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Johannes Birtel, Moritz Lindner, Divyansh K Mishra, Philipp L Müller, Doris Hendig, Philipp Herrmann, Frank G Holz, Monika Fleckenstein, Martin Gliem, Peter Charbel Issa
IMPORTANCE: The diagnostic accuracy of different retinal imaging modalities to detect active choroidal neovascularization (CNV) in pseudoxanthoma elasticum (PXE) is essential to enable a correct diagnosis but currently poorly understood. BACKGROUND: Optical coherence tomography (OCT), fluorescein angiography (FA) and optical coherence tomography angiography (OCT-A) are employed in daily practice but a systematic comparison of these imaging techniques is lacking...
August 31, 2018: Clinical & Experimental Ophthalmology
V Pipelart, S Leruez, L Martin, N Navasiolava, S Henni, J-M Ebran
PURPOSE: To study the prevalence of fundus anomalies among patients with pseudoxanthoma elasticum as a function of their age. MATERIAL AND METHODS: All patients have had a complete ophthalmologic examination in multidisciplinary consultation for PXE in a national reference center. RESULTS: Hundred and fifty-eight patients (60 men and 98 women aged from 10 to 90 years old, mean 45±17 years) were included in a cross-sectional retrospective study...
September 2018: Journal Français D'ophtalmologie
Qiaoli Li, Jianhe Huang, Anthony B Pinkerton, Jose Luis Millan, B D van Zelst, Michael A Levine, John P Sundberg, Jouni Uitto
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter ABCC6. It was recently demonstrated that the absence of ABCC6-mediated ATP release from the liver, and consequently reduced PPi levels, underlie the pathogenesis of PXE. Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading PPi, we hypothesized that reducing TNAP levels either by genetic or pharmacological means would lead to amelioration of the ectopic mineralization phenotype in the Abcc6-/- mouse model of PXE...
August 18, 2018: Journal of Investigative Dermatology
Qiaoli Li, Joshua Kingman, John P Sundberg, Michael A Levine, Jouni Uitto
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable disorders manifesting with ectopic tissue mineralization. Most cases of PXE and some cases of GACI are caused by mutations in the ABCC6 gene, resulting in reduced plasma pyrophosphate (PPi) levels. There is no effective treatment for these disorders. It has been suggested that administration of bisphosphonates, stable and non-hydrolyzable PPi analogs, could counteract ectopic mineralization in these disorders...
July 20, 2018: Oncotarget
Emmanuel Letavernier, Gilles Kauffenstein, Léa Huguet, Nastassia Navasiolava, Elise Bouderlique, Ellie Tang, Léa Delaitre, Dominique Bazin, Marta de Frutos, Clément Gay, Joëlle Perez, Marie-Christine Verpont, Jean-Philippe Haymann, Viola Pomozi, Janna Zoll, Olivier Le Saux, Michel Daudon, Georges Leftheriotis, Ludovic Martin
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models. METHODS: We conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from Abcc6 -/- mice at various ages...
September 2018: Journal of the American Society of Nephrology: JASN
Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Federica Boraldi, Daniela Quaglino, Gianni Virgili, Stanislao Rizzo
PURPOSE: To study peripapillary comet lesions (PCL) in Italian patients affected with pseudoxanthoma elasticum (PXE). METHODS: Retrospective review of fundoscopic and swept-source (SS) optical coherence tomography (OCT) images of patients with PXE examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Careggi Teaching Hospital of Florence from 2012 to 2017. RESULTS: From 148 eyes of 74 patients affected with PXE, we identified 24 eyes of 14 patients (11 were female) with a mean age of 39 years (range, 20-58 years) characterized by peripapillary comet lesions...
