Publications by authors named "Beatriz Lara"

93 Publications

Similar ergogenic effect of caffeine on anaerobic performance in men and women athletes.

Eur J Nutr 2021 Feb 19. Epub 2021 Feb 19.

Centre for Sport Studies, Rey Juan Carlos University, Fuenlabrada, Spain.

Purpose: Caffeine is widely considered an ergogenic aid to increase anaerobic performance although most of this evidence is supported by investigations with only male samples. To date, it is unknown if the ergogenic effect of caffeine on anaerobic performance is of similar magnitude in men and women athletes. The aim of this study was to determine the magnitude of the ergogenic effect of caffeine on the Wingate test in men and women.

Methods: In a double-blind, placebo-controlled, cross-over experimental trial, ten women athletes and ten men athletes performed a 15-s adapted version of the Wingate test after ingesting 3 mg of caffeine per kg of body mass or a placebo (cellulose).

Results: In comparison to the performance obtained in the 15-s Wingate test with a placebo, caffeine increased peak power in men (9.9 ± 0.8 vs. 10.1 ± 0.8 W/kg, p < 0.01, d = 0.26) and in women (8.8 ± 0.9 vs. 9.1 ± 0.8 W/kg, p = 0.04, d = 0.30). Caffeine was also effective to increase the mean power in men (8.9 ± 0.7 vs. 9.0 ± 0.7 W/kg, p = 0.01, d = 0.21) and women (8.1 ± 0.7 vs. 8.3 ± 0.7 W/kg, p = 0.01, d = 0.27). The ergogenic effect of caffeine on the 15-s Wingate peak power (2.3 ± 3.2% in men and 3.2 ± 2.8% in women; p = 0.46) and mean power (2.0 ± 1.7% and 2.4 ± 2.3%, respectively; p = 0.93) was of similar magnitude in both sexes.

Conclusion: Acute ingestion of 3 mg kg of caffeine enhanced peak and mean cycling power during a 15-s adapted version of the Wingate test in men and women and the ergogenic effect was of similar magnitude in both sexes. This information suggests that both men and women athletes might obtain similar benefits from caffeine supplementation during anaerobic exercise.
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http://dx.doi.org/10.1007/s00394-021-02510-6DOI Listing
February 2021

Pre-exercise Caffeine Intake Enhances Bench Press Strength Training Adaptations.

Front Nutr 2021 26;8:622564. Epub 2021 Jan 26.

Exercise Physiology Laboratory, Camilo José Cela University, Madrid, Spain.

Previous research has identified acute caffeine intake as an effective ergogenic aid to enhance velocity and power during bench press exercise. However, no previous investigation has analyzed the effects of chronic intake of caffeine on training adaptations induced by bench press strength training. Thus, the aim of this investigation was to determine the effects of pre-exercise caffeine intake on training adaptations induced by a bench press training protocol. Using a double-blind, randomized experimental design, 16 healthy participants underwent a bench press training protocol for 4 weeks (12 sessions). Seven participants ingested a placebo and nine participants ingested 3 mg/kg/BM of caffeine before each training session. Three days before, and 3 days after the completion of the training protocol, participants performed a one-repetition maximum (1RM) bench press and force-velocity test (from 10 to 100% 1RM). From comparable pre-training values, the strength training similarly increased 1RM in the caffeine and placebo groups (+13.5 ± 7.8% vs. +11.3 ± 5.3%, respectively; = 0.53). In the caffeine group, the strength training induced a higher mean velocity at 40%, (0.81 ± 0.08 vs. 0.90 ± 0.14 m/s), 60% (0.60 ± 0.06 vs. 0.65 ± 0.06 m/s), 70% (0.47 ± 0.05 vs. 0.55 ± 0.06 m/s), 80% (0.37 ± 0.06 vs. 0.45 ± 0.05 m/s), 90% (0.26 ± 0.07 vs. 0.34 ± 0.06 m/s), and 100% 1RM (0.14 ± 0.04 vs. 0.25 ± 0.05 m/s; < 0.05) while the increases in the placebo group were evident only at 30 (0.95 ± 0.06 vs. 1.03 ± 0.07 m/s), 70% (0.51 ± 0.03 vs. 0.57 ± 0.05 m/s) and 80% 1RM (0.37 ± 0.06 vs. 0.45 ± 0.05 m/s) ( < 0.05). The placebo group only increased peak velocity at 60 and 70% 1RM ( < 0.05) while peak velocity increased at 10%, and from 30 to 100% 1RM in the caffeine group ( < 0.05). The use of 3 mg/kg/BM of caffeine before exercise did not modify improvements in 1RM obtained during a 4 week bench press strength training program but induced more muscle performance adaptations over a wider range of load.
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http://dx.doi.org/10.3389/fnut.2021.622564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7870503PMC
January 2021

Research priorities in α-antitrypsin deficiency: results of a patients' and healthcare providers' international survey from the EARCO Clinical Research Collaboration.

ERJ Open Res 2020 Oct 21;6(4). Epub 2020 Dec 21.

Pulmonology Dept, Centro Hospitalar do Porto, Porto, Portugal.

α-antitrypsin deficiency (AATD) is a rare and under-recognised genetic condition. Owing to its low prevalence, international initiatives are key for conducting high-quality research in the field. From July 2018 to December 2019, the European Alpha-1 Research Collaboration (EARCO) developed and conducted two surveys, one for healthcare providers and one for patients and caregivers, aiming to identify research priorities and barriers in access to treatment for AATD. A survey on 164 research questions was electronically sent to 230 AATD experts in Europe, and 94 completed surveys from 24 countries were received. The top research areas identified by healthcare providers were causes of variable progression and poor outcomes, improvement in diagnosis, initiation and optimal dosing of augmentation therapy and effectiveness of self-management interventions. During the same period, 438 surveys were completed by patients and caregivers from 26 countries. The top research areas identified were improving knowledge about AATD, in particular among general practitioners, access to AATD specialised centres and access to reliable, easy to understand information about living with AATD. Regarding barriers to treatment, participants from countries where augmentation therapy was reimbursed prioritised improving knowledge in AATD, while respondents in non-reimbursed countries regarded access to AATD augmentation therapy and to specialised centres as the most relevant. The main research and management priorities identified by healthcare providers and patients included understanding the natural history of AATD, improving information to physicians, improving access to specialised reference centres, personalising treatment and having equal opportunities for access to existing therapies.
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http://dx.doi.org/10.1183/23120541.00523-2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792815PMC
October 2020

Rehabilitation Exercise and psycholoGical support After covid-19 InfectioN' (REGAIN): a structured summary of a study protocol for a randomised controlled trial.

Trials 2021 Jan 6;22(1). Epub 2021 Jan 6.

Warwick Clinical Trials Unit, Warwick Medical School, University of Warwick, Coventry, UK.

Objectives: The primary objective is to determine which of two interventions: 1) an eight week, online, home-based, supervised, group rehabilitation programme (REGAIN); or 2) a single online session of advice (best-practice usual care); is the most clinically and cost-effective treatment for people with ongoing COVID-19 sequelae more than three months after hospital discharge.

Trial Design: Multi-centre, 2-arm (1:1 ratio) parallel group, randomised controlled trial with embedded process evaluation and health economic evaluation.

Participants: Adults with ongoing COVID-19 sequelae more than three months after hospital discharge Inclusion criteria: 1) Adults ≥18 years; 2) ≥ 3 months after any hospital discharge related to COVID-19 infection, regardless of need for critical care or ventilatory support; 3) substantial (as defined by the participant) COVID-19 related physical and/or mental health problems; 4) access to, and able/supported to use email and internet audio/video; 4) able to provide informed consent; 5) able to understand spoken and written English, Bengali, Gujarati, Urdu, Punjabi or Mandarin, themselves or supported by family/friends.

Exclusion Criteria: 1) exercise contraindicated; 2) severe mental health problems preventing engagement; 3) previous randomisation in the present study; 4) already engaged in, or planning to engage in an alternative NHS rehabilitation programme in the next 12 weeks; 5) a member of the same household previously randomised in the present study.

Intervention And Comparator: Intervention 1: The Rehabilitation Exercise and psycholoGical support After covid-19 InfectioN (REGAIN) programme: an eight week, online, home-based, supervised, group rehabilitation programme. Intervention 2: A thirty-minute, on-line, one-to-one consultation with a REGAIN practitioner (best-practice usual care).

Main Outcomes: The primary outcome is health-related quality of life (HRQoL) - PROMIS® 29+2 Profile v2.1 (PROPr) - measured at three months post-randomisation. Secondary outcomes include dyspnoea, cognitive function, health utility, physical activity participation, post-traumatic stress disorder (PTSD) symptom severity, depressive and anxiety symptoms, work status, health and social care resource use, death - measured at three, six and 12 months post-randomisation.

Randomisation: Participants will be randomised to best practice usual care or the REGAIN programme on a 1:1.03 basis using a computer-generated randomisation sequence, performed by minimisation and stratified by age, level of hospital care, and case level mental health symptomatology. Once consent and baseline questionnaires have been completed by the participant online at home, randomisation will be performed automatically by a bespoke web-based system.

Blinding (masking): To ensure allocation concealment from both participant and REGAIN practitioner at baseline, randomisation will be performed only after the baseline questionnaires have been completed online at home by the participant. After randomisation has been performed, participants and REGAIN practitioners cannot be blind to group allocation. Follow-up outcome assessments will be completed by participants online at home.

Numbers To Be Randomised (sample Size): A total of 535 participants will be randomised: 263 to the best-practice usual care arm, and 272 participants to the REGAIN programme arm.

Trial Status: Current protocol: Version 3.0 (27th October 2020) Recruitment will begin in December 2020 and is anticipated to complete by September 2021.

Trial Registration: ISRCTN:11466448 , 23rd November 2020 FULL PROTOCOL: The full protocol Version 3.0 (27th October 2020) is attached as an additional file, accessible from the Trials website (Additional file 1). In the interests of expediting dissemination of this material, the familiar formatting has been eliminated; this Letter serves as a summary of the key elements of the full protocol. The study protocol has been reported in accordance with the Standard Protocol Items: Recommendations for Clinical Interventional Trials (SPIRIT) guidelines.
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http://dx.doi.org/10.1186/s13063-020-04978-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785779PMC
January 2021

Outcomes of adverse analytical findings in individual and team sports.

Bioanalysis 2021 Jan 16;13(1):5-11. Epub 2020 Dec 16.

Centre for Sport Studies, Rey Juan Carlos University, Fuenlabrada, Spain.

The aim of this investigation was to describe the outcomes of the adverse analytical findings in different Olympic sports. The data included were gathered from the World Anti-Doping Agency Anti-doping Rule Violations Reports (2013-2017). Weightlifting (78.1 ± 9.4%) wrestling (73.2 ± 18.5%) and volleyball (68.3 ± 18.7%) were the sports with the highest proportion of cases that ended in an antidoping sanction. Gymnastics (45.1 ± 10.1%), triathlon (32.6 ± 11.9%) and shooting (29.9 ± 14.1%) were the sports with a higher frequency of cases that were not sanctioned due to medical reasons. Gymnastics (22.4 ± 18.4%), boxing (23.2 ± 16.0%) and taekwondo (17.3.1 ± 16.4%) presented the highest proportion of cases that are still pending resolution. The proportion of cases that ended in no sanction was higher in fencing (26.2 ± 22.7%), skating (23.6 ± 35.1%) and tennis (18.6 ± 26.5%). These results indicate that the sanctions derived from antidoping rule violations were not uniform in all sports disciplines.
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http://dx.doi.org/10.4155/bio-2020-0263DOI Listing
January 2021

Time Course and Magnitude of Tolerance to the Ergogenic Effect of Caffeine on the Second Ventilatory Threshold.

Life (Basel) 2020 Dec 10;10(12). Epub 2020 Dec 10.

Centre for Sport Studies, Rey Juan Carlos University, 28943 Fuenlabrada, Spain.

Pre-exercise caffeine ingestion has been shown to increase the workload at ventilatory threshold, suggesting an ergogenic effect of this stimulant on submaximal aerobic exercise. However, the time course of tolerance to the effect of caffeine on ventilatory threshold is unknown. This study aimed to determine the evolution of tolerance to the ergogenic effect of caffeine on the ventilatory threshold.

Methods: Eleven participants (age 32.3 ± 4.9 yrs, height 171 ± 8 cm, body mass 66.6 ± 13.6 kg, VO = 48.0 ± 3.8 mL/kg/min) took part in a longitudinal, double-blind, placebo-controlled, randomized, crossover experimental design. Each participant took part in two identical treatments: in one treatment, participants ingested a capsule containing 3 mg of caffeine per kg of body mass per day (mg/kg/day) for twenty consecutive days; in the other treatment, participants ingested a capsule filled with a placebo for the same duration and frequency. During these treatments, participants performed a maximal ramp test on a cycle ergometer three times per week and the second ventilatory threshold (VT) was assessed by using the ventilatory equivalents for oxygen and carbon dioxide.

Results: A two-way ANOVA with repeated measures (substance × time) revealed statistically significant main effects of caffeine ( < 0.01) and time ( = 0.04) on the wattage obtained at VT, although there was no interaction ( = 0.09). In comparison to the placebo, caffeine increased the workload at VT on days 1, 4, 6 and 15 of ingestion ( < 0.05). The size of the ergogenic effect of caffeine over the placebo on the workload at VT was progressively reduced with the duration of the treatment. In addition, there were main effects of caffeine ( = 0.03) and time ( = 0.16) on VO obtained at VT, with no interaction ( = 0.49). Specifically, caffeine increased oxygen uptake at VT on days 1 and 4 ( < 0.05), with no other caffeine-placebo differences afterwards. For heart rate obtained at VT, there was a main effect of substance ( < 0.01), while the overall effect of time ( = 0.13) and the interaction ( = 0.22) did not reach statistical significance. Heart rate at VT was higher with caffeine than with the placebo on days 1 and 4 ( < 0.05). The size of the effect of caffeine on VO and heart at VT tended to decline over time.

Conclusion: Pre-exercise intake of 3 mg/kg/day of caffeine for twenty days enhanced the wattage obtained at VT during cycling ramp tests for ~15 days of ingestion, while there was a progressive attenuation of the size of the ergogenic effect of caffeine on this performance variable. Therefore, habituation to caffeine through daily ingestion may reduce the ergogenic effect of this stimulant on aerobic exercise of submaximal intensity.
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http://dx.doi.org/10.3390/life10120343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7764462PMC
December 2020

Caffeine Increases Muscle Performance During a Bench Press Training Session.

J Hum Kinet 2020 Aug 31;74:185-193. Epub 2020 Aug 31.

Camilo José Cela University. Exercise Physiology Laboratory. Madrid, Spain.

Previous investigations have established the ergogenic effect of caffeine on maximal muscle strength, power output and strength-endurance. However, these investigations used testing protocols that do not replicate the structure of a regular strength training session. Thus, the aim of this study was to investigate the effect of acute caffeine ingestion on muscle performance during a simulated velocity-based training workout. In a double-blind, randomized and counterbalanced experiment, 12 participants performed two experimental trials after ingesting 3 mg/kg/b.m. of caffeine or a placebo. The trials consisted of 4 sets of 8 repetitions of the bench press exercise at 70% of their one-repetition maximum performed at maximal velocity. Bar velocity was recorded with a rotatory encoder and force, power output and work were calculated. Regarding the whole workout, caffeine increased mean bar velocity (+7.8%; p=0.002), peak bar velocity (+8.7%; p=0.006), mean force (+1.5%; p=0.002), mean power output (+10.1%; p=0.003) and peak power output (+8.2%; p=0.004) when compared to the placebo. The total work performed in the caffeine trial was superior to the placebo trial (7.01±2.36 vs 6.55±2.20 kJ, p=0.001). These results suggest that the acute intake of 3 mg/kg/b.m. of caffeine before a velocity-based strength workout increased muscle performance and the total work performed across the whole training session. Thus, caffeine can be considered as an effective strategy to enhance muscle performance during the bench press training sessions.
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http://dx.doi.org/10.2478/hukin-2020-0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706635PMC
August 2020

-Synephrine, the main protoalkaloid of , raises fat oxidation during exercise in elite cyclists.

Eur J Sport Sci 2020 Sep 17:1-10. Epub 2020 Sep 17.

Centre for Sport Studies, Rey Juan Carlos University.

The aim of this study was to investigate the acute effects of -synephrine ingestion on substrate oxidation during exercise in elite cyclists. Fifteen elite cyclists volunteered to participate in a double blind, crossover, randomized and placebo-controlled experimental trial. During two different trials, participants either ingested a placebo (cellulose) or 3 mg/kg of -synephrine. After 60 min for substances absorption, participants performed an incremental maximal cycle ergometer test until volitional fatigue (25 W/min). Breath-by-breath gas exchange data was continuously recorded during the entire test to estimate energy expenditure, carbohydrate oxidation, and fat oxidation rates by stoichiometric equations. Heart rate was continuously measured by using a heart rate monitor. The ingestion of -synephrine had no significant effects on energy expenditure (F = 0.71,   0.40) or heart rate (F = 0.66,   0.43) during exercise. However, there was a main effect of -synephrine to increase the rate of fat oxidation over the placebo (F = 5.1,   0.04) and the rate of fat oxidation was higher with -synephrine in the following loads: 45 ± 2%, 51 ± 3%, 62 ± 3%, 67 ± 4%, 79 ± 5% and 85 ± 5% of the maximum wattage obtained in the test (all  < 0.05). The ingestion of -synephrine did not modify the maximal rate of fat oxidation during the ramp test (mean value; 95%CI =  0.91; 0.79-1.03 vs 1.01; 0.91-1.11 g/min, respectively,  = 0.06) nor the exercise intensity at which maximal fat oxidation was achieved (i.e. Fatmax =  49; 48-53 vs 50; 47-51% Wmax,  = 0.52). Acute -synephrine ingestion moved the fat oxidation-exercise intensity curve upwards during an incremental cycling test without affecting Fatmax.
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http://dx.doi.org/10.1080/17461391.2020.1817154DOI Listing
September 2020

miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.

Arch Bronconeumol 2020 May 18. Epub 2020 May 18.

Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII), CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address:

Introduction: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition resulting in lung and liver disease with a great clinical variability. MicroRNAs have been identified as disease modifiers; therefore miRNA deregulation could play an important role in disease heterogeneity. Members of miR-320 family are involved in regulating of multiple processes including inflammation, and have potential specific binding sites in the 3'UTR region of SERPINA1 gene. In this study we explore the involvement of miR-320c, a member of this family, in this disease.

