Sample records for pku collaborative study

  1. PKU and Maternal PKU: The Cure and the Problem.

    ERIC Educational Resources Information Center

    Henderson, Robert A.

    1989-01-01

    A longitudinal study is evaluating the efficacy of a phenylalanine-restricted diet in reducing disabling conditions associated with maternal hyperphenylalaninemia. Titled the Maternal PKU Collaborative Study, it is studying 162 American and Canadian women and involves diet therapy, prenatal examinations, laboratory tests, nutritional evaluation,…

  2. Phenylketonuria in adulthood: a collaborative study.

    PubMed

    Koch, R; Burton, B; Hoganson, G; Peterson, R; Rhead, W; Rouse, B; Scott, R; Wolff, J; Stern, A M; Guttler, F; Nelson, M; de la Cruz, F; Coldwell, J; Erbe, R; Geraghty, M T; Shear, C; Thomas, J; Azen, C

    2002-09-01

    During 1967-1983, the Maternal and Child Health Division of the Public Health Services funded a collaborative study of 211 newborn infants identified on newborn screening as having phenylketonuria (PKU). Subsequently, financial support was provided by the National Institute of Child Health and Human Development (NICHD). The infants were treated with a phenylalanine (Phe)-restricted diet to age 6 years and then randomized either to continue the diet or to discontinue dietary treatment altogether. One hundred and twenty-five of the 211 children were then followed until 10 years of age. In 1998, NICHD scheduled a Consensus Development Conference on Phenylketonuria and initiated a study to follow up the participants from the original Collaborative Study to evaluate their present medical, nutritional, psychological, and socioeconomic status. Fourteen of the original clinics (1967-1983) participated in the Follow-up Study effort. Each clinic director was provided with a list of PKU subjects who had completed the original study (1967-1983), and was asked to evaluate as many as possible using a uniform protocol and data collection forms. In a subset of cases, magnetic resonance imaging and spectroscopy (MRI/MRS) were performed to study brain Phe concentrations. The medical evaluations revealed that the subjects who maintained a phenylalanine-restricted diet reported fewer problems than the diet discontinuers, who had an increased rate of eczema, asthma, mental disorders, headache, hyperactivity and hypoactivity. Psychological data showed that lower intellectual and achievement test scores were associated with dietary discontinuation and with higher childhood and adult blood Phe concentrations. Abnormal MRI results were associated with higher brain Phe concentrations. Early dietary discontinuation for subjects with PKU is associated with poorer outcomes not only in intellectual ability, but also in achievement test scores and increased rates of medical and behavioural problems.

  3. Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007–2015)

    PubMed Central

    Abbaskhanian, Ali; Zamanfar, Daniel; Afshar, Parvaneh; Asadpoor, Einollah; Rouhanizadeh, Hamed; Jafarnia, Ali; Shokzadeh, Mohammad

    2017-01-01

    Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran. Methods: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography. Results: Of the 407,244 screened newborns (48.7% girls and 51.3% boys), 14 girls and 13 boys were diagnosed definitely from 465 suspicious cases of PKU. The incidence of PKU was 0.66 in 10,000, which was noted in different severity (severe PKU - 1:67,874, mild PKU - 1:45,249, and HPA - 1:33,937). In addition, we did not detect any cases of nonclassic PKU. Conclusions: Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was no significant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease. PMID:29184644

  4. Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.

    PubMed

    Bosch, Annet M; Burlina, Alberto; Cunningham, Amy; Bettiol, Esther; Moreau-Stucker, Flavie; Koledova, Ekaterina; Benmedjahed, Khadra; Regnault, Antoine

    2015-06-18

    The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL). Analyses were exploratory, performed post-hoc on data collected primarily to validate the PKU-QOL. A multicentre, prospective, non-interventional, observational study conducted in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Patients diagnosed with PKU aged ≥9 years old and treated with a Phe-restricted diet and/or Phe-free amino acid protein supplements and/or pharmacological therapy were included in the study; parents of at least one patient with PKU aged <18 years were also included. HRQoL was assessed by generic measures (Pediatric Quality-of-Life Inventory; Medical Outcome Survey 36 item Short Form; Child Health Questionnaire 28 item Parent Form) and the newly developed PKU-QOL. Mean generic domain scores were interpreted using published reference values from the general population. PKU-QOL domain scores were described overall and in different subgroups of patients defined according to severity of PKU, overall assessment of patient's health status by the investigator and treatment with tetrahydrobiopterin (BH4). Data from 559 subjects were analysed: 306 patients (92 children, 110 adolescents, 104 adults) and 253 parents. Mean domain scores of generic measures in the study were comparable to the general population. The highest PKU-QOL impact scores (indicating greater impact) were for emotional impact of PKU, anxiety about blood Phe levels, guilt regarding poor adherence to dietary restrictions or Phe-free amino acid supplement intake and anxiety regarding blood Phe levels during pregnancy. Patients with mild/moderate PKU and those receiving BH4 reported lower practical and emotional impacts of the diet and Phe-free amino acid supplement intake. Patients with PKU showed good HRQoL in the study, both with the generic and PKU-specific measures. Negative impacts of PKU on a patient's life, including the emotional impact of PKU and its management, was delineated by the PKU-QOLs across all age groups.

  5. "I Feel Lucky" - Gratitude Among Young Adults with Phenylketonuria (PKU).

    PubMed

    Diesen, Plata Sofie

    2016-10-01

    If persons with phenylketonuria (PKU) do not start a protein restricted diet in early infancy, they will suffer severe brain damage. Previous qualitative research on adults and adolescents with PKU has identified stigmatization, uncertain risk perceptions, considerable time spent on preparing food, and incongruence between the PKU diet and certain lifestyle demands. The aim of this study was to explore young and early treated Norwegian adults' experiences, by conducting in-depth interviews in 2011 with 11 adults with PKU, aged 20-30. Being the first qualitative study on people with PKU in Norway, the process was inspired by grounded theory. All participants reflected on their own health and existence by expressing positive counterfactual thoughts. They considered themselves lucky to have had parents who had managed the diet, they were grateful for the time and place they were born, and for information and treatment availability, although the results also show some ambiguous attitudes towards the hospital which provided the treatment. The expression of gratitude in association with having PKU suggests a major positive coping strategy. It contributes to a more holistic understanding of the experiences and attitudes of young, Norwegian adults with PKU, as it provides a counterweight to the negative experiences.

