Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation of byproducts in the pathway. Select porphyrias also affect the nervous system, namely hereditary coproporphyria, acute intermittent porphyria and variegate porphyria. Complications include paralysis, hyponatremia which can risk central pontine myelinolysis, seizures and coma. Neurological complications usually result from severe episodes of acute attacks. Acute attacks may also elicit neuropsychiatric symptoms such as confusion, hallucinations, anxiety and psychosis. However, these manifestations are generally self-limiting. Due to the generally low incidence of porphyria and full knowledge the associated neurological and psychiatric manifestations, we review the relevant porphyrias along with their clinical manifestations, evaluation, and management to raise its awareness in the clinical picture and to prevent misdiagnosis. Porphyria should be considered within the differential diagnosis for unexplained neurological symptoms.
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http://dx.doi.org/10.1080/00207454.2019.1655014 | DOI Listing |
Orphanet J Rare Dis
January 2025
Ionis Pharmaceuticals, Inc, 2855 Gazelle Court, Carlsbad, CA, 92010, USA.
Background: Hereditary angioedema (HAE) is a rare, autosomal dominant disorder causing swelling attacks in various parts of the body, resulting in impacts on health-related quality of life (HRQoL). The symptoms of HAE and its impacts on HRQoL have been well-documented in adults; however, relatively little is known about the experiences of adolescents with HAE. The objective of this study was to use qualitative interviews to investigate how adolescents experience HAE symptoms and how HAE impacts their HRQoL.
View Article and Find Full Text PDFAJNR Am J Neuroradiol
January 2025
From the Department of Radiology (A.T.T., D.Z., D.K., S. Payabvash) and Neurology (S. Park), NewYork-Presbyterian/Columbia University Irving Medical Center, Columbia University, New York, NY; Department of Radiology and Biomedical Imaging (G.A., A.M.) and Neurology (G.J.F., K.N.S.), Yale School of Medicine, New Haven, CT; Zeenat Qureshi Stroke Institute and Department of Neurology (A.I.Q.), University of Missouri, Columbia, MO; Department of Neurosurgery (S.M.), Icahn School of Medicine at Mount Sinai, Mount Sinai Hospital, New York, NY; and Department of Neurology (S.B.M.), Weill Cornell Medical College, Cornell University, New York, NY.
Background And Purpose: Robustness against input data perturbations is essential for deploying deep-learning models in clinical practice. Adversarial attacks involve subtle, voxel-level manipulations of scans to increase deep-learning models' prediction errors. Testing deep-learning model performance on examples of adversarial images provides a measure of robustness, and including adversarial images in the training set can improve the model's robustness.
View Article and Find Full Text PDFRadiologie (Heidelb)
January 2025
Klinik für diagnostische und interventionelle Neuroradiologie, Universitätskliniken des Saarlandes, Kirrberger Str., 66421, Homburg Saar, Deutschland.
Performance: Spontaneous dissections of the cerebral arteries are among the leading causes of stroke in young adults. They result from hemorrhage into the outer layers of the arterial wall, which can lead to stenosis or even complete vessel occlusion. Clinical presentations vary, ranging from localized pain to cerebral ischemic complications.
View Article and Find Full Text PDFJ Virol
January 2025
University of Central Florida, College of Medicine, Orlando, Florida, USA.
Unlabelled: Persistent viral infections can be an important medical problem, with persistently infected (PI) cells extending viral shedding, maintaining inflammation, and providing potential sources for new viral variants. Given that PI cells can acquire resistance to some innate immune pathways, we tested the hypothesis that complement (C')-mediated lysis of parainfluenza virus 5 (PIV5)-infected cells would differ between acute-infected and PI cells. Biochemical and real-time cell viability assays showed effective C'-mediated lysis of A549 lung cells acutely infected with PIV5, through pathways that depended on C3 and C5, but largely independent of C6.
View Article and Find Full Text PDFJ Am Heart Assoc
January 2025
Center for Stroke Research Berlin Charité-Universitätsmedizin Berlin Berlin Germany.
Background: Excessive supraventricular ectopic activity (ESVEA) is regarded as a risk marker for later atrial fibrillation (AF) detection.
Methods And Results: The investigator-initiated, prospective, open, multicenter MonDAFIS (Impact of Standardized Monitoring for Detection of Atrial Fibrillation in Ischemic Stroke) study randomized 3465 patients with acute ischemic stroke without known AF 1:1 to usual diagnostic procedures for AF detection or additive Holter monitoring in hospital for up to 7 days, analyzed in a core laboratory. Secondary study objectives include the comparison of recurrent stroke, myocardial infarction, major bleeding, and all-cause death within 24 months in patients with ESVEA (defined as ectopic supraventricular beats ≥480/day or atrial runs of 10-29 seconds or both) versus patients with newly diagnosed AF versus patients without ESVEA or AF (non-ESVEA/AF), randomized to the intervention group.
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