A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de novo heterozygous variant Phe240Leu SLICK was identified by exome sequencing and confirmed by Sanger sequencing. Phe240Leu rSlick and hSLICK channels were electrophysiologically, heterologously characterized to reveal three significant alterations to channel function. First, [Cl-]i sensitivity was reversed in Phe240Leu channels. Second, predominantly K+-selective WT channels were made to favor Na+ over K+ by Phe240Leu. Third, and consequent to altered ion selectivity, Phe240Leu channels had larger inward conductance. Further, rSlick channels induced membrane hyperexcitability when expressed in primary neurons, resembling the cellular seizure phenotype. Taken together, our results confirm that Phe240Leu is a "change-of-function" KCNT2 mutation, demonstrating unusual altered selectivity in KNa channels. These findings establish pathogenicity of the Phe240Leu KCNT2 mutation in the reported EOEE patient

Efficacy of a 3 month training program on the jump-landing technique in jump-landing sports. Design of a cluster randomized controlled trial

<p>Abstract</p> <p>Background</p> <p>With the relatively high rate of injuries to the lower extremity due to jump-landing movement patterns and the accompanied high costs, there is need for determining potential preventive programs. A program on the intervention of jump-landing technique is possibly an important preventative measure since it appeared to reduce the incidence of lower extremity injuries. In real life situations, amateur sports lack the infrastructure and funds to have a sports physician or therapist permanently supervising such a program. Therefore the current prevention program is designed so that it could be implemented by coaches alone.</p> <p>Objective</p> <p>The objective of this randomized controlled trial is to evaluate the effect of a coach supervised intervention program targeting jump-landing technique on the incidence of lower extremity injuries.</p> <p>Methods</p> <p>Of the 110 Flemish teams of the elite division, 24 teams are included and equally randomized to two study groups. An equal selection of female and male teams with allocation to intervention and control group is obtained. The program is a modification of other prevention programs previously proven to be effective. All exercises in the current program are adjusted so that a more progressive development in the exercise is presented. Both the control and intervention group continue with their normal training routine, while the intervention group carries out the program on jump-landing technique. The full intervention program has a duration of three months and is performed 2 times a week during warm-up (5-10 min). Injuries are registered during the entire season.</p> <p>Discussion</p> <p>The results of this study can give valuable information on the effect of a coach supervised intervention program on jump-landing technique and injury occurrence. Results will become available in 2011.</p> <p>Trial registration</p> <p>Trial registration number: NTR2560</p

Fertilization with beneficial microorganisms decreases tomato defenses against insect pests

International audienceThe adverse effects of chemical fertilizers on agricultural fields and the environment are compelling society to move toward more sustainable farming techniques. “Effective microorganisms” is a beneficial microbial mixture that has been developed to improve soil quality and crop yield while simultaneously dramatically reducing organic chemical application. Additional indirect benefits of beneficial microorganisms application may include increased plant resistance to herbivore attack, though this has never been tested till now. Tomato plants were grown in controlled greenhouse conditions in a full-factorial design with beneficial microorganisms inoculation and commercial chemical fertilizer application as main factors. We measured plant yield and growth parameters, as well as resistance against the generalist pest Spodoptera littoralis moth larval attack. Additionally, we measured plant defensive chemistry to underpin resistance mechanisms. Overall, we found that, comparable to chemical fertilizer, beneficial microorganisms increased plant growth fruit production by 35 and 61 %, respectively. Contrary to expectations, plants inoculated with beneficial microorganisms sustained 25 % higher insect survival and larvae were in average 41 % heavier than on unfertilized plants. We explain these results by showing that beneficial microorganism-inoculated plants were impaired in the induction of the toxic glycoalkaloid molecule tomatine and the defense-related phytohormone jasmonic acid after herbivore attack. For the first time, we therefore show that biofertilizer application might endure unintended, pest-mediated negative effects, and we thus suggest that biofertilizer companies should incorporate protection attributes in their studies prior to commercialization

Selected static foot assessments do not predict medial longitudinal arch motion during running

