Tumores Odontogénicos Queratoquísticos Múltiplos em Síndrome de Gorlin-Goltz

Introdução: A síndrome de Gorlin‐Goltz ou síndrome dos basaliomas nevoides múltiplos é uma patologia autossómica dominante, provocada por uma mutação no gene de supressão tumoral PTCH, localizado no cromossoma 9 (q22,3‐q31). As principais manifestações clínicas são o aparecimento de múltiplos carcinomas de células basais, associado a alterações osteoesqueléticas e a tumores odontogénicos queratoquísticos. Estes últimos estão presentes em 80% dos casos e podem ser diagnosticados nas primeiras décadas de vida, constituindo geralmente a primeira manifestação da síndrome. São habitualmente indolores, podem ser múltiplos, afetando qualquer região dos maxilares e estando quase sempre relacionados com alterações da erupção dentária. É frequente a presença de outras anomalias craniofaciais, nomeadamente fenda lábio‐palatina, bosseladura frontal e temporoparietal, macrocefalia e hipertelorismo. Descrição do caso clínico: Rapaz de 13 anos, proveniente dos Açores, referenciado a consulta hospitalar por múltiplas lesões hipertransparentes dos maxilares; antecedentes de parto pré‐termo, macrocefalia, pectus carinatus, hipercifose dorsal e atrofia dos músculos da cintura escapular. Objetivamente, apresentava bosseladura frontal e temporoparietal, face assimétrica, implantação baixa dos pavilhões auriculares e tumefação mandibular bilateral. No exame objetivo, reconhecia‐se marcado abaulamento vestibular do 3.° e 4.° quadrantes. A ortopantomografia revelou 5 lesões hipertransparentes, 4 na mandíbula e uma na maxila. Pela suspeita de síndrome de Gorlin‐Goltz foram também pedidas radiografias do crânio, tórax e extralongo da coluna, reforçando a suspeita diagnóstica inicial, pela presença de calcificação da foice cerebral, costelas aplanadas e bífidas e múltiplas alterações vertebrais. Tendo em conta a idade, a dimensão das lesões e a probabilidade de recidiva, optou‐se por uma abordagem conservadora inicial, pela descompressão pré‐cirúrgica das lesões com tubos acrílicos, para posterior enucleação. Discussão e conclusões: A suspeita desta síndrome deve desencadear uma avaliação sistémica que permita o diagnóstico precoce e um seguimento apropriado, de modo a reduzir a morbilidade e a mortalidade associadas às lesões potencialmente malignas. Desconhece‐se a prevalência real desta síndrome em Portugal, não deixando de ser curioso que alguns dos doentes diagnosticados nesta unidade sejam oriundos do arquipélago dos Açores, sugerindo um possível cluster genético.info:eu-repo/semantics/publishedVersio

Geo-environmental mapping using physiographic analysis: constraints on the evaluation of land instability and groundwater pollution hazards in the Metropolitan District of Campinas, Brazil

Geo-environmental terrain assessments and territorial zoning are useful tools for the formulation and implementation of environmental management instruments (including policy-making, planning, and enforcement of statutory regulations). They usually involve a set of procedures and techniques for delimitation, characterisation and classification of terrain units. However, terrain assessments and zoning exercises are often costly and time-consuming, particularly when encompassing large areas, which in many cases prevent local agencies in developing countries from properly benefiting from such assessments. In the present paper, a low-cost technique based on the analysis of texture of satellite imagery was used for delimitation of terrain units. The delimited units were further analysed in two test areas situated in Southeast Brazil to provide estimates of land instability and the vulnerability of groundwater to pollution hazards. The implementation incorporated procedures for inferring the influences and potential implications of tectonic fractures and other discontinuities on ground behaviour and local groundwater flow. Terrain attributes such as degree of fracturing, bedrock lithology and weathered materials were explored as indicators of ground properties. The paper also discusses constraints on- and limitations of- the approaches taken

Environmental cold exposure increases blood flow and affects pain sensitivity in the knee joints of CFA-induced arthritic mice in a TRPA1-dependent manner

