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

Objective:To analyze the epidemiological and clinical characteristics of patients with tsutsugamushi disease in Hainan Province, so as to provide basis for diagnosis, treatment, prevention and control of the disease.Methods:Clinical data of 93 patients with tsutsugamushi disease in the Second Affiliated Hospital of Hainan Medical University from January 2018 to December 2019 were collected. Epidemiological data, clinical manifestations, examination results, treatment and outcome of the patients were retrospectively analyzed.Results:Of totally 93 patients with tsutsugamushi disease, 48 were male and 45 were female, with an average age of 50.73 years old. The peak time of onset was from June to October, with 46 cases (49.46%). Seventy cases (75.27%) were farmers, and 84 cases (90.32%) had a clear history of field work or grassland contact before onset. The clinical manifestations were fever (93/93, 100.00%), eschar or ulcer (42/93, 45.16%), headache (65/93, 69.89%), chills (60/93, 64.52%), rash (35/93, 37.63%), lymphadenopathy (51/93, 54.84%) and fatigue (40/93, 43.01%). Laboratory examination results: eosinophil reduced (74/93, 79.57%), platelet reduced (32/93, 34.41%); alanine aminotransferase, C reactive protein (CRP), procalcitonin (PCT) and erythrocyte sedimentation rate (ESR) were increased in 81.72% (76/93), 97.85% (91/93), 20.43% (19/93) and 72.04% (67/93) of the patients, respectively. Eighty-four cases (90.32%) had abnormal results of chest imaging. All patients were cured by doxycycline.Conclusions:Tsutsugamushi disease is prevalent in summer and autumn in Hainan. It has various clinical manifestations. Doxycycline is an effective treatment drug. It is suggested that the relevant departments should strengthen the training of clinical diagnosis and treatment of tsutsugamushi disease by local clinicians to reduce the misdiagnosis rate.

Objective To analyze the influence of validating the parental origin to the interpretation of clinical pathogenicity of total 54 copy number variations(CNV)with different clinical significance in 46 patients undergo chromosomal microarray analysis(CMA).Methods A retrospective study.This study enrolled 46 patients conducted in Department of Pediatric Endocrinology and Genetics of Shanghai Xinhua Hospital during the period of August 2014 to December 2015,involving 54 different CNVs detected by CMA.The parental origin of CNVs was examined by CMA or quantitative real-time polymerase chain reaction.Results Totally 54 different CNVs were found in 46 patients by CMA.Seventeen out of the 54 CNVs were pathogenic variations.After validating the parental origin,14 CNVs were proved de novo mutation,while 3 CNVs have maternal origin including 1q21.1 deletion syndrome,Xq27.3q28 and Xq22.1q22.3 duplications which inherited from maternal X chromosome.CNVs of 1q21.1 deletion syndrome often inherited from parents,and no phenotype appears on mother which may be due to the deactivation mechanism of duplications on mother′s X chromosome.Therefore,these 17 pathogenic variations were still considered to be clinical pathogenic significance after validating the parental origin.Ten out of 54 CNVs were variants of uncertain significance-likely pathogenic.After parental original validation,3 CNVs were proved de novo mutation considering likely pathogenic significance,while 7 CNVs have parental origin still judged to be unknown clinical pathogenicity.Twenty-seven out of 54 CNVs were variants of uncertain significance.After validating the parental origin,only 1 CNV was proved de novo mutation considering likely pathogenic significance,while all the others had parental origin considered to be variations likely benign.Conclusion CNVs reported as likely pathogenic should be validated the parental origin in order to further study their clinical pathogenicity,while variants of uncertain significance can preliminary clear its nature by validating parental origin.

Copy number variations in the human genome,one of the causes of complex diseases and genetic diseases,can lead to genomic disorders.As these diseases are difficult to diagnose,it is significantly meaningful to conduct genetic researches and molecular diagnosis.Chromosomal microarray can be used to detect copy number variations on a genome-wide scale.With the advantage of high throughput and resolution,chromosomal microarray is perceived as an important means of identifying copy number variations in genomic disorders.As technology advancements of chromosomal microarray and accumulations of clinical experiences,chromosomal microarray has played a significant role in etiological diagnosis of multiple malformations,mental retardation and autism.

Objective To investigate the significance of detection of Serum anti‐Helicobacter pylori(HP)and pepsinogen(PG) in patients with reflux esophagitis(RE) .Methods 118 RE patients (RE group) ,60 patients with other other gastropathy (other gas‐tropathy group) and 60 healthy subjects (healthy group) were detected serum HP antibodies ,PG levels ,compared serum PGⅠ ,PGⅡ level ,PGR and HP antibody positive rate between the RE group ,the other gastropathy group and the healthy group ,between the patients at different pathological degrees of the RE group .Results The levels of PG Ⅰ ,PGR and HP antibody positive rate of the RE group were lower than those of the other gastropathy group and the healthy group ,the healthy group was lower than the other gastropathy group ,the difference was statistically significant (P<0 .05) ,and compared with the control group ,there was no signifi‐cant difference in serum PG Ⅱ levels (P>0 .05);The serum PGⅠ level ,PGR and HP antibody positive rate of patients in grade A , B of the RE group were lower than those of the patients in grade C ,D (P<0 .05) ,the difference was statistically significant ,and there was no statistical significance in serum PG Ⅱ levels of the patients in grade C ,D (P>0 .05) .Conclusion The serum PGⅠlevel ,PGR and HP antibody positive rate of the patients with RE decrease ,HP infection is a protective mechanism of RE ,the dis‐ease exacerbates with the infection decreases ,detection of serum HP antibody and the level of PG has important clinical value in the diagnosis and prognosis of RE .

