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Article ; Online: Reply to: "six months vitamin K treatment does not affect systemic arterial calcification or bone mineral density in diabetes mellitus 2".

Bartstra, Jonas W / de Jong, Pim A / Beulens, Joline W J

2021 Volume 60, Issue 3, Page(s) 1703–1704

MeSH term(s)	Arteries ; Bone Density ; Calcification, Physiologic ; Diabetes Mellitus ; Humans ; Vitamin K
Chemical Substances	Vitamin K (12001-79-5)
Language	English
Publishing date	2021-02-09
Publishing country	Germany
Document type	Letter ; Comment
ZDB-ID	1466536-0
ISSN	1436-6215 ; 1436-6207
ISSN (online)	1436-6215
ISSN	1436-6207
DOI	10.1007/s00394-020-02470-3
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Article ; Online: Do pseudoxanthoma elasticum patients have higher prevalence of kidney stones on computed tomography compared to hospital controls?

Harmsen, Iris M / Kok, Madeleine / Bartstra, Jonas W / de Jong, Pim A / Spiering, Wilko / Foppen, Wouter

Clinical and experimental nephrology

2023 Volume 28, Issue 1, Page(s) 75–79

Abstract: Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by diminished inorganic plasma pyrophosphate (PPi), a strong calcification inhibitor. In addition to more typical calcification of skin, retina and arterial wall ... ...

Abstract	Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by diminished inorganic plasma pyrophosphate (PPi), a strong calcification inhibitor. In addition to more typical calcification of skin, retina and arterial wall a diminished plasma PPi could lead to other ectopic calcification, such as formation of kidney stones. Objective: To compare the prevalence of kidney stones between PXE patients and hospital controls on computed tomography (CT). Method: Low-dose CT images of PXE patients and controls were assessed by one radiologist, who was blinded for the diagnosis PXE. The number of kidney stones, and the size of the largest stone was recorded. Odds ratios (ORs) for having kidney stone were calculated using multivariable adjusted logistic regression. Results: Our study comprised 273 PXE patients and 125 controls. The mean age of PXE patients was 51.5 ± 15.9 years compared to 54.9 ± 14.2 in the control group (p = 0.04) and PXE patients more often were women (63 vs. 50%, p = 0.013). The prevalence of kidney stones on CT was similar: 6.9% in PXE patients, compared to 5.6% in controls (p = 0.6). In the multivariate analysis adjusting for age and sex, there was no significantly higher odds for PXE patients on having stones, compared to controls: OR 1.48 (95% CI 0.62-3.96). Conclusion: There is no significant difference in the prevalence of incidental kidney stones on CT in PXE patients versus controls.
MeSH term(s)	Humans ; Female ; Adult ; Middle Aged ; Aged ; Male ; Pseudoxanthoma Elasticum/diagnostic imaging ; Pseudoxanthoma Elasticum/epidemiology ; Prevalence ; Skin ; Tomography, X-Ray Computed/methods ; Kidney Calculi/diagnostic imaging ; Kidney Calculi/epidemiology
Language	English
Publishing date	2023-10-14
Publishing country	Japan
Document type	Journal Article
ZDB-ID	1338768-6
ISSN	1437-7799 ; 1342-1751
ISSN (online)	1437-7799
ISSN	1342-1751
DOI	10.1007/s10157-023-02405-2
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Article ; Online: Accelerated peripheral vascular aging in pseudoxanthoma elasticum - proof of concept for arterial calcification-induced cardiovascular disease.

Bartstra, Jonas W / de Jong, Pim A / Spiering, Wilko

Aging

2019 Volume 11, Issue 3, Page(s) 1062–1064

MeSH term(s)	Humans ; Pseudoxanthoma Elasticum/physiopathology ; Vascular Calcification
Language	English
Publishing date	2019-02-08
Publishing country	United States
Document type	Journal Article
ISSN	1945-4589
ISSN (online)	1945-4589
DOI	10.18632/aging.101821
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Article ; Online: Abdominal aortic calcification: from ancient friend to modern foe.

Bartstra, Jonas W / Mali, Willem P Th M / Spiering, Wilko / de Jong, Pim A

European journal of preventive cardiology

2020 Volume 28, Issue 12, Page(s) 1386–1391

Abstract: Background: Abdominal aortic calcifications were already ubiquitous in ancient populations from all continents. Although nowadays generally considered as an innocent end stage of stabilised atherosclerotic plaques, increasing evidence suggests that ... ...

