References An P, Rice T, Rankinen T, Leon AS, Skinner JS, Wilmore JH, Rao DC. Genome-wide scan to identify quantitative trait loci for baseline resting heart rate and its response to endurance exercise training: the heritage family study. Int J Sports Med, 2006; 27(01): 31-36 Bangsbo J, Iaia FM, Krustrup P. The yo-yo intermittent recovery test: a useful tool for evaluation of physical performance in intermittent sports. Sports Med, 2008; 38(1): 37-51 Bangsbo J, Mohr M, Krustrup P. Physical and metabolic demands
Michael R. Esco, Ronald L. Snarr, Andrew Flatt, Matthew Leatherwood and Adam Whittaker
Vаnja Dzambazovska-Trajkovska, Jordan Nojkov, Adrijan Kartalov, Biljana Kuzmanovska, Tatjana Spiroska, Gjorgji Trajkovski, Nadica Geshkovska-Matevska and Aleksandar Dimovski
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Paweł Cięszczyk, Aleksandra Zarębska, Zbigniew Jastrzębski, Michał Sawczyn, Izabela Kozakiewicz-Drobnik, Agata Leońska-Duniec, Mariusz Kaczmarczyk, Agnieszka Maciejewska-Skrendo, Piotr Żmijewski, Grzegorz Trybek, Wojciech Smółka, Jan Pilch, Katarzyna Leźnicka, Ewelina Lulińska-Kuklik, Marek Sawczuk and Myosotis Massidda
., 2003 ; Missitzi et al., 2004 ; Stanula et al., 2014 ; Stunkard et al., 1990 ). Rapid development of molecular methods enabling the research of the structure and sequence of the human genome, and the usage of the model based on association analysis of candidate genes in sports has become feasible. To date, nearly 80 molecular markers have been reported to be correlated with physical performance, exercise and fitness as well as trainability ( Ahmetov and Fedotovskaya, 2012 ; Ahemtov et al., 2015 ). One of the candidate genes that have been recently studied in
Matthias Wilhelm Hoppe, Christian Baumgart, Thomas Hilberg, Jürgen Freiwald and Udo Frank Wehmeier
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Mateusz Radojewski, Tomasz Podgórski, Barbara Pospieszna, Jakub Kryściak, Ewa Śliwicka and Joanna Karolkiewicz
periods on genome stability indicate that adaptations of endogenous protective antioxidant and/or repair mechanisms prevent severe and persistent DNA damage in well-trained athletes ( Miyata et al., 2008 ; Radák et al., 2000 ; Reichhold et al., 2008 ; Vezzoli et al., 2014 ). Wittwer et al. (2004) also confirmed that the activities of DNA damage-repairing enzymes were upregulated by training. There is a wide debate in literature concerning the reliability of the serum CK level as a marker of muscle damage. Myofibrillar CK (M-CK) is bound to the M-line of the
Lech Dudarewicz, Anna Krzymińska, Wanda Hawuła, Magdalena Kozłowska, Urszula Laskowska, Agnieszka Gach, Maciej Borowiec, Wojciech Młynarski, Wojciech Ałaszewski and Lucjusz Jakubowski
Objective of the study:
At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap.
Material & Method:
Amniotic fluid samples or chorionic villi from:
137 fetuses with abnormalities in two or more organ systems
96 fetuses with nuchal translucency above 3.5 mm (99th centile),
85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies.
In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found.
The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.
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Manuela Arbune, Silvia Fotea, Aurel Nechita and Victorita Stefanescu
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Luisa Maria Bellussi, Desiderio Passali, Emanuela Vesperini, Serena Cocca, Giulio Cesare Passali, Albera Roberto, Pasquale Cassano, Domenico Rosario Cuda, Michele De Benedetto, Gaetano Motta, Giuseppe Panetti, Marco Piemonte, Lorenzo Salerni, Felice Scasso and Giancarlo Vesperini
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