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1.
Occup Med (Lond) ; 73(8): 512-517, 2023 12 29.
Article in English | MEDLINE | ID: mdl-38029440

ABSTRACT

BACKGROUND: In 2017, 69 108 work-related traffic injuries with medical leave were documented, constituting 12% of all occupational injuries (OI) in Spain. AIMS: The aim of this study was to describe OI within a Spanish bank company during 2017. METHODS: A cross-sectional analysis was conducted using the company's mandatory OI records, presenting data in both absolute (n) and relative (%) frequencies. The chi-square test was employed for comparisons. RESULTS: Among the company's 10 399 employees, 176 OI cases were recorded. Most were minor musculoskeletal incidents, with one severe myocardial infarction and one mild anxiety episode. Lower limb injuries were the most prevalent. Injuries of the trunk (P < 0.001), neck (P < 0.05), and upper limbs (P < 0.001) were linked to workplace factors. Approximately 62% of OI occurred outside the workplace and resulted in more extended medical leave (P < 0.01). Traffic-related injuries accounted for 39% of OI cases and caused 49% of days lost due to OI (P < 0.001).Female gender (P < 0.001) and age over 40 years (P < 0.05) were significantly associated with OI. CONCLUSIONS: In our study, musculoskeletal injuries were the most common, with a single cardiovascular event being the most severe. OI occurring outside the workplace was more frequent and led to longer medical leaves. Notably, traffic-related injuries were especially significant, exceeding official statistics 4-fold.


Subject(s)
Myocardial Infarction , Occupational Injuries , Humans , Female , Adult , Occupational Injuries/epidemiology , Occupational Injuries/etiology , Cross-Sectional Studies , Workplace , Myocardial Infarction/complications , Spain/epidemiology
2.
Transl Psychiatry ; 12(1): 146, 2022 04 07.
Article in English | MEDLINE | ID: mdl-35393390

ABSTRACT

Alcohol is part of the usual diet of millions of individuals worldwide. However, not all individuals who drink alcohol experience the same effects, nor will everyone develop an alcohol use disorder. Here we propose that the intestinal microbiota (IMB) helps explain the different consumption patterns of alcohol among individuals. 507 humans participated in this study and alcohol consumption and IMB composition were analyzed. On the other hand, in 80 adult male Wistar rats, behavioral tests, alcohol intoxication, fecal transplantation, administration of antibiotics and collection of fecal samples were performed. For identification and relative quantification of bacterial taxa was used the bacterial 16 S ribosomal RNA gene. In humans, we found that heavy episodic drinking is associated with a specific stool type phenotype (type 1, according to Bristol Stool Scale; p < 0.05) and with an increase in the abundance of Actinobacteria (p < 0.05). Next, using rats, we demonstrate that the transfer of IMB from alcohol-intoxicated animals causes an increase in voluntary alcohol consumption in transplant-recipient animals (p < 0.001). The relative quantification data indicate that the genus Porphyromonas could be associated with the effect on voluntary alcohol consumption. We also show that gut microbiota depletion by antibiotics administration causes a reduction in alcohol consumption (p < 0.001) and altered the relative abundance of relevant phyla such as Firmicutes, Bacteroidetes or Cyanobacteria (p < 0.05), among others. Benjamini-Hochberg false discovery rate (FDR) correction was performed for multiple comparisons. These studies reveal some of the consequences of alcohol on the IMB and provide evidence that manipulation of IMB may alter voluntary alcohol consumption.


