24 results on '"Ding, Hongxiang"'
Search Results
2. Dependence analysis of social contact behaviors under the impacts of COVID-19 based on a copula approach
- Author
-
Ding, Hongxiang, Zhang, Junyi, Feng, Tao, and Liu, Rui
- Published
- 2023
- Full Text
- View/download PDF
3. Pharmacokinetics-derived absorbed components responsible for Guizhi-Fuling capsule target PI3K/Akt-Erk to exert an anti-dysmenorrhea effect
- Author
-
Zhao, Qiulong, Cheng, Jiaxin, Bian, Xiaokun, Wang, Chunxue, Xu, Yi, Ding, Hongxiang, Ren, Hui, Zhang, Yiying, Xu, Min, Shan, Chenxiao, Yan, Hui, Duan, Jinao, Qian, Dawei, and Huang, Xi
- Published
- 2022
- Full Text
- View/download PDF
4. Effects of transport-related COVID-19 policy measures: A case study of six developed countries
- Author
-
Zhang, Junyi, Zhang, Runsen, Ding, Hongxiang, Li, Shuangjin, Liu, Rui, Ma, Shuang, Zhai, Baoxin, Kashima, Saori, and Hayashi, Yoshitsugu
- Published
- 2021
- Full Text
- View/download PDF
5. Dynamic associations between temporal behavior changes caused by the COVID-19 pandemic and subjective assessments of policymaking: A case study in Japan
- Author
-
Ding, Hongxiang and Zhang, Junyi
- Published
- 2021
- Full Text
- View/download PDF
6. Influence of N-acetylcysteine on steroidogenesis and gene expression in porcine placental trophoblast cells
- Author
-
Ding, Hongxiang, Yang, Yuze, Wei, Shangli, Spicer, Leon J., Kenéz, Ákos, Xu, Wei, Liu, Yan, and Feng, Tao
- Published
- 2021
- Full Text
- View/download PDF
7. “What should be computed” for supporting post-pandemic recovery policymaking? A life-oriented perspective
- Author
-
Zhang, Junyi, Feng, Tao, Kang, Jing, Li, Shuangjin, Liu, Rui, Ma, Shuang, Zhai, Baoxin, Zhang, Runsen, Ding, Hongxiang, and Zhu, Taoxing
- Published
- 2021
- Full Text
- View/download PDF
8. Prevalence of overactive bladder in Chinese women: A systematic review and meta-analysis.
- Author
-
Huang, Shaoming, Guo, Chuan, Tai, Shengcheng, Ding, Hongxiang, Mao, Dikai, Huang, Jiaguo, and Qian, Biao
- Subjects
CHINESE people ,OVERACTIVE bladder ,BODY mass index ,COMPUTER software quality control ,PUBLICATION bias ,PUBLIC health ,SMOKING statistics ,DATA extraction - Abstract
Background: Overactive bladder (OAB) is a significant public health issue that adversely affects the quality of life of patients and imposes a significant socioeconomic burden, with varying prevalence rates across study populations in Chinese women. A systematic review and meta-analysis were conducted to estimate the prevalence of OAB in Chinese women. Methods: Relevant published articles on the prevalence of OAB in Chinese women were searched through July 21, 2022, using PubMed, EMbase, The Cochrane Library, China Biology Medicine (CBM), China National Knowledge Infrastructure (CNKI), WanFang Data, and VIP databases. After the independent screening of articles, data extraction, and quality assessment of included studies by two investigators, a meta-analysis was performed using Stata 16.0 software, and the prevalence was determined using a random-effects model. To identify potential sources of heterogeneity, subgroup analyses were conducted with subgroup categories including age, Body Mass Index (BMI), region, and survey year. Publication bias was assessed by visually examining the funnel plot and Egger's test. Results: Twenty studies were included in this meta-analysis. The results of the random-effects model indicated that the prevalence of OAB in Chinese women was 14% (95% Confidence Interval: 9%–18%). The prevalence increased significantly in the past decade (from 8% in pre-2006 to 18% in 2016–2021). A prevalence (18%) was observed among women aged 31–40 compared with other age groups. The BMI range of 24–27.9 (18%) was higher than the other groups. Additionally, the prevalence of this BMI range was comparatively higher in North China and Southwest China (21%) than in Central China and East China. In addition, publication bias was observed. Conclusions: OAB incidence has increased in Chinese women over the last two decades, affecting more than 20% of women aged 31–40 years and above. With the increasing prevalence of OAB, greater emphasis has been placed on implementing preventative and control measures. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
