Francesco Conconi

Increased frequency of the homozygous II ACE genotype in Italian Olympic endurance athletes

Increased frequency of the homozygous II ACE genotype in Italian Olympic endurance athletes

Absence of β-globin synthesis and excess of α-globin synthesis in homozygous β-thalassaemic subjects from the Ferrara region.

β-THALASSAEMIA is a genetically determined anaemia of man, characterized by a decrease in production1–6 or the absence7 of β-globin, and by an excess of α-globin synthesis4,6–8, which results in the α/(β + γ + δ) globin synthesis ratio largely exceeding the normal value of 1.0.

Direct demonstration of beta-globin mRNA in homozygous Ferrara betaO-thalassaemia patients.

In cases of β0- thalassaemia from Ferrara, Italy, the β-globin gene is transcribed into mRNA but no protein is synthesised. For these cases there is no hybridisation data suggesting a globin gene structural mutation. This again demonstrates the diverse molecular events which may cause this prevalent hereditary disease.

Gene deletion in an Italian haemophilia B subject.

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

Identification of a Oo2 Deflection Point Coinciding With the Heart Rate Deflection Point and Ventilatory Threshold in Cycling

Grazzi, G, Mazzoni, G, Casoni, I, Uliari, S, Collini, G, van der Heide, L, and Conconi, F. Identification of a &OV0312;o2 deflection point coinciding with the heart rate deflection point and ventilatory threshold in cycling. J Strength Cond Res 22: 1116-1123, 2008-The purposes of this study were to compare the patterns of the work rate (WR)-&OV0312;o2 and WR-heart rate (HR) relationships in incremental cycling, to ascertain the occurrence of a &OV0312;o2 deflection (&OV0312;o2def) coinciding with the HR deflection point (HRdef ), and to determine whether the &OV0312;o2def, if present, coincides with the ventilatory anaerobic threshold (VT). Twenty-four professional cyclists performed a maximal incremental test on a wind-load cycle ergometer. Work rate, HR, &OV0312;o2, and &OV0312;co2 were recorded. The WR-&OV0312;o2 relationships obtained were linear up to submaximal WR and curvilinear thereafter and thus described a &OV0312;o2def. The WR and &OV0312;o2 at &OV0312;o2def were mathematically determined for all subjects. The ratio of ΔWR·Δ&OV0312;o2−1 up to &OV0312;o2def was significantly lower than that above &OV0312;o2def (90 ± 11 W·L−1·min−1 versus 133 ± 35 W·L−1·min−1, p < 0.0001). The WR-HR relationships obtained were linear up to submaximal WR and curvilinear thereafter. The WR and HR at HRdef were mathematically determined for all subjects. The WR values at &OV0312;o2def and at HRdef (329 ± 32 W and 326 ± 34 W) were significantly correlated (R2 = 0.96, p < 0.0001) and in good concordance (limits of agreement from -4.7% to 3.2%, Bland-Altman analysis). The &OV0312;o2 at VT was then determined for all subjects. The &OV0312;o2 values at &OV0312;o2def and at VT were significantly correlated (R2 = 0.99, p < 0.0001) and in strong concordance (limits of agreement from -1.9% to 1.0%, Bland-Altman analysis). In conclusion, a &OV0312;o2def coinciding with HRdef and VT was shown. This confirms that the determination of the WR-HR relationship and of HRdef is a practical and noninvasive means of identifying anaerobic threshold.

Treadmill walking speed and survival prediction in men with cardiovascular disease: a 10-year follow-up study

Objective To determine whether the walking speed maintained during a 1 km treadmill test at moderate intensity predicts survival in patients with cardiovascular disease. Design Population-based prospective study. Setting Outpatient secondary prevention programme in Ferrara, Italy. Participants 1255 male stable cardiac patients, aged 25–85 years at baseline. Main outcome measures Walking speed maintained during a 1 km treadmill test, measured at baseline and mortality over a median follow-up of 8.2 years. Results Among 1255 patients, 141 died, for an average annual mortality of 1.4%. Of the variables considered, the strongest predictor of all-cause mortality was walking speed (95% CI 0.45 to 0.75, p<0.0001). Based on the average speed maintained during the test, participants were subdivided into quartiles and mortality risk adjusted for confounders was calculated. Compared to the slowest quartile (average walking speed 3.4 km/h), the relative mortality risk decreased for the second, third and fourth quartiles (average walking speed 5.5 km/h), with HRs of 0.73 (95% CI 0.46 to 1.18); 0.54 (95% CI 0.31 to 0.95) and 0.20 (95% CI 0.07 to 0.56), respectively (p for trend <0.0001). Receiver operating curve analysis showed an area under the curve of 0.71 (p<0.0001) and the highest Youden index (0.35) for a walking speed of 4.0 km/h. Conclusions The average speed maintained during a 1 km treadmill walking test is inversely related to survival in patients with cardiovascular disease and is a simple and useful tool for stratifying risk in patients undergoing secondary prevention and cardiac rehabilitation programmes.

Peak oxygen uptake prediction from a moderate, perceptually regulated, 1-km treadmill walk in male cardiac patients.

