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Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models.
Circ Genom Precis Med
January 2025
Centre for Heart Lung Innovation, University of British Columbia, Vancouver. (K.H., M.A., L.R., Y.L., A.S., H.H., L.R.B., Z.W.L.).
Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.
Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.
First-line combination therapy of immunotherapy plus anti-angiogenic drug for thoracic SMARCA4-deficient undifferentiated tumors in AIDS: a case report and review of the literature.
Front Immunol
January 2025
Department of Respiratory Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Background: Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) exhibit a notably aggressive phenotype, which is associated with poor patient survival outcomes. These tumors are generally resistant to conventional cytotoxic chemotherapy, thereby limiting the availability of effective treatment options.
Case Presentation: We describe a 69-year-old AIDS patient who initially presented with a fused, enlarged lymph node on the right clavicle and mild, unexplained pain under the right axilla that worsened with severe coughing episodes.
Addressing the Medicolegal Aspects of Temporal Lobe Epilepsy: A Literature Review.
Cureus
December 2024
Department of Clinical and Forensic Neuroscience, University of Veracruz, Boca del Río, MEX.
Temporal lobe epilepsy (TLE) represents a prevalent form of focal epilepsy that often requires surgical intervention and can be resistant to antiseizure medications. Its epidemiology varies across regions due to diagnostic challenges and underestimation of individual neurological traits. Despite these complexities, TLE accounts for a significant proportion of total epilepsies worldwide.
View Article and Find Full Text PDFTERT 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 PDFDNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.
Ital J Pediatr
January 2025
Child Healthcare Department, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, Jiangsu, 210008, China.
Background: This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Methods: A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing.
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