1.Comparison of agronomic traits of Panax notoginseng between traditional cultivated fields and new cultivated fields.
Dong-Mei ZHENG ; Li WANG ; Xiao-Hong OU ; Lan-Ping GUO ; Qing-Xiu HAO ; Da-Hui LIU ; Yan-Bo XIAO
China Journal of Chinese Materia Medica 2014;39(4):558-565
OBJECTIVEIn order to provide scientific basis for introduction breeding and production regionalization of Panax notoginseng, the environment of producing area, agronomic traits and medicinal material output were investigated.
METHODUsing field survey sampling at harvest time, agronomic traits indicators of leaf segment, stem segment and roots segment etc. of commodity P. notoginseng, longitude and latitude, elevation, soil type, landform of producing area were measured and observed.
RESULTThe P. notogiseng cultivation was expanding from traditional area like Wenshang to new areas as Honghe, Kunming, Qujing at large scale. Comparing with traditional cultivated fields, the elevation of new fields, which are red soil of moderate or low mountain slopes and gentle hills between 1 800-2 130 m, increases markedly. The agronomic traits of new cultivated fields such as plant height, stem diameter, the ground and underground biomass were better than those of traditional cultivated fields in varying degree. Furthermore, the root weight, taproot weight, taproot length and other agronomic index augmented more than 20%. Comparison among different cultivated fields showed P. notoginseng of Honghe Shiping Niujie, Kunming Shilin Guishan, Honghe Jiangshui Guanting etc. had better agronomic traits, the plant were thick and tall, the taproot and the top of reed were large, the number of root was more. Inversely, P. notoginseng of Kunming Guandu Xiaoshao, Guangxi Jingxi Lutong, Wenshang Yanshan Jiangna were thin and small. Cluster analysis showed that cultivated fields of P. notoginseng which was across clustered by traditional and new cultivated fields can be divided into three groups, including a high-yielding region insist of three new cultivated fields Honghe Shiping Niujie, Kunming Shilin Guishan, Honghe Jiangshui Guanting and one traditional cultivated field Wenshan Yanshan Jiangna. Correlation analysis indicated that the size and weight of taproot and top of reed were significantly positive correlated with plant height, stem diameter, leaf size, leaf weight and stem weight. Regression analysis pointed out that stem diameter, leaf width, leaf length/width, leaf weight were the main factors affecting the dry weight of taproot, and the main factors influencing the dry weight of top of reed were plant height, petiole, leaf length, leaf width and other agronomic traits.
CONCLUSIONFrom agronomic traits, P. notoginseng in new cultivated fields were more robust than that in traditional fields, but besides the length of taproot, the difference of rest agronomic traits didn't reach the significant level. It is suggested that, in the west and the north of traditional area, the red soil land of moderate or low mountain slopes and gentle hills where the elevation is between 1 800-2 130 m is suitable for cultivating P. notoginseng. Honghe Shiping Niujie, Honghe Jianshui Guanting, Kuming Shilin Gongshan can be used as vital development area for commodity P. notoginseng.
Agriculture ; methods ; Breeding ; China ; Drugs, Chinese Herbal ; analysis ; Panax notoginseng ; chemistry ; classification ; genetics ; growth & development ; Quality Control ; Quantitative Trait Loci ; Soil ; chemistry
2.Risk factors for death in children with septic shock.
Ai-Rong HUANG ; Shi-Jun HE ; Yi-Mei JIN ; Hao-Mei YANG ; Xiao-Ou SHAN
Chinese Journal of Contemporary Pediatrics 2009;11(4):280-282
OBJECTIVETo identify the risk factors for death in children with septic shock.
METHODSClinical data of 53 children with septic shock admitted to the Yuying Children's Hospital between January 2006 and July 2008 were retrospectively studied. Risk factors for death were assessed using univariate analysis and logistic regression analysis.
