Miracle-dz/UniFAR-FTUs huggingface dataset:
Physical inactivity and muscle oxidative capacity in humans

Abstract Physical inactivity is associated with a high prevalence of type 2 diabetes and is an independent predictor of mortality. It is possible that the detrimental effects of physical inactivity are mediated through a lack of adequate muscle oxidative capacity. This short review will cover the present literature on the effects of different models of inactivity on muscle oxidative capacity in humans. Effects of physical inactivity include decreased mitochondrial content, decreased activity of oxidative enzymes, changes in markers of oxidative stress and a decreased expression of genes and contents of proteins related to oxidative phosphorylation. With such a substantial down-regulation, it is likely that a range of adenosine triphosphate (ATP)-dependent pathways such as calcium signalling, respiratory capacity and apoptosis are affected by physical inactivity. However, this has not been investigated in humans, and further studies are required to substantiate this hypothesis, which could expand our knowledge of the potential link between lifestyle-related diseases and muscle oxidative capacity. Furthermore, even though a large body of literature reports the effect of physical training on muscle oxidative capacity, the adaptations that occur with physical inactivity may not always be opposite to that of physical training. Thus, it is concluded that studies on the effect of physical inactivity per se on muscle oxidative capacity in functional human skeletal muscle are warranted.
Ocular Adnexal Lymphoma Associated With IgG4+ Chronic Sclerosing Dacryoadenitis: A Previously Undescribed Complication of IgG4-related Sclerosing Disease

IgG4-related sclerosing disease is a recently recognized inflammatory lesion frequently involving pancreas, submandibular gland, lacrimal gland, and lymph node. We report 3 cases of ocular adnexal lymphoma arising in IgG4-related chronic sclerosing dacryoadenitis, a phenomenon that has not been previously reported. The patients presented with bilateral or unilateral ocular adnexal mass usually present for many years. One patient also had asymptomatic diffuse lymphadenopathy. Two patients had biopsy-proven IgG4-related chronic sclerosing dacryoadenitis before the current presentation, and 1 had systemic involvement by IgG4-related sclerosing disease as evidenced by increased IgG4+ cells in a prior nasopharyngeal biopsy. Two cases showed features of extranodal marginal zone lymphoma of mucosa-associated lymphoid-tissue type (1 with large cell transformation) and 1 follicular lymphoma. Thus, the lymphoid hyperplasia of IgG4-related sclerosing disease can provide a substrate for the emergence of lymphoma. In addition, we report 3 cases of ocular adnexal extranodal marginal zone B-cell lymphoma that show sclerosing inflammation in the background and numerous IgG4+ monotypic plasma cells. In the absence of prior biopsies or information on serum IgG4 titer, it is unclear whether these cases represent lymphoma complicating IgG4-related sclerosing disease or de novo lymphoma. Nonetheless, these cases are distinctive in that the neoplastic cells express IgG4 (light chain restricted), whereas unselected cases of ocular adnexal lymphomas do not show IgG4 expression.
Diagnostic guidelines for high‐resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96‐well LightScanner™

Genetic analysis of BRCA1 by sequencing is often preceded by a scanning method like denaturing gradient gel electrophoresis (DGGE), protein truncation test (PTT) or DHPLC. High‐resolution melting curve (HRM) analysis is a promising and economical method for high‐throughput mutation scanning. The EuroGentest network (www.eurogentest.org) aims to assist with the introduction of novel technologies in the diagnostic setting. Therefore, we have performed a thorough and high‐standard interlaboratory evaluation and validation of HRM, in collaboration with Idaho Technology, the manufacturer of the LightScannerTM (LS). Through this detailed study of 170 variants, we have generated guidelines for easy setup and implementation of HRM as a scanning technique for new genes, which are adaptable to the quality system of an individual diagnostic laboratory. This validation study includes the description of a BRCA1‐specific mutation screening test using the 96‐well LS. This assay comprises 40 amplicons and was evaluated using a statistically significant elaborate panel of variants and control DNA samples. All heterozygous variants were detected. Moreover, genotype analysis for nine common polymorphisms created a fast screening and detection method for these frequently occurring nonpathogenic variants. A blind study using a total of 28 patient‐derived DNA samples resulted also in 100% detection and showed an average specificity of 98%, indicating a low incidence of false positives (FPs). Hum Mutat 30:1–11, 2009. © 2009 Wiley‐Liss, Inc.
Heart rate response and fitness effects of various types of physical education for 8- to 9-year-old schoolchildren

