Results 131 to 140 of about 213,227 (296)

Clinical and Laboratory Characterization of Acquired Von Willebrand Syndrome

American Journal of Hematology, EarlyView.
ABSTRACT Acquired von Willebrand Syndrome (AVWS) is a rare bleeding disorder characterized by quantitative or qualitative defects of von Willebrand factor (VWF) in patients without a personal or family history of bleeding. It is frequently associated with systemic diseases, particularly lymphoproliferative disorders (LPDs) and myeloproliferative ...
Alessandro Ciavarella, Luciano Baronciani, Omid Seidizadeh, Paola Colpani, Elio Ingenito, Daniele Cattaneo, Maria Teresa Pagliari, Addolorata Truma, Alessandra Iurlo, Simona Maria Siboni, Flora Peyvandi   +10 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Analysis of risk factors for new⁃onset ischemic stroke after Sun's procedure in patients with acute type A aortic dissection

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To investigate the risk factors of new⁃onset ischemic stroke in patients with acute type A aortic dissection (ATAAD) undergoing Sun's procedure.
ZHANG Chen⁃yu, ZHANG Shao⁃peng, LI Pei⁃quan, BAI Yun⁃peng, CHEN Tong⁃yun, CHEN Qing⁃liang   +5 more
doaj   +1 more source

8th International Meeting on Aortic Diseases. [PDF]

Aorta (Stamford), 2023
Elefteriades JA, Ziganshin BA.
europepmc   +1 more source

Anesthetic Management of Endovascular Stent Graft Placement for Thoracic Aortic Diseases [PDF]

, 2005
Endovascular aortic repair is a new alternative to conventional surgical repair of aortic pathology. It is a less invasive technique and gives less hemodynamic stress to the patients who may have concomitant systemic diseases, compared with open aortic ...
권태동
core  

Three-year results from the surgical treatment of diseases of the aortic valve and aortic root

, 2013
PURPOSE: Pathology of the aortic root and aortic valve is subjected to adult cardiac surgery and includes Stanford A aortic dissection, annuloaortic ectasia or chronic aneurysm of the ascending aorta.
Panayotov, Plamen; Medical University of Varna, Peychev, Yavor; Medical University of Varna, Bachvarov, Georgi; Medical University of Varna, Panayotova, Daniela; Medical University of Varna, Kornovski, Vladimir; Medical University of Varna, Slavov, Milen; Medical University of Varna   +5 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Estimating flow division in aortic branches of diseased aorta: a method for boundary condition specification in CFD analysis

Frontiers in Bioengineering and Biotechnology
Hemodynamic predictions using computational fluid dynamics (CFD) simulations can provide valuable guidance assessing aortic disease risks. However, their reliability is hindered by the lack of patient-specific boundary conditions, particularly measured ...
Mengqiang Hu, Mengqiang Hu, Mengqiang Hu, Ming Yang, Ming Yang, Zhihao Ding, Zhihao Ding, Shu Chen, Xiaoyu Qi, Chuanzhi Zhu, Chuanzhi Zhu, Yining Zhang, Chao Yang, Yuanming Luo   +13 more
doaj   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source