Results 51 to 60 of about 15,745 (181)
Background Marfan syndrome is a genetic disease, presenting with dysfunction of connective tissues leading to lesions in the cardiovascular and skeletal muscle system.
Kálmán Benke +13 more
doaj +1 more source
Vitreolensectomy in Marfan's syndrome [PDF]
To evaluate the effectiveness of pars plana vitreolensectomy in the management of subluxed lenses associated with Marfan's syndrome and to assess the need for intraoperative retinal photocoagulation to prevent post-operative retinal detachment.A retrospective review was carried out of 40 eyes of patients with Marfan's syndrome who underwent pars plana ...
A D, Hubbard +2 more
openaire +2 more sources
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study
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 +14 more
wiley +1 more source
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. [PDF]
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 +6 more
doaj +1 more source
Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren +8 more
wiley +1 more source
Marfan Syndrome: A Case Report
Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1.
Rajendran Ganesh +2 more
doaj +1 more source
Pregnancy and Marfan syndrome [PDF]
Pregnancy in women with Marfan syndrome (MFS) presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and deserves special consideration. The leading cause of morbidity and mortality in MFS is aortic dissection.
Sorel, Goland, Uri, Elkayam
openaire +2 more sources
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
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 +2 more
wiley +1 more source
Short‐Term Complications Are Rare After Cholesteatoma Surgery
ABSTRACT Objective To evaluate the incidence and nature of short‐term complications following cholesteatoma surgery in a heterogeneous cohort. Design A retrospective cohort study including complete coverage of cholesteatoma surgery in a Swedish region between 1 January 2005 and 31 December 2015.
Agnes Modée Borgström +3 more
wiley +1 more source

