Results 21 to 30 of about 1,048,768 (410)

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Hybrid Thoracic Aortic Repair and Aortic Valve-In-Valve Replacement for Chronic Type A Dissection

The Thoracic & Cardiovascular Surgeon Reports, 2023
We describe a case of hybrid total thoracic aortic repair and valve-in-valve transcatheter aortic valve replacement in a high-risk patient with complicated chronic type A dissection and severe prosthetic aortic stenosis.
Turki B. Albacker, Faisal K. Alghamdi, Ayman Alsaleh, Talal Aljabary, Ali Alshahrani, Majid Alhomiedan, Fathi Zahran, Yasser Abdulrahman, Ahmed Eldemerdash, Bakir M. Bakir   +9 more
doaj   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Successful concomitant minimally invasive surgery for aortic valve stenosis and right lung cancer via right mini-thoracotomy : A case report

Journal of Cardiothoracic Surgery, 2022
Background The case of aortic valve stenosis complicated with lung cancer have compelled cardiovascular surgeons to make challenging. We report the first successful short-term outcomes of one-stage minimally invasive aortic valve replacement and video ...
Satoshi Sakakibara, Hiroyuki Nishi, Shinya Fukui, Mutsunori Kitahara, Kazuma Handa, Yumi Kakizawa, Takasumi Goto, Yasunobu Funakoshi   +7 more
doaj   +1 more source

Transcatheter or Surgical Aortic-Valve Replacement in Intermediate-Risk Patients.

New England Journal of Medicine, 2016
BACKGROUND Previous trials have shown that among high-risk patients with aortic stenosis, survival rates are similar with transcatheter aortic-valve replacement (TAVR) and surgical aortic-valve replacement. We evaluated the two procedures in a randomized
M. Leon, Craig R. Smith, M. Mack, M. Mack, R. Makkar, L. Svensson, S. Kodali, V. Thourani, M. Tuzcu, D. C. Miller, H. Herrmann, Darshan Doshi, D. Cohen, A. Pichard, S. Kapadia, T. Dewey, V. Babaliaros, W. Szeto, Mathew R. Williams, D. Kereiakes, A. Zajarías, K. Greason, B. Whisenant, R. Hodson, J. Moses, A. Trento, David L. Brown, W. Fearon, P. Pibarot, R. Hahn, W. Jaber, W. Anderson, Maria C. Alu, J. Webb   +33 more
semanticscholar   +1 more source

Five-Year Outcomes of Transcatheter or Surgical Aortic-Valve Replacement.

New England Journal of Medicine, 2020
BACKGROUND There are scant data on long-term clinical outcomes and bioprosthetic-valve function after transcatheter aortic-valve replacement (TAVR) as compared with surgical aortic-valve replacement in patients with severe aortic stenosis and ...
R. Makkar, V. Thourani, M. Mack, S. Kodali, S. Kapadia, J. Webb, Sung-Han Yoon, A. Trento, L. Svensson, H. Herrmann, W. Szeto, D. C. Miller, L. Satler, D. Cohen, T. Dewey, V. Babaliaros, Mathew R. Williams, D. Kereiakes, A. Zajarías, K. Greason, B. Whisenant, R. Hodson, David L. Brown, W. Fearon, Mark J. Russo, P. Pibarot, R. Hahn, W. Jaber, E. Rogers, Ke Xu, Jaime Wheeler, Maria C. Alu, Craig R. Smith, M. Leon   +33 more
semanticscholar   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

Transcatheter Aortic‐Valve Replacement with a Balloon‐Expandable Valve in Low‐Risk Patients

New England Journal of Medicine, 2019
BACKGROUND Among patients with aortic stenosis who are at intermediate or high risk for death with surgery, major outcomes are similar with transcatheter aortic‐valve replacement (TAVR) and surgical aortic‐valve replacement.
M. Mack, M. Leon, V. Thourani, R. Makkar, S. Kodali, M. Russo, S. Kapadia, C. Malaisrie, D. Cohen, P. Pibarot, J. Leipsic, R. Hahn, P. Blanke, Mathew R. Williams, J. McCabe, David L. Brown, V. Babaliaros, S. Goldman, W. Szeto, P. Généreux, A. Pershad, S. Pocock, Maria C. Alu, J. Webb, Craig R. Smith   +24 more
semanticscholar   +1 more source

Pathological Investigation of Congenital Bicuspid Aortic Valve Stenosis, Compared with Atherosclerotic Tricuspid Aortic Valve Stenosis and Congenital Bicuspid Aortic Valve Regurgitation [PDF]

, 2016
Congenital bicuspid aortic valve (CBAV) is the main cause of aortic stenosis (AS) in young adults. However, the histopathological features of AS in patients with CBAV have not been fully investigated.We examined specimens of aortic valve leaflets ...
A Mazzone, A Vahanian, BA Warren, BF Stewart, C Ward, CA Simmons, D Aicher, ER Mohler 3rd, H Akahori, H Furukawa, Hatsue Ishibashi-Ueda, Hideaki Kanzaki, J Satta, JA Kennedy, Junjiro Kobayashi, K Imanaka-Yoshida, Katherine Yutzey, KL Chan, LJ Olson, M Lindroos, N Cote, N Shimojo, PR Moreno, R Wang, RA Nishimura, RF Ankeny, RM Weiss, RN El Accaoui, Satoshi Yasuda, SC Siu, SH Goldbarg, SM Fernandes, T Nishioka, T Yokokawa, TC Lee, Tomoyuki Fujita, Toshihisa Anzai, Toshiyuki Nagai, Y Soini, Yasuhiro Hamatani, Yasuo Sugano   +40 more
core   +6 more sources