Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNA(Asn) Gene

Chronic progressive external ophthalmoplegia (CPEO) is caused by a decreased oxidative phosphorylation (OXPHOS) activity due to large-scale deletions of the mitochondrial genome in 50 % of the patients. The deletions encompass structural OXPHOS genes as well as tRNA genes, required for their expression so that the pathogenesis could be due to the deleted OXPHOS subunits or to an impaired mitochondrial translation. We have analyzed the mitochondrial genome of a patient presenting with CPEO for single base substitutions and discovered a novel heteroplasmic mutation in the tRNAAsn gene at position 5692 that converts a highly conserved adenine into a guanine. This mutation is unique because it is located at the transition of the anticodon loop to the anticodon stem and it leads to an additional base pair, thus reducing the number of loop-forming nucleotides from seven to five. Our findings suggest that CPEO can be caused by a single base substition in a mitochondrial tRNA gene so that the mitochondrial protein synthesis becomes the rate limiting step in OXPHOS fidelity

A dissipated energy comparison to evaluate fatigue resistance using 2PB

Flexural fatigue due to repeated traffic loading is a process of cumulative damage and one of the main failure modes of flexible pavement structures. Typically, micro-cracks originate at the bottom of an asphalt concrete layer due to horizontal tensile strains. Micro-cracking starts to propagate towards the upper layers under repeated loading which can lead to pavement failure. Different approaches are usually used to characterise fatigue resistance in asphalt mixtures including the phenomenological approach, the fracture mechanics approach and the dissipated energy approach. This paper presents a comparison of fatigue resistance calculated for different dissipated energy models using 2 Point Bending (2PB) at IFSTTAR in Nantes. 2PB tests have been undertaken under different loading and environmental conditions in order to evaluate the properties of the mixtures (stiffness, dissipated energy, fatigue life and healing effect)

Fatigue resistance: is it possible having a unique response?

The mechanical characterisation of the asphalt concrete in terms of both the fatigue resistance and the stiffness modulus is necessary to use any design method of the flexible road pavements. Different kinds of test are usually used in experimental work such as bending tests, uniaxial tests, etc., but sometimes they do not give the same answer. In this paper mechanical characterization was carried out by means of fatigue tests undertaken with two most used testing machines for asphalt material: two point bending (2PB) test at IFSTTAR in Nantes (France) and four point bending (4PB) test at University of Palermo, in Palermo (Italy). Different strain controlled tests were undertaken for the same material under the same loading conditions, frequency and temperature (15 Hz and 20˚C), according to the European standard 12697 part 24 and 26. The first results of this interlaboratory activity are showed in this paper

A Novel Adaptation of a Parent-Child Observational Assessment Tool for Appraisals and Coping in Children Exposed to Acute Trauma

Background: Millions of children worldwide are exposed to acute potentially traumatic events (PTEs) annually. Many children and their families experience significant emotional distress and/or functional impairment following PTEs. While current research has begun to highlight a role for early appraisals and coping in promoting or preventing full recovery from PTEs, the exact nature of the relationships among appraisals, coping, and traumatic stress reactions as well as how appraisals and coping behaviors are influenced by the child\u27s environment (e.g., parents) remains unclear; assessment tools that reach beyond self-report are needed to improve this understanding. Objective: The objective of the current study is to describe the newly created Trauma Ambiguous Situations Tool (TAST; i.e., an observational child–parent interview and discussion task that allows assessment of appraisals, coping, and parent–child processes) and to report on initial feasibility and validation of TAST implemented with child–parent dyads in which children were exposed to a PTE. Method: As part of a larger study on the role of biopsychosocial factors in posttraumatic stress reactions, children (aged 8–13) and parents (n=25 child–parent dyads) completed the TAST during the child\u27s hospitalization for injury. Results: Children and parents engaged well with the TAST. The time to administer the TAST was feasible, even in a peri-trauma context. The TAST solicited a wide array of appraisals (threat and neutral) and coping solutions (proactive and avoidant). Forced-choice and open-ended appraisal assessments provided unique information. The parent–child discussion portion of the TAST allowed for direct observation of parent–child processes and demonstrated parental influence on children\u27s appraisals and coping solutions. Conclusions: The TAST is a promising new research tool, which may help to explicate how parents influence their child\u27s developing appraisals and coping solutions following a PTE. More research should examine the relationships of appraisals, coping, and parent–child processes assessed by the TAST with traumatic stress outcomes