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1.
Hum Mol Genet ; 31(16): 2820-2830, 2022 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-35377455

RESUMO

Loss-of-function mutations in DDRGK1 have been shown to cause Shohat type spondyloepimetaphyseal dysplasia (SEMD). In zebrafish, loss of function of ddrgk1 leads to defects in early cartilage development. Ddrgk1-/- mice show delayed mesenchymal condensation in the limb buds and early embryonic lethality. Mechanistically, Ddrgk1 interacts with Sox9 and reduces ubiquitin-mediated proteasomal degradation of Sox9 protein. To investigate the cartilage-specific role of DDRGK1, conditional knockout mice were generated by intercrossing Prx1-Cre transgenic mice with Ddrgkfl/fl mice to delete its expression in limb mesenchymal cells. Mutant mice showed progressive severe shortening of the limbs and joint abnormalities. The growth plate showed disorganization with shortened proliferative zone and enlarged hypertrophic zone. In correlation with these findings, Sox9 and Col2a1 protein levels were decreased, while Col10a1 expression was expanded. These data demonstrate the importance of Ddrgk1 during growth plate development. In contrast, deletion of Ddrgk1 with the osteoblast-specific Osteocalcin-Cre and Leptin receptor-Cre lines did not show bone phenotypes, suggesting that the effect on limb development is cartilage-specific. To evaluate the role of DDRGK1 in cartilage postnatal homeostasis, inducible Agc1-CreERT2; Ddrgklfl/fl mice were generated. Mice in which Ddrgk1 was deleted at 3 months of age showed disorganized growth plate, with significant reduction in proteoglycan deposition. These data demonstrate a postnatal requirement for Ddrgk1 in maintaining normal growth plate morphology. Together, these findings highlight the physiological role of Ddrgk1 in the development and maintenance of the growth plate cartilage. Furthermore, these genetic mouse models recapitulate the clinical phenotype of short stature and joint abnormalities observed in patients with Shohat type SEMD.


Assuntos
Lâmina de Crescimento , Peixe-Zebra , Animais , Cartilagem , Diferenciação Celular , Condrócitos/metabolismo , Condrogênese , Lâmina de Crescimento/metabolismo , Camundongos , Camundongos Transgênicos , Osteocondrodisplasias
2.
Am J Hum Genet ; 108(9): 1710-1724, 2021 09 02.
Artigo em Inglês | MEDLINE | ID: mdl-34450031

RESUMO

Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that can affect the skeletal and central nervous systems. We have identified loss-of-function variants in COPB2, a component of the coatomer complex I (COPI), in individuals presenting with osteoporosis, fractures, and developmental delay of variable severity. Electron microscopy of COPB2-deficient subjects' fibroblasts showed dilated endoplasmic reticulum (ER) with granular material, prominent rough ER, and vacuoles, consistent with an intracellular trafficking defect. We studied the effect of COPB2 deficiency on collagen trafficking because of the critical role of collagen secretion in bone biology. COPB2 siRNA-treated fibroblasts showed delayed collagen secretion with retention of type I collagen in the ER and Golgi and altered distribution of Golgi markers. copb2-null zebrafish embryos showed retention of type II collagen, disorganization of the ER and Golgi, and early larval lethality. Copb2+/- mice exhibited low bone mass, and consistent with the findings in human cells and zebrafish, studies in Copb2+/- mouse fibroblasts suggest ER stress and a Golgi defect. Interestingly, ascorbic acid treatment partially rescued the zebrafish developmental phenotype and the cellular phenotype in Copb2+/- mouse fibroblasts. This work identifies a form of coatopathy due to COPB2 haploinsufficiency, explores a potential therapeutic approach for this disorder, and highlights the role of the COPI complex as a regulator of skeletal homeostasis.


