Cílem kazuistické studie bylo analyzovat účinnost osmitýdenního kondičního tréninku mimo led u 21letého profesionálního hokejisty. Trénink byl přednostně zaměřen na explozivní sílu a silovou vytrvalost hlavních segmentů těla, s doplňujícími cvičeními pro stimulaci anaerobní a aerobní výkonnosti. Na počátku, po čtyřech týdnech a po skončení kondičního tréninku (1., 2., resp. 3. měření) bylo hodnoceno: a) složení těla (Bodystat); b) svalová síla – testy shyby podhmatem, kliky na bradlech, vertikální výskok (Kistler), izometrická dynamometrie zad (Takei) a izokinetická dynamometrie kolenní flexe a extenze (Isomed); c) anaerobní výkon a kapacita – test RAST; d) aerobní výkon – test běhu na 2 km. Významnost změn individuálních hodnot byla hodnocena podle 95% konfidenčního intervalu. Dynamická síla horních končetin (HK) se významně zvýšila již v 2. měření, zatímco izometrická síla zad až v 3. měření. Izokinetická dynamometrie ukázala větší silové přírůstky pro dominantní dolní končetinu (DK). Sprintová rychlost a běžecká anaerobní kapacita se významně zvýšily již po čtyřech týdnech tréninku. VO2max, odhadnutá z testu běhu na 2 km, se zvyšovala s dobou tréninku (48,8, 55,5 a 57,7 ml.min–1.kg–1). Studie naznačila, že a) Kombinace různých typů tréninku svalové síly s vyloučením cvičení s velmi těžkými odpory může vést u profesionálních hokejistů k významnému zvýšení svalové síly HK a DK již po čtyřech týdnech tréninku; b) Plyometrická cvičení a anaerobní běžecká cvičení mohou přispět ke zvýšení sprintové rychlosti, která je nejlepším prediktorem rychlosti bruslení; c) Funkční asymetrie dolních končetin hokejistů může být faktorem nervosvalových adaptací na tréninková cvičení.

The aim of the case study was to analyze the effects of the 8-week fitness off-ice training in the 21 year-old professional ice hockey player. The training was preferenti­ally focused on explosive strength and strength-endurance in major body segments, completed by the exercises for stimulation of the anaerobic and aerobic performance. Before, after 4 weeks and at the end of the training program (the 1st, 2nd and 3rd tests session, TS), the player was tested on: a) body composition (Bodystat); b) muscle strength – pull-up test, push-up test on a parallel bar, vertical squat jump (Kistler), back isometric dynamometry (Takei), knee isokinetic dynamometry (Isomed); c) anae­robic power and capacity – RAST test; d) maximal aerobic power – the 2 km running test. A significance of the changes in the performance variables during the training were tested according to the 95% confidence interval. Dynamic strength of the arms increased significantly in the 2nd TS while back iso­metric strength did until in the 3rd TS. The isokinetic dynamometry showed the larger gains in the dominant leg of the player. Sprint speed and running anaerobic capacity increased significantly as early as after 4 weeks of the training. VO2max estimated from the 2 km running time increased during all the training program (48,8, 55,5 a 57,7 ml.min–1.kg–1). The study suggested: a) The combination of different types of strength training without high resistance may result into the significant increase of strength of the arms and legs as early as after 4 weeks; b) Plyometric and anaerobic running exercises may contribute to the increase of sprint speed which is the best predictor of skating speed in the hockey players; c) The functional asymmetry of the legs in ice hockey players may be the factor of different neuromuscular adaptations to training exercises.

