Results 81 to 90 of about 110,929 (354)

Left lower lobectomy without pericardial reconstruction in a patient with a congenital pericardium defect [PDF]

, 2023
Jun Miura, Hiroyuki Ito, Hiroyuki Adachi, Tetsuya Isaka   +3 more
openalex   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Relationship between fibre orientation and tensile strength of natural collagen membranes for heart valve leaflets [PDF]

, 2011
Heart valve prostheses are used to replace native heart valves which that are damaged because of congenital diseases or due to ageing. Biological prostheses made of bovine pericardium are similar to native valves and do not require any anticoagulation ...
Alvarez, L., Atienza Riera, José Miguel, Bourges, Jean Yves, Garcia Paez, J.M., Guinea Tortuero, Gustavo V., Rojo Pérez, Francisco Javier   +5 more
core   +1 more source

Secondary cytotoxicity of (crosslinked) dermal sheep collagen during repeated exposure to human fibroblasts [PDF]

, 1992
We investigated commercially available dermal sheep collagen either cross-linked with hexamethylenediisocyanate, or cross-linked with glutaraldehyde. In previous in vitro studies we could discriminate primary, i.e. extractable, and secondary cytotoxicity,
Dijkstra, P.J., Feijen, J., Luyn, M.J.A. van, Nieuwenhuis, P., Olde Damink, L.H.H., Wachem, P.B. van   +5 more
core   +4 more sources

Culture Into Perfusion-Assisted Bioreactor Promotes Valve-Like Tissue Maturation of Recellularized Pericardial Membrane

Frontiers in Cardiovascular Medicine, 2020
Derivation of tissue-engineered valve replacements is a strategy to overcome the limitations of the current valve prostheses, mechanical, or biological.
Francesco Amadeo, Marianna Barbuto, Giacomo Bernava, Nicla Savini, Maura Brioschi, Stefano Rizzi, Cristina Banfi, Gianluca Polvani, Maurizio Pesce   +8 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Uso de pericárdio suíno no recobrimento de implantes de drenagem de glaucoma: um estudo experimental [PDF]

, 2008
PURPOSE: To evaluate the inflammatory response associated with the use of processed porcine pericardium and glycerin-preserved homologous sclera as silicone glaucoma drainage device coverage in a rabbit experimental model.
Pinto, Luciano Moreira, Regatieri, Caio Vinicius Saito, Rigueiro, Moacyr Pezati, Tavares, Ivan Maynart   +3 more
core   +2 more sources

Epicardial Ablation: Prevention of Phrenic Nerve Damage by Pericardial Injection of Saline and the Use of a Steerable Sheath

Indian Pacing and Electrophysiology Journal, 2014
Because of the close proximity of the phrenic nerve to the pericardium, phrenic nerve damage caused by epicardial ablation can easily occur. We report two cases of epicardial VT ablation where pericardial injection of saline, combined with the use of a ...
Kars Neven, MD, Juan Fernández-Armenta, MD, David Andreu, MSc, Antonio Berruezo, MD, PhD   +3 more
doaj   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source