Linkage to chromosome 11p12 in two Maltese families with a highly penetrant form of osteoporosis

Osteoporosis is a metabolic bone disease with a strong genetic component. Family-based linkage studies were performed by a number of investigators to try to identify loci that might contain genes responsible for an increased susceptibility to osteoporosis. A whole-genome linkage scan using 400 microsatellite markers was performed in 27 members from two Maltese families with a highly penetrant form of osteoporosis. The phenotype was defined by lumbar and femoral z-scores calculated after measurement of bone mineral density by DEXA. Both males and females were among the affected individuals. Multipoint parametric and non-parametric linkage analyses were performed by EasyLinkage v4.01 using GENEHUNTER v2.1, assuming dominant and recessive modes of inheritance with variable penetrance. Evidence of linkage was observed to a marker at 11p12 where a non-parametric LOD score of 5.77 (P¼0.0006) was obtained. A maximum heterogeneity LOD score of 2.55 for this region was obtained for the dominant mode of inheritance with 90% penetrance and a phenocopy rate of 1%. Following fine mapping, the critical interval was narrowed to a region that is 52.94cM from 11p-telomere. In this region, the gene for tumour necrosis factor receptor-associated factor 6 (TRAF6) is located approximately 1 cM away from the indicated marker. Sequencing of the promoter region and exons of the TRAF6 gene revealed three sequence variants, one of which was found in three affected members within one family.peer-reviewe

A single trapped atom in front of an oscillating mirror

We investigate the Wigner-Weisskopf decay of a two level atom in front of an oscillating mirror. This work builds on and extends previous theoretical and experimental studies of the effects of a static mirror on spontaneous decay and resonance fluorescence. The spontaneously emitted field is inherently non-stationary due to the time-dependent boundary conditions and in order to study its spectral distribution we employ the operational definition of the spectrum of non-stationary light due to the seminal work by Eberly and Wodkiewicz. We find a rich dependence of this spectrum as well as of the effective decay rates and level shifts on the mirror-atom distance and on the amplitude and frequency of oscillations of the mirror. The results presented here provide the basis for future studies of more complex setups, where the motion of the atom and/or the mirror are included as quantum degrees of freedom.Comment: 10 pages, 12 figures, contribution to the special issue in Optics Communications devoted to Krzysztof Wodkiewicz's memor

Dynamical symmetries and crossovers in a three-spin system with collective dissipation

We consider the non-equilibrium dynamics of a simple system consisting of interacting spin-$1/2$ particles subjected to a collective damping. The model is close to situations that can be engineered in hybrid electro/opto-mechanical settings. Making use of large-deviation theory, we find a Gallavotti-Cohen symmetry in the dynamics of the system as well as evidence for the coexistence of two dynamical phases with different activity levels. We show that additional damping processes smoothen out this behavior. Our analytical results are backed up by Monte Carlo simulations that reveal the nature of the trajectories contributing to the different dynamical phases.Comment: 6 pages, 5 figure

Cooling atoms particles and polarisable objects using dissipative dipole forces

Optical cooling methods are generally applicable to a very restricted range of species. As a means of overcoming this problem, we explore the effect of the retarded interaction of any polarisable particle (an atom, a molecule or even a micromirror) with itself, similarly to cavity-mediated cooling. We use the transfermatrix method, extended to allow us to handle moving scatterers, to explore the most general configuration of a mobile particle interacting with any 1D combination of fixed optical elements. Remarkably, this model allows a solution in closed form for the force acting on the particle, without any a priori restriction on the nature of the particle

Does the Ricardian Equivalence Theorem capture the consumption behavior of Maltese households?

This paper explores the relationship between government debt and private consumption for Malta. In particular, it attempts to find evidence in favor or against the proposition that the consumption behavior of Maltese households follows the Ricardian Equivalence Theorem. The empirical findings from this analysis suggest that household consumption behavior in Malta is not Ricardian. The resulting lack of evidence supporting the presence of a cointegrating relationship between private consumption and public debt indicates that there is no long run relationship amongst these two variables. However, the results obtained from a subsequent application of a vector auto regressive generalized impulse response function suggests that in the short-term a rise in public debt does positively influence private household consumption. This implies that Keynesian theory may be better suited at explaining the underlying behavior of Maltese households in response to changes in the level of public debt, supporting the view that Maltese households, on aggregate, exhibit a myopic behavior with regards to household consumption patterns. This suggests that to an extent, the Government may thus be able to take advantage of the implicit effectiveness of an expansionary fiscal stance to stimulate the economy through higher aggregate consumption, at least in the short run. However, it should be noted that in the case of Malta the non-presence of the Ricardian Equivalence Theorem may not necessarily imply a high level of effectiveness of Keynesian fiscal policy, given that Malta is a small and open economy characterized by a high level of import content in its aggregate demand components. The longer-term implications pertaining to the public debt burden on future generations should be taken into account by policy makers as higher levels of debt could result in an eventual contractionary fiscal stance, which would negatively impact the consumption pattern of future generations.peer-reviewe

Effect of Axial Agitator Configuration (Up-Pumping, Down-Pumping, Reverse Rotation) on Flow Patterns Generated in Stirred Vessels

Single phase turbulent flow in a tank stirred with two different axial impellers - a pitched blade turbine (PBT) and a Mixel TT (MTT)- has been studied using Laser Doppler Velocimetry. The effect of the agitator configuration, i.e. up-pumping, down-pumping and reverse rotation, on the turbulent flow field, as well as power, circulation and pumping numbers has been investigated. An agitation index for each configuration was also determined. In the down-pumping mode, the impellers induced one circulation loop and the upper part of the tank was poorly mixed. When up-pumping, two circulation loops are formed, the second in the upper vessel. The PBT pumping upwards was observed to have a lower flow number and to consume more power than when down-pumping, however the agitation index and circulation efficiencies were notably higher. The MTT has been shown to circulate liquid more efficiently in the up-pumping configuration than in the other two modes. Only small effects of the MTT configuration on the power number, flow number and pumping effectiveness have been observed

When birth is not as expected: a systematic review of the impact of a mismatch between expectations and experiences.

