Autistic traits and mental health in women with the fragile-X premutation: maternal status versus genetic risk

BACKGROUND: Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. AIMS: To understand whether the FX-p confers risk for autistic traits, depression and anxiety, independent of maternal status. METHOD: In study 1, mothers of children with fragile-X syndrome (M-FXp; n = 51, mean age 43 years (s.d. = 5.80)) were compared with mothers of autistic children (M-ASD; n = 59, mean age 42 (s.d. = 5.80)), mothers of children with Smith-Magenis syndrome (M-SMS; n = 27, mean age 39 (s.d. = 7.20)) and mothers of typically developing children (M-TD; n = 44, mean age 40 (s.d. = 4.90)). In study 2, the M-FXp group were compared with non-mothers with the FX-p (NM-FXp; n = 17, mean age 32 (s.d. = 9.20)), typically developed non-mothers (NM-TD; n = 28, mean age 31 (s.d. = 6.80)) and the M-TD group. All participants completed an online survey, including measures of IQ, autistic traits, anxiety, depression and positive affect. RESULTS: In study 1: the M-FXp group reported more autistic traits than the M-TD group (P < 0.05, η2 = 0.046). Anxiety and parental stress were elevated in the M-FXp, M-SMS and M-ASD groups relative to the M-TD group (all P ≤ 0.003, η2 = 0.079-0.322). In study 2: a main effect of premutation status indicated that women with the FX-p report elevated autistic traits and anxiety (P ≤ 0.007, η2 = 0.055-0.060); this did not interact with maternal status. CONCLUSIONS: The findings indicate that women with the FX-p show an increased risk for autistic traits and anxiety. This risk is specific to the presence of the FX-p and is not fully accounted for by maternal status or the stress of caring for children with neurodevelopmental disorders

Rural-to-urban migration and risk of hypertension: longitudinal results of the PERU MIGRANT study.

Urbanization can be detrimental to health in populations due to changes in dietary and physical activity patterns. The aim of this study was to determine the effect of migration on the incidence of hypertension. Participants of the PERU MIGRANT study, that is, rural, urban and rural-to-urban migrants, were re-evaluated after 5 years after baseline assessment. The outcome was incidence of hypertension; and the exposures were study group and other well-known risk factors. Incidence rates, relative risks (RRs) and population attributable fractions (PAFs) were calculated. At baseline, 201 (20.4%), 589 (59.5%) and 199 (20.1%) participants were rural, rural-to-urban migrant and urban subjects, respectively. Overall mean age was 47.9 (s.d.±12.0) years, and 522 (52.9%) were female. Hypertension prevalence at baseline was 16.0% (95% confidence interval (CI) 13.7-18.3), being more common in urban group; whereas pre-hypertension was more prevalent in rural participants (P<0.001). Follow-up rate at 5 years was 94%, 895 participants were re-assessed and 33 (3.3%) deaths were recorded. Overall incidence of hypertension was 1.73 (95%CI 1.36-2.20) per 100 person-years. In multivariable model and compared with the urban group, rural group had a greater risk of developing hypertension (RR 3.58; 95%CI 1.42-9.06). PAFs showed high waist circumference as the leading risk factor for the hypertension development in rural (19.1%), migrant (27.9%) and urban (45.8%) participants. Subjects from rural areas are at higher risk of developing hypertension relative to rural-urban migrant or urban groups. Central obesity was the leading risk factor for hypertension incidence in the three population groups

Obesity risk in rural, urban and rural-to-urban migrants: prospective results of the PERU MIGRANT study.

BACKGROUND: Although migration and urbanization have been linked with higher obesity rates, especially in low-resource settings, prospective information about the magnitude of these effects is lacking. We estimated the risk of obesity and central obesity among rural subjects, rural-to-urban migrants and urban subjects. METHODS: Prospective data from the PERU MIGRANT Study were analyzed. Baseline data were collected in 2007-2008 and participants re-contacted in 2012-2013. At follow-up, outcomes were obesity and central obesity measured by body mass index and waist circumference. At baseline, the primary exposure was demographic group: rural, rural-to-urban migrant and urban. Other exposures included an assets index and educational attainment. Cumulative incidence, incidence ratio (IR) and 95% confidence intervals (95% CI) for obesity and central obesity were estimated with Poisson regression models. RESULTS: At baseline, mean age (±s.d.) was 47.9 (±12.0) years, and 53.0% were females. Rural subjects comprised 20.2% of the total sample, whereas 59.7% were rural-to-urban migrants and 20.1% were urban dwellers. A total of 3598 and 2174 person-years were analyzed for obesity and central obesity outcomes, respectively. At baseline, the prevalence of obesity and central obesity was 20.0 and 52.5%. In multivariable models, migrant and urban groups had an 8- to 9.5-fold higher IR of obesity compared with the rural group (IR migrants=8.19, 95% CI=2.72-24.67; IR urban=9.51, 95% CI=2.74-33.01). For central obesity, there was a higher IR only among the migrant group (IR=1.95; 95% CI=1.22-3.13). Assets index was associated with a higher IR of central obesity (IR top versus bottom tertile 1.45, 95% CI=1.03-2.06). CONCLUSIONS: Peruvian urban individuals and rural-to-urban migrants show a higher incidence of obesity compared with their rural counterparts. Given the ongoing urbanization occurring in middle-income countries, the rapid development of increased obesity risk by rural-to-urban migrants suggests that measures to reduce obesity should be a priority for this group