RESULTSNineteen cases died out of 53 children with septic shock. Univariate analysis and logistic regression analysis showed that arterial blood pH value<7.0 (OR=89.66), hypotension (OR=84.00), the pediatric critical illness score<70 (OR=60.00), the number of organ dysfunction>or=3 (OR=38.98), incompletion of volume resuscitation within 6 hrs after shock (OR=26.41), and no administration of effective antibiotics within 1 hr after shock (OR=11.43) and of vasoactive drugs (OR=75.68) were risk factors for death in children with septic shock.
CONCLUSIONSA low arterial blood pH value (<7.0), hypotension, a pediatric critical illness score (<70) and the number of organ dysfunction>or=3 are related to a high mortality in children with septic shock. If the volume resuscitation can be completed within 6 hrs after shock, effective antibiotics can be administered within 1 hr after shock, and vasoactive drugs can be used properly, the outcome of children with septic shock may be improved.
Child ; Child, Preschool ; Female ; Humans ; Hydrogen-Ion Concentration ; Infant ; Logistic Models ; Male ; Risk Factors ; Shock, Septic ; metabolism ; mortality
3.Prospective comparison of ultrasonography, helical computed tomography, magnetic resonance imaging, and endoscopic ultrasonography in assessing locoregional invasion of primary pancreatic carcinoma.
Yan-Tao TIAN ; Cheng-Feng WANG ; Xin-Ming ZHAO ; Gui-Qi WANG ; Yang-Han OU ; Yu-Zhi HAO ; Yan CHEN ; Hong-Mei ZHANG ; Ping ZHAO
Chinese Journal of Oncology 2008;30(4):270-273
OBJECTIVETo evaluate prospectively the efficacy and clinical significance of ultrasonography (US), helical computed tomography (HCT), endoscopic ultrasonography (EUS) and magnetic resonance imaging (MRI) in assessing locoregional invasion to the surrounding tissue or organs of primary pancreatic carcinoma.
METHODSSixty-eight consecutive patients with pancreatic carcinoma underwent US, HCT, EUS and MRI examinations before surgical exploration. All imaging results in terms of tumor size and locoregional invasion were assessed separately by two diagnostic radiologists and compared with the surgical and pathological findings.
RESULTSAmong the HCT, US, EUS and MRI examinations, EUS had the highest accuracy in assessing tumor size with a regression coefficient for the maximal and minimal diameter of 1.0250 (P = 0.0426) and 0.9873 (P < 0.0001), respectively. In the assessment of locoregional invasion to the surrounding tissue or organs, EUS also had the highest accuracy (75.8%) and sensitivity (80.0%), but MRI had the highest positive predicting value (97.4%). None of these four imaging techniques was significantly correlated with the surgical findings when analyzed by univariate logistic regression.
CONCLUSIONEndoscopic ultrasonography may be the most useful imaging technique in assessing tumor size, but for assessing loco-regional invasion of primary pancreatic carcinoma, combination of more than one imaging techniques may be necessary.
Adult ; Aged ; Diagnostic Imaging ; methods ; Endosonography ; Female ; Humans ; Logistic Models ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neoplasm Invasiveness ; pathology ; Pancreatic Neoplasms ; diagnostic imaging ; pathology ; surgery ; Prospective Studies ; Radionuclide Imaging ; Tomography, Spiral Computed ; Tumor Burden
4.Effects of a high-carbohydrate diet on the serum lipid and apolipoprotein ratios in healthy young adults with different genotypes of APOA1 -75 G/A polymorphism.
Yong-Yan SONG ; Guo-Jin OU ; Ren-Rong GONG ; Zhen ZHANG ; Min-Shan HU ; Mei FAN ; Yuan-Hao LI ; Ding-Zhi FANG
Acta Academiae Medicinae Sinicae 2012;34(1):1-7
OBJECTIVETo investigate the effects of a high-carbohydrate diet on the lipid and apolipoprotein ratios in healthy young adults with different genotypes of the polymorphism at -75 site in the promoter region of the gene of apolipoprotein AI (APOA1).
