Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Sophelia H. S. Chan"'
Autor:
Carlos K. H. Wong, Kristy T. K. Lau, Ivan C. H. Au, Sophelia H. S. Chan, Eric H. Y. Lau, Benjamin J. Cowling, Gabriel M. Leung
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-7 (2024)
Abstract Currently there is a lack of randomized trial data examining the use of the antiviral nirmatrelvir/ritonavir in paediatric patients with SARS-CoV-2 infection. This target trial emulation study aims to address this gap by evaluating the use o
Externí odkaz:
https://doaj.org/article/231ad1a19f524d35b5f0b8d19196631d
Autor:
Ye Peng, Annie T. G. Chiu, Vivien W. Y. Li, Xi Zhang, Wai L. Yeung, Sophelia H. S. Chan, Hein M. Tun
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundEpilepsy-associated dysbiosis in gut microbiota has been previously described, but the mechanistic roles of the gut microbiome in epileptogenesis among children with cerebral palsy (CP) have yet to be illustrated.MethodsUsing shotgun metage
Externí odkaz:
https://doaj.org/article/9b26702e40804a31b51b4ceca273ac87
Autor:
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation
Externí odkaz:
https://doaj.org/article/8b47cc4e100149eabcf38a90b8391572
Autor:
Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome
Externí odkaz:
https://doaj.org/article/5a0b380eb4b7467591756076bbbcdea8
Autor:
Sophelia H. S. Chan, Carlos K. H. Wong, Tingting Wu, Wilfred Wong, Michael K. L. Yu, Ivan C. H. Au, Godfrey C. F. Chan
Publikováno v:
The European Journal of Health Economics.
Objectives The aim of this study is to quantify the mortality rate, direct healthcare costs, and cumulative life costs of pediatric patients with spinal muscular atrophy (SMA) type 1, type 2, and type 3 born in Hong Kong. Methods Data were collected
Autor:
Thomas Liu, Sophelia H. S. Chan, YW Wong, Stella Chim, Nai Shun Tsoi, Paul Aarne Koljonen, Alvin Chi-chung Ho
Publikováno v:
Neuromodulation: Technology at the Neural Interface. 24:1223-1228
OBJECTIVES Intrathecal baclofen pump associated central nervous system (CNS) infection and meningitis is a rare but serious complication and may have dire consequences. Due to bacterial biofilm formation, the optimal treatment strategy is usually for
Publikováno v:
Journal of Bone and Mineral Metabolism. 39:606-611
Osteoporosis is a major health issue in boys with Duchenne muscular dystrophy (DMD). Data on the specific bone deficits and microarchitectural alterations in children with DMD were limited. This study aimed to assess the bone microarchitectural alter
Autor:
Yu-Lung Lau, Alvin Chi-chung Ho, Chack-Yung Yu, Danlei Zhou, Gilbert T. Chua, Sophelia H. S. Chan
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-4 (2020)
BMC Neurology
BMC Neurology
Background Complement C4A or C4B deficiency has never been reported in autoantibody-associated encephalitides patient. Here we present a case of anti-N-methyl- D-aspartate (NMDA) receptor encephalitis associated with homozygous C4B deficiency, who di
Autor:
Hong Zhang, Jingying Liu, Yun Yuan, Carsten G. Bönnemann, Bing Mao, Dandan Tan, Hui Xiong, Hui Yan, Lin Ge, Xu Zhang, Xingzhi Chang, Cheng Zhang, Sophelia H. S. Chan, Danyu Song, Zhaoxia Wang, Shuang Wang, Xiru Wu, Qixi Wu, Suxia Wang, Haipo Yang, Yanbin Fan, Liwen Wu
Publikováno v:
Journal of Medical Genetics. 58:326-333
BackgroundLMNA-related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-phenotype corre
Autor:
Harumasa Nakamura, Yuh-Jyh Jong, Raymond L. Rosales, Fumi Takeuchi, Andrew J. Kornberg, Sara Khan, Ichizo Nishino, Ikuya Nonaka, Josiah Chai, Ohnmar Ohnmar, Naohiro Yonemoto, Kum Thong Wong, Dingguo Shen, Sophelia H. S. Chan, Dae-Seong Kim, Shin'ichi Takeda, Allan H. Bretag, Charungthai Dejthevaporn, Hirofumi Komaki, Khean Jin Goh, Satish V Khadilkar
Publikováno v:
Brain and Development. 42:277-288
Background: Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related