The Next Generation Event Horizon Telescope Collaboration: History, Philosophy, and Culture

This white paper outlines the plans of the History Philosophy Culture Working Group of the Next Generation Event Horizon Telescope Collaboration

Editorial introduction to the special issue “The Renaissance of Einstein’s Theory of Gravitation”

[No abstract available

The impact of the COVID-19 pandemic on people with neurological disorders: an urgent need to enhance the health care system's preparedness

The major ethical issue posed by the COVID 19 pandemic are discussed with special reference to the impact on acute and chronic neurological disorder

The Next Generation Event Horizon Telescope Collaboration: History, Philosophy, and Culture

This white paper outlines the plans of the History Philosophy Culture Working Group of the Next Generation Event Horizon Telescope Collaboration.Comment: 23 pages, 1 figur

Increased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil

International audienceBACKGROUND: Choroid plexus carcinomas (CPC) are rare tumors predominantly found in children. Given the high frequency of the germline R337H mutation in the TP53 gene in southern Brazil, we have evaluated the frequency of the R337H mutation in families with CPC in children. METHODOLOGY/PRINCIPAL FINDINGS: The present series included 29 patients that were admitted to the same institution from 1992 to 2010, including 22 children with CPC (0.08-13.6 years of age at diagnosis) and 7 children with papilloma of the choroid plexus (Pp; 0.5-9.8 years of age). Surgical resection was possible in 28 children. Blood and/or tumor DNA was extracted and analyzed using PCR-RFLP and results were confirmed by sequencing 240 bp of the TP53 exon 10. The patients, all parents, and some relatives submitted samples for blood DNA analysis. In addition, we have also examined the presence of the mutation in DNA from paraffin-embedded tumor samples to evaluate loss of heterozygosity. We found 63.3% (14/22) of the CPC patients positive for the germline R337H mutation; CPC samples were either heterozygous (n = 7), lost only the wild-type (n = 4), or only the R337H copy (n = 2). One CPC sample was not available. All Pp cases (7/7, 100%) were negative for R337H. Cure (>5 years survival free of disease) was observed in 18.1% of the CPC cases with the R337H mutation (2/11), 71.4% of the Pp (5/7), and 25% of CPC cases negative for the R337H mutation (2/8). Family history of cancer (with 2 or more cancer cases) was exclusively identified on the parental side segregating the R337H mutation, and 50% (7/14) of them were compatible with Li-Fraumeni-like syndrome. SIGNIFICANCE: Our results show for the first time that the R337H TP53 mutation is responsible for 63% of the CPC cases in children, suggesting a higher incidence of CPC in southern Brazil

Hacia la Sociedad de la Información y el Conocimiento: Informe 2013

La importancia de este Informe anual del Prosic: “Hacia la Sociedad de la Información y el Conocimiento en Costa Rica, 2013” radica entre otros elementos, en la exploración de dimensiones diversas concernientes a esta nueva era del saber, a la innovación y a la incorporación de las tecnologías de información y comunicación en la interacción social cotidiana, tanto en el ámbito privado como público; en general en todos los sectores de esta sociedad cada vez en mayor convergencia. Desde hace ocho años el Prosic realiza un informe anual, sobre cómo se ha ido desarrollando las nuevas tecnologías; hemos dado cuenta de las profundas transformaciones que ha tenido la sociedad costarricense gracias a las TIC y por eso consideramos importante hacer un recuento de los diversos temas tratados. Desde el primer informe 2006 hasta este 2013 hemos trabajado en temas básicos como la Brecha Digital, Infraestructura, Conectividad, Gobierno Digital, Marco Institucional y Regulatorio; Acceso y Uso y la Industria TIC.UCR::Rectoría::Programa Sociedad de la Información y el Conocimiento (PROSIC

Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

Dense genotype data can be used to detect chromosome fragments inherited from a common ancestor in apparently unrelated individuals. A disease-causing mutation inherited from a common founder may thus be detected by searching for a common haplotype signature in a sample population of patients. We present here FounderTracker, a computational method for the genome-wide detection of founder mutations in cancer using dense tumor SNP profiles. Our method is based on two assumptions. First, the wild-type allele frequently undergoes loss of heterozygosity (LOH) in the tumors of germline mutation carriers. Second, the overlap between the ancestral chromosome fragments inherited from a common founder will define a minimal haplotype conserved in each patient carrying the founder mutation. Our approach thus relies on the detection of haplotypes with significant identity by descent (IBD) sharing within recurrent regions of LOH to highlight genomic loci likely to harbor a founder mutation. We validated this approach by analyzing two real cancer data sets in which we successfully identified founder mutations of well-characterized tumor suppressor genes. We then used simulated data to evaluate the ability of our method to detect IBD tracts as a function of their size and frequency. We show that FounderTracker can detect haplotypes of low prevalence with high power and specificity, significantly outperforming existing methods. FounderTracker is thus a powerful tool for discovering unknown founder mutations that may explain part of the “missing” heritability in cancer. This method is freely available and can be used online at the FounderTracker website

Development of a Nomogram Predicting the Risk of Persistence/Recurrence of Cervical Dysplasia

Background: Cervical dysplasia persistence/recurrence has a great impact on women's health and quality of life. In this study, we investigated whether a prognostic nomogram may improve risk assessment after primary conization. Methods: This is a retrospective multi-institutional study based on charts of consecutive patients undergoing conization between 1 January 2010 and 31 December 2014. A nomogram assessing the importance of different variables was built. A cohort of patients treated between 1 January 2015 and 30 June 2016 was used to validate the nomogram. Results: A total of 2966 patients undergoing primary conization were analyzed. The median (range) patient age was 40 (18-89) years. At 5-year of follow-up, 6% of patients (175/2966) had developed a persistent/recurrent cervical dysplasia. Median (range) recurrence-free survival was 18 (5-52) months. Diagnosis of CIN3, presence of HR-HPV types, positive endocervical margins, HPV persistence, and the omission of HPV vaccination after conization increased significantly and independently of the risk of developing cervical dysplasia persistence/recurrence. A nomogram weighting the impact of all variables was built with a C-Index of 0.809. A dataset of 549 patients was used to validate the nomogram, with a C-index of 0.809. Conclusions: The present nomogram represents a useful tool for counseling women about their risk of persistence/recurrence after primary conization. HPV vaccination after conization is associated with a reduced risk of CIN2+

The Next Generation Event Horizon Telescope Collaboration: History, Philosophy, and Culture

This white paper outlines the plans of the History Philosophy Culture Working Group of the Next Generation Event Horizon Telescope Collaboration

Hacia la Sociedad de la Información y el Conocimiento: Informe 2012

Por séptimo año consecutivo el Prosic presenta su informe anual “Hacia la Sociedad de la Información y el Conocimiento en Costa Rica, 2012”, cuyo propósito es aportar cada año nueva información sobre cómo progresan las tecnologías de la información y comunicación en los diferentes sectores de la sociedad. La Web es hoy en día la mayor fuente de información; definitivamente la forma de comunicarnos ha cambiado: la inmediatez del correo electrónico, los SMS, las redes sociales, el microblogging, los datos abiertos entre muchos otros, abren un gran abanico de oportunidades en la interactividad del quehacer diario: trabajo, estudios, investigación, diversión, familia etc. En esta era de la información las nuevas tecnologías están marcando un cambio fundamental en nuestro país; para muchos habitantes de la ciudad, es casi imposible imaginar la vida sin las TIC. La importancia de este Informe anual del Prosic reside, entre otros elementos, en la exploración de dimensiones diversas concernientes a la incorporación de las tecnologías de información y comunicación en la interacción social cotidiana, tanto en el ámbito privado como público, en la educación, en la salud, en la ciencia y la investigación, la ingeniería, la física y en la economía; en fin en todos los sectores de esta sociedad de la información cada vez en mayor convergencia.UCR::Rectoría::Programa Sociedad de la Información y el Conocimiento (PROSIC