Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

Background: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also found in the normal population. Conversely, homozygous mutations are rare in patient populations and have not been found in any unaffected individuals. Case presentation: We describe a consanguineous family carrying a deletion in CNTNAP2 predicted to abolish function of its protein product, CASPR2. Homozygous family members display epilepsy, facial dysmorphisms, severe intellectual disability and impaired language. We compared these patients with previously reported individuals carrying homozygous mutations in CNTNAP2 and identified a highly recognisable phenotype. Conclusions: We propose that CASPR2 loss produces a syndrome involving early-onset refractory epilepsy, intellectual disability, language impairment and autistic features that can be recognized as CASPR2 deficiency disorder. Further screening for homozygous patients meeting these criteria, together with detailed phenotypic and molecular investigations will be crucial for understanding the contribution of CNTNAP2 to normal and disrupted development

Risk factors and outcome among a large patient cohort with community-acquired acute hepatitis C in Italy

BACKGROUND: The epidemiology of acute hepatitis C has changed during the past decade in Western countries. Acute HCV infection has a high rate of chronicity, but it is unclear when patients with acute infection should be treated. METHODS: To evaluate current sources of hepatitis C virus (HCV) transmission in Italy and to assess the rate of and factors associated with chronic infection, we enrolled 214 consecutive patients with newly acquired hepatitis C during 1999-2004. The patients were from 12 health care centers throughout the country, and they were followed up for a mean (+/- SD) period of 14+/-15.8 months. Biochemical liver tests were performed, and HCV RNA levels were monitored. RESULTS: A total of 146 patients (68%) had symptomatic disease. The most common risk factors for acquiring hepatitis C that were reported were intravenous drug use and medical procedures. The proportion of subjects with spontaneous resolution of infection was 36%. The average timespan from disease onset to HCV RNA clearance was 71 days (range, 27-173 days). In fact, 58 (80%) of 73 patients with self-limiting hepatitis experienced HCV RNA clearance within 3 months of disease onset. Multiple logistic regression analyses showed that none of the variables considered (including asymptomatic disease) were associated with increased risk of developing chronic hepatitis C. CONCLUSIONS: These findings underscore the importance of medical procedures as risk factors in the current spread of HCV infection in Italy. Because nearly all patients with acute, self-limiting hepatitis C - both symptomatic and asymptomatic - have spontaneous viral clearance within 3 months of disease onset, it seems reasonable to start treatment after this time period ends to avoid costly and useless treatment

Área de Consolidación en Agroecología y Desarrollo Territorial. Un espacio curricular optativo para consolidar la formación de grado en la Facultad de Ciencias Agropecuarias - UNC

Ponencia presentada en 1º Congreso Argentino de Agroecología. "Otra agricultura es posible: Cultivando interacciones para el mañana". Mendoza, Argentina, 18 al 20 de septiembre de 2019.Fil: Ferrer, Guillermo. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Sánchez, Juan Vicente. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Arborno, Vilda Miryam. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Barrientos, Mario Alberto. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Cabanillas, Carmen. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Bergamín, Gerardo Antonio. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Bisio, Catalina. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Cabrol, Diego Antonio. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Cecaci, Diego Iván. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Domenech, Roberto. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Francavilla, Graciela. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Leguía, Héctor Luis. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias; Argentina.Fil: Luque, Stella M. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Pietrarelli, Liliana Teresa. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Ryan, Silvia Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Saal, Gabriel Alberto. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Silvetti, Felicitas M. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Soto, Gustavo S. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Un curso de grado optativo en agroecología se implementa en la Facultad de Ciencias Agropecuarias de la Universidad Nacional de Córdoba. Su objetivo es capacitar recursos humanos para la formulación y análisis de sistemas agroecológicos e implementar políticas de desarrollo territorial. En cinco cohortes han cursado 68 estudiantes y se elaboraron 27 TAI que están publicados en el repositorio de la UNC (https://rdu.unc.edu.ar/)Fil: Ferrer, Guillermo. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Sánchez, Juan Vicente. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Arborno, Vilda Miryam. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Barrientos, Mario Alberto. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Cabanillas, Carmen. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Bergamín, Gerardo Antonio. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Bisio, Catalina. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Cabrol, Diego Antonio. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Cecaci, Diego Iván. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Domenech, Roberto. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Francavilla, Graciela. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Leguía, Héctor Luis. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias; Argentina.Fil: Luque, Stella M. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Pietrarelli, Liliana Teresa. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Ryan, Silvia Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Saal, Gabriel Alberto. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Silvetti, Felicitas M. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina.Fil: Soto, Gustavo S. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias. Departamento de Desarrollo Rural; Argentina

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements