Results 61 to 70 of about 17,036 (221)

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

Epidemiology of childhood enterovirus infections in Hangzhou, China, 2019–2023

Virology Journal
Human enteroviruses are highly prevalent world-wide. Up to more than 100 subtypes of enteroviruses can cause several diseases, including encephalitis, meningitis, myocarditis, hand-foot-mouth disease, conjunctivitis, respiratory diseases, and ...
Jian Sun, Yajun Guo, Lin Li, Yaling Li, Hangyu Zhou, We Li   +5 more
doaj   +1 more source

Remdesivir (GS-5734) Impedes Enterovirus Replication Through Viral RNA Synthesis Inhibition

Frontiers in Microbiology, 2020
Human enteroviruses are responsible for diverse diseases, from mild respiratory symptoms to fatal neurological complications. Currently, no registered antivirals have been approved for clinical therapy.
Wei Ye, Min Yao, Yangchao Dong, Chuantao Ye, Dan Wang, He Liu, Hongwei Ma, Hui Zhang, Libin Qi, Yuewu Yang, Yuan Wang, Liang Zhang, Linfeng Cheng, Xin Lv, Zhikai Xu, Yingfeng Lei, Fanglin Zhang   +16 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

HUMAN ENTEROVIRUSES AND WILDLIFE: ISOLATION FROM GRAY SQUIRRELS [PDF]

Journal of Wildlife Diseases, 1980
Five isolates of human echovirus 1/8 complex were recovered from the feces of free-ranging gray squirrels. The source of infection and the significance of the isolates remain unknown.
G L, Hoff, W J, Bigler, F M, Wellings, A L, Lewis   +3 more
openaire   +2 more sources

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

Etiology and prognosis of acute viral encephalitis and meningitis in Chinese children: a multicentre prospective study

BMC Infectious Diseases, 2017
Background In China, there were few studies about the pathogens of acute viral encephalitis and meningitis in children in recent years. The aims of this study were to characterize the etiology and prognosis of acute viral encephalitis and meningitis in ...
Junhong Ai, Zhengde Xie, Gang Liu, Zongbo Chen, Yong Yang, Yuning Li, Jing Chen, Guo Zheng, Kunling Shen   +8 more
doaj   +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

Meta-analysis of the association of enteroviruses with human heart disease [PDF]

Heart, 1997
The role of viruses in the genesis of both dilated cardiomyopathy (DCM) and acute myocarditis remains uncertain. Modern molecular techniques such as polymerase chain reaction (PCR) and in situ hybridisation are sensitive means of detecting viral genomic material in human myocardial tissue and may help to resolve the quest.
C, Baboonian, T, Treasure
openaire   +2 more sources

Recombination among human non-polio enteroviruses: implications for epidemiology and evolution

, 2015
Human enteroviruses (EV) belong to the Picornaviridae family and are among the most common viruses infecting humans. They consist of up to 100 immunologically and genetically distinct types: polioviruses, coxsackieviruses A and B, echoviruses, and the ...
Markoulatos, P., Amoutzias, G. D., Kyriakopoulou, Z., Pliaka, V.   +3 more
core   +1 more source