SODA: an OWL-DL based ontology matching system

International audienc

The etiology of neuromuscular fatigue induced by the 5-m shuttle run test in adult soccer players

This study investigated the etiology of neuromuscular fatigue induced by a 5-m shuttle run test (5MSRT) in soccer players. Nineteen adult male amateur soccer players (age: 20.0 ± 2.9 years) participated in the present study. Before and after the 5MSRT, they were instructed to complete a maximal voluntary isometric contraction (MVIC) of the knee extensors (KE) during and after which two electrical stimulations were applied at the femoral nerve. Voluntary activation level (VAL), surface electromyography recordings (sEMG), electrophysiological (Mmax) and potentiated resting twitch (Ptw) responses of the KE were compared between pre- and post-5MSRT. Rating of perception exertion (RPE) was also assessed before, during the test immediately following each sprint repetition and after the test. The distance covered during each sprint significantly decreased as the number of trials performed increased (p<.05). The RPE reported following each sprint significantly increased throughout the test. In addition, MVIC (-9%), sEMG (-23%), VAL (-15%), Ptw (-26%) and Mmax (~22%) of the KE were lowered from pre-to-post 5MSRT (.001 < p < .01). The 5MSRT induced a decrease of repeated-sprint running performance and MVIC of the KE. These decrements were accompanied by lowered VAL, sEMG, Ptw and Mmax values of the KE reflecting the involvement of both the central and peripheral origins in the 5MSRT-induced fatigue. Given the important muscle stress induced by 5MSRT, this strenuous test must be applied with caution, after an inevitable familiarization phase, and not during the competition period to avoid the risk of serious injury

The global distribution and diversity of protein vaccine candidate antigens in the highly virulent Streptococcus pnuemoniae serotype 1

Serotype 1 is one of the most common causes of pneumococcal disease worldwide. Pneumococcal protein vaccines are currently being developed as an alternate intervention strategy to pneumococcal conjugate vaccines. Pre-requisites for an efficacious pneumococcal protein vaccine are universal presence and minimal variation of the target antigen in the pneumococcal population, and the capability to induce a robust human immune response. We used in silico analysis to assess the prevalence of seven protein vaccine candidates (CbpA, PcpA, PhtD, PspA, SP0148, SP1912, SP2108) among 445 serotype 1 pneumococci from 26 different countries, across four continents. CbpA (76%), PspA (68%), PhtD (28%), PcpA (11%) were not universally encoded in the study population, and would not provide full coverage against serotype 1. PcpA was widely present in the European (82%), but not in the African (2%) population. A multi-valent vaccine incorporating CbpA, PcpA, PhtD and PspA was predicted to provide coverage against 86% of the global population. SP0148, SP1912 and SP2108 were universally encoded and we further assessed their predicted amino acid, antigenic and structural variation. Multiple allelic variants of these proteins were identified, different allelic variants dominated in different continents; the observed variation was predicted to impact the antigenicity and structure of two SP0148 variants, one SP1912 variant and four SP2108 variants, however these variants were each only present in a small fraction of the global population (<2%). The vast majority of the observed variation was predicted to have no impact on the efficaciousness of a protein vaccine incorporating a single variant of SP0148, SP1912 and/or SP2108 from S. pneumoniae TIGR4. Our findings emphasise the importance of taking geographic differences into account when designing global vaccine interventions and support the continued development of SP0148, SP1912 and SP2108 as protein vaccine candidates against this important pneumococcal serotype

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders

Oat–buckwheat breads – technological quality, staling and sensory properties

peer reviewedThe technological and sensory properties and the staling of breads made from oat flour (OF) and buckwheat flour (BF) were analysed. Significant differences in protein and ash content were found in the experimental breads due to significant differences in the composition of the BF and OF used. As the proportion of BF in the recipe increased, a deterioration in the technological properties of the dough and bread as well as an increase in the crumb hardness were observed. The presence of OF in the recipe increased the bread volume, significantly enhanced the lightness of the crust and crumb and improved the overall sensory quality. The OF used in the recipe decreased the starch retrogradation enthalpy value, which is strongly related to a delay in bread staling. The proposed bakery products can be attractive to consumers who are looking for new food products