METHODSFifty-six subjects aged (22.89 +/- 1.80) years were given a wash-out diet for 7 days, followed by a high-carbohydrate diet for 6 days. The wash-out diet contained 15% protein, 31% fat, and 54% carbohydrate. The high-carbohydrate diet contained 15% protein, 15% fat, and 70% carbohydrate. Twelve-hour fasting serum lipids and apolipoproteins B100 and AI were measured on the mornings of the 1st, the 8th, and the 14th days from the beginning of the wash-out diet. The ratios of triglyceride (TG)/high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC)/HDL-C, low-density lipoprotein cholesterol (LDL-C)/HDL-C, and apolipoprotein B100 (APOB100)/apolipoprotein AI (APOAI) were calculated. The genome DNA was extracted and the polymorphism of APOA1 -75 G/A was determined by polymerase chain reaction followed by restriction fragment length polymorphism assay.
RESULTSAt baseline, the lipid and apolipoprotein ratios showed no significant differences between the GG genotype and the A carriers in males (P > 0.05), whereas the female A carriers had a significantly higher ratio of LDL-C/ HDL-C compared with the female subjects with the GG genotype (P < 0.05). Following the high-carbohydrate diet, significant decreases of TC/HDL-C were found in all the groups, regardless of sex and genotype (P < 0.01). LDL-C/HDL-C experienced significant decreases in both the genotypes in males (P < 0.05), while in females, significant decrease of LDL-C/HDL-C was only observed in A carriers (P < 0.01).
CONCLUSIONThe A allele of the -75 G/A polymorphism in APOA1 may have specific effects on the LDL-C/HDL-C ratio in females.
Adult ; Apolipoprotein A-I ; genetics ; Apolipoproteins ; blood ; Dietary Carbohydrates ; metabolism ; Female ; Genotype ; Humans ; Lipids ; blood ; Male ; Polymorphism, Genetic ; Young Adult
5.A case control study on the relationship between trace elements and human neural tube defects.
Wei ZHANG ; Ai-guo REN ; Li-jun PEI ; Ling HAO ; Yang-li OU ; Xin-yan ZHONG ; Fei-ran ZHANG ; Ci-hui DIAO ; Wei-bo LUO ; Lin-zi ZHOU ; Mei-lin ZHANG ; Zhu LI
Chinese Journal of Epidemiology 2005;26(10):772-776
OBJECTIVETo explore the relationship between multi-trace elements levels in hair and human neural tube defects as well as other risk factors.
METHODSUsing 88 paired cases and controls, an 1:1 matched case control study was carried out. The study subjects were collected from the China-U. S. Collaborative Project on Neural Tube Defects Prevention and Birth Defects Surveillance System. Risk factors were obtained by field investigation with standardized questionnaires and hair trace elements levels were determined by AAS and ICP-MS methods. Microwave digestion was used to digest hair samples. The detected elements would include three groups, namely nutritional elements: Cr, Mn, Cu, Zn, Co, Mo; toxic elements: Pb, As, Cd, Hg; and Lanthanons: Y, La, Pr, Nd. Cox Proportional Hazard Regression Model was used to perform risk factors analysis.
RESULTSPregnancy fever appeared to be a risk factor of neural tube defects (OR = 6.525, P = 0.034) while hair zinc level (OR = 0.541 microg/100 g, P = 0.02) and times of prenatal physical examination (OR = 0.634, P < 0.001) served as two protective factors appeared in the last model.
CONCLUSIONZinc deficiency might serve as a risk factor for human neural tube defects, suggesting that the avoidance of pregnancy infection together with more periodical prenatal physical examination might reduce the incidence of neural tube defects.
