I-21 Current therapeutic guidelines in Duchenne Muscular Dystrophy to prolong life

Duchenne's myopathy is an X-linked disease with well defined evolutionary phases, characterized by degradation of the walking function, development of evolutive scoliosis and progressive decline of the respiratory function leading patients to premature death. In 1985 Y. Rideau in France carried out a new global therapeutic strategy for treatment of lower limb deformities, scoliosis deformity and progressive restrictive syndrome. The indication for surgery at the lower limbs is made very early, at the onset of the first signs of disease. The procedures are carried out at the same time and always bilaterally; they include: (i) hip section of superficial flexors; (ii) iliotibial band resection; (iii) subcutaneous tenotomy of semitendineous and gracilis; (iv) subcutaneous lengthening of Achilles tendons. In the post-operative period, the patient begins exercises of active and passive mobility in few days and after three weeks recovers his performances; ambulation will remain almost normal for several years. A comparison of two groups of patients, the first precociously operated on the lower limbs, the other one not operated, shows better performances in the operated group. The indications for surgical treatment of Duchenne scoliosis must be made after the loss of ambulation and not too late, to avoid the concurrent respiratory restrictive syndrome makes the patient inoperable. Over ten years ago, in Poitiers, a specific instrumentation for Duchenne scoliosis was created, providing for cylindrical rods fixed by peduncular screws at the sacro-lumbar level. On the dorso-lumbar level, the rod becomes flat to allow more flexibility of the trunk. The complications observed in a group of 55 patients operated for scoliosis, consisted in 2 cases of breaking of rods and 1 superficial infection. The surgery approach in DMD has the double aim to prolong the time of the autonomous ambulation and to avoid the evolution of scoliosis, limiting the harmful effects of the scoliosis on the respiratory function. However, the surgery alone is unable to prolong the life expectancy in these patients, without treating the restrictive respiratory syndrome, first by nasal ventilation and then by elective tracheotomy, essential for the survival of the patient

European principles of care for physiotherapy provision for persons with inherited bleeding disorders: Perspectives of physiotherapists and patients

Introduction: In their Chronic Care Model, the World Health Organisation states that people with chronic disorders and their families should be informed about the expected course, potential complications, and effective strategies to prevent complications and manage symptoms. Physiotherapists are a key professional group involved in the triage, assessment and management of musculoskeletal conditions of persons with a bleeding disorder (PWBD). Nevertheless, recent reports describe access to physiotherapy for those with these conditions is only sometimes available. Aim: Access to high quality individualised physiotherapy should be ensured for all PWBD, including those with mild and moderate severities, male and female, people with von Willebrand Disease (vWD) and other rare bleeding disorders. Physiotherapy should be viewed as a basic requisite in their multidisciplinary care. Methods/ results: Following a series of meetings with physiotherapists representing the European Association for Haemophilia and Allied Disorders (EAHAD) and PWBD representing the European Haemophilia Consortium (EHC) and a review of publications in the field, eight core principles of physiotherapy care for persons with a bleeding disorder have been co-produced by EAHAD and EHC. Conclusion: These eight principles outline optimum standards of practice in order to advocate personalised patient-centred care for physical health in which both prevention and interventions include shared decision making, and supported self-management

Relaxation of Surface Profiles by Evaporation Dynamics

We present simulations of the relaxation towards equilibrium of one dimensional steps and sinusoidal grooves imprinted on a surface below its roughening transition. We use a generalization of the hypercube stacking model of Forrest and Tang, that allows for temperature dependent next-nearest-neighbor interactions. For the step geometry the results at T=0 agree well with the t^(1/4) prediction of continuum theory for the spreading of the step. In the case of periodic profiles we modify the mobility for the tips of the profile and find the approximate solution of the resulting free boundary problem to be in reasonable agreement with the T=0 simulations.Comment: 6 pages, Revtex, 5 Postscript figures, to appear in PRB 15, October 199

Decay of one dimensional surface modulations

The relaxation process of one dimensional surface modulations is re-examined. Surface evolution is described in terms of a standard step flow model. Numerical evidence that the surface slope, D(x,t), obeys the scaling ansatz D(x,t)=alpha(t)F(x) is provided. We use the scaling ansatz to transform the discrete step model into a continuum model for surface dynamics. The model consists of differential equations for the functions alpha(t) and F(x). The solutions of these equations agree with simulation results of the discrete step model. We identify two types of possible scaling solutions. Solutions of the first type have facets at the extremum points, while in solutions of the second type the facets are replaced by cusps. Interactions between steps of opposite signs determine whether a system is of the first or second type. Finally, we relate our model to an actual experiment and find good agreement between a measured AFM snapshot and a solution of our continuum model.Comment: 18 pages, 6 figures in 9 eps file

