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Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling [PDF]

Frontiers in Cell and Developmental Biology
The introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish.
Jeffrey Aalders, Laura Muiño Mosquera, Laura Muiño Mosquera, Jolanda van Hengel   +3 more
doaj   +2 more sources

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

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

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

Molecular Genetics & Genomic Medicine, 2023
Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling ...
Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro   +9 more
doaj   +1 more source

Combined spinal-epidural anesthetic management of delivery for marfan syndrome: Case report

Journal of Obstetric Anaesthesia and Critical Care, 2023
Pregnancy in a patient with Marfan syndrome is associated with risks, including cardiovascular complications. The hemodynamic changes of pregnancy during delivery are deleterious to Marfan syndrome patients.
Matea Malinovic, Kimberly Babiash, Felecia Newton   +2 more
doaj   +1 more source

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Human Mutation, Volume 43, Issue 12, Page 1824-1828, December 2022., 2022
Abstract Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies.
Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys   +16 more
wiley   +1 more source

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Molecular Genetics & Genomic Medicine, 2021
Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien   +11 more
doaj   +1 more source

Global Aortic Pulse Wave Velocity is Unchanged in Bicuspid Aortopathy With Normal Valve Function but Elevated in Patients With Aortic Valve Stenosis: Insights From a 4D Flow MRI Study of 597 Subjects

Journal of Magnetic Resonance Imaging, Volume 57, Issue 1, Page 126-136, January 2023., 2023
Background Aortopathy is common with bicuspid aortic valve (BAV), and underlying intrinsic tissue abnormalities are believed causative. Valve‐mediated hemodynamics are altered in BAV and may contribute to aortopathy and its progression. The contribution of intrinsic tissue defects versus altered hemodynamics to aortopathy progression is not known ...
Ethan M.I. Johnson, Michael B. Scott, Kelly Jarvis, Bradley Allen, James Carr, S. Christopher Malaisrie, Patrick McCarthy, Christopher Mehta, Paul W.M. Fedak, Alex J. Barker, Michael Markl   +10 more
wiley   +1 more source

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study

Orphanet Journal of Rare Diseases, 2022
Background Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities.
Niels H. Andersen, Ellen-Margrethe Hauge, Thomas Baad-Hansen, Kristian A. Groth, Agnethe Berglund, Claus H. Gravholt, Kirstine Stochholm   +6 more
doaj   +1 more source

IMPACT (Information Medically Pertinent in Acute Computed Tomography) requests: Delphi study to develop criteria standards for adequate clinical information in computed tomography requests in the Australian emergency department

Journal of Medical Radiation Sciences, Volume 69, Issue 4, Page 421-430, December 2022., 2022
Currently, in Australia there are no published guidelines on what constitutes adequate clinical information in requests for Computed Tomography (CT). An e‐Delphi study was conducted to gain consensus from CT reporting consultant radiologists as to what constitutes adequate clinical information for patients presenting to the emergency department with ...
Chelsea Castillo, Tom Steffens, Georgia Livesay, Lawrence Sim, Liam Caffery   +4 more
wiley   +1 more source