Expression of Interest: The Atmospheric Neutrino Neutron Interaction Experiment (ANNIE)

Submitted for the January 2014 Fermilab Physics Advisory Committee meetingSubmitted for the January 2014 Fermilab Physics Advisory Committee meetingSubmitted for the January 2014 Fermilab Physics Advisory Committee meetingSubmitted for the January 2014 Fermilab Physics Advisory Committee meetingNeutron tagging in Gadolinium-doped water may play a significant role in reducing backgrounds from atmospheric neutrinos in next generation proton-decay searches using megaton-scale Water Cherenkov detectors. Similar techniques might also be useful in the detection of supernova neutrinos. Accurate determination of neutron tagging efficiencies will require a detailed understanding of the number of neutrons produced by neutrino interactions in water as a function of momentum transferred. We propose the Atmospheric Neutrino Neutron Interaction Experiment (ANNIE), designed to measure the neutron yield of atmospheric neutrino interactions in gadolinium-doped water. An innovative aspect of the ANNIE design is the use of precision timing to localize interaction vertices in the small fiducial volume of the detector. We propose to achieve this by using early production of LAPPDs (Large Area Picosecond Photodetectors). This experiment will be a first application of these devices demonstrating their feasibility for Water Cherenkov neutrino detectors

Comparison of visual and refractive results of Toric Implantable Collamer Lens with bioptics for myopic astigmatism

PURPOSE: To compare visual and refractive results of Toric Implantable Collamer Lens (TICL) and bioptics (ICL plus excimer corneal surgery) to treat myopic astigmatism. METHODS: Eighty-one eyes underwent TICL implantation and 83 eyes were treated with bioptics (corneal ablation was performed between 1.5 and 6 months after ICL implantation). Uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), refraction, adverse events, safety, and efficacy were evaluated 12 months postoperatively. RESULTS: At 12 months postoperatively, the mean spherical equivalent was -0.15 ± 0.36 diopters (D) in the TICL group and -0.08 ± 0.26 D in the bioptics group (p = 0.099). Sixty-six (81.5 %) and 78 (94.0 %) eyes were within ±0.50 D for TICL and bioptics groups, respectively. The mean Snellen UDVA was not statistically different between both procedures (p = 0.909); 53 (65.4 %) and 54 (65.1 %) eyes achieved at least 20/25 or better in TICL and bioptics groups, respectively. No eye had lost more than two lines of CDVA, and 32.1 % of eyes (26/81) in the TICL group and 57.8 % of eyes (48/83) in the bioptics group had better postoperative UDVA than preoperative CDVA (p < 0.001). Safety was not statistically different between groups (p = 0.464) while efficacy was significantly higher in the bioptics group (p = 0.000). Two eyes with a TICL were treated to correct TICL decentration. CONCLUSIONS: Bioptics showed slightly better outcomes in some clinical measures such as uncorrected visual acuity, efficacy, and refractive predictability. TICL implantation shows reliable results similar to bioptics. A single procedure with TICL implantation might be preferred, eliminating the inherent risks of laser treatments and the risks of a second surgical procedure.The authors have no proprietary interests in any of the materials mentioned in this article. This research was supported in part by a Universitat de Valencia Research Grant to Robert Montes-Mico (#SAF2009-13342 and #SAF2008-01114-E#) and Fundacao para a Ciencia e Tecnologia of Portugal through a Grant to Paulo Fernandes (#FCT-SFRH-BD-34303-2007#)

Utilization of focal therapy for patients discontinuing active surveillance of prostate cancer: Recommendations of an international Delphi consensus