Assuntos
Osso e Ossos/metabolismo , Complexo I de Proteína do Envoltório/genética , Proteína Coatomer/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Osteoporose/genética , Animais , Ácido Ascórbico/farmacologia , Osso e Ossos/efeitos dos fármacos , Osso e Ossos/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Encéfalo/patologia , Criança , Pré-Escolar , Complexo I de Proteína do Envoltório/deficiência , Proteína Coatomer/química , Proteína Coatomer/deficiência , Colágeno Tipo I/genética , Colágeno Tipo I/metabolismo , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/metabolismo , Deficiências do Desenvolvimento/patologia , Embrião não Mamífero , Retículo Endoplasmático/efeitos dos fármacos , Retículo Endoplasmático/metabolismo , Retículo Endoplasmático/patologia , Feminino , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Fibroblastos/patologia , Regulação da Expressão Gênica no Desenvolvimento , Complexo de Golgi , Haploinsuficiência , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/metabolismo , Deficiência Intelectual/patologia , Masculino , Camundongos , Osteoporose/tratamento farmacológico , Osteoporose/metabolismo , Osteoporose/patologia , RNA Interferente Pequeno/genética , RNA Interferente Pequeno/metabolismo , Índice de Gravidade de Doença , Peixe-Zebra
3.
Proc Natl Acad Sci U S A ; 118(25)2021 06 22.
Artigo em Inglês | MEDLINE | ID: mdl-34161280

RESUMO

Osteogenesis imperfecta (OI) is a genetic disorder that features wide-ranging defects in both skeletal and nonskeletal tissues. Previously, we and others reported that loss-of-function mutations in FK506 Binding Protein 10 (FKBP10) lead to skeletal deformities in conjunction with joint contractures. However, the pathogenic mechanisms underlying joint dysfunction in OI are poorly understood. In this study, we have generated a mouse model in which Fkbp10 is conditionally deleted in tendons and ligaments. Fkbp10 removal substantially reduced telopeptide lysyl hydroxylation of type I procollagen and collagen cross-linking in tendons. These biochemical alterations resulting from Fkbp10 ablation were associated with a site-specific induction of fibrosis, inflammation, and ectopic chondrogenesis followed by joint deformities in postnatal mice. We found that the ectopic chondrogenesis coincided with enhanced Gli1 expression, indicating dysregulated Hedgehog (Hh) signaling. Importantly, genetic inhibition of the Hh pathway attenuated ectopic chondrogenesis and joint deformities in Fkbp10 mutants. Furthermore, Hh inhibition restored alterations in gait parameters caused by Fkbp10 loss. Taken together, we identified a previously unappreciated role of Fkbp10 in tendons and ligaments and pathogenic mechanisms driving OI joint dysfunction.


Assuntos
Condrócitos/patologia , Articulações/fisiopatologia , Atividade Motora , Osteogênese Imperfeita/fisiopatologia , Osteogênese , Proteínas de Ligação a Tacrolimo/metabolismo , Animais , Animais Recém-Nascidos , Condrogênese/genética , Colágeno Tipo I/metabolismo , Modelos Animais de Doenças , Fibrose , Marcha , Deleção de Genes , Regulação da Expressão Gênica , Proteínas Hedgehog/metabolismo , Hidroxilação , Inflamação/genética , Inflamação/patologia , Articulações/patologia , Ligamentos/patologia , Lisina/metabolismo , Camundongos , Modelos Biológicos , Ossificação Heterotópica/complicações , Ossificação Heterotópica/genética , Ossificação Heterotópica/patologia , Ossificação Heterotópica/fisiopatologia , Osteogênese/genética , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/patologia , Peptídeos/metabolismo , Análise de Sequência de RNA , Transdução de Sinais , Proteínas de Ligação a Tacrolimo/genética , Tendões/patologia
4.
Hum Mol Genet ; 29(13): 2171-2184, 2020 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-32504080