Abstract	Background: Abdominal aortic calcifications were already ubiquitous in ancient populations from all continents. Although nowadays generally considered as an innocent end stage of stabilised atherosclerotic plaques, increasing evidence suggests that arterial calcifications contribute to cardiovascular risk. In this review we address abdominal aortic calcification from an evolutionary perspective and review the literature on histology, prevalence, risk factors, clinical outcomes and pharmacological interventions of abdominal aortic calcification. Design: The design of this study was based on a literature review. Methods: Pubmed and Embase were systematically searched for articles on abdominal aortic calcification and its synonyms without language restrictions. Articles with data on histology, prevalence, risk factors clinical outcomes and/or pharmacological interventions were selected. Results: Abdominal aortic calcification is highly prevalent in the general population and prevalence and extent increase with age. Prevalence and risk factors differ between males and females and different ethnicities. Risk factors include traditional cardiovascular risk factors and decreased bone mineral density. Abdominal aortic calcification is shown to contribute to arterial stiffness and is a strong predictor of cardiovascular events and mortality. Several therapies to inhibit arterial calcification have been developed and investigated in small clinical trials. Conclusions: Abdominal aortic calcification is from all eras and increasingly acknowledged as an independent contributor to cardiovascular disease. Large studies with long follow-up must be carried out to show whether inhibition of abdominal aortic calcification will further reduce cardiovascular risk.
MeSH term(s)	Aortic Diseases/epidemiology ; Cardiovascular Diseases/complications ; Female ; Friends ; Humans ; Male ; Prevalence ; Risk Factors ; Vascular Calcification/diagnostic imaging ; Vascular Calcification/epidemiology
Language	English
Publishing date	2020-04-28
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2626011-6
ISSN	2047-4881 ; 2047-4873
ISSN (online)	2047-4881
ISSN	2047-4873
DOI	10.1177/2047487320919895
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Article: Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.

Kozák, Eszter / Bartstra, Jonas W / de Jong, Pim A / Mali, Willem P T M / Fülöp, Krisztina / Tőkési, Natália / Pomozi, Viola / Risseeuw, Sara / Norel, Jeannette Ossewaarde-van / van Leeuwen, Redmer / Váradi, András / Spiering, Wilko

Journal of clinical medicine

2023 Volume 12, Issue 3

Abstract: Background: Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene, and is associated with low plasma inorganic pyrophosphate (PP: ... ...

Abstract	Background: Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene, and is associated with low plasma inorganic pyrophosphate (PP Methods: We studied the association of ABCC6 genotype (192 patients with biallelic pathogenic ABCC6 mutations) and PP Results: Our findings confirm low PP Conclusions: Our data suggest that the relationship between ABCC6 mutations and reduced plasma PP
Language	English
Publishing date	2023-01-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12031047
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Article ; Online: Romosozumab Treatment in Postmenopausal Osteoporosis.

Kranenburg, Guido / Bartstra, Jonas W / de Jong, Pim A

The New England journal of medicine

2017 Volume 376, Issue 4, Page(s) 396

MeSH term(s)	Bone Density ; Bone Density Conservation Agents/therapeutic use ; Humans ; Osteoporosis/drug therapy ; Osteoporosis, Postmenopausal/drug therapy
Chemical Substances	Bone Density Conservation Agents
Language	English
Publishing date	2017--26
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMc1615367
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Article ; Online: Intracranial atherosclerosis in pseudoxanthoma elasticum: A case-control study.

Lucci, Carlo / van den Beukel, Tim C / Bartstra, Jonas W / Zwanenburg, Jaco / van der Kolk, Anja / Takx, Richard / Hendrikse, Jeroen / Geerlings, Mirjam I / Bos, Daniel / Spiering, Wilko / de Jong, Pim A

Atherosclerosis

2022 Volume 350, Page(s) 19–24

Abstract: Background and aims: Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by systemic calcification of elastin fibers. Additionally, PXE is associated with an increased risk of stroke. It has been hypothesized that this may be caused by ... ...

