Retardo de desenvolvimento associado à Osteopetrose

Osteopetrosis is a rare genetic disease, caracterized by marked radiodensity of the bones throughout the skeleton. Heterogenous clinical, biochemical, and histological features suggest that the disease is multigenic. We will describe a case with severe growth delay and bone fractures. EDO, 19 years and 9 months old, that came to us due to a skeleton alteration and growth failure. His puberty begun at 18 years old, with slow progress. Six months ago, after falling from his own high he broke his right forearm. He was 141,5 em high and weighted 38,5 kg, with bone age at 13 years and 6 months. The skeleton examination showed hyperdensity of the bones with typical alteration observed in osteopetrosis with signs of fractures in ulna and femur both on the right. The bone density were on lumbar spine and femural neck respectively 10,65 and 15,55 SD higher than the average for his own age. The dosages of the hormones showed total testosterone levels below normal for chronological age (245 ng/dl); normal basal and stimulated gonadotropins levels, GH responsive to hypoglycemia and insulin-like growth factor-I (IGF-I) level low for puberal stage. The plasma calcium (Ca), phosphorus (P), alcaline phosphatase (FA) and intact parathormone (PTH) levels were on the normal range. The incidence of osteopetrosis in our country Is very low and its association with short stature and delayed puberty is well known. The dysplasic bone associated to chronic anemia and repeated infections present mainly in the severe forms of the disease are probably the major causes for the delayed development.A osteopetrose é uma doença genética rara, com variação na sua expressividade e no seu modo de herança e que caracteriza-se, básicamente, pela esclerose óssea generalizada resultado de um desequilibrio entre formação e reabsorçâo ósseas. Descreveremos um caso desta doença em que um retardo de desenvolvimento associado a fraturas ósseas iniciaram a investigação. E.D.C., 19 anos e 9 meses, foi encaminhado ao serviço médico por alteração esquelética e baixa estatura. Iniciou aumento de volume testicular e pilificaçâo pubiana aos 18 anos, com progressão lenta da puberdade. Há 6 meses apresentou fratura de antebraço após queda da própria altura. Ao exame físico apresentava estatura de 141,5 cm; peso 38,5 kg; estadiamento puberal em GIII PII com idade óssea de 13 anos e 6 meses. O exame radiológico do esqueleto apresentou uma hiperdensidade óssea com alterações típicas de osteopetrose , com sinais de fratura em ulna e colo de fémur, ambos à direita. A densitometria óssea encontrava-se 10,65 e 15,55 desvios-padrão acima da média para sua idade em coluna lombar e fêmur respectivamente. As dosagens hormonais revelaram níveis reduzidos de testosterona total para a idade cronológica (245 ng/dl) com gonadotrofinas basais normais; hormônio de crescimento (GH) responsivo à hipoglicemia e níveis de fator de crescimento semelhante a insulina-l (IGF-I) diminuídos para o estádio puberal. Os níveis de cálcio (Ca), fósforo (P), atividade de fosfatase alcalina (FA) e paratormônio intacto (PTH) plasmáticos estavam dentro da normalidade. A incidência de osteopetrose em nosso meio é bastante rara, e sua associação com baixa estatura e retardo puberal é conhecida, sendo provavelmente de origem multifatorial, afetando mais intensamente as formas graves da doença, onde a anemia crônica e infecções de repetição estão presentes. As alterações displásicas do tecido ósseo e das cartilagens de crescimento inerentes a osteopetrose certamente desempenham um papel importante na baixa estatura.Universidade Federal de São Paulo (UNIFESP) Faculdade de Medicina de Pouso AlegreUNIFESP, Faculdade de Medicina de Pouso AlegreSciEL

Spatial analysis of caries experience in population of teens, adults, and elderly people in the state of São Paulo : data from SB SP 2015

Estimate the prevalence and gravity of coronal dental caries for populations of adolescents, adults and elderly people. For the crossing of data of the average DMF rates by Regional Health Directorate (RHD) with the digital cartographical base, municipals were grouped by RHD, and the connection between the two bases was formed by a common code or "primary key" in the TerraView® software program (version 4.2.1). The distribution of the DMF average for the teen population was the worst for RHD 8, while RHDs 4, 7 and 14 had lower averages. For the adult population, RHDs 4 and 12 presented the lowest DMF averages. On the other hand, RHDs 8, 13, and 16 had the worst results. For the elderly population, the RHD 4 presented the lowest average, and RHD 9 the highest DMF rate for this population. The differences in DMF averages among the RHDs and the populations studied showed that it is necessary to plan different locoregional oral health actions to face the severe clinical state exposed, since its spatial distribution is disparate, with concentrations of cases in certain regions for all age groups studied3311621CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP0966/1514/50109-

Thermal suspectability analysis of the reuse of fly ash from cellulose industry as contribution filler in bituminous mixtures

The increased population has accelerated pavement deterioration of and boosted production of residues, generating a constant environmental problem. One of the main problems of pavements is a failure to develop union between bituminous mastic ligand and aggregate. The following study evaluates the use of ash from cellulose incineration as a contribution filler to improve thermal susceptibility of pavements in different climatic zones. The applied methodology for dosage was based on volumetric criteria and state curves. The obtained results showed that reusing this residue in determined conditions (Cv/Cs???1) offers lower wear loss to 35% of temperatures between ?10 and 60?°C, due to the Cv/Cs?=?0.75 ratio that maximizes the cohesive properties of the mixture. Therefore, we showed that this type of industry residue can be reused without complication in zones of certain climatic criteria and that it provides improved properties to the asphalt mix compared to conventional mixes

