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Your search keyword '"Kang, Wenqing"' showing total 18 results
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18 results on '"Kang, Wenqing"'

4. Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project

Author

Huang, Zhelan, Shen, Qian, Wu, Bingbing, Wang, Huijun, Dong, Xinran, Lu, Yulan, Cheng, Guoqiang, Wang, Laishuan, Lu, Wei, Chen, Liping, Kang, Wenqing, Li, Long, Pan, Xinnian, Wei, Qiufen, Zhuang, Deyi, Chen, Dongmei, Yin, Zhaoqing, Yang, Ling, Ni, Qi, Liu, Renchao, Li, Gang, Zhang, Ping, Qian, Yanyan, Peng, Xiaomin, Wang, Yao, Cao, Yun, Xu, Hong, Hu, Liyuan, Yang, Lin, and Zhou, Wenhao

Published
2023
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5. Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening

Author

Ji, Xiaoshan, primary, Ge, Yanzhuang, additional, Ni, Qi, additional, Xu, Suhua, additional, Xiong, Zhongmeng, additional, Yang, Lin, additional, Hu, Liyuan, additional, Cao, Yun, additional, Lu, Yulan, additional, Wei, Qiufen, additional, Kang, Wenqing, additional, Zhuang, Deyi, additional, Zhou, Wenhao, additional, and Dong, Xinran, additional

Published
2023
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8. Drug resistance characteristics and molecular typing of Escherichia coli isolates from neonates in class A tertiary hospitals: A multicentre study across China

Author

Gu, Song, primary, Lai, Jidong, additional, Kang, Wenqing, additional, Li, Yangfang, additional, Zhu, Xueping, additional, Ji, Tongzhen, additional, Feng, Jinxing, additional, Zhao, Liping, additional, Li, Zhankui, additional, Dong, Lijie, additional, Hou, Guoqiang, additional, Zhu, Yao, additional, Li, Zhaohui, additional, He, Canlin, additional, Geng, Haifeng, additional, Pang, Dan, additional, and Wang, Yajuan, additional

Published
2022
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9. Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project

Author

Xiao, Tiantian, primary, Wang, Jin, additional, Wang, Huijun, additional, Mei, Hongfang, additional, Dong, Xinran, additional, Lu, Yulan, additional, Cheng, Guoqiang, additional, Wang, Laishuan, additional, Hu, Liyuan, additional, Lu, Wei, additional, Ni, Qi, additional, Li, Gang, additional, Zhang, Ping, additional, Qian, Yanyan, additional, Li, Xu, additional, Peng, Xiaomin, additional, Wang, Yao, additional, Shen, Chun, additional, Chen, Gong, additional, Dou, Ya-lan, additional, Cao, Yun, additional, Chen, Liping, additional, Kang, Wenqing, additional, Li, Long, additional, Pan, Xinnian, additional, Wei, Qiufen, additional, Zhuang, Deyi, additional, Chen, Dong-mei, additional, Yin, Zhaoqing, additional, Wang, Jianshe, additional, Yang, Lin, additional, Wu, Bingbing, additional, and Zhou, Wenhao, additional

Published
2022
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10. Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project

Author

Wang, Huijun, primary, Xiao, Feifan, additional, Qian, Yanyan, additional, Wu, Bingbing, additional, Dong, Xinran, additional, Lu, Yulan, additional, Cheng, Guoqiang, additional, Wang, Laishuan, additional, Yan, Kai, additional, Yang, Lin, additional, Chen, Liping, additional, Kang, Wenqing, additional, Li, Long, additional, Pan, Xinnian, additional, Wei, Qiufen, additional, Zhuang, Deyi, additional, Chen, Dongmei, additional, Yin, Zhaoqing, additional, Yang, Ling, additional, Ni, Qi, additional, Liu, Renchao, additional, Li, Gang, additional, Zhang, Ping, additional, Li, Xu, additional, Peng, Xiaomin, additional, Wang, Yao, additional, Chen, Huiyao, additional, Ma, Xiaojing, additional, Liu, Fang, additional, Cao, Yun, additional, Huang, Guoying, additional, and Zhou, Wenhao, additional

Published
2022
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13. Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?