September 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Vinod Kumar
BACKGROUND AND OBJECTIVE: To report the association of angioid streaks in patients with Pseudoxanthoma elasticum (PXE) with reticular pseudodrusen (RPD), thin choroid, and retinal pigment epithelium (RPE) atrophy using swept-source optical coherence tomography (SS-OCT) and short-wave autofluorescence (SWAF). PATIENTS AND METHODS: Retrospective cross-sectional study. Records of consecutive patients with angioid streaks due to PXE, who presented with a decrease of vision due to choroidal neovascularization (CNV), were reviewed for best-corrected visual acuity, color fundus photographs, SS-OCT, SWAF, and red-free images with special emphasis on presence or absence of RPD, subfoveal choroidal thickness (SFCT), and RPE atrophy...
June 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
Annelotte Vos, Guido Kranenburg, Pim A de Jong, Willem P T M Mali, Wim Van Hecke, Ronald L A W Bleys, Ivana Isgum, Aryan Vink, Wilko Spiering
OBJECTIVES: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, characterised by elastic fibre degeneration and calcifications in multiple organ systems. Computed tomography (CT) imaging is a potential method to monitor disease progression in PXE patients; however, this method has not been validated. The aim of this study was to correlate histological and computed tomographic findings in PXE patients to investigate the ability of CT scanning to detect these alterations. METHODS: Post mortem total body CT scans were obtained from two PXE patients (a 69-year-old male and 77-year-old female)...
August 2018: Insights Into Imaging
Guido Kranenburg, Annette F Baas, Pim A de Jong, Folkert W Asselbergs, Frank L J Visseren, Wilko Spiering
BACKGROUND: Pseudoxanthoma elasticum (PXE), an autosomal recessive systemic calcification disorder, is caused by mutations in the ABCC6-gene and associated with severe visual impairment and peripheral arterial disease. Given the progress in development of a therapy for PXE, more precise estimations of its prevalence are warranted. METHODS: We genotyped the four most common ABCC6 mutations (c.3421C > T, c.4182delG, c.3775delT, c.2787+1G > T), together accounting for half of all ABCC6 mutations identified in PXE patients from the Dutch population, in a Dutch high vascular risk cohort (n = 7893)...
May 22, 2018: European Journal of Medical Genetics
Juan Luis Carrillo-Linares, María Inmaculada García-Fernández, María José Morillo, Purificación Sánchez, José Rioja, Francisco Javier Barón, María José Ariza, Dominic J Harrington, David Card, Federica Boraldi, Daniela Quaglino, Pedro Valdivielso
Introduction: Pseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process. Our aim was to investigate, in patients affected by PXE, baseline levels of vitamin K1 -dependent proteins and -metabolites and whether parenteral administration of phytomenadione was effective in modulating their levels. Methods: We included eight PXE patients with typical clinical symptoms (skin, retina, and vascular calcification) and two ABCC6 causative mutations; 13 clinically unaffected first-degree patients' relatives (9 carrying one ABCC6 mutation and 4 non-carriers)...
2018: Frontiers in Medicine
Marta Bertamino, Mariasavina Severino, Alice Grossi, Marta Rusmini, Domenico Tortora, Carlo Gandolfo, Silvia Pederzoli, Clara Malattia, Paolo Picco, Pasquale Striano, Isabella Ceccherini, Maja Di Rocco
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke...
July 2018: European Journal of Paediatric Neurology: EJPN
Sara Risseeuw, Jeannette Ossewaarde-van Norel, Caroline C W Klaver, Johanna M Colijn, Saskia M Imhof, Redmer van Leeuwen
PURPOSE: To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality and similar data of late age-related macular degeneration patients. METHODS: Cross-sectional data of 195 patients with PXE were reviewed, including best-corrected visual acuity and imaging. The World Health Organisation criteria were used to categorize bilateral visual impairment. These results were compared with similar data of 131 patients with late age-related macular degeneration from the Rotterdam study...
April 12, 2018: Retina
Sebastian Gorgonius Passon, Viviane Küllmar, Anna Katharina Blatzheim, Kristin Solveig Pausewang, Max Jonathan Stumpf, Doris Hendig, Martin Gliem, Simon Pingel, Robert Schueler, Dirk Skowasch, Najib Schahab, Georg Nickenig, Christian Alexander Schaefer
Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). All participants underwent an angiological examination including ankle-brachial index (ABI) and were examined with speckle-tracking based vascular strain analysis of common carotid arteries, measuring radial displacement (r...
