Maria Boutsikou

Impact of 3 Common ABCA1 Gene Polymorphisms on Optimal vs Non-Optimal Lipid Profile in Greek Young Nurses.

Objective: This study is in line with two previous ones from our group. They evaluated the influence of ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms [such as rs2230806 (R219K), rs2230808 (R1587K) and rs4149313 (I883M)] on the human lipid profile (defined as Optimal and Non-Optimal). Methods: The present study included 447 unrelated young women and men self-reported as being healthy and that attended the University of Nursing of Technological and Educational Institution. All subjects were genotyped and the ABCA1 polymorphisms (R219K, R1587K and I883M) were recorded. According to lipid profile [total cholesterol, triglyceride, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol (LDL-C)] the subjects were separated into those with optimal lipid profile (Optimal Group, n=209) and Non-Optimal Group (n=238). Results: No statistical differences were observed in the distribution of R219K, R1587K and I883M polymorphisms according to the lipid profile (p>0.05 in all cases). No statistical differences were observed in the distribution of R219K, R1587K and I883M polymorphisms according to sex (p>0.05 in all cases). However, Logistic Regression revealed that subjects with RK (R1587K polymorphism) genotype had 69% increased risk on average of having LDL-C above normal limits as compared with those with RR genotype. Similarly, subjects with K allele (R1587K polymorphism) had 59% increased risk on average of having LDL-C above normal limits compared with those with R allele. Conclusion: These findings suggest that R1587K polymorphism of ABCA1 gene may influence the lipid profile. However, this needs to be confirmed by larger studies.

Cholesteryl ester transfer protein and ATP-binding cassette transporter A1 genotype alter the atorvastatin and simvastatin efficacy: time for genotype-guided therapy?

We compared the efficacy of atorvastatin with simvastatin according to cholesteryl ester transfer protein (CETP) and adenosine triphosphate-binding cassette transporter A1 (ABCA1) genes. Patients treated with atorvastatin (n = 254) or simvastatin (n = 332) were genotyped for CETP (TaqIB and I405V) and ABCA1 (R219K) genetic variants. For genotype B1B2, atorvastatin compared with simvastatin treatment resulted in a greater decrease in total cholesterol (35.4% vs 31.6%, P = .035) and a lower increase in high-density lipoprotein cholesterol (2% vs 8%, P = .05). For genotype B2B2, atorvastatin compared with simvastatin treatment resulted in a lower decrease in low-density lipoprotein cholesterol (31.85 vs 42%, P = .029). For genotypes RR and KK, atorvastatin compared with simvastatin treatment resulted in a greater decrease of triglycerides (27% vs 17% and 35% vs 15%, respectively; P = .02 for all comparisons). The TaqIB and R219K (opposite to I405V) gene polymorphisms seem to modify the response to lipid-lowering therapy with simvastatin or atorvastatin treatment.

Acute epigastric and low back pain during amiodarone infusion; is it the drug or the vehicle to blame?

Amiodarone is a Class III antiarrhythmic agent used for cardioversion and prevention of recurrences of atrial fibrillation. However, its use is limited due to its side-effects resulting from the drugs long-term administration. We have described acute epigastric pain following treatment with intravenous amiodarone for atrial fibrillation in a previous report. Hereby, we describe a second patient who suffered acute epigastric pain, as well as one who suffered acute low back pain. Intravenous amiodarone has been related to a series of minor and major adverse reactions, indicating other constituents of the intravenous solution as the possible cause, possibly polysorbate-80. A possible correlation between acute epigastric and low back pain after intravenous amiodarone loading is unproven; however it is of crucial importance for clinicians to be aware of this phenomenon, and especially since an acute epigastric pain is implicated in the differential diagnosis of cardiac ischemia.

Balloon Valvuloplasty for Bioprosthetic Tricuspid Valve Stenosis

A 73-year-old woman was admitted to our hospital for a scheduled percutaneous transcatheter balloon valvuloplasty of a stenotic tricuspid bioprosthesis. The patient had a history consistent with exertional dyspnea, abdominal distension, and edema of the lower extremities resistant to diuretic treatment over the previous few months. Forty-three years prior, she underwent aortic valve replacement with a Starr-Edwards mechanical prosthetic valve, with a mean pressure gradient of 25 mm Hg, for aortic stenosis of rheumatic etiology (Fig. 1, white arrow). Furthermore, three years after aortic valve replacement the patient underwent mitral valve replacement with a bileaflet mechanical valve for mitral stenosis which had a stenotic portion (mean pressure gradient 10 mm Hg) (Fig. 1, black arrow), and tricuspid valve replacement with a Carpentier-Edwards bioprosthesis for tricuspid stenosis (Fig. 1, yellow arrow). On admission, the patient was on atrial fibrillation and physical examination was compatible with right heart failure. Echocardiography demonstrated severe tricuspid stenosis and a mild regurgitation. The mean diastolic gradient across the tricuspid valve was 15.4 mm Hg (Fig. 2A and B). Therefore, we proceeded to percutaneous valvuloplasty of the tricuspid valve using fluoroscopy, under regional anesthesia and sedation, inflating a 15×40-mm Inoue balloon up to a pressure of 15 atm (Fig. 1B).1),2) According to hemodynamic measurements, the gradient across the bioprosthetic tricuspid valve dropped from 13.0 mm Hg before to 6.0 mm Hg after dilation (Fig. 3), and on repeat echocardiography the mean diastolic gradient was decreased to 7.2 mm Hg without worsening of the regurgitation (Fig. 2C and D). The patients symptoms soon improved; however, two months later she experienced a massive pulmonary hemorrhage while on heparin and acenocoumarol within therapeutic range, and died after a long hospitalization in the intensive care unit. Fig. 1 Fig. 2 Fig. 3

Effect of ATP-binding Cassette Transporter A1 (ABCA1) Gene Polymorphisms on Plasma Lipid Variables and Common Demographic Parameters in Greek Nurses.