Abstract The present study investigated the heart rate (HR) response to various types of physical education (PE) activities for 8- to 9-year-olds (five school classes, n = 93) and the fitness effects of a short-term PE training programme (three of the five classes, n = 59) with high compared to low-to-moderate aerobic intensity. HR was recorded during small-sided indoor soccer (SO), basketball (BB), unihockey (UH), circuit training (CT), walking (W) and Nintendo Wii Boxing (NWB) and Nintendo Wii Tennis (NWT). Maximal HR (HRmax) and physical fitness was determined by the Yo-Yo Intermittent Recovery Level 1 Children's test (YYIR1C) test. Following cluster randomisation, three classes were tested before and after 6 wks with 2 × 30 min/wk SO and UH lessons [high-intensity (HI), 2 classes, n = 39] or low-to-moderate intensity PE lessons (CON, 1 class, n = 20). Average HR in SO (76 ± 1% HRmax), BA (77 ± 1% HRmax) and UH (74 ± 1% HRmax) was higher (P < 0.05) than in CT (62 ± 1% HRmax), W (57 ± 1% HRmax), NWB (65 ± 2% HRmax) and NWT (57 ± 1% HRmax). Time with HR > 80% and 90% HRmax, respectively, was higher (P < 0.05) in SO (42 ± 4 and 12 ± 2%), BB (41 ± 5 and 13 ± 3%) and UH (34 ± 3 and 9 ± 2%) than in CT, W and NW (0–5%), with time >80% HRmax being higher (P < 0.05) in SO than UH. After 6 wk, YYIR1C performance was increased (P < 0.05) by 22% in HI (673 ± 57 to 821 ± 71 m), but unaltered in CON (674 ± 88 to 568 ± 81 m). HR 2 min into YYIR1C was lowered (P < 0.05) in HI after 6 wks (92.4 ± 0.8 to 89.1 ± 0.9% HRmax), but not in CON. In conclusion, ball games elicited high aerobic loading for young schoolchildren and a short-term, low-volume ball game PE-intervention improved physical fitness. Traditional PE sessions had no effects on intermittent exercise performance.
Human Mutation RAPID COMMUNICATION BAK1 Gene Variation and Abdominal Aortic Aneurysms

We sought to examine the role of genetics in the multifactorial disease, abdominal aortic aneurysm (AAA), by studying sequence variation in the BAK1 gene (BAK1) that codes for an apoptotic-promoting protein, as chronic apoptosis activation has been linked to AAA development and progression. BAK1 abdominal aorta cDNA from AAA patients and nondiseased individuals were compared with each other, as well as to the BAK1 genomic sequence obtained from matching blood samples. We found specific BAK1 single nucleotide polymorphism (SNP) containing alleles in both aneurysmic (31 cases) and healthy aortic tissue (5 cases) without seeing them in the matching blood samples. These same BAK1 SNPs have been reported, although rarely (average frequency o0.06%), in reference BAK1 DNA sequences. Based on this and other similar observations, we propose a novel hypothesis postulating that multiple variants of genes may preexist in ‘‘minority’’ forms within specific nondiseased tissues and be selected for, when intraand/or extracellular conditions change. Therefore, the fact that different BAK1 variants can exist in both diseased and nondiseased AA tissues compared to matching blood samples, together with the rare occurrence of these same SNPs in reference sequences, suggests that selection may be a significant factor in AAA ontogeny. Hum Mutat 30:1043–1047, 2009. & 2009 Wiley-Liss, Inc.
Coupling tendencies during exploratory behaviours of competing players in rugby union dyads