RESUMO

Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes the light subunit of the y+LAT1 transporter. Treatments for the complications of LPI, including growth failure, renal disease, pulmonary alveolar proteinosis, autoimmune disorders and osteoporosis, are limited. Given the early lethality of the only published global Slc7a7 knockout mouse model, a viable animal model to investigate global SLC7A7 deficiency is needed. Hence, we generated two mouse models with global Slc7a7 deficiency (Slc7a7em1Lbu/em1Lbu; Slc7a7Lbu/Lbu and Slc7a7em1(IMPC)Bay/em1(IMPC)Bay; Slc7a7Bay/Bay) using CRISPR/Cas9 technology by introducing a deletion of exons 3 and 4. Perinatal lethality was observed in Slc7a7Lbu/Lbu and Slc7a7Bay/Bay mice on the C57BL/6 and C57BL/6NJ inbred genetic backgrounds, respectively. We noted improved survival of Slc7a7Lbu/Lbu mice on the 129 Sv/Ev × C57BL/6 F2 background, but postnatal growth failure occurred. Consistent with human LPI, these Slc7a7Lbu/Lbu mice exhibited reduced plasma and increased urinary concentrations of the cationic amino acids. Histopathological assessment revealed loss of brush border and lipid vacuolation in the renal cortex of Slc7a7Lbu/Lbu mice, which combined with aminoaciduria suggests proximal tubular dysfunction. Micro-computed tomography of L4 vertebrae and skeletal radiographs showed delayed skeletal development and suggested decreased mineralization in Slc7a7Lbu/Lbu mice, respectively. In addition to delayed skeletal development and delayed development in the kidneys, the lungs and liver were observed based on histopathological assessment. Overall, our Slc7a7Lbu/Lbu mouse model on the F2 mixed background recapitulates multiple human LPI phenotypes and may be useful for future studies of LPI pathology.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Sistema y+L de Transporte de Aminoácidos/genética , Rim/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico por imagem , Erros Inatos do Metabolismo dos Aminoácidos/patologia , Sistema y+L de Transporte de Aminoácidos/deficiência , Aminoácidos/genética , Animais , Modelos Animais de Doenças , Éxons/genética , Humanos , Rim/patologia , Camundongos , Camundongos Knockout , Fenótipo , Microtomografia por Raio-X
5.
J Sports Sci ; 40(18): 2055-2061, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36263975

RESUMO

This investigation assessed the psycho-physiological and performance effects of hot water immersion (HWI) implemented either before or after a repeated-sprint training in hypoxia (RSH) session conducted in the heat. Ten participants completed three RSH trials (3 × 10 × 5-s sprints), conducted at 40°C and simulated altitude of 3000 m. A 30-min monitoring period preceded and followed all exercise sessions. In PRE, the pre-exercise period was HWI, and the post-exercise period was seated rest in temperate conditions. This combination was reversed in POST. In CON, participants were seated in temperate conditions for both periods. Compared to CON, PRE elicited a reduction in power output during each repeated-sprint set (14.8-16.2%, all p < 0.001), and a significantly higher core temperature (Tc) during the pre-exercise period and throughout the exercise session (p < 0.001 and p = 0.025, respectively). In POST, power output and Tc until the end of exercise were similar to CON, with Tc higher at the conclusion of the post-exercise period (p < 0.001). Time across the entire protocol spent ≥38.5°C Tc was significantly longer in PRE (48.1 ± 22.5 min) than POST (31.0 ± 11.3 min, p = 0.05) and CON (15.8 ± 16.3 min, p < 0.001). Employing HWI following RSH conducted in the heat provides effective outcomes regarding physiological strain and cycling performance when compared to pre-exercise or no HWI.


Assuntos
Temperatura Alta , Imersão , Humanos , Exercício Físico/fisiologia , Água , Hipóxia
6.
J Strength Cond Res ; 36(6): 1720-1725, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-32773540

RESUMO

ABSTRACT: Tapsell, LC, Binnie, MJ, Lay, BS, Dawson, BT, and Goods, PSR. Validity and reliability of a field hockey-specific dribbling speed test. J Strength Cond Res 36(6): 1720-1725, 2022-The present study aimed to design a valid and reliable test for field hockey players that concurrently assesses the skill of dribbling and sport-specific agility. In total, 27 male and 32 female subjects were recruited from amateur (n = 20), state-level (n = 22), and national-level (n = 17) field hockey teams. The test course was developed in consultation with state- and national-level field hockey coaches, and using match analyses from existing literature. Subjects were familiarized before completing a testing session that consisted of 3 maximal-effort trials through a field hockey-specific course while dribbling a hockey ball, and another 3 trials of the same course without dribbling the ball. Amateur and state subjects completed an additional session for test-retest reliability analysis. Electronic timing gates recorded time to complete the course with the ball (DRIBBLE), without the ball (SPRINT), and the difference between DRIBBLE and SPRINT (DELTA). With significance set at p < 0.05, subjects of higher playing levels recorded significantly faster DRIBBLE (p < 0.001) and significantly lower DELTA (p < 0.001) times. No significant difference was found between player levels for SPRINT (p = 0.484) times. Intraclass correlations were 0.84 and 0.81 for DELTA and DRIBBLE, respectively. In conclusion, the dribbling test trialed here has sufficient validity and reliability for use in performance testing of field hockey athletes and can be implemented across playing levels to objectively track skill progression.


