Nutritional evaluation of children with phenylketonuria

CONTEXT: Dietary phenylalanine (PA) restriction is the most effective form for reducing its excess in the blood and is the only efficient method for treating phenylketonuria. The diet is complex and should be adapted to combine the patients' eating habits, growth and development. It depends basically on the use of industrialized products as substitutes free of PA for proteins that are not fully supplied. OBJECTIVE: To evaluate the nutritional status of children with phenylketonuria (PKU) by anthropometric measurements and food intake. DESIGN: Cross-sectional study. SETTING: Children with PKU attending the Association of Parents and Friends of Handicapped Children (Associação de Pais e Amigos dos Excepcionais - APAE) and normal children attending at municipal day care centers in São Paulo. PARTICIPANTS: 42 children with PKU and 31 normal children aged 1 to 12 of both sexes were assessed in two groups, under and over 7 years of age. MAIN MEASUREMENTS: Weight and height measurements. RESULTS: Children with PKU ingested calories, calcium, iron, zinc, and copper below the recommended values, whereas the protein intake was within the normal range. Food intake in the group of normal children was within normality rates. The height/weight Z-score means for children with PKU were 0.47 for those under 7 years and 1.86 for 7 year-olds and over; in normal children the means were 0.97 <7 years and 1.54 ³7 years, with no statistically significant difference. The height/age Z-score means were significantly lower in the PKU children <7 years (-1.23) than in the normal controls (0.91). CONCLUSIONS: The data presented demonstrate the importance of nutritional surveillance in patients with PKU so as to support adequacy of nutrient intake and to guarantee growth within the relevant standards.CONTEXTO: A restrição dietética da fenilalanina (FAL) é a forma mais efetiva para reduzir o seu excesso no sangue e o único método efetivo de tratar a fenilcetonúria. A dieta é complexa e deve ser adaptada para combinar hábitos alimentares, crescimento e desenvolvimento dos pacientes. Depende basicamente do uso de produtos industrializados como substitutos protéicos isentos de FAL, não totalmente suplementados. OBJETIVO: Avaliar o estado nutricional das crianças fenilcetonúricas por medidas antropométricas e o consumo alimentar. TIPO DE ESTUDO: Estudo transversal LOCAL: Associação de Pais e Amigos dos Excepcionais (APAE) de São Paulo, Creche e Centro de Juventude da Prefeitura de São Paulo. PARTICIPANTES: 42 crianças fenilcetonúricas e 31 normais, na faixa etária de 1 a 12 anos, divididas em dois grupos abaixo e acima de 7 anos, de ambos os sexos. RESULTADOS: As fenilcetonúricas apresentaram porcentagem de adequação da ingestão de calorias, cálcio, ferro, zinco e cobre abaixo do recomendado. A ingestão protéica estava dentro da normalidade. O consumo alimentar no grupo de crianças normais apresentou-se dentro da faixa da normalidade. As médias de peso para estatura em escore z das fenilcetonúricas foram 0.47 < 7 anos e 1.86 ³ 7 anos; nas normais 0.97 < 7 anos e 1.54 ³ 7 anos, sem diferença estatisticamente significante. As médias de E/I apresentaram diferença estatisticamente significante entre fenilcetonúricas < 7 anos (- 1.23) e crianças normais de mesma faixa etária (0,91). CONCLUSÃO: Concluiu-se que a vigilância nutricional em crianças fenilcetonúricas é importante para manutenção dos padrões de crescimento e o adequado consumo de nutrientes.University of São PauloFederal University of São PauloUNIFESPSciEL

Sexuality and Affection among Elderly German Men and Women in Long-Term Relationships: Results of a Prospective Population-Based Study

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study was funded by the German Federal Ministry for Families, Senior Citizens, Women and Youth (AZ 314-1722-102/16; AZ 301-1720-295/2), the Ministry for Science, Research and Art Baden-Württemberg, and the University of Rostock (FORUN 989020; 889048)

Effects of gestational age at birth on cognitive performance : a function of cognitive workload demands

Objective: Cognitive deficits have been inconsistently described for late or moderately preterm children but are consistently found in very preterm children. This study investigates the association between cognitive workload demands of tasks and cognitive performance in relation to gestational age at birth. Methods: Data were collected as part of a prospective geographically defined whole-population study of neonatal at-risk children in Southern Bavaria. At 8;5 years, n = 1326 children (gestation range: 23–41 weeks) were assessed with the K-ABC and a Mathematics Test. Results: Cognitive scores of preterm children decreased as cognitive workload demands of tasks increased. The relationship between gestation and task workload was curvilinear and more pronounced the higher the cognitive workload: GA2 (quadratic term) on low cognitive workload: R2 = .02, p<0.001; moderate cognitive workload: R2 = .09, p<0.001; and high cognitive workload tasks: R2 = .14, p<0.001. Specifically, disproportionally lower scores were found for very (<32 weeks gestation) and moderately (32–33 weeks gestation) preterm children the higher the cognitive workload of the tasks. Early biological factors such as gestation and neonatal complications explained more of the variance in high (12.5%) compared with moderate (8.1%) and low cognitive workload tasks (1.7%). Conclusions: The cognitive workload model may help to explain variations of findings on the relationship of gestational age with cognitive performance in the literature. The findings have implications for routine cognitive follow-up, educational intervention, and basic research into neuro-plasticity and brain reorganization after preterm birth

