Results 51 to 60 of about 45,941 (218)

Retrospective Genotyping of Enteroviruses Using a Diagnostic Nanopore Sequencing Workflow

Pathogens
Enteroviruses are among the most common viruses pathogenic to humans. They are associated with various forms of disease, ranging from mild respiratory illness to severe neurological diseases.
Vanessa van Ackeren, Stefan Schmutz, Ian Pichler, Gabriela Ziltener, Maryam Zaheri, Verena Kufner, Michael Huber   +6 more
doaj   +1 more source

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

Molecular Characterization and Clinical Description of Non-Polio Enteroviruses Detected in Stool Samples from HIV-Positive and HIV-Negative Adults in Ghana

Viruses, 2020
In the post-polio eradication era, increasing attention is given to non-polio enteroviruses. Most of the data about enteroviruses in sub-Saharan Africa are related to acute flaccid paralysis surveillance and target the pediatric population.
Veronica Di Cristanziano, Kristina Weimer, Sindy Böttcher, Fred Stephen Sarfo, Albert Dompreh, Lucio-Garcia Cesar, Elena Knops, Eva Heger, Maike Wirtz, Rolf Kaiser, Betty Norman, Richard Odame Phillips, Torsten Feldt, Kirsten Alexandra Eberhardt   +13 more
doaj   +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

Enterovirus infections in hospitals of Ile de France region over 2013.

, 2015
International audienceThe monitoring and genotyping of Enterovirus (EV) infections can help to associate particular or severe clinical manifestations with specific EV types and to identify the aetiology of infectious outbreaks.
Molet, Lucie, Saloum, Kenda, Peigue-Lafeuille, Hélène, Henquell, Cécile, Garbarg-Chenon, Antoine, Rozenberg, Flore, Mirand, Audrey, Marque-Juillet, Stéphanie, Schuffenecker, Isabelle   +8 more
core   +1 more source

LABORATORY DIAGNOSIS AND MANAGEMENT OF ENTEROVIRUS OUTBREAKS

International Journal of Infectious Diseases, 2023
Human enterovirus species A to D and rhinovirus species A to C infect humans, and over 250 serotypes have been reported. Enteroviruses caused a wide range of infections including mild common cold, herpangina and hand, foot and mouth disease (HFMD ...
Yoke-Fun Chan
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Development of RT-qPCR for quantification of human enterovirus D68 in vitro

MethodsX, 2023
The common cold is the most frequent viral infectious disease of the upper respiratory tract with different intensities based on the serotype and the characteristics of the virus. Numerous human rhinoviruses have been identified and classified.
Hanne Lillerovde Ørstenvik, Ann-Kristin Tveten, Yanran Cao   +2 more
doaj   +1 more source

Enterovirus and enterovirus infections.

Annals of the Academy of Medicine, Singapore, 1988
An account of the nature of enterovirus and enterovirus infections with special reference to experiences encountered in Singapore is presented. The most common of enterovirus epidemic diseases since 1970 is Acute Haemorrhagic Conjunctivitis caused by Coxsackievirus A24 variant and Enterovirus type 70. Enterovirus of various serotypes were isolated from
M, Yin-Murphy, M C, Phoon, B, Ishak
openaire   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source