{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:28:32Z","timestamp":1747150112082,"version":"3.40.5"},"reference-count":54,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T00:00:00Z","timestamp":1684540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Ultrasound Medicine"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>Fabry disease (FD) is a rare X\u2010linked 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.<\/jats:p><jats:p>The study aims to investigate cerebrovascular phenotype characteristics in FD patients compared to controls using neurosonology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a single\u2010center, cross\u2010sectional study of 130 subjects\u201465 patients (38 females), with genetically confirmed FD, and 65 sex\u2010 and age\u2010matched controls. Using ultrasonography, we measured structural and hemodynamic parameters, including distal common carotid artery intima\u2010media 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In comparison to sex\u2010 and age\u2010matched controls, FD patients displayed significantly increased carotid artery intima\u2010media thickness (observed FD 0.69\u2009\u00b1\u20090.13\u2009mm versus controls 0.63\u2009\u00b1\u20090.12\u2009mm; <jats:italic>P<\/jats:italic><jats:sub>adj<\/jats:sub>\u2009=\u2009.0014), vertebral artery diameter (observed FD 3.59\u2009\u00b1\u20090.35\u2009mm versus controls 3.38\u2009\u00b1\u20090.33\u2009mm; <jats:italic>P<\/jats:italic><jats:sub>adj<\/jats:sub>\u2009=\u2009.0002), middle cerebral artery pulsatility index (observed FD 0.98\u2009\u00b1\u20090.19 versus controls 0.87\u2009\u00b1\u20090.11; <jats:italic>P<\/jats:italic><jats:sub>adj<\/jats:sub>\u2009&lt;\u2009.0001), and significantly decreased CVR (observed FD 1.21\u2009\u00b1\u20090.49 versus controls 1.35\u2009\u00b1\u20090.38; <jats:italic>P<\/jats:italic><jats:sub>adj<\/jats:sub>\u2009=\u2009.0409), when adjusted by age, BMI, and sex. Additionally, FD patients had significantly more variable CVR (0.48\u2009\u00b1\u20090.25 versus 0.21\u2009\u00b1\u20090.14; <jats:italic>P<\/jats:italic><jats:sub>adj<\/jats:sub>\u2009&lt;\u2009.0001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jum.16254","type":"journal-article","created":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T16:43:57Z","timestamp":1684601037000},"page":"2315-2330","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9881-4982","authenticated-orcid":false,"given":"Petra","family":"Rekova","sequence":"first","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Dostalova","sequence":"additional","affiliation":[{"name":"Second Department of Internal\u2014Cardiovascular Medicine, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Rob","sequence":"additional","affiliation":[{"name":"Second Department of Internal\u2014Cardiovascular Medicine, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Vaneckova","sequence":"additional","affiliation":[{"name":"Department of Radiology, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Pavlicova","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Mailman School of Public Health Columbia University Irving Medical Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ales","family":"Linhart","sequence":"additional","affiliation":[{"name":"Second Department of Internal\u2014Cardiovascular Medicine, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech 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