Background: Static assessments of the foot are commonly advocated within the running community to classify the foot with a view to recommending the appropriate type of running shoe. The aim of this work was to determine whether selected static foot assessment could predict medial longitudinal arch (MLA) motion during running. Methods: Fifteen physically active males (27 ± 5 years, 1.77 ± 0.04m, 80 ± 10kg) participated in the study. Foot Posture Index (FPI-6), MLA angle and rearfoot angle were measured in a relaxed standing position. MLA motion was calculated using the position of retro-reflective markers tracked by a VICON motion analysis system, while participants ran barefoot on a treadmill at a self-selected pace (2.8 ± 0.5m.s-1). Bivariate linear regression was used to determine whether the static measures predicted MLA deformation and MLA angles at initial contact, midsupport and toe off. Results: All three foot classification measures were significant predictors of MLA angle at initial contact, midsupport and toe off (p < .05) explaining 41-90% of the variance. None of the static foot classification measures were significant predictors of MLA deformation during the stance phase of running. Conclusion: Selected static foot measures did not predict dynamic MLA deformation during running. Given that MLA deformation has theoretically been linked to running injuries, the clinical relevance of predicting MLA angle at discrete time points during the stance phase of running is questioned. These findings also question the validity of the selected static foot classification measures when looking to characterise the foot during running. This indicates that alternative means of assessing the foot to inform footwear selection are required

Objective and Subjective Factors as Predictors of Post-Traumatic Stress Symptoms in Parents of Children with Cancer – A Longitudinal Study

BACKGROUND: Parents of children with cancer report post-traumatic stress symptoms (PTSS) years after the child's successful treatment is completed. The aim of the present study was to analyze a number of objective and subjective childhood cancer-related factors as predictors of parental PTSS. METHODS: Data were collected from 224 parents during and after their child's cancer treatment. Data sources include self-report questionnaires and medical records. RESULTS: In a multivariate hierarchical model death of the child, parent's perception of child psychological distress and total symptom burden predicted higher levels of PTSS. In addition, immigrants and unemployed parents reported higher levels of PTSS. The following factors did not predict PTSS: parent gender, family income, previous trauma, child's prognosis, treatment intensity, non-fatal relapse, and parent's satisfaction with the child's care. CONCLUSIONS: Although medical complications can be temporarily stressful, a parent's perception of the child's distress is a more powerful predictor of parental PTSS. The vulnerability of unemployed parents and immigrants should be acknowledged. In addition, findings highlight that the death of a child is as traumatic as could be expected

Patellofemoral pain syndrome (PFPS): a systematic review of anatomy and potential risk factors

Patellofemoral Pain Syndrome (PFPS), a common cause of anterior knee pain, is successfully treated in over 2/3 of patients through rehabilitation protocols designed to reduce pain and return function to the individual. Applying preventive medicine strategies, the majority of cases of PFPS may be avoided if a pre-diagnosis can be made by clinician or certified athletic trainer testing the current researched potential risk factors during a Preparticipation Screening Evaluation (PPSE). We provide a detailed and comprehensive review of the soft tissue, arterial system, and innervation to the patellofemoral joint in order to supply the clinician with the knowledge required to assess the anatomy and make recommendations to patients identified as potentially at risk. The purpose of this article is to review knee anatomy and the literature regarding potential risk factors associated with patellofemoral pain syndrome and prehabilitation strategies. A comprehensive review of knee anatomy will present the relationships of arterial collateralization, innervations, and soft tissue alignment to the possible multifactoral mechanism involved in PFPS, while attempting to advocate future use of different treatments aimed at non-soft tissue causes of PFPS

Defoliation and Soil Compaction Jointly Drive Large-Herbivore Grazing Effects on Plants and Soil Arthropods on Clay Soil

In addition to the well-studied impacts of defecation and defoliation, large herbivores also affect plant and arthropod communities through trampling, and the associated soil compaction. Soil compaction can be expected to be particularly important on wet, fine-textured soils. Therefore, we established a full factorial experiment of defoliation (monthly mowing) and soil compaction (using a rammer, annually) on a clay-rich salt marsh at the Dutch coast, aiming to disentangle the importance of these two factors. Additionally, we compared the effects on soil physical properties, plants, and arthropods to those at a nearby cattle-grazed marsh under dry and under waterlogged conditions. Soil physical conditions of the compacted plots were similar to the conditions at cattle-grazed plots, showing decreased soil aeration and increased waterlogging. Soil salinity was doubled by defoliation and quadrupled by combined defoliation and compaction. Cover of the dominant tall grass Elytrigia atherica was decreased by 80% in the defoliated plots, but cover of halophytes only increased under combined defoliation and compaction. Effects on soil micro-arthropods were most severe under waterlogging, showing a fourfold decrease in abundance and a smaller mean body size under compaction. Although the combined treatment of defoliation and trampling indeed proved most similar to the grazed marsh, large discrepancies remained for both plant and soil fauna communities, presumably because of colonization time lags. We conclude that soil compaction and defoliation differently affect plant and arthropod communities in grazed ecosystems, and that the magnitude of their effects depends on herbivore density, productivity, and soil physical properties