An intimate understanding of dynamic angioarchitectural development of vascular malformations involving the intracranium may provide mechanistic insight into the incipient pathogenesis of these lesions. The authors report two patients harboring cerebral developmental venous anomaly (DVA) and three patients harboring sporadically developing cerebral arteriovenous malformations (AVM) in whom the internal cerebral vein (ICV) represented the chief venous egress route. Onyx embolization successfully achieved complete obliteration in all patients harboring cerebral AVMs. Two female patients presenting with a chief complaint of chronic headaches was found to harbor deeply situated DVA draining via the lateral group of direct lateral vein (DLV) egress via the ICV. Three female patients presenting with chronic headaches or intraparenchymal hemorrhage were found to possess cerebral AVMs deriving arterial feeders from the anterior cerebral arteries, with major venous drainage into the ICV via the direct lateral veins or terminal vein. Common drainage of DVAs and AVMs may indicate a common originate genesis. This pattern of venous drainage in the context of seeking to develop a cohesive and coherent model illumining our understanding of the mechanistic incipient pathogenesis of AVMs.
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http://dx.doi.org/10.4103/0028-3886.359225 | DOI Listing |
Coron Artery Dis
January 2025
Department of Medicine, Lundquist Institute at Harbor-UCLA Medical Center, Los Angeles.
Background: Coronary artery dominance is determined by the coronary artery emitting the posterior descending artery. In the left dominant system, a greater proportion of coronary flow enters the left coronary artery, potentially influencing calcified plaque development in the left anterior descending artery (LAD).
Methods: This retrospective single-center cohort study analyzed patients who underwent computed tomography angiography from September 2006 to December 2022 at Harbor-UCLA in Los Angeles, California.
Mol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
February 2025
Center for Medical Research and Innovation, Shanghai Pudong Hospital, Institutes of Biomedical Sciences, Chinese Academy of Medical Sciences (RU069), Medical College of Fudan University, Shanghai 201399, China.
Ten-eleven translocation (TET) enzymes oxidize 5-methylcytosine (mC) in DNA, contributing to the regulation of gene transcription. Diverse mutations of TET2 are frequently found in various blood cancers, yet the full scope of their functional consequences has been unexplored. Here, we report that a subset of TET2 mutations identified in leukemia patients alter the substrate specificity of TET2 from acting on mC to thymine.
View Article and Find Full Text PDFAnn Hematol
January 2025
Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Traditional Chinese Medicine), Hangzhou, China.
Aplastic anemia (AA) is a life-threatening bone marrow failure syndrome. The advent of next-generation sequencing (NGS) has shed light on the link between somatic mutations (SM) and the efficacy of immunosuppressive therapy (IST) in AA patients. However, the relationship between SM and hematopoietic stem cell transplantation (HSCT) has not been extensively explored.
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