9. Spontaneous Prostatic Hemorrhage in a COVID-19 Patient: A Case Report
- Author
-
Huang,Jiaguo, Ding,Hongxiang, Feng,Chao, Mao,Dikai, and Tai,Shengcheng
- Subjects
Infection and Drug Resistance - Abstract
Jiaguo Huang,1,* Hongxiang Ding,1,* Chao Feng,2 Dikai Mao,1 Shengcheng Tai1 1Department of Urology, Affiliated Xiaoshan Hospital, Hangzhou Normal University, Hangzhou, Peopleâs Republic of China; 2School of Medicine, Hangzhou Normal University, Hangzhou, Peopleâs Republic of China*These authors contributed equally to this workCorrespondence: Shengcheng Tai, Department of Urology, Affiliated Xiaoshan Hospital, Hangzhou Normal University, No. 728 North Yucai Road, Xiaoshan District, Hangzhou, Peopleâs Republic of China, Tel +8613516811191, Email tsc13516811191@126.comAbstract: Hematuria occurring in patients with acute kidney injury caused by Corona Virus Disease 2019 (COVID-19) infection has been reported. However, cases of macroscopic hematuria in COVID-19 patients leading to a severe decrease in hemoglobin have not been reported heretofore. Herein, we describe the case of a 56-year-old male patient who suffered from spontaneous prostatic hemorrhage caused by thrombocytopenia and coagulation dysfunction associated with COVID-19 infection, which manifested as macroscopic hematuria, bladder blood clot tamponade and severe hemoglobin decline. Prostatic hemorrhage was diagnosed by endoscopy. There was no recurrence of macroscopic hematuria after undergoing transurethral prostate electrocoagulation for hemostasis, infusing plasma to supplement coagulation factors and taking finasteride. One month after the bleeding event, the patientâs blood routine reexamination revealed that the platelet count returned to the normal value and coagulation was normal.Keywords: COVID-19, hematuria, prostatic hemorrhage, thrombocytopenia, coagulation dysfunction, bleeding event
- Published
- 2023
10. A case of a severe factor XI deficiency in a Chinese woman with heavy menorrhagia
- Author
-
Wang, Yingyu, Wang, Qingyu, Zhang, Yonggen, Ma, Ping, and Ding, Hongxiang
- Published
- 2019
- Full Text
- View/download PDF
11. A Rare Case of Spontaneous Bladder Rupture in a Herpes Zoster Patient
- Author
-
Huang,Jiaguo, Tai,Shengcheng, Ding,Hongxiang, Xu,Li, Hua,Runmiao, Yu,Yufu, and Mao,Dikai
- Subjects
Infection and Drug Resistance - Abstract
Jiaguo Huang,1,* Shengcheng Tai,1,* Hongxiang Ding,1 Li Xu,2 Runmiao Hua,1 Yufu Yu,1 Dikai Mao1 1Department of Urology, Affiliated Xiaoshan Hospital, Hangzhou Normal University, Hangzhou, Peopleâs Republic of China; 2School of Medicine, Hangzhou Normal University, Hangzhou, Peopleâs Republic of China*These authors contributed equally to this workCorrespondence: Dikai Mao, Department of Urology, Affiliated Xiaoshan Hospital, Hangzhou Normal University, No. 728 North Yucai Road, Xiaoshan District, Hangzhou, Peopleâs Republic of China, Tel +8618967103936, Email Modikai@126.comAbstract: Herpes zoster infection in the sacral area accounts for a considerable number of all herpes zoster cases, and cases of acute urinary retention and defecation disorders caused by herpes zoster infection in the sacral area have been reported. However, no clinical case of spontaneous bladder rupture has been reported. In this report, we describe a 77-year-old male patient with severe complications of spontaneous bladder rupture caused by herpes zoster-associated urinary retention. The patient regained complete bladder function after undergoing surgery to repair the bladder and treatment with antiviral drugs.Keywords: herpes zoster, acute urinary retention, spontaneous bladder rupture, sacral area
- Published
- 2022
12. Chapter 16 - Social contact patterns and changes at leisure/tourism activity settings during COVID-19 period: An international comparison