BACKGROUND: With the advancement of imaging technology, focal therapy (FT) has been gaining acceptance for the treatment of select patients with localized prostate cancer (CaP). We aim to provide details of a formal physician consensus on the utilization of FT for patients with CaP who are discontinuing active surveillance (AS). METHODS: A 3-stage Delphi consensus on CaP and FT was conducted. Consensus was defined as agreement by ≥80% of physicians. An in-person meeting was attended by 17 panelists to formulate the consensus statement. RESULTS: Fifty-six respondents participated in this interdisciplinary consensus study (82% urologist, 16% radiologist, 2% radiation oncology). The participants confirmed that there is a role for FT in men discontinuing AS (48% strongly agree, 39% agree). The benefit of FT over radical therapy for men coming off AS is: less invasive (91%), has a greater likelihood to preserve erectile function (91%), has a greater likelihood to preserve urinary continence (91%), has fewer side effects (86%), and has early recovery post-treatment (80%). Patients will need to undergo mpMRI of the prostate and/or a saturation biopsy to determine if they are potential candidates for FT. Our limitations include respondent's biases and that the participants of this consensus may not represent the larger medical community. CONCLUSIONS: FT can be offered to men coming off AS between the age of 60 to 80 with grade group 2 localized cancer. This consensus from a multidisciplinary, multi-institutional, international expert panel provides a contemporary insight utilizing FT for CaP in select patients who are discontinuing AS

Characterizing, modelling and understanding the climate variability of the deep water formation in the North-Western Mediterranean Sea

Observing, modelling and understanding the climate-scale variability of the deep water formation (DWF) in the North-Western Mediterranean Sea remains today very challenging. In this study, we first characterize the interannual variability of this phenomenon by a thorough reanalysis of observations in order to establish reference time series. These quantitative indicators include 31 observed years for the yearly maximum mixed layer depth over the period 1980–2013 and a detailed multi-indicator description of the period 2007–2013. Then a 1980–2013 hindcast simulation is performed with a fully-coupled regional climate system model including the high-resolution representation of the regional atmosphere, ocean, land-surface and rivers. The simulation reproduces quantitatively well the mean behaviour and the large interannual variability of the DWF phenomenon. The model shows convection deeper than 1000 m in 2/3 of the modelled winters, a mean DWF rate equal to 0.35 Sv with maximum values of 1.7 (resp. 1.6) Sv in 2013 (resp. 2005). Using the model results, the winter-integrated buoyancy loss over the Gulf of Lions is identified as the primary driving factor of the DWF interannual variability and explains, alone, around 50 % of its variance. It is itself explained by the occurrence of few stormy days during winter. At daily scale, the Atlantic ridge weather regime is identified as favourable to strong buoyancy losses and therefore DWF, whereas the positive phase of the North Atlantic oscillation is unfavourable. The driving role of the vertical stratification in autumn, a measure of the water column inhibition to mixing, has also been analyzed. Combining both driving factors allows to explain more than 70 % of the interannual variance of the phenomenon and in particular the occurrence of the five strongest convective years of the model (1981, 1999, 2005, 2009, 2013). The model simulates qualitatively well the trends in the deep waters (warming, saltening, increase in the dense water volume, increase in the bottom water density) despite an underestimation of the salinity and density trends. These deep trends come from a heat and salt accumulation during the 1980s and the 1990s in the surface and intermediate layers of the Gulf of Lions before being transferred stepwise towards the deep layers when very convective years occur in 1999 and later. The salinity increase in the near Atlantic Ocean surface layers seems to be the external forcing that finally leads to these deep trends. In the future, our results may allow to better understand the behaviour of the DWF phenomenon in Mediterranean Sea simulations in hindcast, forecast, reanalysis or future climate change scenario modes. The robustness of the obtained results must be however confirmed in multi-model studies

Elastic and anelastic relaxation behaviour of perovskite multiferroics II: PbZr0.53_{0.53}Ti0.47_{0.47}O3_3 (PZT)–PbFe0.5_{0.5}Ta0.5_{0.5}O3_3 (PFT)

