Results 41 to 50 of about 43,151 (205)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Clinical and laboratory characteristics of severe fever with thrombocytopenia syndrome in Chinese patients

Brazilian Journal of Infectious Diseases, 2014
Severe fever with thrombocytopenia syndrome (SFTS) associated with severe fever with thrombocytopenia syndrome virus (SFTSV) is an emerging infectious disease.
Yali Weng, Nian Chen, Yaping Han, Yiping Xing, Jun Li   +4 more
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Severe Fever with Thrombocytopenia Syndrome Virus, Shandong Province, China

Emerging Infectious Diseases, 2012
Severe fever with thrombocytopenia syndrome, which results in severe illness and has a high case-fatality rate, is caused by a novel bunyavirus, severe fever with thrombocytopenia syndrome virus.
Li Zhao, Shenyong Zhai, Hongling Wen, Feng Cui, Yuanyuan Chi, Ling Wang, Fuzhong Xue, Qian Wang, Zhiyu Wang, Shoufeng Zhang, Yanyan Song, Jun Du, Xue-jie Yu   +12 more
doaj   +1 more source

Correlation of cytokine level with the severity of severe fever with thrombocytopenia syndrome [PDF]

Virology Journal, 2017
Severe fever with thrombocytopenia syndrome (SFTS) was an emerging hemorrhagic fever that was caused by a tick-borne bunyavirus, SFTSV. Although SFTSV nonstructural protein can inhibit type I interferon (IFN-I) production Ex Vivo and IFN-I played key role in resistance SFTSV infection in animal model, the role of IFN-I in patients is not investigated ...
Liu, Miao-Miao, Lei, Xiao-Ying, Yu, Hao, Zhang, Jian-zhi, Yu, Xue-jie   +4 more
openaire   +2 more sources

Fatal patients with severe fever with thrombocytopenia syndrome in China

International Journal of Infectious Diseases, 2022
Severe fever with thrombocytopenia syndrome (SFTS) is an emerging tick-borne infectious disease with a high case fatality rate. Key gaps remained as to the assessment of the clinical picture in fatal cases.A retrospective study was performed on 496 patients with fatal SFTS.
Jing Zhao, Hong-Han Ge, Gang Wang, Lei Lin, Yang Yuan, Yan-Li Xu, Yuan-Ni Liu, Qing-Bin Lu, Xiao-Ai Zhang, Ning Cui, Chun Yuan, Jian-Xiong Li, Ling Lin, Hao Li, Wei Liu   +14 more
openaire   +3 more sources

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Pharmacokinetics, effectiveness and safety of certolizumab pegol in children and adolescents with active juvenile idiopathic arthritis: 9+‐year results from a multicenter, open‐label study

Arthritis &Rheumatology, Accepted Article.
Objective To assess the pharmacokinetics, effectiveness, safety, and immunogenicity of certolizumab pegol (CZP) in polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods Pediatric Arthritis Study of Certolizumab Pegol (NCT01550003), a multicenter, open‐label study, enrolled patients 2–17 years with active pcJIA and inadequate response ...
Hermine I Brunner, Lyudmila Grebenkina, Irina Nikishina, Ekaterina Alexeeva, Vyacheslav Chasnyk, Carlos Abud‐Mendoza, Nadina Rubio‐Pérez, Heinrike Schmeling, María del Rocio Maldonado‐Velázquez, Diane Brown, Andrew Zeft, Esi Morgan, C. Egla Rabinovich, Daniel Kingsbury, Hulya Bukulmez, Beth Gottlieb, Thomas Griffin, Lisa Imundo, Stacey Tarvin, Earl Silverman, Laura Shaughnessy, Saori Shimizu, Paulette Williams, Rocío Lledó‐García, Gauri Utturkar, Baran Ufuktepe, Alberto Martini, Daniel Lovell, Nicolino Ruperto   +28 more
wiley   +1 more source

Fatal Tickborne Phlebovirus Infection in Captive Cheetahs, Japan

Emerging Infectious Diseases, 2018
Two captive cheetahs from a zoo in Japan died of a severe fever with thrombocytopenia syndrome–like illness. Severe fever with thrombocytopenia syndrome virus, an endemic tickborne phlebovirus, was detected systemically with secretion of infectious ...
Keita Matsuno, Noriyuki Nonoue, Ayako Noda, Nodoka Kasajima, Keita Noguchi, Ai Takano, Hiroshi Shimoda, Yasuko Orba, Mieko Muramatsu, Yoshihiro Sakoda, Ayato Takada, Shinji Minami, Yumi Une, Shigeru Morikawa, Ken Maeda   +14 more
doaj   +1 more source

Identification of severe fever with thrombocytopenia syndrome virus genotypes in patients and ticks in Liaoning Province, China

Parasites & Vectors, 2022
Background Severe fever with thrombocytopenia syndrome (SFTS), caused by the SFTS virus (SFTSV), is an acute infectious disease transmitted by ticks that has recently been identified.
Xiao-Hu Han, Yue Ma, Hong-Yan Liu, Dan Li, Yan Wang, Feng-Hua Jiang, Qing-Tian Gao, Feng Jiang, Bao-Shan Liu, Guo-Shun Shen, Ze-Liang Chen   +10 more
doaj   +1 more source