Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

ICARUSS : an effective model for risk factor management in stroke survivors

Background and purpose: After an initial stroke, the risk of recurrent stroke is high. Models that implement best-practice recommendations for risk factor management in stroke survivors to prevent stroke recurrence remain elusive. We examined a model which focuses on vascular risk factor management to prevent stroke recurrence in survivors returning to their primary care physicians. This model is coordinated from the stroke unit, integrates specialist stroke services with primary care physicians, and directly involves patients and carers in risk factor management. It is underpinned by the shared care principle in which there is joint participation of specialists as well as primary care physicians in a planned, integrated delivery of care with ongoing involvement of patients and carers, a structure which encourages implementation of best-practice recommendations as well as transferability and sustainability. We hypothesized that an integrated, multimodal intervention based on a shared-care model which supports joint participation of stroke specialists and primary care physicians would improve the implementation of best-practice recommendations for risk factor management in stroke survivors returning to the community. Methods: We undertook a double-blind randomized controlled trial, testing the model in three Australian cities using stroke survivors admitted to stroke units and discharged from hospital to return to their primary care physicians. The model was a shared care, multifaceted integrated program which included bidirectional feedback between general practitioner and specialist unit, education, and engagement of patient and carer in self-management with ongoing input from a multidisciplinary team. The primary endpoint was improvement or abolition of risk factors such as raised blood pressure, diabetes, hyperlipidemia, the modification of adverse life-style factors such as lack of exercise, smoking and alcohol abuse and adherence to preventive medication at one year. Intermediate measurement points were scheduled at three monthly intervals. Analysis was by intention to treat, evaluated by covariance or a linear model adjusting for confounding factors or variance of base-line risk factors. The study was registered as ACTRN = 1261100026498. Results: The study population was as follows: intervention (n = 112), control (n = 137). At baseline, there was no statistical difference between the groups for any variable. At the 12-month evaluation, there was a significant decrease in systolic blood pressure from baseline in the intervention group of 5.2 mmHg (p < 0.01). This change was not observed in the control group (p = 0.29). Moreover, at 12 months the mean systolic blood pressure in the intervention group was 129.4 mmHg (SD 14.7), a result which was not obtained in controls. Fasting total cholesterol as well as triglycerides was reduced significantly in the intervention group (both p < 0.01) but this was not the case in the control group (p = 0.11 and p = 0.27, respectively). At 12 months, there was no change in BMI in the intervention group but there was a significant increase in BMI (p = 0.02) in the control group. At 12 months in the intervention group, the mean distance walked with ease compared to the baseline measurements was increased by a mean distance of 600 m while in the control group the distance walked with ease was reduced compared to that measured at baseline. At 12 months, the Barthel index in the intervention group demonstrated improved function (p = 0.01), but no change was observed in controls. At 12 months in the intervention group, there was a significant decrease in number of standard alcoholic drinks consumed per week compared to the baseline (p = 0.04). This was not observed in the control group (p = 0.34). Conclusion: In stroke survivors, the ICARUSS (Integrated Care for the Reduction of Secondary Stroke) model is superior to usual care with respect to best-practice recommendations for traditional risk factors as well as behavioral and functional outcomes

The Stroke and Carer Optimal Health Program (SCOHP) to enhance psychosocial health Study protocol for a randomized controlled trial

Stroke is a leading cause of disability and distress, and often profoundly affects the quality of life of stroke survivors and their carers. With the support of carers, many stroke survivors are returning to live in the community despite the presence of disability and ongoing challenges. The sudden and catastrophic changes caused by stroke affects the mental, emotional and social health of both stroke survivors and carers. The aim of this study is to evaluate a Stroke and Carer Optimal Health Program (SCOHP) that adopts a person-centred approach and engages collaborative therapy to educate, support and improve the psychosocial health of stroke survivors and their carers

A method for risk assessment for three contaminated sites in Northern Italy

A stepwise human health risk assessment procedure carried out using American Society for Testing and Materials methodology was applied to three contaminated sites located in northern Italy: ail uncontrolled landfill. an abandoned industrial site and an industrial waste contaminated land. Two different tiers of analysis were performed by means of the analytical model RBCA Tool Kit and the numerical model API-DSS, respectively. The latter was applied according to both a deterministic and a probabilistic risk analysis. The comparison of the two approaches highlighted the great benefit provided by probabilistic analysis for the risk assessment based on site specific parameters and more complex models, in particular for groundwater exposure route. Finally, the risk-based site specific target levels were compared to the generic regulatory threshold limits fixed by the Italian regulation. The comparison showed the regulatory limits generally too restrictive for non-carcinogenic Substances but less protective for carcinogenic chemicals, outlining the need of a site-specific risk assessment especially for carcinogenic substances

Post-conjunction detection of β Pictoris b with VLT/SPHERE

accepted by A&AInternational audienceContext. With an orbital distance comparable to that of Saturn in the solar system, β Pictoris b is the closest (semi-major axis ≃9 au) exoplanet that has been imaged to orbit a star. Thus it offers unique opportunities for detailed studies of its orbital, physical, and atmospheric properties, and of disk-planet interactions. With the exception of the discovery observations in 2003 with NaCo at the Very Large Telescope (VLT), all following astrometric measurements relative to β Pictoris have been obtained in the southwestern part of the orbit, which severely limits the determination of the planet’s orbital parameters.Aims. We aimed at further constraining β Pictoris b orbital properties using more data, and, in particular, data taken in the northeastern part of the orbit.Methods. We used SPHERE at the VLT to precisely monitor the orbital motion of beta β Pictoris b since first light of the instrument in 2014.Results. We were able to monitor the planet until November 2016, when its angular separation became too small (125 mas, i.e., 1.6 au) and prevented further detection. We redetected β Pictoris b on the northeast side of the disk at a separation of 139 mas and a PA of 30° in September 2018. The planetary orbit is now well constrained. With a semi-major axis (sma) of a = 9.0 ± 0.5 au (1σ), it definitely excludes previously reported possible long orbital periods, and excludes β Pictoris b as the origin of photometric variations that took place in 1981. We also refine the eccentricity and inclination of the planet. From an instrumental point of view, these data demonstrate that it is possible to detect, if they exist, young massive Jupiters that orbit at less than 2 au from a star that is 20 pc away