BACKGROUND: The effect of cold temperature on arthritis symptoms is unclear. The aim of this study was to investigate how environmental cold affects pain and blood flow in mono-arthritic mice, and examine a role for transient receptor potential ankyrin 1 (TRPA1), a ligand-gated cation channel that can act as a cold sensor. METHODS: Mono-arthritis was induced by unilateral intra-articular injection of complete Freund’s adjuvant (CFA) in CD1 mice, and in mice either lacking TRPA1 (TRPA1 KO) or respective wildtypes (WT). Two weeks later, nociception and joint blood flow were measured following exposure to 10 °C (1 h) or room temperature (RT). Primary mechanical hyperalgesia in the knee was measured by pressure application apparatus; secondary mechanical hyperalgesia by automated von Frey system; thermal hyperalgesia by Hargreaves technique, and weight bearing by the incapacitance test. Joint blood flow was recorded by full-field laser perfusion imager (FLPI) and using clearance of (99m)Technetium. Blood flow was assessed after pretreatment with antagonists of either TRPA1 (HC-030031), substance P neurokinin 1 (NK(1)) receptors (SR140333) or calcitonin gene-related peptide (CGRP) (CGRP(8–37)). TRPA1, TAC-1 and CGRP mRNA levels were examined in dorsal root ganglia, synovial membrane and patellar cartilage samples. RESULTS: Cold exposure caused bilateral primary mechanical hyperalgesia 2 weeks after CFA injection, in a TRPA1-dependent manner. In animals maintained at RT, clearance techniques and FLPI showed that CFA-treated joints exhibited lower blood flow than saline-treated joints. In cold-exposed animals, this reduction in blood flow disappears, and increased blood flow in the CFA-treated joint is observed using FLPI. Cold-induced increased blood flow in CFA-treated joints was blocked by HC-030031 and not observed in TRPA1 KOs. Cold exposure increased TRPA1 mRNA levels in patellar cartilage, whilst reducing it in synovial membranes from CFA-treated joints. CONCLUSIONS: We provide evidence that environmental cold exposure enhances pain and increases blood flow in a mono-arthritis model. These changes are dependent on TRPA1. Thus, TRPA1 may act locally within the joint to influence blood flow via sensory nerves, in addition to its established nociceptive actions

Modelling sustainable intensification in Brazilian agriculture

At the United Nations Framework Conference on Climate Change COP15 (2009) Brazil presented ambitious commitments or Nationally Appropriate Mitigation Actions (NAMAs), to reduce greenhouse gases emissions (GHGs) mitigation by 2020. At COP21 (2015), the country presented new commitments and a framework to achieve further mitigation targets by 2030 as so-called Intended Nationally Determined Contributions (INDCs). Both NAMAs and INDCs focus on the land use change and agricultural sectors, but the INDCs include a commitment of zero illegal deforestation in the Amazon by 2030. This research focuses on the contribution of the livestock sector to reducing GHGs through the adoption of sustainable intensification measures. A detailed linear programming model, called Economic Analysis of Greenhouse Gases for Livestock Emissions (EAGGLE), of beef production was developed to evaluate environmental trade-offs. The modelling encompasses pasture degradation and recovery processes, animal and deforestation emissions, soil organic carbon dynamics and upstream life-cycle inventory. The model was parameterized for the Brazilian Cerrado, Amazon and Atlantic Forest biomes and further developed for farm-scale and regional-scale analysis. Different versions of the EAGGLE model was used to: (i) Evaluate the GHG mitigation potential and economic benefit of optimizing pasture management through the partitioning of initially uniform pasture area; (ii) to define abatement potential and cost-effectiveness of key mitigation measures applicable to the Brazilian Cerrado; (ii) to demonstrate the extent of cost-effective mitigation that can be delivered by the livestock sector as part of INDCs, and to show a result that underpins the national INDC target of zero deforestation; and (iv) to evaluate the consequences of reducing (or increasing) beef production on GHGs in the Cerrado. Counter-intuitively, a sensitivity analysis shows that reducing beef consumption could lead to higher GHG emissions, while increasing production could reduce total GHGs if livestock is decoupled from deforestation

Valorization, comparison and characterization of coconuts waste and cactus in a biorefinery context using NaClO2-C2H4O2 and sequential NaClO2-C2H4O2/autohydrolysis pretreatment

The search for new sources of lignocellulosic raw materials for the generation of energy and new compounds encourages the search for locations not well known and with a high potential for biomass availability as is the case of the Northeast Region of Brazil. Thus, the cactus (CAC), green coconut shell (GCS), mature coconut fibre and mature coconut shell were pretreated by NaClO2C2H4O2 and sequential NaClO2C2H4O2/autohydrolysis aiming at the obtention of high added-value compounds in the liquid fraction and solid phase. The yield of the solid phase was between 61.42 and 90.97% and the reduction up to 91.63% of lignin in the materials pretreated by NaClO2C2H4O2. After NaClO2C2H4O2/autohydrolysis pretreatment the obtained solids yield was between 43.57 and 52.08%, with a solubilization of the hemicellulose content up to 81.42%. For both pretreatments the cellulosic content remained almost unchanged. The pretreated solids were characterized by SEM, X-ray and crystallinity indexes showing significant modifications when submitted to pretreatments. These results were further confirmed by the enzymatic conversion yields of 81.6890.03 and 86.9790.36% of the LCMs pretreated by NaClO2C2H4O2 and pretreated by NaClO2C2H4O2/autohydrolysis, respectively. The resulting liquors had a total phenolic compounds content between 0.20 and 3.05 g/L, lignin recovered up to 7.40 g/L (absence of sulphur) and xylooligosaccharides between 16.13 and 20.37 g/L. Thus, these pretreatments showed an efficient fractionation of LCMs, especially in the GCS, being an important requirement for the generation of products and byproducts in the context of the biorefinery.The authors gratefully acknowledge the Brazilian research funding agencies CNPq and CAPES for financial support. Financial support from the Energy Sustainability Fund 2014-05 (CONACYT-SENER), Mexican Centre for Innovation in Bioenergy (CemieBio), Cluster of Bioalcohols (Ref. 249564) is gratefully acknowledged. We also gratefully acknowledge support for this research by the Mexican Science and Technology Council (CONACYT, Mexico) for the infrastructure project - INFR201601 (Ref. 269461) and CB-2015-01 (Ref. 254808).info:eu-repo/semantics/publishedVersio

