A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0

Background: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in the gene which encodes hepatic glycogen synthase, resulting in reduction of glycogen storage in the liver. Case Presentation: Biochemical evaluation as well as direct sequencing of exons and exon-intron boundary regions of the GYS2 gene were performed in a patient presenting fasting hypoglycemia and postprandial hyperglycemia and her parents. The patient was found to be compound heterozygous for one previously reported nonsense mutation (c. 736 C>T; R243X) and a novel frameshift mutation (966_967delGA/insC) which introduces a stop codon 21 aminoacids downstream from the site of the mutation that presumably leads to loss of 51% of the COOH-terminal part of the protein. The glycemia and lactatemia of the parents after an oral glucose tolerance test were evaluated to investigate a possible impact of the carrier status on the metabolic profile. The mother, who presented a positive family history of type 2 diabetes, was classified as glucose intolerant and the father, who did not exhibit metabolic changes after the glucose overload, had an antecedent history of hypoglycemia after moderate alcohol ingestion. Conclusion: The current results expand the spectrum of known mutations in GYS2 and suggest that haploinsufficiency could explain metabolic abnormalities in heterozygous carriers in presence of predisposing conditions.

Strategic alignment and performance: Brazilian companies in the medical diagnostics sector

A gap has been identified in the literature on the diagnosis and monitoring of the degree of strategic alignment. The main objective of this article is to diagnose and analyze the strategic alignment profile using the alignment diagnostic profile (ADP) tool, which enables organizations to show visually their degree of strategic alignment. The methodological approach adopted is multiple-case studies, which were conducted at five organizations in the medical diagnostics sector. The results indicate that the ADP enables organizations to understand the steps required to improve their level of alignment and to identify and locate gaps and conflicts.

Variable Demand and Profitability in Service Companies: a case study in the information technology sector

Managing a variable demand scenario is particularly challenging on services organizations because services companies usually have a major part of fixed costs. The article studies how a services organization manages its demand variability and its relation with the organization`s profitability. Moreover, the study searched for alternatives used to reduce the demand variability`s impact on the profitability of the company. The research was based on a case study with a Brazilian services provider on information technology business. The study suggests that alternatives like using outsourced employees to cover demand peaks may bring benefits only on short term, reducing the profitability of the company on long term: Some options are revealed, like the internationalization of employees and the investment on developing its own workforce.

'Lots of little kindnesses': valuing the role of older Australians as informal volunteers in the community

This paper describes the ways in which older people contribute to their communities and families as informal volunteers. It challenges current ways of thinking that assign an economic value to the productive activities undertaken by older people. Using qualitative data from a study of older people resident in Queensland, Australia, the paper explores the ways that older people contribute to their families and to the community and the outcomes associated with these activities. Two specific themes emerged from the data: first, the ways' in which older people contribute to strong inter-generational relations, and second, how they provide essential mutual support that permits many older people to remain living in the community. These contributions, while often small in themselves, are in aggregate critical both to family functioning and to the maintenance of sustainable and healthy communities. Many are reciprocal interactions that add value to the lives of individuals and offer positive social roles in later life, and they may be particularly important for those from minority cultural backgrounds or at risk of social isolation. The findings suggest that older people are integral to community and civil society and, therefore, that social policy should respond to the ageing of Australia's population and recognise the positive contributions of older people, rather than emphasising the costs of demographic change.

Allergic rhinitis in the child and associated comorbidities

Allergic rhinitis (AR) typically presents after the second year of life, but the exact prevalence in early life is unknown. AR affects 10-30% of the population, with the greatest frequency found in children and adolescents. It appears that the prevalence has increased in the pediatric population. As the childs` immune system develops between the 1st and 4th yr of life, those with an atopic predisposition begin to express allergic disease with a clear Th(2) response to allergen exposure, resulting in symptoms. In pediatric AR, two or more seasons of pollen exposure are generally needed for sensitization, so allergy testing to seasonal allergens (trees, grasses, and weeds) should be conducted after the age of 2 or 3 years. Sensitization to perennial allergens (animals, dust mites, and cockroaches) may manifest several months after exposure. Classification of AR includes measurement of frequency and duration of symptoms. Intermittent AR is defined as symptoms for < 4 days/wk or < 4 consecutive weeks. Persistent AR is defined as occurring for more than 4 days/wk and more than 4 consecutive weeks. AR is associated with impairments in quality of life, sleep disorders, emotional problems, and impairment in activities such as work and school productivity and social functioning. AR can also be graded in severity - either mild or moderate/severe. There are comorbidities associated with AR. The chronic effects of the inflammatory process affect lungs, ears, growth, and others. AR can induce medical complications, learning problems and sleep-related complaints, such as obstructive sleep apnea syndrome and chronic and acute sinusitis, acute otitis media, serous otitis media, and aggravation of adenoidal hypertrophy and asthma.

Brazilian external sector so far in the 21st century

Although Brazil has traditionally been characterized by a culture of inward-looking policy making, the presence of foreign firms in the Brazilian productive sector has always been significant. The share of foreign-owned firms is one of the highest that can be found among developing countries. This article discusses the main features of the external sector of the Brazilian economy, regarding trade flows, foreign investment, the internationalization of Brazilian entrepreneurial groups and the short-term financial requirements in foreign currencies

Interaction between information systems and work in the Brazilian banking sector

This article presents the results of a research to understand the conditions of interaction between work and three specific information systems (ISs) used in the Brazilian banking sector. We sought to understand how systems are redesigned in work practices, and how work is modified by the insertion of new systems. Data gathering included 46 semi-structured interviews, together with an analysis of system-related documents. We tried to identify what is behind the practices that modify the ISs and work. The data analysis revealed an operating structure: a combination of different practices ensuring that the interaction between agents and systems will take place. We discovered a structure of reciprocal conversion caused by the increased technical skills of the agent and the humanization of the systems. It is through ongoing adjustment between work and ISs that technology is tailored to the context and people become more prepared to handle with technology.