Abstract	Background and aims: Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by systemic calcification of elastin fibers. Additionally, PXE is associated with an increased risk of stroke. It has been hypothesized that this may be caused by accelerated (intracranial) atherogenesis, as a consequence of specific genetic mutations underlying PXE. Hence, we compared the distribution and burden of intracranial atherosclerosis between PXE patients and healthy controls. Methods: Fifty PXE patients and 40 age-and-sex-matched healthy controls (without previous ischemic cerebrovascular disease) underwent 3T MRI to visualize atherosclerotic intracranial vessel wall lesions (VWLs). We compared the presence and burden of VWLs (total and for the anterior cerebral, middle cerebral, intracranial internal carotid, posterior cerebral, and basilar arteries separately) between PXE patients and healthy controls using logistic (presence versus absence) and negative binomial regression models (VWL count) adjusted for relevant confounders. All regressions included group (PXE patients vs. healthy controls) as independent variable. Results: We found that 34 (68.0%) PXE patients and 28 (70.0%) healthy controls had a VWL (odds ratio for presence 1.06 [95%CI 0.38-2.91]). In addition, the total burden of VWLs was similar between PXE patients (68 VWLs) and healthy controls (73 VWLs, incidence rate ratio for count 0.81 [95%CI 0.55-1.20]). Findings were similar when analyses were stratified for artery. Conclusions: The distribution and burden of intracranial atherosclerosis were similar between PXE patients and healthy controls. This implies PXE and its underlying mutations do not involve increased (intracranial) atherogenesis and that vascular calcification or other mechanisms explains the increased stroke risk in PXE.
MeSH term(s)	Atherosclerosis/complications ; Case-Control Studies ; Humans ; Intracranial Arteriosclerosis/complications ; Intracranial Arteriosclerosis/diagnostic imaging ; Intracranial Arteriosclerosis/epidemiology ; Pseudoxanthoma Elasticum/complications ; Pseudoxanthoma Elasticum/diagnosis ; Pseudoxanthoma Elasticum/genetics ; Stroke/complications ; Vascular Calcification/complications
Language	English
Publishing date	2022-04-15
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	80061-2
ISSN	1879-1484 ; 0021-9150
ISSN (online)	1879-1484
ISSN	0021-9150
DOI	10.1016/j.atherosclerosis.2022.04.014
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Article: Increased Elastin Degradation in Pseudoxanthoma Elasticum Is Associated with Peripheral Arterial Disease Independent of Calcification.

Bartstra, Jonas W / Spiering, Wilko / van den Ouweland, Jody M W / Mali, Willem P T M / Janssen, Rob / de Jong, Pim A

Journal of clinical medicine

2020 Volume 9, Issue 9

Abstract: Pseudoxanthoma elasticum (PXE) results in extensive fragmentation and calcification of elastin fibers in the peripheral arteries, which results in peripheral arterial disease (PAD). Current research focuses on the role of calcifications in the ... ...

Abstract	Pseudoxanthoma elasticum (PXE) results in extensive fragmentation and calcification of elastin fibers in the peripheral arteries, which results in peripheral arterial disease (PAD). Current research focuses on the role of calcifications in the pathogenesis of PXE. Elastin degradation and calcification are shown to interact and may amplify each other. This study aims to compare plasma desmosines, a measure of elastin degradation, between PXE patients and controls and to investigate the association between desmosines and (1) arterial calcification, (2) PAD, and (3) PAD independent of arterial calcification in PXE. Plasma desmosines were quantified with liquid chromatography-tandem mass spectrometry in 93 PXE patients and 72 controls. In PXE patients, arterial calcification mass was quantified on CT scans. The ankle brachial index (ABI) after treadmill test was used to analyze PAD, defined as ABI < 0.9, and the Fontaine classification was used to distinguish symptomatic and asymptomatic PAD. Regression models were built to test the association between desmosines and arterial calcification and arterial functioning in PXE. PXE patients had higher desmosines than controls (350 (290-410) ng/L vs. 320 (280-360) ng/L,
Language	English
Publishing date	2020-08-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm9092771
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Article: Osteoarthritis in Pseudoxanthoma Elasticum Patients: An Explorative Imaging Study.

Gielis, Willem Paul / de Jong, Pim A / Bartstra, Jonas W / Foppen, Wouter / Spiering, Wilko / den Harder, Annemarie M

Journal of clinical medicine

2020 Volume 9, Issue 12

Abstract: Pseudoxanthoma elasticum (PXE) is a systemic disease affecting the skin, eyes, and cardiovascular system of patients. Cardiovascular disease is associated with osteoarthritis (OA), which is the most common cause of joint pain. There is a lack of ... ...

