Large distribution and high sequence identity of a Copia-type retrotransposon in angiosperm families

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Sustainable Families Action Team - IANR Team Effort Award

It's amazing what people, working together, can do. Amazing, inspiring, and uplifting! I know that each member of the Sustainable Families Action Team brings to that team their own particular talents. Today, with the IANR Team Effort Award, we recognize the team members willingness to combine their individual talents, with each team member contributing to a larger whole for the good of Nebraska.

Food Handling Practices, Knowledge and Beliefs of Families with Young Children Based on the Health Belief Model

Objective: To determine current food handling practices, knowledge and beliefs of primary food handlers with children 10 years old and the relationship between these components. Design: Surveys were developed based on FightBac!™ concepts and the Health Belief Model (HBM) construct. Participants: The majority of participants (n= 503) were females (67%), Caucasians (80%), aged between 30 to 49 years old (83%), had one or two children (83%), prepared meals all or most of the time (76%) and consumed meals away from home three times or less per week (66%). Analysis: Descriptive statistics and inferential statistics using Spearman’s rank correlation coefficient (rho) (p<0.05 and one-tail) and Chi-square were used to examine frequency and correlations. Results: Few participants reached the food safety objectives of Healthy People 2010 for safe food handling practices (79%). Mixed results were reported for perceived susceptibility. Only half of the participants (53-54%) reported high perceived severity for their children if they contracted food borne illness. Most participants were confident of their food handling practices for their children (91%) and would change their food handling practices if they or their family members previously experienced food poisoning (79%). Participants’ reasons for high self-efficacy were learning from their family and independently acquiring knowledge and skills from the media, internet or job. The three main barriers to safe food handling were insufficient time, lots of distractions and lack of control of the food handling practices of other people in the household. Participants preferred to use food safety information that is easy to understand, has scientific facts, causes feelings of health-threat and has lots of pictures or visuals. Participants demonstrate high levels of knowledge in certain areas of the FightBac!TM concepts but lacked knowledge in other areas. Knowledge and cues to action were most supportive of the HBM construct, while perceived susceptibility was least supportive of the HBM construct. Conclusion: Most participants demonstrate many areas to improve in their food handling practices, knowledge and beliefs. Adviser: Julie A. Albrecht

PowerPoint on Water, Food, Energy, and Youth, Families and Communities

Thank you for this opportunity to speak with you today. It's always my pleasure to talk about the exciting work occurring in the Institute of Agriculture and Natural Resources.

Family Management Style Framework and Its Use With Families Who Have a Child Undergoing Palliative Care at Home

Palliative care settings in many countries acknowledge families as their prime focus of care, but in Brazil, to date, researchers have devoted scant attention to that practice setting. In this article, we report the findings of a study that explored how families define and manage their lives when they have a child or adolescent undergoing palliative care at home. Data included individual semistructured interviews with 14 family members of 11 different families. Interviews were transcribed and the coding procedure featured qualitative content analysis methods. The deductive coding was based on the major components of the Family Management Style Framework and the eight dimensions comprising these components. The analysis provides insight into families' daily practices and problems inherent in managing their everyday lives that are encountered when they have a child in palliative care. The article features discussion of implications for the palliative care related development of family nursing practice.

Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study

Background: The purpose of this study was to estimate the genetic influences on the initiation of cigarette smoking, the persistence, quantity and age-at-onset of regular cigarette use in Brazilian families. Methods: The data set consisted of 1,694 individuals enrolled in the Baependi Heart Study. The heritability and the heterogeneity in genetic and environmental variance components by gender were estimated from variance components approaches, using the SOLAR (Sequential Oligogenic Linkage Analysis Routines) computer package. The mixed-effects Cox model was used for the genetic analysis of the age-at onset of regular cigarette use. Results: The heritability estimates were high (> 50%) for smoking initiation and were intermediate, ranging from 23.4 to 31.9%, for smoking persistence and quantity. Significant evidence for heterogeneity in variance components by gender was observed for smoking initiation and age-at-onset of regular cigarette use. Genetic factors play an important role in the interindividual variation of these phenotypes in females, while in males there is a predominant environmental component, which could be explained by greater social influences in the initiation of tobacco use. Conclusions: Significant heritabilities were observed in smoking phenotypes for both males and females from the Brazilian population. These data add to the literature and are concordant with the notion of significant biological determination in smoking behavior. Samples from the Baependi Heart Study may be valuable for the mapping of genetic loci that modulate this complex biological trait.