Innovative technological capability in firms of the tourism sector: a study of the hotels in the city of Rio de Janeiro during the 1990-2008 period

This article presents the preliminary report of the research project entitled "Innovative technological capability in firms of the tourism sector: a study of the hotels in the city of Rio de Janeiro during the 1990-2008 period". The objective of this project is to apply and evaluate an analytical model of technological capability and underlying learning processes and examine the accumulation trajectory of innovative technological capability in the firms of tourism service industry, and the impact of learning processes undertaken by these firms on the technological capability levels achieved during the 1990-2008 period.

Child-care attendance and common morbidity: evidence of association in the literature and questions of design

Papers on child-care attendance as a risk factor for acute respiratory infections and diarrhea were reviewed. There was great variety among the studies with regard to the design, definition of exposure and definition of outcomes. All the traditional epidemiological study designs have been used. The studies varied in terms of how child-care attendance in general was defined, and for different settings. These definitions differed especially in relation to the minimum time of attendance required. The outcomes were also defined and measured in several different ways. The analyses performed were not always appropriate, leading to sets of results of uneven quality, and composed of different measures of association relating different exposures and outcomes, that made summarizing difficult. Despite that, the results reported were remarkably consistent. Only two of the papers reviewed failed to show some association between child-care attendance and increased acute respiratory infections, or diarrhea. On the other hand, the magnitude of the associations reported varied widely, especially for lower respiratory infections. Taken together, the studies so far published provide evidence that children attending child-care centers, especially those under three years of age, are at a higher risk of upper respiratory infections, lower respiratory infections, and diarrhea. The studies were not consistent, however, in relation to attendance at child-care homes. Children in such settings were sometimes similar to those in child-care centers, sometimes similar to those cared for at home, and sometimes presented an intermediate risk.

HIV rapid testing as a key strategy for prevention of mother-to-child transmission in Brazil

OBJECTIVE: To assess the feasibility of HIV rapid testing for pregnant women at maternity hospital admission and of subsequent interventions to reduce perinatal HIV transmission. METHODS: Study based on a convenience sample of women unaware of their HIV serostatus when they were admitted to delivery in public maternity hospitals in Rio de Janeiro and Porto Alegre, Brazil, between March 2000 and April 2002. Women were counseled and tested using the Determine HIV1/2 Rapid Test. HIV infection was confirmed using the Brazilian algorithm for HIV infection diagnosis. In utero transmission of HIV was determined using HIV-DNA-PCR. There were performed descriptive analyses of sociodemographic data, number of previous pregnancies and abortions, number of prenatal care visits, timing of HIV testing, HIV rapid test result, neonatal and mother-to-child transmission interventions, by city studied. RESULTS: HIV prevalence in women was 6.5% (N=1,439) in Porto Alegre and 1.3% (N=3.778) in Rio de Janeiro. In Porto Alegre most of women were tested during labor (88.7%), while in Rio de Janeiro most were tested in the postpartum (67.5%). One hundred and forty-four infants were born to 143 HIV-infected women. All newborns but one in each city received at least prophylaxis with oral zidovudine. It was possible to completely avoid newborn exposure to breast milk in 96.8% and 51.1% of the cases in Porto Alegre and Rio de Janeiro, respectively. Injectable intravenous zidovudine was administered during labor to 68.8% and 27.7% newborns in Porto Alegre and Rio de Janeiro, respectively. Among those from whom blood samples were collected within 48 hours of birth, in utero transmission of HIV was confirmed in 4 cases in Rio de Janeiro (4/47) and 6 cases in Porto Alegre (6/79). CONCLUSIONS: The strategy proved feasible in maternity hospitals in Rio de Janeiro and Porto Alegre. Efforts must be taken to maximize HIV testing during labor. There is a need of strong social support to provide this population access to health care services after hospital discharge.

Social contextual factors contributing to child and adolescent labor: an ecological analysis

OBJECTIVE: To examine the relationship between social contextual factors and child and adolescent labor. METHODS: Population-based cohort study carried out with 2,512 families living in 23 subareas of a large urban city in Brazil from 2000 to 2002. A random one-stage cluster sampling was used to select families. Data were obtained through individual household interviews using questionnaires. The annual cumulative incidence of child and adolescent labor was estimated for each district. New child and adolescent labor cases were those who had their first job over the two-year follow-up. The annual cumulative incidence of child and adolescent labor was the response variable and predictors were contextual factors such as lack of social support, social deprivation, unstructured family, perceived violence, poor school quality, poor environment conditions, and poor public services. Pearson's correlation and multiple linear regression were used to assess the associations. RESULTS: There were selected 943 families corresponding to 1,326 non-working children and adolescents aged 8 to 17 years. Lack of social support, social deprivation, perceived violence were all positively and individually associated with the annual cumulative incidence of child and adolescent labor. In the multiple linear regression model, however, only lack of social support and perceived violence in the neighborhood were positively associated to child and adolescent labor. No effect was found for poor school quality, poor environment conditions, poor public services or unstructured family. CONCLUSIONS: Poverty reduction programs can reduce the contextual factors associated with child and adolescent labor. Violence reduction programs and strengthening social support at the community level may contribute to reduce CAL.