Author

Ma, Haiyan, primary, Tang, Zezhong, additional, Xiao, Feifan, additional, Li, Long, additional, Li, Yangfang, additional, Tang, Wenyan, additional, Chen, Liping, additional, Kang, Wenqing, additional, Lu, Yulan, additional, Dong, Xinran, additional, Cheng, Guoqiang, additional, Wang, Laishuan, additional, Lu, Wei, additional, Yang, Lin, additional, Ni, Qi, additional, Peng, Xiaomin, additional, Wang, Yao, additional, Cao, Yun, additional, Wu, Bingbing, additional, Zhou, Wenhao, additional, Zhuang, Deyi, additional, Lin, Guang, additional, and Wang, Huijun, additional

Published
2021
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14. Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project

Author

Wang, Huijun, Xiao, Feifan, Qian, Yanyan, Wu, Bingbing, Dong, Xinran, Lu, Yulan, Cheng, Guoqiang, Wang, Laishuan, Yan, Kai, Yang, Lin, Chen, Liping, Kang, Wenqing, Li, Long, Pan, Xinnian, Wei, Qiufen, Zhuang, Deyi, Chen, Dongmei, Yin, Zhaoqing, Yang, Ling, Ni, Qi, Liu, Renchao, Li, Gang, Zhang, Ping, Li, Xu, Peng, Xiaomin, Wang, Yao, Chen, Huiyao, Ma, Xiaojing, Liu, Fang, Cao, Yun, Huang, Guoying, and Zhou, Wenhao

Abstract

BackgroundCongenital heart defects (CHDs) are the most common type of birth defects. The genetic aetiology of CHD is complex and incompletely understood. The overall distribution of genetic causes in patients with CHD from neonatal intensive care units (NICUs) needs to be studied.MethodsCHD cases were extracted from the China Neonatal Genomes Project (2016–2021). Next-generation sequencing results and medical records were retrospectively evaluated to note the frequency of genetic diagnosis and the respective patient outcomes.ResultsIn total, 1795 patients were included. The human phenotype ontology term of atrial septal defect, patent ductus arteriosus and ventricular septal defect account for a large portion of the CHD subtype. Co-occurring extracardiac anomalies were observed in 35.1% of patients. 269 of the cases received genetic diagnoses that could explain the phenotype of CHDs, including 172 copy number variations and 97 pathogenic variants. The detection rate of trio-whole-exome sequencing was higher than clinical exome sequencing (21.8% vs 14.5%, p<0.05). Further follow-up analysis showed the genetic diagnostic rate was higher in the deceased group than in the surviving group (29.0% vs 11.9%, p<0.05).ConclusionThis is the largest cohort study to explore the genetic spectrum of patients with CHD in the NICU in China. Our findings may benefit future work on improving genetic screening and counselling for NICU patients with CHD.

Published
2023
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15. Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project

Author

Xiao, Tiantian, Wang, Jin, Wang, Huijun, Mei, Hongfang, Dong, Xinran, Lu, Yulan, Cheng, Guoqiang, Wang, Laishuan, Hu, Liyuan, Lu, Wei, Ni, Qi, Li, Gang, Zhang, Ping, Qian, Yanyan, Li, Xu, Peng, Xiaomin, Wang, Yao, Shen, Chun, Chen, Gong, Dou, Ya-lan, Cao, Yun, Chen, Liping, Kang, Wenqing, Li, Long, Pan, Xinnian, Wei, Qiufen, Zhuang, Deyi, Chen, Dong-mei, Yin, Zhaoqing, Wang, Jianshe, Yang, Lin, Wu, Bingbing, and Zhou, Wenhao

Abstract

ObjectiveTo investigate the distribution of aetiologies and outcomes in neonates with prolonged neonatal jaundice.DesignAn observational study.SettingMultiple tertiary centres from the China Neonatal Genome Project.PatientsTerm infants with jaundice lasting more than 14 days or preterm infants with jaundice lasting more than 21 days were recruited between 1 June 2016 and 30 June 2020.Main outcome measuresAetiology and outcomes were recorded from neonates with prolonged unconjugated hyperbilirubinaemia (PUCHB) and prolonged conjugated hyperbilirubinaemia (PCHB).ResultsA total of 939 neonates were enrolled, and known aetiologies were identified in 84.1% of neonates (790 of 939). Among 411 neonates with PCHB, genetic disorders (27.2%, 112 of 411) were the leading aetiologies. There were 8 deceased neonates, 19 neonates with liver failure and 12 with neurodevelopmental delay. Among 528 neonates with PUCHB, a genetic aetiology was identified in 2 of 219 neonates (0.9%) who showed disappearance of jaundice within 4 weeks of age and in 32 of 309 neonates (10.4%) with persistent jaundice after 4 weeks of age. A total of 96 of 181 neonates (53.0%) who received genetic diagnoses had their clinical diagnosis modified as a result of the genetic diagnoses.ConclusionKnown aetiologies were identified in approximately 80% of neonates in our cohort, and their overall outcomes were favourable. Genetic aetiology should be considered a priority in neonates with PCHB or the persistence of jaundice after 4 weeks of age. Moreover, genetic data can modify the clinical diagnosis and guide disease management, potentially improving outcomes.