The therapeutic journey of families of children with respiratory diseases in the public health service

This study's purpose was to identify the therapeutic journey of families seeking health care for their children with respiratory diseases. This qualitative study had the participation of parents of children younger than five years old who were hospitalized with respiratory diseases. Path mapping was used as an instrument to collect data, which was analyzed through thematic analysis. The finding indicate that families sought the health services as soon as they perceived symptoms and had access to medical care, however such care was not decisive in resolving their health issues. Even though the families returned to the service at least another three times, the children had to be hospitalized. The attributes of primary health care were not observed in the public health services, while therapeutic encounters had no practical success.

Eating behaviors and the social status of families of malnourished children

The objective of this study was to learn about the everyday eating behaviors and the social status of the families of malnourished children. This qualitative study involved eight families. Data were collected by participant observation and semi-structured interviews. Thematic analysis revealed the following themes: family eating; the family's social status and eating during childhood; and the presence of social programs and equipment. The family did not gather for meals and their food consisted basically of different sources of carbohydrates. Fruits and vegetables were very limited and considered to be food choices that did not provide sustenance. Differences were observed between the family's' and the children's' eating habits. Social programs and equipment provided important support, especially regarding the positive attachment with institutions and professionals and following the children's health. The family's social status does not allow the offering of appropriate quantities and quality of food throughout the month, thus compromising the nutritional status of the children, who are deprived of appropriate foods of adequate nutritional value.

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects

Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, precise diagnosis of MODY is important for determining management and prognosis. We report two heterozygous GCK mutations identified during the investigation of short stature. Case 1: a prepubertal 14-year-old boy was evaluated for constitutional delay of growth and puberty. During follow-up, he showed abnormal fasting glucose (113 mg/dL), increased level of HbA1c (6.6%), and negative beta-cell antibodies. His father and two siblings also had slightly elevated blood glucose levels. The mother had normal glycemia. A GCK heterozygous missense mutation, p.Arg191Trp, was identified in the proband. Eighteen family members were screened for this mutation, and 11 had the mutation in heterozygous state. Case 2: a 4-year-old boy investigated for short stature revealed no other laboratorial alterations than elevated glycemia (118 mg/dL); beta-cell antibodies were negative. His father, a paternal aunt, and the paternal grandmother also had slightly elevated glycemia, whereas his mother had normal glycemia. A GCK heterozygous missense mutation, p.Glu221Lys, was identified in the index patient and in four family members. All affected patients had mild elevated glycemia. Individuals with normal glycemia did not harbor mutations. GCK mutation screening should be considered in patients with chronic mild early-onset hyperglycemia, family history of impaired glycemia, and negative beta-cell antibodies. Arq Bras Endocrinol Metab. 2012;56(8):519-24

Evaluation of the vulnerability of families assisted in Primary Care in Brazil

Objective: to characterize the profiles of families in the area covered by a Primary Health Center and to identify those in a vulnerable situation. Method: this is an epidemiological, observational, cross-sectional and quantitative study. 320 home visits were made, defined by a random sample of the areas covered by the Urban Center 1 in the city of Sao Sebastiao, in Brazil's Federal District. A structured questionnaire was used for data collection, elaborated based on the Family Development Index (FDI). Results: there was a predominance of young families, women, and low levels of schooling. The FDI permitted the identification of families in situations of "high" and "very high" vulnerability. The most critical dimensions were: "access to knowledge" and "access to work". Conclusion: the study indicated the importance of greater investments in the areas of education, work and income, and highlighted the need for the use of a wider concept of vulnerability by the health services.

