Results 81 to 90 of about 69,989 (234)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Is there a role of viral infection in cystic fibrosis exacerbation in children?

The Turkish Journal of Pediatrics, 2022
Background. Cystic fibrosis (CF) is a degenerative disease distinguished by progressive epithelial secretory gland dysfunction associated with recurrent respiratory tract infections.
Dina H Hamed, Mai Sherif Soliman, Ola Soliman Emam, Mona Mohsen El-Attar   +3 more
doaj   +1 more source

Rhinovirus detection using different PCR-based strategies [PDF]

, 2012
Human rhinoviruses (HRVs) are the major cause of the common cold. HRVs were recently reclassified into the Enterovirus genus (HEV) in the Picornaviridae family.
Bellei, Nancy Cristina Junqueira, Carraro, Emerson, Granato, Celso Francisco Hernandes, Perosa, Ana Helena Sitta, Silva, Ellen Ricci Monteiro da, Watanabe, Aripuanã Sakurada Aranha   +5 more
core   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

The cross-reactivity of the enterovirus 71 to human brain tissue and identification of the cross-reactivity related fragments [PDF]

, 2010
Background EV71 occasionally cause a series of severe neurological symptoms, including aseptic meningitis, encephalitis, and poliomyelitis-like paralysis. However, the neurological destruction mechanism was remained to be clarified.
Chun Jia, Jiang Liu, Wan Li, Chun Ma, Shu Lin, Yi Hao, Xue Gao, Xiao Liu, Yan Xu, Lian Zhang, Chuan Qin   +10 more
core   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

MicroRNA and Pathogenesis of Enterovirus Infection

Viruses, 2016
There are no currently available specific antiviral therapies for non-polio Enterovirus infections. Although several vaccines have entered clinical trials, the efficacy requires further evaluation, particularly for cross-strain protective activity ...
Bing-Ching Ho, Pan-Chyr Yang, Sung-Liang Yu   +2 more
doaj   +1 more source

Differential Detection of Encapsidated versus Unencapsidated Enterovirus RNA in Samples Containing Pancreatic Enzymes—Relevance for Diabetes Studies

Viruses, 2020
Using immunohistochemistry, enterovirus capsid proteins were demonstrated in pancreatic islets of patients with type 1 diabetes. Virus proteins are mainly located in beta cells, supporting the hypothesis that enterovirus infections may contribute to the ...
Maarit Oikarinen, Lori Bertolet, Antonio Toniolo, Sami Oikarinen, Jutta E. Laiho, Alberto Pugliese, Richard E. Lloyd, Heikki Hyöty, the nPOD-V Study Group   +8 more
doaj   +1 more source

Treatability of U.S. Environmental Protection Agency Contaminant Candidate List Viruses: Removal of Coxsackievirus and Echovirus using Enhanced Coagulation [PDF]

, 2008
Enhanced coagulation was evaluated for removal efficacy of coxsackievirus and echovirus (Contaminant Candidate List [CCL] enteroviruses), poliovirus, four potential surrogate bacteriophages, and dissolved organic carbon (DOC).
Abbaszadegan, Morteza, Mayer, Brooke, Ryu, Hodon   +2 more
core   +1 more source

Pharmacokinetics of dolutegravir, tenofovir and lamivudine during venous–venous extracorporeal membrane oxygenation (VV‐ECMO): A case report

British Journal of Clinical Pharmacology, EarlyView.
While providing potentially life‐saving cardiorespiratory support for critically ill patients, extracorporeal membrane oxygenation (ECMO) may detrimentally affect pharmacokinetic (PK) performance and concurrent drug efficacy and safety. We describe a patient with Pneumocystis jirovecii pneumonia (PJP) in the context of acquired immunodeficiency ...
Tom C. Zwart, Emiel Leegwater, Thomas H. Ottens, Emile F. Schippers, Erik B. Wilms, David M. Burger, Cees van Nieuwkoop, Liesbeth B. E. Bosma   +7 more
wiley   +1 more source