Published
2023
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16. [Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core disease].

Author

Dong X, Zheng X, Lin F, Feng L, Xiong H, and Kang W

Subjects
Exons, Genetic Testing, Humans, Infant, Newborn, Mutation, Pedigree, Ryanodine Receptor Calcium Release Channel genetics, Myopathy, Central Core
Abstract

Objective: To investigate the possible causative factors of central core disease(CCD), the clinical features of a neonatal case with CCD and five patients in the pedigree line were analyzed for RYR1 gene variant., Methods: Medical and family history inquiries and detailed clinical examinations were performed in the proband. High-throughput sequencing technology was applied to analyze the gene variant of the proband, and Sanger sequencing was applied to verify the pedigree distribution of the variant., Results: The whole exon sequencing results showed that the proband has a missense variant of c. 14591A>C (p.Tyr4864Ser) in the RYR1 gene which was unreported previously; Sanger sequencing results showed that the father, grandfather, the eldest aunt and second aunt of the proband all carried the same variant. The c.14591 A>C variant of RYR1 gene was predicted to be a likely pathogenic (PM2+PM5+PP1+PP3) according to the American College of Medical Genetics and Genomics standards and guidelines., Conclusion: The RYR1 gene c.14591A>C (p.Tyr4864Ser) variant may be the genetic cause of the pedigree and genetic testing helps to clarify the diagnosis. Identification of this variant has enriched the variant spectrum of the RYR1 gene.

Published
2022
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17. [Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].

Author

Dong X, Dong H, Kang W, Xiong H, Xu B, Lin F, and Zheng X

Subjects
Aquaporin 2 genetics, Child, Humans, Infant, Newborn, Male, Molecular Biology, Mutation, Pedigree, Receptors, Vasopressin genetics, Diabetes Insipidus, Nephrogenic genetics, Diabetes Mellitus
Abstract

Objective: To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI)., Methods: Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results., Results: The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645&#95;646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic., Conclusion: AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.

Published
2021
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18. Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.

Author

Wu B, Kang W, Wang Y, Zhuang D, Chen L, Li L, Su Y, Pan X, Wei Q, Tang Z, Li Y, Gao J, Cheng R, Zhou W, Wang Z, Qiu G, Wang J, Yang L, Zhang P, Zhao X, Wang Y, Gan M, Li G, Liu R, Ni Q, Xiao F, Yan K, Cao Y, Lu G, Lu Y, Wang H, and Zhou W

Subjects
China, Critical Illness therapy, Humans, Infant, Infant, Newborn, Outcome Assessment, Health Care methods, Prospective Studies, Time Factors, Whole Genome Sequencing statistics & numerical data, Diagnostic Techniques and Procedures trends, Outcome Assessment, Health Care statistics & numerical data, Whole Genome Sequencing methods
Abstract

Objectives: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants., Design: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and biological parents). The study occurred between April 2019 and December 2019., Setting: Thirteen member hospitals of the China Neonatal Genomes Project spanning 10 provinces were involved., Participants: Critically ill infants (n = 202), from birth up until 13 months of life were enrolled based on eligibility criteria (e.g., CNS anomaly, complex congenital heart disease, evidence of metabolic disease, recurrent severe infection, suspected immune deficiency, and multiple malformations)., Interventions: None., Measurements and Main Results: Of the 202 participants, neuromuscular (45%), respiratory (22%), and immunologic/infectious (18%) were the most commonly observed phenotypes. The diagnostic yield of trio-rapid genome sequencing was higher than that of proband-only clinical exome sequencing (36.6% [95% CI, 30.1-43.7%] vs 20.3% [95% CI, 15.1-26.6%], respectively; p = 0.0004), and the average turnaround time for trio-rapid genome sequencing (median: 7 d) was faster than that of proband-only clinical exome sequencing (median: 20 d) (p < 2.2 × 10-16). The metagenomic analysis identified pathogenic or likely pathogenic microbes in six infants with symptoms of sepsis, and these results guided the antibiotic treatment strategy. Sixteen infants (21.6%) experienced a change in clinical management following trio-rapid genome sequencing diagnosis, and 24 infants (32.4%) were referred to a new subspecialist., Conclusions: Trio-rapid genome sequencing provided higher diagnostic yield in a shorter period of time in this cohort of critically ill infants compared with proband-only clinical exome sequencing. Precise and fast molecular diagnosis can alter medical management and positively impact patient outcomes., Competing Interests: The authors have disclosed that they do not have any potential conflicts of interest., (Copyright © 2021 by the Society of Critical Care Medicine and Wolters Kluwer Health, Inc. All Rights Reserved.)

Published
2021
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