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Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFA 36-year-old woman with ulcerative colitis presented with progressive chest pain and neurovegetative symptoms. The electrocardiogram showed ST segment elevation in the inferior wall. The patient had a previous history of fatigue and night sweats.
View Article and Find Full Text PDFMiddle aortic syndrome in childhood-onset Takayasu arteritis.
J Vasc Surg Cases Innov Tech
February 2025
Department of Vascular Surgery, National Institute of Cardiology Ignacio Chávez, Mexico City, Mexico.
Long-term Patency and Complications of Endovascular and Surgical Revascularization for Takayasu Arteritis.
Vasc Specialist Int
December 2024
Division of Vascular Surgery, Department of Surgery, Seoul National University College of Medicine, Seoul, Korea.
Purpose: Takayasu arteritis (TAK) is a rare form of chronic vasculitis that is common in Asian female. As TAK predominantly affects young female with a longer life expectancy than those with atherosclerotic diseases, assessing the specific long-term outcomes of TAK treatment is important. Therefore, this study aimed to evaluate the long-term outcomes and post-procedural complications of surgical and endovascular treatment for TAK.
View Article and Find Full Text PDFReoperation for chronological complete dislodgement of the bioprosthetic aortic valve into the left ventricle due to Takayasu arteritis.
Gen Thorac Cardiovasc Surg Cases
December 2024
Department of Cardiovascular Surgery, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.
Background: Takayasu arteritis is a large-vessel vasculitis, in addition to giant cell arteritis. Various post-operative complications associated with the cardiac macrovasculature have been reported. Detachment of the prosthetic valve, pseudoaneurysm formation, and dilatation of the aortic root are well-known post-operative complications associated with vasculitis syndromes, including Takayasu arteritis.
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