusion.
Antiviral Agents ; therapeutic use ; Betacoronavirus ; Clinical Laboratory Techniques ; Colonic Neoplasms ; complications ; surgery ; virology ; Coronavirus Infections ; complications ; diagnosis ; drug therapy ; Fever ; Humans ; Nucleic Acid Amplification Techniques ; Pandemics ; Pneumonia, Viral ; complications ; diagnosis ; drug therapy