Zobrazeno 1 - 10
of 5 787
pro vyhledávání: '"ZHANG Jianguo"'
Autor:
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) Study Group, WU Nan
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 295-303 (2024)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to unde
Externí odkaz:
https://doaj.org/article/db6025bccc7742379bb0fdaab73a2b71
Publikováno v:
Xibei zhiwu xuebao, Vol 44, Iss 6, Pp 891-903 (2024)
Abstract [Objective] The purpose of the research was to explore the evolutionary pattern of chloroplast genome in Elaeagnaceae, and to provide a basis for species identification and resource exploitation of Elaeagnaceae. [Methods] This study assemb
Externí odkaz:
https://doaj.org/article/ffe72bfddf98434e91844a60445ba872
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 523-528 (2023)
Objective To analyze the clinical characteristics, treatments and prognosis of pachydermoperiostosis (PDP) with synovitis, and to improve clinicians′ understanding of PDP. Methods The clinical data of 5 patients diagnosed with PDP in Peking Union M
Externí odkaz:
https://doaj.org/article/0afef7f278014d1f9b66d820229c0707
Autor:
XU Kexin, LI Guozhuang, WU Zhihong, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) Study Group, ZHANG Jianguo, WU Nan
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 633-640 (2023)
Joint hypermobility (JH) refers to the ability of joints to move beyond the 'normal' limits, which can be either physiologic or pathologic. Hypermobility spectrum disorders (HSDs) are a group of joint hypermobility-related clinical conditions. HSDs p
Externí odkaz:
https://doaj.org/article/fd695b79149147a194738e68b9ba6273
Autor:
LI Zhiyi, ZHAO Yiwei, DU You, LI Chenkai, ZHANG Haoran, LIN Guanfeng, YANG Yang, YE Xiaohan, WANG Shengru, ZHANG Jianguo
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 529-538 (2023)
Objective Different from other etiologies of early-onset scoliosis (EOS), congenital early-onset scoliosis (CEOS) is mainly linked to vertebral anomalies, such as formation failures and segmentation failures at the apex segments. So far, there is lit
Externí odkaz:
https://doaj.org/article/bb32d4a995b245f7ae1c56261927a72b
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 469-475 (2023)
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients. The approach uses symptoms, signs, various medical examination and laboratory results, and
Externí odkaz:
https://doaj.org/article/8ca809fdfad04eef938397d23aab0e6d
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 476-482 (2023)
Marfan syndrome(MFS) is an autosomal dominant systemic connective tissue disease. The incidence rate of MFS is about 2-3 per 10 000. Main cause of MFS is FBN1 gene mutation. About 2/3 of MFS patients have spinal deformities, showing symptoms of scoli
Externí odkaz:
https://doaj.org/article/d7d1d8b3dbaf4f1bb6aa17e19726f875
Autor:
ZHANG Jianguo
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 463-468 (2023)
Congenital scoliosis is an early-onset spinal deformity cauded by somitogenesis abnormalities. This disease is characterized by rapidly progressing in deformities, often accompanied by concurrent organ malformations. Current treatments include conser
Externí odkaz:
https://doaj.org/article/cdcf8160dc2e4f829f3dfbb2251e1b3b
Autor:
LI Guozhuang, XU Kexin, ZHAO Sen, ZHANG Jianguo, QIU Guixing, SUI Ruifang, WANG Tao, SHEN Min, ZENG Xuejun, WANG Wei, MA Mingsheng, WEI Min, LONG Xiao, LYU Ke, HUO Li, XUAN Lei, WU Nan
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 547-553 (2023)
Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extreme
Externí odkaz:
https://doaj.org/article/3649a4c3f98c4b3a9d93d2b6873ffd03
Autor:
ZHANG Haoran, ZHANG Jianguo
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 607-610 (2023)
Distal arthrogryposis is a rare disease caused by mutations in genes encoding proteins involved in muscle fiber contraction. Its joint contracture mainly involves distal joint contracture, and scoliosis is often accompanied by pelvic tilt and abnorma
Externí odkaz:
https://doaj.org/article/82c74b9ba81c42a7a52bea2aa076cf45