A novel mutation in SACS gene in a family from southern Italy

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS

Report of Working Group on Widely Distributed Stocks (WGWIDE).

As a consequence of the impact of the COVID pandemic on international travel which prevented the traditional meeting from taking place, the Working Group on Widely Distributed Stocks (WGWIDE) met online via WebEx hosted by ICES. Prior to the 2020 meeting, the generic ToRs for species and regional working groups were re-prioritised by ACOM to allow the WG to focus primarily on those ToRs most applicable to the provision of advice. WGWIDE reports on the status and considerations for management of Northeast Atlantic mackerel, blue whiting, Western and North Sea horse mackerel, Northeast Atlantic boarfish, Norwegian springspawning herring, striped red mullet (Subareas 6, 8 and Divisions 7.a-c, e-k and 9.a), and red gurnard (Subareas 3, 4, 5, 6, 7, and 8) stocks. Northeast Atlantic (NEA) Mackerel. This stock is highly migratory and widely distributed throughout the Northeast Atlantic with significant fisheries is most ICES subareas. A diverse range of fleets from smaller artisanal, handline vessels to large (100m+) factory freezer vessels and modern RSW trawlers and purse seiners take part in what is one of the most valuable European fisheries. The assessment conducted in 2020 is an update assessment, based on the configuration agreed during the most recent inter-benchmark exercise in 2019 and incorporates the most recent data available from sampling of the commercial catch in 2019, the final 2019 egg survey SSB estimate, an updated recruitment index and tagging time series along with 2020 survey data from the IESSNS swept area survey. Advice is given based on stock reference points which were updated during a management strategy evaluation carried out in 2020. Following a strong increase from 2007 to 2014, SSB has been declining although it remains well above MSY Btrigger. Fishing mortality has been below FMSY since 2016. There have been a number of large year classes since 2001 with above average recruitment over much of the most recent decade. Blue Whiting. This pelagic gadoid is widely distributed in the eastern part of the North Atlantic. The 2020 update assessment followed the protocol from the most recent inter-benchmark in 2016 and used preliminary catch data from 2020. Due to the cancellation of the 2020 acoustic survey, this data was not available. The effect on the assessment was minimal and limited to increases in uncertainty of the terminal year estimates. The SSB continues to decrease from the most recent maximum in 2017 mainly due to below average recruitment since 2017, although it remains above MSY Btrigger. Fishing mortality has been above FMSY since 2014. Norwegian Spring Spawning Herring. This is one of the largest herring stocks in the world. It is highly migratory, spawning along the Norwegian coast and feeding throughout much of the Norwegian Sea. The 2020 assessment is based on an implementation of the XSAM assessment model introduced at the benchmark in 2016. This years’ assessment indicates that the stock is continuing to decline from the peak in 2008 of 7Mt to just above MSY Btrigger due to successive years of average or below average recruitment. Catch advice for 2021 is given on the basis of the agreed management plan and represents a substantial increase over the 2020 advice due to an upward revision in the estimate of the 2016 year-class which is considered to be the most significant year-class since 2004

Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago

Background: Literature suggests colonic resection and primary anastomosis (RPA) instead of Hartmann's procedure (HP) for the treatment of left-sided colonic emergencies. We aim to evaluate the surgical options globally used to treat patients with acute left-sided colonic emergencies and the factors that leading to the choice of treatment, comparing HP and RPA. Methods: This is a prospective, international, multicenter, observational study registered on ClinicalTrials.gov. A total 1215 patients with left-sided colonic emergencies who required surgery were included from 204 centers during the period of March 1, 2020, to May 31, 2020. with a 1-year follow-up. Results: 564 patients (43.1%) were females. The mean age was 65.9 ± 15.6 years. HP was performed in 697 (57.3%) patients and RPA in 384 (31.6%) cases. Complicated acute diverticulitis was the most common cause of left-sided colonic emergencies (40.2%), followed by colorectal malignancy (36.6%). Severe complications (Clavien-Dindo ≥ 3b) were higher in the HP group (P < 0.001). 30-day mortality was higher in HP patients (13.7%), especially in case of bowel perforation and diffused peritonitis. 1-year follow-up showed no differences on ostomy reversal rate between HP and RPA. (P = 0.127). A backward likelihood logistic regression model showed that RPA was preferred in younger patients, having low ASA score (≤ 3), in case of large bowel obstruction, absence of colonic ischemia, longer time from admission to surgery, operating early at the day working hours, by a surgeon who performed more than 50 colorectal resections. Conclusions: After 100 years since the first Hartmann's procedure, HP remains the most common treatment for left-sided colorectal emergencies. Treatment's choice depends on patient characteristics, the time of surgery and the experience of the surgeon. RPA should be considered as the gold standard for surgery, with HP being an exception

Clinical features and outcomes of elderly hospitalised patients with chronic obstructive pulmonary disease, heart failure or both