Abstract This study investigated interpersonal coordination tendencies in 1vs.1 dyads in rugby union, here expressed by participants' movement velocity towards or away from the sideline as they competed to score or prevent a try. We examined whether coupling tendencies of members of each dyad shaped key performance outcomes (try or successful tackle). Data on movement displacement trajectories of eight male rugby union players (aged 11–12 years) were analysed during performance in 47 trials. To assess coordination tendencies during exploratory behaviours in the dyads, analyses of performance time series data were undertaken using variable time graphs, running correlations and cross-correlations. Results revealed distinct coupling patterns characterised by shifts between synchronous coordination and asynchronous coordination tendencies and uncoordinated actions. Observed behaviours were interpreted as attempts of competing participants to create and perceive possibilities for action while seeking to achieve specific performance goals. Findings also revealed that a variety of patterned relations between participants resulted in different performance outcomes.
Considerations for protein intake in managing weight loss in athletes

Abstract A large body of evidence now shows that higher protein intakes (2–3 times the protein Recommended Dietary Allowance (RDA) of 0.8 g/kg/d) during periods of energy restriction can enhance fat-free mass (FFM) preservation, particularly when combined with exercise. The mechanisms underpinning the FFM-sparing effect of higher protein diets remain to be fully elucidated but may relate to the maintenance of the anabolic sensitivity of skeletal muscle to protein ingestion. From a practical point of view, athletes aiming to reduce fat mass and preserve FFM should be advised to consume protein intakes in the range of ∼1.8–2.7 g kg−1 d−1 (or ∼2.3–3.1 g kg−1 FFM) in combination with a moderate energy deficit (−500 kcal) and the performance of some form of resistance exercise. The target level of protein intake within this recommended range requires consideration of a number of case-specific factors including the athlete's body composition, habitual protein intake and broader nutrition goals. Athletes should focus on consuming high-quality protein sources, aiming to consume protein feedings evenly spaced throughout the day. Post-exercise consumption of 0.25–0.3 g protein meal−1 from protein sources with high leucine content and rapid digestion kinetics (i.e. whey protein) is recommended to optimise exercise-induced muscle protein synthesis. When protein is consumed as part of a mixed macronutrient meal and/or before bed slightly higher protein doses may be optimal.
Effects of increasing and decreasing physiological arousal on anticipation timing performance during competition and practice

Abstract The aim of this study was to investigate if the effects of changes in physiological arousal on timing performance can be accurately predicted by the catastrophe model. Eighteen young adults (8 males, 10 females) volunteered to participate in the study following ethical approval. After familiarisation, coincidence anticipation was measured using the Bassin Anticipation Timer under four incremental exercise conditions: Increasing exercise intensity and low cognitive anxiety, increasing exercise intensity and high cognitive anxiety, decreasing exercise intensity and low cognitive anxiety and decreasing exercise intensity and high cognitive anxiety. Incremental exercise was performed on a treadmill at intensities of 30%, 50%, 70% and 90% heart rate reserve (HRR) respectively. Ratings of cognitive anxiety were taken at each intensity using the Mental Readiness Form 3 (MRF3) followed by performance of coincidence anticipation trials at speeds of 3 and 8 mph. Results indicated significant condition × intensity interactions for absolute error (AE; p = .0001) and MRF cognitive anxiety intensity scores (p = .05). Post hoc analysis indicated that there were no statistically significant differences in AE across exercise intensities in low–cognitive anxiety conditions. In high–cognitive anxiety conditions, timing performance AE was significantly poorer and cognitive anxiety higher at 90% HRR, compared to the other exercise intensities. There was no difference in timing responses at 90% HRR during competitive trials, irrespective of whether exercise intensity was increasing or decreasing. This study suggests that anticipation timing performance is negatively affected when physiological arousal and cognitive anxiety are high.
BAK1 gene variation and abdominal aortic aneurysms—Variants are likely due to sequencing of a processed gene on chromosome 20