• Klíčová slova
• svalový výkon, anaerobní kapacita, maximální aerobní výkon, adaptace, testy,
• MeSH
• hokej * fyziologie   výchova   MeSH
• lidé MeSH
• mladý dospělý MeSH
• složení těla MeSH
• sportovní výkon * klasifikace   MeSH
• svalová síla * fyziologie   MeSH
• techniky cvičení a pohybu * metody   MeSH
• tělesná výkonnost * fyziologie   MeSH
• Check Tag
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

Stastny, P, Lehnert, M, De Ste Croix, M, Petr, M, Svoboda, Z, Maixnerova, E, Varekova, R, Botek, M, Petrek, M, Lenka, K, and Cięszczyk, P. Effect of COL5A1, GDF5, and PPARA genes on a movement screen and neuromuscular performance in adolescent team sport athletes. J Strength Cond Res 33(8): 2057-2065, 2019-The risk of injury increases with adolescents' chronological age and may be related to limited muscle function neuromuscular, genetic, and biomechanical factors. The purpose of this study was to determine whether COL5A1, PPARA, and GDF5 genes are associated with muscle functions and stretch-shortening cycle performance in adolescent athletes. One hundred forty-six youth players (14.4 ± 0.2 years) from various team sports (basketball n = 54, soccer n = 50, handball n = 32) underwent a manual test for muscle function, maturity estimation, functional bend test (FBT), passive straight leg raise (SLR) test, leg stiffness test, test of reactive strength index (RSI), and gene sampling for COL5A1, PPARA, and GDF5. The χ test did not show any differences in allele or genotype frequency between participants before and after peak height velocity. Multivariate analysis of variance showed that COL5A1 rs12722 CT heterozygotes had worse score in FBT (p < 0.001), worse score in SLR (p = 0.003), and lower maturity offset (p = 0.029, only in females) than TT homozygotes. Male GDF5 rs143383 GG homozygotes showed better score in SLR than AA and AG genotypes (p = 0.003), and AA and AG genotypes in both sex had greater RSI than GG homozygotes (p = 0.016). The PPARA rs4253778 CC homozygotes had greater RSI than GG and GC genotypes (p = 0.004). The CT genotype in COL5A1 rs12722 is possible predictor of functional movement disruption in the posterior hip muscle chain, causing shortening in FBT and SLR, which includes hamstrings function. CT genotype in COL5A1 rs12722 should be involved in programs targeting hamstring and posterior hip muscle chain.

• MeSH
• biomechanika MeSH
• genotyp MeSH
• kolagen typ V genetika   MeSH
• kosterní svaly metabolismus   MeSH
• lidé MeSH
• mladiství MeSH
• pohyb fyziologie   MeSH
• PPAR alfa genetika   MeSH
• průřezové studie MeSH
• puberta fyziologie   MeSH
• růstový diferenciační faktor 5 genetika   MeSH
• sexuální faktory MeSH
• sport pro děti a mládež fyziologie   MeSH
• sportovci * MeSH
• svalová síla MeSH
• tělesné váhy a míry MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Manganese (Mn) is an essential trace element with well characterized neurotoxic effects in high concentrations. Neurochemically, the initial neurotoxic effect of Mn is the perturbation of striatal γ-aminobutyric acid levels. Specific tasks for the assessment of cognitive functions subserved by fronto-striatal loops are available as the stop-change task (SCT) assessing control of multi-component behavior and action cascading. In a cross-sectional study, fifty male welders and 28 age-matched controls completed the SCT during a whole day examination. Reaction times, responses accuracy, and event-related potentials (ERPs) from electroencephalogram (EEG) recordings were analyzed. The shift exposure of the welders to respirable Mn was stratified by 20 µg/m3 in 23 low-exposed (median = 4.7 µg/m3) and 27 high-exposed welders (median = 86.0 µg/m3). Welders graduation was lower and was therefore included in the analyses. The task-related factor (stop-change delay, SCD) modified the responses as expected; however, the lack of an interaction "SCD × group" revealed no differences between welders and controls. EEG data showed that the "SCD" modulated the amplitude of the P3 ERP in controls stronger than in welders. There was no difference between the two groups of welders and no association between airborne or systemic Mn and the P3 ERP. Moreover, the P3 amplitude was smaller in subjects with lower education. These results showed that multitasking performance and cognitive flexibility are not impaired in welders. The electrophysiological results gave a weak hint that relevant neurobiological processes were different in welders as compared to controls but this may be related to lower education.

