Results 21 to 30 of about 27,131 (277)

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources

Tracheal Compression by Aberrant Innominate Artery: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
The brachiocephalic trunk arises from the convexity of the aortic arch, posterior to the manubrium sterni. In rare cases, the origin of the brachiocephalic trunk is shifted to the left of the midline, crosses the trachea through an oblique course, and ...
Ankit Agarwal, Nidhi Bedi, Pankaj Abrol, Ankit Parakh, Renu Sharma   +4 more
doaj   +1 more source

Sequential ruptures of penetrating atherosclerotic ulcers of ascending aorta, aortic arch and descending thoracic aorta

Journal of Cardiothoracic Surgery, 2020
Background Penetrating ulcers of aorta, aortic dissections and intramural hematomas all come under acute aortic syndromes and have important similarities and differences.
Pankaj Kaul, Rodolfo Paniagua, Afroditi Petsa, Raj Singh   +3 more
doaj   +1 more source

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

, 2020
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander, Beyens, Aude, Boel, Annekatrien, Burger, Joyce, Callewaert, Bert, Casteleyn, Christophe, Coucke, Paul, Descamps, Benedicte, Essers, Jeroen, Reinhardt, Dieter, Renard, Marjolijn, van der Pluijm, Ingrid, Vanhomwegen, Marine, Vanhove, Christian, Willaert, Andy   +14 more
core   +1 more source

22q11.2 deletion syndrome [PDF]

, 2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S., Emanuel, Beverly S., Marino, Bruno, McDonald-McGinn, Donna M., Morrow, Bernice E., Philip, Nicole, Scambler, Peter J., Sullivan, Kathleen E., Swillen, Ann, Vermeesch, Joris R., Vorstman, Jacob A. S., Zackai, Elaine H.   +11 more
core   +1 more source

Rare double orifice mitral valve malformation associated with bicuspid aortic valve in Turner syndrome: diagnosed by a series of novel three-dimensional echocardiography and literature review

BMC Cardiovascular Disorders, 2021
Background Patients with both double orifice mitral valve (DOMV) and bicuspid aortic valve (BAV) malformation are rare. Although DOMV or BAV can be detected in some genetic syndromes, it has not been reported to simultaneously appear in Turner syndrome ...
Feifei Sun, Xueying Tan, Aijiao Sun, Xintong Zhang, Yanxiao Liang, Weidong Ren   +5 more
doaj   +1 more source

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

Immune-Complex Allergic Vasculitis in Association with the Immune-Complex Allergic Vasculitis in Association with the Development of Transverse Myelitis: A Case Report [PDF]

, 1996
A severe vasculitis, probably therapy related, in a sixty-four-year-old man being treated for possible subacute bacterial endocarditis, was associated with the development of transverse myelitis.
Günter Pilz, Lie JT, Paine RS, Sigrid Nikol, Tanya Y. Huehns, Wolfgang von Scheidt   +5 more
core   +1 more source

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling [PDF]

, 2016
Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects.
Freeze, Samantha L., Helm, Benjamin M., Landis, Benjamin J., Ware, Stephanie M.   +3 more
core   +1 more source

Patient with non-cardioembolic ischemic stroke or high-risk transient ischemic attack. Part 1. Diagnosis

Неврология, нейропсихиатрия, психосоматика, 2023
Non-cardioembolic stroke and transient ischemic attack (TIA) are heterogeneous conditions, some variants of which are associated with a high short-term and long-term risk of cardiovascular events.
A. A. Kulesh, S. N. Yanishevsky, D. A. Demin, L. I. Syromyatnikova, O. I. Vinogradov   +4 more
doaj   +1 more source