Assuntos
Desempenho Atlético , Hóquei , Atletas , Teste de Esforço , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes
7.
J Genet Couns ; 30(6): 1559-1569, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33969574

RESUMO

The advancement of genetic testing technologies has allowed for better diagnosis and management of patients, but also results in more variants of uncertain significance (VUSs) due to the increased number of genes being analyzed. There are more genetic tests available and more providers who do not specialize in genetics ordering genetic testing, but few studies examining how providers who do not specialize in genetics interpret VUSs. This study surveyed pediatric providers at a midwestern pediatric care center who do not specialize in genetics about their understanding of a mock genetic test report with a VUS result and whether their understanding of the result was associated with experience ordering genetic tests. Participants' preferences about content of the report and steps taken to understand the result were also examined. Of the 51 participants, 33% correctly answered both knowledge questions about the VUS result: one asking them to interpret the result and one asking them how they would explain the result to the patient. There was no association between answering both knowledge questions correctly and types of previous genetic tests ordered (p > .1 for 8 types of genetic tests), having received a genetic test report with a VUS result (p = .58), having referred patients to a genetics professional (p = .74), or feeling comfortable discussing a positive, negative, or VUS genetic test result (p > .4). This suggests that having previous experience ordering genetic tests does not contribute to the participants' knowledge about a variant of uncertain significance. Most participants reported that the amount of information in each section of the mock report was adequate. Participants were likely to reference multiple resources to better understand a VUS result, including published literature (82%), gene-specific databases (67%), and colleagues (63%). While these results cannot be generalized to all institutions, institutions can use the two knowledge questions to determine participants' understanding of genetic test results. This will help healthcare institutions determine methods that will best aide their providers who order genetic testing but do not specialize in genetics in learning more about the genetic testing process and better utilize results to improve patient care.


Assuntos
Testes Genéticos , Conhecimento , Criança , Predisposição Genética para Doença , Testes Genéticos/métodos , Humanos
8.
J Strength Cond Res ; 35(6): 1620-1627, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30741866

RESUMO

ABSTRACT: Jones, MJ, Dawson, B, Eastwood, PR, Halson, SL, Miller, J, Murray, K, Dunican, IC, Landers, GJ, and Peeling, P. Influence of electronic devices on sleep and cognitive performance during athlete training camps. J Strength Cond Res 35(6): 1620-1627, 2021-This study investigated the effects of removing athletes' electronic devices in the evening on sleep and performance during training camps. Water polo athletes (n = 26) attending a 7-night training camp (study 1) and triathletes (n = 23) attending a 4-night training camp (study 2) were randomly allocated to a no-device group (no electronic devices could be used after dinner or overnight; ND) or control group (unrestricted electronic device use; CON). Sleep was monitored through wrist actigraphy. The ND group completed a questionnaire measuring anxiety related to being unable to use electronic devices ("nomophobia"). Triathletes also completed a psychomotor vigilance test (PVT) at the start and end of camp. Water polo ND athletes went to bed earlier and spent longer time in bed than CON on the first night, but not on other nights. In triathletes, sleep quantity was not different between groups on any night. No statistically significant differences were observed for changes in nomophobia from the first to the last night of camp. No differences in PVT performance were observed between ND and CON triathletes. In conclusion, removal of evening electronic devices does not improve sleep quantity or cognitive performance in athletes during short-duration (4-7 nights) training camps.


Assuntos
Atletas , Cognição/fisiologia , Sono , Actigrafia , Eletrônica , Humanos , Sono/fisiologia
9.
J Sports Sci ; 38(19): 2186-2192, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32543342