Adult ; Analysis of Variance ; Case-Control Studies ; Diet ; Female ; Hair ; metabolism ; Humans ; Infant, Newborn ; Logistic Models ; Male ; Neural Tube Defects ; etiology ; metabolism ; Pregnancy ; Pregnancy Complications ; metabolism ; Prenatal Care ; Risk Factors ; Surveys and Questionnaires ; Trace Elements ; metabolism
6.MFN1 ubiquitination mediates lipopolysaccharide-induced mitochondrial dysfunction and pyroptosis in Raw264.7 mouse macrophages
Jian MEI ; Xiangrui ZHU ; Langlin OU ; Zhaosi WANG ; Lixin ZHANG ; Yueshan LYU ; Xiaoying WANG ; Siyu HE ; Jun′e BAI ; Hao YUAN ; Xiaoyu GUAN ; Cui MA
Chinese Journal of Microbiology and Immunology 2022;42(9):705-713
Objective:To investigate the regulatory effects of mitofusin 1 (MFN1) on lipopolysaccharide (LPS)-induced Raw264.7 mouse macrophages pyroptosis and to provide reference for further study on the prevention of inflammation and fibrosis caused by macrophage dysfunction.Methods:Raw264.7 mouse macrophages were cultured in vitro and used to construct a model of LPS-induced pyroptosis. CCK-8 staining, PI staining, LDH release assay and Western blot were used to verify the Raw264.7 pyroptosis induced by LPS. MFN1 expression was detected by Western blot. DCFH-DA probe was used to detect the synthesis of total reactive oxygen species (ROS); Mito-SOX was used to detect mitochondrial ROS; JC-1 mitochondrial membrane potential was detected by fluorescence probe to reflect mitochondrial damage. Based on Ubibrowser database, it was predicted that MFN1 could bind to a variety of E3 ubiquitin ligases. Then, immunofluorescence and co-immunoprecipitation (CO-IP) were used to analyze MFN1 ubiquitination. An overexpression plasmid for MFN1 was constructed and transfected into Raw264.7 cells to detect the changes in pyroptosis and mitochondrial function. Results:LPS could induce the pyroptosis of Raw264.7 cells and mitochondrial dysfunction. MFN1 expression was decreased after LPS stimulation. Ubiquitinated MFN1 was detected by CO-IP. Ubiquitination inhibitor MG-132 inhibited LPS-induced expression of pyroptosis-related proteins including NLRP3, Pro-caspase-1, Caspase-1, IL-1β and IL-18 and improved mitochondrial function. MFN1 overexpression relieved the mitochondrial dysfunction and pyroptosis of Raw264.7 cells induced by LPS.Conclusions:The ubiquitination of MFN1 induced by LPS was involved in mitochondrial dysfunction and macrophage pyroptosis, suggesting that MFN1 was a potential target for the treatment of macrophage-induced inflammation and related diseases.
7.Status of antibiotic use in hospitalized children with community-acquired pneumonia in multiple regions of China.
Wei WEI ; Xue-Feng WANG ; Jian-Ping LIU ; Kun-Ling SHEN ; Rong MA ; Zhen-Ze CUI ; Li DENG ; Yan-Ning LI ; Zhi-Yan JIANG ; Hua XU ; Li-Ning WANG ; Xiao-Chun FENG ; Zhen-Qi WU ; Zhao-Lan LIU ; Yan HUANG ; Chun-Hui HE ; Hua LIU ; Xue ZHAO ; Zi WANG ; Ou-Mei HAO
Chinese Journal of Contemporary Pediatrics 2019;21(1):11-17
OBJECTIVE:
To investigate the use of antibiotics in children with community-acquired pneumonia (CAP) in multiple regions of China, and to provide a reference for CAP standard treatment and rational antibiotic use in children.
METHODS:
The medical data of 1 383 children with CAP who were hospitalized in the department of pediatrics in 10 grade A tertiary hospitals from 9 cities between April 14, 2014 and January 1, 2016 were reviewed, to analyze the status of antibiotic use in hospitalized children in North China, Northeast China, East China, and South China.
