1.The Analgesia of Oxymatrine Affecting Calcium Channel and GABA Release.
Xiao-qiang LU ; Li YANG ; Yang-ou DENG ; Shi-xing WU ; Yong-gang LIU
Chinese Journal of Integrated Traditional and Western Medicine 2015;35(5):603-607
OBJECTIVETo explore the analgesia of oxymatrine (OMT) affecting high voltage-dependent calcium channels (HVDCCs) and GABA release under neuropathic pain condition.
METHODSTotally 66 C57BL/6 mice were randomly divided into the sham-operation group, the model group, and the OMT group, 22 in each group. Neuropathic pain models were established by partial sciatic nerve ligation (PSNL). Hind paw plantar mechanical response threshold (MWT) was measured by up-and-down method with Von-Frey filament. mRNA expression of HVDCCs in brains and spinal cords was detected with Real-time PCR and concentration of GABA was determined using ELISA kit.
RESULTSCompared with day 0, the left hind paw MWTwas decreased on day 7, 10, and 14 in the model group (P < 0.05). Compared with the sham-operation group, the left hind paw MWT was significantly reduced in the model group on day 7 (P < 0.05). The MWT of PSNL ipsilateral hind paw was decreased on day 7 before OMT administration, when compared with day 0 (P < 0.05), and increased after OMT administration (P < 0.05). Compared with the sham-operation group, mRNA levels of Cav1.2, Cav1.3, Cav2.1, and Cav2.3 in brain tissues were increased and those of Cav2.2 were decreased significantly in the model group (P < 0.05). In spinal cord tissues, mRNA levels of Cav1.2 and Cav1.3 were increased, but those of Cav2.1, Cav2.2, and Cav2. 3 were decreased significantly in the model group, when compared with those of the sham-operation group (P < 0.05). Compared with the model group, mRNA levels of Cavl.2, Cavl.3, Cav2.1, and Cav2. 3 in brain tissues were decreased, and those of Cav2.2 were increased significantly in the OMT group (P < 0.05). In spinal cord tissues of the OMT group, mRNA levels of Cav1.3 decreased and those of Cav2.1, Cav2.2, and Cav2.3 increased significantly with statistical difference, when compared with those of the model group (P < 0.05). Compared with the sham-operation group, GABA levels in brain tissues decreased in the model group (P < 0.05). Compared with the model group, GABA levels in brain tissues increased in the OMT group (P < 0.05). There was no statistical difference in GABA levels of spinal cord tissues among these groups (P > 0.05).
CONCLUSIONSOMT had analgesic effect on neuropathic pain, which might be probably related to HVDDCs. Cav2.2 might directly affect GABA release.
Alkaloids ; pharmacology ; therapeutic use ; Analgesia ; methods ; Animals ; Calcium ; Calcium Channels ; drug effects ; metabolism ; Disease Models, Animal ; Mice ; Mice, Inbred C57BL ; Neuralgia ; drug therapy ; Pain Management ; Quinolizines ; pharmacology ; therapeutic use ; Spinal Cord ; metabolism ; gamma-Aminobutyric Acid
2.Treatment of deep wound infection with fibrin glue amikacin complex
Zhijian MA ; Hongchang YANG ; Zhong CHEN ; Zhaoxiang WU ; Tao LI ; Gang CHENG ; Peng LIAO ; Yi OU ; Canzhang LI ; Tao HAN
Chinese Journal of Trauma 2009;25(6):554-557
Objective To discuss the efficiency of fibrin glue amikacin complex in controlling infection by observing the changes of leukocyte and neutrophilic granulocyte classifying counts after fibrin glue amikacin complex treated deep wound. Methods Clinical case-control study was used in the study. All patients were divided randomly into test group (100 patients) and control group (100 pa-tients), matched by wound location, wound size, time from injury to operation, combined injury and gen-eral antibiotics use to compare leukocyte and neutrophilic granulocyte classifying counts between both groups and observe possible toxic and side-effect in test group. Results Firstly, the test group and control group had the comparability in aspects of gender distribution, average age and injury mechanism (P >0.05). Secondly, there was statistical difference in classifying counts of leukocyte and neutrophilic granulocyte in the test group at different time points (P <0.05). The classifying counts of leukocyte and neutrophilic granalocyte peaked at 24 hours after operation, then decreased with treatment time and reached the lowest at 24 days after surgery or at day 1 before discharge. Thirdly, there existed statistical significance upon leukocyte counts in the test group and control group except for at day 1 after operation (P > 0.05), with lower counts in test group than control group. In aspect of neutrophil classifying counts, there was statistical significance (P < 0.05) at other time points in beth groups except for time points at days 1,2 and 12 (P >0.05). The test group had lower neutrophil classifying counts compared with con-trol group at different time points. Conclusion The fibrin glue amikacin complex has good clinical effort and high security, with no toxic or side effort in treatment of deep wound infection, and is worth clinical applicaiton.
