Results 81 to 90 of about 190,694 (266)

Aortic replacement in cardiac surgery

Cleveland Clinic Journal of Medicine, 2017
The number of aorta procedures performed annually in the United States has grown substantially during the past decade. Cleveland Clinic is a leader in research on the risk of aortic dissection in patients with a bicuspid or tricuspid aortic valve and associated aneurysm, which has led to changes in the recommendations of when to operate.
openaire   +2 more sources

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

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

“Loss of landing zone”—Stabilizing endovascular treatment solutions in the aortic arch after thoracic endovascular aortic repair

Journal of Vascular Surgery Cases and Innovative Techniques
Addressing proximal complications that arise after endovascular aortic repair for type B aortic dissection, such as type Ia endoleaks, “bird-beaking” of the thoracic endovascular aortic repair (TEVAR) stent, retrograde type A dissection, and ...
Caroline Radner, MD, Maximilian A. Pichlmaier, MD, Jan Stana, MD, PhD, Joscha Buech, MD, Christian Hagl, MD, Nikolaos Tsilimparis, MD, Sven Peterss, MD   +6 more
doaj   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Safety and effectiveness of the sutureless integrated stented graft prosthesis in an animal model

Heliyon
Background: Prolonged circulatory arrest time is an independent risk factor for postoperative adverse events of type A aortic dissection (TAAD) surgery. Further reduction of the circulatory arrest time is essential to improve surgical outcomes.
Lu Dai, Chenyu Zhou, Liang Zhang, Juntao Qiu, Shen Liu, Jiawei Qiu, Rui Zhao, Enzehua Xie, Jian Song, Cuntao Yu   +9 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Acute abdominal aortic occlusion associated with transient paraplegia

Journal of Vascular Surgery Cases and Innovative Techniques
We describe a rare case of acute occlusion of the abdominal aorta presenting as a rapidly evolving flaccid paraplegia owing to spinal cord ischemia and our management protocol that allowed complete recovery of the patient.
Florent Porez, MD, Antoine Gaudin, MD, Dominique Fabre, MD, PhD, Alessandro Costanzo, MD, Lucas Le Guillou, MD, Stéphan Haulon, MD, PhD   +5 more
doaj   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source