A Lucia

Publications (51)136.31 Total impact

• Article: ACTN3 genotype in Spanish elite swimmers: No "heterozygous advantage"

  J R Ruiz, C Santiago, T Yvert, C Muniesa, G Díaz-Ureña, N Bekendam, C Fiuza-Luces, F Gómez-Gallego, P Femia, A Lucia
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  ABSTRACT: The aim of the present case-control study was to examine the association of the ACTN3 R577X genotype with elite swimming status. We compared a group of Spanish (Caucasian) elite swimmers (n = 88) with other cohorts of the same ethnic origin, i.e., nonathletic controls (n = 343) and other types of athletes who are in both end-points of the sports performance continuum, i.e., world-class power (n = 119) and endurance male athletes (n = 154). Swimmers had a lower odds ratio (OR) of having the RX genotype [1.815, 95% confidence intervals (CI): 0.899-3.664] compared with nonathletic controls, yet the association did not reach statistical significance (P = 0.096). Endurance athletes had greater OR of having the XX genotype (OR: 2.88, 95% CI: 1.162-7.135, P = 0.022), or the RX+XX genotype (OR: 1.903, 95% CI: 1.015-3.567, P = 0.045) compared with swimmers. No other association was found. In summary, we did not observe an association between the ACTN3 R577X polymorphism and elite swimmer's status, suggesting that any influence of this polymorphism is not of sufficient magnitude as to significantly influence elite swimming performance, at least in Spanish athletes.
  Scandinavian Journal of Medicine and Science in Sports 01/2013; · 2.87 Impact Factor
• Source

  Available from: Nir Eynon

  Dataset: GNB3 Replication IJSM-Final with page number

  C Fiuza-Luces, A Lucia, C Santiago, J R Ruiz, F Gómez-Gallego, N Eynon, Y Meckel, J Oliveira
• Article: Factors affecting gross efficiency in cycling.

  J J de Koning, D A Noordhof, A Lucia, C Foster
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  ABSTRACT: There is little standardization of how to measure cycling gross efficiency (GE). Therefore, the purposes of these studies were to evaluate the effect of: i) stage duration, ii) relative exercise intensity, iii) work capacity and iv) a prior maximal incremental test on GE. Trained subjects (n=28) performed incremental tests with stage durations of 1-, 3-, and 6-min to establish the effect of stage duration and relative exercise intensity on GE. The effect of work capacity was evaluated by correlating GE with peak power output (PPO). In different subjects (n=9), GE was measured at 50% PPO with and without a prior maximal incremental test. GE was similar in 3- and 6-min stages (19.7±2.8% and 19.3±2.0%), but significantly higher during 1-min stages (21.1±2.7%), GE increased with relative exercise intensity, up to 50% PPO or the power output corresponding to the ventilatory threshold and then remained stable. No relationship between work capacity and GE was found. Prior maximal exercise had a small effect on GE measures; GE was lower after maximal exercise. In conclusion, GE can be determined robustly so long as steady state exercise is performed and RER ≤1.0.
  International Journal of Sports Medicine 06/2012; 33(11):880-5. · 2.43 Impact Factor
• Article: The C allele in NOS3 -786 T/C polymorphism is associated with elite soccer player's status.

  N Eynon, J R Ruiz, T Yvert, C Santiago, F Gómez-Gallego, A Lucia, R Birk
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  ABSTRACT: The NOS3-786 T/C polymorphism (rs2070744) is a candidate to explain individual variations in sports related phenotypes. We determined the genotype and allele frequency of NOS3-786 T/C in a group of 60 male professional elite soccer players. Their results were compared with those of 100 world-class endurance athletes, 53 elite power athletes, and 100 sedentary, healthy men (controls) of the same Caucasian (Spanish) origin. There were significant differences in genotype frequencies between soccer players, controls, endurance and power elite athletes (all P ≤ 0.02). These results were confirmed when we analysed allelic frequencies (all P<0.01). The likelihood of having the C allele was higher in soccer players compared with (i) controls [odds ratio (OR), 2.165, 95% confidence interval (CI): 1.362-3.441], (ii) endurance athletes (OR: 1.879, 95%CI: 1.184-2.984), and (iii) power athletes (OR: 4.032, 95%CI: 2.307-7.047). In conclusion, the -786C allele is associated with the status of being an elite soccer player, compared with non-athletic controls and also with elite endurance and power athletes. More research is needed in other groups of elite soccer players in order to replicate the results of the present study.
  International Journal of Sports Medicine 04/2012; 33(7):521-4. · 2.43 Impact Factor
• Article: ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players.

