Effect of a 22-Week Strength- and Endurance-Based Physical Education Programme on Students’ Development

The aim of this study was to examine the effect of a physical education(PE) programme targeting strength and endurance development, in which the main activities were rope climbing, pull-ups, an obstacle course, 3000-m running and kickboxing, implemented over a 22-week period and for 260 minutes per week, on the physical development of students. A total of 477 students aged 19-21 (M= 20.1 ± 0.8) took part in the study, during which an intensive strength- and endurance-based physical training programme was carried out with the students by experienced physical training instructors over a period of 22 weeks. In order to assess the students’ physical development, weight measurement, hand grip, bent arm hang, push-up, sit-up, agility and 20-m shuttle run tests were carried out respectively as pretest and posttest. The tests were completed in two days. The obtained data were examined with paired samples t-test. The varied strength- and endurance-based activities (kickboxing, crossing obstacles, etc.) carried out with a certain intensity and over a specific period by the students made a positive contribution to the development of their strength, endurance (Vo2 Max) and agility characteristics

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants

Whole-genome sequence-based analysis of thyroid function

Tiina Paunio on työryhmän UK10K Consortium jäsen.Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N = 2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF >= 1%) associated with TSH and FT4 (N = 16,335). For TSH, we identify a novel variant in SYN2 (MAF = 23.5%, P = 6.15 x 10(-9)) and a new independent variant in PDE8B (MAF = 10.4%, P = 5.94 x 10(-14)). For FT4, we report a low-frequency variant near B4GALT6/ SLC25A52 (MAF = 3.2%, P = 1.27 x 10(-9)) tagging a rare TTR variant (MAF = 0.4%, P = 2.14 x 10(-11)). All common variants explain >= 20% of the variance in TSH and FT4. Analysis of rare variants (MAFPeer reviewe

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Physical Therapy in the Intensive Care Unit in a Patient With Biventricular Assist Device

Purpose: To determine the safety and feasibility of early physical therapy in the intensive care unit in a patient with biventricular assist device. Methods: Physical therapy started on the first postoperative day and continued till discharge including airway clearance, lower/upper extremity exercises, and mobilization. Heart rate (HR), respiratory rate (RR), systolic/diastolic/mean arterial pressures, peripheral oxygen saturation, and double product were recorded before treatment, after treatment, and 5 minutes after treatment. Results: In total, 15 sessions of physical therapy were implemented for a 41-year-old male patient during 21 days following implantation of a biventricular assist device. Normal physiological responses were seen in response to treatment. Heart rate increased significantly after treatment in comparison to pretreatment values (p = 0.02) and decreased significantly after 5 minutes (p = 0.03) and approached pretreatment values. Respiratory rate increased nonsignificantly after treatment and decreased significantly after 5 minutes (p = 0.001) and approached pretreatment values. Conclusion: Physical therapy in the intensive care unit in a patient with biventricular assist device resulted in significant increases within HR and RR in physiological limits. Ongoing monitoring of vital signs is recommended in order to observe physiological responses to early physical therapeutic interventions in the intensive care unit

Haemodynamic effects of physiotherapy programme in intensive care unit after liver transplantation

Objective. To determine the haemodynamic effects of intensive care physiotherapy after liver transplantation

An Empirical Study of Agile Software Development Methodologies: A Sri Lankan Perspective

Abstract-The challenges with developing software systems led to a switch from traditional software methodologies like Waterfall towards the Agile software methodologies. Agile methodologies are an established process for developing software nowadays and are relatively considered to be quick. These Agile software methodologies have become more and more popular in recent times, and Scrum in particular has been adopted by many companies. The current literature suggests that these Agile methodologies are indeed more effective in project management, particularly in dealing with the complexity of modern software systems and the rapidly changing business environment. There is, however, less evidence on their usage among software practitioners in Sri Lanka. This paper empirically investigates the perceptions of Agile methodologies usage from software practitioners in Sri Lanka. We present the practices in Agile they perceived to deliver the most benefits. We aim to provide awareness and knowledge about Agile methodologies tithe practitioners in the country. This paper can serve as a reference to the early adopters who intend to use Agile methods in the future

Reference accuracy in four rehabilitation journals

Objective: To investigate the incidence of reference errors in major peer-reviewed general physical therapy and rehabilitation journals (American Journal of Physical Medicine and Rehabilitation (AJPMR), Archives of Physical Medicine and Rehabilitation (APMR), Clinical Rehabilitation (CR) and Physical Therapy (PT)). Design: Descriptive, comparative. Main outcome measures: All issues of the AJPMR, APMR, CR and PT between 2003 and 2007 were studied. For each journal, references from articles were consecutively numbered, and using a random number generator, 100 references were selected from each journal. For each reference, ease of retrieval on MEDLINE and the presence of citation errors were noted. If discrepancies were identified, the reference was compared with the original publication. Two observers independently evaluated each reference for citation errors. Results: The total number of citations with errors among all published journals was 123 (30.7%). The reference error rates by journal ranged from 23% to 44%. Most errors (48.0%) occurred in the author element, followed by the title (31.7%), journal (8.9%), page (5.7%), year (4.1%), and volume (1.6%). Only 8 (2%) were likely to make retrieval of the reference difficult. Conclusions: Errors in references still appear in current physical therapy and rehabilitation literature, but most are not severe. © Sage Publications 2009

PCB pollution and macromolecular damage in Cyprinus carpio in Buyuk Menderes River: From ecotoxicology to risk assessment

47th Congress of the European-Societies-of-Toxicology -- AUG 28-31, 2011 -- Paris, FRANCEWOS: 000293814500385European Soc Toxico