- Author
-
Liu, Rui, Ding, Hongxiang, and Zhang, Junyi
- Published
- 2023
- Full Text
- View/download PDF
13. Progesterone Induces Apoptosis and Steroidogenesis in Porcine Placental Trophoblasts.
- Author
-
Liu, Yueshuai, Ding, Hongxiang, Yang, Yuze, Liu, Yan, Cao, Xin, and Feng, Tao
- Subjects
- *
TROPHOBLAST , *PLACENTA , *PROGESTERONE , *CORPUS luteum , *GENE expression , *SERUM-free culture media - Abstract
Simple Summary: This study investigated the effects of progesterone treatment in vitro on apoptosis and steroidogenesis in porcine placental trophoblasts and the underlying molecular mechanisms. Trophoblasts were treated with different concentrations of progesterone for 48 h. Cell counts, steroidogenesis, and relevant gene and protein expression levels were measured. Progesterone inhibited trophoblast proliferation in a dose-dependent manner. High doses of progesterone significantly altered the expression levels of apoptosis-related and steroidogenesis-related genes and proteins, while low doses had a less pronounced effect. Thus, increased progesterone induces the apoptosis of porcine placental trophoblasts and induces abnormal steroidogenesis in the placenta. We believe that our study makes a significant contribution to the literature because it elucidates the effects of progesterone on porcine placental trophoblast functions. Placentation and placental steroidogenesis are important for pregnancy and maternal–fetal health. As pregnancy progresses, the main site of progesterone (P4) synthesis changes from the corpus luteum to the placenta, in which placental trophoblasts are the main cell type for P4 synthesis. Therefore, this study investigated the effects of P4 on apoptosis and steroidogenesis in porcine placental trophoblasts and the underlying molecular mechanisms. Porcine placental trophoblasts were treated with different concentrations of P4 for 48 h in a serum-free medium in vitro. Cell number, steroidogenesis, and relevant gene and protein expression levels were detected. A high dose of P4 (10.0 μM) significantly increased P4 (p < 0.01), androstenedione (p < 0.05), testosterone (p < 0.05), and estradiol (p < 0.05) production in porcine placental trophoblasts compared with that in control cells, while a low dose of P4 (1 × 10−3 μΜ) had no marked impact on steroid production. The mRNA expression of apoptosis-related genes (CASP3, CASP8, and Bax) (p < 0.05) and steroidogenesis-related genes (CYP11A1, CYP19A1, and StAR) (p < 0.01) was upregulated, and the expression of HSD3B and HSD17B4 was inhibited (p < 0.05) in the porcine placental trophoblasts treated with high doses of P4. Low doses of P4 had a lighter effect on gene expression than high doses. The expression of apoptosis-related proteins CASP3 (p < 0.05), and Bax (p < 0.01) and steroidogenesis-related proteins CYP19A1 (p < 0.05) and StAR (p < 0.01) was raised, but the proliferation-related protein CCND2 (p < 0.01) was downregulated in the pTr cells treated with high dose of P4. In comparison, a low dose of P4 inhibited the expression of Bax, CYP11A1 (all p < 0.01), and CCND2 (p < 0.05), but the expression of CASP3 (p < 0.05) and StAR (p < 0.01) was upregulated. In summary, excessive P4 can induce the apoptosis of porcine placental trophoblasts and lead to abnormal steroidogenesis in the placenta and hormone imbalance. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
14. N-Carbamylglutamate Improves Reproductive Performance and Alters Fecal Microbiota and Serum Metabolites of Primiparous Sows during Gestation after Fixed-Time Artificial Insemination.