Abstract	Pseudoxanthoma elasticum (PXE) is a systemic disease affecting the skin, eyes, and cardiovascular system of patients. Cardiovascular disease is associated with osteoarthritis (OA), which is the most common cause of joint pain. There is a lack of systematic investigations on joint manifestations in PXE in the literature. In this explorative study, we aimed to investigate whether patients with PXE are more at risk for developing osseous signs of OA. Patients with PXE and hospital controls with whole-body low-dose CT examinations available were included. OA was assessed using the OsteoArthritis Computed Tomography (OACT)-score, which is a 4-point Likert scale, in the acromioclavicular (AC), glenohumeral (GH), facet, hip, knee, and ankle joints. Additionally, intervertebral disc degeneration was scored. Data were analyzed using ordinal logistic regression adjusted for age, body mass index (BMI), and smoking status. In total, 106 PXE patients (age 56 (48-64), 42% males, BMI 25.3 (22.7-28.2)) and 87 hospital controls (age 55 (43-67), 46% males, BMI 26.0 (22.5-29.2)) were included. PXE patients were more likely to have a higher OA score for the AC joints (OR 2.00 (1.12-3.61)), tibiofemoral joint (OR 2.63 (1.40-5.07)), and patellofemoral joint (2.22 (1.18-4.24)). For the other joints, the prevalence and severity of OA did not differ significantly. This study suggests that patients with PXE are more likely to have structural OA of the knee and AC joints, which needs clinical confirmation in larger groups and further investigation into the mechanism.
Language	English
Publishing date	2020-12-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm9123898
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Article ; Online: An elevated ankle-brachial index is not a valid proxy for peripheral medial arterial calcification.

Hoek, Anna G / Zwakenberg, Sabine R / Elders, Petra J M / de Jong, Pim A / Spiering, Wilko / Bartstra, Jonas W / Doesburg, Teddo / van der Heijden, Amber A / van der Schouw, Yvonne T / Beulens, Joline W J

Atherosclerosis

2021 Volume 323, Page(s) 13–19

Abstract: Background and aims: The ankle brachial index (ABI) is often used as a proxy for medial arterial calcification (MAC) in studies investigating MAC as a cardiovascular risk factor, but evidence supporting this hypothesis is sparse. This study aims to ... ...

Abstract	Background and aims: The ankle brachial index (ABI) is often used as a proxy for medial arterial calcification (MAC) in studies investigating MAC as a cardiovascular risk factor, but evidence supporting this hypothesis is sparse. This study aims to investigate the use of an elevated ABI as proxy for MAC, as visualized with computed tomography (CT). Methods: Cross-sectional data of 718 participants with, or at risk of cardiovascular disease was used. The ABI was calculated using cutoffs >1.4 and > 1.3. The presence of MAC was assessed in the crural and femoral arteries by CT imaging. Modified Poisson regression was used to assess the association between an elevated ABI and the presence of MAC, and test characteristics were calculated. Results: MAC was found in 25.0% of participants. An ABI >1.4 was found in 8.7% of participants, of whom 45.2% had MAC. An elevated ABI was significantly associated with the presence of MAC (RR 1.74, CI: 1.26-2.40). However, poor positive specific agreement (23.3%, CI: 13.9-34.3), sensitivity (15.7%, CI: 10.4-21.1) and positive predictive value (45.2%, CI: 32.8-57.5) were found. Despite good specificity (93.6%, CI: 91.6-95.7) the area under the receiving operator curve remained poor (54.7%, CI: 51.8-57.6). Negative specific agreement (84.5%, CI: 81.4-87.0) and negative predictive value (77.0%, CI: 73.7-80.2) were acceptable. Conclusions: An elevated ABI is insufficient to serve as a true diagnostic proxy for MAC. Studies that have drawn conclusions on the association between MAC and cardiovascular disease, solely based on the ABI, are likely to underestimate the found effects.
MeSH term(s)	Ankle Brachial Index ; Arteriosclerosis ; Cross-Sectional Studies ; Femoral Artery ; Humans ; Peripheral Arterial Disease/diagnostic imaging ; Peripheral Arterial Disease/epidemiology ; Predictive Value of Tests ; Risk Factors
Language	English
Publishing date	2021-03-13
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80061-2
ISSN	1879-1484 ; 0021-9150
ISSN (online)	1879-1484
ISSN	0021-9150
DOI	10.1016/j.atherosclerosis.2021.03.010
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