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A Rare Case of Sigmoid-Urachal Fistula in an Adult Male Resected Laparoscopically.
Asian J Endosc Surg
January 2025
Department of Surgery, Nishichita General Hospital, Tokai, Aichi, Japan.
Fistulization involving both the sigmoid colon and urachus is exceedingly rare. While previous cases have often necessitated laparotomy due to the involvement of multiple organs, only one instance of successful laparoscopic surgery has been reported. Here, we present the second documented case of laparoscopic resection of a sigmoid-urachal fistula.
View Article and Find Full Text PDFEpilepsy Stands Nearby: A Pilot CT Perfusion Study on Post-Stroke Non-Convulsive Status Epilepticus.
Eur J Neurol
February 2025
IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Neurology and Stroke Center, Maggiore Hospital, Bologna, Italy.
Background: To investigate the relevance of hyperperfusion on computerised perfusion imaging (CTP) in the emergency setting in people with non-convulsive status epilepticus (NCSE) and previous stroke, to derive relevant aspects on the epileptogenic focus and the network recruited for NCSE propagation.
Methods: We enrolled consecutive adult patients with acute-onset NCSE and a previous stroke at a single institution undergoing CTP and EEG during symptoms. All patients underwent standard imaging including CT, CTP, CT angiograms and standard EEG within 30 min from hospital arrival.
Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFIncidence and Risk Factors for Varicella-Zoster Virus-Associated Central Nervous System Infections: A Nationwide Swedish Retrospective Case-Control Study.
J Med Virol
February 2025
Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
The determinants of varicella-zoster virus (VZV)-associated central nervous system (CNS) infection have not been fully elucidated. This study aimed to investigate the incidence and risk factors, including immunosuppression, for different manifestations of VZV-associated CNS infection. Patient registers were used to include adults diagnosed with VZV-associated CNS infections between 2010 and 2019 in Sweden.
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