Objective: The present study is on line with our previous studies evaluating the influence of ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms on the lipid variables of Greek student-nurses. The current study was undertaken to (1) estimate the influence of variant(s) such as rs2066715 (V825I), R219K, R1587K, I883M of ABCA1 gene on lipid variables and (2) evaluate the effect of all four ABCA1 polymorphisms on common demographic parameters. Methods: The study population involved 432 unrelated nurses (86 men) who were genotyped for ABCA1 polymorphisms and correlated according to lipid variables [total cholesterol (TC), triglycerides (TGs), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and apolipoprotein (apo) A] and demographic parameters (age, gender, BMI, waist circumference). Results: According to lipid variables concentration there was no difference between genotypes and alleles of V825I, R219K and I883M polymorphisms. The LDL-C concentration was 13% lower in RR compared with RK genotype (100.7 vs. 113.9 mg/dl, p=0.013) of R1587K gene polymorphism. In regression analysis the effects of age, gender and only R1587K gene polymorphism on LDL-C concentrations were proved significant. Additionally, LDL-C was increased (by 1.29 mg/dl on average) by every year of increase of age. Moreover, females had lower LDL-C concentrations as compared with males. Conclusion: Findings suggested that only R1587K polymorphism of ABCA1 gene was associated with lipid variables, age, and gender of Greek nurses. These findings may be helpful in assessing the risk factors for premature coronary heart disease and distinct individuals with lower/higher atherosclerotic burden.

Severe/Extreme Hypertriglyceridemia and LDL Apheretic Treatment: Review of the Literature, Original Findings

Hypertriglyceridemia (HTG) is a feature of numerous metabolic disorders including dyslipidemias, metabolic syndrome, and diabetes mellitus type 2 and can increase the risk of premature coronary artery disease. HTG may also be due to genetic factors (called primary HTG) and particularly the severe/extreme HTG (SEHTG), which is a usually rare genetic disorder. Even rarer are secondary cases of SEHTG caused by autoimmune disease. This review considers the causes of SEHTG, and their management including treatment with low density lipoprotein apheresis and analyzes the original findings.

Five gene variants in nonagenarians, centenarians and average individuals

Introduction Genetic factors contribute to the variation of human life span which is believed to be more profound after 85 years of age. The aim of the present study was to evaluate the frequency of 5 gene polymorphisms between nonagenarians, centenarians and average individuals. Material and methods Single nucleotide polymorphisms (SNPs) of telomerase reverse transcriptase (TERT; rs2736098), insulin-like growth factor-1 binding protein-3 (IGFBP3; A-202C, rs2857744), fork-head box O3A (FOXO3A; rs13217795 and rs2764264) factor and adiponectin (ADIPOQ; rs2241766) were evaluated in 405 individuals: n = 256 nonagenarians and centenarians (study group) and n = 149 average lifespan individuals (control group aged 18 – < 80 years). Results The frequency of women was significantly higher in the study group than the control group (64.5 vs. 49.7%, p = 0.004). Genotypic and allele frequencies did not differ between groups according to gender. However, in men, the frequency of TT genotype of FOXO3A; rs2764264 was higher in the study group than the control group (45.6 vs. 28.0%, p = 0.05). Overall, the frequency of the C allele of FOXO3A; rs2764264 was significantly lower in the study group than the control group (3.9 vs. 9.5%, respectively, p = 0.023). Furthermore, in the study group, the T allele was significantly more frequent in the nonagenarians (n = 239) than the centenarians (n = 17) in both FOXO3A; rs13217795 and rs2764264 (64.4 vs. 44.1%, p = 0.018 and 69.7 vs. 50.0%, p = 0.017, respectively). Conclusions According to survival status, there is differentiation in the prevalence of both studied FOXO3A gene polymorphisms. The study group had half of the C alleles compared with the control group and centenarians less frequently had the T allele of both FOXO3A gene polymorphisms compared with nonagenarians. No difference was found between groups according to TERT, IGFBP3 and ADIPOQ gene polymorphisms. It seems that some polymorphisms may be significant in prolonging our lifespan. Nevertheless, confirmation in additional study populations is needed.

Heart Score Estimation by Specialized Nurses in a Greek Urban Population

AIMS Specialized nurses estimated the HeartScore in an urban Greek population by recognizing cardiovascular disease (CVD) risk factors in the setting of the Onassis Cardiovascular Prevention Program (OCPP). They also provided nursing consultation and assessed the clinical and biochemical characteristics of the studied population. METHODS AND RESULTS Individuals were recruited through TV announcements and via the website of the Onassis Cardiac Surgery Centre. All participants visited the Onassis Cardiac Centre from 20 September to 30 October 2011. Overall, 2,145 individuals were included in the study. CVD risk was calculated by the HeartScore and serum total cholesterol was measured (mean: 193±43 mg/dl). Although 33% of the participants reported dyslipidaemia, only 17% were on hypolipidaemic treatment. Hypertension and dyslipidaemia frequency increased with age. CONCLUSION In the present study, specialized nurses estimated the HeartScore in a Greek urban population. The majority of the studied population was undiagnosed and untreated. These results highlight the necessity for both primary and secondary prevention programs that can be carried out by specialized nurses. Such programs may improve the diagnosis and treatment of CVD risk factors; early initiation and optimization of therapy as well as management of drug intolerance (e.g. statins) can contribute to CVD risk reduction.