We used a comprehensive approach to study the endothelial-function with physiological and laboratory assessments. All tests were performed blinded to mutation status:
1. The Endo-PAT2000 (Itamar Medical Ltd, Keisariya, Israel) - Endo-PAT2000 is a non-invasive device that measures changes in PAT (Peripheral Arterial Tone) before and after hyperemic response (occluding blood flow through the brachial artery for 5 minutes using an inflatable cuff) [41 ]. PAT change ratio is normalized to measurements from the contra-lateral arm, which serves as control for non-endothelial dependent systemic effects. The normalized value is termed reactive hyperemia index (RHI) [42 (link)]. RHI measure was shown to reflect NO-bioavailability and to correlate with endothelial vasodilator function in coronary artery [43 (link), 44 (link)]. RHI value is reduced in patients with established cardiovascular disease and considered to be a predictor for cardiovascular clinical outcomes [45 , 46 (link)].
2. Endothelial Progenitor Cells (EPCs) - are early stem cells that play an important role in the regeneration of the endothelial lining of blood vessels.
1. The Endo-PAT2000 (Itamar Medical Ltd, Keisariya, Israel) - Endo-PAT2000 is a non-invasive device that measures changes in PAT (Peripheral Arterial Tone) before and after hyperemic response (occluding blood flow through the brachial artery for 5 minutes using an inflatable cuff) [41 ]. PAT change ratio is normalized to measurements from the contra-lateral arm, which serves as control for non-endothelial dependent systemic effects. The normalized value is termed reactive hyperemia index (RHI) [42 (link)]. RHI measure was shown to reflect NO-bioavailability and to correlate with endothelial vasodilator function in coronary artery [43 (link), 44 (link)]. RHI value is reduced in patients with established cardiovascular disease and considered to be a predictor for cardiovascular clinical outcomes [45 , 46 (link)].
2. Endothelial Progenitor Cells (EPCs) - are early stem cells that play an important role in the regeneration of the endothelial lining of blood vessels.
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