526 research outputs found

    The trainer profession in equestrian sports : needs of competence and training course.

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    TrĂ€nare Ă€r idag framför allt skickliga pĂ„ att rida och undervisa ryttare i ridning. I denna studie framkommer flera kompetensomrĂ„den som efterfrĂ„gas av ryttare hos trĂ€nare. För att ridsporten och tĂ€vlingsverksamheten i Sverige ska fortsĂ€tta utvecklas Ă€r det en fördel om de utbildningar som kan leda fram till en trĂ€narroll överensstĂ€mmer innehĂ„llsmĂ€ssigt med vad ryttare efterfrĂ„gar hos sin trĂ€nare. Syftet med studien var att kartlĂ€gga trĂ€nares yrkeskompetens frĂ„n utbildning, samt stĂ€lla det i relation till marknadens behov av kunskap frĂ„n trĂ€narkĂ„ren utifrĂ„n befintlig forskning. Vilket leder till frĂ„gestĂ€llningarna: Hur ser kompetensbehovet hos trĂ€nare ut, utifrĂ„n befintlig forskning inom omrĂ„det? Och vilket innehĂ„ll finns i de utbildningar som idag kan leda fram till en trĂ€narroll? Via befintlig forskning och litteratur samt personlig kommunikation via telefonsamtal har resultatet i denna litteraturstudie framstĂ€llts. Berörda omrĂ„den innefattar pedagogik, coaching och ridundervisning, hĂ€stutbildning och innehĂ„ll i utbildningarna som kan leda fram till en trĂ€narroll. I resultatet syns en koppling mellan flera av de tidigare studierna gĂ€llande efterfrĂ„gad kompetens hos trĂ€nare och nya metoder att undervisa ryttare, dĂ€r pedagogik och hĂ€stkunskap Ă€r eftertraktade Ă€mnen. EfterfrĂ„gan av coaching som metod i ridundervisningen Ă€r framtrĂ€dande genom flera studier. Ryttare önskar mer tid att diskutera ridning och hĂ€stvĂ€lfĂ€rd med sin trĂ€nare. Att ha en dialog mellan trĂ€nare, ryttare och hĂ€st anses viktigt. Vidare förvĂ€ntas trĂ€nare Ă€ven ha en rad andra kunskaper, bland annat om idrottspsykologi och mental trĂ€ning. Utbildningarna som kan leda fram till trĂ€narrollen Ă€r idag delvis lika varandra i avseende om vilka Ă€mnen de innehĂ„ller. TrĂ€narutbildningen och Hippologprogrammet innehĂ„ller bĂ„da kurser som omfattar pedagogik, hĂ€stkunskap och företagsekonomi samt andra Ă€mnen inriktade mot hĂ€stverksamhet vilka motsvarar kompetensomrĂ„den ryttare efterfrĂ„gar hos trĂ€nare. Slutsatsen Ă€r att utbildningarna till stor del möter ryttares efterfrĂ„gan av kompetens hos trĂ€nare. TrĂ€narutbildningen och Hippologprogrammet innehĂ„ller ett varierat utbud av kurser vilka innefattar bland annat pedagogik som Ă€r den mest efterfrĂ„gade kompetensen hos trĂ€nare av ryttare, följt av hĂ€stkunskap som Ă€ven det Ă€r en efterfrĂ„gad kompetens. I vilken omfattning hĂ€stkunskap Ă€r efterfrĂ„gat Ă€r inte lika tydligt som efterfrĂ„gan av pedagogisk kunskap, vilket kan vara ett omrĂ„de att forska vidare pĂ„. Det coachande förhĂ„llningssĂ€ttet börjar vĂ€xa fram i ridsporten och lika sĂ„ i utbildningarna som kan leda fram till trĂ€narrollen. Enstaka kurser och förelĂ€sningar i coachning ingĂ„r i utbildningarna men kan i framtiden eventuellt behöva ökas i omfattning i takt med att undervisningsmetoderna i ridsporten utvecklas. Vidare forskning om relationen mellan trĂ€nare, ryttare och hĂ€st behövs för att utveckla undervisningsmetoderna och utbildningarna vidare.Trainers today are especially skilled at riding and teaching riding. In this study, several competence areas emerge that are requested by riders from trainers. For equestrian sports and competitions in Sweden to continue to develop, it is an advantage if the education that can lead to a trainers’ role corresponds in terms of content with what riders’ request in terms of knowledge from their trainer. This study contains the trainer education that is available through the Swedish Equestrian Federation and the Equine Science - Bachelor's program that goes under the Swedish University of Agricultural Sciences as ways to become a trainer. The purpose of the study was to map trainers’ professional competence from their education and to place it in relation to the market's need for knowledge from the trainer staff, based on existing research. What does the need of competence in trainers look like, based on previous research? What content is there in the educations that can lead to a trainer’s role today? The results of this literature study have been produced via existing research and literature. The result shows a connection between several of the previous studies regarding requested competence in trainers and new methods of teaching riders, where pedagogy and knowledge about horse welfare are sought-after subjects. Coaching as a form of teaching in riding lessons is also prominent through several studies. Riders want more time to discuss riding and horse welfare with their trainer. Having a dialogue between trainer, rider and horse is considered important. Furthermore, trainers are also expected to have several other knowledges, including sports psychology and mental training. The educations that can lead to becoming a trainer are a lot like each other in forms of subjects. The trainer education as well as the Equine Science - Bachelor's program contains pedagogy, knowledge of horses and economy along other subjects that involves the horse industry. These subjects answer well to the requests riders have in form of knowledge from their trainer. The conclusion is that the educations largely meet riders' requests of skills from coaches. The trainer education and the Equine Science - Bachelor's program contain a varied range of courses including pedagogy, which is the most requested competence among trainers of riders, followed by horse knowledge, which is also a requested competence. To which extent knowledge of horses are requested is not as clear as the requested competence of pedagogy and could use further research. The coaching approach is beginning to emerge in equestrian sports and as well as in the educations that can lead to a trainer role. Individual courses and lectures in coaching are included in educations but may in the future possibly need to be increased as the teaching methods in equestrian sports develops. Further research on the relationship between trainer, rider and horse is necessary to further develop the teaching methods and the educations