Vacuum stability, neutrinos, and dark matter

Motivated by the discovery hint of the Standard Model (SM) Higgs mass around 125 GeV at the LHC, we study the vacuum stability and perturbativity bounds on Higgs scalar of the SM extensions including neutrinos and dark matter (DM). Guided by the SM gauge symmetry and the minimal changes in the SM Higgs potential we consider two extensions of neutrino sector (Type-I and Type-III seesaw mechanisms) and DM sector (a real scalar singlet (darkon) and minimal dark matter (MDM)) respectively. The darkon contributes positively to the $\beta$ function of the Higgs quartic coupling $\lambda$ and can stabilize the SM vacuum up to high scale. Similar to the top quark in the SM we find the cause of instability is sensitive to the size of new Yukawa couplings between heavy neutrinos and Higgs boson, namely, the scale of seesaw mechanism. MDM and Type-III seesaw fermion triplet, two nontrivial representations of $SU(2)_{L}$ group, will bring the additional positive contributions to the gauge coupling $g_{2}$ renormalization group (RG) evolution and would also help to stabilize the electroweak vacuum up to high scale.Comment: 18 pages, 15 figures; published versio

Genome-wide saturation mutagenesis of Burkholderia pseudomallei K96243 predicts essential genes and novel targets for antimicrobial development

This is the final version of the article. Available from the publisher via the DOI in this record.Burkholderia pseudomallei is the causative agent of melioidosis, an often fatal infectious disease for which there is no vaccine. B. pseudomallei is listed as a tier 1 select agent, and as current therapeutic options are limited due to its natural resistance to most antibiotics, the development of new antimicrobial therapies is imperative. To identify drug targets and better understand the complex B. pseudomallei genome, we sought a genome-wide approach to identify lethal gene targets. As B. pseudomallei has an unusually large genome spread over two chromosomes, an extensive screen was required to achieve a comprehensive analysis. Here we describe transposon-directed insertion site sequencing (TraDIS) of a library of over 10(6) transposon insertion mutants, which provides the level of genome saturation required to identify essential genes. Using this technique, we have identified a set of 505 genes that are predicted to be essential in B. pseudomallei K96243. To validate our screen, three genes predicted to be essential, pyrH, accA, and sodB, and a gene predicted to be nonessential, bpss0370, were independently investigated through the generation of conditional mutants. The conditional mutants confirmed the TraDIS predictions, showing that we have generated a list of genes predicted to be essential and demonstrating that this technique can be used to analyze complex genomes and thus be more widely applied. IMPORTANCE: Burkholderia pseudomallei is a lethal human pathogen that is considered a potential bioterrorism threat and has limited treatment options due to an unusually high natural resistance to most antibiotics. We have identified a set of genes that are required for bacterial growth and thus are excellent candidates against which to develop potential novel antibiotics. To validate our approach, we constructed four mutants in which gene expression can be turned on and off conditionally to confirm that these genes are required for the bacteria to survive.This work was partially funded by the Defence Science and Technology Laboratories (DSTL)

VEZF1 elements mediate protection from DNA methylation

There is growing consensus that genome organization and long-range gene regulation involves partitioning of the genome into domains of distinct epigenetic chromatin states. Chromatin insulator or barrier elements are key components of these processes as they can establish boundaries between chromatin states. The ability of elements such as the paradigm &#946;-globin HS4 insulator to block the range of enhancers or the spread of repressive histone modifications is well established. Here we have addressed the hypothesis that a barrier element in vertebrates should be capable of defending a gene from silencing by DNA methylation. Using an established stable reporter gene system, we find that HS4 acts specifically to protect a gene promoter from de novo DNA methylation. Notably, protection from methylation can occur in the absence of histone acetylation or transcription. There is a division of labor at HS4; the sequences that mediate protection from methylation are separable from those that mediate CTCF-dependent enhancer blocking and USF-dependent histone modification recruitment. The zinc finger protein VEZF1 was purified as the factor that specifically interacts with the methylation protection elements. VEZF1 is a candidate CpG island protection factor as the G-rich sequences bound by VEZF1 are frequently found at CpG island promoters. Indeed, we show that VEZF1 elements are sufficient to mediate demethylation and protection of the APRT CpG island promoter from DNA methylation. We propose that many barrier elements in vertebrates will prevent DNA methylation in addition to blocking the propagation of repressive histone modifications, as either process is sufficient to direct the establishment of an epigenetically stable silent chromatin stat