Methods: Firstly in vitro studies were carried out to demonstrate regulation of SERPINA1 gene by miR-320. Furthermore, the expression of miR-320c was analyzed in the blood of 98 individuals with different AAT serum levels by using quantitative PCR and expression was correlated to clinical parameters of the patients. Finally, HL60 cells were used to analyze induction of miR-320c in inflammatory conditions.

Results: Overexpression of miR-320 members in human HepG2 cells led to inhibition of SERPINA1 expression. Analysis of miR-320c expression in patient's samples revealed significantly increased expression of miR-320c in individuals with pulmonary disease. Additionally, HL60 cells treated with the pro-inflammatory factor lipopolysaccharide (LPS) showed increase in miR-320c expression, suggesting that miR-320c responds to inflammation.

Conclusion: Our findings demonstrate that miR-320c inhibits SERPINA1 expression in a hepatic cell line and its levels in blood are associated with lung disease in a cohort of patients with different AAT serum levels. These results suggest that miR-320c can play a role in AAT regulation and could be a biomarker of inflammatory processes in pulmonary diseases.
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http://dx.doi.org/10.1016/j.arbres.2020.03.006DOI Listing
May 2020

Protocol for the EARCO Registry: a pan-European observational study in patients with α-antitrypsin deficiency.

ERJ Open Res 2020 Jan 2;6(1). Epub 2020 Mar 2.

Pneumology Dept, Hospital Universitari Vall d'Hebron/Vall d'Hebron Research Institute (VHIR), CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.

Rationale And Objectives: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that leads to an increased risk of emphysema and liver disease. Despite extensive investigation, there remain unanswered questions concerning the natural history, pathophysiology, genetics and the prognosis of the lung disease in association with AATD. The European Alpha-1 Clinical Research Collaboration (EARCO) is designed to bring together researchers from European countries and to create a standardised database for the follow-up of patients with AATD.

Study Design And Population: The EARCO Registry is a non-interventional, multicentre, pan-European, longitudinal observational cohort study enrolling patients with AATD. Data will be collected prospectively without interference/modification of patient's management by the study team. The major inclusion criterion is diagnosed severe AATD, defined by an AAT serum level <11 µM (50 mg·dL) and/or a proteinase inhibitor genotype ZZ, SZ or compound heterozygotes or homozygotes of other rare deficient variants. Assessments at baseline and during the yearly follow-up visits include lung function testing (spirometry, body plethysmography and diffusing capacity of the lung), exercise capacity, blood tests and questionnaires (symptoms, quality of life and physical activity). To ensure correct data collection, there will be designated investigator staff to document the data in the case report form. All data will be reviewed by the EARCO database manager.

Summary: The EARCO Registry aims to understand the natural history and prognosis of AATD better with the goal to create and validate prognostic tools to support medical decision-making.
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http://dx.doi.org/10.1183/23120541.00181-2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049712PMC
January 2020

Effects of Caffeine and Coffee on Human Functioning.

Nutrients 2020 01 2;12(1). Epub 2020 Jan 2.

Exercise Physiology Laboratory, Camilo José Cela University, 28692 Madrid, Spain.

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http://dx.doi.org/10.3390/nu12010125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019838PMC
January 2020

Time course of tolerance to adverse effects associated with the ingestion of a moderate dose of caffeine.

Eur J Nutr 2020 Oct 3;59(7):3293-3302. Epub 2020 Jan 3.

Centre for Sport Studies, Rey Juan Carlos University, C/Camino del Molino, s/n, 28943, Fuenlabrada, Spain.

Purpose: This study aimed to identify and describe the time course of tolerance to the most common caffeine-induced side effects.

Methods: Eleven participants took part in a crossover, double-blind placebo-controlled experimental design. In one phase, participants ingested 3 mg/kg/day of caffeine for 20 days, while in another phase, they ingested a placebo. Resting heart rate and blood pressure were measured three times per week during each 20-day phase and a quantitative survey was used to categorise the magnitude of side effects.

Results: In the pairwise comparison with the placebo, the ingestion of caffeine increased systolic (+ 7.8 ± 10.1%, P < 0.05) and diastolic blood pressure (+ 6.4 ± 12.9% P < 0.05) for the first 8 days of ingestion, but then this effect became attenuated for both outcomes (on day 20, - 1.1 ± 4.3% and + 0.9 ± 9.6%, respectively). The ingestion of caffeine did not affect heart rate at any time point. Caffeine increased the feelings of nervousness and vigour and the rating of gastrointestinal complaints, insomnia and diuresis at several time points in the treatment (P < 0.05) and they did not disappear after 20 days of ingestion.

Conclusions: The daily intake of 3 mg/kg of caffeine induced a meaningful elevation in arterial blood pressure that disappeared after 8 days. However, other caffeine-induced effects such as increased nervousness and vigour, irritability, insomnia and diuresis remained after 20 days of consecutive caffeine ingestion. Although there was clear tolerance to the effect of caffeine on blood pressure, the persistence of other side effects suggests the inconvenience of maintaining a chronic caffeine intake, at least at the dose of 3 mg/kg/day.
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http://dx.doi.org/10.1007/s00394-019-02167-2DOI Listing
October 2020

Acute caffeine intake increases muscle oxygen saturation during a maximal incremental exercise test.

Br J Clin Pharmacol 2020 05 14;86(5):861-867. Epub 2020 Jan 14.

Centre for Sport Studies, Rey Juan Carlos University, Fuenlabrada, Spain.

Aims: The main mechanism behind caffeine's ergogenicity lies in its tendency to bind to adenosine receptors, although other mechanisms might be involved. The aim of this investigation was to analyse the effects of caffeine on muscle oxygen saturation during exercise of increasing intensity.

Methods: Thirteen healthy and active individuals volunteered to participate in a randomized, double blind, placebo-controlled crossover trial. During 2 different trials, participants either ingested a placebo (cellulose) or 3 mg/kg of caffeine. After waiting for 60 min to absorb the substances, participants underwent a maximal ramp cycle ergometer test (25 W/min). Near infrared spectrometers were positioned on each leg's vastus lateralis to monitor tissue O saturation. Blood lactate concentration was measured 1 min after the end of the exercise test.