  6. PKU Self-Management Timeline

    MedlinePlus

    ... pku UW PKU Clinic News & Events PKU Self-Management Timeline This timeline is also available as an ... file. Click here to download. The PKU Self- Management timeline is included to provide long-term view ...

  7. Parental strategies to help children with phenylketonuria (PKU) cope with feeling different.

    PubMed

    Zwiesele, Sheila; Bannick, Allison; Trepanier, Angela

    2015-08-01

    This study assessed feelings of differentness in children with phenylketonuria (PKU) and elicited parental coping strategies. A total of 22 parents of 7- to 12-year-old patients with PKU completed qualitative interviews, which assessed whether they think their children feel different from their peers and identified potential solution strategies. The results showed that most parents indicated their child feels different due to PKU, which is frequently triggered by situations surrounding food. PKU community involvement and educating others about PKU were perceived by parents as useful coping strategies. Talking to children about differences was frequently used but one of the least effective strategies. Extended family, clinicians, and teachers also attempted to help children cope with feeling different with varying degrees of success. We concluded that most parents perceive that their child with PKU feels different and have developed strategies to manage these feelings. However, a subset struggle with helping their child cope and may benefit from assistance from healthcare providers. © 2015 Wiley Periodicals, Inc.

  8. Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria.

    PubMed

    Moretti, F; Pellegrini, N; Salvatici, E; Rovelli, V; Banderali, G; Radaelli, G; Scazzina, F; Giovannini, M; Verduci, E

    2017-02-01

    No data exist in the current literature on the glycemic index (GI) and glycemic load (GL) of the diet of phenylketonuric (PKU) children. The aims of this study were to examine the dietary GI and GL in PKU children on a low-phenylalanine (Phe)-diet and to evaluate whether an association may exist between the carbohydrate quality and the metabolic profile. Twenty-one PKU children (age 5-11 years) and 21 healthy children, gender and age matched, were enrolled. Dietary (including GI and GL) and blood biochemical assessments were performed. No difference was observed for daily energy intake between PKU and healthy children. Compared to healthy controls, PKU children consumed less protein (p = 0.001) and fat (p = 0.028), and more carbohydrate (% of total energy, p = 0.004) and fiber (p = 0.009). PKU children had higher daily GI than healthy children (mean difference (95% confidence interval), 13.7 (9.3-18.3)) and higher GL (31.7 (10.1-53.2)). PKU children exhibited lower blood total and low density lipoprotein cholesterol (LDL) levels (p < 0.01) and higher triglyceride level (p = 0.014) than healthy children, while glucose and insulin concentrations did not differ. In PKU children the dietary GL was associated with triglyceride glucose index (Spearman's correlation coefficient = 0.515, p = 0.034). In PKU children a relationship of the dietary treatment with GI and GL, blood triglycerides and triglyceride glucose index may exist. Improvement towards an optimal diet for PKU children could include additional attention to the management of dietary carbohydrate quality. Copyright © 2016 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.

  9. Barriers to successful dietary control among pregnant women with phenylketonuria.

    PubMed

    Brown, Amanda Savage; Fernhoff, Paul M; Waisbren, Susan E; Frazier, Dianne M; Singh, Rani; Rohr, Fran; Morris, Jill M; Kenneson, Aileen; MacDonald, Pia; Gwinn, Marta; Honein, Margaret; Rasmussen, Sonja A

    2002-01-01

    The teratogenic effects of maternal PKU are preventable, yet affected babies continue to be born. This study's purpose was to identify barriers to successful dietary control among pregnant women with PKU. An interview-based study was conducted of women with PKU who were known to metabolic disease clinics in three states and pregnant during 1998 to 2000. Medical records were used to document timing of metabolic control. Of 24 women in the study, only 8 (33%) initiated the diet before pregnancy. Of 22 medical records received, only 12 (55%) indicated control of blood phenylalanine levels before 10 weeks' gestation. Risk factors for late dietary control included young age and belief that treatment costs complicated the diet. Although all of the women expressed confidence in the metabolic clinic staff, few perceived their obstetricians were knowledgeable about the maternal PKU diet. Of 13 women enrolled in state-based assistance programs, 9 (69%) reported proof of pregnancy was required for eligibility. Many women using private insurance reported their insurers were unwilling to pay for medical foods. When the data were stratified according to state of residence, differences were observed in the rate of live-born infants, prepregnancy medical food use, average travel time to the metabolic clinic, and gestational week when metabolic control was achieved. Our study's findings may be used to target educational messages to women with PKU and to direct future research directions. For example, obstetric knowledge of maternal PKU needs further evaluation. Discrepancies should be resolved between maternal PKU medical recommendations and the policies of third party-payers. The disparities in financial assistance and services available to pregnant women with PKU residing in different states should be examined further.

  10. Breastfeeding infants with phenylketonuria in the United States and Canada.

    PubMed

    Banta-Wright, Sandra A; Press, Nancy; Knafl, Kathleen A; Steiner, Robert D; Houck, Gail M

    2014-04-01

    This study described the prevalence and duration of mothers' breastfeeding infants with phenylketonuria (PKU) and explored factors related to duration of breastfeeding as a surrogate for breastfeeding success. Descriptive analysis as performed from an international Internet survey of mothers (n=103) who met the inclusion criteria: (1) at least 21 years of age, (2) able to read and write in English, (3) child with PKU, and (4) living in the United States or Canada. Of the 103 mothers, 89 (86%) initiated breastfeeding immediately following delivery, whereas 14 (14%) chose bottle feeding. In comparison to breastfeeding after delivery, significantly fewer mothers breastfed after diagnosis (McNemar's χ(2)=30.33, p<0.001; n=72 vs. n=89). Breastfeeding duration ranged from less than 1 month to 24 months with one modal duration category (n=20, 22%) at less than 1 month. The timing of the addition of commercial infant formula to supplement breastfeeding or expressed mothers' milk was associated with a shorter duration of breastfeeding among infants with PKU: χ(2) (42, n=73)=88.13, p<0.001. PKU is treated with phenylalanine (Phe) restriction. Breastfeeding infants with PKU is challenging in part because Phe intake is difficult to determine precisely. We studied breastfeeding duration in infants with PKU and factors associated with success. Further research should identify the unique needs of mothers' breastfeeding infants with PKU to guide the development of interventions specific to these mothers to support their efforts to continue breastfeeding after the diagnosis of PKU.

