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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.
J Med Case Rep
January 2025
Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.
Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.
View Article and Find Full Text PDFChronic calcified subdural hematoma masquerading as hemorrhagic extra-axial mass: A case report and brief review of the literature.
Radiol Case Rep
March 2025
Department of Neuroradiology, Rockefeller Neuroscience Institute, West Virginia University, Morgantown, WV, USA.
Calcified chronic subdural hematoma (CCSDH) is a rare condition characterized by the accumulation of calcified blood between the dura mater and arachnoid membrane, typically following remote trauma. These lesions often present as space-occupying, extra-axial masses over the cerebral convexity and can mimic extra-axial tumors, such as calcified meningiomas. A 73-year-old male with a history of prostate cancer, hypertension, and hyperlipidemia presented with vision changes and mild papilledema.
View Article and Find Full Text PDFPosterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.
Cureus
December 2024
Department of Neurology, 417 Army Share Fund Hospital, Athens, GRC.
Posterior reversible encephalopathy syndrome (PRES) is a clinical manifestation of various underlying causes, characterized by the combination of clinical and imaging findings associated with the posterior cerebral areas and relating to arterial hypertension and endothelial dysfunction. No association was made so far between PRES and McCune-Albright syndrome (MAS), a rare genetic disorder resulting in fibrous dysplasia. A 33-year-old female with MAS was presented to the emergency department of the 417 Army Share Fund Hospital in Athens (Greece) after seizure activity with two episodes of ocular upward deviation and transient facial palsy, each lasting a few minutes, followed by a postictal phase.
View Article and Find Full Text PDFSafety and efficacy of intravenous thrombolysis: a systematic review and meta-analysis of 93,057 minor stroke patients.
BMC Neurol
January 2025
Department of Neurology, RWTH Aachen University, Pauwels Street 30, Aachen, 52074, Germany.
Background: The definition of minor ischemic stroke (MIS) is a topic of debate, however, the most accepted definition is a stroke with National Institutes of Health Stroke Scale (NIHSS) ≤ 5. Intravenous thrombolysis (IVT) is a crucial treatment option for acute ischemic stroke (AIS) including: alteplase, recombinant human tissue-type plasminogen activator (r-tPA), and the recently approved tenecteplase. However, there is a debate regarding its safety and efficacy.
View Article and Find Full Text PDFHealth Shock Effects on Diet: More Severe Shock-Stronger Response?
Health Econ
January 2025
Department of Food and Resource Economics, University of Copenhagen, Copenhagen, Denmark.
We investigate whether the severity of lifestyle-related health shocks affects the response in dietary patterns. Using data from official patient registers in Denmark, we analyze the effects from strong health shock (SHS) occurrences (cardiovascular disease) and mild health shock (MHS) occurrences (arterial hypertension and hypercholesterolemia). These data are combined with scanner data on food purchases obtained from a consumer panel.
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