Results: In comparison to the placebo, the ingestion of caffeine improved the maximal wattage (258 ± 50 vs 271 ± 54 W, respectively, P < .001, effect size [ES] = 0.27; 95% confidence interval [CI] 0.14-0.35) and blood lactate concentration (11.9 ± 3.8 vs 13.7 ± 3.5 mmol/L, P = .029, ES = 0.38; 95% CI 0.14-0.75) at the end of the test. Caffeine increased muscle oxygen saturation at several exercise workloads with a main effect found in respect to the placebo (F = 6.28, P = .029; ES = 0.30 to 0.54; 95% CI 0.01-0.78). Peak pulmonary ventilation (124 ± 29 vs 129 ± 23 L/min, P = 0.035, ES = 0.25; 95% CI 0.07-0.40) and peak oxygen uptake (3.18 ± 0.70 vs 3.33 ± 0.88 L/min, P = 0.032, ES = 0.26; 95% CI 0.08-0.51) were also increased with caffeine.

Conclusion: Acute ingestion of 3 mg/kg of caffeine improved peak aerobic performance and increased peak pulmonary ventilation. In addition, caffeine induced changes in muscle oxygen saturation during submaximal workloads, suggesting that this mechanism might also contribute to caffeine's ergogenic effect.
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http://dx.doi.org/10.1111/bcp.14189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163369PMC
May 2020

Acute caffeine intake increases performance in the 15-s Wingate test during the menstrual cycle.

Br J Clin Pharmacol 2020 04 6;86(4):745-752. Epub 2020 Jan 6.

Centre for Sport Studies, Rey Juan Carlos University, Fuenlabrada, Spain.

Aims: In male athletes, caffeine is considered an ergogenic aid to increase anaerobic performance during the Wingate anaerobic test (WANT). However, information about the effect of caffeine on WANT performance in female athletes is contradictory. Furthermore, it is unknown whether the ergogenicity of caffeine is present during all the phases of the menstrual cycle. The aim of this study was to investigate the effects of caffeine intake on WANT performance during 3 phases of the menstrual cycle.

Methods: Thirteen well-trained eumenorrhoeic triathletes participated in a double-blind, placebo-controlled, cross-over experimental trial. On 2 different days in each phase, and in randomized order, participants ingested caffeine (3 mg kg ) or a placebo (cellulose). The menstrual cycle phases were individually characterized as follows: (i) early follicular; (ii) preovulatory; and (iii) midluteal. In each trial, participants performed a 15-s adapted version of the WANT.

Results: In comparison to the placebo, caffeine increased peak power during the WANT in the early follicular (8.6 ± 0.8 vs 8.9 ± 0.9 W/kg, P = .04; effect size [d] = 0.45), preovulatory (8.6 ± 0.9 vs 8.9 ± 0.9 W/kg, P = .04; d = 0.23) and mid-luteal phases (8.6 ± 0.8 vs 8.9 ± 0.9 W/kg, P < .01; d = 0.52).

Conclusion: The ergogenic effect of caffeine on WANT peak cycling power was of a similar magnitude in the follicular, preovulatory, and mid-luteal phases. These results suggest that caffeine increases performance in the 15-s Wingate test in women athletes and it might be considered an ergogenic aid to increase anaerobic performance in eumenorrhoeic women during their menstrual cycle.
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http://dx.doi.org/10.1111/bcp.14175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098873PMC
April 2020

Ergogenic effects of caffeine on peak aerobic cycling power during the menstrual cycle.

Eur J Nutr 2020 Sep 5;59(6):2525-2534. Epub 2019 Nov 5.

Centre for Sport Studies, Rey Juan Carlos University, Fuenlabrada, Spain.

Purpose: Recent investigations have established that the ingestion of a moderate dose of caffeine (3-6 mg kg) can increase exercise and sports performance in women. However, it is unknown whether the ergogenicity of caffeine is similar during all phases of the menstrual cycle. The aim of this investigation was to determine the ergogenic effects of caffeine in three phases of the menstrual cycle.

Methods: Thirteen well-trained eumenorrheic triathletes (age = 31 ± 6 years; body mass = 58.6 ± 7.8 kg) participated in a double-blind, cross-over, randomised experimental trial. In the (1) early follicular (EF); (2) preovulation (PO); (3) and mid luteal (ML) phases, participants either ingested a placebo (cellulose) or 3 mg kg of caffeine in an opaque and unidentifiable capsule. After a 60-min wait for substance absorption, participants performed an incremental maximal cycle ergometer test until volitional fatigue (25 W/min) to assess peak aerobic cycling power (Wmax).

Results: In comparison to the placebo, caffeine increased Wmax in the EF (4.13 ± 0.69 vs. 4.24 ± 0.71 W kg, Δ = 2.7 ± 3.3%, P = 0.01), in the PO (4.14 ± 0.70 vs. 4.27 ± 0.73 W kg, Δ = 3.3 ± 5.0%; P = 0.03) and in the ML (4.15 ± 0.69 vs. 4.29 ± 0.67 W kg, Δ = 3.6 ± 5.1%; P = 0.01) phases. The magnitude of the caffeine ergogenic effect was similar during all of the menstrual cycle phases (P = 0.85).

Conclusion: Caffeine increased peak aerobic cycling power in the early follicular, preovulatory, and mid luteal phases. Thus, the ingestion of 3 mg of caffeine per kg of body mass might be considered an ergogenic aid for eumenorrheic women during all three phases of the menstrual cycle.
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http://dx.doi.org/10.1007/s00394-019-02100-7DOI Listing
September 2020

The Effect of Caffeine on the Velocity of Half-Squat Exercise during the Menstrual Cycle: A Randomized Controlled Trial.

Nutrients 2019 Nov 4;11(11). Epub 2019 Nov 4.

Exercise Physiology Laboratory, Camilo José Cela University, 28692 Madrid, Spain.