Nutritional transition of school children from low income families of a northeastern urban area, Brazil

Background: Evaluating child growth is, in practice, performed by measuring the development of a child's weight, height, and body composition in comparison to averages observed among a reference population. Objective: To describe the nutritional status of children of low income families who live in urban region in northeastern Brazil. Methods: This study is a population case series with a transversal and observational design. The study population consisted of 257 children, aged 5 to 10 years, who were enrolled in a public school to children of low income families. We used the cutoff point for short stature of -2 Z scores for age, and underweight, overweight, and obese were classified as the 5th, 85th, and 95th percentiles, respectively, of the body mass index (BMI) for age, with both classifications in accordance with the Center for Disease Control and Prevention (CDC 2000). Comparisons by gender were performed for the measures of the central tendency and the frequency of diagnoses, in addition to the tendency of the evolution of BMI by age. Results: The prevalence of short stature was 3.5% (95% CI: 1.9-6.5). In the evaluation of BMI for age, the prevalences found for underweight, overweight, and obese were 5.8% (95% CI: 3.6-9.4), 4.7% (95% CI: 2.7-8.0), and 2.3% (95% CI: 1.1-5.0), respectively. We found a significant trend in the reduction of BMI with the increase in age. Conclusions: According to CDC references, the prevalences of underweight and short stature were higher than expected and for the overweight and obesity were lower than expected, indicating that the nutritional transition had still not reached, as commonly is described, these low income children from the urban outskirts of the Northeast region.

Transmission of Human Herpesvirus Type 8 Infection Within Families in American Indigenous Populations From the Brazilian Amazon

Background. The intrafamilial dynamics of endemic infection with human herpesvirus type 8 (HHV-8) in Amerindian populations is unknown. Methods. Serum samples were obtained from 517 Amerindians and tested for HHV-8 anti-latent nuclear antigen (anti-LANA) and antilytic antibodies by immunofluorescence assays. Logistic regression and mixed logistic models were used to estimate the odds of being HHV-8 seropositive among intrafamilial pairs. Results. HHV-8 seroprevalence by either assay was 75.4% (95% confidence interval [CI]: 71.5%-79.1%), and it was age-dependent (P-trend<.001). Familial dependence in HHV-8 seroprevalence by either assay was found between mother-offspring (odds ratio [OR], 5.44; 95% CI: 1.62-18.28) and siblings aged >= 10 years (OR 4.42, 95% CI: 1.70-11.45) or siblings in close age range (<5 years difference) (OR 3.37, 95% CI: 1.21-9.40), or in families with large (>4) number of siblings (OR, 3.20, 95% CI: 1.33-7.67). In separate analyses by serological assay, there was strong dependence in mother-offspring (OR 8.94, 95% CI: 2.94-27.23) and sibling pairs aged >= 10 years (OR, 11.91, 95% CI: 2.23-63.64) measured by LANA but not lytic antibodies. Conclusions. This pattern of familial dependence suggests that, in this endemic population, HHV-8 transmission mainly occurs from mother to offspring and between close siblings during early childhood, probably via saliva. The mother to offspring dependence was derived chiefly from anti-LANA antibodies.

New mutations in the GLA gene in Brazilian families with Fabry disease

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD. Overall, 51 families presented 38 alterations in the GLA gene, among which 19 were not previously reported in literature. The alterations included 17 missense mutations, 7 nonsense mutations, 7 deletions, 6 insertions and 1 in the splice site. Six alterations (R112C, R118C, R220X, R227X, R342Q and R356W) occurred at CpG dinucleotides. Five mutations not previously described in the literature (A156D, K237X, A292V, I317S, c.1177_1178insG) were correlated with low GLA enzyme activity and with prediction of molecular damages. From the 13 deletions and insertions, 7 occurred in exons 6 or 7 (54%) and 11 led to the formation of a stop codon. The present study highlights the detection of new genomic alterations in the GLA gene in the Brazilian population, facilitating the selection of patients for recombinant enzyme-replacement trials and offering the possibility to perform prenatal diagnosis. Journal of Human Genetics (2012) 57, 347-351; doi:10.1038/jhg.2012.32; published online 3 May 2012