RESUMO

PURPOSE: To compare the occurrence and characteristics of repeated-sprint (RS) activity in elite team sport competition when classified according to speed and/or acceleration, and their interaction via metabolic power (Pmet). Methods: Elite male hockey players (N = 16) wore player-tracking devices in six international matches. Sprint efforts were defined using four separate classifications: speed >5.5 m∙s-1, acceleration >1.5 m∙s-2, speed-or-acceleration, and Pmet >25.5 W∙kg-1. RS bouts were defined as ≥3 efforts with mean recovery ≤21 s. For Pmet, RS bouts were also classified using a maximal recovery period ≤21 s. The number of sprint efforts and RS bouts, and the number of efforts, effort durations and recovery periods within RS bouts, were compared across each classification method, and between mean and maximal recovery criteria. Results: More RS bouts were identified via Pmet (8.5 ± 2.8) than either speed and/or acceleration, and comprised more efforts (4.0 ± 0.4) with shorter recovery periods (11.5 ± 1.8 s). Fewer RS bouts (7.3 ± 2.8 vs. 8.5 ± 2.8) were identified with a maximum rather than mean recovery criterion. Conclusions: Definitions of sprint efforts and recovery periods which reflect ATP depletion and replenishment via Pmet suggest that RS activity occurs frequently in team sport competition, and is more demanding than when speed and/or acceleration are used to define RS activity in variable-speed locomotion.


Assuntos
Comportamento Competitivo/fisiologia , Hóquei/fisiologia , Corrida/fisiologia , Aceleração , Adulto , Metabolismo Energético , Sistemas de Informação Geográfica , Hóquei/classificação , Humanos , Masculino , Corrida/classificação , Estudos de Tempo e Movimento , Adulto Jovem
10.
Int J Sport Nutr Exerc Metab ; 30(3): 185­190, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32217791

RESUMO

The authors compared the effectiveness of two modes of daily iron supplementation in athletes with suboptimal iron stores: oral iron (PILL) versus transdermal iron (PATCH). Endurance-trained runners (nine males and 20 females), with serum ferritin concentrations <50 µg/L, supplemented with oral iron or iron patches for 8 weeks, in a parallel group study design. Serum ferritin was measured at baseline and fortnightly intervals. Hemoglobin mass and maximal oxygen consumption (V˙O2max) were measured preintervention and postintervention in PATCH. A linear mixed effects model was used to assess the effectiveness of each mode of supplementation on sFer. A repeated-measures analysis of variance was used to assess hemoglobin mass and V˙O2max outcomes in PATCH. There was a significant time effect (p < .001), sex effect (p = .013), and Time × Group interaction (p = .009) for sFer. At Week 6, PILL had significantly greater sFer compared with PATCH (15.27 µg/L greater in PILL; p = .019). Serum ferritin was 15.53 µg/L greater overall in males compared with females (p = .013). There were no significant differences in hemoglobin mass (p = .727) or V˙O2max (p = .929) preintervention to postintervention in PATCH. Finally, there were six complaints of severe gastrointestinal side effects in PILL and none in PATCH. Therefore, this study concluded that PILL effectively increased sFer in athletes with suboptimal iron stores, whereas PATCH showed no beneficial effects.

11.
Int J Sport Nutr Exerc Metab ; 30(3): 191­196, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32217790

RESUMO

The authors compared the effectiveness of daily (DAY) versus alternate day (ALT) oral iron supplementation in athletes with suboptimal iron. Endurance-trained runners (nine males and 22 females), with serum ferritin (sFer) concentrations <50 µg/L, supplemented with oral iron either DAY or ALT for 8 weeks. Serum ferritin was measured at baseline and at fortnightly intervals. Hemoglobin mass (Hbmass) was measured pre- and postintervention in a participant subset (n = 10). Linear mixed-effects models were used to assess the effectiveness of the two strategies on sFer and Hbmass. There were no sFer treatment (p = .928) or interaction (p = .877) effects; however, sFer did increase (19.7 µg/L; p < .001) over the 8-week intervention in both groups. In addition, sFer was 21.2 µg/L higher (p < .001) in males than females. No Hbmass treatment (p = .146) or interaction (p = .249) effects existed; however, a significant effect for sex indicated that Hbmass was 140.85 g higher (p = .004) in males compared with females. Training load (p = .001) and dietary iron intake (p = .015) also affected Hbmass. Finally, there were six complaints of severe gastrointestinal side effects in DAY, but only one in ALT. In summary, both supplement strategies increased sFer in athletes with suboptimal iron status; however, the ALT approach was associated with lower incidence of gastrointestinal upset.

