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Fatal familial insomnia: A new case description with response to thoracic sympathetic nerve thermocoagulation and stellate ganglion block.
Sleep Med
December 2024
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, Henan Province, China. Electronic address:
Fatal familial insomnia (FFI) is a rare autosomal dominant neurodegenerative disorder characterized by rapidly progressive dementia, severe sleep disturbances, and autonomic dysfunction. The clinical manifestations of FFI can exhibit substantial variations, making it crucial to rule out other conditions, such as autoimmune encephalitis and Creutzfeldt-Jakob disease, during early diagnosis. In this study, we describe the case of a 58-year-old man who experienced persistent insomnia, autonomic symptoms, gait instability, and rapidly progressive dementia.
View Article and Find Full Text PDF[Difficulties in lifetime diagnosis of Creutzfeldt-Jakob disease].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Siberian State Medical University, Tomsk, Russia.
Creutzfeldt-Jakob disease (CJD) is a classic representative of the group of prion diseases and is characterized by progressive degeneration of the structures of the nervous system with a variety of neurological symptoms, steady progression and inevitable death. The disease is based on a change in the tertiary structure of the protein, which leads to disruption of the normal functioning of cells. Despite the fact that the etiology and pathogenesis of CJD are now well studied, intravital diagnosis of this serious disease remains difficult due to the peculiarities of the pathological process (unusually long incubation period, variety of clinical symptoms), the lack of pathognomonic markers that make it possible to make a diagnosis with a high degree of confidence, and also insufficient awareness of medical workers.
View Article and Find Full Text PDFCreutzfeldt-Jakob disease: a single institution case series.
Int J Palliat Nurs
December 2024
Registered nurse, Echuca Regional Health, Victoria.
Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition. This report presents the largest published case series on the condition. The palliative care symptom burden and management of these patients is considered.
View Article and Find Full Text PDFInterpretable deep learning survival predictions in sporadic Creutzfeldt-Jakob disease.
J Neurol
December 2024
The UK National CJD Research and Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh, EH16 4TG, UK.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive and fatal prion disease with significant public health implications. Survival is heterogenous, posing challenges for prognostication and care planning. We developed a survival model using diagnostic data from comprehensive UK sCJD surveillance.
View Article and Find Full Text PDFAssociation of Glymphatic Function With Clinical Characteristics in Patients With Clinical and Asymptomatic Creutzfeldt-Jakob Disease.
Neurology
January 2025
From the Department of Neurology (Z.C., D.J., Y.K., J.Z., C.M., H.Y., J. Li, L. Wang, L. Wu), and Department of Radiology and Nuclear Medicine (S.B., S.Y., J. Lu), Xuanwu Hospital, Capital Medical University, Beijing, China.
Background And Objectives: Abnormal glymphatic system-related proteins have been identified in a small-scale pathologic study of patients with Creutzfeldt-Jakob disease (CJD). However, it remains unclear whether glymphatic dysfunction occurs in vivo in patients with CJD and whether this decline begins during the preclinical stage. This study aimed to investigate the relationship between glymphatic dysfunction and clinical characteristics in patients with CJD, as well as potential glymphatic impairment in preclinical CJD.
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