RESULTS:
The overall rate of antibiotic use in children with CAP was 89.08%, with 88.7% in North China, 95.5% in Northeast China, 83.3% in East China, and 86.6% in South China. The main types of antibiotics used were cephalosporins, macrolides, compound preparations of β-lactam antibiotics, polyphosphoric broad-spectrum antibiotics and other β-lactam antibiotics. The selection of antibiotics was generally rational, but antibiotics were still used in some patients with viral infection alone or a combined use of ≥2 kinds of antibiotics were noted in some patients with infection caused by one kind of pathogen. Irrational antibiotic use was observed in 131 children (10.63%).
CONCLUSIONS
There are high rates of antibiotic use and irrational use of antibiotics among children with CAP. Standard management of antibiotic use in children with CAP should be strengthened.
Anti-Bacterial Agents
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therapeutic use
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Child
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Child, Hospitalized
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China
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Community-Acquired Infections
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drug therapy
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Humans
8.Effects of apolipoprotein A1 gene rs670 and rs5069 polymorphisms on the plasma lipid profiles in healthy adolescents with different body mass index.
Yong-yan SONG ; Ren-rong GONG ; Zhen ZHANG ; Yuan-hao LI ; Mei FAN ; Guo-jin OU ; Ding-zhi FANG
Acta Academiae Medicinae Sinicae 2014;36(4):369-376
OBJECTIVETo investigate the possible effects of apolipoprotein A1 gene (APOA1) rs670 and rs5069 polymorphisms on plasma lipid profiles in healthy adolescents with different body mass index (BMI).
METHODSTotally 723 adolescents were divided into four groups according to their BMI: group 1[BMI =(17.80 ± 0.75)kg/m2], group 2[BMI = (19.39 ± 0.32) kg/m²], group 3[BMI = (20.68 ± 0.43) kg/m²], and group 4[BMI=(23.40 ± 2.05) kg/m²]. Height, weight, waist circumference, hip circumference, blood pressure, heart rate, plasma lipids, and blood glucose were determined, BMI and waist to hip ratio (W/H ratio) were calculated,and genome DNA was extracted for analyzing the genotypes of the APOA1 rs670 and rs5069 polymorphisms by polymerase chain reaction-restriction fragment length polymorphism.
RESULTSNo significant differences in height, weight, BMI, waist circumference, hip circumference, W/H ratio, blood pressure, heart rate, plasma lipids, and blood glucose between APOA1 rs670 or rs5069 genotypes were observed among group 1, group 2, and group 3. In group 4, A carriers of the rs670 polymorphism had significantly higher systolic blood pressure (P=0.017) and blood glucose levels (P=0.009) than the adolescents with the GG genotype. T carriers of the rs5069 polymorphism had significantly higher height (P=0.013), weight (P=0.011), and hip circumference (P=0.026) than the adolescents with the CC genotype.
CONCLUSIONSIn healthy adolescents with higher BMI, APOA1 rs670 polymorphism is associated with systolic blood pressure and blood glucose levels. The elevation of systolic blood pressure and blood glucose levels in A carriers of APOA1 rs670 polymorphism may be favorably modulated by weight loss.
Adolescent ; Apolipoprotein A-I ; genetics ; Body Mass Index ; Female ; Humans ; Lipids ; blood ; Male ; Polymorphism, Genetic
9.A monogenic lupus family caused by homozygous deletions of DNASE1L3 gene and literature review.
