Results 61 to 70 of about 2,564 (158)

Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE)

, 2023
Objective: Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that may be associated with a high prevalence of peripheral artery disease (PAD) and related symptoms.
de Borst, Gert J., Verwer, Maarten C., Hazenberg, Constantijn E.V.B., Spiering, Wilko, Zorgeenheid Vaatchirurgie Medisch, Regenerative Medicine and Stem Cells, MS Vasculaire & Endocrinologie, Circulatory Health   +7 more
core  

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

The Interconnected World of Dermatology and Ophthalmology

JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das, Prajwal Pudasaini   +4 more
wiley   +1 more source

Oral Citrate Supplementation Mitigates Age‐Associated Pathologic Intervertebral Disc Calcification in LG/J Mice

Aging Cell, Volume 24, Issue 5, May 2025.
An endochondral differentiation process in the CEPs drives pathologic disc calcification in aging LG/J mice, and NP cell hypertrophic transdifferentiation secondarily contributes. Supplementing drinking water with 80 mM K3Citrate during aging markedly reduced disc calcification, attenuated NP cell transdifferentiation, and mildly improved NP and AF ...
Olivia K. Ottone, Jorge J. Mundo, Boahen N. Kwakye, Amber Slaweski, John A. Collins, Qinglin Wu, Margery A. Connelly, Fatemeh Niaziorimi, Koen van de Wetering, Makarand V. Risbud   +9 more
wiley   +1 more source

Pharmacokinetics and Safety of Oral Pyrophosphate in Systemic Sclerosis Patients—A Pilot Study

ACR Open Rheumatology, Volume 7, Issue 4, April 2025.
Objective Calcinosis is a manifestation of systemic sclerosis with a severe negative impact on quality of life. Efforts to find a treatment for calcinosis have been hindered by our limited understanding of the underlying pathomechanism. We propose that extracellular pyrophosphate deficiency may have a causal role in the formation of these mineralized ...
Gergely Bodor, Márta Bocskai, Ágnes Dura, László Kovács, András Váradi, Eszter Kozák   +5 more
wiley   +1 more source

Higher Food and Lifestyle Oxidative Balance Scores Decreases the Risk of Hypertension in Chinese Adults: A Population‐Based Cross‐Sectional Study

The Journal of Clinical Hypertension, Volume 27, Issue 4, April 2025.
ABSTRACT Oxidative stress plays an important role in the development of hypertension (HTN). A population‐based cross‐sectional study was conducted in Fujian province of China. The construction of FoodL‐OBS relied on diet and lifestyle components, which included four food and six lifestyle factors.
Wenxin Qiu, Ying Han, Jingru Huang, Danjing Chen, Jiangwang Fang, Huajing Chang, Xian‐e Peng   +6 more
wiley   +1 more source

Pseudoxanthoma Elasticum (PXE)

, 1970
Pseudoxanthoma elasticum (PXE) Right eye shows angiod streaks with associated hemorrhage. Patient was 25 year old man who developed a right sided carotid cavernous fistula. Anatomy: Retina. Pathology: Pseudoxanthoma elasticum (PXE).
William F. Hoyt, MD
core  

Biological Activity of Biomarkers Associated With Metastasis in Osteosarcoma Cell Lines

Cancer Medicine, Volume 14, Issue 6, March 2025.
Osteosarcoma presents diagnostic and treatment challenges due to its unclear etiology and frequent late‐stage detection. This study aims to identify metastasis biomarkers in osteosarcoma cell lines and biopsies. Through RNA evaluation, a gene functional enrichment analysis of DEGs enabled the identification of interaction networks in osteosarcoma ...
Nidia Ednita Beltrán‐Hernández, Luis Cardenas, Verónica Jimenez‐Jacinto, Leticia Vega‐Alvarado, Heriberto Manuel Rivera   +4 more
wiley   +1 more source

Disease Advocacy Organizations Catalyze Translational Research

Frontiers in Genetics, 2013
Disease advocacy organizations have long played an important role in the continuum from basic science to therapy development in rare disease research. PXE International has sometimes led the field in innovative ways, venturing into specific activities ...
Sharon Fontaine Terry, Sharon Fontaine Terry   +1 more
doaj   +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