An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same :c.6872-1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation

Evaluating the success of architecture education in Iran in promoting creativity and creative imagination of students, Case Study: Malayer University

Background and Objective:In the process of design development, it is the duty of the architect to find appropriate answers to design issues based on his experience and knowledge to provide the design goals considering diverse criteria. Therefore, the ability to create new and unknown solutions to issues, commonly referred to as creativity, is one of the basic skills required from any architect. Responsiveness to the unique design issues requires a creative and flexible mindset. Accordingly, in teaching architecture, nurturing student creativity is critical to solving design issues. The present paper examines the extent of this goal realization in the undergraduate training course in architecture engineering in Iran. Methods: The present study is designed and implemented based on the exploratory mixing research method and the two paradigms of positivism and poststructuralism. In this regard, the research population was clustered based on MSRT’s qualitative classification, and one university was selected from the largest cluster (third grade universities). Considering the dual nature of creativity, using two standard tests of creativity (Torrance and Ned Herrmann), and the degree of creativity of students in the study process at the Malayer university was measured. In addition, the level of readiness of the educational environment for the development of creativity is also measured. In the next stage of the research, the appropriateness of the educational environment for improving creativity was examined based on five basic indicators.  Graduated students were asked to evaluate their educational environment during their study in a closed-ended questionnaire based on these five criteria. Findings: The results of the research indicated that students did not increase their general creativity and significantly reduced their use of imagination and creativity as a tool for problem solving during the training period. Based on the results of the research, the instability of goals and design values during the course of the curriculum resulting from the structure of the educational system is a major factor in the disability of the educational environment in the development of student creativity. Conclusion: According to the results of examining general creativity of students, it seems that architecture education environment is useful for people with low general creativity, but it does not embrace very high creative students and provides conditions for high creativity to be suppressed and become close to the average creativity of the society. In general, this environment does not have a significant effect on the general creativity of the student community. On the other hand, a sharp decrease in the use of imaginative and creative thinking during the training course shows that the architectural design environment does not support and respect creative thinking and does not even tolerate creativity beyond a certain extent.   ===================================================================================== COPYRIGHTS  ©2020 The author(s). This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, as long as the original authors and source are cited. No permission is required from the authors or the publishers.  ====================================================================================

Increasing mothers� confidence and ability by creating opportunities for parent empowerment (COPE): A randomized, controlled trial

Objectives Premature neonates are at great risk for cerebral palsy, developmental delays, hearing problems and visual impairments. Interventions to reduce the morbidities and adverse health outcomes in these neonates and improve parent-infant interaction are highly important. This study was conducted to determine the effect of the Creating Opportunities for Parent Empowerment (COPE) program on the perceived maternal parenting self-efficacy of premature parents. Materials & Methods This was a randomized controlled trial with equal randomization (1:1:1 for 3 groups) and parallel group design. Forty-five preterm neonates were randomly allocated to treatment (n=15), supervision (n=15) and control (n=15) groups. COPE program was provided in the form of a 4-phase educational-behavioral intervention to the treatment and supervision groups. The primary outcome was parental self-efficacy, which was assessed by the Perceived Maternal Parenting Self-Efficacy inventory. All the measurements were performed pre-and post-completion with the valid equipment and by blind assessors. Results COPE mothers reported significantly stronger beliefs regarding their parental role and have more confidence to their ability in caring of neonates compared with control mothers (P-value <0.001). Conclusion An educational-behavioral intervention would strengthen mothers� belief in themselves and knowledge about their neonates and would enhance premature mothers� ability to care for their neonates as well as parent-infant interaction. © 2020, Iranian Child Neurology Society. All rights reserved

Effects of 8 weeks of balance training, virtual reality training, and combined exercise on lower limb muscle strength, balance, and functional mobility among older men: a randomized controlled trial