• MeSH
• elektroencefalografie MeSH
• kognice účinky léků   MeSH
• kognitivní neurověda metody   MeSH
• látky znečišťující vzduch v pracovním prostředí analýza   toxicita   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mangan analýza   toxicita   MeSH
• neuropsychologické testy MeSH
• pracovní expozice škodlivé účinky   analýza   MeSH
• průřezové studie MeSH
• reakční čas MeSH
• studie případů a kontrol MeSH
• svařování * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Ethylmalonic aciduria is a common biochemical finding in patients with inborn errors of short chain fatty acid beta-oxidation. The urinary excretion of ethylmalonic acid (EMA) may stem from decreased oxidation by short chain acyl-CoA dehydrogenase (SCAD) of butyryl-CoA, which is alternatively metabolized by propionyl-CoA carboxylase to EMA. We have recently detected a guanine to adenine polymorphism in the SCAD gene at position 625 in the SCAD cDNA, which changes glycine 209 to serine (G209S). The variant allele (A625) is present in homozygous and in heterozygous form in 7 and 34.8% of the general population, respectively. One hundred and thirty-five patients from Germany, Denmark, the Czech Republic, Spain, and the United States were selected for this study on the basis of abnormal EMA excretion ranging from 18 to 1185 mmol/mol of creatinine (controls < 18 mmol/mol of creatinine). Among them, we found a significant overrepresentation of the variant allele. Eighty-one patients (60%) were homozygous for the A625 allele, 40 (30%) were heterozygous, and only 14 (10%) harbored the wild-type allele (G625) in homozygous form. By overexpressing the wild-type and variant protein (G209S) in Escherichia coli and COS cells, we showed that the folding of the variant protein was slightly compromised in comparison to the wild-type and that the temperature stability of the tetrameric variant enzyme was lower than that of the wild type. Taken together, the over-representation and the biochemical studies indicate that the A625 allele confers susceptibility to the development of ethylmalonic aciduria.

• MeSH
• acyl-CoA-dehydrogenasa MeSH
• acyl-CoA-dehydrogenasy * genetika   MeSH
• bodová mutace MeSH
• Cercopithecus aethiops MeSH
• DNA analýza   MeSH
• exprese genu MeSH
• genetická variace MeSH
• malonáty * metabolismus   MeSH
• messenger RNA MeSH
• polymorfismus konformace jednovláknové DNA MeSH
• transformované buněčné linie MeSH
• vazebná místa MeSH
• vrozené poruchy metabolismu tuků * enzymologie   genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• práce podpořená grantem MeSH

We have shown previously that a variant allele of the short-chain acyl-CoA dehydrogenase ( SCAD ) gene, 625G-->A, is present in homozygous form in 7% of control individuals and in 60% of 135 patients with elevated urinary excretion of ethylmalonic acid (EMA). We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion. The first SCAD-deficient patient was a compound heterozygote for two mutations, 274G-->T and 529T-->C. These mutations were not present in 98 normal control alleles, but the 529T-->C mutation was found in one allele among 133 patients with elevated EMA excretion. The second patient carried a 1147C-->T mutation and the 625G-->A polymorphism in one allele, and a single point mutation, 511C-->T, in the other. The 1147C-->T mutation was not present in 98 normal alleles, but was detected in three alleles of 133 patients with elevated EMA excretion, consistently as a 625A-1147T allele. On the other hand, the 511C-->T mutation was present in 13 of 130 and 15 of 67 625G alleles, respectively, of normal controls and patients with elevated EMA excretion, and was never associated with the 625A variant allele. This over-representation of the haplotype 511T-625G among the common 625G alleles in patients compared with controls was significant ( P < 0.02), suggesting that the allele 511T-625G-like 511C-625A-confers susceptibility to ethylmalonic aciduria. Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild-type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C-->T mutation represents a second susceptibility variation in the SCAD gene. We conclude that ethylmalonic aciduria, a commonly detected biochemical phenotype, is a complex multifactorial/polygenic condition where, in addition to the emerging role of SCAD susceptibility alleles, other genetic and environmental factors are involved.