  11. The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.

    PubMed

    El-Metwally, Ashraf; Yousef Al-Ahaidib, Lujane; Ayman Sunqurah, Alaa; Al-Surimi, Khaled; Househ, Mowafa; Alshehri, Ali; Da'ar, Omar B; Abdul Razzak, Hira; AlOdaib, Ali Nasser

    2018-01-01

    This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. The prevalence of classical PKU diagnosed through a comprehensive national newborn screening program ranged from 0.005% to 0.0167%. The highest prevalence was reported in Turkey at 0.0167%, whereas the lowest prevalence was reported in the UAE, 0.005%. The findings of this review emphasize the need for the establishment of more efficient reporting systems in these countries that would help measure Disability-Adjusted Life Year (DALY) in order to estimate the overall societal burden of PKU.

  12. Phenylketonuria (PKU). ARC Q&A #101-53.

    ERIC Educational Resources Information Center

    Arc, Arlington, TX.

    This fact sheet uses a question-and-answer format to summarize what is known about phenylketonuria (PKU), an inherited metabolic disease that leads to mental retardation and other developmental disabilities if untreated in infancy. Questions and answers address the following topics: what PKU is; how PKU is inherited; the diagnosis of PKU; the…

  13. Breastfeeding Infants with Phenylketonuria in the United States and Canada

    PubMed Central

    Press, Nancy; Knafl, Kathleen A.; Steiner, Robert D.; Houck, Gail M.

    2014-01-01

    Abstract Objective: This study described the prevalence and duration of mothers' breastfeeding infants with phenylketonuria (PKU) and explored factors related to duration of breastfeeding as a surrogate for breastfeeding success. Subjects and Methods: Descriptive analysis as performed from an international Internet survey of mothers (n=103) who met the inclusion criteria: (1) at least 21 years of age, (2) able to read and write in English, (3) child with PKU, and (4) living in the United States or Canada. Results: Of the 103 mothers, 89 (86%) initiated breastfeeding immediately following delivery, whereas 14 (14%) chose bottle feeding. In comparison to breastfeeding after delivery, significantly fewer mothers breastfed after diagnosis (McNemar's χ2=30.33, p<0.001; n=72 vs. n=89). Breastfeeding duration ranged from less than 1 month to 24 months with one modal duration category (n=20, 22%) at less than 1 month. The timing of the addition of commercial infant formula to supplement breastfeeding or expressed mothers' milk was associated with a shorter duration of breastfeeding among infants with PKU: χ2 (42, n=73)=88.13, p<0.001. Conclusions: PKU is treated with phenylalanine (Phe) restriction. Breastfeeding infants with PKU is challenging in part because Phe intake is difficult to determine precisely. We studied breastfeeding duration in infants with PKU and factors associated with success. Further research should identify the unique needs of mothers' breastfeeding infants with PKU to guide the development of interventions specific to these mothers to support their efforts to continue breastfeeding after the diagnosis of PKU. PMID:24350704

  14. Executive function impairment in early-treated PKU subjects with normal mental development.

    PubMed

    Leuzzi, V; Pansini, M; Sechi, E; Chiarotti, F; Carducci, Cl; Levi, G; Antonozzi, I

    2004-01-01

    Executive functions were studied in 14 early and continuously treated PKU subjects (age 10.8 years, range 8-13) in comparison with controls matched for IQ, sex, age and socioeconomic status. Brain MRI examination was normal in all PKU patients. Neuropsychological evaluation included Wisconsin Card Sorting Test, Rey-Osterreith Complex Figure Test, Elithorn's Perceptual Maze Test, Weigl's Sorting Test, Tower of London, Visual Search and Motor Motor Learning Test. Whatever the IQ, PKU subjects performed worse than controls in tests exploring executive functions. Subgrouping the PKU subjects according to the quality of dietary control for the entire follow-up period (using 400 micromol/L as cut-off value for blood phenylalanine (Phe) concentration) showed that patients with worse dietary control performed more poorly than both the PKU group with the best dietary control and the control group. However, a mild impairment of executive functions was still found in PKU patients with a good dietary control (Phe <400 micromol/L) compared to controls. Concerning the PKU group as a whole, no linear correlation was found between neuropsychological performance and historical and concurrent biochemical parameters. We conclude that (a) PKU patients, even when treated early, rigorously and continuously, show an impairment of frontal lobe functions; (b) a protracted exposure to moderately high levels of Phe can affect frontal lobe functions independently of the possible effect of the same exposure on IQ; (c) in order to reduce the risk of frontal lobe dysfunction, the target of dietary therapy should be to maintain blood Phe concentration below 400 micromol/L.

  15. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.

    PubMed

    Jahja, Rianne; van Spronsen, Francjan J; de Sonneville, Leo M J; van der Meere, Jaap J; Bosch, Annet M; Hollak, Carla E M; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; Hofstede, Floris C; de Vries, Maaike C; Janssen, Mirian C H; van der Ploeg, Ans T; Langendonk, Janneke G; Huijbregts, Stephan C J

    2016-05-01

    Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with respect to social-cognitive functioning and social skills. Ninety five PKU-patients (mean age 21.6 ± 10.2 years) and 95 healthy controls (mean age 19.6 ± 8.7 years) were compared on performance of computerized and paper-and-pencil tasks measuring social-cognitive abilities and on parent- and self-reported social skills, using multivariate analyses of variance, and controlling for general cognitive ability (IQ-estimate). Further comparisons were made between patients using tetrahydrobiopterin (BH4, N = 30) and patients not using BH4. Associations with Phe-levels on the day of testing, during childhood, during adolescence and throughout life were examined. PKU-patients showed poorer social-cognitive functioning and reportedly had poorer social skills than controls (regardless of general cognitive abilities). Quality of social-cognitive functioning was negatively related to recent Phe-levels and Phe-levels between 8 and 12 years for adolescents with PKU. Quality of social skills was negatively related to lifetime phenylalanine levels in adult patients, and specifically to Phe-levels between 0 and 7, and between 8 and 12 years. There were no differences with respect to social outcome measures between the BH4 and non-BH4 groups. PKU-patients have Phe-related difficulties with social-cognitive functioning and social skills. Problems seem to be more evident among adolescents and adults with PKU. High Phe-levels during childhood and early adolescence seem to be of greater influence than current and recent Phe-levels for these patients.

  16. Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress.

    PubMed

    Ambler, Olivia; Medford, Emma; Hare, Dougal J

    2018-04-20

    Phenylketonuria (PKU) is an inherited metabolic condition that can lead to the onset of intellectual disabilities if not strictly managed through a low-protein diet. Parents are responsible for supervising their child's treatment for PKU, which may impact on their experience of distress. This cross-sectional study aimed to identify the factors that contribute to distress in parents who care for a child with PKU, distinct from parents in the general population. Thirty-eight parents of children and adolescents with PKU and 32 parents in the general population completed the questionnaires measuring parental psychological resilience, child behaviour problems, perceived social support and distress. Parents of children with PKU also completed measures of their child's care dependency and behaviour related to developmental and intellectual disabilities. The findings revealed no statistically significant differences in distress between the groups, but parents of children with PKU reported more child behaviour problems. Multiple regression analysis identified that parental psychological resilience and child anxious behaviour explained 35% of the variance in distress for parents of children with PKU. By comparison, parental psychological resilience and generic child behaviour only accounted for 19% of the variance in distress for parents in the general population. This has implications for developing interventions in clinical settings that aim to reduce parents' distress by enhancing their psychological resilience and supporting them to manage child behaviour difficulties, particularly anxious behaviour. Future research should include larger, more diverse samples and use longitudinal study designs.

  17. Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU

    PubMed Central

    Lim, Kyungwha; van Calcar, Sandra C.; Nelson, Kathryn L.; Gleason, Sally T.; Ney, Denise M.

    2007-01-01

    Glycomacropeptide (GMP) is a whey protein that contains no aromatic amino acids including phenylalanine (phe). The objective of this study was to make a variety of palatable, low-phe foods and beverages with GMP and to assess their acceptability by conducting consumer sensory studies in individuals with PKU. Results demonstrate acceptability of products made with GMP. GMP supplemented with limiting indispensable amino acids could provide an alternative protein source for individuals with PKU. PMID:17644019

  18. The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

    PubMed

    Hardelid, P; Cortina-Borja, M; Munro, A; Jones, H; Cleary, M; Champion, M P; Foo, Y; Scriver, C R; Dezateux, C

    2008-01-01

    Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, the major disease phenotype in PKU. The overall birth prevalence of PKU in European, Chinese and Korean populations is approximately 1/10,000. Since the human PAH locus contains PKU-causing alleles and polymorphic core haplotypes that describe and corroborate an out-of-Africa range expansion in modern human populations, it is of interest to know the prevalence of PKU in different ethnic groups with diverse geographical origin. We estimated PKU prevalence in South East England, where a sizeable proportion of the population are of Sub-Saharan African or South Asian ancestry. Over the period 1994 to 2004 167 children were diagnosed with PKU. Using birth registration and census data to derive denominators, PKU birth prevalence per 10,000 live births (95% Bayesian credible intervals) was estimated to be 1.14 (0.96-1.33) among white, 0.11 (0.02-0.37) among black, and 0.29 (0.10-0.63) among Asian ethnic groups. This suggests that PKU is up to an order of magnitude less prevalent in populations with Sub-Saharan African and South Asian ancestry that have migrated to the UK.

  19. [Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)].

    PubMed

    Żółkowska, Joanna; Hozyasz, Kamil K; Nowacka, Maria

    2017-01-01

    Phenylketonuria (PKU) is the autosomal recessive deficiency of phenylalanine hydroxylase resulting in the accumulation of phenylalanine (Phe) in blood and in the brain. Phe restriction in a patient's diet is determined depending on the amount of Phe intake which allows for stable blood Phe levels within the therapeutic range of 120-360µmol/L. In clinical practice the empirical determination of Phe tolerance relies on frequent assessment of blood Phe concentrations in relation to Phe intake from food records. Untreated maternal PKU may lead to maternal PKU syndrome in offspring. The objective of the study was to compare Phe tolerance during the course of singleton and multiple pregnancies of PKU patients. Case subjects and methods: The cases reviewed included three sets of classical PKU-affected Polish women on a low-phenylalanine diet during the course of singleton and twin pregnancies and their PKU-unaffected newborns. All the patients were under regular supervision of a metabolic dietitian to stabilize blood Phe levels and determine Phe tolerance. Data on pregnancy weight gain, the gestational age when the diet initiated, the percent of Phe assessments < 120 µmol/L and > 360 µmol/L, as well as offspring birth measurements were analyzed. The total increase in Phe tolerance and its pattern during the course of singleton and twin pregnancies differed remarkably in each patient. Three PKU women (Q383X/R408W, EX3DEL/EX3DEL, R281L/R408W) increased their Phe tolerance in singleton and twin pregnancies by 579%/468%, 674%/261%, and 427%/236%, respectively. During the last 10 weeks of singleton and twin pregnancy Phe tolerance showed an increase by 62%/149%, 33%/64%, and 37%/40%, respectively. The analysis of predictors for Phe tolerance showed that an individual's weight gain and the fetal weight gain as estimated from liveborn birth-weight data had no predictive capacity. Individual Phe tolerance in singleton pregnancies of PKU patients does not predict tolerance in twin pregnancy. Further research on the growing population of multiple pregnancy PKU patients is necessary to provide evidence-based guidelines to optimize the treatment of PKU in females of childbearing age.

  20. Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.

    PubMed

    Dehghanian, Fatemeh; Silawi, Mohammad; Tabei, Seyed M B

    2017-02-01

    Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations. In this study, 13 unrelated classical PKU patients took part in the study detecting causative mutations. Mutations were identified by polymerase chain reaction (PCR) and direct sequencing in all patients. After that, haplotype analysis was performed by studying VNTR and PAHSTR markers (linked genetic markers of the PAH gene) through application of PCR and capillary electrophoresis (CE). Mutation analysis was performed successfully and the detected mutations were as follows: c.782G>A, c.754C>T, c.842C>G, c.113-115delTCT, c.688G>A, and c.696A>G. Additionally, PAHSTR/VNTR haplotypes were detected to discover haplotypes linked to each mutation. Mutation detection is the best approach for confirming PAH enzyme deficiency in PKU patients. Due to the relatively large size of the PAH gene and high cost of the direct sequencing in developing countries, haplotype analysis could be used before DNA sequencing and mutation detection for a faster and cheaper way via identifying probable mutated exons.

  1. Breast-feeding success among infants with phenylketonuria.

    PubMed

    Banta-Wright, Sandra A; Shelton, Kathleen C; Lowe, Nancy D; Knafl, Kathleen A; Houck, Gail M

    2012-08-01

    Breast milk is the nutrition of choice for human infants (American Academy of Pediatrics, 2005; American Association of Family Physicians, 2008; Association of Women's Health Obstetric and Neonatal Nurses, 2005; Canadian Paediatric Society, 2005; U.S. Preventive Services Task Force, 2008; World Health Organization, 2009). In comparison to standard commercial formula, human breast milk has a lower concentration of protein and a lower content of the amino acid phenylalanine (Phe). For infants with phenylketonuria (PKU), these attributes of human breast milk make it ideal as a base source of nutrition. The purpose of this study was to compare the incidence and duration of breast-feeding and corresponding Phe levels of breast-fed and formula-fed infants with PKU in the caseload of a pediatric metabolic clinic at an urban tertiary-care medical center. Charts were reviewed for infants diagnosed with PKU beginning with 2005 and ending with 1980, the year no further breast-feeding cases were identified in the PKU population. During the first year of life, most of the infants, whether breast-fed or formula-fed, had similar mean Phe levels. However, the frequency distributions revealed that more breast-fed infants with PKU had Phe levels within the normal range (120-360 μmol/L) and were less likely to have low Phe levels (<120 μmol/L) than formula-fed infants with PKU. Further research is needed to understand how mothers manage breast-feeding in the context of PKU. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Psychiatric symptoms and disorders in phenylketonuria.

    PubMed

    Brumm, V L; Bilder, D; Waisbren, S E

    2010-01-01

    Psychological and psychiatric problems are well documented across the lifespan of individuals with early-treated phenylketonuria (PKU). Early-treated children and adolescents tend to display attentional problems, school problems, lower achievement motivation, decreased social competence, decreased autonomy, and low-self-esteem. As they enter adulthood, early-treated individuals may carry forward low self-esteem and lack of autonomy but also tend to develop depressed mood, generalized anxiety, phobias, decreased positive emotions, social maturity deficits, and social isolation. The correlation between level of metabolic control and severity of symptoms suggests a biological basis of psychiatric dysfunction. Additionally, psychosocial factors such as the burden of living with a chronic illness may contribute to psychological and psychiatric outcomes in PKU. The lack of a PKU-specific psychiatric phenotype combined with the observation that not everyone with PKU is affected highlights the complexity of the problem. More research on psychiatric and psychological outcomes in PKU is required. Of particular importance is the routine monitoring of emotional, behavioral, and psychosocial symptoms in individuals with this metabolic disorder. Longitudinal studies are required to evaluate the impact of new and emerging therapies on psychiatric and psychosocial functioning in PKU. Unidentified or untreated emotional and behavioral symptoms may have a significant, lifelong impact on the quality of life and social status of patients. Copyright 2009 Elsevier Inc. All rights reserved.

  3. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU).

    PubMed

    Simon, Eva; Schwarz, Martin; Roos, Judith; Dragano, Nico; Geraedts, Max; Siegrist, Johannes; Kamp, Gudrun; Wendel, Udo

    2008-03-26

    Normal intellectual and personal development can be expected in early-diagnosed and treated PKU patients. Aim of the study was to analyse quality of life and social status, which are important parameters for an overall estimation of success of treatment apart from intellectual outcome in adult PKU patients. 67 patients completed a questionnaire on quality of life and social status. Data was compared to the German census on an age matched control collective. Quality of life measured with the Profile of Quality of Life in the Chronically Ill (PLC) revealed mean values for capacity of performance in the patient group in the same range as in the control collective. The analysis of the social state of PKU patients revealed a tendency towards lower or delayed autonomy, and a low rate of forming normal adult relationships in which to have children. Schooling and professional career corresponded approximately to the control collective. Though every chronic disorder must be regarded as restraining, it shows that PKU does not preclude healthy emotional adjustment when the disease is diagnosed early and treated well.

  4. Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.

    PubMed

    Shawky, R M; el-Aleem, K A; Rifaat, M M; el-Naggar, R L; Marzouk, G M

    2002-01-01

    Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase (PAH) system. Our work aimed to screen the PAH locus for the presence of potentially useful short tandem repeats (STR) as markers for carrier detection in PKU families in Egypt, and to determine the level of PAH heterozygosity within the Egyptian population. The system contains at least eight independent alleles in the Egyptian population, transmitted in a Mendelian fashion. Variations in the number of STR in the 16 families studied gave rise to polymorphisms that proved to be suitable markers for PKU carrier detection and prenatal diagnosis. The most frequent allelic fragment size in PKU patients was 246 bp (35.7%), which together with a fragment of 254 bp accounted for 60.7% of the mutant chromosomes.

  5. Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.

    PubMed

    Durrer, Katherine E; Allen, Michael S; Hunt von Herbing, Ione

    2017-01-01

    Phenylketonuria (PKU) is a genetic disease characterized by the inability to convert dietary phenylalanine to tyrosine by phenylalanine hydroxylase. Given the importance of gut microbes in digestion, a genetically engineered microbe could potentially degrade some ingested phenylalanine from the diet prior to absorption. To test this, a phenylalanine lyase gene from Anabaena variabilis (AvPAL) was codon-optimized and cloned into a shuttle vector for expression in Lactobacillus reuteri 100-23C (pHENOMMenal). Functional expression of AvPAL was determined in vitro, and subsequently tested in vivo in homozygous PAHenu2 (PKU model) mice. Initial trials of two PAHenu2 homozygous (PKU) mice defined conditions for freeze-drying and delivery of bacteria. Animals showed reduced blood phe within three to four days of treatment with pHENOMMenal probiotic, and blood phe concentrations remained significantly reduced (P < 0.0005) compared to untreated controls during the course of experiments. Although pHENOMMenal probiotic could be cultured from fecal samples at four months post treatment, it could no longer be cultivated from feces at eight months post treatment, indicating eventual loss of the microbe from the gut. Preliminary screens during experimentation found no immune response to AvPAL. Collectively these studies provide data for the use of a genetically engineered probiotic as a potential treatment for PKU.

  6. A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria.

    PubMed

    Bruinenberg, Vibeke M; van Vliet, Danique; Attali, Amos; de Wilde, Martijn C; Kuhn, Mirjam; van Spronsen, Francjan J; van der Zee, Eddy A

    2016-03-26

    The inherited metabolic disease phenylketonuria (PKU) is characterized by increased concentrations of phenylalanine in the blood and brain, and as a consequence neurotransmitter metabolism, white matter, and synapse functioning are affected. A specific nutrient combination (SNC) has been shown to improve synapse formation, morphology and function. This could become an interesting new nutritional approach for PKU. To assess whether treatment with SNC can affect synapses, we treated PKU mice with SNC or an isocaloric control diet and wild-type (WT) mice with an isocaloric control for 12 weeks, starting at postnatal day 31. Immunostaining for post-synaptic density protein 95 (PSD-95), a post-synaptic density marker, was carried out in the hippocampus, striatum and prefrontal cortex. Compared to WT mice on normal chow without SNC, PKU mice on the isocaloric control showed a significant reduction in PSD-95 expression in the hippocampus, specifically in the granular cell layer of the dentate gyrus, with a similar trend seen in the cornus ammonis 1 (CA1) and cornus ammonis 3 (CA3) pyramidal cell layer. No differences were found in the striatum or prefrontal cortex. PKU mice on a diet supplemented with SNC showed improved expression of PSD-95 in the hippocampus. This study gives the first indication that SNC supplementation has a positive effect on hippocampal synaptic deficits in PKU mice.

  7. Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study.

    PubMed

    Drzymała-Czyż, Sławomira; Kałużny, Łukasz; Krzyżanowska-Jankowska, Patrycja; Walkowiak, Dariusz; Mozrzymas, Renata; Walkowiak, Jarosław

    2018-01-01

    The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on the diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The amount of C14:0, C16:0 and C16:1n-7, C18:1n-9 did not differ between the analyzed groups. The percentage of C18:0 was higher, while C20:3n-9, C18:2n-6, C20:2n-6, C20:4n-6, C22:4n-6, C22:5n-6 and C22:6n-3 was lower in PKU than in HS. However, C18:3n-6, C18:3n-3 and n-6/n-3 ratio were higher in PKU patients. The C20:4n-6/C20:3n-6 ratio (reaction catalyzed by Δ5-desaturase), the C22:5n-6/C22:4n-6 and the C22:6n-3/C22:5n-3 ratio (both reactions catalyzed by Δ6 desaturase) were significantly lower in PKU patients. Therefore, the deficiency of long-chain polyunsaturated fatty acids in PKU patients may result not only from inadequate supply but also from metabolic disturbances.

  8. PKU-PET-II: A novel SiPM-based PET imaging system for small animals

    NASA Astrophysics Data System (ADS)

    Xie, Zhaoheng; Li, Suying; Zhou, Kun; Vuletic, Ivan; Meng, Xiangxi; Zhu, Sihao; Xu, Huan; Yang, Kun; Xu, Baixuan; Zhang, Jinming; Ren, Qiushi

    2018-01-01

    The objective of this study was to introduce, describe, and validate the performance of a novel preclinical silicon photomultiplier (SiPM)-based PET system (PKU-PET-II). Briefly, the detector assembly consisted of cerium-doped lutetium-yttrium oxyorthosilicate (LYSO) crystals, with dimensions of 2 ×2 ×15 mm3, that offered a 60 mm transaxial field of view (FOV) and 32 mm axial FOV, respectively. The compact front-end electronics readout and digital controller implemented architecture in the FPGA were noteworthy improvements in PKU-PET-II over its predecessor (PKU-PET-I). Based on the National Electrical Manufacturers Association (NEMA) NU 04-2008 standards, the design of the PKU-PET-II system was validated by a phantom experiment. The results presented spatial resolution (evaluated as full width at half maximum) with a system range from 1.68 ±0.07 to 2.31 ±0.03 mm at the FOV center and from 1.43 ±0.02 to 2.10 ±0.10 mm at the 1/4th axial FOV, respectively. The system's absolute sensitivity at the center position was 1.35% with the coincidence window of 6 ns and energy window of 300-700 keV. In addition, the NEMA image quality phantom and an animal study results validated the system imaging performance in preclinical imaging application. In conclusion, this SiPM-based, small-animal PET system (PKU-PET-II) provided higher-resolution, adequate sensitivity, and excellent image quality and has potential as a useful tool for real-time imaging of disease progression and development in vivo.

  9. Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing.

    PubMed

    Pinheiro de Oliveira, Felipe; Mendes, Roberta Hack; Dobbler, Priscila Thiago; Mai, Volker; Pylro, Victor Salter; Waugh, Sheldon G; Vairo, Filippo; Refosco, Lilia Farret; Roesch, Luiz Fernando Würdig; Schwartz, Ida Vanessa Doederlein

    2016-01-01

    Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions of commensal bacteria, often referred to as the gut microbiota. The composition of the gut microbiota is known to be modulated by environmental factors, including diet. In this study, we compared the gut microbiota of 8 PKU patients on Phe-restricted dietary treatment with that of 10 healthy individuals. The microbiota were characterized by 16S rRNA sequencing using the Ion Torrent™ platform. The most dominant phyla detected in both groups were Bacteroidetes and Firmicutes. PKU patients showed reduced abundance of the Clostridiaceae, Erysipelotrichaceae, and Lachnospiraceae families, Clostridiales class, Coprococcus, Dorea, Lachnospira, Odoribacter, Ruminococcus and Veillonella genera, and enrichment of Prevotella, Akkermansia, and Peptostreptococcaceae. Microbial function prediction suggested significant differences in starch/glucose and amino acid metabolism between PKU patients and controls. Together, our results suggest the presence of distinct taxonomic groups within the gut microbiome of PKU patients, which may be modulated by their plasma Phe concentration. Whether our findings represent an effect of the disease itself, or a consequence of the modified diet is unclear.

  10. Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

    PubMed Central

    Pinheiro de Oliveira, Felipe; Mendes, Roberta Hack; Dobbler, Priscila Thiago; Mai, Volker; Pylro, Victor Salter; Waugh, Sheldon G; Vairo, Filippo; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein

    2016-01-01

    Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions of commensal bacteria, often referred to as the gut microbiota. The composition of the gut microbiota is known to be modulated by environmental factors, including diet. In this study, we compared the gut microbiota of 8 PKU patients on Phe-restricted dietary treatment with that of 10 healthy individuals. The microbiota were characterized by 16S rRNA sequencing using the Ion Torrent™ platform. The most dominant phyla detected in both groups were Bacteroidetes and Firmicutes. PKU patients showed reduced abundance of the Clostridiaceae, Erysipelotrichaceae, and Lachnospiraceae families, Clostridiales class, Coprococcus, Dorea, Lachnospira, Odoribacter, Ruminococcus and Veillonella genera, and enrichment of Prevotella, Akkermansia, and Peptostreptococcaceae. Microbial function prediction suggested significant differences in starch/glucose and amino acid metabolism between PKU patients and controls. Together, our results suggest the presence of distinct taxonomic groups within the gut microbiome of PKU patients, which may be modulated by their plasma Phe concentration. Whether our findings represent an effect of the disease itself, or a consequence of the modified diet is unclear. PMID:27336782

  11. Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density.

    PubMed

    Lage, Sergio; Bueno, María; Andrade, Fernando; Prieto, José Angel; Delgado, Carmen; Legarda, María; Sanjurjo, Pablo; Aldámiz-Echevarría, Luis Jose

    2010-12-01

    Patients with phenylketonuria (PKU) undergo a restrictive vegan-like diet, with almost total absence of n-3 fatty acids, which have been proposed as potential contributors to bone formation in the healthy population. The PKU diet might lead these patients to bone mass loss and, consequently, to the development of osteopenia/osteoporosis. Therefore, we proposed to analyze their plasma fatty acid profile status and its relationship with bone health. We recruited 47 PKU patients for this cross-sectional study and divided the cohort into three age groups (6-10 years, 11-18 years, 19-42 years). We measured their plasma fatty acid profile and bone mineral density (BMD) (both at the femoral neck and the lumbar spine). Seventy-seven healthy controls also participated as reference values of plasma fatty acids. Docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) and total n-3 fatty acids were significantly diminished in PKU patients compared with healthy controls. DHA, EPA, and total n-3 fatty acids were also positively associated with bone mineral density (r = 0.83, p = 0.010; r = 0.57, p = 0.006; r = 0.73, p = 0.040, respectively). There was no association between phenylalanine (Phe), Index of Dietary Control (IDC), calcium, 25-hydroxivitamin D concentrations, daily calcium intake, and BMD. Our results suggest a possible influence of essential fatty acids over BMD in PKU patients. The lack of essential n-3 fatty acids intake in the PKU diet might affect bone mineralization. Further clinical trials are needed to confirm the effect of the n-3 essential fatty acids on bone accrual in a cohort of PKU patients.

  12. Serum ischemia modified albumin is a possible new marker of oxidative stress in phenylketonuria.

    PubMed

    Keshavarzi, Fatemeh; Rastegar, Mohsen; Vessal, Mahmood; Rafiei Dehbidi, Gholamreza; Khorsand, Marjan; Ganjkarimi, Amir Hossein; Takhshid, Mohammad Ali

    2018-06-01

    The role of oxidative stress in the pathogenesis of phenylketonuria (PKU)-associated disorders has been implicated. Ischemia modified albumin (IMA) is a modified form of serum albumin, which is produced under the conditions of oxidative stress. The aim of this study was to measure the serum level of IMA in the PKU patients and to investigate its ability in predicting the status of oxidative stress in these patients. Fifty treated-PKU patients and fifty age- and sex-matched healthy subjects were included in the study. The blood samples were obtained and the serum level of phenylalanine (Phe) was measured using reverse phase HPLC method. The levels of IMA, malondialdehyde (MDA), gamma-glutamyl transferase (GGT) activity, and uric acid (UA) were determined using colorimetric methods. The levels of serum Phe, IMA, and MDA were significantly higher (p < 0.001) and the level of UA (p < 0.05) was lower in the PKU patients compared to control group. Serum IMA level was positively correlated with MDA (r = 0.585, p < 0.001) and UA (r = 0.6, p < 0.001). An inverse relationship was observed between the serum level of IMA and Phe (r = - 0.410, p < 0. 01). Results of the present study suggest that serum IMA level could be used as a novel marker for the evaluation of oxidative stress in the PKU patients.

  13. Survey of departments of health about PKU screening programs.

    PubMed Central

    Steiner, K C; Smith, H A

    1975-01-01

    Mailed questionnaires were used to examine the success of PKU (phenylketonuria) screening programs that were operated by departments of health and to examine differences between these programs. Of 55 departments, 44 were returned and 42 departments reported they had a PKU detection program. Thirty-eight respondents considered the PKU detection program to be effective, and 31 respondents indicated that the entire program cost $60,000 or less per year. The answers and comments on the questionnaires showed a generally positive view of the effectiveness about the value of the treatment program in general were also positive. However, a few departments indicated that more clinical evidence and experience were needed to fully evaluate the overall merits of PKU detection and screening programs. PMID:803697

  14. Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil.

    PubMed

    Trevisan, Luciano Mangueira; Nalin, Tatiele; Tonon, Tassia; Veiga, Lauren Monteiro; Vargas, Paula; Krug, Bárbara Corrêa; Leivas, Paulo Gilberto Cogo; Schwartz, Ida Vanessa Doederlein

    2015-05-01

    Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001- 2010 and having as beneficiaries PKU patients requesting treatment for the disease were included. Of 20 lawsuits filed, corresponding to 16.8% of RS patients with PKU, 19 were retrieved for analysis. Of these, only two sought to obtain therapies other than metabolic formula. In all the other 17 cases, prior treatment requests had been granted by the State Department of Health. Defendants included the State (n = 19), the Union (n = 1), and municipalities (n = 4). In 18/19 cases, the courts ruled in favor of the plaintiffs. Violation of the right to health and discontinuation of State-provided treatment were the main reasons for judicial recourse. Unlike other genetic diseases, patients with PKU seek legal remedy to obtain a product already covered by the national pharmaceutical assistance policy, suggesting that management failures are a driving factor for judicialization in Brazil.

