Results 101 to 110 of about 8,705 (254)

Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum.

Atherosclerosis, 2019
BACKGROUND AND AIMS In pseudoxanthoma elasticum (PXE), low levels of inorganic pyrophosphate result in extensive arterial calcification. Recently, the treatment of ectopic mineralization in the PXE (TEMP) trial showed that one year of treatment with ...
J. Bartstra, P. D. de Jong, G. Kranenburg, J. Wolterink, I. Išgum, Alayna Wijsman, B. Wolf, A. D. den Harder, W. Mali, W. Spiering   +9 more
semanticscholar   +1 more source

The Natural History of Bruch’s Membrane Calcification in Pseudoxanthoma Elasticum

Ophthalmology Science, 2020
Purpose To describe the natural history of Bruch’s membrane (BM) calcification in patients with pseudoxanthoma elasticum (PXE). Design Retrospective cohort study.
S. Risseeuw, R. van Leeuwen, S. Imhof, W. Spiering, J. O. Norel   +4 more
semanticscholar   +1 more source

Pseudoxanthoma Elasticum [PDF]

ACG Case Reports Journal, 2020
Qian, Steve S, Kesar, Varun, Shah, Farah, Park, Dan, Sorrentino, Dario   +4 more
openaire   +4 more sources

Pseudoxanthoma elasticum. Case presentation

Medisur, 2009
The case of a female patient of 23 years of age is presented. The patient attended to the dermatology consultation in her health area for skin lesions in the neck area, of 10 years of evolution with new lesions after three years in different parts of her
Graciela Caridad Cabrera Acea, Ana Dolores López Marquet, María Julia Cabrera Pereda   +2 more
doaj   +2 more sources

De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Cutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of < 1 in 1,000,000 individuals. In addition to the distinctive cutaneous manifestations, cutis laxa can present with a constellation of ...
Subhangi Chandan, Jay Gohri, Arshia Jolly, Mayuri Chaurasia   +3 more
wiley   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Pseudoxanthoma elasticum with periumbilical perforation in a Nullipara

Indian Journal of Dermatology, 2012
Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder that primarily affects the skin and is characterized by progressive calcification and degeneration of the elastic fibers. PXE has recently been found to be caused by mutations in the ATP-
Parimalam Kumar, Athilakshmi Sivasubramanian, Sampath Vadivel, Manoharan Krishnaswamy   +3 more
doaj   +1 more source

Liquid Polycaprolactone (PCL) for Reversing PXE's Skin Laxity of Inner Thighs and Knees: A Case Report

Journal of Cosmetic Dermatology, Volume 24, Issue 2, February 2025.
ABSTRACT Background/Aim Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that affects the skin with limited treatment options. A recent technology employing particle‐free polycaprolactone (PCL) has shown promising results in treating inner thighs and kness of a 27‐year‐old female patient.
Emmanouil Dimonitsas, Agni Albanopoulou, Foteini Neamonitou, Eleftheria Lakiotaki, Penelope Korkolopoulou, Maria Gazouli   +5 more
wiley   +1 more source

Hypotony Maculopathy Related to Anti-VEGF Intravitreal Injection

International Medical Case Reports Journal, 2022
Mário Lima-Fontes,1 Gonçalo Godinho,2 Ana Maria Cunha,1 Carolina Madeira,3 Manuel Falcão,1,4 Fernando Falcão-Reis,1,4 Ângela Carneiro1,4 1Department of Ophthalmology, Centro Hospitalar Universitário São João, Porto, Portugal; 2Department of Ophthalmology,
Lima-Fontes M, Godinho G, Cunha AM, Madeira C, Falcão M, Falcão-Reis F, Carneiro    +6 more
doaj  

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt   +14 more
wiley   +1 more source