A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. We show that a heterologous cell fusion assay in vitro and allelic complementation experiments in mymk knockdown and mymkinsT/insT zebrafish in vivocan differentiate between MYMK wild type, hypomorphic and null alleles. Collectively, these data establish that MYMK activity is necessary for normal muscle development and maintenance in humans, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits

Economic assessment of use of pond ash in pavements

The paper introduces a new type of industrial waste-based subbase material which can replace conventional subbase material (CSM) in pavement construction. Utilisation of this industrial waste, namely pond coal ash produced from a thermal power plant in road construction will help to reduce the disposal problem of this waste and also will help to reduce the problem of scarcity of CSM. Lime and fibre were also added to the pond ash at various percentages to improve the suitability of this type of mix as subbase material. The optimum service life of pavement is studied with the help of numerical modelling and the cost benefit is also presented in the current study. The study reveals that stabilisation of the coal ash with 2% lime may produce an optimal material and, even though a greater thickness may be required to deliver the same pavement performance, direct cost savings of around 10% may be achieved in addition to less easily quantifiable environmental benefits. Design charts are provided to exploit the findings

Minimally invasive and computer-navigated total hip arthroplasty: a qualitative and systematic review of the literature

ABSTRACT: BACKGROUND: Both minimally invasive surgery (MIS) and computer-assisted surgery (CAS) for total hip arthroplasty (THA) have gained popularity in recent years. We conducted a qualitative and systematic review to assess the effectiveness of MIS, CAS and computer-assisted MIS for THA. METHODS: An extensive computerised literature search of PubMed, Medline, Embase and OVIDSP was conducted. Both randomised clinical trials and controlled clinical trials on the effectiveness of MIS, CAS and computer-assisted MIS for THA were included. Methodological quality was independently assessed by two reviewers. Effect estimates were calculated and a best-evidence synthesis was performed. RESULTS: Four high-quality and 14 medium-quality studies with MIS THA as study contrast, and three high-quality and four medium-quality studies with CAS THA as study contrast were included. No studies with computer-assisted MIS for THA as study contrast were identified. Strong evidence was found for a decrease in operative time and intraoperative blood loss for MIS THA, with no difference in complication rates and risk for acetabular outliers. Strong evidence exists that there is no difference in physical functioning, measured either by questionnaires or by gait analysis. Moderate evidence was found for a shorter length of hospital stay after MIS THA. Conflicting evidence was found for a positive effect of MIS THA on pain in the early postoperative period, but that effect diminished after three months postoperatively. Strong evidence was found for an increase in operative time for CAS THA, and limited evidence was found for a decrease in intraoperative blood loss. Furthermore, strong evidence was found for no difference in complication rates, as well as for a significantly lower risk for acetabular outliers. CONCLUSIONS: The results indicate that MIS THA is a safe surgical procedure, without increases in operative time, blood loss, operative complication rates and component malposition rates. However, the beneficial effect of MIS THA on functional recovery has to be proven. The results also indicate that CAS THA, though resulting in an increase in operative time, may have a positive effect on operative blood loss and operative complication rates. More importantly, the use of CAS results in better positioning of acetabular component of the prosthesis

Effect of curing time on selected properties of soil stabilized with fly ash, marble dust and waste sand for road sub-base materials

The properties of sub-base filling materials in highway construction are essential, as they can determine the performance of the road in service. Normally, the existing materials are removed and replaced with new materials that have adequate load-bearing capacity. Rising environmental concern and new environmental legislations have made construction professionals consider other methods. These methods include stabilizing the existing materials with other additives to improve their performance. Additives can be waste materials generated by different industries. In this work, the existing excavated soil is stabilized with waste materials. The wastes consisted of fly ash, marble dust and waste sand. The percentage addition of waste materials was 5%, 10%, 15% and 20% (by mass) of the existing soil. The soil/waste specimens were cured for 1, 7, 28, 56, 90 and 112 days before testing. Testing included the dry unit weight and unconfined compressive strength ( qu) as well as X-ray diffraction analysis and scanning electron microscopy observation. Also, the California Bearing Ratio values were obtained and are reported in this investigation. The results showed that the qu values increased with the increase in waste materials content. Also, there is tendency for the dry unit weight to increase with the increase in waste materials

Aware online interdependency modelling via evidence theory

"Critical infrastructure interdependency models are typically used in a simulation-based perspective, in order to perform 'what if?' analyses and identify structural vulnerabilities in a dynamic perspective. While in the literature some attempts have been made to use interdependency models at real time, such approaches are flawed by the inability to properly determine the ongoing situation. Such models, typically, receive data from SCADA systems, which are mostly able to assess the effects of failures rather than the causes, while knowing the typology of failure would increase dramatically the predictive-ability of online interdependency models. In this paper, a situation awareness framework is provided with the aim to complement online interdependency models by providing more specific information on the causes of the outages highlighted by sensor data. In order to determine such causes, in this paper a transferable belief model representation is adopted to increase the awareness of interdependency models on fault causes. Moreover in this paper some of the limitations of evidence theory methods are highlighted and discussed, with particular reference to a real time context, providing some insights on how to overcome them, especially the closed-world assumption.