Rio de Janeiro State University

About: Rio de Janeiro State University is a education organization based out in Rio de Janeiro, Brazil. It is known for research contribution in the topics: Population & Large Hadron Collider. The organization has 16631 authors who have published 30919 publications receiving 465753 citations. The organization is also known as: UERJ & Rio de Janeiro State University.

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

Abstract: The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency.

Update of the guidelines for the publication of genetic population data.

Abstract: Due to the massive number of submissions of varying quality with population genetic data we decided one year ago to raise the threshold regarding the acceptance of this type of publications to ensure a high standard of published data and, therefore, we updated the FSI: Genetics 2010 guidelines [1] to a new set of recommendations [2]. In the 2013 guidelines in addition to some new requirements in the procedure and regarding ethical standards, we significantly increased the number of markers and samples required for submission to the journal of papers presenting population data alone, with no additional information on new methods or other forensically relevant findings. We have been working during last year with these new recommendations. During this period, we have received a number of critical comments from authors that we have considered and therefore we have decided to make some amendments in the requirements. The first change refers to the minimal number of autosomal STRs. The 2013 guidelines indicate that for data comprising autosomal STR genotypes only, 17 different autosomal STR loci are required as a minimum. This was based on the average number of STRs that most laboratories are routinely using – in most cases forensic laboratories are using at least two PCR multiplexes (commercial kits or homemade) on their routine work for a minimal number of 17 autosomal STR markers. However, this number would exclude laboratories and national and international compilation efforts that are working with just one kit, for some of the most commonly used kits. Whilst we certainly recognize the need to restrict the number of small data sets submitted we think that the forensic community would benefit from the publication of a large and nationally important data set such as the ones that are being generated in some countries. For this reason we have decided to reinstate the 2010 recommendations requiring 15 STRs only. Concerning X chromosome a minimum number of 12 STRs will be required and for the Y chromosome a minimum of 17 STRs will be required as well, taking into account that the core minimum haplotype (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385) [3,4] must be provided if it has not been previously analyzed in the same population sample. Collaborative efforts to produce large datasets are strongly encouraged and, therefore, the minimal number of markers should not be a limitation to the publication of large National or International collaborative databasing efforts when a significant number of laboratories and samples are involved. There are also changes in the requirements for the minimum number of samples. We maintain the threshold of 500 samples for

Search for additional neutral MSSM Higgs bosons in the τ τ final state in proton-proton collisions at √s=13 TeV

Abstract: A search is presented for additional neutral Higgs bosons in the τ τ final state in proton-proton collisions at the LHC. The search is performed in the context of the minimal supersymmetric extension of the standard model (MSSM), using the data collected with the CMS detector in 2016 at a center-of-mass energy of 13 TeV, corresponding to an integrated luminosity of 35.9 fb−1. To enhance the sensitivity to neutral MSSM Higgs bosons, the search includes production of the Higgs boson in association with b quarks. No significant deviation above the expected background is observed. Model-independent limits at 95% confidence level (CL) are set on the product of the branching fraction for the decay into τ leptons and the cross section for the production via gluon fusion or in association with b quarks. These limits range from 18 pb at 90 GeV to 3.5 fb at 3.2 TeV for gluon fusion and from 15 pb (at 90 GeV) to 2.5 fb (at 3.2 TeV) for production in association with b quarks, assuming a narrow width resonance. In the m h hod + scenario these limits translate into a 95% CL exclusion of tan β > 6 for neutral Higgs boson masses below 250 GeV, where tan β is the ratio of the vacuum expectation values of the neutral components of the two Higgs doublets. The 95% CL exclusion contour reaches 1.6 TeV for tan β = 60.