Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.

Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

Effects of post-exercise cold-water immersion on performance and perceptive outcomes of competitive adolescent swimmers.

PURPOSE: To evaluate the effects of repeated use of cold-water immersion (CWI) during a training week on performance and perceptive outcomes in competitive adolescent swimmers. METHODS: This randomized-crossover study included 20 athletes, who received each intervention [CWI (14 ± 1 °C), thermoneutral water immersion (TWI) (27 ± 1 °C) as placebo, and passive recovery (PAS)] three times a week between the land-based resistance training and swim training. The interventions were performed in a randomized order with a 1-week wash-out period. We tested athletes before and after each intervention week regarding swim (100 m freestyle sprints) and functional performance (flexibility, upper and lower body power, and shoulder proprioception). We monitored athlete's perceptions (well-being, heaviness, tiredness, discomfort and pain) during testing sessions using a 5-item questionnaire. Athlete preferences regarding the interventions were assessed at the end of the study. We used generalized linear mixed models and generalized estimating equations for continuous and categorical variables, respectively (intervention x time). RESULTS: We found a time effect for swim performance (p = .01) in which, regardless the intervention, all athletes improved sprint time at post-intervention compared to baseline. There was an intervention effect for pain (p = .04) and tiredness (p = .04), but with no significant post-hoc comparisons. We found no significant effects for other outcomes. All athletes reported a preference for CWI or TWI in relation to PAS. CONCLUSION: The repeated use of CWI throughout a training week did not impact functional or swim performance outcomes of competitive adolescent swimmers. Perceptive outcomes were also similar across interventions; however, athletes indicated a preference for both CWI and TWI.

The effects of sleep deprivation, acute hypoxia, and exercise on cognitive performance: A multi-experiment combined stressors study.

INTRODUCTION: Both sleep deprivation and hypoxia have been shown to impair executive function. Conversely, moderate intensity exercise is known to improve executive function. In a multi-experiment study, we tested the hypotheses that moderate intensity exercise would ameliorate any decline in executive function after i) three consecutive nights of partial sleep deprivation (PSD) (Experiment 1) and ii) the isolated and combined effects of a single night of total sleep deprivation (TSD) and acute hypoxia (Experiment 2). METHODS: Using a rigorous randomised controlled crossover design, 12 healthy participants volunteered in each experiment (24 total, 5 females). In both experiments seven executive function tasks (2-choice reaction time, logical relations, manikin, mathematical processing, 1-back, 2-back, 3-back) were completed at rest and during 20 min semi-recumbent, moderate intensity cycling. Tasks were completed in the following conditions: before and after three consecutive nights of PSD and habitual sleep (Experiment 1) and in normoxia and acute hypoxia (FIO2 = 0.12) following one night of habitual sleep and one night of TSD (Experiment 2). RESULTS: Although the effects of three nights of PSD on executive functions were inconsistent, one night of TSD (regardless of hypoxic status) reduced executive functions. Significantly, regardless of sleep or hypoxic status, executive functions are improved during an acute bout of moderate intensity exercise. CONCLUSION: These novel data indicate that moderate intensity exercise improves executive function performance after both PSD and TSD, regardless of hypoxic status. The key determinants and/or mechanism(s) responsible for this improvement still need to be elucidated. Future work should seek to identify these mechanisms and translate these significant findings into occupational and skilled performance settings.

Repeated Massage Improves Swimmers' Perceptions during Training Sessions but Not Sprint and Functional Performance: A Randomized Controlled Trial.

