Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.nrleng.2021.12.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy.
J Clin Immunol
December 2024
Division of Rheumatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age 35-55, leading to premature death in 100% of patients expressing an autosomal dominant C-terminally truncated form of TREX1. We previously demonstrated that RVCL is characterized by high levels of DNA damage, premature cellular senescence, and risk of early-onset breast cancer before age 45.
View Article and Find Full Text PDFChild Neurology: Acute Necrotizing Encephalopathy of Childhood Associated With Dengue: Good Neurologic Outcome Despite a Fulminant Presentation.
Neurology
November 2024
From the Departments of Pediatrics (J.G., R.C., P.S., R.N.S., K.D.), and Radio-Diagnosis (A.G.), SMS Medical College; and SK Babylon's Newton Institute of Child and Adolescent Development (S.S.), Jaipur, India.
Article Synopsis
- Acute necrotizing encephalopathy of childhood (ANEC) can occur after a viral fever, with dengue fever being a rare trigger, leading to severe brain damage and requiring intensive care.
- A study on 5 children with ANEC linked to dengue fever revealed they had rapid deterioration and significant hospital stays, with 4 needing mechanical ventilation.
- Despite severe initial symptoms, with treatment including IV methylprednisolone and immunoglobulin, the children showed significant recovery, achieving independence in daily activities within 6 months, though some had residual neurological issues like tremors.
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) Initially Presenting as Septic Meningoencephalitis in a 16-Year-Old Male.
Eur J Case Rep Intern Med
June 2024
Department of Acute Medicine, Watford General Hospital, Watford, UK.
Background: We describe a case of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in a 16-year-old patient who initially presented with clinical features of septic meningoencephalitis. This case outlines the importance of considering a diagnosis of MOGAD in patients who fail to improve with appropriate antimicrobial therapy or show a positive clinical response to glucocorticoids (often used in treatment of meningococcal meningitis). We emphasise the importance of recognising that an infectious prodrome can precede MOGAD.
View Article and Find Full Text PDFCatastrophic tumefactive acute disseminated encephalomyelitis in patient with dengue virus: a case report.
J Neurovirol
April 2024
Division of Neurology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok, 10700, Thailand.
Tumefactive demyelinating lesions (TDL) are a rare occurrence among inflammatory demyelinating diseases of the central nervous system, distinguished by tumor-like lesions exceeding 2 cm in diameter. While various etiologies have been associated with TDL, only a limited number of case reports document the coexistence of acute disseminated encephalomyelitis (ADEM) and TDL. Here, we present the case of a female diagnosed with dengue fever two weeks prior, who subsequently developed left hemiparesis and encephalopathy.
View Article and Find Full Text PDFExtensive Longitudinal Transverse Myelitis in Systemic Lupus Erythematosus: Presentation of a Case and Literature Review.
Cureus
July 2023
Internal Medicine, University of Cartagena, Cartagena, COL.
Acute transverse myelitis (TM) is an inflammatory disease that manifests with motor, sensory, and autonomic symptoms of rapid progression with catastrophic outcomes; the three main causes of acute TM are demyelinating diseases, infections, and autoimmune inflammatory diseases such as systemic lupus erythematosus (SLE). TM is one of the 19 neuropsychiatric diseases associated with SLE according to the American College of Rheumatology (ACR) and has been described as affecting 1 to 2% of all cases of SLE and is frequently misdiagnosed, leading to a high rate of morbidity and mortality. This report highlights the case of a 25-year-old woman with a history of SLE who consulted for a progressive decrease in lower limb strength and loss of sphincter control, accompanied by dysesthesias from the abdomen to the feet.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!