The profile of a decaying crystalline cone

The decay of a crystalline cone below the roughening transition is studied. We consider local mass transport through surface diffusion, focusing on the two cases of diffusion limited and attachment-detachment limited step kinetics. In both cases, we describe the decay kinetics in terms of step flow models. Numerical simulations of the models indicate that in the attachment-detachment limited case the system undergoes a step bunching instability if the repulsive interactions between steps are weak. Such an instability does not occur in the diffusion limited case. In stable cases the height profile, h(r,t), is flat at radii r<R(t)\sim t^{1/4}. Outside this flat region the height profile obeys the scaling scenario \partial h/\partial r = {\cal F}(r t^{-1/4}). A scaling ansatz for the time-dependent profile of the cone yields analytical values for the scaling exponents and a differential equation for the scaling function. In the long time limit this equation provides an exact description of the discrete step dynamics. It admits a family of solutions and the mechanism responsible for the selection of a unique scaling function is discussed in detail. Finally we generalize the model and consider permeable steps by allowing direct adatom hops between neighboring terraces. We argue that step permeability does not change the scaling behavior of the system, and its only effect is a renormalization of some of the parameters.Comment: 25 pages, 18 postscript figure

Constraining the preservation of organic compounds in Mars analog nontronites after exposure to acid and alkaline fluids

The presence of organic matter in lacustrine mudstone sediments at Gale crater was revealed by the Mars Science Laboratory Curiosity rover, which also identified smectite clay minerals. Analogue experiments on phyllosilicates formed under low temperature aqueous conditons have illustrated that these are excellent reservoirs to host organic compounds against the harsh surface conditions of Mars. Here, we evaluate whether the capacity of smectites to preserve organic compounds can be influenced by a short exposure to different diagenetic fluids. We analyzed the stability of glycine embedded within nontronite samples previously exposed to either acidic or alkaline fluids (hereafter referred to as “treated nontronites”) under Mars-like surface conditions. Analyses performed using multiple techniques showed higher photodegradation of glycine in the acid-treated nontronite, triggered by decarboxylation and deamination processes. In constrast, our experiments showed that glycine molecules were preferably incorporated by ion exchange in the interlayer region of the alkali-treated nontronite, conferring them a better protection against the external conditions. Our results demonstrate that smectite previously exposed to fluids with different pH values influences how glycine is adsorbed into their interlayer regions, affecting their potential for preservation of organic compounds under contemporary Mars surface conditionsEuropean Commission | Ref. FP7 n. 307496European Commission | Ref. H2020 n. 818602Ministerio de Economía | Ref. MDM-2017-0737Ministerio de Economía | Ref. ESP2017-89053-C2-1-

Mammography screening: views from women and primary care physicians in Crete

Background: Breast cancer is the most commonly diagnosed cancer among women and a leading cause of death from cancer in women in Europe. Although breast cancer incidence is on the rise worldwide, breast cancer mortality over the past 25 years has been stable or decreasing in some countries and a fall in breast cancer mortality rates in most European countries in the 1990s was reported by several studies, in contrast, in Greece have not reported these favourable trends. In Greece, the age-standardised incidence and mortality rate for breast cancer per 100.000 in 2006 was 81,8 and 21,7 and although it is lower than most other countries in Europe, the fall in breast cancer mortality that observed has not been as great as in other European countries. There is no national strategy for screening in this country. This study reports on the use of mammography among middleaged women in rural Crete and investigates barriers to mammography screening encountered by women and their primary care physicians. Methods: Design: Semi-structured individual interviews. Setting and participants: Thirty women between 45–65 years of age, with a mean age of 54,6 years, and standard deviation 6,8 from rural areas of Crete and 28 qualified primary care physicians, with a mean age of 44,7 years and standard deviation 7,0 serving this rural population. Main outcome measure: Qualitative thematic analysis. Results: Most women identified several reasons for not using mammography. These included poor knowledge of the benefits and indications for mammography screening, fear of pain during the procedure, fear of a serious diagnosis, embarrassment, stress while anticipating the results, cost and lack of physician recommendation. Physicians identified difficulties in scheduling an appointment as one reason women did not use mammography and both women and physicians identified distance from the screening site, transportation problems and the absence of symptoms as reasons for non-use. Conclusion: Women are inhibited from participating in mammography screening in rural Crete. The provision of more accessible screening services may improve this. However physician recommendation is important in overcoming women's inhibitions. Primary care physicians serving rural areas need to be aware of barriers preventing women from attending mammography screening and provide women with information and advice in a sensitive way so women can make informed decisions regarding breast caner screening

Characterizations of how species mediate ecosystem properties require more comprehensive functional effect descriptors

The importance of individual species in mediating ecosystem process and functioning is generally accepted, but categorical descriptors that summarize species-specific contributions to ecosystems tend to reference a limited number of biological traits and underestimate the importance of how organisms interact with their environment. Here, we show how three functionally contrasting sediment-dwelling marine invertebrates affect fluid and particle transport - important processes in mediating nutrient cycling - and use high-resolution reconstructions of burrow geometry to determine the extent and nature of biogenic modification. We find that individual functional effect descriptors fall short of being able to adequately characterize how species mediate the stocks and flows of important ecosystem properties and that, in contrary to common practice and understanding, they are not substitutable with one another because they emphasize different aspects of species activity and behavior. When information derived from these metrics is combined with knowledge of how species behave and modify their environment, however, detailed mechanistic information emerges that increases the likelihood that a species functional standing will be appropriately summarized. Our study provides evidence that more comprehensive functional effect descriptors are required if they are to be of value to those tasked with projecting how altered biodiversity will influence future ecosystems