SmTRC1, a novel Schistosoma mansoni DNA transposon, discloses new families of animal and fungi transposons belonging to the CACTA superfamily

Abstract Background The CACTA (also called En/Spm) superfamily of DNA-only transposons contain the core sequence CACTA in their Terminal Inverted Repeats (TIRs) and so far have only been described in plants. Large transcriptome and genome sequence data have recently become publicly available for Schistosoma mansoni, a digenetic blood fluke that is a major causative agent of schistosomiasis in humans, and have provided a comprehensive repository for the discovery of novel genes and repetitive elements. Despite the extensive description of retroelements in S. mansoni, just a single DNA-only transposon belonging to the Merlin family has so far been reported in this organism. Results We describe a novel S. mansoni transposon named SmTRC1, for S. mansoni Transposon Related to CACTA 1, an element that shares several characteristics with plant CACTA transposons. Southern blotting indicates approximately 30–300 copies of SmTRC1 in the S. mansoni genome. Using genomic PCR followed by cloning and sequencing, we amplified and characterized a full-length and a truncated copy of this element. RT-PCR using S. mansoni mRNA followed by cloning and sequencing revealed several alternatively spliced transcripts of this transposon, resulting in distinct ORFs coding for different proteins. Interestingly, a survey of complete genomes from animals and fungi revealed several other novel TRC elements, indicating new families of DNA transposons belonging to the CACTA superfamily that have not previously been reported in these kingdoms. The first three bases in the S. mansoni TIR are CCC and they are identical to those in the TIRs of the insects Aedes aegypti and Tribolium castaneum, suggesting that animal TRCs may display a CCC core sequence. Conclusion The DNA-only transposable element SmTRC1 from S. mansoni exhibits various characteristics, such as generation of multiple alternatively-spliced transcripts, the presence of terminal inverted repeats at the extremities of the elements flanked by direct repeats and the presence of a Transposase_21 domain, that suggest a distant relationship to CACTA transposons from Magnoliophyta. Several sequences from other Metazoa and Fungi code for proteins similar to those encoded by SmTRC1, suggesting that such elements have a common ancestry, and indicating inheritance through vertical transmission before separation of the Eumetazoa, Fungi and Plants.

Heritability of physical activity traits in Brazilian families: the Baependi Heart Study

Background It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1) estimate the heritability of physical activity traits in Brazilian families; and (2) investigate whether genetic and environmental variance components contribute differently to the expression of these phenotypes in males and females. Methods The sample that constitutes the Baependi Heart Study is comprised of 1,693 individuals in 95 Brazilian families. The phenotypes were self-reported in a questionnaire based on the WHO-MONICA instrument. Variance component approaches, implemented in the SOLAR (Sequential Oligogenic Linkage Analysis Routines) computer package, were applied to estimate the heritability and to evaluate the heterogeneity of variance components by gender on the studied phenotypes. Results The heritability estimates were intermediate (35%) for weekly physical activity among non-sedentary subjects (weekly PA_NS), and low (9-14%) for sedentarism, weekly physical activity (weekly PA), and level of daily physical activity (daily PA). Significant evidence for heterogeneity in variance components by gender was observed for the sedentarism and weekly PA phenotypes. No significant gender differences in genetic or environmental variance components were observed for the weekly PA_NS trait. The daily PA phenotype was predominantly influenced by environmental factors, with larger effects in males than in females. Conclusions Heritability estimates for physical activity phenotypes in this sample of the Brazilian population were significant in both males and females, and varied from low to intermediate magnitude. Significant evidence for heterogeneity in variance components by gender was observed. These data add to the knowledge of the physical activity traits in the Brazilian study population, and are concordant with the notion of significant biological determination in active behavior.