- Author
-
Feng, Tao, Xiao, Linli, Bai, Jiahua, Ding, Hongxiang, Pang, Liyan, Song, Yuqing, Qin, Yusheng, Xu, Xiaoling, Wang, Jing, and Liu, Yan
- Subjects
ARTIFICIAL insemination ,SOWS ,SWINE breeding ,PREGNANCY in animals ,GUT microbiome ,PREGNANCY ,BIRTH weight - Abstract
Simple Summary: Larger litter size (born alive) and higher uniformity of piglets' birth weight are the most desired characteristics in pig production. Application of N-carbamylglutamate (NCG) was shown to increase litter size and decrease the coefficient of variation of piglets' birth weight from sows after conventional artificial insemination. In this study, we report that, in sows after fixed-time artificial insemination (FTAI), NCG improved the number of piglets born alive and the coefficient of variation of birth weight through direct effects (increased serum NCG levels) and indirect effects (altered intestinal microbiome and serum metabolites). These findings indicate that NCG can improve reproductive performance by improving both the number of piglets born alive and the uniformity of piglets' birth weight in sows after FTAI. N-carbamylglutamate (NCG) supplementation during gestation improves reproductive performance in sows after conventional artificial insemination. However, whether NCG can improve reproductive performance and change fecal microbiota and serum metabolite levels during pregnancy in sows after fixed-time artificial insemination (FTAI) remains unclear. Two hundred multiparous sows were assigned a diet from mating until farrowing: control (corn–soybean meal) or NCG supplementation (0.05% NCG). At days 30, 70, and 110 of gestation and after farrowing, maternal microbial diversity and serum metabolites were studied. Supplementation of NCG increased the number of piglets born alive and the litter weight (all p < 0.05) and altered the fetal microbial community during gestation. Some genera were particularly abundant at different time points during gestation and after farrowing, but none were commonly abundant across all four time points. Metabolic analysis revealed that NCG supplementation significantly increased the serum concentrations of NCG, ferulic acid, cinnamoylglycine, 3-phenyllactic acid, and gamma-glutamylglutamic acid in the NCG group compared with levels in the control group. Our results reveal that NCG supplementation during gestation improves reproductive performance in sows after FTAI, exerting both direct (increased serum NCG levels) and indirect effects (altered intestinal microbiome and serum metabolites) on sow reproduction and, ultimately, improving placental and fetal development. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
15. Contributors
- Author
-
Advani, Mukti, Amrit, Kumar, Anable, Jillian, Bhuyan, Prasanta Kumar, Brown, Llinos, Brunel, Julien, Budd, Lucy, Cavallaro, Federico, Circella, Giovanni, Ciriaco, Thayanne Gabryelle Medeiros, Costa, Carolina Silva, da Silva Correa, Leandro, Dablanc, Laetitia, Ding, Hongxiang, Docherty, Iain, Elbert, Ralf, Fu, Daocheng, Gao, Kun, Goyal, Nitin, Hanaoka, Tatsuya, Hasegwa, Yu, Hassan, Nurul, Hayashi, Yoshitsugu, Huscroft, Joseph R., Ison, Stephen, Jaya, Vidushi, Kamnerdsap, Sudarat, Kang, Jing, Kanoshima, Hideyuki, Kashima, Saori, Khanganba Sanjram, Premjit, Kobayashi, Yasuko Hassall, Li, Shuangjin, Li, Xiaopeng, Lidasan, Hussein Sinsuat, Liu, Feng, Liu, Rui, Ma, Shuang, Marsden, Greg, Morita, Hiroyoshi, Nakamura, Shinichiro, Nakanishi, Hitomi, Ng, Wei-Shiuen, Oguchi, Takashi, Olczak, Magdalena, Padma, S., Patel, Chetan, Pedreira Junior, Jorge Ubirajara, Pedroso Moura, Melissa, Perl, Anthony, Pitombo, Cira Souza, Qu, Xiaobo, Regmi, Madan B., Rodrigues da Silva, Antônio Nélson, Roeper, Felix, Rothengatter, Werner, Sharma, Ritu, Shibayama, Takeru, Singhal, Ruchi, Soni, Arti Roshan, Soza-Parra, Jaime, Sperling, Daniel, Suda, Yoshihiro, Sun, Fengzhi, Takano, Tsuyoshi, Unnikrishnan, Chithira, Vanelslander, Thierry, Veeneman, Wijnand, Velmurugan, S., Verhoeven, Patrick, Vichiensan, Varameth, Wang, Suixin, Wang, Yacan, Wu, Wenchao, Yamamoto, Fuyo Jenny, Zhang, Junyi, Zhang, Linghan, Zhang, Runsen, Zhang, Zhao, Zhou, Huiyu, and Zhu, Taoxing