Subject(s)
Gastrointestinal Microbiome , Alcohol Drinking , Animals , Anti-Bacterial Agents/pharmacology , Bacteria , Fecal Microbiota Transplantation , Male , Rats , Rats, Wistar
3.
Psychopharmacology (Berl) ; 236(4): 1187-1197, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30470859

ABSTRACT

RATIONALE: Only in Europe it can be estimated that more than 20 million of people would be affected by hypothyroidism in some moment of their life. Given that ethanol consumption is so frequent, it would be reasonable to ask what the consequences of ethanol consumption in those individuals affected by hypothyroidism are. OBJECTIVES: To study the interaction between hypothyroidism and ethanol consumption. METHODS: We study ethanol consumption in a rat model of methyl-mercaptoimidazole-induced-adult-onset hypothyroidism and thyroid T4/T3 hormone supplementation. Also, we studied the effects of ethanol on motor activity, memory, and anxiety. RESULTS: We found that hypothyroidism increased the voluntary ethanol consumption and that this was enhanced by thyroid hormone supplementation. Hypothyroidism was associated with motor hyperactivity which was prevented either by T4/T3 supplementation or ethanol. The relationship between hypothyroidism, ethanol, and anxiety was more complex. In an anxiogenic context, hypothyroidism and T4/T3 supplementation would increase immobility, an anxiety-like behavior, while in a less anxiogenic context would decrease rearing, a behavior related to anxiety. Regarding memory, acute ethanol administration did not alter episodic-like memory in hypothyroid rats. Gene expression of enzymes involved in the metabolism of ethanol, i.e., Adh1 and Aldh2, were altered by hypothyroidism and T4/T3 supplementation. CONCLUSIONS: Our results suggest that hypothyroid patients would need personalized attention in terms of ethanol consumption. In addition, they point that it would be useful to embrace the thyroid axis in the study of ethanol addiction, including as a possible therapeutic target for the treatment of alcoholism and its comorbid disorders.


Subject(s)
Alcohol Drinking/blood , Ethanol/administration & dosage , Hypothyroidism/blood , Age Factors , Alcohol Drinking/adverse effects , Alcohol Drinking/psychology , Aldehyde Dehydrogenase, Mitochondrial/blood , Animals , Anxiety/blood , Anxiety/psychology , Humans , Hypothyroidism/complications , Hypothyroidism/psychology , Male , Rats , Rats, Wistar , Thyroid Hormones/blood , Thyroxine/blood , Triiodothyronine/blood
4.
Pharmacopsychiatry ; 47(1): 33-6, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24127329

ABSTRACT

Despite progress made in the treatment of tobacco dependence, currently available treatments are effective for only a fraction of smokers. The aim of this study was to evaluate the association between the effectiveness of treatment with nicotine or bupropion in heavy smokers (n=70), and 6 candidate polymorphisms in CYP2A6, 5-HTT and HTR2A genes. Analysis revealed a significant association between "favourable" genotype combination carriers (CYP2A6 "slow metabolizer" or 5HTT L-allele or HTR2A-1438GG) and nicotine treatment outcome (OR=2.69, 95% CI=1.28-5.64). Genetic variations in CYP2A6 gene or genotypes associated with reduced synaptic serotonin activity may influence the success of smoking cessation treatment.


Subject(s)
Aryl Hydrocarbon Hydroxylases/genetics , Polymorphism, Genetic/genetics , Receptor, Serotonin, 5-HT2A/genetics , Serotonin Plasma Membrane Transport Proteins/genetics , Smoking Cessation , Tobacco Use Disorder/genetics , Tobacco Use Disorder/therapy , Adult , Bupropion/therapeutic use , Cytochrome P-450 CYP2A6 , Dopamine Uptake Inhibitors/therapeutic use , Female , Genetic Association Studies , Genotype , Humans , Male , Middle Aged , Nicotine/therapeutic use , Nicotinic Agonists/therapeutic use , Pharmacogenetics
5.
Scand J Med Sci Sports ; 23(3): e162-7, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23317015

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.


Subject(s)
Actinin/genetics , Athletic Performance , Swimming , White People/genetics , Adolescent , Adult , Bicycling , Case-Control Studies , Female , Heterozygote , Homozygote , Humans , Male , Polymorphism, Genetic , Running , Spain , Track and Field , Volleyball , Young Adult
6.
Int J Sports Med ; 33(7): 521-4, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22499569

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.


Subject(s)
Athletes , Nitric Oxide Synthase Type III/genetics , Soccer/physiology , Adolescent , Adult , Alleles , Gene Frequency , Genotype , Humans , Male , Physical Endurance/physiology , Polymorphism, Genetic , Spain , Young Adult
7.
Scand J Med Sci Sports ; 21(6): e34-41, 2011 Dec.
Article in English | MEDLINE | ID: mdl-20561285

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.


