Results 1 to 10 of about 6,809 (242)

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum [PDF]

Ophthalmology Science, 2023
Purpose: To investigate the histology of Bruch’s membrane (BM) calcification in pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging. Design: Experimental study with clinicopathological correlation.
Sara Risseeuw, MD, PhD, Matthew G. Pilgrim, PhD, Sergio Bertazzo, PhD, Connor N. Brown, PhD, Lajos Csincsik, PhD, Sarah Fearn, PhD, Richard B. Thompson, PhD, Arthur A. Bergen, PhD, Jacoline B. ten Brink, BAS, Elod Kortvely, PhD, Wilko Spiering, MD, PhD, Jeannette Ossewaarde–van Norel, MD, PhD, Redmer van Leeuwen, MD, PhD, Imre Lengyel, PhD   +13 more
doaj   +3 more sources

Pseudoxanthoma elasticum – Genetics, pathophysiology, and clinical presentation [PDF]

Progress in Retinal and Eye Research
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine ...
Kristina Hes, Imre Lengyel, Jeannette Ossewaarde-Van Norel   +2 more
exaly   +3 more sources

The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate [PDF]

Trials
Background /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch’s membrane.
Laetitia Clotaire, Isabelle Rubera, Christophe Duranton, Jocelyn Gal, Emmanuel Chamorey, Hélène Humeau, Samir Yamani, Christine Chiaverini, Serge Willoteaux, Bernard Padovani, Laurie Mourozeau, Adam Mainguy, Stéphanie Baillif, Ludovic Martin, Georges Leftheriotis   +14 more
doaj   +3 more sources

Increased Intracranial Arterial Pulsatility and Microvascular Brain Damage in Pseudoxanthoma Elasticum. [PDF]

AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Carotid siphon calcification might contribute to the high prevalence of cerebrovascular disease in pseudoxanthoma elasticum through increased arterial flow pulsatility.
Bartstra JW, van den Beukel T, Kranenburg G, Geurts LJ, den Harder AM, Witkamp T, Wolterink JM, Zwanenburg JJM, van Valen E, Koek HL, Mali WPTM, de Jong PA, Hendrikse J, Spiering W.   +13 more
europepmc   +4 more sources

The Purinergic Nature of Pseudoxanthoma Elasticum [PDF]

Biology
Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fiber calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations in ABCC6 that encodes an ABC transporter primarily expressed in the liver ...
Gilles Kauffenstein, Ludovic Martin, Olivier Le Saux   +2 more
doaj   +3 more sources

Pseudoxanthoma Elasticum and Light-Chain Amyloidosis [PDF]

European Journal of Inflammation, 2012
Pseudoxanthoma elasticum is a heritable disorder of connective tissue characterized by cutaneous, vascular and ocular changes that result from the accumulation of fragmented elastic fibres.
M. Carlesimo, C. Abruzzese, G. Cortesi, A.M. Ciccone, C. Poggi, M. Lombardi, A. Moscetti, G. La Verde, E. Mari   +8 more
doaj   +2 more sources

Pulsatility Attenuation along the Carotid Siphon in Pseudoxanthoma Elasticum

American Journal of Neuroradiology, 2021
We compared velocity pulsatility, distensibility, and pulsatility attenuation along the intracranial ICA and MCA between 50 patients with pseudoxanthoma elasticum and 40 controls.
van der Schaaf, I.C., Mali, W. P.T.M., Velthuis, B. K., Zwanenburg, J. J.M., Mali, W.P.T.M., van der Schaaf, I. C., Bartstra, J.W., Ruigrok, Y.M., Velthuis, B.K., van Tuijl, R. J., Zwanenburg, J.J.M., van Tuijl, R.J., Rinkel, G.J.E., Bartstra, J. W., de Jong, P. A., Spiering, W., Rinkel, G. J.E., de Jong, P.A., Ruigrok, Y. M.   +18 more
core   +2 more sources

Genotype-phenotype correlation in pseudoxanthoma elasticum

Atherosclerosis, 2021
BACKGROUND AND AIMS Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability.
Sara Risseeuw, Pim A De Jong, Bram Van Os   +2 more
exaly   +2 more sources

Multimodal imaging in Angioid streaks with Pseudoxanthoma elasticum : a case report

Bhutan Health Journal, 2022
Angioid streaks refer to dehiscence in the Bruch’s membrane- retinal pigment epithelium complex. It appear as dark to brownish streaks radiating from optic nerve on funduscopy.
Phuntsho Dorji, Sushma Jayanama, Sandip Tamang, Birendra Pradhan   +3 more
doaj   +3 more sources

Ophthalmologic manifestations of pseudoxanthoma elasticum

Oman Journal of Ophthalmology, 2018
Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
Khrifi Zineb
doaj   +2 more sources