Background and objective: Chronic obstructive pulmonary disease (COPD) and heart failure (HF) mutually increase the risk of being present in the same patient, especially if older. Whether or not this coexistence may be associated with a worse prognosis is debated. Therefore, employing data derived from the REPOSI register, we evaluated the clinical features and outcomes in a population of elderly patients admitted to internal medicine wards and having COPD, HF or COPD + HF. Methods: We measured socio-demographic and anthropometric characteristics, severity and prevalence of comorbidities, clinical and laboratory features during hospitalization, mood disorders, functional independence, drug prescriptions and discharge destination. The primary study outcome was the risk of death. Results: We considered 2,343 elderly hospitalized patients (median age 81 years), of whom 1,154 (49%) had COPD, 813 (35%) HF, and 376 (16%) COPD + HF. Patients with COPD + HF had different characteristics than those with COPD or HF, such as a higher prevalence of previous hospitalizations, comorbidities (especially chronic kidney disease), higher respiratory rate at admission and number of prescribed drugs. Patients with COPD + HF (hazard ratio HR 1.74, 95% confidence intervals CI 1.16-2.61) and patients with dementia (HR 1.75, 95% CI 1.06-2.90) had a higher risk of death at one year. The Kaplan-Meier curves showed a higher mortality risk in the group of patients with COPD + HF for all causes (p = 0.010), respiratory causes (p = 0.006), cardiovascular causes (p = 0.046) and respiratory plus cardiovascular causes (p = 0.009). Conclusion: In this real-life cohort of hospitalized elderly patients, the coexistence of COPD and HF significantly worsened prognosis at one year. This finding may help to better define the care needs of this population

26th Annual Computational Neuroscience Meeting (CNS*2017): Part 3 - Meeting Abstracts - Antwerp, Belgium. 15–20 July 2017

This work was produced as part of the activities of FAPESP Research,\ud Disseminations and Innovation Center for Neuromathematics (grant\ud 2013/07699-0, S. Paulo Research Foundation). NLK is supported by a\ud FAPESP postdoctoral fellowship (grant 2016/03855-5). ACR is partially\ud supported by a CNPq fellowship (grant 306251/2014-0)

A three-dimensional view on biodiversity changes: spatial, temporal, and functional perspectives on fish communities in the Baltic Sea

Fisheries and marine ecosystem-based management requires a holistic understanding of the dynamics of fish communities and their responses to changes in environmental conditions. Environmental conditions can simultaneously shape the spatial distribution and the temporal dynamics of a population, which together can trigger changes in the functional structure of communities. Here, we developed a comprehensive framework based on complementary multivariate statistical methodologies to simultaneously investigate the effects of environmental conditions on the spatial, temporal and functional dynamics of species assemblages. The framework is tested using survey data collected during more than 4000 fisheries hauls over the Baltic Sea between 2001 and 2016. The approach revealed the Baltic fish community to be structured into three sub-assemblages along a strong and temporally stable salinity gradient decreasing from West to the East. Additionally, we highlight a mismatch between species and functional richness associated with a lower functional redundancy in the Baltic Proper compared with other sub-areas, suggesting an ecosystem more susceptible to external pressures. Based on a large dataset of community data analysed in an innovative and comprehensive way, we could disentangle the effects of environmental changes on the structure of biotic communities-key information for the management and conservation of ecosystems

Scientific, Technical and Economic Committee for Fisheries. Mediterranean Fisheries Assessments Part 2 (STECF-14-19)

The STECF expert working group "EWG 1419 - Mediterranean assessment part 2", has convened in Rome during 19-23 January 2015 and addressed a series of issues as requested by DG MARE in the correspomnding terms of references. The detailed output of this working group efforts is included in the following report. The report was reviewed by the STECF spring plenary during 13-17 April 201

Diferentes tipos de milheto utilizados na alimentação de suínos em crescimento e terminação Different types of pearl millets (Pennisetum glaucum (L.) R. Brown) on growing - finishing pigs feeding

Um experimento de desempenho foi conduzido com o objetivo de avaliar a viabilidade nutricional e econômica da utilização de rações com diferentes tipos de milheto, com nível de inclusão de 60%, na alimentação de suínos, nas fases de crescimento e terminação. Foram utilizados 40 suínos híbridos na fase de crescimento (30,3&plusmn;2,9kg) e terminação (54,3&plusmn;4,1kg), distribuídos em um delineamento em blocos casualizados, com cinco tratamentos, quatro blocos e dois suínos por unidade experimental. Os tratamentos consistiram de uma ração à base de milho e farelo de soja e outras quatro com a inclusão de 60% de diferentes tipos de milheto (IAPAR, COMUM, BN2 e BN2S, sendo este com espigueta). Não foram observadas diferenças entre os tipos de milheto para consumo diário de ração, ganho diário de peso, conversão alimentar e características de carcaça. Os resultados sugerem que é viável a inclusão de 60% de milheto da linhagem IAPAR, da cultivar "COMUM", das variedades BN2 ou BN2S (com a espigueta), nas rações de suínos em crescimento e terminação.<br>A performance trial was carried out to evaluate the nutritional and economic feasibility of growing-finishing pig diets with 60% of different pearl millets. Forty crossbreed pigs were used during growing (initial weight 30.3&plusmn;2.9kg) and finishing (54.3&plusmn;4.1kg) phases. Pigs were allotted in a randomized blocks design with 5 treatments, 4 blocs and 2 pigs per experimental unit. The treatments consisted in a corn-soybean meal and other 4 diets containing 60% of inclusion of different types of pearl millet (IAPAR, COMUM, BN2 and BN2S. The last is pearl millet BN2 in spikelets). There was not difference for types of pearl millet on daily feed intake, daily weight gain, feed: gain ratio and carcass traits. The results suggested that it is possible to use 60% of IAPAR, COMUM, BN2 and BN2S pearl millet in growing-finishing pig diets