1.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*
;
Child
;
China/epidemiology*
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Cryptorchidism/genetics*
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Disorders of Sex Development/genetics*
;
Female
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Genital Diseases, Male
;
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*
2.Long-term follow-up of efficacy of insulin pump in the treatment of children with type 1 diabetes mellitus.
Hong-Xiu YANG ; Xue-Fei LENG ; Si-Cui HU ; Cheng LI ; Ling-Yan QIAO ; Zhi-Hong CHEN ; Tang LI
Chinese Journal of Contemporary Pediatrics 2021;23(2):116-120
OBJECTIVE:
To study the clinical effect of continuous subcutaneous insulin infusion (CSⅡ) versus multiple daily injection (MDI) on blood glucose control in children with type 1 diabetes mellitus (T1DM).
METHODS:
A retrospective analysis was performed on the medical data of 91 children with T1DM who were treated with CSⅡ for more than 1 year and 75 children with T1DM who were treated with MDI. The two groups were compared in terms of glycosylated hemoglobin (HbA1C) and the recurrence of diabetic ketoacidosis (DKA) to evaluate the difference in the efficacy during the 3-year follow-up. A survey was conducted for the children in the CSⅡ group and their family members to investigate the degree of satisfaction with insulin pump.
RESULTS:
There was no significant difference in age, sex, and course of diabetes between the CSⅡ and MDI groups at disease onset and in the first year, the second year, and the third year of follow-up (
CONCLUSIONS
Children with T1DM treated with CSⅡ have a better control of blood glucose than those treated with MDI, and children and their family members are satisfied with CSⅡ treatment. Therefore, it holds promise for clinical application.
Child
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Diabetes Mellitus, Type 1/drug therapy*
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Diabetic Ketoacidosis
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Follow-Up Studies
;
Humans
;
Insulins
;
Retrospective Studies
3.Simultaneous Determination of Pyrrolidine Alkaloids and Their Nitrogen Oxides in Farfarae Flos by UPLC-MS/MS
Yue QIAO ; Li-hua CHEN ; Hong-xiu HU ; Ran-ran GAO ; Zhao-hui GAO ; Jian-yong SI ; Yong-hong LIAO ; Di-an SUN
Chinese Journal of Experimental Traditional Medical Formulae 2020;26(1):155-162
Objective::To establish an ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) for the simultaneous determination of 15 pyrrolidine alkaloids (PAs) and their nitrogen oxides, and determine the content of the 15 PAs in the 15 batches of Farfarae Flos samples obtained from different sources, in order to understand the distribution status of these 15 PAs in Farfarae Flos from different sources, and provide relevant references for the safe and rational use of this medicinal materials. Method::The method was achieved by Agilent Eclipse Plus C18 column (3.0 mm×150 mm, 1.8 μm) using a mobile phase made up of 0.05%formic acid and 2.5 mmol·L-1 ammonium formate in water (A)-0.05%formic acid and 2.5 mmol·L-1 ammonium formate in methanol(B). The flow rate and the injection volume were 0.4 mL·min-1 and 2 μL, respectively. The column temperature was 40 ℃. The instrument was Agilent 1290-6470 QQQ ultra high performance liquid chromatography-triple quaternary bar mass spectrometer. The components were detected in multiple reaction monitoring mode by mass spectrometry with ionizationmode of ESI+. The content of the components measured in the samples was calculated by using the external standard method, and the difference between samples was analyzed based on RSD of different components. Result::The established method had a high sensitivity and good separation degree. The results of methodological investigation met the requirements. The results showed that all of the 15 batches of Farfarae Flos contained PAs and their nitrogen oxides. These PAs had almost the same types of structure. There were significant differences in the content and distribution of PAs in Farfarae Flos obtained from different sources. Conclusion::In general, Farfarae Flos contains pyrrolidine alkaloids and their nitrogen oxides. Senkirkine with a significant hepatotoxicity is the main compound. The content determination of PAs will provide scientific fundaments for the safe and effective use of Farfarae Flos.
4.An investigation of severe neonatal hyperbilirubinemia in 13 hospitals of Jiangsu Province, China.
Qian-Qian LI ; Xiao-Yue DONG ; Yu QIAO ; Yu-Jie YIN ; Yan GAO ; Jin-Jun ZHOU ; Li YANG ; Rong-Ping ZHU ; Fu-Dong WANG ; Jun WAN ; Yan XU ; Zhao-Jun PAN ; Wei-Yuan WANG ; Jun-Mei YAN ; Shu-Ping HAN ; Hong-Yan LU ; Yu-Hua HU ; Shuang-Shuang LI ; Jin-Xiu WANG ; Ming-Fu WU ; Jun WANG ; Xiao-Yi DENG ; Zhang-Bin YU
Chinese Journal of Contemporary Pediatrics 2020;22(7):690-695
OBJECTIVE:
To investigate the incidence of severe neonatal hyperbilirubinemia and the management on the treatment and follow-up of this disease in Jiangsu Province, China.
METHODS:
The neonates with severe hyperbilirubinemia who were admitted to 13 hospitals in Jiangsu Province from January to December, 2018, were enrolled as subjects. A retrospective analysis was performed on their mediacal data and follow-up data.
RESULTS:
In 2018, 740 neonates with severe hyperbilirubinemia were reported from the 13 hospitals in Jiangsu Province, accounting for 2.70% (740/27 386) of the total number of neonates admitted to the department of neonatology. Among these neonates, 620 (83.8%) had severe hyperbilirubinemia, 106 (14.3%) had extremely severe hyperbilirubinemia, and 14 (1.9%) had hazardous hyperbilirubinemia. Four neonates (0.5%) were diagnosed with acute bilirubin encephalopathy. A total of 484 neonates (65.4%) were readmitted due to severe hyperbilirubinemia after discharge from the delivery institution, with a median age of 7 days, among whom 214 (44.2%) were followed up for jaundice at the outpatient service before readmission, with a median age of 6 days at the first time of outpatient examination. During hospitalization, 211 neonates (28.5%) underwent cranial MRI examinations, among whom 85 (40.3%) had high T1WI signal in the bilateral basal ganglia and the globus pallidus; 238 neonates (32.2%) underwent brainstem auditory evoked potential examinations, among whom 14 (5.9%) passed only at one side and 7 (2.9%) failed at both sides. The 17 neonates with acute bilirubin encephalopathy or hazardous hyperbilirubinemia were followed up. Except one neonate was lost to follow-up, and there were no abnormal neurological symptoms in the other neonates.
CONCLUSIONS
Neonates with severe hyperbilirubinemia account for a relatively high proportion of the total number of neonates in the department of neonatology. Jaundice monitoring and management after discharge from delivery institutions need to be strengthened. For neonates with severe hyperbilirubinemia, relevant examinations should be carried out more comprehensively during hospitalization and these neonates should be followed up comprehensively and systematically after discharge.
Bilirubin
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China
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Evoked Potentials, Auditory, Brain Stem
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Humans
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Hyperbilirubinemia, Neonatal
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Infant, Newborn
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Retrospective Studies
5.Comparison of clinical efficacy and prognosis of intensity-modulated radiotherapy and three dimensional conformal radiotherapy in patients with stage Ⅱ/m esophageal cancer: a multi-center retrospective analysis in Beijing, Tianjin and Hebei province (3JECROG R-06)
Yonggang XU ; Xin WANG ; Chen LI ; Lan WANG ; Chun HAN ; Junqiang CHEN ; Wencheng ZHANG ; Xiaomin WANG ; Xiaolin GE ; Wenbin SHEN ; Miaomiao HU ; Qianqian YUAN ; Chongli HAO ; Ling LI ; Zhiguo ZHOU ; Shuai QIE ; Na LU ; Qingsong PANG ; Ping WANG ; Yidian ZHAO ; Xinchen SUN ; Kaixian ZHANG ; Xueying QIAO ; Miaoling LIU ; Yadi WANG ; Shuchai ZHU ; Dazhi CHEN ; Qinhong WU ; Hong GAO ; Xia XIU ; Gaofeng LI ; Zefen XIAO
Chinese Journal of Radiation Oncology 2019;28(6):405-411
Objective To compare the therapeutic effects between three-dimensional conformal radiotherapy (3DCRT) and intensity-modulated radiotherapy (IMRT) in patients with stage Ⅱ/Ⅲ esophageal cancer and investigate the prognostic factors.Methods Medical record of 2 132 patients with stage Ⅱ/Ⅲ esophageal cancer who underwent definitive radiotherapy with/without chemotherapy in 10 hospitals from January 2002 to December 2016 from were retrospectively analyzed.Among these patients,37.9% of them were aged ≥ 70 years,33.9% with neck and upper esophageal tumors and 66.1% with middle and lower esophageal and borderline tumors.The median gross tumor volume (GTV) and lymph node gross tumor volume (GTVnd) was 41.6 cm3.Among them,32% were stage Ⅱ] and 68% were stage Ⅲ.A total of 723 patients received 3DCRT and 1 409 cases received IMRT.Patients received an equivalent dose in 2 Gy (EQD2) ≥ 60 Gy accounted for 86.1%,and 41.1% of them received concurrent chemoradiotherapy.Results The median follow-up time was 60.8 months.The 1-,3-and 5-year overall survival (OS) of all patients was 73.9%,41.7% and 32.6%,and the 1-,3-and 5-year progression-free survival (PFS) was 62.2%,37.3% and 32%,respectively.Multivariate analysis demonstrated that age,primary tumor location,clinical stage,tumor target volume,EQD2 and concurrent chemoradiotherapy were the independent prognostic factors for OS.Age,primary tumor location,clinical stage,tumor target volume and EQD2 were the independent prognostic factors for PFS.The OS and PFS did not significantly differ among the low-risk,low-/moderate-risk,moderate-/high-risk and high-risk groups according to age≥70 years,tumor diameter>5 cm,tumor volume ≥41.6 cm3 and stage Ⅲ (P<0.001).After the propensity score matching (PSM) method,neither 3DCRT nor IMRT yielded significant advantages in OS or PFS (P=0.971;P=0.658).However,IMRT tended to yield survival benefits in low-risk patients (P=0.125).Conclusions Both 3DCRT and IMRT yield relatively high OS rate in patients with stage Ⅱ/Ⅲ esophageal cancer.The prognosis model established in this investigation can properly predict the survival of patients.Low-risk patients tend to obtain survival benefits from IMRT.
