Alfredo Santalla

Universidad Pablo de Olavide, Hispalis, Andalusia, Spain

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Publications (35)91.25 Total impact

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    ABSTRACT: This study sought to determine whether health-related quality of life (HRQoL) could be related to cardiorespiratory fitness (CRF) and/or physical activity (PA) in patients with McArdle disease and to compare the CRF and HRQoL data obtained with normative data for age- and sex-matched healthy subjects.
    Medicine and science in sports and exercise. 07/2014;
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    ABSTRACT: Numerous biomedical advances have been made since Carl and Gerty Cori discovered the enzyme phosphorylase in the 1940s and the Scottish physician Brian McArdle reported in 1951 a previously 'undescribed disorder characterized by a gross failure of the breakdown in muscle of glycogen'. Today we know that this disorder, commonly known as 'McArdle disease', is caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (GP). Here we review the main aspects of the 'pathogenomics' of this disease including, among others: the spectrum of mutations in the gene (PYGM) encoding muscle GP; the interplay between the different tissue GP isoforms in cellular cultures and in patients; what can we learn from naturally occurring and recently laboratory-generated animal models of the disease; and potential therapies.
    Journal of Inherited Metabolic Disease 07/2014; · 4.07 Impact Factor
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    ABSTRACT: The purposes of this study were to determine the extent to which specific anthropometric, conditional, and pulmonary function variables predict 100-m front-crawl performance in national swimmers and compare anthropometric, conditional, and pulmonary function variables between both genders. Two groups (male, n=8 and female, n=9) of sprint swimmers (mean age +/- SD = 19.4 +/- 0.7 and 16.9 +/- 3.2 years, respectively) of national competitive level volunteered for this study. Swimmers performed an all-out 100 m front crawl swimming test. Physiological parameters of lung function were measured using portable spirometer. Basic anthropometry included body height, body mass and skinfold thickness. Lower limb strength was measured by countermovement and squat jump tests. Correlation and regression analysis were calculated to quantify the relationships between trial time and each variable potentially predictive. Differences between means of both gender groups were analyzed. Results showed that 100-m race performance correlated significantly with forced inspiratory volume in the first second (FIV1) in male swimmers and with FIV1 and forced vital capacity in female swimmers. Stepwise multiple regressions revealed that FIV1 was the only predictor of 100-m race performance, explaining 66% of 100 m time trial variance in male swimmers and 58% in female swimmers. Gender comparisons indicated significant differences in anthropometric, conditional, pulmonary function and performance variables. The findings suggest that FIV1 could be a good predictor of performance and it should be evaluated routinely and used by coaches in front-crawl sprint swimmers.
    The Journal of Strength and Conditioning Research 07/2014; · 1.80 Impact Factor
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    ABSTRACT: McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles. Because patients are unable to obtain energy from their muscle glycogen stores, this disease provides an interesting model of study for exercise physiologists, allowing insight to be gained into the understanding of glycogen-dependent muscle functions. Of special interest in the field of muscle physiology and sports medicine are also some specific (if not unique) characteristics of this disorder, such as the so-called 'second wind' phenomenon, the frequent exercise-induced rhabdomyolysis and myoglobinuria episodes suffered by patients (with muscle damage also occurring under basal conditions), or the early appearance of fatigue and contractures, among others. In this article we review the main pathophysiological features of this disorder leading to exercise intolerance as well as the currently available therapeutic possibilities. Patients have been traditionally advised by clinicians to refrain from exercise, yet sports medicine and careful exercise prescription are their best allies at present because no effective enzyme replacement therapy is expected to be available in the near future. As of today, although unable to restore myophosphorylase deficiency, the 'simple' use of exercise as therapy seems probably more promising and practical for patients than more 'complex' medical approaches.
    Sports medicine (Auckland, N.Z.). 07/2014;
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    ABSTRACT: McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence of myophosphorylase activity in skeletal muscle biopsies and genetic analysis of the myophosphorylase-encoding gene, PYGM. The recently reported association between myophosphorylase and Rac1 GTPase in a T lymphocyte cell line prompted us to study myophosphorylase expression in white blood cells from 20 healthy donors and 30 McArdle patients by flow cytometry using a fluorescent-labeled PYGM antibody. We found that T lymphocytes expressed myophosphorylase in healthy donors, but expression was significantly lower in McArdle patients (p<0.001). PYGM mRNA levels were also lower in white blood cells from McArdle patients. Nevertheless, in 13% of patients (either heterozygotes or homozygotes for the most common PYGM pathogenic mutation among Caucasians (p.R50X)), the percentage of myophosphorylase-positive white blood cells was not different compared with the control group. Our findings suggest that analysis of myophosphorylase expression in white blood cells might be a useful, less-invasive, complementary test for diagnosing McArdle disease.