Recent literature confirms the ergogenic effect of acute caffeine intake to increase muscle strength and power in men. However, the information about the effect of caffeine on muscle performance in women is uncertain and it is unknown whether its ergogenicity is similar during the menstrual cycle. The goal of this investigation was to assess the effect of acute caffeine intake on mean and peak velocity of half-squat exercise during three different phases of the menstrual cycle. Thirteen trained eumenorrheic athletes (age = 31 ± 6 years; body mass = 58.6 ± 7.8 kg) participated in a double-blind, crossover and randomized experimental trial. In the early follicular (EFP), late follicular (LFP) and mid luteal phases (MLP), participants either ingested a placebo (cellulose) or 3 mg/kg/bm of caffeine in an opaque and unidentifiable capsule. In each trial, participants performed a half-squat exercise at maximal velocity with loads equivalent to 20%, 40% 60% and 80% of one repetition maximum (1RM). In each load, mean and peak velocity were measured during the concentric phase of the exercise using a rotatory encoder. In comparison to the placebo, a two-way ANOVA showed that the ingestion of 3 mg/kg/bm of caffeine increased mean velocity at 60% 1RM in EFP (Δ = 1.4 ± 2.7%, = 0.04; ES: 0.2 ± 0.2) and LFP (Δ = 5.0 ± 10.4%, = 0.04; ES: 0.3 ± 0.4). No other statistical differences were found for the caffeine-placebo comparison for mean velocity, but caffeine induced an ergogenic effect of small magnitude in all of the menstrual cycle phases. These results suggest that the acute intake of 3 mg/kg/bm of caffeine induces a small effect to increase movement velocity during resistance exercise in eumenorrheic female athletes. The positive effect of caffeine was of similar magnitude in all the three phases of the menstrual cycle.
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http://dx.doi.org/10.3390/nu11112662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893702PMC
November 2019

The Influence of the Menstrual Cycle on Muscle Strength and Power Performance.

J Hum Kinet 2019 Aug 21;68:123-133. Epub 2019 Aug 21.

Camilo José Cela University. Exercise Physiology Laboratory. Madrid, Spain.

This study aimed to investigate the fluctuations of muscle performance in the Smith machine half-squat exercise during three different phases of the menstrual cycle. Thirteen resistance-trained and eumenorrheic women volunteered to participate in the study (58.6 ± 7.8 kg, 31.1 ± 5.5 years). In a pre-experimental test, the half-squat one-repetition maximum (1RM) was measured. Body mass, tympanic temperature and urine concentration of the luteinizing hormone were estimated daily for ~30 days to determine the early follicular phase (EFP), the late follicular phase (LFP), and the mid-luteal phase (MLP) of the menstrual cycle. On the second day of each phase, performance of the Smith machine half-squats was assessed using 20, 40, 60 and 80% of one repetition maximum (1RM). In each load, force, velocity, and power output were measured during the concentric phase of the exercise by means of a rotatory encoder. The data were analyzed using one-way repeated measures ANOVA coupled with magnitude-based inferences. Overall, force, velocity and power output were very similar in all menstrual cycle phases with unclear differences in most of the pairwise comparisons and effect sizes >0.2. The results of this investigation suggest that eumenorrheic females have similar muscle strength and power performance in the Smith machine half-squat exercise during the EFP, LFP, and MLP phases of the menstrual cycle.
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http://dx.doi.org/10.2478/hukin-2019-0061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6724592PMC
August 2019

A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.

Rev Paul Pediatr 2019 3;37(4):520-524. Epub 2019 Jun 3.

Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.

Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family.

Case Description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele.

Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.
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http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821475PMC
March 2020

R577X Genotype and Exercise Phenotypes in Recreational Marathon Runners.

Genes (Basel) 2019 05 29;10(6). Epub 2019 May 29.

Faculty of Sport Sciences, Research Institute i+12, Universidad Europea de Madrid, 28670 Madrid, Spain.

: Homozygosity for the X-allele in the R577X (rs1815739) polymorphism results in the complete absence of α-actinin-3 in sarcomeres of fast-type muscle fibers. In elite athletes, the XX genotype has been related to inferior performance in speed and power-oriented sports; however, its influence on exercise phenotypes in recreational athletes has received less attention. We sought to determine the influence of genotypes on common exercise phenotypes in recreational marathon runners. : A total of 136 marathoners (116 men and 20 women) were subjected to laboratory testing that included measurements of body composition, isometric muscle force, muscle flexibility, ankle dorsiflexion, and the energy cost of running. genotyping was performed using TaqMan probes. : 37 runners (27.2%) had the RR genotype, 67 (49.3%) were RX and 32 (23.5%) were XX. There was a difference in body fat percentage between RR and XX genotype groups (15.7 ± 5.8 vs. 18.8 ± 5.5%; effect size, ES, = 0.5 ± 0.4, = 0.024), whereas the distance obtained in the sit-and-reach-test was likely lower in the RX than in the XX group (15.3 ± 7.8 vs. 18.4 ± 9.9 cm; ES = 0.4 ± 0.4, = 0.046). Maximal dorsiflexion during the weight-bearing lunge test was different in the RR and XX groups (54.8 ± 5.8 vs. 57.7 ± 5.1 degree; ES = 0.5 ± 0.5, = 0.044). Maximal isometric force was higher in the RR than in the XX group (16.7 ± 4.7 vs. 14.7 ± 4.0 N/kg; ES = -0.5 ± 0.3, = 0.038). There was no difference in the energy cost of running between genotypes (~4.8 J/kg/min for all three groups, ES ~0.2 ± 0.4). : The genotype might influence several exercise phenotypes in recreational marathoners. Deficiency in α-actinin-3 might be accompanied by higher body fatness, lower muscle strength and higher muscle flexibility and range of motion. Although there is not yet a scientific rationale for the use of commercial genetic tests to predict sports performance, recreational marathon runners who have performed such types of testing and have the XX genotype might perhaps benefit from personalized strength training to improve their performance more than their counterparts with other genotypes.
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http://dx.doi.org/10.3390/genes10060413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627880PMC
May 2019

Comprehensive analysis of different adhesives in aerobiological sampling using optical microscopy and high-throughput DNA sequencing.

J Environ Manage 2019 Jun 5;240:441-450. Epub 2019 Apr 5.

Universidad de Castilla-La Mancha, Instituto de Ciencias Ambientales (Botánica), Avda. Carlos III s/n, E-45071 Toledo, Spain. Electronic address:

The standardization and unification of the procedures to analyze and quantify the airborne pollen concentrations are very important topics. In this work, the effectiveness of the two most used adhesives in aerobiological sampling, silicone prepared with cyclohexane solvent (Silicone) and petroleum jelly (Vaseline), was compared under outdoor conditions. This comparison was carried out using the traditional method based on the identification and quantification by optical microscopy (OM) of the airborne pollen and the novel methodology by high-throughput sequencing analysis (HTS). Globally, the results from both methods of analysis (OM and HTS) showed a good agreement between the two adhesives tested regarding the abundance of the main pollen types present in the samples: Cupressaceae, Olea, Poaceae, Platanus, Quercus. We concluded that the results from both adhesives are comparable data. Furthermore, the comparisons between methodologies, OM vs. HTS, showed that both techniques can accurately identify the most abundant pollen types in the atmosphere for the studied periods, with a good agreement of their relative abundances especially when the airborne pollen diversity is low but showing some divergences as the number of pollen types increases.
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http://dx.doi.org/10.1016/j.jenvman.2019.03.116DOI Listing
June 2019

Challenging the Myth of Non-Response to the Ergogenic Effects of Caffeine Ingestion on Exercise Performance.