Subject(s)
Actinin/genetics , Athletes , Athletic Performance/physiology , Leg/physiology , Muscle Contraction/genetics , Muscle Strength/genetics , Polymorphism, Genetic , Volleyball/physiology , Female , Humans , Male , Muscle Contraction/physiology , Muscle Fibers, Fast-Twitch/metabolism , Muscle Strength/physiology , Sequence Analysis, DNA , Spain , Young Adult
8.
Scand J Med Sci Sports ; 21(4): 570-9, 2011 Aug.
Article in English | MEDLINE | ID: mdl-20459474

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.


Subject(s)
Athletic Performance/physiology , Muscle Strength/genetics , Physical Endurance/genetics , Polymorphism, Genetic , Adult , Genotype , Humans , Male , Microarray Analysis , Predictive Value of Tests , ROC Curve , Regression Analysis , Spain , Young Adult
9.
Int J Sports Med ; 32(2): 151-3, 2011 Feb.
Article in English | MEDLINE | ID: mdl-21110287

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.


Subject(s)
Athletes , Ethnicity/genetics , Heterotrimeric GTP-Binding Proteins/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Aged , Aged, 80 and over , Athletic Performance , Cohort Studies , Female , Genetic Association Studies , Genetic Testing , Genetics, Population , Genotype , Humans , Israel , Male , Middle Aged , Odds Ratio , Phenotype , Reproducibility of Results , Spain , Young Adult
10.
Int J Sports Med ; 31(4): 221-4, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20148371

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.


Subject(s)
Actinin/genetics , Muscle Strength/genetics , Muscle, Skeletal/physiology , Peptidyl-Dipeptidase A/genetics , Age Factors , Aged, 80 and over , Aging/physiology , Analysis of Variance , Exercise Test , Female , Genotype , Hand Strength/physiology , Humans , Male , Motor Activity/physiology , Muscle Contraction/genetics , Muscle Contraction/physiology , Phenotype , Polymorphism, Genetic , Sarcopenia/genetics , Sarcopenia/physiopathology , Spain , Walking/physiology
11.
Scand J Med Sci Sports ; 20(5): 771-8, 2010 Oct.
Article in English | MEDLINE | ID: mdl-19807896

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.


Subject(s)
Actinin/genetics , Motor Activity/genetics , Motor Activity/physiology , Muscle Strength/genetics , Muscle Strength/physiology , Muscle, Skeletal/physiology , Adult , Analysis of Variance , Chi-Square Distribution , Female , Gene Frequency , Genotype , Humans , Logistic Models , Male , Polymorphism, Genetic , Young Adult
12.
Scand J Med Sci Sports ; 20(1): e188-94, 2010 Feb.
Article in English | MEDLINE | ID: mdl-19422651

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.


Subject(s)
Multifactorial Inheritance , Polymorphism, Genetic , Sports/physiology , Adult , Genotype , Humans , Male , Physical Endurance/physiology , Spain , White People/genetics
13.
Int J Sports Med ; 30(5): 387-92, 2009 May.
Article in English | MEDLINE | ID: mdl-19277943

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.


Subject(s)
AMP Deaminase/genetics , Myostatin/genetics , Peptidyl-Dipeptidase A/genetics , Soccer/physiology , Adolescent , Adult , Alleles , Athletic Performance/physiology , Gene Frequency , Genotype , Humans , Male , Muscle Strength/physiology , Physical Endurance/physiology , Polymorphism, Genetic , Running/physiology , Young Adult
14.
Int J Sports Med ; 30(1): 66-72, 2009 Jan.
Article in English | MEDLINE | ID: mdl-18651373

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.