    Neuromuscular Disorders 01/2014; · 3.46 Impact Factor
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    ABSTRACT: Physical activity (PA) is recommended as part of the treatment regimen for cystic fibrosis (CF) although objective methods have been scarcely used to monitor achievement of PA guidelines. PA was measured by accelerometer in outpatient CF children (n=47) and results were compared with those obtained in age- and gender-matched healthy controls (n=39). 2.1% of the outpatients fulfilled PA guidelines (i.e. ≥60min·day(-1) of moderate-to-vigorous PA (MVPA)) vs. 34.2% of controls. Overall, lower MVPA levels were observed in CF patients than controls despite the former undergoing more light or total PA. Peak oxygen uptake was also lower in the CF group than in controls (37.5±7.8 vs. 43.5±7.6ml·kg(-1)·min(-1), p=0.002) and was correlated with MVPA and vigorous PA in the former. These findings support a need to promote PA interventions (including MVPA) targeted at improving cardiorespiratory fitness in CF children.
    Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 10/2013; · 3.19 Impact Factor
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    ABSTRACT: From its initial inception in 1903 as a race premised on a publicity stunt to sell newspapers, the Tour de France had grown and evolved over time to become one of the most difficult and heralded sporting events in the world. Though sporting science and the Tour paralleled each other, it was not until the midlate 1980s, and especially the midlate 1990s (with the use of heart-rate monitors) that the 2 began to unify and grow together. The purpose of this brief review is to summarize what is currently known of the physiological demands of the Tour de France, as well as of the main physiological profile of Tour de France competitors.
    International journal of sports physiology and performance 09/2012; 7(3):200-9. · 2.25 Impact Factor
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    ABSTRACT: Published genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics. A cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed with McArdle disease in the Spanish National Health System up to December 2010. 239 cases were recorded (all of Caucasian descent, 102 women; mean±SD age 44±18 years (range 9, 93)); prevalence of ∼1/167 000 people. Two mutant PYGM alleles were identified in 99.6% of cases. Although there was heterogeneity in the severity of symptoms, there were four common diagnostic features: (1) 99.5% of patients reported a history of acute crises of exercise intolerance (accompanied by recurrent myoglobinuria in 50% of cases); (2) in 58% of patients, symptoms started in the first decade of life; (3) 86% of patients repeatedly experienced the 'second wind' phenomenon over life; and (4) 99% of patients had a high basal serum level of total creatine kinase (>200 U/l). Clinical presentation of the disease was similar in men and women and worsened with age. Patients who were physically active had higher levels of cardiorespiratory fitness (by 23%, p=0.003) and were more likely to improve their clinical course over a 4 year period compared with inactive patients (OR 225; 95% CI 20.3 to 2496.7). The main clinical features of McArdle disease are generally homogeneous and frequently appear during childhood; clinical condition deteriorates with ageing. Active patients have a better clinical outcome and functional capacity.
    Journal of neurology, neurosurgery, and psychiatry 03/2012; 83(3):322-8. · 4.87 Impact Factor
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    International journal of sports physiology and performance 01/2012; 7:200-209. · 2.25 Impact Factor
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    ABSTRACT: To evaluate the reliability and validity of a body monitoring device against measures obtained from indirect calorimetry (IC) in patients with fibromyalgia syndrome (FMS) during various incremental exercise intensities. Cross-sectional reliability and validity study. Testing was completed in a university exercise physiology laboratory. Women (N=25) with FMS, with a mean age ± SD of 48.6±8.4 years and a median symptom duration of 15 years (25th-75th percentiles, 10-23y), were recruited to the study. Not applicable. Patients walked and jogged on a treadmill at 4 intensities (50m·min(-1), 0% grade [n=25]; 83.3m·min(-1), 0% grade [n=25]; 116.7m·min(-1), 0% grade [n=21]; 116.7m·min(-1), 2.5% grade [n=13]) during 2 measurement conditions, while IC and a multiple-sensor body monitor measured energy expenditure (EE). The differences between the readings (test 1 - test 2) and the SD of the differences, intraclass correlation coefficient (ICC), 95% confidence interval (CI) for the ICC, coefficient of repeatability, intrapatient SD, standard error of mean (SEM), minimal detectable change, Wilcoxon signed-rank test, and Bland-Altman graphs were used to examine reliability. The magnitude of the associations between IC and the body monitoring device, ICC, 95% CI for the ICC, paired t tests, and Bland-Altman graphs were used to examine the validity of the body monitoring device versus the IC. Moderate to excellent test-retest reliability was found for the 4 bouts of exercise (ICC=.73-.76). The SEM and minimal detectable change were satisfactory for the 4 bouts of exercise (.54-1.18kcal·min(-1) and 1.51-3.28kcal·min(-1), respectively). The differences mean between test and retest were lower than the SEM for the 4 bouts of exercise, varying from -.17 to .14kcal·min(-1). No significant differences were found between test and retest for any bout. The Bland-Altman plots and the coefficients of repeatability indicated that the differences between repeated tests would lie within 2 SDs in 95% of the cases for the 4 bouts of exercise. Significant associations were found between the body monitoring device and IC measurements of EE for the 4 bouts of exercise (r=.87-.99). The differences for all bouts between the 2 methods were nonsignificant, except for the second bout (P<.001). The ICCs and Bland-Altman plots of EE for the 4 bouts showed high agreement (ICCs=.84-.99) and sufficient accuracy for quantifying EE during exercise in patients with FMS. The body monitoring device provided a valid and reliable estimate of EE in patients with FMS during walking on horizontal and inclined surfaces in a laboratory setting across various exercise intensities.