The recent report of sequence differences in the BAK1 gene (MIM# 600516) between tissues (affected and unaffected) and blood DNA in individuals with abdominal aortic aneurysm (AAA) [Gottlieb et al., 2009] has garnered much publicity in the scientific community [Anderson, 2009]. The results have led to much speculation regarding the suitability of using genomic DNA derived from blood for the analysis of genetic disorders that primarily affect other tissues. However, the results reported by Gottlieb et al. [2009] are likely to be artefactual. In their article, a sequence comparison was made between tissue cDNA (using cDNA-specific primers) and blood genomic DNA (using primers derived from intronic sequences) but there was no attempt to sequence tissue genomic DNA (using the intronic primers) or blood cDNA (using cDNA-specific primers). This asymmetry, however, while unsatisfactory, is not the main cause of the unexpected results. The authors describe the use of a primer pair for amplifying BAK1 cDNA from AAA or normal abdominal aorta vascular tissue (AA): Forward BAK1—CAGGCTGATCCCGTCCTCCACTGAG; Reverse BAK1—GGGCACCCTTGGGAGTCATGATTTG. Using in silico polymerase chain reaction (PCR), however, these primers are predicted to amplify two distinct loci in the human genome: (1) a 3,851-bp product located at chr6:33649543–33653393. This is the site of the BAK1 gene; (2) a 685-bp product located at chr20:30741628–30742312. According to the UCSC browser, there are no known genes in this region but there is a human mRNA described [BC004431.1]. Upon further inspection, it is apparent that BC004431.1 represents a transcript from a processed (i.e., intronless) gene. BLAT alignment of this processed gene reveals very strong homology to BAK1 exonic sequences on chromosome 6. Furthermore, the single nucleotide polymorphisms (SNPs) described by Gottlieb et al. [2009] as representing the variants between tissue and blood (rs1051911, rs1051912, and rs1051913) are exactly identical to the sequence differences between the processed gene on chromosome 20 and exon 3, four sequences of BAK1 on chromosome 6 (Fig. 1). The observation of three base variants in one tissue (abdominal aorta) but not another (blood) might have been expected to alert the authors to the frequent problem of processed genes. It is uncertain whether the ‘‘‘BAK1 cDNA’’ that was sequenced was derived from transcript BC004431.1 or from genomic DNA on chromosome 20, as it is unclear whether, in preparing mRNA from AA and AAA vascular tissue, the authors used DNAse to remove contaminating genomic DNA. Regardless, the coincidence of sequence variants between the chromosome 20 processed gene and the chromosome 6 BAK1 sequence suggests that the findings reported are artefactual and do not represent true sequence difference between AA/AAA tissue and blood. Finally, it is possible the SNPs described in the SNP database are also not real but the result of misalignment of sequences between the chromosome 6 and chromosome 20 loci.
Carbohydrate mouth rinse and caffeine improves high-intensity interval running capacity when carbohydrate restricted

Abstract We tested the hypothesis that carbohydrate mouth rinsing, alone or in combination with caffeine, augments high-intensity interval (HIT) running capacity undertaken in a carbohydrate-restricted state. Carbohydrate restriction was achieved by performing high-intensity running to volitional exhaustion in the evening prior to the main experimental trials and further refraining from carbohydrate intake in the post-exercise and overnight period. On the subsequent morning, eight males performed 45-min steady-state (SS) exercise (65% ) followed by HIT running to exhaustion (1-min at 80% interspersed with 1-min walking at 6 km/h). Subjects completed 3 trials consisting of placebo capsules (administered immediately prior to SS and immediately before HIT) and placebo mouth rinse at 4-min intervals during HIT (PLACEBO), placebo capsules but 10% carbohydrate mouth rinse (CMR) at corresponding time-points or finally, caffeine capsules (200 mg per dose) plus 10% carbohydrate mouth rinse (CAFF + CMR) at corresponding time-points. Heart rate, capillary glucose, lactate, glycerol and NEFA were not different at exhaustion during HIT (P > 0.05). However, HIT capacity was different (P < 0.05) between all pair-wise comparisons such that CAFF + CMR (65 ± 26 min) was superior to CMR (52 ± 23 min) and PLACEBO (36 ± 22 min). We conclude that carbohydrate mouth rinsing and caffeine ingestion improves exercise capacity undertaken in carbohydrate-restricted states. Such nutritional strategies may be advantageous for those athletes who deliberately incorporate elements of training in carbohydrate-restricted states (i.e. the train-low paradigm) into their overall training programme in an attempt to strategically enhance mitochondrial adaptations of skeletal muscle.
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases. The muscle tropomyosin 3 gene, TPM3, is mutated in rare cases of nemaline myopathy that typically exhibit type 1 fiber hypotrophy with nemaline rods, and recently mutations in the TPM3 gene were also found to cause CFTD. We screened the TPM3 gene in patients with a clinical diagnosis of CFTD, nemaline myopathy, and with undefined congenital myopathies. Mutations in TPM3 were identified in 6 out of 13 patients with CFTD, as well as in one case of nemaline myopathy. Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. Several mutation‐negative cases exhibited other abnormalities, such as central nuclei and central cores. These results support the utility of the CFTD diagnosis in directing the course of genetic testing. Hum Mutat 30:1–8, 2009. © 2009 Wiley‐Liss, Inc.
NKX2‐1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain‐Lung‐Thyroid Syndrome”

