Results 51 to 60 of about 108,615 (251)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Systemic Epstein-Barr-virus-positive T cell lymphoproliferative childhood disease in a 22-year-old Caucasian man: A case report and review of the literature

open access: yesJournal of Medical Case Reports, 2011
Introduction Systemic Epstein-Barr-virus-positive T cell lymphoproliferative disease of childhood is an extremely rare disorder, characterized by clonal proliferation of Epstein-Barr-virus-infected T cells with an activated cytotoxic phenotype.
Meloni Giovanna   +11 more
doaj   +1 more source

The Diagnosis of Epstein-Barr Virus-Associated Polymorphic B Cell Lymphoma in Immunocompromised Patients: Review of Methods

open access: yesCanadian Journal of Infectious Diseases, 1991
Polymorphic B cell lymphoma and diffuse B cell lymphoproliferation associated with Epstein-Barr virus infection is increasingly reported in immunodeficient patients.
Pierre Beauparlant   +2 more
doaj   +1 more source

Оptimization of Treatment EBV Infectious Mononucleosis in Children

open access: yesДетские инфекции (Москва), 2015
The paper presents the results of observation of 103 children aged from 10 months to 15 years with EBV-associated infectious mononucleosis (IM), determined in 32% by acute primary Epstein-Barr virus infection (AEBVI) and in 68% of cases by reactivation ...
V. B. Kotlova   +2 more
doaj   +1 more source

The T‐Cell Response Mechanism in Human Papillomavirus‐Associated Cervical Cancer and New Strategies for Immunotherapy

open access: yesiNew Medicine, EarlyView.
ABSTRACT Human papillomavirus (HPV) is a double‐stranded DNA virus that infects human skin and mucosal tissues exclusively. The German scientist Harald zur Hausen was awarded the 2008 Nobel Prize in Physiology or Medicine for his discovery of the link between HPV infection and cervical cancer.
Fang Zhu   +5 more
wiley   +1 more source

Guillain-Barre syndrome presenting with sensory disturbance following a herpes virus infection: a case report

open access: yesJournal of Medical Case Reports, 2011
Introduction We present a case of an unusual clinical manifestation of Guillain-Barre syndrome following a pre-existing herpes virus infection. Although there have been several reports describing the co-existence of herpes virus infection and Guillain ...
Ntziora Fotinie   +4 more
doaj   +1 more source

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

open access: yesJPGN Reports, EarlyView.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan   +2 more
wiley   +1 more source

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

open access: yesJPGN Reports, EarlyView.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja   +6 more
wiley   +1 more source

Author Correction: Epidemiological risk factors associated with primary infection by Epstein–Barr virus in HIV-1-positive subjects in the Brazilian Amazon region

open access: yesScientific Reports, 2022
Leonn Mendes Soares Pereira   +11 more
doaj   +1 more source

Predicting Different Recurrence Risk in HNSCC Using Circulating Inflammatory and T‐Cell Biomarkers

open access: yesThe Laryngoscope, EarlyView.
ABSTRACT Objective Head and neck squamous cell carcinoma (HNSCC) lacks reliable prognostic circulating biomarkers, and the role of the immune system in its progression remains incompletely understood. This study aimed to evaluate the prognostic value of systemic inflammatory and immune biomarkers in surgically treated patients with primary oral cavity (
Riccardo Gili   +10 more
wiley   +1 more source

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