- Published
- 2023
- Full Text
- View/download PDF
16. Alterations of Serum Metabolites and Fecal Microbiota Involved in Ewe Follicular Cyst.
- Author
-
Feng, Tao, Ding, Hongxiang, Wang, Jing, Xu, Wei, Liu, Yan, and Kenéz, Ákos
- Subjects
EWES ,OVARIAN follicle ,ACID derivatives ,METABOLITES ,BLOOD lipids ,MICROBIAL metabolites ,POLYKETIDES ,SERUM - Abstract
While the interactions of the gut microbiome and blood metabolome have been widely studied in polycystic ovary disease in women, follicular cysts of ewes have been scarcely investigated using these methods. In this study, the fecal microbiome and serum metabolome were used to compare between ewes diagnosed with ovarian cystic follicles and ewes with normal follicles, to investigate alterations of the fecal bacterial community composition and metabolic parameters in relation to follicular cystogenesis. Ewes from the same feeding and management system were diagnosed with a follicular cyst (n = 6) or confirmed to have normal follicles (n = 6) by using a B-mode ultrasound scanner. Blood serum and fresh fecal samples of all ewes were collected and analyzed. The α-diversity of fecal microbiome did not differ significantly between follicular cyst ewes and normal follicle ewes. Three genera (Bacteroides , Anaerosporobacter , and Angelakisella) were identified and their balance differentiated between follicular cyst and normal follicle ewes. Alterations of several serum metabolite concentrations, belonging to lipids and lipid-like molecules, organic acids and derivatives, organic oxygen compounds, benzenoids, phenylpropanoids and polyketides, and organoheterocyclic compounds, were associated with the presence of a follicular cyst. Correlation analysis between fecal bacterial communities and serum metabolites indicated a positive correlation between Anaerosporobacter and several fatty acids, and a negative correlation between Bacteroides and L-proline. These observations provide new insights for the complex interactions of the gut microbiota and the host serum lipid profiles, and support gut microbiota as a potential strategy to treat and prevent follicular cysts in sheep. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
17. Transurethral 1470 nm diode laser vaporization versus plasma kinetic enucleation of the prostate for the treatment of benign prostatic hyperplasia: A retrospective study.
- Author
-
Huang J, Fan Y, Wang K, Ding H, Mao D, Zhao L, and Tai S
- Subjects
- Male, Humans, Retrospective Studies, Prostate surgery, Quality of Life, Prostatic Hyperplasia surgery, Laser Therapy
- Abstract
To compare the efficacy, safety, and complications of transurethral 1470 nm diode laser vaporization and plasma kinetic enucleation of prostate (PKEP) in benign prostatic hyperplasia treatment. A retrospective matched-paired comparison of patients treated using transurethral 1470 nm diode laser vaporization (n = 40) or PKEP (n = 40) was conducted. Baseline characteristics, preoperative data, and postoperative outcomes at the 24-month follow-up of the patients were recorded. The present study found no significant preoperative differences between the 2 treatment groups. Compared with PKEP, 1470 nm diode laser vaporization had a significantly shorter operation time and less intraoperative blood loss, but there were no marked differences between the 2 groups in terms of postoperative bladder irrigation time, catheterization time, and hospital stay. Moreover, at the 24-month follow-up postoperatively, there were no marked differences in the International Prostatic Symptomatic Score (IPSS), quality of life (QOL), maximum urinary flow rate (Qmax), and post-void residual urine volume (PVR) between the 2 groups. IPSS, QOL, Qmax, and PVR had improved significantly compared to preoperative assessment at 24-month follow-up in both groups and there was no significant difference in the variation of IPSS, QOL, Qmax and PVR before and after the operation. Furthermore, complications were comparable between the 2 treatment groups. Transurethral 1470 nm diode laser vaporization and PKEP are effective strategies in the treatment of benign prostatic hyperplasia. However, 1470 nm diode laser vaporization offers advantages over PKEP in terms of shortening operation time and reducing intraoperative bleeding. Nonetheless, further research with a larger number of patients and long-term follow-up is necessary to confirm and validate these findings., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)
- Published
- 2023
- Full Text
- View/download PDF
18. Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees.
