Results 31 to 40 of about 11,601 (222)

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes [PDF]

, 2016
To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity
Bella, Eleonora Dalla, Caravello, Francesca, Castori, Marco, Cazzato, Daniele, Colombi, Marina, Dordoni, Chiara, Grammatico, Paola, Lauria, Giuseppe, Lombardi, Raffaella, Petrucci, Antonio   +9 more
core   +1 more source

Neurovisceral phenotypes in the expression of psychiatric symptoms [PDF]

, 2015
This review explores the proposal that vulnerability to psychological symptoms, particularly anxiety, originates in constitutional differences in the control of bodily state, exemplified by a set of conditions that include Joint Hypermobility, Postural ...
Aktas, Al-Rawi, Anderson, Andrew P. Owens, Arunkalaivanan, Baeza-Velasco, Bagai, Bayles, Beacher, Benarroch, Bendik, Benrud-Larson, Birner, Boddaert, Bohora, Bovell, Bulbena, Bulbena, Bulbena, Bulbena, Bulbena, Bulbena, Buodo, Castori, Child, Christopher J. Mathias, Cohen, Critchley, Critchley, Critchley, De Kort, De Wandele, Eccles, Eccles, Eccles, Ekman, Engel, Esler, Esler, Fenton, Friedman, Fu, Ganzeboom, Garcia Campayo, Gazit, Giada, Gracie, Grahame, Grahame, Grubb, Hakim, Hakim, Hugo D. Critchley, Hunt, Jessica A. Eccles, Joyner, Kanjwal, Kapoor, Karaca, Karan, Kaya, Kelly, Khurana, Khurana, Kirby, Koldas Dogan, Kouakam, Lader, Lambert, Lammers, Lee, Leftheriotis, Lemche, Lemche, Lewis, Lewis, Linzer, Lonsdale-Eccles, Low, Luborsky, Mallorqui-Bague, Martin-Santos, Masuki, Mathias, Mathias, Mayer-Gross, McGrady, Milhorat, Mohammed, Morgan, Mulvey, Nicotra, Nijs, Noppen, Ocon, Ocon, Ofluoglu, Ojha, Parsaik, Paulus, Peggs, Phillips, Porges, Pritchard, Raj, Raj, Ramos, Ross, Rozen, Sanches, Satoshi Umeda, Savage, Schievink, Schondorf, Seth, Sierra, Sierra, Sierra, Simeon, Sledge, Smith, Stachenfeld, Stewart, Stoler, Tinkle, Tracey, Umeda, Ventura, Vounotrypidis, Wooley, Yazici, Zarate, Zysko   +132 more
core   +2 more sources

The Vascular Type of Ehlers-Danlos Syndrome

Journal of Nippon Medical School, 2008
Vascular type of Ehlers-Danlos syndrome (EDS), also known as EDS type IV (NIM#130050) is a life-threatening autosomal dominant inherited disorder of connective tissue, caused by mutations of the COL3A1 gene. Vascular EDS causes severe fragility of connective tissues with arterial and intestinal ruptures and complications of surgical and radiological ...
Atsushi, Watanabe, Takashi, Shimada
openaire   +3 more sources

Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.

PLoS Genetics, 2022
Vascular Ehlers-Danlos syndrome is a rare inherited disorder caused by genetic variants in type III collagen. Its prognosis is especially hampered by unpredictable arterial ruptures and there is no therapeutic consensus.
Anne Legrand, Charline Guery, Julie Faugeroux, Erika Fontaine, Carole Beugnon, Amélie Gianfermi, Irmine Loisel-Ferreira, Marie-Christine Verpont, Salma Adham, Tristan Mirault, Juliette Hadchouel, Xavier Jeunemaitre   +11 more
doaj   +1 more source

Association Between Joint Hypermobility Syndrome and Developmental Coordination Disorder – A Review. [PDF]

, 2012
Introduction: The term joint hypermobility syndrome (JHS) was adopted after clinicians became aware of the myriad of symptoms associated with this multisystemic condition.
Clark, Carol J., Khattab, Ahmed D.
core   +1 more source

Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. [PDF]

, 2013
Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility.
Calzavara Pinton P., Chiarelli N., Colombi M., Dordoni C., Garavelli L., Manfredini E., Quinzani S., Ritelli M., Traversa M., Vascellaro A., Venturini M., Wischmeijer A., Zoppi N.   +12 more
core   +1 more source

Late conversion after endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques, 2019
Vascular Ehlers-Danlos syndrome is associated with life-threatening events. The management of the disease is challenging because of the emergency presentation of symptoms and the tissue friability of the aorta.
Georgios Karaolanis, MD, MSc, PhD, Özgun Sensebat, MD, Giovanni Torsello, MD, Theodosios Bisdas, MD, Konstantinos P. Donas, MD   +4 more
doaj   +1 more source

When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children [PDF]

, 2015
Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility.
Cattalini, Marco, Cimaz, Rolando, Khubchandani, Raju   +2 more
core   +2 more sources

Cervical artery dissection: An atypical presentation with Ehlers-Danlos-like collagen pathology? [PDF]

, 2004
The authors took skin biopsies of the macroscopically normal skin of seven consecutive patients with spontaneous cervical artery dissection (SCAD). Histologically, alterations of the collagen and elastic fiber networks were found in six patients. In five,
Diederich, N. J., Hermanns-Lê, Trinh, Macian, F., Metz, R. J., Pierard, Gérald, Ulbricht, D.   +5 more
core   +1 more source

Obstructive sleep apnea in a case of ehlers-danlos syndrome

Respiratory Medicine Case Reports, 2022
Ehlers-Danlos Syndrome (EDS) is a group of rare connective tissue disorders characterized by genetic defects in collagen and connective tissue synthesis and structure, with manifestations ranging from asymptomatic or mild skin and joint hyperlaxity to ...
Stephanie J. Mitri, Alain M. Sabri, Marie-Louise M. Coussa-Koniski   +2 more
doaj   +1 more source