Elastic and anelastic properties of ceramic samples of multiferroic perovskites with nominal compositions across the binary join PbZr$_{0.53}$Ti$_{0.47}$O$_3$–PbFe$_{0.5}$Ta$_{0.5}$O$_3$ (PZT–PFT) have been assembled to create a binary phase diagram and to address the role of strain relaxation associated with their phase transitions. Structural relationships are similar to those observed previously for PbZr$_{0.53}$Ti$_{0.47}$O$_3$–PbFe$_{0.5}$Nb$_{0.5}$O$_3$ (PZT–PFN), but the magnitude of the tetragonal shear strain associated with the ferroelectric order parameter appears to be much smaller. This leads to relaxor character for the development of ferroelectric properties in the end member PbFe$_{0.5}$Ta$_{0.5}$O$_3$. As for PZT–PFN, there appear to be two discrete instabilities rather than simply a reorientation of the electric dipole in the transition sequence cubic–tetragonal–monoclinic, and the second transition has characteristics typical of an improper ferroelastic. At intermediate compositions, the ferroelastic microstructure has strain heterogeneities on a mesoscopic length scale and, probably, also on a microscopic scale. This results in a wide anelastic freezing interval for strain-related defects rather than the freezing of discrete twin walls that would occur in a conventional ferroelastic material. In PFT, however, the acoustic loss behaviour more nearly resembles that due to freezing of conventional ferroelastic twin walls. Precursor softening of the shear modulus in both PFT and PFN does not fit with a Vogel–Fulcher description, but in PFT there is a temperature interval where the softening conforms to a power law suggestive of the role of fluctuations of the order parameter with dispersion along one branch of the Brillouin zone. Magnetic ordering appears to be coupled only weakly with a volume strain and not with shear strain but, as with multiferroic PZT–PFN perovskites, takes place within crystals which have significant strain heterogeneities on different length scales.RUS facilities in Cambridge were established with funding from the Natural Environment Research Council (Grants NE/B505738/1, NE/F017081/1). The present work was supported by Grant No. EP/ I036079/1 from the Engineering and Physical Sciences Research Council. We thank Dr. Sam Crossley for his assistance with dielectric analysis and the use of his software to run those measurements. JAS gratefully acknowledges the hospitality of the Max Planck Institute for Chemical Physics of Solids. The Nanopaleomagnetism lab has received funding from the European Research Council under the European Union’s Seventh Framework Programme (FP/2007– 2013)/ERC Grant Agreement 320750. SED and HS acknowledge support from the Winton Programme for the physics of sustainability. HS also acknowledges support from the Funai Foundation for Information Technology and the British Council Japan Association. Part of the work was carried out at the University of Puerto Rico, supported by the DOEEBSCoR project DEG02-ER46526

Developing logistic software platforms: e-market place, a case study

This paper describes a framework for software development with emphasis on logistics platforms. Specifically, a case study is presented regarding the Logport program in Colombia’s Caribbean coast. The software development is based on the merging of modeling, design, and agile development techniques aimed towards software production. The agile methodologies discussed herein include Scrum, XP, and Crystal among others, and specific verification and validation aspects of CMMI 1.3 are evaluated. Furthermore, the integration of emerging technologies including elastic computing in cloud computing that allows scaled integration, security, load balancing, process speed, and high concurrency among other features are discussed. Finally, the proposed solutions cover actual and emergent needs in a B2B or B2C electronic commerce dynamic environment where suppliers and clients offer and demand transport, storage, and customs services. In this environment, their goal is to ensure there is added value to their logistics processes starting at the inputs and all the way to the outputs of the commercial business processes. Colombia’s Caribbean region is one such multimodal and multiport environment in which there is constant demand for low cost, time and storage optimization, and customs reliability for the businesspersons of this region, which serves as a Hub for the American Caribbean

Mediterranean Sea response to climate change in an ensemble of twenty first century scenarios

The Mediterranean climate is expected to become warmer and drier during the twenty-first century. Mediterranean Sea response to climate change could be modulated by the choice of the socio-economic scenario as well as the choice of the boundary conditions mainly the Atlantic hydrography, the river runoff and the atmospheric fluxes. To assess and quantify the sensitivity of the Mediterranean Sea to the twenty-first century climate change, a set of numerical experiments was carried out with the regional ocean model NEMOMED8 set up for the Mediterranean Sea. The model is forced by air–sea fluxes derived from the regional climate model ARPEGE-Climate at a 50-km horizontal resolution. Historical simulations representing the climate of the period 1961–2000 were run to obtain a reference state. From this baseline, various sensitivity experiments were performed for the period 2001–2099, following different socio-economic scenarios based on the Special Report on Emissions Scenarios. For the A2 scenario, the main three boundary forcings (river runoff, near-Atlantic water hydrography and air–sea fluxes) were changed one by one to better identify the role of each forcing in the way the ocean responds to climate change. In two additional simulations (A1B, B1), the scenario is changed, allowing to quantify the socio-economic uncertainty. Our 6-member scenario simulations display a warming and saltening of the Mediterranean. For the 2070–2099 period compared to 1961–1990, the sea surface temperature anomalies range from +1.73 to +2.97 °C and the SSS anomalies spread from +0.48 to +0.89. In most of the cases, we found that the future Mediterranean thermohaline circulation (MTHC) tends to reach a situation similar to the eastern Mediterranean Transient. However, this response is varying depending on the chosen boundary conditions and socio-economic scenarios. Our numerical experiments suggest that the choice of the near-Atlantic surface water evolution, which is very uncertain in General Circulation Models, has the largest impact on the evolution of the Mediterranean water masses, followed by the choice of the socio-economic scenario. The choice of river runoff and atmospheric forcing both have a smaller impact. The state of the MTHC during the historical period is found to have a large influence on the transfer of surface anomalies toward depth. Besides, subsurface currents are substantially modified in the Ionian Sea and the Balearic region. Finally, the response of thermosteric sea level ranges from +34 to +49 cm (2070–2099 vs. 1961–1990), mainly depending on the Atlantic forcing