Impact of sports participation on incidence of bone traumatic fractures and health care costs among adolescents: ABCD – Growth Study

This is the author accepted manuscript. The final version is available from Taylor & Francis.Objective: To analyze the risk of bone traumatic fractures according to the engagement in sports, as well as to identify the potential impact of sports participation and traumatic fractures on health care costs among adolescents. Methods: This is a longitudinal 12-months follow-up study of 285 adolescents of both sexes in Brazil. We assessed the occurrence of traumatic fractures and health care services (hospitalizations, medicine use, medical consultations and exams) by phone contact every single month for 12 months. Adolescents were divided into four groups according to sport characteristics: non-sport (n= 104), non-impact sport (swimming [n= 34]), martial arts (n= 49 [judo, karate, kung-Fu]) and impact sports (n= 98 [track-and-field, basketball, gymnastics, tennis, and baseball]). Results: The incidence of new fractures was 2.1%. The overall costs accounted during the 12-month follow-up were U$3,259.66. Swimmers (US$ 13.86) had higher health care costs than non-sport (US$1.82), martial arts (US$ 2.23) and impact sports (US$ 2.32). Conclusion: swimming seems to be related to higher health care costs among adolescents

Análise comparativa da função respiratória de indivíduos hígidos em solo e na água

A mensuração da função respiratória oferece informações essenciais para caracterizar anormalidades pulmonares. A pressão hidrostática da água atua no tórax submerso de diversas formas, causando alterações no sistema respiratório. O objetivo deste estudo foi analisar comparativamente variáveis que avaliam a função respiratória - volume minuto (Vmin), volume corrente (Vc), capacidade vital (Cvital) e frequência respiratória (FR) - de voluntárias no solo e com o tórax submerso em piscina terapêutica aquecida. A função respiratória de 30 voluntárias saudáveis (20,9±2,1 anos; 1,64±0,07 m; 58,8±9,2 kg; índice de massa corporal 21,78±2,63 kg/m²) foi avaliada por meio de ventilômetro em solo e aos 1 e 20 minutos de imersão, com água ao nível dos ombros, em posição sentada. Após 20 minutos de imersão, foi registrado aumento estatisticamente significativo no Vmin (p=0,015) e Vc (p=0,027); e uma redução estatisticamente significativa (p=0,016) na Cvital 1 minuto após imersão, em relação aos valores obtidos em solo. O maior tempo de imersão alterou assim os valores obtidos em solo, com exceção da Cvital, que sofreu alteração significativa desde o primeiro minuto de imersão. Não foram encontradas diferenças significativas entre os valores obtidos após 1 e 20 minutos na água. O estudo permite concluir que a imersão do tórax em piscina aquecida provocou aumento no Vmin e Vc e diminuição na Cvital de voluntárias saudáveis.Measuring respiratory function provides essential information to assess pulmonary changes. Effects of water hydrostatic pressure on the submerged chest cause changes in the respiratory system. The purpose here was to compare respiratory function variables - minute volume (MV), tidal volume (TV), vital capacity (Vitalc), and respiratory rate (RR) - on the ground and with chest submerged in water. Respiratory function of 30 healthy female volunteers (mean age 20.93 ± 2.11; weight 58.8±9.2 kg; body mass index 21.78±2.63 kg/m²) was assessed by spirometry on the ground, and 1 and 20 minutes after immersion in warm water at shoulder level in the sitting position. As compared to ground levels, statistically significant increases were found in MV (p=0.015) and TV (p=0.027) 20 minutes after immersion, as well as a significant decrease (p=0.016) in Vitalc one minute after immersion. Longer time immersion has thus altered values obtained on ground, except for Vitalc, which showed significant reduction on the first minute after chest immersion. Comparison between variable values obtained 1 and 20 minutes in water showed no significant difference. It may thus be said that chest submersion in warm water caused an increase in MV and VT and a decrease in Vitalc of healthy subjects