Get screened: a pragmatic randomized controlled trial to increase mammography and colorectal cancer screening in a large, safety net practice

Abstract Background Most randomized controlled trials of interventions designed to promote cancer screening, particularly those targeting poor and minority patients, enroll selected patients. Relatively little is known about the benefits of these interventions among unselected patients. Methods/Design "Get Screened" is an American Cancer Society-sponsored randomized controlled trial designed to promote mammography and colorectal cancer screening in a primary care practice serving low-income patients. Eligible patients who are past due for mammography or colorectal cancer screening are entered into a tracking registry and randomly assigned to early or delayed intervention. This 6-month intervention is multimodal, involving patient prompts, clinician prompts, and outreach. At the time of the patient visit, eligible patients receive a low-literacy patient education tool. At the same time, clinicians receive a prompt to remind them to order the test and, when appropriate, a tool designed to simplify colorectal cancer screening decision-making. Patient outreach consists of personalized letters, automated telephone reminders, assistance with scheduling, and linkage of uninsured patients to the local National Breast and Cervical Cancer Early Detection program. Interventions are repeated for patients who fail to respond to early interventions. We will compare rates of screening between randomized groups, as well as planned secondary analyses of minority patients and uninsured patients. Data from the pilot phase show that this multimodal intervention triples rates of cancer screening (adjusted odds ratio 3.63; 95% CI 2.35 - 5.61). Discussion This study protocol is designed to assess a multimodal approach to promotion of breast and colorectal cancer screening among underserved patients. We hypothesize that a multimodal approach will significantly improve cancer screening rates. The trial was registered at Clinical Trials.gov NCT00818857http://deepblue.lib.umich.edu/bitstream/2027.42/78264/1/1472-6963-10-280.xmlhttp://deepblue.lib.umich.edu/bitstream/2027.42/78264/2/1472-6963-10-280.pdfPeer Reviewe

Statistical Inference for Valued-Edge Networks: Generalized Exponential Random Graph Models

Across the sciences, the statistical analysis of networks is central to the production of knowledge on relational phenomena. Because of their ability to model the structural generation of networks, exponential random graph models are a ubiquitous means of analysis. However, they are limited by an inability to model networks with valued edges. We solve this problem by introducing a class of generalized exponential random graph models capable of modeling networks whose edges are valued, thus greatly expanding the scope of networks applied researchers can subject to statistical analysis

The future of successful aging in Alaska

Background. There is a paucity of research on Alaska Natives and their views on whether or not they believe they will age successfully in their home and community. There is limited understanding of aging experiences across generations. Objective. This research explores the concept of successful aging from an urban Alaska Native perspective and explores whether or not they believe they will achieve a healthy older age. Design. A cultural consensus model (CCM) approach was used to gain a sense of the cultural understandings of aging among young Alaska Natives aged 50 years and younger. Results. Research findings indicate that aging successfully is making the conscious decision to live a clean and healthy life, abstaining from drugs and alcohol, but some of Alaska Natives do not feel they will age well due to lifestyle factors. Alaska Natives see the inability to age well as primarily due to the decrease in physical activity, lack of availability of subsistence foods and activities, and the difficulty of living a balanced life in urban settings. Conclusions. This research seeks to inform future studies on successful aging that incorporates the experiences and wisdom of Alaska Natives in hopes of developing an awareness of the importance of practicing a healthy lifestyle and developing guidelines to assist others to age well

Measurement of the inclusive and dijet cross-sections of b-jets in pp collisions at sqrt(s) = 7 TeV with the ATLAS detector

The inclusive and dijet production cross-sections have been measured for jets containing b-hadrons (b-jets) in proton-proton collisions at a centre-of-mass energy of sqrt(s) = 7 TeV, using the ATLAS detector at the LHC. The measurements use data corresponding to an integrated luminosity of 34 pb^-1. The b-jets are identified using either a lifetime-based method, where secondary decay vertices of b-hadrons in jets are reconstructed using information from the tracking detectors, or a muon-based method where the presence of a muon is used to identify semileptonic decays of b-hadrons inside jets. The inclusive b-jet cross-section is measured as a function of transverse momentum in the range 20 < pT < 400 GeV and rapidity in the range |y| < 2.1. The bbbar-dijet cross-section is measured as a function of the dijet invariant mass in the range 110 < m_jj < 760 GeV, the azimuthal angle difference between the two jets and the angular variable chi in two dijet mass regions. The results are compared with next-to-leading-order QCD predictions. Good agreement is observed between the measured cross-sections and the predictions obtained using POWHEG + Pythia. MC@NLO + Herwig shows good agreement with the measured bbbar-dijet cross-section. However, it does not reproduce the measured inclusive cross-section well, particularly for central b-jets with large transverse momenta.Comment: 10 pages plus author list (21 pages total), 8 figures, 1 table, final version published in European Physical Journal