- Author
-
Chen X, Zou M, Lu C, Zhou R, Lou S, Wang Y, Ding H, Han Z, and Hu B
- Abstract
Background and aims: Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. Methods: Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and their 5'and 3'flanking regions were amplified by Polymerase chain reaction (PCR). Suspected mutation was confirmed by reverse sequencing. Results: PLG activity (PLG:A) in proband 1 and 3 of his tested family members, proband 2 and 2 of his tested family members, and proband 3 and her father were all reduced to roughly 50% of normal levels. Sequencing led to the identification of a heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene in these three patients and affected family members. Conclusion: We conclude that the observed reduction in PLG:A was the result of this p .Ala620Thr missense mutation in the PLG gene. The CI incidence in these probands may be attributable to the inhibition of normal fibrinolytic activity as a consequence of this heterozygous mutation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Chen, Zou, Lu, Zhou, Lou, Wang, Ding, Han and Hu.)
- Published
- 2023
- Full Text
- View/download PDF
19. Metabolite Profile of Sheep Serum With High or Low Average Daily Gain.
- Author
-
Feng T, Ding H, Wang J, Xu W, Liu Y, and Kenéz Á
- Abstract
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
- Published
- 2021
- Full Text
- View/download PDF
20. Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
- Author
-
Liu Z, Yu C, Li Q, Cai R, Qu Y, Wang W, Wang J, Feng J, Zhu W, Ou M, Huang W, Tang D, Guo W, Liu F, Chen Y, Fu L, Zhou Y, Lv W, Zhang H, Zhang J, Wang M, Yang J, Wan K, Miao J, Yuan Z, Liu H, He X, Li W, Chen W, Ye L, Chen Y, Huang S, Liu H, Ding H, Gan X, Wang S, Qiang R, Gong M, Teng P, Wang H, Zhou M, Wei H, Liu X, Tang K, Ma Y, Wu H, Shu X, Chen Y, Zhuang D, Li H, Liu Z, Liu X, Chen Y, Zhu L, Zhu X, Mo C, Tang H, Yin F, Shao Z, Zhang P, Peng B, Lu Q, Wang Z, and Zou L
- Subjects
- Alleles, China epidemiology, Chromosome Mapping, DNA Mutational Analysis methods, Female, Genes, X-Linked, Glucosephosphate Dehydrogenase metabolism, Glucosephosphate Dehydrogenase Deficiency diagnosis, Glucosephosphate Dehydrogenase Deficiency history, History, 21st Century, Humans, Incidence, Infant, Newborn, Male, Mutation, Population Surveillance, Genetic Variation, Glucosephosphate Dehydrogenase genetics, Glucosephosphate Dehydrogenase Deficiency epidemiology, Glucosephosphate Dehydrogenase Deficiency genetics, Neonatal Screening methods, Neonatal Screening standards
- Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity-confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities., (© 2019 Wiley Periodicals, Inc.)