12.
J Strength Cond Res ; 2020 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-33065705

RESUMO

Halley, SL, Peeling, P, Brown, H, Sim, M, Mallabone, J, Dawson, B, and Binnie, MJ. Repeat application of ischemic preconditioning improves maximal 1,000-m kayak ergometer performance in a simulated competition format. J Strength Cond Res XX(X): 000-000, 2020-This study examined the effects of ischemic preconditioning (IPC) on repeat 1,000-m kayak ergometer time-trial (TT) performance, completed in a simulated competition format. Eight well-trained male kayak athletes performed 3 experimental trials, each consisting of two 1,000-m TTs separated by 80 minutes (TT 1 and TT 2). Trials included; (a) IPC (4 × 5 minutes 220 mm Hg alternating bilateral leg occlusion) 40 minutes before TT 1 only (IPC1); (b) IPC 40 minutes before TT 1 and 20 minutes before TT 2 (IPC2); and (c) no IPC (CON). Time, power, stroke rate, and expired gas variables (V[Combining Dot Above]O2 and accumulated oxygen deficit) were measured throughout each TT; blood gas variables (blood lactate, partial pressure of oxygen and blood pH) and rating of perceived exertion were measured before and after each effort. Physiological, perceptual, and physical measures were analyzed via a repeated measures analysis of variance with the level of significance set at p ≤ 0.05. There were large improvements in completion time for TT 1 in IPC1 (d = 1.24 ± 0.68, p < 0.05) and IPC2 (d = 1.53 ± 0.99, p < 0.05) versus CON. There was also a large improvement in TT 2 completion time in IPC2 versus CON (d = 1.26 ± 1.13, p = 0.03) whereas, IPC1 and CON were indifferent (d = 0.3 ± 0.54, p = 0.23). This study showed that a repeat application of IPC in a simulated competition format may offer further benefit in comparison to a single pre-exercise application of IPC.

13.
Hum Mol Genet ; 26(16): 3046-3055, 2017 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-28486640

RESUMO

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. In this report, we provide a detailed evaluation of 29 individuals with RTS with respect to their metabolic bone status including bone mineral density, calcium kinetics studies, and markers of bone remodeling. We show that individuals with RTS have decreased areal bone mineral density. Additionally, we demonstrate that the presence of pathogenic variants in RECQL4 and low bone mineral density correlate with the history of increased risk of fractures. Using a RECQL4-deficient mouse model that recapitulates skeletal abnormalities seen in individuals with RTS, we demonstrate that generalized skeletal involvement is likely due to decreased osteogenesis. Our findings are clinically relevant as they may help in the risk stratification of patients with RTS and also in the identification of individuals who may benefit from additional surveillance and management of metabolic bone disease.


Assuntos
Fraturas Ósseas/metabolismo , Fraturas Ósseas/patologia , Síndrome de Rothmund-Thomson/metabolismo , Síndrome de Rothmund-Thomson/patologia , Adulto , Animais , Densidade Óssea/fisiologia , Remodelação Óssea/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Camundongos , Mutação , Osteogênese/fisiologia , RecQ Helicases/genética , RecQ Helicases/metabolismo , Fatores de Risco
14.
J Sports Sci ; 37(7): 726-734, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30319029

RESUMO

The purpose of this study was to explore the processes associated with successful on-court movement in professional tennis. To date, research has only provided generalised insight into the physical demands of tennis movement and the requisite physical skills. Data were collected through semi-structured interviews with 15 international tennis and/or strength and conditioning coaches involved in the development of tennis-specific movement in professional men's and women's tennis. A descriptive, qualitative approach was adopted, with interviews transcribed verbatim and analysed using an inductive to deductive thematic analysis. The highlighted ideas and concepts enabled the dynamic construction of higher-order themes representative of "good" tennis movers, alongside the conceptual development of a common movement "goal" or "outcome". The established higher-order themes portrayed three "styles" of "good" movers in modern professional tennis: those who were "fast" around the court, those who "read the play" well, and those who were "efficient" in their movement. The established themes provide a framework for interpreting and categorising the movement of professional tennis players as well as its underpinning skill.


