Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the –α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling

Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α⁺-thalassemia (α⁺-thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (–α^3.7) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.     

Comparative study of ECG and echocardiographic parameters indicative of cardiac hypertrophy in athletes

The identification of left ventricular hypertrophy (LVH) through electrocardiographic voltage criteria has been widely studied in patients. However, their validity in “athlete’s heart” remains quite unknown. The aim of this study was to evaluate the most common electrocardiographic indices indicative of LVH compared to the known echocardiographic ones in athletes. The study group comprised 150 male adult competitive athletes (group A) and 50 sedentary participants (group B). Thirteen accepted electrocardiographic voltage criteria indicative of LVH were calculated and correlated with the common echocardiographic indices of left ventricular mass (LVM). Nine of the 13 ECG voltage criteria were significantly increased in athletes compared to controls. Statistically, the Sokolow–Lyon index, which is the most commonly used voltage index was found to be affected by the body mass index (10.7 %, p < 0.05), the group (7.3 %, p < 0.05) and systolic blood pressure (4.5 %, p < 0.05) in total variance of 16.6 % (p < 0.05). No electrocardiographic voltage criterion was significantly correlated with any echocardiographic index, except for the Cornell index that was correlated with end-diastolic volume index (r = 0.29, p < 0.05) and the Sokolow index (V6) with LVMI (r = 0.26, p < 0.05) in group A. We suggested that ECG voltage indices should not be considered valid when assessing LVH in athletes. Thus, the echocardiographic study is preferable in studying training-induced structural cardiac changes.     

Apolipoprotein E and Paraoxonase 1 polymorphisms are associated with lower serum thyroid hormones in postmenopausal women

Objective  Autoimmune thyroiditis and overt or subclinical hypothyroidism have been associated with increased prevalence of cardiovascular disease (CVD).
Design  Cross-sectional investigation of the association between gene polymorphisms related to CVD with thyroid function and autoimmunity.
Patients  In total 84 healthy postmenopausal women aged 49–69 years.
Measurements  FT3, FT4, anti-TPO and anti-TG were assessed in the sera of participants. The following polymorphisms were assessed from peripheral lymphocyte DNA: Apolipoprotein E E2/E3/E4, paraoxonase 1 A/B, Glycoprotein IIIa leu33pro, MTHFR ala222val, ApoBarg3500gln, plasminogen activator inhibitor 1 4G/5G, cholesterol 7-α hydroxylase A204C and cholesterol ester transfer protein B1/B2.
Results  A statistically significant correlation was found between Apolipoprotein E and paraoxonase1 polymorphisms and serum thyroid hormones: carriers of the E2 or E4 allele of the ApoE gene had lower levels of FT4 ( P  = 0·0005) than women with the E3/E3 genotype. Carriers of the B allele of paraoxonase 1 gene had lower levels of FT3 compared to women with the wild-type genotype ( P =  0·047). A statistically significant positive association ( P =  0·049) was also observed between anti-TG antibodies and the presence of the E2 allele of the Apolipoprotein E gene.
Conclusions  Polymorphisms of apolipoprotein E and paraoxonase 1 are associated with different levels of thyroid hormone and anti-Tg antibody levels in the study population in this pilot study. The mechanism underlying this association remains to be elucidated.     

Prognostic factors in patients with colorectal cancer receiving adjuvant chemotherapy or chemoradiotherapy: a pooled analysis of two randomized studies

Background. Although the TNM system is useful in predicting survival in resected colorectal cancer, heterogeneity within the same stages regarding prognosis exists. We are presenting a pooled analysis of prognostic factors from two randomized studies of adjuvant treatment conducted by the Hellenic Cooperative Oncology Group. Patients and Methods. Patients with stage II or III colon (n=279) or rectal (n=220) cancer were included in this analysis. Following surgery, patients received: 5-fluorouracil/leucovorin (5-FU/LV) (n=135), 5-FU/LV and interferon Alfa-2a (IFNA-2a) (n=138), 5-FU/LV and pelvic chemoradiotherapy (n=106), and pelvic chemoradiotherapy alone (n=108). Results. Median follow up was 92 mo. The number of involved lymph nodes (LNs), tumor differentiation, and the presence of regional implants were independent prognostic factors for both OS and TTP, while nerve invasion was only significant for TTP. Patients were stratified into three prognostic groups (low-risk: no LNs and grade 1/2; high-risk: >3 LNs and grade 3/4; intermediate-risk: remaining patients) with distinct differences in 5-yr survival (84.7% vs 57.6% vs 32.4%) and 5-yr TTP (81.2% vs 54.5% vs 28.6%). Conclusion. The combination of clinicopathological prognostic factors can be more informative than the traditional TNM staging system. Such stratification may be necessary in randomized trials and could be useful in deciding the most appropriate adjuvant treatment strategies.     

