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Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study.
Am J Case Rep
July 2024
Department of Neurology, Katuri Medical College, Guntur, India.
BACKGROUND Leigh disease (LD) is a rare progressive mitochondrial neurodegenerative disorder characterized by subacute necrotizing encephalopathy and symmetrical spongiform lesions in the brain. Cytochrome C oxidase deficiencies due to SURF1 Cytochrome C Oxidase Assembly Factor (SURF1) gene mutations are seen only in 15% of LD cases. Consideration of these genetic mutations in young patients is crucial for early diagnosis, intervention, and further genetic counseling.
View Article and Find Full Text PDFAtypical plaque psoriasis: a clinicopathological study of 20 cases.
Int J Dermatol
August 2024
The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Article Synopsis
- The study investigates how to differentiate atypical plaque psoriasis from similar skin conditions, especially when typical diagnostic features are absent.
- It analyzes clinical and pathological characteristics from 20 cases of atypical plaque psoriasis and 40 control cases, revealing significant differences in various features like parakeratosis and types of inflammatory cells.
- The findings aim to provide clinicians with better diagnostic tools to accurately identify and treat atypical plaque psoriasis by highlighting distinguishing features from its mimics.
A systemic analysis of Creutzfeldt Jakob disease cases in Asia.
Prion
December 2024
Department of Biomedical Engineering and Sciences, School of Mechanical and Manufacturing Engineering, National University of Sciences and Technology, Islamabad, Pakistan.
Creutzfeldt Jakob Disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder, also known as a subacute spongiform encephalopathy. There are three major subtypes of CJD i.e.
View Article and Find Full Text PDFAn Atypical Presentation of Creutzfeldt-Jakob Disease as a Stroke Mimic: Experience From an Irish Tertiary Center.
Cureus
August 2023
Internal Medicine, Mayo University Hospital, Castlebar, IRL.
Sporadic Creutzfeldt-Jakob Disease (sCJD) is a rare neurodegenerative prion disease that presents with symptoms of rapid neuropsychiatric decline including dementia, behavioural abnormalities, and loss of higher cortical function. Patients commonly present with rapidly progressive neuromotor symptoms such as ataxia and myoclonus. Very few cases of CJD have been reported in which the patient initially presents with stroke symptoms such as hemiparesis as their primary presenting symptom.
View Article and Find Full Text PDFSporadic Creutzfeldt-Jakob Disease With Status Epilepticus: Molecular Mechanisms and a Scoping Review of the Literature.
Cureus
August 2022
Department of Neurology, UMass Chan Medical School, Worcester, USA.
Creutzfeldt-Jakob disease (CJD) is a rapidly progressing neurodegenerative disorder and is a spongiform encephalopathy. A 59-year-old male presented with subacute-onset worsening encephalopathy and was found to be in non-convulsive status epilepticus (NCSE) requiring intubation and a midazolam infusion for refractory seizures. Electroencephalogram (EEG) revealed triphasic repeats with focal epileptogenic originating from the left parietal region.
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