Effect of copper slag addition on mechanical behaviour of asphalt mixes containing reclaimed asphalt pavement

Annually, copper production and refining processes of generate large volumes of copper slag, and the disposal of this waste remains a major economic and environmental problem. This annual production causes an increase in the number and volume of landfills, as well as the quantity of slag that backs up landfills, it also produces leachates which contain metals such as Cu, Pb, Hg and SO2. In this research, friction and cohesive qualities of copper slag are exploited, in order to incorporate this slag as aggregate in asphalt mixes containing Reclaimed Asphalt Pavement (RAP). Results demonstrate that the use of copper slag in an addition percentage of 35% is favorable, because flow values increase and stability values decrease. The Marshall Quotient is reduced up to 27%, improving the performance of mixes with RAP and obtaining behavior similar to a traditional mixture. This improvement is also reflected in an 8% increase in the indirect tensile strength, which stands the use of copper slag as a solution in RAP applications with more demanding tensile and fatigue requirements.The presented results are part of the FONDECYT Initiation into Research project No. 11140889, funded by CONICYT-Chile, and the DID S-2014-27 project, funded by the Universidad Austral de Chile. The authors also would like to thank Bitumix S.A. and its CDI, CONAV S.A. and the Regional Laboratory of Transportation of Puerto Montt for the material donations and facilitation of their dependencie

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia

Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C>G,-12 (15%). In the SW form, the most frequent mutation was IVS2,A/C>G,-12 (38%), in the SV form it was I172N (53%), and in the NC form it was V281L (57.7%). We observed a good correlation between genotype and phenotype. Discordance between genotype and phenotype was found in one SV patient with a mild mutation in one of the alleles (R356W/V281L). However, we cannot rule out the presence of an additional mutation in these alleles. We also observed a good correlation of genotype with 17alpha-hydroxyprogesterone, testosterone, and androstenedione levels. The severity of external genitalia virilization correlated with the severity of mutation. In conclusion, the frequencies described in the present study did not differ from worldwide studies, including the Brazilian population. The few differences observed may reflect individual sample variations. This new Brazilian cohort study suggests the presence of new mutations in Brazilian patients with different forms of CAH-21OH.1311131

A utilização do ARCGIS no projecto Greenurbe: mapeamento climático

O Projecto GreenUrbe (PPCDT/AMB/59174/2004) visa avaliar o impacte dos espaços verdes na qualidade do ambiente urbano (ar, ruído e confortotérmico) e no bem-estar social, de modo a formular recomendações relativas ao desenho urbano. Este estudo, com início em Outubro de 2005, está a decorrer num contexto espacial particular – a cidade de Bragança. Na avaliação das principais vertentes deste projecto, o software ArcGIS assume um papel de relevo na análise e posterior representação espacial dos parâmetros ambientais, permitindo ainda estabelecer as suas relações com o uso do solo existente. No estudo de escala urbana, o software ArcGIS é usado intensivamente no mapeamento climático urbano, elemento essencial na compreensão das condições que influenciam o microclima em espaços urbanos.FCT-MCE

Use of plastic scrap in asphalt mixtures added by dry method as a partial substitute for bitumen

In recent decades, the generation of plastic waste has increased substantially worldwide, with the result that more of such waste is introduced into the environment. Currently, most polymers (polyethylene terephthalate, polyethylene, polyvinyl chloride, and others) are recycled. However, some are rejected for recycling in the primary separation processes due to their physical condition, contamination, or size. These materials are called plastic scrap. In this research, the use of plastic scrap added by dry method was evaluated as a replacement for bitumen in asphalt mixtures. Two sizes of plastic scrap, coarse and fine, were considered. An AC16S semi-dense mixture was designed for this purpose, with a 10% reduction in binder, and 10% and 20% of plastic scrap binder was added in coarse and fine sizes. The results obtained in the Marshall stability and flow test showed reduced moisture damage, greater indirect tensile strength, higher air void content, and a 2% decrease in the conserved tensile strength ratio while the same usage field as the conventional mixture was maintained. Meanwhile, significant decreases in plastic deformations, as compared to traditional values, were obtained from resilient modulus and rutting tests

Entropy bounds, monotonicity properties and scaling in CFTs

We study the ratio of the entropy to the total energy in conformal field theories at finite temperature. For the free field realizations of {\cal N}=4 super Yang-Mills theory in D=4 and the (2,0) tensor multiplet in D=6, the ratio is bounded from above. The corresponding bounds are less stringent than the recently proposed Verlinde bound. We show that entropy bounds arise generically in CFTs in connection to monotonicity properties with respect to temperature changes of a generalized C-function. For strongly coupled CFTs with AdS duals, we show that the ratio obeys the Verlinde bound even in the presence of rotation. For such CFTs, we point out an intriguing resemblance in their thermodynamic formulas with the corresponding ones of two-dimensional CFTs. We show that simple scaling forms for the free energy and entropy of CFTs with AdS duals reproduce the thermodynamical properties of (D+1)-dimensional AdS black holes.Comment: 19p, LaTeX, v2 minor clarifications and added references, v3 version to appear in NP