6.Study on the multilocus sequence typing of carbapenem resistant Klebsiella pneumonia
Chang-Xiu NING ; Long-Hua HU ; Hong WANG ; Qiao-Shi ZHONG ; Ya-Ping HANG ; Xiao-Yan HU ; Xiao-Zhong WANG ; Jian-Qiu XIONG
The Chinese Journal of Clinical Pharmacology 2015;(1):17-20
Objective To investigate the molecular epidemiology of car-bapenem resistant Klebsiella pneumonia( CRKP) from four teaching hos-pitals in Nanchang by multilocus sequence typing ( MLST ) .Methods Twenty-nine imipenem and/or meropenem resistant Klebsiella pneumoni-a isolates were totally collected from four teaching hospitals in Nanchang from Jan 2011 to June 2012.The polymerase chain reaction( PCR) am-plifications of drug resistant genes were performed.The molecular genetic of CRKPs were analyzed by MLST.The population structure of CRKPs was evaluated by eBURST with the results of MLST.Results Twenty-nine CRKPs were successfully divided into 16 sequence types ( STs ) by MLST.The main types were ST11 and ST15 (5/29 each); followed by ST395 ( 3/29 ); ST334, ST273, ST147 ( 2/29 each ); ST1128, ST42, ST1031,ST764,ST629 and ST37(1/29 each).It is worth nothing that 4 new STs have been confirmed by the PubMlst database and named ST1369,ST1411,ST1412,ST1413.Among 2 ST groups, each ST group respectively included 2 STs ( ST395 and ST1369, ST147 and ST273 ) , the other 12 STs were single type, which ST11 ,ST15 and ST395 belongs to the CC258 clonal complex. Conclusion Gene polymorphism was existed on CRKPs of this region and the main types of 29 experimental strains were ST11 and ST15, and ST15 has been briefly local disseminated.
7.Research of rapid mass spectrum identification of Acinetobacter baumannii
Ya-Ping HANG ; Long-Hua HU ; Hong WANG ; Chang-Xiu NING ; Qiao-Shi ZHONG ; Xiao-Yan HU ; Bai-Ling ZHANG ; Nan ZHANG ; Xiao-Zhong WANG
The Chinese Journal of Clinical Pharmacology 2015;(2):110-112
Objective To establish the rapid identification of Acineto-bacter baumannii by detecting specific volatile metabolites of Acinetobacter baumannii through surface desorption atmospheric pressure chemical ioni-zation mass spectrometry ( SDAPCI-MS).Methods Ten clinical isola-ted Acinetobacter baumannii were resuscitated and vaccinated to blood agar plates at 37 ℃incubation and culturing.SDAPCI-MS was adopted to detect volatile metabolites of Acinetobacter baumannii by different cul-turing time.Results Compared with blank culture medium , the pecu-liar volatile metabolites were detected ,the characteristic peaks are mass -to-charge ratio 60 and 118.Basically the same volatile metabolites of Acinetobacter baumannii were generated by different culturing time.Con-clusion The rapid identification of Acinetobacter baumannii through peculiar volatile metabolites is hopefully applied by SDAPCI -MS.
8.Optimal Waist Circumference Cut-off values for Identifying Metabolic Risk Factors in Middle-aged and Elderly Subjects in Shandong Province of China
Guo Xin HOU ; Chuan WANG ; Qiang Ze MA ; Fang Wei YANG ; Xiang Ji WANG ; Qiao Cheng LI ; Lian Yu WANG ; Min Shu LIU ; Ping Xiu HU ; Ping Xiu ZHANG ; Mei JIANG ; Qing Wei WANG ; Guang NING ; Zhen Hui ZHENG ; Xia Ai MA ; Yu SUN ; Jun SONG ; Peng LIN ; Kai LIANG ; Qiang Fu LIU ; Juan Wen LI ; Juan XIAO ; Lei GONG ; Jian Mei WANG ; Dong Ji LIU ; Fei YAN ; Peng Jun YANG ; Shu Ling WANG ; Meng TIAN ; Xing Ru ZHAO ; Ling JIANG ; Li CHEN
Biomedical and Environmental Sciences 2014;(5):353-359
Objective To study the optimal waist circumference (WC) cut-off values for identifying metabolic risk factors in middle-aged and elderly subjects in Shandong Province of China.
Methods A total of 2 873 men and 5 559 women were included in this cross-sectional study. Metabolic syndrome (MetS) was diagnosed according to the definition of Chinese Diabetes Society in 2004. The relation between WC and MetS was analyzed by multivariate logistic regression analysis. The optimal WC cut-off values were identified using the area under the ROC curve and the different diagnostic criteria for central obesity were compared.
Results The WC was the risk factor for MetS independent of BMI, blood glucose, blood lipid, and blood pressure. The optimal WC cut-off value was 83.8 cm and 91.1 cm for identifying MetS in women and men, respectively. Compared with 80 cm and 85 cm for women and men, 85 cm and 90 cm had a higher Youden index for identifying all metabolic risk factors and MetS in women and men.
Conclusion The appropriate WC cut-off value is 85 cm and 90 cm for identifying central obesity and MetS in women and men in Shandong Province of China.
9.Detection of 16 S rRNA methylase genes in clinical isolates carbapenem-resistant Klebsiella-pneumoniae
Ya-Ping HANG ; Chang-Xiu NING ; Hong WANG ; Qiao-Shi ZHONG ; Xiao-Yan HU ; Bai-Ling ZHANG ; Nan ZHANG ; Long-Hua HU
The Chinese Journal of Clinical Pharmacology 2014;(4):327-331
Objective To investigate existence and homology of 16 S rRNA methylase genes in carbapenem -resistant Klebsiella-pneumoniae ( CRKP ) clinical isolates.Methods Twenty -nine CRKPs were col-lected from four hospitals in Nanchang.PCR amplifications of drug resist-ant genes were performed.The horizontal transmission of the resistance plasmids was evaluated by conjugation and homology of the isolates was analyzed by pulsed field gel electrophoresis ( PFGE).Results Resistant rates of twenty -nine clinical isolates to amikacin and gentamicin were 37.9%( 11/29 ) and 69.0%( 20/29 ) , respectively.The amikacin re-sistanted isolates were simultaneously resistant to gentamicin.The exist-ence of 16 S rRNA methylase positive genes were detected in 10 isolates , including 9 strains carrying armA genes,1 strain carrying rmtB gene.All the 10 strains with 16 S rRNA methylase positive genes harbored β-lac-tamase genes and 7 strains also harbored carbapenemase genes , with blaKPC-2 and blaNDM-1 being the main genotypes.Ten experimental strains were successfully typed by PFGE and classified into 9 different genotypes and resistance plasmids were successfully transferred into the recipient E.coli J53 through conjugation experiments of 3 armA -positive isolates. Conclusion The 16S rRNA methylase gene is highly relevant to carbapenem -resistant klebsiella -pneumoniae in terms of resistance to aminoglycosides , and armA is the main genotype.Plasmids carried 16 S rRNA methylase gene can be horizontally disseminated.
10.Progress in the study of targeted drug delivery systems for cancer stem cells.
Ming-Xi QIAO ; Xiao-Jun ZHANG ; B A SHUANG ; Hai-Yang HU ; Xiu-Li ZHAO ; Da-Wei CHEN
Acta Pharmaceutica Sinica 2013;48(4):477-483
The discovery, sorting and identification methods as well as targeted drug delivery systems for cancer stem cells (CSCs) have been reviewed by consulting the recent research papers. CSCs have been believed to be responsible for the occurrence and development of chemo-resistance, leading to the failure of chemotherapy. Much progress has been made in the approaches for CSCs targeting drug delivery systems. The understanding and targeted drug delivery systems for CSCs are promising to provide an alternative for cancer therapy.
Animals
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Antineoplastic Agents
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pharmacology
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therapeutic use
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Apoptosis
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drug effects
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Drug Delivery Systems
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methods
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Drug Resistance, Neoplasm
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Flow Cytometry
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Humans
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Neoplasms
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drug therapy
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pathology
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Neoplastic Stem Cells
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drug effects
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pathology
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Signal Transduction
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drug effects
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Wnt Signaling Pathway
;
drug effects

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