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

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

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

Introduction of a new elliptical damper for seismic energy dissipation of civil structures

In this paper, a new energy dissipative device named elliptical damper was introduced for passive control of structures. In the proposed damper, the energy dissipation capacity is provided by the shear deformation of the elliptical ring. To investigate the behavior of the proposed damper, a sample of this damper was tested experimentally. The results showed that the proposed damper had stable hysteresis loops and good energy absorption. Also, the finite element model was developed by considering nonlinear behavior, large deformation, and material damage. The results of the numerical model were verified through experimental results. The results showed that the numerical analysis could predict the cyclic response and damage location of the experimental sample. A parametric study was performed to investigate the changes in the cyclic behavior of the elliptical damper with its dimensions. Four independent parameters considered for this study are the greater diameter of the elliptical ring, the ratio of its diameters, the ratio of the thickness of the elliptical ring to its greater diameter, and the ratio of the height of the connection area to the greater diameter of the elliptical ring. Among the studied parameters, the thickness of the elliptical ring had the greatest effects, and the height of the connection area had the smallest effects on the cyclic response of the proposed damper. By increasing the thickness of the damper, the maximum strength and energy dissipation capacity increase, but its ductility decreases. The proposed damper has stable hysteresis loops, excellent ductility, and high energy dissipation capacity. The elliptical damper is simple in terms of construction technology and provides excellent energy dissipation capacity for the structure compared to the cost spent for its construction. According to the results, the proposed damper can be used as an appropriate energy dissipation device for passive control of structures

A novel proficient and sufficient intensity measure for probabilistic analysis of skewed highway bridges

In this paper, a new intensity measure of earthquakes for probabilistic seismic analysis is presented for skewed highway bridges. Three different cases of skewed bridges with different skew angles (0°, 30° and 45°) are considered. Well-known intensity measures (e.g., PGA, Sa) are evaluated and critically discussed based on sensitivity analysis: efficiency, practically, proficiency and sufficiency of intensity measures are considered in detail. The analyses demonstrated that the intensity measures have to take into account structural acceleration on a wide range of periods so that a new seismic intensity measure is proposed showing that it has less dispersion compared to others. Since the proposed intensity represents the average value of the Sa (between a lower and upper structural period) it has been called Averaged Spectral Acceleration (ASA). Based on performed incremental dynamic analysis (IDA), the seismic analytical fragility curves of typical skewed highway bridges have been evaluated for different states of damage controlling the low dispersion of the ASA index as well as its proficiency and sufficiency

Probabilistic sensitivity analysis of multi-span highway bridges

In this study, we try to compare different intensity measures for evaluating nonlinear response of bridge structure. This paper presents seismic analytic fragility of a three-span concrete girder highway bridge. A complete detail of bridge modeling parameters and also its verification has been presented. Fragility function considers the relationship of intensities of the ground motion and probability of exceeding certain state of damage. Incremental dynamic analysis (IDA) has been subjected to the bridge from medium to strong ground motions. A suite of 20 earthquake ground motions with different range of PGAs are used in nonlinear dynamic analysis of the bridge. Complete sensitive analyses have been done on the response of bridge and also efficiency and practically of them are studied to obtain a proficient intensity measure for these types of structure by considering its sensitivity to the period of the bridge. Three dimensional finite element (FE) model of the bridge is developed and analyzed. The numerical results show that the bridge response is very sensitive to the earthquake ground motions when PGA and Sa (Ti, 5%) are used as intensity measure (IM) and also indicated that the failure probability of the bridge system is dominated by the bridge piers