  J R Ruiz, M Fernández del Valle, Z Verde, I Díez-Vega, C Santiago, T Yvert, G Rodríguez-Romo, F Gómez-Gallego, J J Molina, A Lucia
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  ABSTRACT: We examined the association of R577X polymorphism (rs1815739) in the α-actinin-3 (ACTN3) gene with "explosive" leg muscle power performance in a group of male and female elite volleyball players (n=66, 31 men, 35 women) and in a group of non-athletic male and female young adults (n=334, 243 men, 91 women). We assessed power performance by means of the vertical squat and counter-movement jump tests. We also determined whether the genotypic frequencies of the ACTN3 R577X genotypes differed between groups. We did not observe any effect of the ACTN3 R577X polymorphism on study phenotypes in both groups, regardless of gender (all P>0.05). Genotype frequencies were similar between volleyball and control groups (P=0.095). Moreover, we did not find an association between the ACTN3 R577X polymorphism and the likelihood of being an elite volleyball player using the dominant (RR vs RX+XX) and the recessive model (RR+RX vs XX). In summary, these findings suggest that the ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players.
  Scandinavian Journal of Medicine and Science in Sports 12/2011; 21(6):e34-41. · 2.87 Impact Factor
• Article: Exercise training and cytokines in breast cancer survivors.

  A M Gómez, C Martínez, C Fiuza-Luces, F Herrero, M Pérez, L Madero, J R Ruiz, A Lucia, M Ramírez
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  ABSTRACT: The purpose of this randomized controlled trial was to determine the effects of an 8-week (aerobic+strength) exercise training program (3 sessions/week) on the circulating cytokine levels of breast cancer survivors. We randomly allocated 16 female survivors of breast cancer (mean±SD age: 50±5 years) to an intervention or usual care (control) group (N=8 in each group). The intervention group followed an 8-week exercise program consisting of 3 sessions/week (session duration: 90 min). We measured the levels of the following cytokines before and after the intervention: beta-NGF, CTACK, eotaxin, FGF basic, G-CSF, gmCSFα, HGF, ICAM1, IFNα2, IFNγ, IL1α, IL1ß, IL1ra, IL2, IL2ra, IL3, IL4, IL6, IL7, IL8, IL9, IL10, IL12, IL13, IL15, IL16, IL17, IL18, IP10, LIF, MCS-F, MIP1α, MIP1β, MIF, MCP1, MCP3, MIG, PDGF bb, SCF, SCGFβ, SDF1α, TRAIL, TNFα, TNFβ, VCAM1, and VEGF. We only observed a significant interaction (group*time) effect for CTACK ( P=0.016), with mean values remaining stable in the intervention group but increasing over time in controls. The intervention program did not induce a significant decrease in the main breast cancer-related cytokines such as IL6 and IL8. A combined (aerobic+strength) 8-week exercise training intervention did not induce major changes in the basal cytokine levels of breast cancer survivors.
  International Journal of Sports Medicine 03/2011; 32(6):461-7. · 2.43 Impact Factor
• Source

  Available from: Nir Eynon

  Article: GNB3 C825T Polymorphism and elite athletic status: A replication study with two ethnic groups.

  J R Ruiz, N Eynon, Y Meckel, C Fiuza-Luces, C Santiago, F Gómez-Gallego, J Oliveira, A Lucia
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  ABSTRACT: We aimed to replicate the original findings by Eynon et al. showing an association between the T allele of the GNB3 C825T polymorphism and elite endurance athletic status, in larger cohorts and in other ethnicities. We compared allelic and genotypic frequencies of the GNB3 C825T polymorphism among non-athletic controls (N=340), elite endurance athletes (N=174), and power athletes (N=134). The population sample included participants from 2 different ethnic/geographic backgrounds (Israel and Spain). We observed no significant differences in genotypic and allelic frequencies between countries or groups (all P>0.1). The odds ratio (OR) of being an endurance athlete if the subject had a T allele was 0.841 (95%CI: 0.638-1.110) compared to the control group and 1.047 (95% CI: 0.751-1.461) compared to the power group. Our findings support the need to corroborate genotype:phenotype associations in the field of sports genetics with the largest possible population samples, including populations of different ethnic backgrounds.
  International Journal of Sports Medicine 02/2011; 32(2):151-3. · 2.43 Impact Factor
• Article: Last Word on Viewpoint: The two-hour marathon: Who and when?