- Published
- 2020
- Full Text
- View/download PDF
21. Analysis of Phenotype and Genotypein an Inherited Coagulation Factor VII Deficiency Pedigree.
- Author
-
Li M, Jin Y, Wang M, and Ding H
- Subjects
- Adolescent, Adult, Aged, Antigens blood, Asian People genetics, Child, China, Factor VII Deficiency blood, Factor VII Deficiency ethnology, Female, Genotype, Heterozygote, Humans, Male, Middle Aged, Partial Thromboplastin Time, Pedigree, Phenotype, Prothrombin Time, Young Adult, Antigens genetics, Factor VII genetics, Factor VII Deficiency genetics, Mutation
- Abstract
Background: To identify potential mutations and analyze the phenotype in an inherited factor VII (FVII) deficiency pedigree., Methods: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII activity (FVII:C), FVII antigen (FVII:Ag) and other coagulant parameters of the proband and family members were measured. Calibrated automated thrombin generation measurements were used to detect coagulation status. All the exons, exonintron boundaries and 5', 3' untranslated sequences of the F7 gene in the proband and other family members were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing. The detected mutations were confirmed by sequencing the other strand and analyzed by PIC software., Results: The PT in the proband was prolonged and further study showed that the FVII:C and FVII:Ag were below the normal range, 3% and 38%, respectively. Double heterozygous mutations in the proband were identified: an A to G mutation at position 11,459 in exon 8, resulting in a p.Lys341Glu substitution, and a 2bp deletion (nt 27 del CT) mutation in exon 1a, leading to a frameshift and the creation of a premature stop codon. Both endogenous thrombin potential (ETP) and peak height in the proband were declined. Her father, brother, daughter, son, and niece were heterozygous for the nt 27 del CT mutation, while her mother, little brother, little niece, and little nephew were heterozygous for the Lys341Glu mutation, and their ETP and peak height obtained more than half normal ETP and peak height, respectively. Model analysis indicated that the Lys341Glu mutation will interrupt the electrovalent bond between 341Lys and 289Asp., Conclusions: Compound heterozygous mutations (p.Lys341Glu and nt27 del CT) which were responsible for the bleeding tendency were found in a pedigree of inherited FVII deficiency. The Lys341Glu mutation is firstly reported and nt27 del CT may be one of the mutational spots in Chinese population.
- Published
- 2019
- Full Text
- View/download PDF
22. Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide.
- Author
-
Li M, Jin Y, Wang M, Xie Y, and Ding H
- Subjects
- Adolescent, Adult, Blood Coagulation Tests, DNA Mutational Analysis, Diagnostic Errors, Factor VII Deficiency blood, Factor VII Deficiency genetics, Factor X Deficiency blood, Factor X Deficiency genetics, Female, Genetic Predisposition to Disease, Heredity, Heterozygote, Homozygote, Humans, Male, Middle Aged, Pedigree, Phenindione poisoning, Phenotype, Predictive Value of Tests, Vitamin K Deficiency blood, Vitamin K Deficiency diagnosis, Young Adult, Anticoagulants poisoning, Blood Coagulation drug effects, Blood Coagulation genetics, Factor VII genetics, Factor VII Deficiency diagnosis, Factor X genetics, Factor X Deficiency diagnosis, Mutation, Phenindione analogs & derivatives, Rodenticides poisoning, Vitamin K Deficiency chemically induced
- Abstract
Background: To explore the characteristics of laboratory examination and confirm the diagnosis of a patient with combined inherited FVII and FX deficiency after he ingested diphacinone rodenticide accidentally., Methods: The coagulant parameter screening tests and coagulation factor activities were tested many times in the patient due to accidental ingestion of a diphacinone rodenticide. After the patient was treated for more than one year, gene analysis of correlated coagulation factors was analyzed in the patient and other family members by DNA direct sequencing. 106 persons were selected as controls from routine health examinations., Results: After the patient was admitted to hospital, routine coagulation screening tests revealed the prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and low levels of vitamin K-dependent coagulation factors (FII, FVII, FIX, FX) activity, which was 102.4 seconds, 88.5 seconds, 7%, 3%, 8%, and 2%, respectively. During more than one year of treatment, the value of PT and APTT still showed significantly prolonged activity and FVII and FX activity levels were about 5%. While FII and FIX activity levels were in the normal range after 12 weeks of treatment. Two homozygous mutations, g.11267C>T of F7 gene resulting in the substitution Arg277Cys and g.28139G>T of F10 gene leading to the substitution Val384Phe, were identified in the patient. The patient's parents and sister was heterozygous for Arg277Cys and Val384Phe mutations. FVII and FX antigen levels in the patient were 7% and 30%, respectively., Conclusions: There were many similarities in the characteristics of laboratory examination between combined inherited FVII and FX deficiency and acquired vitamin K deficiency. The best way to identify them was gene analysis.