3.Clinical observation on acupuncture for treatment of male osteoporosis.
Gang OU-YANG ; Dong-Yan WANG ; Xiao-Mei XU
Chinese Acupuncture & Moxibustion 2011;31(1):23-25
OBJECTIVETo compare the therapeutic effects of acupuncture combined with drug and simple drug for treatment of male osteoporosis.
METHODSFifty-five cases were divided into an observation group (25 cases) and a control group (30 cases) randomly. The observation group was treated with acupuncture and moxibustion at Pishu (BL 20), Shenshu (BL 23), Mingmen (GV 4), Shenque (CV 8) and so on combined with taking Alendronate, while the control group was treated with taking Alendronate simply. The improvement of both Integral of Clinical Symptoms (ICS) and Bone Mineral Density (BMD) of two groups was observed after 6 months treatment.
RESULTSThe ICS of two groups after treatment both decreased significantly (both P < 0.001), and the decreasing degree in observation group was more significant than that in control group (P < 0.001). The BMD of lumbar vertebrae and femur in observation group increased obviously than that before treatment (P < 0.01, P < 0.05). The increasing degree of BMD of lumbar vertebrae in observation group after treatment was more obvious than that in control group (P < 0.05). There were abdominal pain, diarrhea, nausea, vomiting, dyspepsia and other adverse reaction in control group, while the degree and occurrence rate of those in observation group alleviated and decreased obviously.
CONCLUSIONThe effect of acupuncture combined with drug for treatment of male osteoporosis is good with little adverse reaction. This method is better than taking Alendronate.
Acupuncture Points ; Acupuncture Therapy ; Aged ; Bone Density ; Humans ; Male ; Middle Aged ; Moxibustion ; Osteoporosis ; physiopathology ; therapy
4.Immunogenicity of insulin producing cells differentiating from human umbilical cord mesenchymal stem cells
Lan-Lan LI ; Ning LI ; Xiao-Fei YANG ; Tao CHEN ; Gang-Wei OU ; Fu-Rong LI
Chinese Journal of Tissue Engineering Research 2018;22(13):2045-2050
BACKGROUND: Human umbilical cord mesenchymal stem cells (hUC-MSCs) have low immunogenicity and it is unclear whether insulin producing cells (IPCs) that differentiate from hUC-MSCs have low immunogenicity. OBJECTIVE:To investigate the immunogenicity of IPCs differentiating from hUC-MSCs in vitro and after IPCs transplantation into the host. METHODS: (1) The hUC-MSCs were induced to differentiate into IPCs according to the modified scheme. Flow cytometry assay was used to detect the immunophenotype and apoptotic rate of IPCs in a cytotoxicity test. (2) Cell counting kit-8 was used to detect the proliferative capacity of human peripheral blood mononuclear cells in the one-way mixed lymphocyte assay. (3) The IPCs were then transplanted into the abdominal cavity and left renal capsule of mice, and then the infiltration of immune cells was detected by flow cytometry and immunohistochemistry. RESULTS AND CONCLUSION: The IPCs highly expressed HLA-ABC and lowly expressed HLA-DR, CD40 and CD80. The apoptosis rate of IPCs increased with the increase of pre-sensitized splenocytes in the cytotoxicity test. In the one-way mixed lymphocyte assay, IPCs inhibited the proliferation of human peripheral blood mononuclear cells when the target ratio was 10:1 and 50:1. After IPCs transplantation, the number of lymphocytes was increased in the transplanted site. In summary, our results show that IPCs that differentiate from hUC-MSCs maintain low immunogenicity in vitro,but have some immunogenicity after transplantation into the host due to microenvironment changes.
5.Sodium caffeate induces endothelial cell apoptosis and inhibits VEGF expression in cancer cells.
Feng XU ; Zhi-Gang OU-YANG ; Sheng-Hua ZHANG ; Dan-Qing SONG ; Rong-Guang SHAO ; Yong-Su ZHEN
Acta Pharmaceutica Sinica 2006;41(6):572-576
AIMTo investigate the induction of endothelial cell apoptosis and the suppression of VEGF expression in cancer cells by sodium caffeate (SCA).
METHODSApoptosis of transformed human umbilical vein endothelial cells (ECV304 cell line) was detected by flow cytometry, DNA electrophoresis assay and morphological assessment. Western blotting analysis was applied for determination of VEGF expression in cancer cells. Substrate degradation by type IV collagenase was measured by zymography. ELISA was used to detect the binding of type IV collagenase with relevant monoclonal antibody.
RESULTSSCA induced ECV304 cell apoptosis in a time- and dose-dependent manner. After treatment with 100 and 250 microg X mL(-1) of SCA for 48 h, DNA laddering appeared. SCA treated cells showed strong blue fluorescence and distinct changes of nuclear morphology, such as pyknosis and the occurrence of apoptotic bodies. VEGF expression in hepatoma HepG-2 cells and prostate carcinoma DU145 cells was reduced after SCA treatment. The degradation activity of type IV collagenase including MMP-2 and MMP-9 secreted by giant cell pulmonary carcinoma PG cells was inhibited by SCA in a dose-dependent manner. SCA also reduced the binding of mAb 3D6, a relevant monoclonal antibody, to type IV collagenase.
CONCLUSIONSCA can induce endothelial cell apoptosis and inhibit VEGF expression as well as type IV collagenase activity in cancer cells. SCA might be active in modulating tumor angiogenesis and the microenvironment.
Apoptosis ; drug effects ; Caffeic Acids ; pharmacology ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Cells, Cultured ; Endothelial Cells ; cytology ; Humans ; Liver Neoplasms ; metabolism ; pathology ; Lung Neoplasms ; metabolism ; pathology ; Male ; Matrix Metalloproteinase 2 ; metabolism ; Matrix Metalloproteinase 9 ; metabolism ; Prostatic Neoplasms ; metabolism ; pathology ; Umbilical Veins ; cytology ; Vascular Endothelial Growth Factor A ; metabolism
6.Clinical analysis of 942 cases of Kawasaki disease.
Wei ZHANG ; Qiu LI ; Xiao-dong ZHAO ; Xue-mei TANG ; Xiao-gang WANG ; Mo WANG ; Dao-qi WU ; Qian OU ; Xi-qiang YANG
Chinese Journal of Pediatrics 2006;44(5):324-328
OBJECTIVEThe study was designed to investigate the clinical characteristics and the effects of therapeutic proposal on Kawasaki disease (KD).
METHODSClinical features, diagnosis and treatment for totally 942 patients with KD hospitalized during Jan, 2000 to Dec, 2004 were reviewed. Clinical features of typical and incomplete KD were compared. Also, influential factors for KD resistant to intravenous immune globulin (IVIG) therapy were analyzed. Five hundred and ten cases were followed up for analyzing the prognosis of coronary artery lesion (CAL).
RESULTS(1) 774 cases were diagnosed as typical KD, and 168 cases as incomplete KD. The incidence of infants with incomplete KD was higher than that of infants with typical KD (18.5% vs. 10.1%, P < 0.01). As compared with typical KD, the cases of incomplete KD had a long duration of fever before final diagnosis [(7.7 +/- 2.9) d vs. (7.0 +/- 2.4) d, P < 0.01], high hemoglobin level [Hb, (106.6 +/- 13.4) g/L vs. (103.5 +/- 12.3) g/L, P < 0.01], high hematocrit [Hct, (32.0 +/- 4.3)% vs. (31.0 +/- 4.0)%, P < 0.01], and high prevalence of CAL (23.8% vs. 16.8%, P < 0.05), respectively. The occurrence rate and emerging time of clinical manifestations in incomplete KD and in typical KD were presented, respectively: non-exudative conjunctivitis [occurrence rate, 64.9% vs. 93.5%; emerging time, (4.4 +/- 1.4) d vs. (4.0 +/- 1.6) d, respectively (P < 0.05 or P < 0.01)], erythema and cracking of lips [occurrence rate, 50.6% vs. 94.8%; emerging time, (4.9 +/- 1.4) d vs. (4.5 +/- 1.6) d, respectively (P < 0.05 or P < 0.01)], rash [occurrence rate, 35.1% vs. 87.7%; emerging time, (3.9 +/- 1.9) d vs. (3.4 +/- 1.7) d, respectively (P < 0.05 or P < 0.01)], erythema and edema of extremity [occurrence rate, 26.8% vs. 71.4%; emerging time, (6.7 +/- 1.5) d vs. (5.3 +/- 1.7) d, respectively (P < 0.01)], cervical lymphadenopathy [occurrence rate, 34.5% vs. 68.0%; emerging time, (4.3 +/- 2.5) d vs. (3.6 +/- 2.2) d, respectively (P < 0.05 or P < 0.01)], strawberry tongue [occurrence rate, 31.0% vs. 59.8%; emerging time, (5.6 +/- 2.2) d vs. (4.9 +/- 1.8) d, respectively (P < 0.05 or P < 0.01)], membranous desquamation of fingertips [occurrence rate, 34.5% vs. 56.3%; emerging time, (11.7 +/- 3.3) d vs. (10.3 +/- 2.7) d, respectively (P < 0.01)], and desquamation peri-anus [occurrence rate, 42.9% vs. 50.0%; emerging time, (6.7 +/- 2.7) d vs. (6.9 +/- 2.5) d, respectively (P > 0.05)]. Except for peri-anus desquamation, other clinical manifestations in incomplete KD were sporadical as compared to typical KD. (2) Six per cent (51/857) of cases were resistant to the IVIG therapy. As compared to the group responding to IVIG therapy, high prevalence of CAL (31.4% vs. 17.1%, P < 0.05), long fever duration [(10.6 +/- 3.9) d vs. (7.5 +/- 2.3) d, P < 0.01], low Hb level [(99.9 +/- 14.1) g/L vs. (104.3 +/- 12.4) g/L, P < 0.01], low Hct [(30.1 +/- 4.5)% vs. (31.2 +/- 4.0)%, P < 0.05], low platelet [PLT, (256.9 +/- 142.4) x 10(9)/L vs. (309.7 +/- 131.5) x 10(9)/L, P < 0.05], and low albumin level [ALB, (27.8 +/- 8.4) g/L vs. (33.5 +/- 6.7) g/L, P < 0.01] were found in the group resistant to IVIG therapy, respectively. (3) In patients who received IVIG 1 g/kg and 2 g/kg, the recovery rates from CAL were 83.1% and 89.7% (P > 0.05), respectively. The prevalence of CAL in those without CAL in acute and subacute stages was 0.9% and 3.5% (P > 0.05), respectively, during 2 year-follow-up period.
CONCLUSION(1) Infants appeared to have more chances to suffer from incomplete KD. Incomplete KD had high prevalence of CAL. The peri-anus desquamation might be an important clue for early diagnosis of incomplete KD. (2) In acute stage, the influential factors for KD resistance to IVIG therapy included prolonged fever, non-elevated PLT, and persistent decrease in Hb, Hct and ALB levels. (3) Children receiving IVIG 1 g/kg and 2 g/kg had the similar effects on recovery and prevention from CAL within the first two years after KD onset.
Adolescent ; Blood Platelets ; drug effects ; Child ; Child, Preschool ; China ; Coronary Aneurysm ; drug therapy ; epidemiology ; etiology ; prevention & control ; Coronary Artery Disease ; complications ; diagnosis ; drug therapy ; physiopathology ; Dose-Response Relationship, Drug ; Female ; Fever ; drug therapy ; physiopathology ; Follow-Up Studies ; Humans ; Immunoglobulins, Intravenous ; administration & dosage ; therapeutic use ; Immunologic Factors ; Infant ; Infant, Newborn ; Male ; Prognosis ; Retrospective Studies ; Risk Factors ; Treatment Outcome
7.Risk factors for metastasis and recurrence of hepatocellular carcinoma at different stages.
Di-Peng OU ; Lian-Yue YANG ; Geng-Wen HUANG ; Yi-Ming TAO ; Xiang DING ; Zhi-Gang CHANG
Journal of Central South University(Medical Sciences) 2005;30(5):540-543
OBJECTIVE:
To analyze the risk factors for metastasis and recurrence of hepatocellular carcinoma (HCC) postoperatively.
METHODS:
Data of 270 cases of postoperative HCC were analyzed by SPSS software retrospectively.
RESULTS:
Out of the 270 cases, 162 got follow-up study and 136 showed metastasis and recurrence. Lots of risk factors induced the recurrence of HCC, such as AFP, tumor form, venous blood invasion, HBV infection, resection dimension and perioperative transfusion. There were different risk factors at different stages.
CONCLUSION
The early recurrence of HCC may be mediated by macro- or micro-vessel blood invasion and metastasis, the late recurrence by multicentric carcinogenesis or introhepatic cacinoma de novo.
Adult
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Carcinoma, Hepatocellular
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surgery
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China
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epidemiology
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Female
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Follow-Up Studies
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Hepatectomy
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Humans
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Liver Neoplasms
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surgery
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Lymphatic Metastasis
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Male
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Middle Aged
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Neoplasm Recurrence, Local
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epidemiology
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Postoperative Period
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Retrospective Studies
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Risk Factors
8. Daidzein affects proliferation and apoptosis in non-small cell lung cancer cells:role of p53 signaling pathway
Ting LUO ; Shi-Qun YU ; Jin OU-YANG ; Ting LUO ; Shi-Qun YU ; Jin OU-YANG ; Deng-Gang FU ; Xiao-Wei XIONG ; Shao-Xin HUANG ; Xin WANG ; Xiao-Bo WANG ; You PENG ; Cheng-Quan CHENG
Chinese Pharmacological Bulletin 2023;39(3):431-438
Aim To investigate the effects of daidzeinDD on the proliferation and apoptosis of non-small cell lung cancer cells,with a focus on the possible role of the p53 signaling pathway in this regard. Methods CCK-8 method and flow cytometry were used to detect the effects of soy isoflavone crude extract and DD on the viability and apoptosis of HELF and H1299 cells. Gene microarray was used to detect the changes in gene expression after treatment of H1299 cells with DD. GSEA and differential analysis were used to screen the major pathways and key genes. RT-qPCR and Western blot were performed to verify the differences in mRNA and protein expression of key genesp53 and CASP9 in the major pathways. After p53 inhibitor Pifithrin-α inhibited the expression of p53,the effect of DD on p53 mRNA and protein expression levels was examined,and the proliferative effect on H1299 cells was observed. Results Soy isoflavone crude extract and DD promoted proliferation and inhibited apoptosis of normal lung cells and inhibited proliferation and promoted apoptosis of lung cancer cells. p53 signaling pathway was significantly enriched in the DD-treated groupNES=1.78,P=0.000,and the expressions of p53 and CASP9 genes were found to be significantly up-regulated in the treated group. Compared with the control group,mRNA expression of CASP9 and p53 significantly increased in both HELF and H1299 cells treated with DDP<0.05,and p53 protein expression also increased in HELF cellsP<0.05. After inhibition of p53 expression,DD significantly increased the mRNA expression of p53 in H1299 and HELF cellsP<0.05 and also markedly increased the expression of p53 protein in H1299 cellsP<0.05,and it was observed that DD inhibited the proliferation of lung cancer cells. Conclusions DD inhibits the proliferation and promotes the apoptosis of lung cancer H1299 cells,and the mechanism mainly involves the p53 signaling pathway.
