Vascular Calcification-Induced Cognitive Impairment in Pseudoxanthoma Elasticum

2019 ◽  
Author(s):  
Jonas Bartstra ◽  
W. Spiering ◽  
G. Kranenburg ◽  
L. J. Geurts ◽  
A. M. den Harder ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Vascular Calcification ◽  
Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency

2019 ◽  
Vol 24 (5) ◽  
pp. 461-464 ◽  
Author(s):  
Magali Devriese ◽  
Anne Legrand ◽  
Marie-Cécile Courtois ◽  
Xavier Jeunemaitre ◽  
Juliette Albuisson
Keyword(s):  
Vascular Calcification ◽  
Pseudoxanthoma Elasticum ◽  
Arterial Calcification ◽  
Elastic Fibers ◽  
Connective Tissues ◽  
Tibial Arteries ◽  
Ectopic Mineralization ◽  
Abcc6 Gene ◽  
Next Generation Sequencing Ngs ◽  
Eye Lesions

Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by skin, eye, and cardiovascular lesions due to ectopic mineralization and fragmentation of elastic fibers of connective tissues. We present an atypical case of PXE with diffuse vascular calcification and negligible skin and eye lesions. The patient was a 37-year-old man suffering from severe bilateral arterial calcifications in superficial femoral and posterior tibial arteries. Eye fundoscopy and skin examination were first considered normal. This phenotype suggested first the diagnosis of Arterial Calcification due to Deficiency of CD73 (ACDC) characterized by mutations in NT5E gene. However, we found two variants in ABCC6 gene, and no variant in NT5E. Skin reexamination revealed few lateral skin papules confined to the scalp. Phenotypic overlap was described in vascular calcification disorders, between GACI and PXE phenotypes, and we discuss here expansion of this overlap, including ACDC phenotype. Identification of these expanding and overlapping phenotypes was enabled by genetic screening of the corresponding genes, in a systematic approach. We propose to create a calcification next generation sequencing (NGS) panel with NT5E, GGCX, ENPP1, and ABCC6 genes to improve the molecular diagnosis of vascular calcification.

scholarly journals Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum

2010 ◽  
Vol 88 (5) ◽  
pp. 467-475 ◽  
Author(s):  
Theo G. M. F. Gorgels ◽  
Jan H. Waarsing ◽  
Anneke de Wolf ◽  
Jacoline B. ten Brink ◽  
Willem J. P. Loves ◽  
...  
Keyword(s):  
Mouse Model ◽  
Vascular Calcification ◽  
Pseudoxanthoma Elasticum ◽  
Dietary Magnesium

scholarly journals Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum

2020 ◽  
Vol 9 (5) ◽  
pp. 1393 ◽  
Author(s):  
Antonio Gutierrez-Cardo ◽  
Eugenia Lillo ◽  
Belén Murcia-Casas ◽  
Juan Luis Carrillo-Linares ◽  
Francisco García-Argüello ◽  
...  
Keyword(s):  
Vascular Calcification ◽  
Arterial Wall ◽  
Calcium Score ◽  
Pseudoxanthoma Elasticum ◽  
Short Term ◽  
Radiotracer Uptake ◽  
Positron Emission ◽  
Vessel Walls ◽  
Severity Of The Disease ◽  
Univariate Analyses

Pseudoxanthoma elasticum (PXE) is a genetic disease characterized by the calcification of elastin fibers. Our aim was to quantify vascular calcification in the arteries and the deposition of 18F-sodium-fluoride (18F-NaF) in the skin and vessel walls with positron emission tomography/computed tomography. This was an observational study including 18 patients with PXE. Vascular calcification was measured in Agatston units, and deposition in the skin and vessel walls was shown using target-to-background ratio (TBR). Severity of the disease was scored by Phenodex. We found higher vascular calcification in the popliteal, femoral, and aortic arch vessels compared to other vascular regions; however, the uptake of radiotracer was the highest in the aorta and femoral arteries. In the skin, the highest uptake was observed in the neck and the axillae. There was no significant association between 18F-NaF deposition in the arteries or skin and the global Phenodex score. In contrast, the Phenodex score was significantly associated in univariate analyses with the averaged vascular calcium score (p < 0.01). In the neck, patients with higher skin Phenodex scores exhibited higher radiotracer uptake. As a conclusion, because vascular calcification is physiological, our data suggested that the detection of cutaneous (neck) 18F-NaF deposits might serve to monitor the calcification process in the short-term for patients with PXE.

“Subcortical” cognitive impairment in patients with systemic lupus erythematosus

2000 ◽  
Vol 6 (7) ◽  
pp. 821-825 ◽  
Author(s):  
ELIZABETH LERITZ ◽  
JASON BRANDT ◽  
MELISSA MINOR ◽  
FRANCES REIS-JENSEN ◽  
MICHELLE PETRI
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Cognitive Impairment ◽  
Lupus Erythematosus ◽  
Systemic Lupus

Epigenetic control of TNAP expression in Pseudoxanthoma elasticum fibroblasts

2012 ◽  
Author(s):  
Angela Ostuni ◽  
Vittoria Infantino ◽  
Antonella Salvia ◽  
Rocchina Miglionico ◽  
Federica Boraldi ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Epigenetic Control

Toward Identifying Mild Cognitive Impairment in Hispanic and African American Adults

2017 ◽  
Vol 2 (2) ◽  
pp. 110-116
Author(s):  
Valarie B. Fleming ◽  
Joyce L. Harris
Keyword(s):  
Older Adults ◽  
African American ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Healthcare Access ◽  
Communication Disorders ◽  
Healthcare Systems ◽  
Prevention Education ◽  
Education Management ◽  
African American Adults

Across the breadth of acquired neurogenic communication disorders, mild cognitive impairment (MCI) may go undetected, underreported, and untreated. In addition to stigma and distrust of healthcare systems, other barriers contribute to decreased identification, healthcare access, and service utilization for Hispanic and African American adults with MCI. Speech-language pathologists (SLPs) have significant roles in prevention, education, management, and support of older adults, the population must susceptible to MCI.

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