Subject(s)
Actinin/genetics , Bicycling , Peptidyl-Dipeptidase A/genetics , Physical Endurance/genetics , Adult , Analysis of Variance , Exercise Test , Genotype , Humans , Male , Phenotype , Pulmonary Ventilation/physiology , Respiratory Function Tests
15.
Br J Sports Med ; 43(4): 307-9, 2009 Apr.
Article in English | MEDLINE | ID: mdl-18662936

ABSTRACT

The cross-country world championship is one of the best models to study characteristics needed to achieve top-level endurance athletic capacity. We report the genotype combination of a recent cross-country champion (12 km race) in polymorphisms of seven genes that are candidates to influence endurance phenotype traits (ACTN3, ACE, PPARGC1A, AMPD1, CKMM, GDF8 (myostatin) and HFE). His data were compared with those of eight other runners (world-class but not world champions). The only athlete with the genotype theoretically more suited to attaining world-class endurance running performance was the case study subject. A favourable genetic endowment, together with exceptional environmental factors (years of altitude living and training in this case), seems to be necessary to attain the highest possible level of running endurance performance.


Subject(s)
Black People/genetics , Physical Endurance/genetics , Polymorphism, Genetic/genetics , Running/physiology , White People/genetics , AMP Deaminase/genetics , Actinin/genetics , Creatine Kinase, MM Form/genetics , Genotype , Heat-Shock Proteins/genetics , Hemochromatosis Protein , Histocompatibility Antigens Class I/genetics , Humans , Male , Membrane Proteins/genetics , Myostatin/genetics , Peptidyl-Dipeptidase A/genetics , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha , Transcription Factors/genetics
16.
Br J Sports Med ; 42(1): 71-3, 2008 Jan.
Article in English | MEDLINE | ID: mdl-17550918

ABSTRACT

The authors studied the frequency distribution of alpha-actinin-3 (ACTN3) R577X genotypes in 60 top-level professional soccer players. The results were compared with those of 52 elite endurance athletes and 123 sedentary controls. The per cent distribution of RR and RX genotypes in soccer players (48.3% and 36.7%) was significantly higher and lower, respectively, than controls (28.5% and 53.7%) and endurance athletes (26.5% and 52%) (p = 0.041). Although there are notable exceptions, elite soccer players tend to have the sprint/power ACTN3 genotype.


Subject(s)
Actinin/genetics , Soccer/physiology , Adult , Case-Control Studies , DNA/analysis , Genotype , Humans , Male , Physical Endurance/genetics , Polymerase Chain Reaction
17.
Br J Sports Med ; 42(2): 134-40, 2008 Feb.
Article in English | MEDLINE | ID: mdl-17616548

ABSTRACT

BACKGROUND: McArdle disease is an uncommon metabolic disorder usually characterized by marked exercise intolerance although great individual variability exists in its phenotypic manifestation. OBJECTIVE: The purpose of this study was to determine the association between angiotensin-converting enzyme (ACE) genotypes and indices of exercise capacity (peak oxygen uptake (VO(2)peak), ventilatory threshold (VT) and gross mechanical efficiency (GE)) in patients with McArdle disease. Based on previous research, it was hypothesized that the I allele might favourably influence exercise capacity. METHODS: Forty-four Spanish patients (23 males, 21 females) and 44 age-matched and gender-matched controls (23 males, 21 females) performed a graded cycle-ergometer test until exhaustion (for VO(2)peak and VT determination) and a 12 min constant-load test at the power output eliciting the VT (for GE determination). RESULTS: No significant difference (p>0.05) was found in indices of exercise capacity between ID + II genotypes and DD homozygotes in the group of male patients, male controls and female controls. However, in the group of female patients, the ID + II group (n = 11) had a higher VO(2)peak than DD homozygotes (n = 10) (15.8 (SEM 1.6) ml/kg/min versus 11.9 (SEM 0.9) ml/kg/min, respectively; p<0.05). CONCLUSIONS: The I allele of the ACE gene is associated with a higher functional capacity in female patients, and might partly explain the individual variability in the phenotypic manifestation of McArdle disease.