9.An outbreak of human Streptococcus suis serotype 2 infections presenting with toxic shock syndrome in Sichuan, China.
Wei-zhong YANG ; Hong-jie YU ; Huai-qi JING ; Jian-guo XU ; Zhi-hai CHEN ; Xiao-ping ZHU ; Hua WANG ; Xue-cCheng LIU ; Shi-wen WANG ; Lun-guang LIU ; Rong-qiang ZU ; Long-ze LUO ; Ni-juan XIANG ; Hong-lu LIU ; Wen-jun ZHONG ; Li LIU ; Ling MENG ; Heng YUAN ; Yong-jun GAO ; Hua-mao DU ; Yang-bin OU ; Chang-yun YE ; Dong JIN ; Qiang LV ; Zhi-gang CUI ; Yan HUANG ; Shou-yin ZHANG ; Xiang-dong AN ; Ting HUANG ; Xing-yu ZHOU ; Liao FENG ; Qi-di PANG ; Yue-long SHU ; Yu WANG
Chinese Journal of Epidemiology 2006;27(3):185-191
OBJECTIVEIn mid-July 2005, five patients presented with septic shock to a hospital in Ziyang city in Sichuan, China, to identify the etiology of the unknown reason disease, an epidemiological, clinical, and laboratory study were conducted.
METHODSAn enhanced surveillance program were established in Sichuan, the following activities were introduced: active case finding in Sichuan of (a) laboratory diagnosed Streptococcus suis infection and (b) clinically diagnosed probable cases with exposure history; supplemented by (c) monitoring reports on meningococcal meningitis. Streptococcus suis serotype 2 infection was confirmed by culture and biochemical reactions, followed by sequencing for specific genes for serotype and virulence factors.
RESULTSFrom June 10 to August 21, 2005, 68 laboratory confirmed cases of human Streptococcus suis infections were reported. All were villagers who gave a history of direct exposure to deceased or sick pigs in their backyards where slaughtering was performed. Twenty six (38%) presented with toxic shock syndrome of which 15 (58%) died. Other presentations were septicaemia or meningitis. All isolates were tested positive for genes for tuf, species-specific 16S rRNA, cps2J, mrp, ef and sly. There were 136 clinically diagnosed probable cases with similar exposure history but incomplete laboratory investigations.
CONCLUSIONAn outbreak of human Streptococcus suis serotype 2 infections occurred in villagers after direct exposure to deceased or sick pigs in Sichuan. Prohibition of slaughtering in backyards brought the outbreak to a halt. A virulent strain of the bacteria is speculated to be in circulation, and is responsible for the unusual presentation of toxic shock syndrome with high case fatality.
Animals ; Bacteremia ; epidemiology ; microbiology ; China ; epidemiology ; Disease Outbreaks ; Humans ; Meningitis, Bacterial ; epidemiology ; microbiology ; Shock, Septic ; epidemiology ; microbiology ; Streptococcal Infections ; epidemiology ; microbiology ; veterinary ; Streptococcus suis ; isolation & purification ; Swine ; Swine Diseases ; microbiology
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*