February 2018: Intractable & Rare Diseases Research
G Perazzolli, G Girolomoni, C Colato, D Quaglino
No abstract text is available yet for this article.
September 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Guido Kranenburg, Pim A de Jong, Jonas W Bartstra, Suzanne J Lagerweij, Marnix G Lam, Jeannette Ossewaarde-van Norel, Sara Risseeuw, Redmer van Leeuwen, Saskia M Imhof, Harald J Verhaar, Job J de Vries, Riemer H J A Slart, Gert Luurtsema, Annemarie M den Harder, Frank L J Visseren, Willem P Mali, Wilko Spiering
BACKGROUND: In pseudoxanthoma elasticum (PXE), low pyrophosphate levels may cause ectopic mineralization, leading to skin changes, visual impairment, and peripheral arterial disease. OBJECTIVES: The authors hypothesized that etidronate, a pyrophosphate analog, might reduce ectopic mineralization in PXE. METHODS: In the Treatment of Ectopic Mineralization in Pseudoxanthoma Elasticum trial, adults with PXE and leg arterial calcifications (n = 74) were randomly assigned to etidronate or placebo (cyclical 20 mg/kg for 2 weeks every 12 weeks)...
March 13, 2018: Journal of the American College of Cardiology
Gilles Kauffenstein, Gennady G Yegutkin, Salim Khiati, Viola Pomozi, Olivier Le Saux, Georges Leftheriotis, Guy Lenaers, Daniel Henrion, Ludovic Martin
Pseudoxanthoma elasticum (PXE) is a rare genetic condition primarily caused by hepatic ABCC6 transporter dysfunction. Most clinical manifestations of PXE are due to premature calcification of elastic fibers. However, the vascular impact of PXE is pleiotropic and remains ill defined. ABCC6 expression has recently been associated with cellular nucleotide export. We studied the impact of ABCC6 deficiency on blood levels of adenosine triphosphate and related metabolites and on soluble nucleotidase activities in PXE patients and Abcc6-/- mice...
August 2018: Journal of Investigative Dermatology
J M Ebran, L Martin, Leftheriotis, N Navasiolava, M Ferre, D Milea, S Leruez
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients...
April 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Melody Maarouf, Victoria R Sharon, Raja K Sivamani, Neha Prakash, T H Bipin, Tracy Davis, Vivian Y Shi
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic cutaneous findings of PXE with the additional unusual findings of numerous open comedones on the neck...
September 15, 2017: Dermatology Online Journal
Guido Kranenburg, Frank L J Visseren, Gert Jan de Borst, Pim A de Jong, Wilko Spiering
BACKGROUND AND AIMS: Patients with pseudoxanthoma elasticum (PXE), a monogenetic calcification disease, are at high vascular risk. Although the precise arterial phenotype remains unestablished, it is hypothesized that PXE predominantly affects the medial arterial layer leading to arterial stiffening. We aimed to test this hypothesis by measuring arterial wall characteristics in PXE and comparisons with the general population and diabetes mellitus type 2 (DM2), a condition typically associated with mixed intimal and medial arterial disease...
March 2018: Atherosclerosis
Jin Soo A Song, Jayme Vianna, Lesya Shuba, Paul Rafuse, Marcelo Nicolela
OBJECTIVE: Laser trabeculoplasty effectively reduces intraocular pressure (IOP) in primary open angle glaucoma, with argon laser trabeculoplasty (ALT) and selective laser trabeculoplasty (SLT) showing equivalent outcomes. However, it is unclear which laser modality is more effective in pseudoexfoliation (PXE) glaucoma. This study aims to compare the effectiveness of ALT and SLT in PXE glaucoma. DESIGN: Retrospective cohort study. METHODS: A chart review evaluating patients diagnosed with PXE glaucoma and treated with laser trabeculoplasty from 2005-2015...
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
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