BACKGROUND: Pregnancy and childbirth are significant events in women's lives and most women have expectations or plans for how they hope their labour and birth will go. It is possible that strong expectations about labour and birth lead to dissatisfaction or other negative outcomes if these expectations are not met, but it is not clear if this is the case. The aim was therefore to synthesise prospective studies in order to understand whether unmet birth expectations are associated with adverse outcomes for women, their partners and their infants. METHOD: Searches were carried out in Academic Search Complete; CINAHL; Medline; PsycINFO, PsychArticles, PubMed, SCOPUS and Web of Science. Forward and backward searches were also completed. Studies were included if they reported prospective empirical research that examined the association between a mismatch in birth expectations/experience and postnatal outcomes in women, their children and/or their partners. Data were synthesised qualitatively using a narrative approach where study characteristics, context and methodological quality were extracted and summarised and then the differences and similarities among studies were used to draw conclusions. RESULTS: Eleven quantitative studies were identified for inclusion from nine countries. A mismatch between birth expectations and experiences was associated with reduced birth satisfaction. Three studies found a link between a mismatch and the development of postnatal post-traumatic stress disorder (PTSD). The evidence was inconsistent for postnatal depression, and fear of childbirth. Only one study looked at physical outcomes in the form of health-related quality of life. CONCLUSIONS: A mismatch between birth expectations and experiences is associated with birth satisfaction and it may increase the risk of developing postnatal PTSD. However, it is not clear whether a mismatch is associated with other postnatal mental health conditions. Further prospective research is needed to examine gaps in knowledge and provide standardised methods of measuring childbirth expectations-experiences mismatch. To ensure women's expectations are met, and therefore experience a satisfying birth experience, maternity providers should provide sensitive care, which acknowledges women's needs and preferences, is based on open and clear communication, is delivered as early in pregnancy as possible, and enables women to make their own decisions about care. TRIAL REGISTRATION: Protocol registration: PROSPERO CRD42020191081

Diet and Physical Activity for the Prevention of Noncommunicable Diseases in Low- and Middle-Income Countries: A Systematic Policy Review

Background: Diet-related noncommunicable diseases (NCDs) are increasing rapidly in low-and middle-income countries (LMICs) and constitute a leading cause of mortality. Although a call for global action has been resonating for years, the progress in national policy development in LMICs has not been assessed. This review of strategies to prevent NCDs in LMICs provides a benchmark against which policy response can be tracked over time. Methods and Findings: We reviewed how government policies in LMICs outline actions that address salt consumption, fat consumption, fruit and vegetable intake, or physical activity. A structured content analysis of national nutrition, NCDs, and health policies published between 1 January 2004 and 1 January 2013 by 140 LMIC members of the World Health Organization (WHO) was carried out. We assessed availability of policies in 83% (116/140) of the countries. NCD strategies were found in 47% (54/116) of LMICs reviewed, but only a minority proposed actions to promote healthier diets and physical activity. The coverage of policies that specifically targeted at least one of the risk factors reviewed was lower in Africa, Europe, the Americas, and the Eastern Mediterranean compared to the other two World Health Organization regions, South-East Asia and Western Pacific. Of the countries reviewed, only 12% (14/116) proposed a policy that addressed all four risk factors, and 25% (29/116) addressed only one of the risk factors reviewed. Strategies targeting the private sector were less frequently encountered than strategies targeting the general public or policy makers. Conclusions: This review indicates the disconnection between the burden of NCDs and national policy responses in LMICs. Policy makers urgently need to develop comprehensive and multi-stakeholder policies to improve dietary quality and physical activity

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy. Here we aimed to determine the functional specificity and redundancy of MTM1 and MTMR2, and to assess their abilities to compensate for a potential therapeutic strategy. Using molecular investigations and heterologous expression of human MTMs in yeast cells and in Mtm1 knockout mice, we characterized several naturally occurring MTMR2 isoforms with different activities. We identified the N-terminal domain as responsible for functional differences between MTM1 and MTMR2. An N-terminal extension observed in MTMR2 is absent in MTM1, and only the short MTMR2 isoform lacking this N-terminal extension behaved similarly to MTM1 in yeast and mice. Moreover, adeno-associated virus-mediated exogenous expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. Noteworthy, the short MTMR2 isoform provided a better rescue when compared with the long MTMR2 isoform. In conclusion, these results point to the molecular basis for MTMs functional specificity. They also provide the proof-of-concept that expression of the neuropathy-associated MTMR2 gene improves the MTM1-associated myopathy, thus identifying MTMR2 as a novel therapeutic target for myotubular myopathy