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[Advances in the genetics of venous thromboembolic disease].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Institute of Hematology, Tongji Medical College Affiliated Union Hospital, Huazhong University of Science and Technology, Wuhan 430022, China.
Venous thromboembolism (VTE) is clinically manifested as deep vein thrombosis (DVT) and pulmonary embolism (PE). VTE is the third most prevalent vascular disease after coronary artery and cerebrovascular diseases. VTE is a multifactorial disease caused by the interaction of genetic and acquired risk factors.
View Article and Find Full Text PDF[Pedigree analysis of novel missense mutations causing hereditary coagulation factor Ⅴ deficiency].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
View Article and Find Full Text PDFNeuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors.
Neurobiol Dis
January 2025
The University of Texas Southwestern Medical Center, Department of Neurology, Dallas, TX, United States of America; The University of Texas Southwestern Medical Center, Department of Psychiatry, Dallas, TX, United States of America; The University of Texas Southwestern Medical Center, Department of Pediatrics, Dallas, TX, United States of America; The University of Texas Southwestern Medical Center, Department of Neuroscience, Dallas, TX, United States of America. Electronic address:
Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), is implicated in both genetic familial epilepsies and NDDs (Baldassari et al., 2018). Previous studies have found seizure phenotypes and increased activity resulting from conditional deletion of GATOR1 function from forebrain excitatory neurons (Yuskaitis et al.
View Article and Find Full Text PDFA taxonomy of the factors contributing to the overtreatment of cancer patients at the end of life. What is the problem? Why does it happen? How can it be addressed?
ESMO Open
January 2025
Office of Quality and Value, The University of Texas MD Anderson Cancer Center, Houston, USA.
Many patients with cancer approaching the end of life (EOL) continue to receive treatments that are unlikely to provide meaningful clinical benefit, potentially causing more harm than good. This is called overtreatment at the EOL. Overtreatment harms patients by causing side-effects, increasing health care costs, delaying important discussions about and preparation for EOL care, and occasionally accelerating death.
View Article and Find Full Text PDFFatal familial insomnia: A new case description with response to thoracic sympathetic nerve thermocoagulation and stellate ganglion block.
Sleep Med
December 2024
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, Henan Province, China. Electronic address:
Fatal familial insomnia (FFI) is a rare autosomal dominant neurodegenerative disorder characterized by rapidly progressive dementia, severe sleep disturbances, and autonomic dysfunction. The clinical manifestations of FFI can exhibit substantial variations, making it crucial to rule out other conditions, such as autoimmune encephalitis and Creutzfeldt-Jakob disease, during early diagnosis. In this study, we describe the case of a 58-year-old man who experienced persistent insomnia, autonomic symptoms, gait instability, and rapidly progressive dementia.
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