Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F23%3A10466010" target="_blank" >RIV/00064165:_____/23:10466010 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/23:10466010
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pIs1v7CxqN" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pIs1v7CxqN</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/jum.16254" target="_blank" >10.1002/jum.16254</a>
Alternative languages
Result language
angličtina
Original language name
Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound
Original language description
Objectives: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcranial vascular sonography is an effective and noninvasive method for measuring arterial structures and blood flow. The study aims to investigate cerebrovascular phenotype characteristics in FD patients compared to controls using neurosonology. Methods: This is a single-center, cross-sectional study of 130 subjects-65 patients (38 females), with genetically confirmed FD, and 65 sex- and age-matched controls. Using ultrasonography, we measured structural and hemodynamic parameters, including distal common carotid artery intima-media thickness, inner vertebral artery diameter, resting blood flow velocity, pulsatility index, and cerebral vasoreactivity (CVR) in the middle cerebral artery. To assess differences between FD and controls and to identify factors influencing investigated outcomes, unadjusted and adjusted regression analyses were performed. Results: In comparison to sex- and age-matched controls, FD patients displayed significantly increased carotid artery intima-media thickness (observed FD 0.69 +- 0.13 mm versus controls 0.63 +- 0.12 mm; Padj = .0014), vertebral artery diameter (observed FD 3.59 +- 0.35 mm versus controls 3.38 +- 0.33 mm; Padj = .0002), middle cerebral artery pulsatility index (observed FD 0.98 +- 0.19 versus controls 0.87 +- 0.11; Padj < .0001), and significantly decreased CVR (observed FD 1.21 +- 0.49 versus controls 1.35 +- 0.38; Padj = .0409), when adjusted by age, BMI, and sex. Additionally, FD patients had significantly more variable CVR (0.48 +- 0.25 versus 0.21 +- 0.14; Padj < .0001). Conclusions: Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/LX22NPO5107" target="_blank" >LX22NPO5107: National institute for Neurological Research</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Ultrasound in Medicine
ISSN
0278-4297
e-ISSN
1550-9613
Volume of the periodical
42
Issue of the periodical within the volume
10
Country of publishing house
US - UNITED STATES
Number of pages
16
Pages from-to
2315-2330
UT code for WoS article
000993186100001
EID of the result in the Scopus database
2-s2.0-85159645731