Results 111 to 120 of about 11,601 (222)

Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]

, 2012
In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
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Vascular pathology in hereditary connective tissue disorders

Российский кардиологический журнал, 2013
The large group of hereditary connective tissue disorders includes several hundreds of genetically heterogeneous diseases with systemic connective tissue pathology. The clinical manifestations of the latter are determined by mutation types.
M. A. Perekalskaya, I. I. Volkova, Yu. O. Ostanina, E. B. Luksha   +3 more
doaj   +1 more source

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
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SS25. Cryopreserved Venous Allograft: An Alternative Conduit for Reconstruction of Infected Prosthetic Aortic Grafts [PDF]

, 2009
Olivé Milián, ArmandPla general picat del mosaic format per tres cercles: el central, amb un sol de color ocre sobre un cel blau. El sol, somrient, està encarat cap al sud.
MacTaggart, Jason N., Monahan, Thomas S., Hiramoto, Jade S., Chuter, Timothy A.M., Schneider, Darren B., Sarkar, Rajabrata, Eichler, Charles M., Rapp, Joe H., Conte, Michael S., Reilly, Linda M.   +9 more
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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
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The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms

Current Issues in Molecular Biology
The COL3A1 gene, encoding the pro-alpha chain of type III collagen, has been implicated in a range of collagen-mediated diseases such as Ehlers–Danlos syndrome and aortic aneurysms.
Charlene Norgan Radler, Kevin Ku, Alison Hodge, Tianci Wang, Peyton Moore, Mohanakrishnan Sathyamoorthy   +5 more
doaj   +1 more source

P-17 Importance of the ortopantomographic study for the detection of life-treatening rare diseases [PDF]

, 2016
A rapid diagnostic of some Rare Diseases (RD) can save the patent's life.
Adserias Garriga, Maria José, Chimenos Küstner, Eduardo, Manzanares Céspedes, María Cristina, Ruiz, C., Viñals Iglesias, Helena, Vázquez Salceda, María del Carmen   +5 more
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The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family [PDF]

, 2015
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) enzymes are secreted, multi-domain matrix-associated zinc metalloendopeptidases that have diverse roles in tissue morphogenesis and patho-physiological remodeling, in ...
A Colige, A Didangelos, A Luque, A Moncada-Pazos, A Noel, A Tan Ide, AC Jonsson-Rylander, AC Nicholson, AJ Fosang, B Joe, BH Koo, BH Koo, BV Nusgens, C Casal, C Esselens, C Gendron, C Kintakas, C Lopez-Otin, C Ricciardelli, CB Kern, CG Viloria, CH Mjaatvedt, CJ Liu, CJ Liu, CL Jacobi, CM Dancevic, CN Brocker, CR Flannery, D Wagsater, DL Russell, DL Silver, DR Edwards, DR McCulloch, DT Jones, Dylan R Edwards, EA Lin, EC Arner, ED Karagiannis, EM Majerus, F Guo, F Vazquez, FG Brunet, FX Gomis-Ruth, FX Gomis-Ruth, G Gao, G Gao, G Hashimoto, G Murphy, GC Choi, GE Lind, GG Levy, GJ Wayne, Grant N Wheeler, H Enomoto, H Jin, H Stanton, H Stanton, HL Lung, HM Brown, I Abbaszade, I Peluso, Ines Desanlis, J Dubail, J Dubail, J Felsenstein, J Hofsteenge, J Huxley-Jones, J Huxley-Jones, J Morales, JA Pyun, JC Adams, JC Rodriguez-Manzaneque, JC Rodriguez-Manzaneque, JC Rodriguez-Manzaneque, JD Sandy, JM Longpre, K Demircan, K Fujikawa, K Gopalakrishnan, K Kuno, K Kuno, K Stankunas, K Tamura, K Yamamoto, K Yamamoto, L Angerer, L Faivre, L Mittaz, L Mosyak, L Troeberg, L Troeberg, L Troeberg, L Wagstaff, LA Collins-Racie, LE Dupuis, LM Ricketts, M Cudic, M Hour El, M Kashiwagi, M Krampert, M Llamazares, MA Aldahmesh, MD Tortorella, MN Vankemmelbeke, N Dagoneau, N Hattori, N Rocks, N Rocks, N Stupka, NH Lim, NV Lee, NV Lee, P Wang, PH Lo, PJ Koshy, PS Chockalingam, R Kelwick, RC Salter, RH Song, Richard Kelwick, RL Robker, RP Somerville, RP Somerville, RS Patel, S Abdul-Majeed, S Gerhardt, S Kumar, S Kumar, S Nandadasa, S Porter, S Porter, SS Apte, SS Glasson, T Fontanil, T Shindo, TN Wight, U Auf Dem Keller, W Du, W Zeng, WE Kutz, WM Wang, X Lu, X Pu, XL Zheng, YJ Liu, YP Hsu   +145 more
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
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Abdominal complications of vascular Ehlers-Danlos syndrome

Acta Biomedica Scientifica
Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the synthesis and function of collagen. The vascular type (vEDS) is one of the most severe variants of the disease, associated with high mortality rates due to the development of life ...
V. N. Stalmakhovich, A. A. Dyukov, R. A. Teschuk   +2 more
doaj   +1 more source