• MeSH
• acyl-CoA-dehydrogenasa MeSH
• acyl-CoA-dehydrogenasy genetika   nedostatek   MeSH
• alely MeSH
• COS buňky MeSH
• fibroblasty metabolismus   MeSH
• frekvence genu MeSH
• kojenec MeSH
• komplementární DNA analýza   MeSH
• kultivované buňky MeSH
• lidé MeSH
• malonáty * moč   MeSH
• mutace MeSH
• novorozenec MeSH
• teplota MeSH
• western blotting MeSH
• zvířata MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH

Paragangliomas and pheochromocytomas (PPGLs) are chromaffin tumors associated with severe catecholamine-induced morbidities. Surgical removal is often curative. However, complete resection may not be an option for patients with succinate dehydrogenase subunit A-D (SDHx) mutations. SDHx mutations are associated with a high risk for multiple recurrent, and metastatic PPGLs. Treatment options in these cases are limited and prognosis is dismal once metastases are present. Identification of new therapeutic targets and candidate drugs is thus urgently needed. Previously, we showed elevated expression of succinate receptor 1 (SUCNR1) in SDHB PPGLs and SDHD head and neck paragangliomas. Its ligand succinate has been reported to accumulate due to SDHx mutations. We thus hypothesize that autocrine stimulation of SUCNR1 plays a role in the pathogenesis of SDHx mutation-derived PPGLs. We confirmed elevated SUCNR1 expression in SDHx PPGLs and after SDHB knockout in progenitor cells derived from a human pheochromocytoma (hPheo1). Succinate significantly increased viability of SUCNR1-transfected PC12 and ERK pathway signaling compared to control cells. Candidate SUCNR1 inhibitors successfully reversed proliferative effects of succinate. Our data reveal an unrecognized oncometabolic function of succinate in SDHx PPGLs, providing a growth advantage via SUCNR1.

• MeSH
• feochromocytom farmakoterapie   enzymologie   genetika   metabolismus   MeSH
• krysa rodu rattus MeSH
• kyselina jantarová metabolismus   MeSH
• lidé MeSH
• mutace MeSH
• myši MeSH
• paragangliom farmakoterapie   enzymologie   genetika   metabolismus   MeSH
• podjednotky proteinů genetika   metabolismus   MeSH
• receptory spřažené s G-proteiny antagonisté a inhibitory   genetika   metabolismus   MeSH
• sukcinátdehydrogenasa nedostatek   genetika   MeSH
• zvířata MeSH
• Check Tag
• krysa rodu rattus MeSH
• lidé MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Intramural MeSH

Vertebral labelling and segmentation are two fundamental tasks in an automated spine processing pipeline. Reliable and accurate processing of spine images is expected to benefit clinical decision support systems for diagnosis, surgery planning, and population-based analysis of spine and bone health. However, designing automated algorithms for spine processing is challenging predominantly due to considerable variations in anatomy and acquisition protocols and due to a severe shortage of publicly available data. Addressing these limitations, the Large Scale Vertebrae Segmentation Challenge (VerSe) was organised in conjunction with the International Conference on Medical Image Computing and Computer Assisted Intervention (MICCAI) in 2019 and 2020, with a call for algorithms tackling the labelling and segmentation of vertebrae. Two datasets containing a total of 374 multi-detector CT scans from 355 patients were prepared and 4505 vertebrae have individually been annotated at voxel level by a human-machine hybrid algorithm (https://osf.io/nqjyw/, https://osf.io/t98fz/). A total of 25 algorithms were benchmarked on these datasets. In this work, we present the results of this evaluation and further investigate the performance variation at the vertebra level, scan level, and different fields of view. We also evaluate the generalisability of the approaches to an implicit domain shift in data by evaluating the top-performing algorithms of one challenge iteration on data from the other iteration. The principal takeaway from VerSe: the performance of an algorithm in labelling and segmenting a spine scan hinges on its ability to correctly identify vertebrae in cases of rare anatomical variations. The VerSe content and code can be accessed at: https://github.com/anjany/verse.

• MeSH
• algoritmy MeSH
• benchmarking * MeSH
• lidé MeSH
• páteř diagnostické zobrazování   MeSH
• počítačová rentgenová tomografie * MeSH
• počítačové zpracování obrazu MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH