Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

Decoherence-free evolution of time-dependent superposition states of two-level systems and thermal effects

In this paper we detail some results advanced in a recent letter [Prado et al., Phys. Rev. Lett. 102, 073008 (2009).] showing how to engineer reservoirs for two-level systems at absolute zero by means of a time-dependent master equation leading to a nonstationary superposition equilibrium state. We also present a general recipe showing how to build nonadiabatic coherent evolutions of a fermionic system interacting with a bosonic mode and investigate the influence of thermal reservoirs at finite temperature on the fidelity of the protected superposition state. Our analytical results are supported by numerical analysis of the full Hamiltonian model.

Proposal of a High-Level Language for Writing Self Modifying Programs

This paper proposes a simple high-level programming language, endowed with resources that help encoding self-modifying programs. With this purpose, a conventional imperative language syntax (not explicitly stated in this paper) is incremented with special commands and statements forming an adaptive layer specially designed with focus on the dynamical changes to be applied to the code at run-time. The resulting language allows programmers to easily specify dynamic changes to their own program`s code. Such a language succeeds to allow programmers to effortless describe the dynamic logic of their adaptive applications. In this paper, we describe the most important aspects of the design and implementation of such a language. A small example is finally presented for illustration purposes.

An estimate of biometric parameters in eucalyptus clone plantations in Southern Bahia: an application of the airborne laser scanning (ALS) technology

The application of airborne laser scanning (ALS) technologies in forest inventories has shown great potential to improve the efficiency of forest planning activities. Precise estimates, fast assessment and relatively low complexity can explain the good results in terms of efficiency. The evolution of GPS and inertial measurement technologies, as well as the observed lower assessment costs when these technologies are applied to large scale studies, can explain the increasing dissemination of ALS technologies. The observed good quality of results can be expressed by estimates of volumes and basal area with estimated error below the level of 8.4%, depending on the size of sampled area, the quantity of laser pulses per square meter and the number of control plots. This paper analyzes the potential of an ALS assessment to produce certain forest inventory statistics in plantations of cloned Eucalyptus spp with precision equal of superior to conventional methods. The statistics of interest in this case were: volume, basal area, mean height and dominant trees mean height. The ALS flight for data assessment covered two strips of approximately 2 by 20 Km, in which clouds of points were sampled in circular plots with a radius of 13 m. Plots were sampled in different parts of the strips to cover different stand ages. The clouds of points generated by the ALS assessment: overall height mean, standard error, five percentiles (height under which we can find 10%, 30%, 50%,70% and 90% of the ALS points above ground level in the cloud), and density of points above ground level in each percentile were calculated. The ALS statistics were used in regression models to estimate mean diameter, mean height, mean height of dominant trees, basal area and volume. Conventional forest inventory sample plots provided real data. For volume, an exploratory assessment involving different combinations of ALS statistics allowed for the definition of the most promising relationships and fitting tests based on well known forest biometric models. The models based on ALS statistics that produced the best results involved: the 30% percentile to estimate mean diameter (R(2)=0,88 and MQE%=0,0004); the 10% and 90% percentiles to estimate mean height (R(2)=0,94 and MQE%=0,0003); the 90% percentile to estimate dominant height (R(2)=0,96 and MQE%=0,0003); the 10% percentile and mean height of ALS points to estimate basal area (R(2)=0,92 and MQE%=0,0016); and, to estimate volume, age and the 30% and 90% percentiles (R(2)=0,95 MQE%=0,002). Among the tested forest biometric models, the best fits were provided by the modified Schumacher using age and the 90% percentile, modified Clutter using age, mean height of ALS points and the 70% percentile, and modified Buckman using age, mean height of ALS points and the 10% percentile.

Survey of Listeria spp. in matched clinical, food and refrigerator samples at home level in Brazil

Listeria monocytogenes is a bacterial pathogen that represents a serious threat during pregnancy and several cases of listeriosis have been linked to the consumption of contaminated foods worldwide. In Brazil, there is no report of foodborne listeriosis, despite some sporadic cases of infection by this bacterium occur. In general in our country, there is no awareness of medical personnel to instruct moms-to-be to avoid high risk foods. In the present study, a total of 141 samples were surveyed for the presence of Listeria spp., including cervicovaginal samples of patients, foods and home refrigerators. No clinical sample was positive for Listeria spp., but it was isolated from two refrigerators. L. monocytogenes was detected in two food samples out of five positive ones for Listeria spp. In conclusion, it was shown the presence of contaminated food items at home level and the lack of information on the risks of listeriosis, indicating the need of implementation of food safety education programs. (C) 2007 Elsevier Ltd. All rights reserved.

ICT AND PRODUCTIVITY IN DEVELOPING COUNTRIES: NEW FIRM-LEVEL EVIDENCE FROM BRAZIL AND INDIA

This paper uses a unique new data set on manufacturing firms in Brazil and India to estimate production functions, augmented by information and communications technology (ICT). We find a strong positive association between ICT capital and productivity in both countries that is robust to several different specification tests. The paper also breaks new ground when using the Indian data to investigate the effect of the institutional and policy environment on ICT capital investment and productivity. We find that poorer infrastructure quality and labor market policy are associated with lower levels of ICT adoption, while poorer infrastructure is also associated with lower returns to investment.

As patentes nas universidades: análise dos depósitos das universidades públicas paulistas (1995-2006)

Este artigo analisou os depósitos das universidades públicas paulistas no Instituto Nacional de Propriedade Industrial (Inpi) no período de 1995-2006, perfazendo 672 registros. Foram consideradas as seguintes: Universidade Estadual de Campinas, Universidade de São Paulo, Universidade Estadual Paulista, Universidade Federal de São Carlos e Universidade Federal de São Paulo. Com os resultados obtidos verificou-se um avanço, mesmo que instável, do número de depósitos de patentes advindas das universidades e o adiantamento da Unicamp em relação às demais na quantidade de patentes depositadas, responsável por 60% do total de registros. Como conclusão vale destacar que o fortalecimento das políticas internas das universidades relacionadas à propriedade industrial acarretará maior índice de proteção das invenções acadêmicas, garantindo os direitos sobre a invenção, incentivando a realização de novas pesquisas e, através de mecanismos efetivos, viabilizando a transferência da tecnologia produzida nas universidades para o setor produtivo.

Composition, functional properties and sensory characteristics of Mozzarella cheese manufactured from different somatic cell counts in milk

In the present study, composition, functional properties and sensory characteristics of Mozzarella cheese produced from milk with somatic cell counts (SCC) at low (<200,000 cells/mL), intermediate (≈400,000 cells/mL) and high (>800,000 cells/mL) levels were investigated. Three batches of cheese were produced for each SCC category. The cheeses were vacuum packed in plastic bags and analysed after 2, 9, 16, 23 and 30 days of storage at 4ºC. SCC level did not affect the moisture, fat, total protein and ash content, mesophilic and psychrotrophic bacteria, and sensory parameters of Mozzarella cheese. However, meltability increased in cheese manufactured from high SCC milk. Results indicated that raw milk used to produce Mozzarella cheese should not contain high SCC (>800,000 cells/mL) in order to avoid changes in the functional properties of the Mozzarella cheese.

Elaboration of sausage using minced fish of Nile tilapia filleting waste

The objective of this study was to evaluate the inclusion of minced fish (MF) (0, 20, 40, 60, 80 and 100%), obtained from Nile tilapia filleting waste, in sausage and determine their physicochemical, nutritional and sensory properties. The sausages showed a decrease in protein and increase in fat content with increasing inclusion of MF. The nutritional quality of the products was high, with digestibility over 85%. The parameters of texture instrumental and yellow color (b*) decreased with the increasing inclusion of MF. The sensory evaluation of the color showed that the maximum level of inclusion of MF was not well accepted by the panelists. The sausage with the best acceptance for the flavor attribute was those with 60% of MF. The results showed good nutritional quality of sausages utilizing MF of Nile tilapia filleting waste and according to the sensory evaluation, the maximum level of inclusion should not exceed 60%.

Changes in ruminal fermentation and mineral serum level in animals kept in high temperature environments

In order to evaluate the effect of environmental temperature on ruminal fermentation and on mineral levels of growing ruminants, it was used 12 male calves (initial average weight 82.9 ± 7.7 kg, 100 days of age), were employed in a randomized block design (by weight) experiment, with repeated weight measurement and two environmental temperatures: thermoneutral (24ºC) and heat-stressed (33ºC), during 38 days. The animals exposed to 33ºC presented lower dry matter ingestion, lower T3 (triiodothyronine) serum level, higher ammoniacal nitrogen (NH3-N) level in the rumen liquid, and higher rectal and body temperatures during all the experimental period when compared to the animals kept in thermoneutral environment (24ºC). The animals kept under heat stress environment (33ºC) presented higher calcium serum level, which was the highest on 31st day and the lowest on the 38th day of the experiment; phosphorus level was the lowest during all the experimental period; sodium level was lower on the 17th, 31st and 38th experimental days. Potassium and zinc levels were lower after 24 days; copper level was lower until the 24th day; magnesium level was higher until the 17th day, if compared to the ones from the animals kept in thermoneutral environment (24ºC). The heat-stressed animals presented higher levels of ammoniacal nitrogen in the ruminal liquid and a decrease in the phosphorus, sodium, potassium and zinc serum levels. These results show the necessity of changes on feed management to ruminants in temperatures over the thermal comfort limits so that performance loss is decreased.

Áreas de vulnerabilidade para co-infecção HIV-aids/TB em Ribeirão Preto, SP

OBJETIVO: Identificar áreas de vulnerabilidade para os casos novos de co-infecção HIV/tuberculose (TB). MÉTODOS: Estudo descritivo ecológico realizado por meio do georreferenciamento dos casos novos de HIV/TB notificados em Ribeirão Preto, SP, em 2006. Os dados foram obtidos do sistema de informação estadual paulista de notificação de TB. Os casos novos de co-infecção HIV/TB foram analisados conforme características sociodemográficas e clínicas e, posteriormente, georreferenciados na base cartográfica do município segundo endereço residencial. Os setores do município foram categorizados em três níveis socioeconômicos: inferior, intermediário e superior, com base na análise de componentes principais das variáveis do censo demográfico de 2000 (renda, instrução e percentagem de domicílios com cinco ou mais moradores). Foi calculada a incidência da co-infecção HIV/TB para cada nível socioeconômico. RESULTADOS: A co-infecção HIV/TB acometeu mais adultos do sexo masculino em idade economicamente ativa e a forma pulmonar da TB foi a mais comum. A distribuição espacial mostrou que as incidências nas áreas com níveis socioeconômicos intermediários e inferiores (8,3 e 11,5 casos por 100 mil habitantes, respectivamente) foram superiores àquela (4,8 casos por 100 mil habitantes) de nível socioeconômico superior. CONCLUSÕES: A taxa de incidência de co-infecção HIV/TB analisada por níveis socioeconômicos mostrou padraÞo espacial de distribuiçaÞo não homogêneo e apresentou valores mais altos em áreas de maior vulnerabilidade social. O estudo diagnosticou aìreas geograìficas prioritaìrias para o controle da co-infecção e a tecnologia do sistema de informação geográfica pode ser empregada no planejamento das ações em saúde pelos gestores municipais.

Neurotoxicity and aggressiveness triggered by low-level lead in children: a review

Lead-induced neurotoxicity acquired by low-level long-term exposure has special relevance for children. A plethora of recent reports has demonstrated a direct link between low-level lead exposure and deficits in the neurobehavioral-cognitive performance manifested from childhood through adolescence. In many studies, aggressiveness and delinquency have also been suggested as symptoms of lead poisoning. Several environmental, occupational and domestic sources of contaminant lead and consequent health risks are largely identified and understood, but the occurrences of lead poisoning remain numerous. There is an urgent need for public health policies to prevent lead poisoning so as to reduce individual and societal damages and losses. In this paper we describe unsuspected sources of contaminant lead, discuss the economic losses and urban violence possibly associated with lead contamination and review the molecular basis of lead-induced neurotoxicity, emphasizing its effects on the social behavior, delinquency and IQ of children and adolescents

Stress at work among electric utility workers

In the last decades there was an increase in stress at work and its effects on workers' health. These issues are still little studied in the electric utility sector. This study aims to evaluate factors associated with stress at work and to verify its associations with health status among workers of an electric company in São Paulo State, Brazil. A cross-sectional study was conducted with 474 subjects (87.5% of the eligible workers). Data were collected using self-reported questionnaires. A descriptive analysis, a multiple linear hierarchical regression analysis and a correlation analysis were performed. The majority of participants were males (91.1%) and the mean age was 37.5 yr. The mean score of stress level was 2.3 points (scale ranging from 1.0 to 5.0). Hierarchical multiple analyses showed that: regular practice of physical activities (p=0.025) and individual monthly income (p=0.002) were inversely associated with stress level; BMI was marginally associated with the stress level (p=0.074). The demographic characteristics were not associated with stress. Stress at work was significantly associated with physical and mental health status (p<0.001). To improve health of electric utility workers, actions are suggested to decrease stress by remuneration and an appropriate practice of physical activity aiming reduction of BMI

Practice of walking and its association with perceived environment among elderly Brazilians living in a region of low socioeconomic level

Background: The aim of this study was analyze associations between the practice of walking and environmental perception among elderly Brazilians in a region of low socioeconomic level. Methods: A cross-sectional study was conducted among 385 elderly people aged 60 years and over. To evaluate walking, the International Physical Activity Questionnaire (IPAQ), long version (leisure and transport modules) was used. The environment was evaluated by means of the Neighborhood Environmental Walkability Scale (NEWS) (adapted Brazilian version). For the statistical analysis, multiple logistic regression models were created separately for men and women. The practice of at least 150 minutes a week of walking was the dependent variable, and the variables of environmental perception were the independent variables. All the models were controlled for schooling level and age. Results: The proportion of elderly people active in walking was 56.9% for the men and 26.4% for the women. The perception of the presence of soccer fields (OR = 4.12) and their proximity, within ten minutes' walk from home (OR = 3.43), were associated with the practice of walking among the men. The perception of the presence of public squares (OR = 4.70) and the proximity of primary healthcare units, within ten minutes' walk from home (OR = 3.71), were associated with the practice of walking among the women. An association with adequate perception of vehicle traffic remained at the threshold of significance for the women. Conclusion: Accessibility of leisure structures such as football fields and public squares and of health services such as primary healthcare units were important environmental variables associated with the practice of walking among elderly people living in a region of low socioeconomic level in Brazil. These variables need to be taken into consideration when aiming to promote the practice of walking among elderly people living in similar regions.

Modulatory effect of Byrsonima basiloba extracts on the mutagenicity of certain direct and indirect-acting mutagens in Salmonella typhimurium assays

Byrsonima basiloba A. Juss. species is a native arboreal type from the Brazilian ""cerrado"" (tropical American savanna), and the local population uses it to treat diseases, such as diarrhea and gastric ulcer. It belongs to the Malpighiaceae family, and it is commonly known as ""murici."" Considering the popular use of B. basiloba derivatives and the lack of pharmacological potential studies regarding this vegetal species, the mutagenic and antimutagenic effect of methanol (MeOH) and chloroform extracts were evaluated by the Ames test, using strains TA97a, TA98, TA100, and TA102 of Salmonella typhimurium. No mutagenic activity was observed in any of the extracts. To evaluate the antimutagenic potential, direct and indirect mutagenic agents were used: 4 nitro-o-phenylenediamine, sodium azide, mitomycin C, aflatoxin B(1), benzo[a] pyrene, and hydrogen peroxide. Both the extracts evaluated showed antimutagenic activity, but the highest value of inhibition level (89%) was obtained with the MeOH extract and strain TA100 in the presence of aflatoxin B(1). Phytochemical analysis of the extracts revealed the presence of n-alkanes, lupeol, ursolic and oleanolic acid, (+)-catechin, quercetin- 3-O-alpha-L-arabinopyranoside, gallic acid, methyl gallate, amentoflavone, quercetin, quercetin-3-O-(2 ''-O-galloyl)-beta-D-galactopyranoside, and quercetin-3-O-(2 ''-O-galloyl)-alpha-L-arabinopyranoside.