NKX2‐1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)‐B and ‐C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2‐1 mutations c.493C>T (p.R165W) and c. 786_787del2 (p.L263fs) in infants with closely similar severe interstitial lung disease (ILD), hypotonia, and congenital hypothyroidism. Functional analyses using A549 and HeLa cells revealed that NKX2‐1‐p.L263fs induced neither SFTPB nor SFTPC promoter activation and had a dominant negative effect on wild‐type (WT) NKX2‐1. In contrast,NKX2‐1‐p.R165W activated SFTPC, to a significantly greater extent than did WTNKX2‐1,whileSFTPB activation was only significantly reduced in HeLa cells. In accordance with our in vitro data, we found decreased amounts of SP‐B and SP‐C by western blot in bronchoalveolar lavage fluid (patient with p.L263fs) and features of altered surfactant protein metabolism on lung histology (patient with NKX2‐1‐p.R165W). In conclusion, ILD in patients with NKX2‐1 mutations was associated with altered surfactant protein metabolism, and both gain and loss of function of the mutated NKX2‐1 genes on surfactant protein promoters were associated with ILD in “Brain‐Lung‐Thyroid syndrome”. © 2009 Wiley‐Liss, Inc.
Monitoring of in-season neuromuscular and perceptual fatigue in youth rugby players

Abstract The purpose of this study was to examine both short- and long-term neuromuscular and perceptual fatigue in youth rugby players during a seven-week in-season mesocycle. Eleven male youth rugby players (age 16.9 ± 0.8 years) were assessed for countermovement jump (CMJ), reactive strength index (RSI) and leg stiffness to monitor neuromuscular performance, together with a well-being questionnaire to monitor perceptual fatigue. Players trained and competed throughout a seven-week block with test variables measured at baseline and 24 h pre- and post-matches played in weeks 1, 4 and 7. Players trained on average 9.7 ± 1.1 h per week and competed in 10.5 ± 1.9 games over the seven-week block. Pre- to post-match reductions were significant across all games for CMJ, RSI and well-being (all P < 0.05), ranging from likely to almost certain negative reductions. Well-being and RSI demonstrated non-significant (P < 0.05) unclear or inconsistent changes when comparing pre-match scores to baseline. Significant reductions to baseline were observed pre-match for CMJ (weeks 4 and 7) and stiffness (week 7), representing very likely to almost certain negative long-term decrements. CMJ, RSI and well-being were all sensitive to detecting post-match fatigue. Importantly, CMJ and stiffness were sensitive to detecting accumulated fatigue over a seven-week period, whereas RSI and well-being were not. Consequently, either a CMJ or leg stiffness should be monitored to detect long-term, accumulated fatigue in academy rugby players.
Talent identification and selection in elite youth football: An Australian context

Abstract We identified the perceptual–cognitive skills and player history variables that differentiate players selected or not selected into an elite youth football (i.e. soccer) programme in Australia. A sample of elite youth male football players (n = 127) completed an adapted participation history questionnaire and video-based assessments of perceptual–cognitive skills. Following data collection, 22 of these players were offered a full-time scholarship for enrolment at an elite player residential programme. Participants selected for the scholarship programme recorded superior performance on the combined perceptual–cognitive skills tests compared to the non-selected group. There were no significant between group differences on the player history variables. Stepwise discriminant function analysis identified four predictor variables that resulted in the best categorization of selected and non-selected players (i.e. recent match-play performance, region, number of other sports participated, combined perceptual–cognitive performance). The effectiveness of the discriminant function is reflected by 93.7% of players being correctly classified, with the four variables accounting for 57.6% of the variance. Our discriminating model for selection may provide a greater understanding of the factors that influence elite youth talent selection and identification.