    Archives of physical medicine and rehabilitation 01/2012; 93(1):115-22. · 2.18 Impact Factor
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    ABSTRACT: The aim of this study was to determine the association between the rs6552828 polymorphism in acyl coenzyme A synthetase (ACSL1) and elite endurance athletic status. We studied 82 Caucasian (Spanish) World/Olympic-class endurance male athletes, and a group of sex and ethnically matched healthy young adults (controls, n=197). The analyses were replicated in a cohort of a different ethnic origin (Chinese of the Han ethnic group), composed of elite endurance athletes (runners) [cases, n=241 (128 male)] and healthy sedentary adults [controls, n=504 (267 male)]. In the Spanish cohort, genotype (P=0.591) and minor allele (A) frequencies were similar in cases and controls (P=0.978). In the Chinese cohort, genotype (P=0.973) and minor allele (G) frequencies were comparable in female endurance athletes and sedentary controls (P=0.881), whereas in males the frequency of the G allele was higher in endurance athletes (0.40) compared with their controls (0.32, P=0.040). The odds ratio (95%CI) for an elite endurance Chinese athlete to carry the G allele compared with ethnically matched controls was 1.381 (1.015-1.880) (P-value=0.04). Our findings suggest that the ACSL1 gene polymorphism rs6552828 is not associated with elite endurance athletic status in Caucasians, yet a marginal association seems to exist for the Chinese (Han) male population.
    PLoS ONE 01/2012; 7(7):e41268. · 3.53 Impact Factor
  • Alfredo Santalla, José Naranjo, Nicolás Terrados
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    ABSTRACT: To determine the change in muscular efficiency in world-class professional cyclists during years of training/competition. Twelve male world-class professional road cyclists (mean +/- SD: age = 22.6 +/- 3.8 yr and VO(2max) = 75.5 +/- 3.3 mL x kg(-1) x min(-1)) performed an incremental test (starting at 100 W with workload increases of 50 W every 4-min interval until volitional exhaustion) before and after a five-season period. Delta efficiency (DE) was calculated from 100 W to that power output (PO) in which the RER was 1. DE increased (P < 0.01) from 23.61 +/- 2.78% to 26.97 +/- 3.7% from the first to the fifth year, whereas VO(2max) showed no significant increase. A significant inverse correlation (r = -0.620; P = 0.032) between DE and VO(2max) (mL x kg(-1) x min(-1)) was found in the fifth year, whereas no significant correlation between these variables was found in the first year. A significant inverse correlation (r = -0.63; P = 0.029) was found between the increase percentage in DE (DeltaDE) and VO(2max) (mL x kg(-1) x min(-1)) in the fifth year, whereas no significant correlation was found between these variables in the first year. The results show an increase in DE in world-class professional cyclists during a five-season training/competition period, without significant variations in VO(2max). The results also suggest that the increase in DE could be a possible way for performance compensation, especially in those subjects with lower VO(2max).