Nutrients 2019 Mar 29;11(4). Epub 2019 Mar 29.

Exercise Physiology Laboratory, Camilo José Cela University, 28692 Madrid, Spain.

The ergogenicity of caffeine on several exercise and sport situations is well-established. However, the extent of the ergogenic response to acute caffeine ingestion might greatly vary among individuals despite using the same dosage and timing. The existence of one or several individuals that obtained minimal ergogenic effects or even slightly ergolytic effects after caffeine intake (i.e., non-responders) has been reported in several previous investigations. Nevertheless, the concept non-responding to caffeine, in terms of physical performance, relies on investigations based on the measurement of one performance variable obtained once. Recently it has been suggested that correct identification of the individual ergogenic effect induced by caffeine intake requires the repeated measurement of physical performance in identical caffeine⁻placebo comparisons. In this communication, we present data from an investigation where the ergogenic effect of acute caffeine intake (3 mg/kg) was measured eight times over a placebo in the same individuals and under the same conditions by an incremental cycling test to volitional fatigue and an adapted version of the Wingate cycling test. The ergogenic response to caffeine varied from 9% to 1% among individuals, but all participants increased both cycling power in the incremental test and Wingate mean power at least three to eight times out of eight the caffeine⁻placebo comparisons. These data expand the suggestion of a minimal occurrence of caffeine non-responders because it shows that all individuals responded to caffeine when caffeine is compared to a placebo on multiple and repeated testing sessions.
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http://dx.doi.org/10.3390/nu11040732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521624PMC
March 2019

Time course of tolerance to the performance benefits of caffeine.

PLoS One 2019 23;14(1):e0210275. Epub 2019 Jan 23.

Camilo José Cela University, Exercise Physiology Laboratory, Madrid, Spain.

The ergogenic effect of acute caffeine ingestion has been widely investigated; however, scientific information regarding tolerance to the performance benefits of caffeine, when ingested on a day-to-day basis, is scarce. The aim of this investigation was to determine the time course of tolerance to the ergogenic effects of a moderate dose of caffeine. Eleven healthy active participants took part in a cross-over, double-blind, placebo-controlled experiment. In one treatment, they ingested 3 mg/kg/day of caffeine for 20 consecutive days while in another they ingested a placebo for 20 days. Each substance was administered daily in an opaque unidentifiable capsule, and the experimental trials started 45 min after capsule ingestion. Two days before, and three times per week during each 20-day treatment, aerobic peak power was measured with an incremental test to volitional fatigue (25 W/min) and aerobic peak power was measured with an adapted version of the Wingate test (15 s). In comparison to the placebo, the ingestion of caffeine increased peak cycling power in the incremental exercise test by ~4.0 ±1.3% for the first 15 days (P<0.05) but then this ergogenic effect lessened. Caffeine also increased peak cycling power during the Wingate test on days 1, 4, 15, and 18 of ingestion by ~4.9 ±0.9% (P<0.05). In both tests, the magnitude of the ergogenic effect of caffeine vs. placebo was higher on the first day of ingestion and then progressively decreased. These results show a continued ergogenic effect with the daily ingestion of caffeine for 15-18 days; however, the changes in the magnitude of this effect suggest progressive tolerance.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0210275PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343867PMC
October 2019

Elevation of Cardiac Troponins After Endurance Running Competitions.

Circulation 2019 01;139(5):709-711

Exercise Physiology Laboratory, Camilo José Cela University, Madrid, Spain.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.034655DOI Listing
January 2019

Effects of acute ingestion of caffeine on team sports performance: a systematic review and meta-analysis.

Res Sports Med 2019 Apr-Jun;27(2):238-256. Epub 2018 Dec 5.

a Exercise Physiology Laboratory , Camilo José Cela University , Madrid , Spain.

The aim of this investigation was to perform a systematic review and meta-analysis to determine the efficacy of the acute ingestion of caffeine (from 3 to 6 mg/kg) to increase performance on variables related to team sports. A systematic review was performed in scientific databases from January to April 2018. All studies included had cross-over experimental designs comparing caffeine to an identical placebo condition. A meta-analysis was performed using the random effects model and pooled standardized mean differences (Glass's Δ). Thirty-four studies published between 2001 and 2018 were included in the analysis. The meta-analysis revealed that caffeine increased single (Δ;95% confidence intervals = 0.19;0.14-0.25; p < 0.01) and repeated jump height (0.29;0.16-0.42; p < 0.01), single (0.16;0.02-0.30; p = 0.03) and repeated sprint velocity (0.14;0.03-0.25; p = 0.02), and reduced the time to complete agility tests (0.41;0.04-0.77; p = 0.03). During team sport matches, caffeine increased total running distance (0.41;0.20-0.62; p < 0.01), distance covered at sprint velocity (0.36;0.12-0.59; p < 0.01) and the number of sprints (0.44;0.18-0.69; p < 0.01). The acute ingestion of a moderate dose of caffeine had a small but significant positive effect on several aspects related to physical performance in team sports.
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http://dx.doi.org/10.1080/15438627.2018.1552146DOI Listing
October 2019

The CYP1A2 -163C>A polymorphism does not alter the effects of caffeine on basketball performance.

PLoS One 2018 18;13(4):e0195943. Epub 2018 Apr 18.

Exercise Physiology Laboratory, Camilo José Cela University, Madrid, Spain.

Purpose: The aim of this investigation was to analyze the influence of the genetic variations of the -163C>A polymorphism of the CYP1A2 gene on the ergogenic effects of caffeine in elite basketball players.

Methods: Nineteen elite basketball players (10 men and 9 women) ingested 3 mg⋅kg-1 of caffeine or a placebo 60 min before performing 10 repetitions of the following series: the Abalakov jump test followed by the Change-of-Direction and Acceleration Test (CODAT). The players then competed in a 20-min simulated basketball game. Self-perceived performance and side effects were recorded by questionnaires after the trials. The effects of caffeine on basketball performance were established according to players' CYP1A2 genotype (rs762551): AA homozygotes (n = 10) and C-allele carriers (n = 9).

