Results 91 to 100 of about 3,631,363 (269)

Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study

Experimental Physiology, EarlyView.
Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey, Richard G. Davies, Brenig L. Gwilym, Benjamin S. Stacey, Danny Walmsley, Michael H. Lewis, Josip Butkovic, Ivan Mumlek, Brad Perry, Zvonomir Vrselja, Shigehiko Ogoh, James A. Pawelczyk, Mohamad Bashir, Richard D. White, Ian M. Williams   +14 more
wiley   +1 more source

Marfan syndrome – typical musculoskeletal abnormalities, rare occurrence in children

, 2014
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. It is caused by a mutation in the fibrillin-1 (FBN1) gene located on chromosome 15 as a result of activation of transforming growth factor .
Zbigniew Żuber, Anna Solakiewicz, Dorota Turowska-Heydel, Małgorzata Sobczyk   +3 more
core   +1 more source

Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study.

The spine journal, 2019
BACKGROUND CONTEXT Dural ectasia is widening of the dural sac often seen in patients with Marfan syndrome and other hereditary connective tissue disorders. Dural ectasia can cause specific symptoms and is associated with surgical complications.
Tordis Böker, T. T. Vanem, A. Pripp, S. Rand-Hendriksen, B. Paus, H. Smith, R. Lundby   +6 more
semanticscholar   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2241-2249, October 2026.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs

European Journal of Pediatrics, 2019
Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation ...
Jessica Warnink-Kavelaars, A. Beelen, T. Goedhart, Lisanne E. de Koning, F. Nollet, M. Alsem, L. Menke, R. Engelbert   +7 more
semanticscholar   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
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

Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. [PDF]

PLoS ONE, 2011
Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and dissection are the major determinants of premature death in untreated patients.
Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch, Roland Hetzer, Peter N Robinson   +6 more
doaj   +1 more source

Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome

Nature Medicine, 2017
Heritable thoracic aortic aneurysms and dissections (TAAD), including Marfan syndrome (MFS), currently lack a cure, and causative mutations have been identified for only a fraction of affected families.
J. Oller, N. Méndez-Barbero, E. J. Ruiz, Silvia Villahoz, M. Renard, Lizet I. Canelas, A. Briones, Rut Alberca, Noelia Lozano-Vidal, M. Hurlé, D. Milewicz, A. Evangelista, M. Salaices, J. F. Nistal, Luis Jesús Jiménez-Borreguero, J. D. De Backer, M. Campanero, J. M. Redondo   +17 more
semanticscholar   +1 more source

Marfan's syndrome: an overview [PDF]

Sao Paulo Medical Journal, 2010
Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a ...
Yuan, Shi-Min, Jing, Hua
openaire   +5 more sources

Losartan Versus Atenolol for Prevention of Aortic Dilation in Patients With Marfan Syndrome.

Journal of the American College of Cardiology, 2018
BACKGROUND Beta-blockers are the standard treatment in Marfan syndrome (MFS). Recent clinical trials with limited follow-up yielded conflicting results on losartan's effectiveness in MFS.
G. Teixidó-Turà, A. Forteza, J. Rodríguez-Palomares, Jesús González Mirelis, L. Gutiérrez, V. Sánchez, B. Ibáñez, D. Garcia-Dorado, A. Evangelista   +8 more
semanticscholar   +1 more source