Assuntos
Desempenho Atlético/fisiologia , Mentores/psicologia , Destreza Motora/fisiologia , Movimento , Percepção , Tênis/fisiologia , Comportamento Competitivo/fisiologia , Eficiência/fisiologia , Feminino , Pé/fisiologia , Humanos , Entrevistas como Assunto , Masculino
15.
J Sports Sci ; 37(24): 2768-2773, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30821604

RESUMO

The aim of this study was to prospectively analyse the relationship between workloads and injury in elite football academy players. Elite football academy players (n = 122) from under-19 (U19) and under-21 (U21) of a professional football team competing in UEFA European Cups were followed during 5 seasons. Injuries were collected and absolute workload and workload ratios (4-weeks, 3-weeks, 2-weeks and week-to-week) calculated using a rolling days method with the help of the session Rate of Perceived Exertion. There was no association between absolute workload or workload ratio with the injury incidence in the U19. In the U21, the level of cumulative absolute workloads during 3-weeks (RR = 1.39, p = 0.026) and during 4-weeks (RR = 1.40, p = 0.019) were associated with an increase in injury. There was no association between workload ratio and injury in U21. The significant link between high cumulated 3-weeks and 4 weeks workloads and injury in U21 confirmed the requirement to monitor the internal subjective workload in U21 in order to prevent injury. Further studies exploring the relationships between workload and injury are required in football academy.


Assuntos
Traumatismos em Atletas/epidemiologia , Futebol/lesões , Carga de Trabalho , Adolescente , Humanos , Incidência , Estudos Prospectivos , Adulto Jovem
16.
J Sports Sci ; 37(3): 339-346, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30058956

RESUMO

This investigation assessed the effect of dietary nitrate (NO3-) supplementation, in the form of beetroot juice (BR), on repeat-sprint performance in normoxia and normobaric hypoxia. 12 male team-sport athletes (age 22.3 ± 2.6 y, VO2peak 53.1 ± 8.7 mL.kg-1.min-1) completed three exercise trials involving a 10 min submaximal warm-up and 4 sets of cycling repeat-sprint efforts (RSE; 9 × 4 s) at sea level (CON), or at 3000 m simulated altitude following acute supplementation (140 mL) with BR (HYPBR; 13 mmol NO3-) or NO3-depleted BR placebo (HYPPLA). Peak (PPO) and mean (MPO) power output, plus work decrement were recorded during the RSE task, while oxygen consumption (VO2) was measured during the warm-up. There were no significant differences observed between HYPBR and HYPPLA for PPO or MPO; however, work decrement was reduced in the first RSE set in HYPBR compared with HYPPLA. There was a moderate effect for VO2 to be lower following BR at the end of the 10 min warm-up (ES = 0.50 ± 0.51). Dietary NO3- may not improve repeat-sprint performance in hypoxia but may reduce VO2 during submaximal exercise. Therefore, BR supplementation may be more effective for performance improvement during predominantly aerobic exercise.


Assuntos
Desempenho Atlético , Ciclismo/fisiologia , Suplementos Nutricionais , Sucos de Frutas e Vegetais , Nitratos/administração & dosagem , Adulto , Altitude , Atletas , Beta vulgaris , Teste de Esforço , Humanos , Hipóxia , Masculino , Consumo de Oxigênio , Fenômenos Fisiológicos da Nutrição Esportiva , Adulto Jovem
17.
J Sports Sci ; 37(8): 864-870, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30326782

RESUMO

The present study aimed to investigate pre-sleep behaviours (including evening electronic device use) and sleep quantity in well-trained athletes. Seventy well-trained athletes (44 females, 26 males) aged 21 ± 4 y from a range of team and individual sports were asked to complete an online sleep diary for 7 days. The sleep diary included questions about pre-sleep behaviours (e.g. napping, caffeine intake), electronic device use in the 2 h prior to bedtime (e.g. type of device and duration of use) and sleep (e.g. time in bed, sleep onset latency). On average, athletes spent 8:20 ± 1:21 h in bed each night. Associations between age, time in bed and sleepiness suggested that younger athletes spent more time in bed (B = -0.05, p = 0.001) but felt sleepier (r = -0.32, p < 0.01) than older athletes. On average, athletes mostly used electronic devices for 0-30 min prior to sleep. The use of multiple devices in the evening was associated with more perceived difficulty in falling asleep (B = 0.22, p = 0.03), but no associations existed with other sleep variables. In summary, younger athletes may require later start times or improved sleep quality to resolve excessive sleepiness.


