Zobrazeno 1 - 10
of 7 872
pro vyhledávání: '"clinical manifestations"'
Publikováno v:
Паёми Сино, Vol 26, Iss 3, Pp 427-438 (2024)
Acute cerebrovascular accident (CVA) is a severe condition in children and adolescents with a high risk of disability. A literature review was carried outon intensive stroke care in children and adolescents using databases such as PubMed, Science Dir
Externí odkaz:
https://doaj.org/article/a35fb9d58263468f91b595b8889f6096
Autor:
WANG Shihong, LI Jing
Publikováno v:
Zhongguo quanke yixue, Vol 27, Iss 36, Pp 4609-4614 (2024)
Background Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that primarily affects the vasculature and exhibits a broad spectrum of clinical manifestations. There is a paucity of detailed literature on its clinical characteristi
Externí odkaz:
https://doaj.org/article/f6f51f9a5729496d9c7e326b22b93ba1
Publikováno v:
Journal of Family Medicine and Primary Care, Vol 13, Iss 8, Pp 3011-3016 (2024)
Background: Snakebites are a common medical emergency and occupational hazard for children in India, particularly in rural areas where poverty is prevalent. However, there is limited data on the epidemiology of snakebites on the Indian subcontinent.
Externí odkaz:
https://doaj.org/article/237288f838bd434e934ee1b1e343abe9
Autor:
LIN Wanjun, LIANG Cuili, FU Wen, ZHANG Liyu, JIA Wei, HU Jinhua, ZHANG Wen, LIN Yunting, NIU Huilin, FAN Liping, LU Zhikun, LI Duan, LIU Zongcai, SHENG Huiying, YIN Xi, CHEN Xiaodan, LIU Guochang, CHENG Jing, LIU Li
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 310-317 (2024)
ObjectiveTo investigate the clinical manifestations, molecular genetics and gonadal pathology characteristics of patients with disorders of sex development (DSD), and to summarize the clinical experience of identifying rare diseases from common sympt
Externí odkaz:
https://doaj.org/article/d17677a8abbe4af48eb0e98151bcff0e
Autor:
Damian May, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in
Externí odkaz:
https://doaj.org/article/85d4f235fe314dd9b90f1126e2424377
Publikováno v:
International Journal of Emergency Medicine, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Introduction Severe multisystem inflammatory syndrome in children (MIS-C) and severe dengue are challenging to identify during the COVID-19 pandemic in dengue-endemic areas. Fever, multiorgan involvement, and shock characterize both severe M
Externí odkaz:
https://doaj.org/article/a306e1c36de2437281688df7e09fadef
Publikováno v:
Антибиотики и Химиотерапия, Vol 69, Iss 3-4, Pp 51-57 (2024)
The article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections,
Externí odkaz:
https://doaj.org/article/ceea7e4feeb6439eaec3d47ba530625a
Autor:
Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis
Externí odkaz:
https://doaj.org/article/c32942ccee0a44c2b040003739d3ee24
Autor:
Jiana Zhang, Yuhan Luo, Linchang Zhong, Huiming Liu, Zhengkun Yang, Ai Weng, Yue Zhang, Weixi Zhang, Zhicong Yan, Jinping Xu, Gang Liu, Kangqiang Peng, Zilin Ou
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Accumulating neuroimaging evidence indicates that patients with cervical dystonia (CD) have changes in the cortico-subcortical white matter (WM) bundle. However, whether these patients’ WM structural networks undergo reorganizat
Externí odkaz:
https://doaj.org/article/70e2c8f475944d328b092a363a4574fb
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 2399-2407 (2024)
Ruifang Shi,1,* Fan Yang,1,* Hongli Wu,2 Yonggang Liu1 1Department of Pathology, Tianjin Institute of Hepatology, Tianjin Second People’s Hospital, Tianjin, 300192, People’s Republic of China; 2Department of Clinical Lab, Tianjin Institut
Externí odkaz:
https://doaj.org/article/09c57453ac5a4523bf151e7dc37a7d64