Results 101 to 110 of about 24,774 (202)

Oral Manifestations of Non Vascular Ehlers‐Danlos Syndrome Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Background Ehlers–Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non‐vascular Ehlers‐Danlos syndromes compared to healthy controls.
Aude Grand, Benjamin P. J. Fournier, Grégoire Chevalier, Karelle Benistan, François Côme Ferré   +4 more
wiley   +1 more source

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]

, 2019
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré, De Backer, Julie, De Groote, Katya, De Wilde, Hans, De Wolf, Daniël, Dhondt, Karlien, Hertegonne, Katrien, Jordaens, Luc, Muiño Mosquera, Laura   +8 more
core   +1 more source

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis [PDF]

, 2006
Mutations in ADAMTS2, a procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) in humans.
Apte, Suneel S, Birk, David E, Colige, Alain, Kesteloot, Frédéric, Le Goff, Carine, Powell, Kimerly, Somerville, Robert PT   +6 more
core   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Is headache always necessary for the diagnosis of rebound intracranial hypertension in patients successfully treated for cerebrospinal fluid venous fistula?

Headache: The Journal of Head and Face Pain, EarlyView.
Rayyan Kinsara, Anish Kapadia, Howard Meng   +2 more
wiley   +1 more source

Coronofrontal rhytidectomy: A new approach for the treatment of severe pseudoptosis and superior entropion in dogs

Veterinary Ophthalmology, Volume 28, Issue 2, Page 403-412, March 2025.
Abstract Purpose To describe the use of coronofrontal rhytidectomy (CFR) for the treatment of severe pseudoptosis and superior entropion in dogs, and to provide guidelines for the selection of surgical technique depending on presentation. Methods A review of medical records of dogs that underwent rhytidectomy from 2002 to 2023 was carried out ...
Rita Vilao Cardoso, Marta Leiva, Cristina Seruca, Rodrigo P. Lacerda, Fernando Laguna, M. Teresa Peña   +5 more
wiley   +1 more source

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

The Ehlers-Danlos syndrome [PDF]

, 1971
A case study of a nineteen year old female illustrates the main features of the Ehlers-Danlos syndrome. This is a rare syndrome, the characteristic features of which are hyper elasticity and fragility of the skin, hyperextensibility of joints and ...
Psaila, Angelo J.
core   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Journal of Medical Case Reports, 2013
Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen.
Kashizaki Fumihiro, Hatamochi Atsushi, Kamiya Kazunori, Yoshizu Akira, Okamoto Hiroaki   +4 more
doaj   +1 more source