Background: Poor muscle strength, balance, and functional mobility have predicted falls in older adults. Fall prevention guidelines recommend highly challenging balance training modes to decrease falls; however, it is unclear whether certain modes are more effective. The purpose of this study was to determine whether traditional balance training (BT), virtual reality balance training (VR), or combined exercise (MIX) relative to a waitlist control group (CON) would provoke greater improvements in strength, balance, and functional mobility as falls risk factor proxies for falls in older men. Hypothesis: We hypothesized that 8 weeks of MIX will provoke the greatest improvements in falls risk factors, followed by similar improvements after BT and VR, relative to the CON. Study design: Single-blinded randomized controlled trial NCT02778841 (ClinicalTrials.gov identifier). Level of evidence: Level 2. Methods: In total, 64 community-dwelling older men (age 71.8 ± 6.09 years) were randomly assigned into BT, VR, MIX, and CON groups and tested at baseline and at the 8-week follow-up. The training groups exercised for 40 minutes, 3 times per week, for 8 weeks. Isokinetic quadriceps and hamstrings strength on the dominant and nondominant legs were primary outcomes measured by the Biodex Isokinetic Dynamometer. Secondary outcomes included 1-legged stance on firm and foam surfaces, tandem stance, the timed-up-and-go, and gait speed. Separate one-way analyses of covariance between groups were conducted for each outcome using baseline scores as covariates. Results: (1) MIX elicited greater improvements in strength, balance, and functional mobility relative to BT, VR, and CON; (2) VR exhibited better balance and functional mobility relative to BT and CON; and (3) BT demonstrated better balance and functional mobility relative to CON. Conclusion: The moderate to large effect sizes in strength and large effect sizes for balance and functional mobility underline that MIX is an effective method to improve falls risk among older adults

The effectiveness of injury prevention programs to modify risk factors for non-contact anterior cruciate ligament and hamstring injuries in uninjured team sports athletes: A systematic review

Background Hamstring strain and anterior cruciate ligament injuries are, respectively, the most prevalent and serious non-contact occurring injuries in team sports. Specific biomechanical and neuromuscular variables have been used to estimate the risk of incurring a non-contact injury in athletes. Objective The aim of this study was to systematically review the evidences for the effectiveness of injury prevention protocols to modify biomechanical and neuromuscular anterior cruciate and/or hamstring injuries associated risk factors in uninjured team sport athletes. Data Sources PubMed, Science Direct, Web of Science, Cochrane Libraries, U.S. National Institutes of Health clinicaltrials.gov, Sport Discuss and Google Scholar databases were searched for relevant journal articles published until March 2015. A manual review of relevant articles, authors, and journals, including bibliographies was performed from identified articles. Main Results Nineteen studies were included in this review. Four assessment categories: i) landing, ii) side cutting, iii) stop-jump, and iv) muscle strength outcomes, were used to analyze the effectiveness of the preventive protocols. Eight studies using multifaceted interventions supported by video and/or technical feedback showed improvement in landing and/or stop-jump biomechanics, while no effects were observed on side-cutting maneuver. Additionally, multifaceted programs including hamstring eccentric exercises increased hamstring strength, hamstring to quadriceps functional ratio and/or promoted a shift of optimal knee flexion peak torque toward a more open angle position. Conclusions Multifaceted programs, supported by proper video and/or technical feedback, including eccentric hamstring exercises would positively modify the biomechanical and or neuromuscular anterior cruciate and/or hamstring injury risk factors

A New Direction to Athletic Performance: Understanding the Acute and Longitudinal Responses to Backward Running

Backward running (BR) is a form of locomotion that occurs in short bursts during many overground field and court sports. It has also traditionally been used in clinical settings as a method to rehabilitate lower body injuries. Comparisons between BR and forward running (FR) have led to the discovery that both may be generated by the same neural circuitry. Comparisons of the acute responses to FR reveal that BR is characterised by a smaller ratio of braking to propulsive forces, increased step frequency, decreased step length, increased muscle activity and reliance on isometric and concentric muscle actions. These biomechanical differences have been critical in informing recent scientific explorations which have discovered that BR can be used as a method for reducing injury and improving a variety of physical attributes deemed advantageous to sports performance. This includes improved lower body strength and power, decreased injury prevalence and improvements in change of direction performance following BR training. The current findings from research help improve our understanding of BR biomechanics and provide evidence which supports BR as a useful method to improve athlete performance. However, further acute and longitudinal research is needed to better understand the utility of BR in athletic performance programs