- Published
- 2016
- Full Text
- View/download PDF
23. Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency.
- Author
-
Li M, Xie H, Wang M, and Ding H
- Subjects
- Animals, COS Cells, Chlorocebus aethiops, Factor XII metabolism, Humans, Male, Middle Aged, Factor XII genetics, Factor XII Deficiency genetics, Mutation, Missense
- Abstract
Background: Congenital factor XII (FXH) deficiency is an autosomal recessive disorder whose genetic basis has been described in a relatively small number of cases., Methods: Recently, we studied a Chinese family in which the proband had obviously prolonged activated partial thromboplastin time (APTT) associated with low functional and antigen FXII levels, 5% and 6.8%, respectively. To investigate the molecular defects in this FXII-deficient patient, we performed FXII mutation screening and invitro expression studies., Results: Sequence analysis of the FXII gene revealed a heterozygous G>A transition at nucleotide 8597 in exon 13, causing a novel Asp538Asn mutation in the catalytic domain., Conclusions: From the results above, we reasoned that this mutation must confer a cross-reacting material (CRM) negative phenotype. Additional expression studies in COS-7 cells showed that the antigen level of mutant FXII (FXII-Asp538Asn) was lower compared to the wild type in culture media, whereas the corresponding level of FXII antigen in cell lysates was equivalent roughly to that of the wild type. These findings indicated that the Asp538Asn mutation results in intracellular degradation of the mutant FXII and causes FXII deficiency.
- Published
- 2015
- Full Text
- View/download PDF
24. Novel mutations (γTrp208Leu and γLys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families.
- Author
-
Zhu L, Wang Y, Zhao M, Hao X, Xie H, Xie Y, Wang M, and Ding H
- Subjects
- Adult, Afibrinogenemia blood, Afibrinogenemia complications, Afibrinogenemia ethnology, Afibrinogenemia genetics, Asian People, Child, DNA Mutational Analysis, Exons, Female, Heterozygote, Humans, Lymphadenitis blood, Lymphadenitis complications, Lymphadenitis ethnology, Male, Pedigree, Prothrombin Time, Thrombin Time, Afibrinogenemia congenital, Fibrinogen genetics, Lymphadenitis genetics, Mutation
- Abstract
Congenital hypofibrinogenemia is a rare disorder caused by heterozygous mutations in the fibrinogen genes. The aim of this study was to elucidate the molecular defects in two unrelated families with hypofibrinogenemia. The proband from family A was a 19-year-old Chinese boy who was suffering from cervical lymphadenitis. A low plasma fibrinogen concentration (0.63 g/l by Clauss method and 0.77 g/l by immunoturbidimetry) was found in routine clotting tests. Further gene analysis revealed a heterozygous g.5792 G>T mutation in exon 7 of the FGG, leading to a novel Trp208Leu change in the γ D domain. This mutation was also found in other family members with low fibrinogen levels. The proposita from family B was a 37-year-old female who suffered from recurrent shoulder pain for 7 years. Routine clotting studies revealed that her prothrombin time was 15.5 s (normal range: 11.8-14.8 s) and thrombin time was 22.8 s (normal range: 14.0-20.0 s), and the fibrinogen concentration in her plasma was only 0.64 g/l by Clauss method and 0.79 g/l by immunoturbidimetry. A heterozygous A>C transition at nucleotide 5864 of FGG was found in the γ chain, causing a Lys232Thr substitution in the fibrinogen. Further sequencing established that her mother, son, brother and nephew were also heterozygous for the mutation.
- Published
- 2014
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.