    Medicine and science in sports and exercise 04/2009; 41(5):1096-101. · 4.48 Impact Factor
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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. · 2.27 Impact Factor
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    ABSTRACT: The aim of this study was to determine the effects of Rotor, a new cycle crank configuration that effectively allows the pedals to move independently throughout the duty cycle, on indices of endurance cycling performance in trained cyclists. Ten cyclists (5 Rotor users and 5 non-users; age (mean +/- SD): 22 +/- 5 y; VO(2)max: 69.5 +/- 5.1 mL. kg(-1).min(-1)) volunteered to participate in the study. On four separate days, the subjects performed four cycle-ergometer tests, i.e. two incremental tests and two 20-min tests. An imposed crank rate of 75 rev.min(-1) was used during all tests. The incremental protocol started at 112.5 W, and the power output was increased by 37.5 W every 3 min until volitional exhaustion. The 20-min tests were performed at a fixed power output equivalent to 80 % of the highest power output that the cyclists maintained for a complete 3-min period during incremental tests. Both types of tests were performed with the conventional crank system and the Rotor following a counter-balanced, cross-over design. Gas exchange parameters were measured in all the tests and blood lactate was determined at the end of each 3-min period (incremental tests) and at the end of the 20-min tests. A three factor (pedalling system used during the tests x habitual pedalling system x power output [incremental tests] or time [20-min tests]) ANOVA with repeated measures on power output (incremental tests) or time (20-min tests) was used to analyse several indices of performance, e.g. peak power output, VO(2)max, lactate threshold, onset of blood lactate accumulation, economy, delta, and gross efficiency. No differences (p > 0.05) were found between the Rotor and conventional systems for any of the aforementioned variables. It seems that the theoretical advantage brought about by the Rotor system, i.e. improved contra-lateral cooperation of both legs, would be minimized in trained cyclists. Although field studies are needed to assess the possible implications, in terms of actual racing, of the new system, commonly used indicators of endurance cycling performance do not seem to be improved with the Rotor in trained cyclists.
    International Journal of Sports Medicine 11/2004; 25(7):479-85. · 2.27 Impact Factor
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    ABSTRACT: To investigate the relationship between several physiological variables that can be easily obtained during cycle ergometer gradual testing (for example, peak power output (W(peak)), Vo(2max), or ventilatory threshold (VT)) and actual (>50 km) time trials (TT) time performance during the Tour de France. We collected data in professional cyclists from the first TT of the 1998 Tour de France (TT1, 58 km distance; n = 6 cyclists) and the first (TT2, 56.5 km; n = 5) and second TT of the 1999 Tour de France (TT3, 57 km; n = 5). A negative relationship was found between power output (W) at VT (VT(Watt)) and TT final time (s) in TT1 (r = -0.864; p = 0.026; standard error of estimate (SEE) of 73 s; and 95% confidence limits (95% CL) -0.98; -0.18), TT2 (r = -0.77; p = 0.27; SEE of 139 s; and 95% CL -0.98; 0.35), and TT3 (r = -0.923; p = 0.025; SEE of 94 s; and 95% CL -1.00; -0.22). Actual performance in long TT during the Tour de France (>50 km distance, performed after at least 1-2 weeks of continuous competition), in which some cumulative fatigue inevitably occurs, is related, at least in part, to the power output that elicits the VT. No other routine physiological variable (for example, Vo(2max) or W(peak)) is related to performance in this type of event.
    British journal of sports medicine 10/2004; 38(5):636-40. · 3.67 Impact Factor
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    ABSTRACT: To determine the effects of changes in pedaling frequency on the gross efficiency (GE) and other physiological variables (oxygen uptake (VO2), HR, lactate, pH, ventilation, motor unit recruitment estimated by EMG) of professional cyclists while generating high power outputs (PO). Following a counterbalanced, cross-over design, eight professional cyclists (age (mean +/- SD): 26 +/- 2 yr, VO2max: 74.0 +/- 5.7 mL x kg x min) performed three 6-min bouts at a fixed PO (mean of 366 +/- 37 W) and at a cadence of 60, 80, and 100 rpm. Values of GE averaged 22.4 +/- 1.7, 23.6 +/- 1.8 and 24.2 +/- 2.0% at 60, 80, and 100 rpm, respectively. Mean GE at 100 rpm was significantly higher than at 60 rpm (P < 0.05). Similarly, mean values of VO2, HR, rates of perceived exertion (RPE), lactate and normalized root-mean square EMG (rms-EMG) in both vastus lateralis and gluteus maximum muscles decreased at increasing cadences. In professional road cyclists riding at high PO, GE/economy improves at increasing pedaling cadences.