PURPOSE: To determine whether a moderate 1-km treadmill walking test (1KTWT) could be used to predict peak oxygen uptake ( O2peak) in patients with cardiovascular disease. METHODS: One hundred seventy-eight male patients, aged 38 to 83 years, completed a O2peak treadmill test and a 1KTWT using a self-regulated intensity of 11 to 13 of 20 on the Borg scale. Multivariable regression analysis was used to develop equations for predicting O2peak in a development group (n = 110), both for subjects prescribed and not prescribed a &bgr;-blocking agent (BB/NBB, 66/44). These equations were then applied to a cross-validation and reproducibility group (n = 68, BB/NBB, 37/31), who completed the protocol twice within 2 weeks. RESULTS: Analysis from 1KTWT in the development group showed that age, body mass index, walking speed, and heart rate were the most potent predictors of O2peak. Measured and predicted O2peak were not significantly different, and were strongly associated among both the NBB (r = 0.81, P < .0001) and BB (r = 0.69, P < .0001) groups, with a mean residual of approximately 1.0 mL·kg−1·min−1. When applied to the cross-validation and reproducibility group, the equations similarly yielded strong associations (r = 0.64, P < 0.001 and r = 0.71, P < 0.001 for the NBB and BB groups, respectively), with no significantly differences between measured and predicted O2peak. Mean test-retest differences for measured and predicted O2peak were between 0.1 and −0.5 mL·kg−1·min−1. CONCLUSIONS: Equations developed from the 1KTWT accurately predicted O2peak in patients with cardiovascular disease. The model may represent a valid, low cost, and simple tool for indirect estimations of cardiorespiratory fitness in an outpatient setting.

Home-centred physical fitness programme in morbidly obese individuals: a randomized controlled trial

Objective: To assess the effectiveness of domiciliary physical fitness programmes in obese individuals. Design: Nine-month randomized controlled trial. Setting: Home-based intervention with outpatient visits. Subjects: Morbidly obese subjects (body mass index (BMI) ≥30) aged 25—65 years suitable for physical activities at home. Intervention: At the end of a preliminary one-month in-hospital rehabilitation programme (baseline), 52 patients were randomly assigned either to a structured educational programme (intervention group) of daily incremental physical activity at home (walking and skeletal muscle resistance training, with booklets and written instructions) or to a programme of general advice (control group) regarding exercise and long-term fitness. Main measures: Both groups were evaluated at baseline and every three months for: (1) time, metabolic equivalents (METs), and heart rate reserve (HRR) during a standardized 2-km walking test (2kmWT); (2) anthropometric measures (body weight, BMI, abdominal and neck circumference); (3) the Polar Fitness Test index (PFTI), and (4) time to exhaustion while sustaining consecutive isoload extensions in the dominant leg (isoload LE). Time during 2kmWT was the study primary outcome. Results: Body weight, BMI and abdominal circumference improved significantly (P<0.05) over time in the intervention group. The cardiopulmonary fitness variables changed significantly (P<0.05) over time in both study groups. However, all variables improved in the intervention patients, while some worsened or remained stable in the controls. Thus, the mean group difference in changes was significant (P<0.05) for 2kmWT time (—77.4 seconds), HRR (11.7%), and PFTI (5.4 points). Conclusion: This structured domiciliary fitness programme is feasible and provides sustained anthropometric and physiological benefits in some morbidly obese individuals.

Identification of a c-myc oncogene lacking the exon 1 in the normal cells of a patient carrying a thyroid carcinoma

In this paper we describe an alteration of the c‐myc oncogene present in the white blood cells and normal as well as neoplastic thyroid cells of a subject carrying a thyroid carcinoma. Restriction enzyme mapping and hybridization to human c‐myc probes specific for different regions of this gene demonstrate that this subject carries, in addition to the normal one, a c‐myc oncogene lacking the first exon and part of the first intron. The levels of the c‐myc mRNA in thyroid cells of this subject do not show differences with respect to thyroid cells from other subjects. Taken together, these findings indicate that the deletion of the first exon of the c‐myc oncogene, in itself, does not produce overtranscription of this oncogene nor hematopoietic malignancies.

Association between VO2 peak estimated by a 1-km treadmill walk and mortality. A 10-year follow-up study in patients with cardiovascular disease

PURPOSE The aim of this study is to assess the association between peak oxygen uptake (VO2 peak), determined using a perceptually regulated 1-km walking test (1k-TWT), and all-cause mortality in cardiac patients. METHODS 1255 male patients, aged 25-85 years, completed a moderate 1k-TWT to estimate VO2 peak. Subjects were followed for all-cause mortality for up to 10 years. Cox proportional hazard models were employed to determine variables associated with mortality. Based on the estimated VO2 peak, the sample was subdivided into quartiles and mortality risks were calculated. To assess the discriminatory accuracy of the estimated VO2 peak for estimating survival, receiver-operating-characteristics curves were constructed. RESULTS During a median 8.2 year follow-up, a total of 141 deaths from any cause occurred, yielding an average annual mortality of 1.4%. The strongest predictor of all-cause mortality was the estimated VO2 peak (c-statistic 0.71, 95% confidence intervals: 0.69-0.74, P<0.0001). Survival decreased in a graded fashion from the highest estimated VO2 peak quartile to the lowest quartile. Compared to the lowest quartile, the hazard ratios (95% confidence intervals) for the second, third, and fourth quartiles were 0.77 (0.35-1.33), 0.43 (0.20-0.91), and 0.16 (0.05-0.54) respectively (P for trend <0.0001). An 89% reduction in mortality risk was observed among a subset of subjects in the fittest quartile who improved their estimated VO2 peak over the follow-up period relative to subjects in the least fit quartile who did not improve. CONCLUSION VO2 peak estimated by a novel 1k-TWT predicts survival in subjects with stable cardiovascular disease.