Subject(s)
Alleles , Exercise Tolerance/genetics , Exercise/physiology , Glycogen Storage Disease Type V/genetics , Peptidyl-Dipeptidase A/genetics , Adolescent , Adult , Aged , Case-Control Studies , Exercise Test/methods , Exercise Tolerance/physiology , Female , Genotype , Glycogen Storage Disease Type V/physiopathology , Heart Rate/genetics , Heart Rate/physiology , Humans , Male , Middle Aged , Oxygen Consumption/physiology , Physical Exertion/physiology
18.
Br J Sports Med ; 40(8): 725-6; discussion 726, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16864568

ABSTRACT

The case is reported of a 78 year old man with McArdle's disease and a history of treated coronary heart disease. Despite the pre-exercise administration of sucrose allowing the patient to exercise with normal physiological responses, and without typical McArdle's symptoms or biochemical evidence of muscle damage, his exercise capacity was very low (V(O2)peak = 10.7 ml/min/kg), probably attributable to his lifetime of sedentary living. The data suggest that, with pre-exercise sucrose administration, such patients may be candidates for systematic reconditioning, which may improve functional capacity and quality of life.


Subject(s)
Exercise/physiology , Glycogen Storage Disease Type V/therapy , Aged , Exercise Test/methods , Exercise Tolerance/physiology , Humans , Male , Oxygen Consumption/physiology , Quality of Life , Sucrose/administration & dosage
19.
Br J Sports Med ; 40(8): 719-22, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16807304

ABSTRACT

Mesenchymal cells recruited to damaged tissues must circulate through the bloodstream. The absolute numbers of circulating mesenchymal stem cells (cMSCs) in two different models of acute and chronic skeletal muscle injury were determined. cMSCs were present in significantly higher numbers in both models than in healthy controls. These results support the hypothesis that MSCs are mobilised into the bloodstream after skeletal muscle tissue damage. These two models (acute and chronic) would be of value in the search for molecular mediators of mobilisation of MSCs into the circulation.


Subject(s)
Athletic Injuries/metabolism , Mesenchymal Stem Cells/metabolism , Muscle, Skeletal/injuries , Running/physiology , Adult , Cell Movement/physiology , Creatine Kinase/blood , Female , Flow Cytometry , Glycogen Storage Disease Type V/metabolism , Humans , Male , Middle Aged , Muscle, Skeletal/blood supply , Muscle, Skeletal/metabolism
20.
Int J Sports Med ; 27(7): 560-6, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16802252

ABSTRACT

Atopic-related factors, humoral and mucosal immunoglobulins (Ig), and cortisol were measured in 17 professional cyclists competing in the 2003 Vuelta a España (a three-week multi-stage race). Venous blood and saliva samples were obtained the morning before the start of the race (T0), on the first rest day after 10 days of racing (T1), and before the start of the last stage after 21 days of racing (T2). Atopic-related factors, IgE, eosinophil cationic protein (ECP), and eosinophils, were significantly altered during the race. Serum IgE (T1: + 10 %) and ECP (salivary, T1: 113 % and serum, T2: 155 %) were significantly increased, while eosinophils (T1: - 32 %, T2: - 55 %) were significantly lower, than pre-race levels. Salivary sIgA secretion rate was significantly decreased at T2 (- 36 %). Pearson product-moment correlations revealed a modest correlation between salivary sIgA and salivary ECP (T1: r = 0.30; T2: r = 0.48; p < 0.01). Serum IgM, total IgG, IgG1, IgG2, IgA levels, at T1 and T2, and cortisol at T2, were significantly lower than pre-race levels. In conclusion, the elevation in IgE and ECP suggests an up-regulation of atopic-related factors in professional cyclists participating in the Vuelta a España. The correlation between salivary sIgA and salivary ECP indicates a role for sIgA in mediating mucosal inflammation. The alterations in Ig levels may indicate Ig isotype switching. An increasing state of hormonal fatigue may have influenced the observed immune alterations.


Subject(s)
Bicycling/physiology , Biomarkers/metabolism , Immunoglobulins/metabolism , Analysis of Variance , Eosinophil Granule Proteins/metabolism , Eosinophils/metabolism , Humans , Hydrocortisone/metabolism , Immunoglobulin E/metabolism , Male , Spain
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