    Medicine &amp Science in Sports &amp Exercise 06/2004; 36(6):1048-54. · 4.48 Impact Factor
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    ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
    Medicine &amp Science in Sports &amp Exercise 06/2003; 35(7):1240-1241. · 4.48 Impact Factor
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    ABSTRACT: To compare the total exercise loads (intensity x volume) of the Vuelta a España and Tour de France during the last year. Seven professional road cyclists (28 +/- 1 yr; [OV0312]O(2max): 74.6 +/- 2.2 who participated in both Tour and Vuelta during the years 1997, 1999, 2000, or 2001 were collected as subjects. They wore a heart rate (HR) telemeter during each stage of the two races, and exercise intensity was divided into three phases according to the reference HR values obtained during a previous ramp cycle-ergometer test: phase I (<ventilatory threshold (VT)), phase II (between VT and the respiratory compensation point (RCP)) and phase III (>RCP). Total volume and intensity were integrated as a single variable. The score for volume x intensity in each phase was computed by multiplying the accumulated duration in this phase by a multiplier for this particular phase. The total score for Tour and Vuelta was obtained by summating the results of the three phases. The total loads (volume x intensity) did not significantly differ between the two races (P > 0.05), despite a significantly longer total exercise time of the Tour (P < 0.05) (5552 +/- 176 vs 5086 +/- 290 min). The physiological loads imposed on cyclists' bodies do not differ between the Tour and Vuelta, despite the longer duration of daily stages in the former race.
    Medicine &amp Science in Sports &amp Exercise 06/2003; 35(5):872-8. · 4.48 Impact Factor
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    ABSTRACT: To determine the effects of electrical stimulation (ES) on oxygen uptake (VO(2)) kinetics and delta efficiency (DE) during gradual exercise. The hypothesis was that ES would attenuate the VO(2)-workload relation and improve DE. Fifteen healthy, untrained men (mean (SD) age 22 (5) years) were selected. Ten were electrostimulated on both quadriceps muscles with a frequency of 45-60 Hz, with 12 seconds of stimulation followed by eight seconds recovery for a total of 30 minutes a day, three days a week for six weeks. The remaining five subjects were assigned to a control group. A standardised exercise test on a cycle ergometer (ramp protocol, workload increases of 20 W/min) was performed by each subject before and after the experimental period. The slope of the VO(2)-power output (W) relation (deltaVO(2)/deltaW) and DE were calculated in each subject at moderate to high intensities (above the ventilatory threshold-that is, from 50-60% to 100% VO(2)max). The mean (SEM) values for deltaVO(2)/deltaW and DE had significantly decreased and increased respectively after the six week ES programme (p<0.05; 9.8 (0.2) v 8.6 (0.5) ml O(2)/W/min respectively and 27.7 (0.9) v 31.5 (1.4)% respectively). ES could be used as a supplementary tool to improve two of the main determinants of endurance capacity, namely VO(2) kinetics and work efficiency.
    British Journal of Sports Medicine 04/2003; 37(2):140-3. · 3.67 Impact Factor
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    ABSTRACT: We examined the effects of pre-exercise sodium bicarbonate (NaHCO3) ingestion on the slow component of oxygen uptake (VO2) kinetics in seven professional road cyclists during intense exercise. One hour after ingesting either a placebo or NaHCO3 (0.3 g x kg body mass(-1)), each cyclist (age, 25 +/- 2 years; VO2max, 74.7 +/- 5.9 ml x kg(-1) x min(-1); mean +/- s) performed two bouts of 6 min duration at an intensity of 90% VO2max interspersed by 8 min of active recovery. Gas exchange and blood data (pH, blood lactate concentration and [HCO3-]) were collected during the tests. In both bouts, the slow component of VO2 was defined as the difference between end-exercise VO2 and the VO2 at the end of the third minute. No significant difference was found in the slow component of VO2 between conditions in the first (NaHCO3, 210 +/- 69 ml; placebo, 239 +/- 105 ml) or second trial (NaHCO3, 123 +/- 88 ml; placebo, 197 +/- 101 ml). In conclusion, pre-exercise NaHCO3 ingestion did not significantly attenuate the VO2 slow component of professional road cyclists during high-intensity exercise.
    Journal of Sports Sciences 02/2003; 21(1):39-47. · 2.08 Impact Factor

Publication Stats

352 Citations
91.25 Total Impact Points


  • 2009–2014
    • Universidad Pablo de Olavide
      • • Faculty of Sports
      • • Department of Sports and Computer Sciences
      Hispalis, Andalusia, Spain
  • 2013
    • University of Castilla-La Mancha
      Toledo, Castille-La Mancha, Spain
  • 2002–2003
    • European University of Madrid
      • Department of Morphological Sciences, Physiology, and Biomedicine
      Madrid, Madrid, Spain
    • Universidad Alfonso X el Sabio
      Madrid, Spain