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Qiaoli Li, Jouni Uitto
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is an autosomal recessive disease characterized by deposition of calcium hydroxyapatite in the skin, eyes, and cardiovascular system, with protean manifestations (Li et al., 2016; Li and Uitto, 2013; Neldner, 1988). The classic form of PXE is late-onset and slow-progressing, and the major clinical problems relate to loss of vision and development of cardiovascular complications (Neldner, 1988). The classic form of PXE is caused by loss-of-function mutations in the ABCC6 gene encoding ATP-binding cassette subfamily C, member 6 (ABCC6), a putative transmembrane efflux transporter protein expressed primarily in the liver and kidneys...
December 2018: Journal of Investigative Dermatology. Symposium Proceedings
Maurizio Battaglia Parodi, Francesco Romano, Alessandro Marchese, Alessandro Arrigo, Victor Llorenç, Maria Vittoria Cicinelli, Francesco Bandello, Alfredo Adán
PURPOSE: To evaluate the efficacy of intravitreal anti-VEGF injections in choroidal neovascularization (CNV) related to pattern dystrophy-like deposit in pseudoxanthoma elasticum (PXE). METHODS: One-year prospective, interventional study. Nine eyes were recruited in the ophthalmology departments of San Raffaele University and University of Barcelona. Each patient underwent best corrected visual acuity (BCVA) measurement on ETDRS chart, slit-lamp biomicroscopy, fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT)...
November 23, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Viola Pomozi, Charnelle B Julian, Janna Zoll, Kevin Pham, Sheree Kuo, Natália Tőkési, Ludovic Martin, András Váradi, Olivier Le Saux
Pseudoxanthoma elasticum (PXE) is a heritable disease caused by ABCC6 deficiency. Patients develop ectopic calcification in skin, eyes and vascular tissues. ABCC6, primarily found in liver and kidneys, mediates the cellular efflux of ATP, which is rapidly converted into pyrophosphate (PPi), a potent inhibitor of calcification. PXE patients and Abcc6-/- mice display reduced PPi levels in plasma and peripheral tissues. PXE is currently incurable, although some palliative treatments exist. In recent years, we have successfully developed therapeutic methodologies to compensate the PPi deficit in animal models and humans...
November 20, 2018: Journal of Investigative Dermatology
Piet Borst, András Váradi, Koen van de Wetering
Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape. Nevertheless, it took until 2013 to identify the cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in aberrant calcification. The mechanism found was not only biochemically interesting but also points to possible new treatments for PXE, a disease that has remained untreatable...
November 13, 2018: Trends in Biochemical Sciences
Qiao Sun, Weijun Wang, Lifang Wu, Lu Cheng, Xuemei Tong, Xun Xu
PURPOSE: To identify the clinical characteristics and pathogenic genes among a Chinese family with angioid streaks and to assess a novel splicing mutation at the transcriptional and translational levels. METHODS: Consenting family members were clinically evaluated, and blood samples were collected for targeted exome capture sequencing and/or Sanger sequencing. The two affected siblings were assessed by multimodal fundus imaging. ABCC6 splicing patterns were analysed by RNA identification and quantification using the proband's peripheral blood mononuclear cells...
October 17, 2018: Acta Ophthalmologica
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, Bertrand 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 shown that the absence of ABCC6-mediated adenosine triphosphate release from the liver and, consequently, reduced inorganic pyrophosphate levels underlie the pathogenesis of PXE. Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading inorganic pyrophosphate, 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
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