This study aimed to investigate the effects of repeated massage adjusted for swimmers' training on the perceptive, functional, and performance outcomes of a sprint. We also investigated the effects of a single short massage on swimmers' self-reported perceptions after resistance training. This cross-over randomized controlled trial with concealed allocation, assessor blinding, and intention-to-treat analysis included 19 male and female competitive swimmers between 12 and 20 years old. Participants were subjected to three 12-min interventions over a week between resistance and swim training and monitored regarding training load and perceptions. After the intervention week we assessed: perceptive (well-being, heaviness, tiredness, discomfort, and pain), performance (sprint time, FINA points, and stroke characteristics), and functional outcomes (flexibility, squat jump, bench press, proprioception), in addition to athlete beliefs and preferences. A massage was defined as consisting of sliding movements on the arms, back, and anterior thigh, with metronomic rhythm control (1:1), and was divided into two protocols: superficial massage (SM) (light touch) and deep massage (DM) (light, moderate, intense effleurage) while the control (CON) rested. After repeated massage (SM and SM), participants had less chances to report tiredness, and they also maintained perceptions of well-being while CON got worse throughout the week. However, we found evidence of worsening of the perceptions of heaviness and pain at the main stages of the swim training for the massage groups. SM and DM had no effects over sprint and functional performance. Our results suggest that the swimmers were able to train harder with no harm to recovery.

What Parameters Influence the Effect of Cold-Water Immersion on Muscle Soreness? An Updated Systematic Review and Meta-Analysis.

OBJECTIVE: Our objective was to determine the efficacy of cold-water immersion (CWI) on the management of muscle soreness to identify the impact of immersion time, water temperature, CWI protocol, and type of exercise on this outcome. DESIGN: Intervention systematic review and meta-analysis. SETTING: MEDLINE/PubMed, Embase, Central, and SPORTDiscus databases were searched from their earliest record to July 30, 2020. Only randomized controlled trials that assessed muscle soreness comparing CWI and control were included. Studies were pooled in different subgroups regarding the used protocol: water temperature (severe or moderate cold), immersion time (short, medium, or longer time), CWI protocol (intermittent or continuous application), and type of exercise (endurance or resistance exercise). Data were pooled in a meta-analysis and described as weighted mean difference (95% confidence interval, P < 0.05). PARTICIPANTS: Athletes and nonathletes. INTERVENTIONS: Cold-water immersion and control condition. MAIN OUTCOME MEASURES: Muscle soreness. RESULTS: Forty-four studies were included. For immediate effects, CWI was superior to control regardless of water temperature and protocol, and for short and medium immersion times and endurance exercises. For delayed effects, CWI was superior to control in all subgroups except longer immersions time. CONCLUSIONS: This study suggests that CWI is better than control for the management of muscle soreness and water temperature and CWI protocol do not influence this result, but only short and medium immersions times presented positive effects. Aiming immediate effects, the best results suggest CWI application only after endurance exercises, while delayed effect CWI was superior both after endurance and resistance exercises.

Photobiomodulation therapy applied during an exercise-training program does not promote additional effects in trained individuals: A randomized placebo-controlled trial.

BACKGROUND: Previous studies have shown positive results of photobiomodulation (PBM) for improving performance and accelerating post-exercise recovery. However, the effects of PBM in healthy individuals who underwent a neuromuscular adaptation training remain unclear. OBJECTIVE: To investigate the effects of PBM during a training program combining sprints and explosive squats exercises on clinical, functional, and systemic outcomes in trained healthy individuals compared to a placebo intervention and a control. METHODS: We conducted a randomized placebo-controlled trial. Healthy males were randomly assigned to three groups: active PBM (30 J per site), placebo, or control (passive recovery). The participants performed a six-week (12 sessions) of a training program consisting of a combination of sprints and squats with recovery applied between sprints and squats. To prevent the influence of the primary neuromuscular adaptation to exercise on the results, all participants had to participate in a period of six weeks of exercise training program. Functional, clinical, and psychological outcomes and vascular endothelial growth factor (VEGF) were assessed at baseline and after six weeks. Results are expressed as mean difference (MD) and 95% confidence intervals (CI). RESULTS: Thirty-nine healthy male volunteers (aged 18-30 years; body mass index 23.9 ±â€¯3 kg/m²) were recruited. There was no significant time by group interaction, and no significant effect of group, but there was a significant effect of time for maximal voluntary isometric contraction (primary outcome) (MD=22 Nm/kg; 95%CI: 3.9, 40) and for squat jump (MD=1.6 cm; 95CI%: 0.7, 2.5). There was no significant interaction (time*group), time, or group effect for the other outcomes. CONCLUSION: The addition of PBM to a combined training performed for six weeks in previously trained individuals did not result in additional benefits compared to placebo or no additional intervention.

Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB.

Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by impaired phagocyte function, recurrent fungal and bacterial infections and granuloma formation in multiple organs. Pediatric myelodysplastic Syndrome (MDS) is a rare hematological stem cell disease that leads to an ineffective hematopoiesis with variable risk of evolution to acute leukemias. Both disorders are rare and have distinct pathophysiologic mechanisms, with no known association. A 7-month-old boy presenting with recurrent infections and anemia at age 2 months underwent immunological, hematological and genetic investigation that culminated in the diagnosis of both CGD and MDS. Next generation sequencing was performed and identified a silent variant predicted as of Uncertain Significance, located in the splicing site at the end of exon 5 in CYBB. CYBB variants account for at least two thirds of CGD cases, but no previous descriptions of this variant were found in ClinVar or The Human Gene Mutation Database (HGMD) databases. We were able to demonstrate an exon 5 skipping on the proband's cDNA, which strongly suggests the disruption of the NADPH oxidase complex, abrogating the formation of reactive oxygen species from neutrophils. Moreover, erythroid cell lineage could be also affected by NADPH oxidase complex damages. Further investigation is needed to evaluate the potential effect of CYBB gene alterations in hematopoiesis, as well as in MDS and CGD association.

Are plain-language summaries included in published reports of evidence about physiotherapy interventions? Analysis of 4421 randomised trials, systematic reviews and guidelines on the Physiotherapy Evidence Database (PEDro).

BACKGROUND: A plain-language summary is a short and clearly stated version of a study's results using non-scientific vocabulary that provide many advantages for patients and clinicians in the process of shared decision-making. OBJECTIVES: The primary objective was to investigate the extent to which published reports of physiotherapy interventions provide plain-language summaries. We investigate as the secondary objectives if the available plain-language summaries are at a suitable reading level for a lay person and if inclusion of plain-language summaries in these reports is increasing over time and is associated with trial quality (i.e. PEDro score). DATA SOURCES: All 4421 randomised controlled trials (RCT), systematic reviews and clinical practice guidelines that included plain-language summaries indexed on Physiotherapy Evidence Database (PEDro) were included. MAIN OUTCOME MEASURES: Proportion of published reports with plain-language summaries, Flesch Reading Ease Score (FRES) and the Flesch-Kincaid Grade Level (FKGL). RESULTS: The number of published reports with a plain-language summary doubled in the last 6 years. From a total of 34,444 reports indexed on PEDro, only 4421 reports had English plain-language summaries. RCTs with plain-language summaries had higher PEDro scores than RCTs without plain-language summaries (mean difference=0.8 points, 95%CI 0.7 to 0.8). Only 2% of reports were considered at a suitable reading level by the FKGL formula and 0.1% by the FRES formula. CONCLUSIONS: Although the publication of plain-language summaries is increasing over time, the current number corresponds to only 13% of all published reports. In addition the majority of plain-language summaries are written at an advanced reading level.

Advice for acute low back pain: a comparison of what research supports and what guidelines recommend.

BACKGROUND: Advice is widely considered an effective treatment for acute low back pain (LBP); however, details on what and how to deliver this intervention is less clear. PURPOSE: We assessed and compared clinical trials that test advice for acute LBP with practice guidelines for their completeness of reporting and concordance on the content, method of delivery, and treatment regimen of advice interventions. DESIGN/SETTING: Systematic review. METHODS: Advice randomized controlled trials were identified through a systematic search. Guidelines were taken from recent overviews of guidelines for LBP. Completeness of reporting was assessed using the Template for Intervention Description and Replication checklist. Thematic analysis was used to characterize advice interventions into topics across the aspects of content, method of delivery, and regimen. Concordance between clinical trials and guidelines was assessed by comparing the number of trials that found a statistically significant treatment effect for an intervention that included a specific advice topic with the number of guidelines recommending that topic. RESULTS: The median (interquartile range) completeness of reporting for clinical trials and guidelines was 8 (7-9) and 3 (2-4) out of nine items on the Template for Intervention Description and Replication checklist, respectively. Guideline recommendations were discordant with clinical trials for 50% of the advice topics identified. CONCLUSION: Completeness of reporting was less than ideal for randomized controlled trials and extremely poor for guidelines. The recommendations made in guidelines of advice for acute LBP were often not concordant with the results of clinical trials. Taken together, these findings mean that the potential clinical value of advice interventions for patients with acute LBP is probably not being realized.