Results: In the 10 repetitions, caffeine increased Abalakov jump height by a mean of 2.9±3.6% in AA homozygotes (p = 0.03) while this effect did not reach statistical significance for C-allele carriers (2.3 ± 6.8%; p = 0.33). Caffeine did not affect sprint time in the CODAT test in either genotype group but it increased the number of impacts performed during the simulated game in both AA homozygotes (4.1 ± 5.3%; p = 0.02) and C-allele carriers (3.3 ± 3.2%; p = 0.01). During the 24 h following the test, AA homozygotes tended to experience increased insomnia with caffeine while C-allele carriers did not present this effect. The remaining variables were unaffected by the genotype.

Conclusion: The CYP1A2 -163C>A polymorphism minimally altered the ergogenicity derived from the consumption of a moderate dose of caffeine in elite basketball players.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0195943PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905997PMC
July 2018

Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT).

Int J Chron Obstruct Pulmon Dis 2018 23;13:1001-1007. Epub 2018 Mar 23.

Pneumology Department, University Hospital Vall d'Hebron, Barcelona, Spain.

Background: The clinical course of alpha-1 antitrypsin deficiency (AATD) is very heterogeneous. It is estimated that 60% of individuals with severe AATD (Pi*ZZ) develop emphysema. The main objective of this study was to describe the outcomes of long-term lung function in individuals with AATD-associated emphysema after at least 8 years of follow-up.

Materials And Methods: We performed a retrospective analysis of longitudinal follow-up data of AATD PiZZ patients from the Spanish registry (AATD Spanish Registry [REDAAT]). The main follow-up outcome was the annual rate of decline in forced expiratory volume in 1 second (FEV) calculated using the FEV values at baseline and in the last post-bronchodilator spirometry available.

Results: One hundred and twenty-two AATD PiZZ patients were analyzed. The median follow-up was 11 years (interquartile range =9-14). The mean FEV decline was 28 mL/year (SD=54), with a median of 33 mL/year. Tobacco consumption (β=19.8, <0.001), previous pneumonia (β=27.8, =0.026) and higher baseline FEV% (β=0.798, =0.016) were independently related to a faster FEV decline.

Conclusion: In this large cohort with a long follow-up, we observed a very variable decline of FEV. However, the mean FEV decline was similar to that observed in large cohorts of smoking-related COPD. Tobacco consumption, previous pneumonia and better lung function at baseline were related to a faster decline in FEV. These results highlight the importance of early diagnosis and effective treatment.
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http://dx.doi.org/10.2147/COPD.S155226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870637PMC
October 2018

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.

Am J Respir Cell Mol Biol 2018 06;58(6):706-716

1 Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER).

The SERPINA1 gene is highly polymorphic, with more than 100 variants described in databases. SERPINA1 encodes the alpha-1 antitrypsin (AAT) protein, and severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases. In Spanish patients with AAT deficiency, we identified seven new variants of the SERPINA1 gene involving amino acid substitutions in different exons: PiSDonosti (S+Ser14Phe), PiTijarafe (Ile50Asn), PiSevilla (Ala58Asp), PiCadiz (Glu151Lys), PiTarragona (Phe227Cys), PiPuerto Real (Thr249Ala), and PiValencia (Lys328Glu). We examined the characteristics of these variants and the putative association with the disease. Mutant proteins were overexpressed in HEK293T cells, and AAT expression, polymerization, degradation, and secretion, as well as antielastase activity, were analyzed by periodic acid-Schiff staining, Western blotting, pulse-chase, and elastase inhibition assays. When overexpressed, S+S14F, I50N, A58D, F227C, and T249A variants formed intracellular polymers and did not secrete AAT protein. Both the E151K and K328E variants secreted AAT protein and did not form polymers, although K328E showed intracellular retention and reduced antielastase activity. We conclude that deficient variants may be more frequent than previously thought and that their discovery is possible only by the complete sequencing of the gene and subsequent functional characterization. Better knowledge of SERPINA1 variants would improve diagnosis and management of individuals with AAT deficiency.
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http://dx.doi.org/10.1165/rcmb.2017-0179OCDOI Listing
June 2018

Polygenic Profile and Exercise-Induced Muscle Damage by a Competitive Half-Ironman.

J Strength Cond Res 2020 May;34(5):1400-1408

Sports Sciences Department, Exercise Physiology Laboratory, Camilo José Cela University, Madrid, Spain.

Del Coso, J, Salinero, JJ, Lara, B, Gallo-Salazar, C, Areces, F, Herrero, D, and Puente, C. Polygenic profile and exercise-induced muscle damage by a competitive half-ironman. J Strength Cond Res 34(5): 1400-1408, 2020-To date, it is still unknown why some individuals develop higher levels of muscle damage than other individuals, despite participating in exercise with comparable levels of physical intensity. The aim of this investigation was to analyze 7 single-nucleotide polymorphisms (SNPs) that are candidates to explain individual variations in the level of muscle damage attained during a half-ironman competition. Using the model of Williams and Folland (2, 1, and 0 points for optimal, intermediate, and suboptimal genotype), we determined the total genotype score from the accumulated combination of 7 SNPs (ACE = 287bp Ins/Del; ACTN3 = p.R577X; creatine kinase, muscle type = NcoI; insulin-like growth factor 2 = C13790G; interleukin-6 = 174G>C; myosin light chain kinase = C37885A; and tumor necrosis factor-α = 308G>A) in 22 experienced triathletes. Before and after the race, a sample of venous blood was obtained to measure serum markers of muscle damage. Two groups of triathletes were established according to their postcompetition serum CK concentration: low CK responders (n = 10; 377 ± 86 U·L) vs. high CK responders (n = 12; 709 ± 136 U·L). At the end of the race, low CK responders had lower serum myoglobin concentrations (384 ± 243 vs. 597 ± 293 ng·ml, p = 0.04). Although the groups were similar in age, anthropometric characteristics, and training habits, total genotype score was higher in low CK responders than in high CK responders (7.7 ± 1.1 vs. 5.5 ± 1.1 point, p < 0.01). A favorable polygenic profile can contribute to reducing the level of muscle damage developed during endurance exercise.
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http://dx.doi.org/10.1519/JSC.0000000000002303DOI Listing
May 2020