Results 101 to 110 of about 129,482 (378)

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Pathological changes and viral antigen distribution in tissues of Iberian hare (Lepus granatensis) naturally infected with the emerging recombinant myxoma virus (ha‐MYXV)

Veterinary Record, Volume 192, Issue 1, 7/14 January 2023., 2023
Abstract Background A cross‐species jump was confirmed in 2018, when a novel recombinant myxoma virus (MYXV) (ha‐MYXV) caused high mortality in Iberian hare (Lepus granatensis) in the Iberian Peninsula. Method The aim of this study was to evaluate the main lesions, tissular distribution and target cells of ha‐MYXV in Iberian hare.
Irene Agulló‐Ros, Débora Jiménez‐Martín, Leonor Camacho‐Sillero, Christian Gortázar, Lorenzo Capucci, David Cano‐Terriza, Irene Zorrilla, Félix Gómez‐Guillamón, Ignacio García‐Bocanegra, María A. Risalde   +9 more
wiley   +1 more source

Spatial Effects of the Social Marketing of Insecticide-Treated Nets on Malaria Morbidity. [PDF]

, 2005
Randomized controlled trials have shown that insecticide-treated nets (ITNs) have an impact on both malaria morbidity and mortality. Uniformly high coverage of ITNs characterized these trials and this resulted in some protection of nearby non-users of ...
Anonymous, Binka FN, Charlwood JD, Fraser-Hurt N, Hightower AW, Lengeler C, Lines JD, Lines JD, Nevill CG, Wolfinger R   +9 more
core   +1 more source

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.

Journal of the American Medical Association (JAMA), 2015
IMPORTANCE Gaucher disease type 1 is characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. A safe, effective oral therapy is needed.
P. Mistry, E. Lukina, H. Ben Turkia, D. Amato, H. Baris, M. Dasouki, M. Ghosn, A. Mehta, S. Packman, G. Pastores, M. Petakov, S. Assouline, M. Balwani, S. Danda, E. Hadjiev, Andrés Ortega, S. Shankar, M. Solano, Leorah Ross, J. Angell, M. J. Peterschmitt   +20 more
semanticscholar   +1 more source

Identification of potential antigenic peptides of Brucella through proteome and peptidome

Veterinary Medicine and Science, Volume 9, Issue 1, Page 523-534, January 2023., 2023
Based on proteomics and peptidomics, we identified 35 peptides from the Brucella proteome, which have the ability to bind MHC molecules and have the potential to be used in vaccine design. In addition, we also found four Brucella proteins containing the identified MHC‐I and MHC‐II binding peptides, which may be good candidate targets for designing ...
Meijuan Pei, Ao Dong, Xueping Ma, Shulei Li, Yan Guo, Menglan Li, Zhenghui Wang, Hengliang Wang, Li Zhu, Chao Pan, Yufei Wang   +10 more
wiley   +1 more source

Neutropaenia and splenomegaly without arthritis: think rheumatoid arthritis

BMJ Case Reports, 2018
Felty syndrome(FS) is an uncommon, but severe, extra-articular manifestation of rheumatoid arthritis (RA). It occurs in patients with longstanding RA. It is extremely rare for RA to present as FS or develop after initially presenting as neutropaenia and ...
F. Aslam, Rabia S Cheema, M. Feinstein, A. Chang-Miller   +3 more
semanticscholar   +1 more source

Comparative pathogenicity of vaccinia virus and mpox virus infections in CAST/EiJ mice: Exploring splenomegaly and transcriptomic profiles

Animal Models and Experimental Medicine, EarlyView.
We successfully constructed CAST/EiJ mice models infected with low‐dose vaccinia virus (VACV‐L), high‐dose VACV (VACV‐H), and mpox virus (MPXV), demonstrating that VACV‐L and MPXV infections induced splenomegaly in mice, and VACV‐H infection caused mortality in mice.
Yongzhi Hou, Jianrong Ma, Baoying Huang, Na Li, Lin Zhu, Ziqing Jia, Jiasen Yang, Jingjing Zhang, Wenjie Tan, Jing Xue   +9 more
wiley   +1 more source

Autochthonous infection with Ehrlichia Canis and Hepatozoon Canis in dogs from Serbia

Veterinary Medicine and Science, Volume 9, Issue 1, Page 111-118, January 2023., 2023
Dogs are included in the study based on the presence of a minimum of three clinical and/or pathological findings that could be associated with canine ehrlichiosis and hepatozoonosis. The presence of the pathogens was confirmed in three animals (3/11, 27.3%), Ehrlichia canis was confirmed in one dog, as well as Hepatozoon canis, while one dog was co ...
Ratko Sukara, Nenad Andrić, Jelena Francuski Andrić, Darko Mihaljica, Gorana Veinović, Vladan Ranković, Snežana Tomanović   +6 more
wiley   +1 more source

The Induction and Characterization of a Potential Rough‐Type Brucella Vaccine Candidate Strain RA343, and Its Safety, Protective Efficacy in Mouse and Guinea Pig Models

Animal Research and One Health, EarlyView.
Brucellosis is a zoonotic disease caused by Brucella spp. which seriously jeopardize the health and safety of animals and human beings. In this study, a genetically stable Brucella rough RA343 strain was obtained by cross‐induction. The virulence and protective efficacy of RA343 were subsequently assessed. Overall, the RA343 strain is a promising novel
Linjiao Li, Guangzhi Zhang, Minghe Liu, Lang Lv, Xiaowei Peng, Yu Feng, Xiaotong Yang, Jiabo Ding, Chunhai Liu, Jianhua Qin, Peng Li, Hui Jiang, Xuezheng Fan   +12 more
wiley   +1 more source

Natural history of patients with non cirrhotic portal hypertension: Comparison with patients with compensated cirrhosis [PDF]

, 2018
Background. The knowledge of natural history of patients with portal hypertension (PH) not due to cirrhosis is less well known than that of cirrhotic patients. Aim.
Aprile, Francesca, Gioia, Stefania, Merli, Manuela, Nardelli, Silvia, Nicoletti, Valeria, Pasquale, Chiara, Pentassuglio, Ilaria, Riggio, Oliviero   +7 more
core   +1 more source