    Early Growth and Development Impairments in Patients with Ganglioside GM3 Synthase Deficiency

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    Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GSD) causes a complete absence of GM3 and all downstream biosynthetic derivatives. The individuals affected by this disorder manifest severe irritability, intractable seizures and profound intellectual disability. However, we have found that most newborns seem symptom-free for a period of time after birth. In order to further understand the onset of the disease, we investigated the early growth and development of patients with this condition through this study. We compared 37 affected individuals with their normal siblings and revealed that all children with GSD had relatively normal intrauterine growth and development, as their weight, length and head circumference were similar to their normal siblings at birth. However, the disease progresses quickly after birth and causes significant constitutional impairments of growth and development by 6 months of age. Neither breastfeeding nor gastrostomy tube placement made significant difference on growth and development as all groups of patients showed the similar pattern. We conclude that GSD causes significant postnatal growth and developmental impairments and the amount of gangliosides in breast milk and general nutritional intervention do not seem to alter these outcomes

    Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

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    The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination. We present a patient with SMA-like phenotype carrying a homozygous mutation in RBM7-a subunit of the nuclear exosome targeting (NEXT) complex-which is known to bind and carry specific subtypes of coding and non-coding RNAs to the exosome. The NEXT complex with other protein complexes is responsible for the substrate specificity of the exosome. We performed RNA-sequencing (RNA-seq) analysis on primary fibroblasts of patients with mutations in EXOSC8 and RBM7 and gene knock-down experiments using zebrafish as a model system. RNA-seq analysis identified significantly altered expression of 62 transcripts shared by the two patient cell lines. Knock-down of rbm7, exosc8 and exosc3 in zebrafish showed a common pattern of defects in motor neurons and cerebellum. Our data indicate that impaired RNA metabolism may underlie the clinical phenotype by fine tuning gene expression which is essential for correct neuronal differentiation

    Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

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    Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. FA2H encodes the enzyme fatty acid 2-hydroxylase that catalyzes the 2-hydroxylation of myelin galactolipids, galactosylceramide, and its sulfated form, sulfatide. To our knowledge, this is the first identified deficiency of a lipid component of myelin and the clinical phenotype underscores the importance of the 2-hydroxylation of galactolipids for myelin maturation. In patients with autosomal-recessive unclassified leukodystrophy or complex spastic paraparesis, sequence analysis of the FA2H gene is warranted

    Chemical composition of the old globular clusters NGC 1786, NGC 2210 and NGC 2257 in the Large Magellanic Cloud

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    This paper presents the chemical abundance analysis of a sample of 18 giant stars in 3 old globular clusters in the Large Magellanic Cloud, namely NGC 1786, NGC 2210 and NGC 2257. The derived iron content is [Fe/H]= --1.75+-0.01 dex (sigma= 0.02 dex), --1.65+-0.02 dex (sigma= 0.04 dex) and --1.95+-0.02 dex (sigma= 0.04 dex) for NGC 1786, NGC 2210 and NGC 2257, respectively. All the clusters exhibit similar abundance ratios, with enhanced values (+0.30 dex) of [alpha/Fe], consistent with the Galactic Halo stars, thus indicating that these clusters have formed from a gas enriched by Type II SNe. We also found evidence that r-process are the main channel of production of the measured neutron capture elements (Y, Ba, La, Nd, Ce and Eu). In particular the quite large enhancement of [Eu/Fe] (+0.70 dex) found in these old clusters clearly indicates a relevant efficiency of the r-process mechanism in the LMC environment.Comment: Accepted for pbblication in Ap

    A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

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    Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∌70% of the patients. Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in DNAJC6 in two patients with juvenile Parkinsonism. The mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level. DNAJC6 encodes the HSP40 Auxilin, a protein which is selectively expressed in neurons and confers specificity to the ATPase activity of its partner Hcs70 in clathrin uncoating. In Auxilin null mice it was previously shown that the abnormally increased retention of assembled clathrin on vesicles and in empty cages leads to impaired synaptic vesicle recycling and perturbed clathrin mediated endocytosis. Endocytosis function, studied by transferring uptake, was normal in fibroblasts from our patients, likely because of the presence of another J-domain containing partner which co-chaperones Hsc70-mediated uncoating activity in non-neuronal cells. The present report underscores the importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of Parkinsonism

    High precision effective temperatures for 181 F--K dwarfs from line-depth ratios

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    Line depth ratios measured on high resolution (R=42000), high S/N echelle spectra are used for the determination of precise effective temperatures of 181 F,G,K Main Sequence stars with about solar metallicity (-0.5 < [Fe/H] < +0.5). A set of 105 relations is obtained which rely Teff on ratios of the strengths of lines with high and low excitation potentials, calibrated against previously published precise (1%) temperature estimates. The application range of the calibrations is 4000--6150 K (F8V--K7V). The internal error of a single calibration is less than 100 K, while the combination of all calibrations for a spectrum of S/N=100 reduces uncertainty to only 5-10 K, and for S/N=200 or higher, to better than 5 K. The zero point of the temperature scale is directly defined from reflection spectra of the Sun with an uncertainty about 1 K. The application of this method to investigation of the planet host stars properties is discussed.Comment: 9 pages, accepted for publication in A&

    A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

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    The circadian clock, which drives a wide range of bodily rhythms in synchrony with the day–night cycle, is based on a molecular oscillator that ticks with a period of approximately 24 h. Timed proteasomal degradation of clock components is central to the fine-tuning of the oscillator’s period. FBXL3 is a protein that functions as a substrate-recognition factor in the E3 ubiquitin ligase complex, and was originally shown in mice to mediate degradation of CRY proteins and thus contribute to the mammalian circadian clock mechanism. By exome sequencing, we have identified a FBXL3 mutation in patients with syndromic developmental delay accompanied by morphological abnormalities and intellectual disability, albeit with a normal sleep pattern. We have investigated the function of FBXL3 in the zebrafish, an excellent model to study both vertebrate development and circadian clock function and, like humans, a diurnal species. Loss of fbxl3a function in zebrafish led to disruption of circadian rhythms of promoter activity and mRNA expression as well as locomotor activity and sleep–wake cycles. However, unlike humans, no morphological effects were evident. These findings point to an evolutionary conserved role for FBXL3 in the circadian clock system across vertebrates and to the acquisition of developmental roles in humans

    Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

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    Abstract Background Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. Objective We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. Results 16 patients from 8 families of 8 different ethnic backgrounds were included. 1 patient was asymptomatic when diagnosed at age 3 weeks. 15 patients diagnosed between 16 months and 25 years of life had intellectual disability/developmental delay (IDD). 8 patients also had myopathy/proximal muscle weakness. Common biochemical denominators were low/undetectable guanidinoacetate (GAA) concentrations in urine and plasma, and low/undetectable cerebral creatine levels. 3 families had protein truncation/null mutations. The rest had missense and splice mutations. Treatment with creatine monohydrate (100–800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy. The 2 patients treated since age 4 and 16 months had normal cognitive and behavioral development at age 10 and 11 years. Late treated patients had limited improvement of cognitive functions. Conclusion AGAT deficiency is a treatable intellectual disability. Early diagnosis may prevent IDD and myopathy. Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing
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