  M J Joyner, J R Ruiz, A Lucia
  Journal of Applied Physiology 01/2011; 110(1):294. · 3.75 Impact Factor
• Source

  Available from: letsrun.com

  Article: The two-hour marathon: who and when?

  M J Joyner, J R Ruiz, A Lucia
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  ABSTRACT: Whoever breaks 2 h will likely have outstanding running economy and small body size along with exposure to high altitude and significant physical activity early in life. However, neither of these factors nor any specific suite of genotypes appear to be obligatory for a time this fast. Current trends suggest that an East African will be the first to break 2 h. However periods of regional dominance in distance running are not unique to the East Africans: athletes from Finland, Eastern Europe, Australia, and New Zealand have all had extended periods of success at a range of distances. From a physiological perspective, more information is clearly needed on the relationship between VO(2max) and running economy and the influence of running economy and body size on thermoregulation and fuel use.
  Journal of Applied Physiology 01/2011; 110(1):275-7. · 3.75 Impact Factor
• Article: Exercise in adult and pediatric hematological cancer survivors: an intervention review.

  K Y Wolin, J R Ruiz, H Tuchman, A Lucia
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  ABSTRACT: Observational research has shown that the physical activity levels of survivors of hematological cancer are low, with deleterious health consequences. This review summarizes the research on exercise interventions in adult and pediatric hematological cancer survivors. We searched MEDLINE, SPORTDiscus, CINAHL, Embase, Cochrane and PEDro through September 2009 for exercise intervention studies in children and adults with any type of hematological cancer. In the 24 adult intervention studies reviewed, we found strong evidence (that is, > or =3 high-quality studies and > or =75% reporting a significant benefit) for a benefit on body composition. Weak, but promising, evidence (> or =3 high-quality studies, but <75% reporting a significant benefit) was found for cardiorespiratory fitness, fatigue, muscle strength, physical functioning and quality of life. In pediatric interventions (13 studies), we found strong evidence for a benefit on muscle strength and cardiorespiratory fitness, particularly, if training was conducted in the hospital setting. Evidence is weak for ankle dorsiflexion, physical functioning and body composition. No exercise-related risks were identified in adults or children studies. Though more randomized controlled trials are needed, a growing body of literature supports the notion that regular physical activity is safe and has potential benefits for both adult and pediatric hematological cancer survivors.
  Leukemia: official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 06/2010; 24(6):1113-20. · 8.30 Impact Factor
• Article: Can we predict top-level sports performance in power vs endurance events? A genetic approach.

  A Buxens, J R Ruiz, D Arteta, M Artieda, C Santiago, M González-Freire, A Martínez, D Tejedor, J I Lao, F Gómez-Gallego, A Lucia
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  ABSTRACT: The goal of our study was to discriminate potential genetic differences between humans who are in both endpoints of the sports performance continuum (i.e. world-class endurance vs power athletes). We used DNA-microarray technology that included 36 genetic variants (within 20 different genes) to compare the genetic profile obtained in two cohorts of world-class endurance (N=100) and power male athletes (N=53) of the same ethnic origin. Stepwise multivariate logistic regression showed that the rs1800795 (IL6-174 G/C), rs1208 (NAT2 K268R) and rs2070744 (NOS3-786 T/C) polymorphisms significantly predicted sport performance (model χ(2) =25.3, df=3, P-value <0.001). Receiver-operating characteristic (ROC) curve analysis showed a significant discriminating accuracy of the model, with an area under the ROC curve of 0.72 (95% confidence interval: 0.66-0.81). The contribution of the studied genetic factors to sports performance was 21.4%. In summary, although an individual's potential for excelling in endurance or power sports can be partly predicted based on specific genetic variants (many of which remain to be identified), the contribution of complex gene-gene interactions, environmental factors and epigenetic mechanisms are also important contributors to the "complex trait" of being an athletic champion. Such trait is likely not reducible to defined genetic polymorphisms.
  Scandinavian Journal of Medicine and Science in Sports 03/2010; 21(4):570-9. · 2.87 Impact Factor
• Article: ACE and ACTN3 genes and muscle phenotypes in nonagenarians.

  N Bustamante-Ara, C Santiago, Z Verde, T Yvert, F Gómez-Gallego, G Rodríguez-Romo, P González-Gil, J A Serra-Rexach, J R Ruiz, A Lucia
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  ABSTRACT: We studied the association of ACE and ACTN3 polymorphisms with skeletal muscle phenotypes (i. e. upper and lower body muscular strength and functional tests) in Spanish nonagenarian subjects [n=41, 33 women, 8 men, age: 90-97 years]. Mean values of the study phenotypes were not significantly different (all P>0.05) between ACE and ACTN3 genotypes. The analyses of the combined effects between genotypes ( ACE DD & ACTN3 RR/RX vs. ACE II/ID & ACTN3 XX) did not yield any significant difference. Our data suggest that, in the elderly, the influence of genetic factors on muscle phenotype traits is not reducible to a few single polymorphisms, including ACE and ACTN3 variants.
  International Journal of Sports Medicine 02/2010; 31(4):221-4. · 2.43 Impact Factor
• Article: Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non-athletic adults?

  C Santiago, G Rodríguez-Romo, F Gómez-Gallego, M González-Freire, T Yvert, Z Verde, F Naclerio, S Altmäe, J Esteve-Lanao, J R Ruiz, A Lucia
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  ABSTRACT: We investigated the association between ACTN3 R577X polymorphism and jumping (vertical squat and counter-movement jump tests) and sprint ability (30 m dash) in non-athletic, healthy young adults [N=284 (217 male), mean (SD) age: 21 (2) years]. We analyzed the differences in the study phenotypes among ACTN3 R577X genotypes by one-way analysis of covariance before and after adjusting for sex, age, weight and height (confounders). We also compared the genotype and allele frequencies between those with the best and worst results in the aforementioned tests (≥90th vs <90th of the sex-specific percentile, respectively). We used logistic regression to calculate the odds ratio (OR) for having the best performance. We did not observe a significant association between ACTN3 R577X genotypes and the study phenotypes before and after adjusting for potential confounders, nor after analyzing males and females separately. We did not observe significant differences in genotype frequencies between those with the best or the worst performance. The OR for an individual with the RR genotype to be in the top 10 percentile was <1.00 for jump tests and <1.015 for sprint tests (all P>0.05). In summary, α-actinin-3 deficiency does not negatively influence the ability to generate explosive leg muscle power in a young non-athletic population.
  Scandinavian Journal of Medicine and Science in Sports 10/2009; 20(5):771-8. · 2.87 Impact Factor
• Article: Resistance exercise training during pregnancy and newborn's birth size: a randomised controlled trial.

  R Barakat, A Lucia, J R Ruiz
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  ABSTRACT: We examined the effect of light intensity resistance exercise training performed during the second and third trimester of pregnancy on the newborn's birth size. We also studied the association between maternal body weight prior to pregnancy and newborn's birth size. Randomised controlled trial. We randomly assigned 160 sedentary gravidae to either a training (n=80) or a control (n=80) group. The training programme focused on light resistance and toning exercises (three times per week, 35-40 min per session). We recorded the Apgar score, birth weight, birth length, and head circumference of the newborn, as well as gestational age at time of delivery from hospital perinatal records. We also measured maternal weight and height before parity and gestational weight gain. Maternal characteristics neither differed between groups (all P>0.1) nor newborn characteristics (all P>0.1). Maternal body weight was positively and significantly associated with newborn's birth weight and length only in the control group (beta=19.20 and 0.065, respectively, P<0.01). Light intensity resistance training performed over the second and third trimester of pregnancy does not have a negative impact on the newborn's body size or overall health. Exercise interventions might attenuate the adverse consequences of maternal body weight before pregnancy on the newborn's birth size.
  International journal of obesity (2005) 07/2009; 33(9):1048-57. · 4.34 Impact Factor
• Article: Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing.