Reliability and validity of two multidimensional self-reported physical activity questionnaires in people with chronic low back pain.

BACKGROUND: Although there is some evidence for reliability and validity of self-report physical activity (PA) questionnaires in the general adult population, it is unclear whether we can assume similar measurement properties in people with chronic low back pain (LBP). OBJECTIVE: To determine the test-retest reliability of the International Physical Activity Questionnaire (IPAQ) long-version and the Baecke Physical Activity Questionnaire (BPAQ) and their criterion-related validity against data derived from accelerometers in patients with chronic LBP. DESIGN: Cross-sectional study. METHODS: Patients with non-specific chronic LBP were recruited. Each participant attended the clinic twice (one week interval) and completed self-report PA. Accelerometer measures >7 days included time spent in moderate-and-vigorous physical activity, steps/day, counts/minute, and vector magnitude counts/minute. Intraclass Correlation Coefficients (ICC) and Bland and Altman method were used to determine reliability and spearman rho correlation were used for criterion-related validity. RESULTS: A total of 73 patients were included in our analyses. The reliability analyses revealed that the BPAQ and its subscales have moderate to excellent reliability (ICC2,1: 0.61 to 0.81), whereas IPAQ and most IPAQ domains (except walking) showed poor reliability (ICC2,1: 0.20 to 0.40). The Bland and Altman method revealed larger discrepancies for the IPAQ. For the validity analysis, questionnaire and accelerometer measures showed at best fair correlation (rho < 0.37). CONCLUSIONS: Although the BPAQ showed better reliability than the IPAQ long-version, both questionnaires did not demonstrate acceptable validity against accelerometer data. These findings suggest that questionnaire and accelerometer PA measures should not be used interchangeably in this population.

Fear of Movement Is Not Associated With Objective and Subjective Physical Activity Levels in Chronic Nonspecific Low Back Pain.

OBJECTIVES: To assess the association of physical activity measures, derived with an accelerometer and a self-reported questionnaire, with fear of movement in patients with chronic nonspecific low back pain (LBP) and to investigate the association between disability and fear of movement in this population. DESIGN: Cross-sectional study. SETTING: Outpatient physical therapy university clinics. PARTICIPANTS: Patients (N=119) presenting with nonspecific LBP of >3 months' duration. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Physical activity levels measured objectively with an accelerometer (ie, counts per minute, time spent in moderate-to-vigorous and light physical activity per day, number of steps per day, and number of 10-minute bouts of moderate-to-vigorous physical activity per day) and subjectively with a self-reported questionnaire (Baecke Physical Activity Questionnaire); fear of movement (Tampa Scale of Kinesiophobia); pain (11-point numerical rating scale); disability (Roland Morris Disability Questionnaire); and depression (Beck Depression Inventory). The associations were examined with correlational, univariate, and multivariable linear regression analyses. RESULTS: None of the objective physical activity measures were associated with fear of movement. The apparent association of self-reported physical activity levels with fear of movement (correlational analyses: r=-.18; P<.05; univariate regression analyses: ß=-.04; 95% confidence interval [CI], -.07 to -.01; P=.04) was not confirmed in multivariable analyses. Fear of movement was consistently associated with disability in both correlational (r=.42; P<.01) and multivariable (ß=.21; 95% CI, .11-.31; P<.001) analyses. CONCLUSIONS: Our data support one aspect of the fear-avoidance model-that higher fear of movement is associated with more disability-but not the aspect of the model linking fear of movement with inactivity.