Wei WANG ; Xiao Lin LI ; Wen Dao LI ; Jun Bin OU ; Si Hao GAO ; Cai Hui ZHANG ; Yu Ling LIU ; Zhi Cai SUN ; Ming Sheng MA ; Hong Mei SONG
Chinese Journal of Pediatrics 2022;60(12):1276-1281
Objective: To report the clinical features and genetic variations of monogenic lupus caused by DNASE1L3 deficiency and to introduce preliminary experience on diagnosis and treatment for this disease. Methods: Clinical data of 3 children from the same pedigree were collected who were diagnosed with DNASE1L3 defect-associated monogenic lupus in August 2020 by Department of Pediatrics, Peking Union Medical College Hospital referred from Department of Pediatrics, Boai Hospital of Zhongshan. DNA was extracted from the peripheral blood of the patients and their parients to perform genetic analysis and confirmation. Six interferon-stimulated genes were relatively quantified to examine the activation of the type I interferon signaling. "DNASE1L3" "systemic lupus erythematosus" and "SLE" were searched in PubMed, Wangfang Data, CNKI databases for related reports from database established date to June 2022. Spectrum of genetic variations and clinical phenotypes were analyzed in combination with this pedigree. Results: Case 1, a 14-year-old girl with edema, hematuria, and heavy proteinuria, presented with membranous nephropathy. Case 2, the 12-year-old younger brother of case 1 with hematologic, cardiac, pulmonary, renal involvement, positive antinuclear antibody, positive anti-double-stranded DNA antibody and low complement C3, manifested with systemic lupus erythematosus. Case 3, the 8-year-old younger sister of case 1 with hematologic, cardiac, pulmonary and renal involvement, positive antinuclear antibody, positive anti-double-stranded DNA antibody, and low complement C3 and C4, manifested with systemic lupus erythematosus. Genetic testing revealed that all 3 patients carried homozygous deletions in exons 3 and 4 on DNASE1L3 gene. Interferon scores were elevated in case 1, 2 and their parents but normal in case 3. All 3 patients were diagnosed with monogenic lupus caused by DNASE1L3 defects. Literature searching identified 10 relevant publications in English and 0 publication in Chinese, involving 42 patients from 18 pedigrees (including the 3 cases from this pedigree). Nine variants were found: c.289_290delAC (p.T97Ifs*2), c.643delT (p.W215Gfs*2), c.320+4delAGTA, c.321-1G>A, Ex5 del, c.433G>A, c.581G>A (p.C194Y), c.537G>A (p.W179X), and Ex3-4 del. The hotspot variants were c.643delT (43% (36/84)) and c.289_290delAC (36% (30/84)). Kidney was affected in 31 cases (74%) of the 42 cases. Among the 25 patients, joints were affected in 16 cases (64%), fever were reported in 13 cases (52%) hematologic system was involved 13 cases (52%), rash was present in 10 cases (40%), intestinal tract was involved in 8 cases (32%), lungs were involved in 6 cases (24%), eyes were involved in 4 cases (16%), and the heart was involved in 4 cases (16%). The 2 cardiopulmonary affected patients from literature showed poor prognosis, with 1 died, and 1 right heart failure. Conclusions: The clinical manifestations of monogenic lupus caused by DNASE1L3 defect are highly heterogenous, primarily with renal, blood, joint, intestinal, and cardiopulmonary involvement. There is no correlation between the genotype and the phenotype. DNASE1L3 defects were predominantly mediated by null varations including nonsense, splicing, frameshift and exon deletions. The hotspot variants are c.643delT and c.289_290delAC. DNASE1L3 defects should be cautioned in early-onset lupus-like patients with renal, joint and hematologic involvement. Cardiopulmonary involved patients require close monitoring for poor prognosis. Copy number variations should be carefully analyzed after negative whole exome sequencing.
Male
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Child
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Humans
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Homozygote
;
Complement C3
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Antibodies, Antinuclear
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DNA Copy Number Variations
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Sequence Deletion
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Interferons
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Lupus Erythematosus, Systemic/genetics*
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Antiviral Agents
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Endodeoxyribonucleases
10.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
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Child
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China/epidemiology*
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Cryptorchidism/genetics*
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Disorders of Sex Development/genetics*
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Female
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Genital Diseases, Male
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Genotype
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Humans
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Hypospadias/genetics*
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Male
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Membrane Proteins/genetics*
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Penis/abnormalities*
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Phenotype
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Retrospective Studies
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Steroid 21-Hydroxylase/genetics*