  C Santiago, J R Ruiz, C A Muniesa, M González-Freire, F Gómez-Gallego, A Lucia
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  ABSTRACT: We determined whether the polygenic profile computed with seven candidate polymorphisms (i.e., ACE, ACTN3, AMPD1, CKMM, HFE, GDF-8 and PPARGC1A) for endurance performance is different in 39 world-class and 15 national-class Spanish (Caucasian) lightweight rowers. The second purpose was to examine the impact of possessing a "preferable" polygenic profile on the sport success in terms of the number of medals won in World and National Championships. Finally, we also compared the polygenic profile of world- and national-class Spanish rowers with that of the general Spanish population. The polygenic profile did not differ between groups of rowers. We did not observe an association between having a preferable polygenic profile and medals won in World and National Championships. Finally, we observed that rowers tend to have a more "favorable" polygenic profile than the general Spanish population. These findings argue against the idea that genetic endowment differentiates athletic champions from elite, yet less accomplished athletes. In contrast, we cannot discard the fact that, overall, elite athletes are endowed with a more "favorable" polygenic profile than the general population.
  Scandinavian Journal of Medicine and Science in Sports 05/2009; 20(1):e188-94. · 2.87 Impact Factor
• Article: Genotype distributions in top-level soccer players: a role for ACE?

  P Juffer, R Furrer, M González-Freire, C Santiago, Z Verde, L Serratosa, F J Morate, J C Rubio, M A Martin, J R Ruiz, J Arenas, F Gómez-Gallego, A Lucia
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  ABSTRACT: We determined the genotype and allelic frequency of several genetic polymorphisms (ACE I/D, GDF-8K153R [and also E164K, P198A and I225T] and AMPD1 C34T) that are candidates to influence sports performance in a group of 54 male professional soccer players. Their results were compared with those of elite endurance male athletes (52 runners) and 123 sedentary, healthy men (controls). We found statistical significance for the ACE ID (chi (2)((2))=8.176, P=0.017) and II genotypes (chi(2)((2))=16.137, P<0.001) with a higher and lower frequency of ID ( P=0.005) and II (P<0.001), respectively, in soccer players than in endurance runners. Statistical significance was also reached for AMPD1 (with a higher frequency of the CT genotype in soccer players than in runners [chi(2)((2))=7.538, P=0.006]) but not for GDF-8 K153R. Since the ACE II genotype is associated with improved potential for endurance performance but with decreased training gains in muscle mass and strength, these findings together with previous results support the notion that elite soccer players tend to have a power/strength oriented genotype.
  International Journal of Sports Medicine 03/2009; 30(5):387-92. · 2.43 Impact Factor
• Article: Time trial exertion traits of cycling's Grand Tours.

  C P Earnest, C Foster, J Hoyos, C A Muniesa, A Santalla, A Lucia
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  ABSTRACT: We examined 26 professional riders during time trial (TT) competitions of the Grand Tours of cycling (Tour de France and Vuelta Espana; 1997-2003) for the exertional characteristics of contending vs. non-contending (i.e., support) riders. We categorized HR time during TT into training impulse (TRIMP) defined from seasonal VO2max testing [Phase I (<ventilatory threshold (VT approximately 64% VO2max); Phase II (VT-respiratory compensation threshold, approximately 83% VO2max); Phase III >RCP]. Races were: Short TT (<15 km; 8.9+/-2.9 km); Individual TT (>15 km; 48.12+/-8.7 km); Uphill TT (20.0+/-8.7 km) and Team TT (44.1+/-20.9 km). We observed statistically significant event-by-contender interactions for all TT (all, P<0.0001) except the short TT. During uphill TT, contenders exerted fewer total TRIMP (P<0.01), more Zone 3 TRIMP (P<0.05), and fewer Zone 2 TRIMP (P<0.01) vs. non-contenders. For individual TT, contenders accumulated more Total and Zone 3 TRIMP vs. non-contenders (all, P<0.05). Interestingly, during the team TT, contenders accumulated more Zone 3, and fewer Zone 2 TRIMP (all, P<0.05), despite having the opportunity to draft behind other riders while in paceline race formation. During TT events, contending riders compete at a level of exertion corresponding to a higher metabolic demand during the uphill TT, individual TT and team TT.
  International Journal of Sports Medicine 02/2009; 30(4):240-4. · 2.43 Impact Factor
• Article: Endurance performance: genes or gene combinations?

