Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Jianmin Zhong"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
METTL23 belongs to a family of protein lysine methyltransferases that methylate non-histone proteins. Recently, the METTL23 gene has been reported to be related to an intellectual developmental disorder, autosomal recessive 44. Patients present with
Externí odkaz:
https://doaj.org/article/58c141f07a1042f6ab6269c17cceb80d
Autor:
Jian Zha, Yong Chen, Fangfang Cao, Yuxin Xu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Huaping Wu, Jianmin Zhong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as a main pathogenic gene. Methods
Externí odkaz:
https://doaj.org/article/80cbee6e48c84bbba04e093af888ceb0
Publikováno v:
BMC Pulmonary Medicine, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background To clarify the relationship between the PaO2/FiO2 and 28-day mortality in patients with sepsis. Methods This was a retrospective cohort study regarding MIMIC-IV database. Nineteen thousand two hundred thirty-three patients with se
Externí odkaz:
https://doaj.org/article/ab4ccc476f544247a10155189492ddd9
Autor:
Brandon Hill, Ben Schafer, Nolan Vargas, Danny Zamora, Rohan Shrotri, Sarahi Perez, Geoffrey Farmer, Aren Avon, Anirudh Pai, Hirotada Mori, Jianmin Zhong
Publikováno v:
Ticks and Tick-Borne Diseases, Vol 14, Iss 6, Pp 102217- (2023)
Nutritive symbiosis between bacteria and ticks is observed across a range of ecological contexts; however, little characterization on the molecular components responsible for this symbiosis has been done. Previous studies in our lab demonstrated that
Externí odkaz:
https://doaj.org/article/af1104e07bad4f17a85b9d0319fbca83
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundReversible splenial lesion syndrome (RESLES) is a new clinico-radiological syndrome. We retrospectively analyzed the clinical features of 130 children with RESLES in China, which is the largest case series available in the literature.Method
Externí odkaz:
https://doaj.org/article/a66a8f4769774e85abe0f7255fc56a56
Autor:
Xingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong
Publikováno v:
Acta Epileptologica, Vol 5, Iss 1, Pp 1-8 (2023)
Abstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example,
Externí odkaz:
https://doaj.org/article/8d90dc4ce1194d3aa8b2c6d111d3a7ed
Publikováno v:
Acta Epileptologica, Vol 4, Iss 1, Pp 1-7 (2022)
Abstract Background To realize the clinical characteristics of long QT syndrome (LQTS) caused by antiseizure medicines (ASMs), and to improve the prevention and management of ASM-acquired QT syndrome. Case presentation A case of ASM-acquired QT syndr
Externí odkaz:
https://doaj.org/article/dd04a388761a417898673c5cff1a2dd5
Autor:
Xiaoyan Li, Zhixin Huang, Yong Chen, Xiaolan Sun, Zhaoshi Yi, Jihua Xie, Xiongying Yu, Hui Chen, Jianmin Zhong
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Thiamine metabolism dysfunction syndrome 5 (THMD5) is a rare inherited metabolic disorder due to thiamine pyrophosphokinase 1(TPK1) deficiency, caused by mutations in TPK1. The core symptoms of the disease is acute or subacute ons
Externí odkaz:
https://doaj.org/article/ee951706fe034d26b441469169dbf7d3
Autor:
Yuanzhen Ye, Dan Sun, Hua Li, Jianmin Zhong, Rong Luo, Baomin Li, Dengna Zhu, Dan Li, Shaoping Huang, Yuwu Jiang, Nong Xiao, Yucai Chen, Yuqin Zhang, Mei Yu, Xiaoyun Shen, Li Gao, Guo Zheng, Congmin Zhao, Baoqiang Yuan, Jianxiang Liao, Jiong Qin, CAAE KD group
Publikováno v:
Acta Epileptologica, Vol 4, Iss 1, Pp 1-8 (2022)
Abstract Background Ketogenic diet (KD) therapy is one of the main treatments for drug-resistant epilepsy. However, the KD therapy has been applied in only a small number of infantile spasm cases. In this large multicenter study, we investigated the
Externí odkaz:
https://doaj.org/article/88f47990d1794c89961a9863eb0d35b9
Autor:
Hui Chen, Xiaoyan Li, Huaping Wu, Xiaolan Sun, Yuanyuan Che, Jian Zha, Ruiyan Wang, Xiongying Yu, Yong Chen, Jianmin Zhong
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and
Externí odkaz:
https://doaj.org/article/b780be61825d4781b0211f0621f45cf4