Correlation between myocardial enzyme serum levels and markers of inflammation with severity of coronary artery disease and Gensini score: A hospital-based,prospective study in Greek patients

Background

Our objective was to associate serum levels of myocardial enzymes and inflammatory biomarkers with severity of coronary artery disease (CAD).

Patients and methods

123 patients participated in our study, including 65 cases of acute myocardial infarction (MI), 27 cases of newly diagnosed CAD – without MI – and 31 controls. In all subjects, myocardial serum enzyme levels (creatine phosphokinase, aspartate aminotransferase, lactate dehydrogenase) and inflammatory indices (C-reactive protein, fibrinogen, white blood cells, and erythrocyte sedimentation rate) were measured. Patients were all submitted to coronary angiography and CAD severity was evaluated by Gensini score.

Results

Significant differences concerning enzyme serum levels and inflammatory indices were found to exist between the three study groups, being highest among patients with acute MI (p < 0.001). A significant association was demonstrated between Gensini score and serum enzyme levels as well as inflammatory biomarkers.

Conclusions

Our findings suggest that serum levels of myocardial enzymes and inflammatory indices correlate with CAD severity in Greek patients.     

Hyperlipidemia prevents the expected reduction of myocardial ischemia on repeated balloon inflations during angioplasty

BACKGROUND: Controversy exists regarding inhibition of ischemic preconditioning in hyperlipidemic animals. In this study, we tested the hypothesis that hyperlipidemia inhibits the normal reduction of myocardial ischemia on repeated balloon inflations (BIs) during angioplasty. METHODS: We studied 33 patients undergoing coronary angioplasty. All underwent a minimum of three BIs. Patients were grouped according to the following plasma cholesterol levels: 13 patients had total cholesterol levels < 200 mg/dL (the normal cholesterol group); and 20 patients had total cholesterol levels > or = 200 mg/dL (the elevated cholesterol group). Surface ST-segment elevations were recorded at the end of each BI. RESULTS: In the normal cholesterol group, the mean (+/- SD) ST-segment elevation decreased from 0.21 +/- 0.15 mV during the first BI to 0.11 +/- 0.11 mV during the third BI (p < 0.05). In the elevated cholesterol group, the respective decrease was from 0.18 +/- 0.16 to 0.14 +/- 0.15 mV (p = not significant) [between-group comparisons: F = 3.97; p = 0.02]. The decrease in ST-segment elevation was correlated with the total cholesterol levels (r = -0.48; p = 0.005), the low-density lipoprotein (LDL) cholesterol levels (r = -0.50; p = 0.003), and the high-density lipoprotein/LDL levels (r = 0.44; p = 0.01). CONCLUSION: Hyperlipidemia prevents the normal reduction of myocardial ischemia on repeated BIs during angioplasty. This leads to the clinical implication that reduction of cholesterol plasma levels, apart from its other known benefits, could also have a beneficial effect on cardioprotection.     

Radiofrequency Catheter Ablation of Posteroseptal Accessory Pathways–Results of a Step-by-Step Ablation Approach

Introduction: Transcatheter radiofrequency ablation of posteroseptal accessory pathways (AP) is challenging. A number of different interventional approaches have been suggested by different groups. The selection of the initial approach is crucial in order to reduce radiation exposure and the number of unsuccessful lesions applied. We present our ablation technique as guided by a simplified electrocardiographic analysis of the delta wave polarity and the electrophysiologic mapping results. Methods and Results: Out of 35 manifest APs encountered in the right (n=17) or the left posteroseptum (n=18) in 35 patients, 34 were successfully ablated. Despite their left sided location, 7 of the 18 left sided APs were ablated after switching from an initial arterial to a venous approach looking for an appropriate target site in the right posteroseptal space or within the coronary sinus network. The other 11 left sided APs were ablated in the mitral ring, on 2 occasions, on their atrial aspect through a retrograde transmitral approach. On the contrary, 16 of the 17 right sided APs were successfully ablated exclusively through a venous approach. Fourteen of these were ablated in the right posteroseptum, in 2 cases, only after reaching their ventricular aspect. Two right sided APs were interrupted in the coronary sinus os and the middle cardiac vein respectively. Conclusion: It appears that even though the electrocardiographic and electrophysiologic location of the AP in the posteroseptal space helps select the appropriate initial approach, it does not always guarantee a successful ablation procedure in the expected site of the corresponding atrioventricular ring. Not uncommonly, it will be necessary to look after intermediate target sites within the coronary sinus to improve the overall ablation success rate.