  F Gómez-Gallego, C Santiago, M González-Freire, C A Muniesa, M Fernández Del Valle, M Pérez, C Foster, A Lucia
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  ABSTRACT: We assessed the possible association between variants of the genes encoding for the angiotensin-converting enzyme ( ACE) and alpha-actinin-3 ( ACTN3) (both individually and combined) and several endurance phenotypic traits, e.g., peak power output (PPO), ventilatory (VT) and respiratory compensation threshold (RCT), among others, in professional road cyclists and sedentary controls (n = 46 each). We applied an ANCOVA test using the aforementioned phenotype traits as dependent variables, ACE and/or ACTN3 genotype as the fixed (independent) factor and age and body mass as covariates. We only found a significant genotype effect with no concomitant covariate effect for ACTN3, with cyclists who were not alpha-actinin-3 deficient (RR + RX genotypes) having higher PPO and VT values than their XX counterparts (mean [SEM]: 7.4 (0.1) vs. 7.1 (0.1) W/kg, p = 0.035; and 4.5 (0.1) vs. 4.3 (0.1) W/kg, p = 0.029, respectively). Cyclists with an "extreme" ACTN3 and ACE genotype combination, i.e., most strength/power oriented (DD + RR/RX), had higher RCT values than those with the "intermediate" combinations (II + RX/RR, p = 0.036; and DD + XX, p = .0004) but similar to those with the most endurance oriented genotype (II + XX). No significant differences (p > 0.05) were found in controls. In summary, in world-class cyclists, we only found an association between ACTN3 genotypes and VT and PPO, and between ACTN3/ACE genotype combinations and RCT.
  International Journal of Sports Medicine 01/2009; 30(1):66-72. · 2.43 Impact Factor
• Article: Benefits of intrahospital exercise training after pediatric bone marrow transplantation.

  A F San Juan, C Chamorro-Viña, S Moral, M Fernández del Valle, L Madero, M Ramírez, M Pérez, A Lucia
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  ABSTRACT: The purpose of this study was to determine if an eight-week intrahospital supervised, conditioning program improves functional capacity and quality of life (QOL) in children (4 boys, 4 girls) (mean [SD] age: 10.9 [2.8] years [range: 8-16]) who have undergone bone marrow transplantation (BMT) for leukemia treatment within the last 12 months. A group of 8 age and gender-matched healthy children served as controls. The experimental group performed 3 weekly sessions of resistance and aerobic training inside an intra-hospital gymnasium. A significant combined effect of group and time (p < 0.05) was observed for muscle functional capacity (Timed Up and Down Stairs [TUDS] test) and peak oxygen uptake (V.O(2peak)), i.e., with BMT children showing greater improvements than controls (V.O(2peak) at pre- and post-training of 25.9 (8.2) and 31.1 (7.6) mL/kg/min in diseased children). Muscle strength (6 RM test for bench and leg press and seated row) also improved after training (p < 0.05) in the BMT group. Concerning QOL, a significant combined effect of group and time (p < 0.05) was also observed for children's self-report of comfort and resilience and for parents' report of their children's satisfaction and achievement. In summary, children who have received BMT experience physical and overall health benefits after a relatively short-term (8 weeks) supervised exercise training program.
  International Journal of Sports Medicine 05/2008; 29(5):439-46. · 2.43 Impact Factor
• Article: AMPD1 genotypes and exercise capacity in McArdle patients.

  J C Rubio, M Pérez, J L Maté-Muñoz, I García-Consuegra, C Chamorro-Viña, M Fernández del Valle, A L Andreu, M A Martín, J Arenas, A Lucia
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  ABSTRACT: The purpose of this study was to assess if there exists an association between C34T muscle adenosine monophosphate deaminase ( AMPD1) genotypes (i.e., normal homyzygotes [CC] vs. heterozygotes [ CT]) and directly measured indices of exercise capacity (peak oxygen uptake [VO(2peak)], ventilatory threshold [VT], gross mechanical efficiency [GE], etc.) in 44 Caucasian McArdle patients (23 males, 21 females). All patients performed a graded cycle ergometer test until exhaustion (for VO(2peak) and VT determination) and a 12-min constant-load test at the power output eliciting the VT (for GE determination). We found no significant difference in indices of exercise capacity between CC (n = 18) and CT genotypes (n = 5) in the group of male patients (p > 0.05). In contrast, the VO(2) at the VT was significantly lower (p < 0.05) in CT (n = 4; 7.9 +/- 0.4 ml/kg/min) than in CC female patients (n = 17; 11.0 +/- 0.9 ml/kg/min). In summary, heterozigosity for the C34T allele of the AMPD gene is associated with reduced submaximal aerobic capacity in female patients with McArdle disease and might partly account, in this gender, for the variability that exists in the phenotypic manifestation of the disease.
  International Journal of Sports Medicine 04/2008; 29(4):331-5. · 2.43 Impact Factor