Assuntos
Atletas/psicologia , Hábitos , Microcomputadores/estatística & dados numéricos , Sono , Adulto , Fatores Etários , Utilização de Equipamentos e Suprimentos , Feminino , Humanos , Masculino , Fatores de Tempo , Adulto Jovem
18.
J Strength Cond Res ; 33(1): 174-179, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30363039

RESUMO

Nédélec, M, Dawson, B, and Dupont, G. Influence of night soccer matches on sleep in elite players. J Strength Cond Res 33(1): 174-179, 2019-This study examined the impact of night matches on the sleep/wake behavior of elite soccer players participating in the UEFA Champions League and French Ligue 1. A mixed method approach was used, combining objective sleep assessment with wrist activity monitors, and a survey to ascertain the sleep complaints after night matches (kick off after 18:00 hours). Most players (90%) indicated worse sleep in the nights after evening matches than after training days. Objective time in bed (-01:39 hours; effect size [ES] = 1.7; p < 0.001) and total sleep time (-01:32 hours; ES = 1.4; p < 0.001) were both lower after night matches than after training days. Night matches had a marked influence on sleep quantity later that night, both objectively and subjectively. The survey revealed that players may not have appropriate methods for better managing their sleep after night matches. It is yet to be determined whether players may benefit from individualized sleep interventions in these circumstances.


Assuntos
Desempenho Atlético/fisiologia , Sono , Futebol/fisiologia , Adulto , Atletas , Escuridão , Humanos , Masculino , Adulto Jovem
19.
J Strength Cond Res ; 33(11): 3085-3091, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28930876

RESUMO

Nédélec, M, Leduc, C, Dawson, B, Guilhem, G, and Dupont, G. Case study: sleep and injury in elite soccer. A mixed method approach. J Strength Cond Res 33(11): 3085-3091, 2019-This case study allowed an examination of the link between sleep and injury occurrence in an elite male soccer player competing in French League 1 and Union of European Football Associations matches. During 4 months, a mixed method approach was used, combining actigraphic sleep assessment with qualitative interviews on a daily basis. Three injuries were reported over the study period. Sleep onset latency (SOL), both in the single night (117 ± 43 minutes) and in the week (78 ± 50 minutes) before injury occurrence, was longer than preseason baseline values (18 ± 13 minutes; effect size (ES): 3.1 and 1.6, respectively). Similarly, sleep efficiency in the single night (73 ± 7%) and the week (75 ± 7%) before injury occurrence was lower than baseline (90 ± 3%; ES: 3.2 and 2.8, respectively). In this case study, SOL and efficiency were altered on the night and in the week before injury occurrence. Individualized assessment of sleep during congested playing schedules may be useful to aid in preventing injury occurrence.


Assuntos
Latência do Sono/fisiologia , Futebol/lesões , Actigrafia , Adulto , Desempenho Atlético , Humanos , Entrevistas como Assunto , Masculino
20.
J Strength Cond Res ; 33(9): 2488-2495, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28704310

RESUMO

Black, GM, Gabbett, TJ, Naughton, G, Cole, MH, Johnston, RD, and Dawson, B. The influence of contextual factors on running performance in female Australian football match-play. J Strength Cond Res 33(9): 2488-2495, 2019-Given the recent growth of the professional status among multiple female football codes, the aim of this study is to investigate the effects of contextual factors on activity profiles and pacing strategies in female Australian football (AF) players. Thirty-five female AF players participated in this study. Global positioning system analysis was completed over 1 competitive season. Matches were separated into eight 10-minute periods. Greater distances were covered during the first half irrespective of playing position (effect size [ES] = 0.39-0.50, Likelihood ≥90%). Throughout a number of periods half-backs (defensive players) covered greater distances during losses (ES ≥ 0.74, Likelihood ≥92%) and against top 3 opponents (ES ≥ 1.0, Likelihood ≥97%). Midfielders and half-backs covered greater distances (ES ≥ 0.49, Likelihood ≥89%) in the final match period in winning compared with losing matches. A reduction in player work rate is evident during the second half of matches. The influence of contextual factors varied across positional groups. However, it is clear that coaches could use player rotation both early in the match in an attempt to delay the effect of fatigue and more frequently during the second half to increase running intensity.


Assuntos
Desempenho Atlético/fisiologia , Corrida/fisiologia , Futebol/fisiologia , Adulto , Austrália , Comportamento Competitivo/fisiologia , Fadiga/fisiopatologia , Feminino , Sistemas de Informação Geográfica , Humanos , Grupos Raciais , Corrida/estatística & dados numéricos , Futebol/estatística & dados numéricos , Adulto Jovem
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