Objective To investigate the clinical value of NT‐proBNP and cTnI detection in the diagnosis and treatment of con‐gestiveheartfailure.Methods 198patientswithcardiovascularwereastheresearchobjects,95caseswithHFwereasHFgroup, 103 caseswithout HF were as control group ,compared left ventricular ejection fraction (LVEF) and serum NT‐proBNP ,cTnI levels of patients ,and compared LVEF ,serum NT‐proBNP ,cTnI levels of patients with different cardiac functions ,analysed the correla‐tion between serum NT‐proBNP ,cTnI levels and LVEF in patients with HF ,and analysed the diagnosic value of NT‐proBNP ,cTnI combined detection and single detection on HF .Results LVEF and serum NT‐proBNP ,cTnI levels of the HF group were higher than those of the control group(P<0 .05) ,LVEF of the HFgroup decreased significantly when cardiac function classification in‐creased ,serum NT‐proBNP ,cTnI levels increased significantly ,there were statistically significant differences in the indices between the three groups(P<0 .05) ,serum NT‐proBNP ,cTnI was inversely related to the level of LVEF (r= -0 .536 ,-0 .328 ,P<0 .05);proBNP ,the specificity ,positive predictive value and accuracy in the diagnosis of HF byproBNP 、cTnI combined detection improved obviously than the single detection ,compared with cTnI the specificity ,accuracy rate ,there was difference significant(χ2 =4 .595 , 21 .648 ,P=0 .032 ,0 .000) .Conclusion It has important clinical value Serum NT‐proBNP ,cTnI levels detection for the diagnosis and judgment of HF .

Objective To investigate the Relationship between the CYP2C19 polymorphism and the efficacy of triple therapy with lansoprazole on Helicobacter pylori infection. Methods 125 elderly patients diagnosed with H.pylori infection were treated with triple therapy. Polymorphism of CYP2C19 was measured by AS-PCR. 105 young patients were selected as control group. The relationship between the polymorphism and eradication rate were analyzed. Results Among the 125 patients,eradication rate of extensive metabolizer group,internal metabolizer group and poor metabolizer groups was 85.29%,76%and 89.39%, respectively. There was no significant difference between groups (P > 0.05). Eradication rate showed no difference between experimental and control group either (P>0.05)(P>0.05). Conclusion The results suggests that the CYP2C19 polymorphism has no correlation with the eradication rate of Helicobacter pylori infection by triple therapy with lansoprazole in elderly patients.

OBJECTIVE: To study the expression of intedeukin-5 (IL-5) mRNA and protein in Nasal polyps and in the inferior turbinate, and to explore the relationship between the expression and the Clinical features. METHOD: Real time fluorescent quantitative PCR(RT-qPCR) and immunohistochemical staining were used to detect the expression of intedeukin-5 (IL-5) mRNA and protein in nasal polyps of 24 cases and in inferior turbinate of 15 cases. RESULT: The expression of IL-5 mRNA in Nasal polyps was 7.52 times higher than that in the inferior turbinate (P < 0.01). The expression rate of IL-5 protein in Nasal polyps was 79.17%, significantly higher than that in the inferior turbinate (26.67%) (chi2 = 10.52, P < 0.01). The differece of expression of IL-5 mRNA was not associated with the sexual distinction, unilateral or bilateral nasal polyps and primary or recurrent nasal polyps (P > 0.01), but was associated with the single or multiple nasal polyps, nasal polyps with or without allergic rhinitis and/or asthma. The differece of expression of IL-5 protein was not associated with the sexual distinction, unilateral or bilateral nasal polyps, primary or recurrent nasal polyps, nasal polyps with or without allergic rhinitis and/or asthma, but was associated with the single and multiple nasal polyps. CONCLUSION The high expression of IL-5 mRNA and protein is closely related with the formation edema and development of nasal polyps. Some clinical features of Nasal polyps related to the expression level of IL-5 in nasal polyps.
Female ; Humans ; Interleukin-5 ; genetics ; metabolism ; Male ; Nasal Polyps ; metabolism ; RNA, Messenger ; genetics ; Turbinates ; metabolism

10.3969/j.issn.1000-3606.2013.06.019

Objective To investigate the expression change of ghtathione S-transferase π(GSTπ)protein and mRNA in the HepG2 cell after multiple thermotherapy.Methods HepG2 cells were treaded by ten repeated cycles of exposure at 43 degree C for 80 minutes twice a day，the sensibility of HepG2 cell to Adriamycin was analyzed by MTr assay，and the expression of QSTπprotein and mRNA were detected by immunohistochemical method and RT-PCR.Results The drug resistance to Adriamycin was gained by HepG2 cells after multiple thermotherapy，and the expression of GSTπ protein and mRNA wag strengthened.Conclusions The resistance of heated HepG2 cells to chemotherapeutics was concerned with overexpression of GSTπ protein and mRNA.