Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.

Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the atrial specific KCNA5 gene have been identified in patients with early-onset lone AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a KCNA5 p.D322H mutation, using a commercially available non-integrating system. The generated iPSCs expressed pluripotency markers and differentiated toward cells belonging to the three embryonic germ layers. Moreover, the cells showed a normal karyotype and retained the p.D322H mutation.

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation.

Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the specific PITX2 gene have been identified in patients with early-onset AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a PITX2 p.M200V mutation, using a commercially available non-integrating expression system. The generated iPSCs expressed pluripotency markers and differentiated toward cells belonging to the three embryonic germ layers. Moreover, the cells showed a normal karyotype and retained the PITX2 p.M200V mutation.

Prediction of abdominal aortic aneurysm calcification by means of variation of high-sensitivity C-reactive protein.

OBJECTIVE: Abdominal aortic aneurysms are a major cause of death in developed countries, and thrombus and calcification of the aneurysm have been linked to increased complications. This study was conducted in order to identify the biochemical marker associated to the presence of intraluminal thrombus or calcification progression of the aneurysm. DESIGN: Several clinical laboratory parameters were measured in patients with abdominal aortic aneurysms, in particular those already demonstrated to be related to the pathology, such as lipoprotein (a), white blood cell count, fibrinogen and high-sensitivity C-reactive protein. Most of the patients were analysed for the presence of thrombus or aorta calcification using CT angiography. RESULTS: Unlike previous findings, we found no association between intraluminal thrombus formation and lipoprotein (a), but we evidenced that patients with lower grade of calcification tend to have higher plasma high-sensitivity C-reactive protein values compared with patients with a higher degree of calcification. Instead, no association was found with either white blood cell count or fibrinogen level. CONCLUSIONS: This study suggests that high-sensitivity C-reactive protein is a useful biomarker to assess the evolution of calcification and could be used in triaging patients to identify those who should undergo a rapid imaging, thus allowing prompt initiation of treatment or rule-out suspicious patients from non-essential imaging repetition.