Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

Objectives: Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated mutations, we report here on the sequencing results of the PTH1R gene in 70 index PFE cases. Materials and methods: Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases. Results: We identified a total of 30 unique variants, of which 12 were classified as pathogenic based on their deleterious consequences on PTH1R protein while 16 changes were characterized as unclassified variants with as yet unknown effects on disease pathology. The remaining two variants represent common polymorphisms. Conclusions: Our data significantly increase the number of presently known unique PFE-causing PTH1R mutations and provide a series of variants with unclear pathogenicity which will require further in vitro assaying to determine their effects on protein structure and function. Clinical relevance: Management of PTH1R-associated PFE is problematic, in particular when teeth are exposed to orthodontic force. Therefore, upon clinical suspicion of PFE, molecular DNA testing is indicated to support decision making for further treatment options. © 2013 Springer-Verlag Berlin Heidelberg.

Search for narrow resonances using the dijet mass spectrum in pp collisions at √s=8 TeV

Results are presented of a search for the production of new particles decaying to pairs of partons (quarks, antiquarks, or gluons), in the dijet mass spectrum in proton-proton collisions at √s=8 TeV. The data sample corresponds to an integrated luminosity of 4.0 fb-1, collected with the CMS detector at the LHC in 2012. No significant evidence for narrow resonance production is observed. Upper limits are set at the 95% confidence level on the production cross section of hypothetical new particles decaying to quark-quark, quark-gluon, or gluon-gluon final states. These limits are then translated into lower limits on the masses of new resonances in specific scenarios of physics beyond the standard model. The limits reach up to 4.8 TeV, depending on the model, and extend previous exclusions from similar searches performed at lower collision energies. For the first time mass limits are set for the Randall-Sundrum graviton model in the dijet channel. © 2013 CERN. Published by the American Physical Society under the terms of the http://creativecommons.org/licenses/by/3.0/ Creative Commons Attribution 3.0 License. Further distribution of this work must maintain attribution to the author(s) and the published article's title, journal citation, and DOI.

Molecular epidemiology and extended-spectrum β-lactamases production of klebsiella pneumoniae isolated from three dairy herds

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Pollen spectrum of propolis samples from São Paulo State, Brazil

The pollen spectrum of propolis is a good indicative of the phytogeographical origin of the bee product and the local flora available for bee visiting. The present study aimed to perform pollen analysis of propolis produced by Apis mellifera L., in the São Paulo State, Brazil. Propolis samples were directly obtained from beekeepers and slides were prepared for qualitative and quantitative analysis of pollen after propolis extraction. According to the results twenty-eight types of pollen were found and distributed in fifteen botanical families. Pollens from Mimosoideae and Myrtaceae types were found in all samples. In São Paulo State, there is a wide variety of vegetal sources which are components of the final propolis composition.

SPECTRUM OF STOCHASTIC ADDING MACHINES AND FIBERED JULIA SETS

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for heavy resonances in the W/Z-tagged dijet mass spectrum in pp collisions at 7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Streptococcus Mutans Photoinactivation by Combination of Short Exposure of a Broad-Spectrum Visible Light and Low Concentrations of Photosensitizers

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Leaf anatomical traits corroborate the leaf economic spectrum: a case study with deciduous forest tree species

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The biopsychosocial processes in autism spectrum disorder

Background: Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. Method: Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”. Results: The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. Conclusions: The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.

Observation of a peaking structure in the J/psi phi mass spectrum from B-+/- -> J/psi phi K-+/- decays

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Optical spectrum of bottom-up graphene nanoribbons: towards efficient atom-thick excitonic solar cells

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Optimized design of substrate-integrated hollow waveguides for mid-infrared gas analyzers

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Search for jet extinction in the inclusive jet-p(T) spectrum from proton-proton collisions at root s=8 TeV

The first search at the LHC for the extinction of QCD jet production is presented, using data collected with the CMS detector corresponding to an integrated luminosity of 10.7 fb-1 of proton-proton collisions at a center-of-mass energy of 8 TeV. The extinction model studied in this analysis is motivated by the search for signatures of strong gravity at the TeV scale (terascale gravity) and assumes the existence of string couplings in the strong-coupling limit. In this limit, the string model predicts the suppression of all high-transverse-momentum standard model processes, including jet production, beyond a certain energy scale. To test this prediction, the measured transverse-momentum spectrum is compared to the theoretical prediction of the standard model. No significant deficit of events is found at high transverse momentum. A 95% confidence level lower limit of 3.3 TeV is set on the extinction mass scale.

Spectrum Distribution in Cognitive Radio: Error Correcting Codes Perspective

Cognitive radio is a growing zone in wireless communication which offers an opening in complete utilization of incompetently used frequency spectrum: deprived of crafting interference for the primary (authorized) user, the secondary user is indorsed to use the frequency band. Though, scheming a model with the least interference produced by the secondary user for primary user is a perplexing job. In this study we proposed a transmission model based on error correcting codes dealing with a countable number of pairs of primary and secondary users. However, we obtain an effective utilization of spectrum by the transmission of the pairs of primary and secondary users' data through the linear codes with different given lengths. Due to the techniques of error correcting codes we developed a number of schemes regarding an appropriate bandwidth distribution in cognitive radio.

Violence against children and adolescents: the importance of knowledge of the spectrum of bruise colors in its diagnosis

Introduction: One of the violence types more observed against children is the physical abuse, which produces many types of traumatic injuries. Contusions are common trauma signs and may indicate aggression when frequently present in locations where accidental injuries are rare. Contusions in skin undergo color changes with the passage of time, and such change in color is called “spectrum of bruise colors of Legrand du Saulle”. Thus, it is possible to estimate the age of the lesion based on the evaluation of color. Injuries caused by child abuse often reach regions of head, face and neck, because they are exposed and easily accessible. Therefore, the dentist is responsible with regard to the diagnosis and the actions to be undertaken against the cases of child abuse. Objective: To present and discuss the significance of the spectrum of bruise colors as a considerable visible trace in suspicion of violence against children and adolescents, during dentists’ clinical routine. Literature review: The study of the “spectrum of bruise colors of Legrand du Saulle” refers to the estimation of the age of the injury, in respect to the color change. The application of this study is of great value for identify if a lesion occurred from a single incident or from multiple incidents, especially in cases where it occurs in the same region of the body, indicative of repetitive trauma. Conclusion: The spectrum of bruise colors is very important for health professionals, such as dentists, for the identification or suspicion of cases of abuse against children and adolescents. As great part of the lesions originated of abuse involve the areas of head and neck, it is unacceptable that these professionals are unaware of the basic signs to help in early diagnosis, which is the case of the colors of the lesions. However, concerning the chronology of the spectrum of bruise colors, it is not possible to establish rigorous times.