  15. Generation of urine-derived induced pluripotent stem cells from a patient with phenylketonuria

    PubMed Central

    Qi, Zijuan; Cui, Yazhou; Shi, Liang; Luan, Jing; Zhou, Xiaoyan; Han, Jinxiang

    2018-01-01

    Summary The aim of the study was to establish an induced pluripotent stem cell line from urine-derived cells (UiPSCs) from a patient with phenylketonuria (PKU) in order to provide a useful research tool with which to examine the pathology of this rare genetic metabolic disease. Urine-derived epithelial cells (UCs) from a 15-year-old male patient with PKU were isolated and reprogrammed with integration-free episomal vectors carrying an OCT4, SOX2, KLF4, and miR-302-367 cluster. PKU-UiPSCs were verified as correct using alkaline phosphatase staining. Pluripotency markers were detected with real-time PCR and flow cytometry. Promoter methylation in two pluripotent genes, NANOG and OCT4, was analyzed using bisulphite sequencing. An embryoid body (EB) formation assay was also performed. An induced pluripotent stem cell line (iPSC) was generated from epithelial cells in urine from a patient with PKU. This cell line had increased expression of stem cell biomarkers, it efficiently formed EBs, it stained positive for alkaline phosphatase (ALP), and it had a marked decrease in promoter methylation in the NANOG and OCT4 genes. The PKU-UiPSCs created here had typical characteristics and are suitable for further differentiation.

  16. Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism

    PubMed Central

    GEJÃO, Mariana Germano; FERREIRA, Amanda Tragueta; SILVA, Greyce Kelly; ANASTÁCIO-PESSAN, Fernanda da Luz; LAMÔNICA, Dionísia Aparecida Cusin

    2009-01-01

    ABSTRACT The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. It covers about 286 cities of the Bauru region and 420 collection spots. Their activities include screening, diagnosis, treatment and assistance to congenital hypothyroidism (CH) and phenylketonuria (PKU), among others. In 2005, a partnership was established with the Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, seeking to characterize and to follow, by means of research studies, the development of the communicative abilities of children with CH and PKU. Objective: The aim of this study was to describe communicative and psycholinguistic abilities in children with CH and PKU. Materials and Methods: Sixty-eight children (25 children aged 1 to 120 months with PKU and 43 children aged 1 to 60 months with CH) participated in the study. The handbooks were analyzed and different instruments were applied (Observation of Communication Behavior, Early Language Milestone Scale, Peabody Picture Vocabulary Test, Gesell & Amatruda's Behavioral Development Scale, Portage Operation Inventory, Language Development Evaluation Scale, Denver Developmental Screening Test, ABFW Child Language Test-phonology and Illinois Test of Psycholinguistic Abilities), according to the children's age group and developmental level. Results: It was observed that the children with PKU and CH at risk for alterations in their developmental abilities (motor, cognitive, linguistic, adaptive and personal-social), mainly in the first years of life. Alterations in the psycholinguistic abilities were also found, mainly after the preschool age. Attention deficits, language and cognitive alterations were more often observed in children with CH, while attention deficits with hyperactivity and alterations in the personal-social, language and motor adaptive abilities were more frequent in children with PKU. Conclusion: CH and PKU can cause communicative and psycholinguistic alterations that compromise the communication and affect the social integration and learning of these individuals, proving the need of having these abilities assisted by a speech and language pathologist. PMID:21499658

  17. Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia.

    PubMed

    Sanford, Mark; Keating, Gillian M

    2009-01-01

    Sapropterin dihydrochloride (Kuvan), hereafter referred to as sapropterin, is a synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the treatment of hyperphenylalaninaemia in patients >or=4 years of age with tetrahydrobiopterin-responsive phenylketonuria (PKU) and in adults and children with tetrahydrobiopterin deficiency who have been shown to be responsive to such treatment. In the US, it is approved to reduce blood phenylalanine levels in patients with hyperphenylalaninaemia due to tetrahydrobiopterin-responsive PKU. Oral sapropterin effectively lowers blood phenylalanine levels in a proportion of patients with PKU; to date, there are no published efficacy trials of the specific sapropterin formulation under review in patients with tetrahydrobiopterin deficiency. Sapropterin was well tolerated in patients with PKU, although longer-term tolerability data are required. Sapropterin is the first non-dietary treatment for patients with PKU that has been shown in randomized, double-blind trials to be effective in lowering blood phenylalanine levels. Thus, sapropterin provides a promising treatment option for patients with PKU who are tetrahydrobiopterin-responsive. PHARMACOLOGICAL PROPERTIES: The mechanism of action of sapropterin in lowering blood phenylalanine levels in patients with PKU has not been fully elucidated, but appears to be related, in part, to its effect in augmenting and stabilizing mutant phenylalanine hydroxylases, resulting in increased clearance of phenylalanine from the body. In tetrahydrobiopterin deficiency, its mechanism of action is presumed to be secondary to replacement of endogenous tetrahydrobiopterin. In healthy adults, orally-administered sapropterin is absorbed into the bloodstream, reaching maximum concentrations in 3-4 hours. It has a mean elimination half-life of approximately 4 hours in healthy adults and, based on a population pharmacokinetic study, 6.7 hours in patients with tetrahydrobiopterin-responsive PKU. Age, from 9 to 49 years, had no effect on key pharmacokinetic parameters. THERAPEUTIC EFFICACY: In an 8-day screening study in patients aged >or=8 years with PKU, approximately 20% of patients responded to sapropterin 10 mg/kg/day (i.e. were tetrahydrobiopterin responsive). Tetrahydrobiopterin-responsive patients from this study were entered into a randomized, double-blind, placebo-controlled trial in which they received sapropterin 10 mg/kg/day or placebo. At the end of 6 weeks of treatment, sapropterin recipients experienced a significant 28% decrease from baseline in mean blood phenylalanine level, while there was no significant change in placebo recipients. The difference in mean blood phenylalanine level between sapropterin and placebo groups was statistically significant at -245 micromol/L. In an extension of this trial, significantly greater reductions in blood phenylalanine levels were observed with sapropterin dosages of 10 and 20 mg/kg/day than with sapropterin 5 mg/kg/day (each dose administered for 2 weeks), indicating a dose dependent effect. During 12 weeks of treatment with the sapropterin dosage individualized to the patient according to the earlier response to sapropterin 5, 10 or 20 mg/kg/day, reductions in plasma phenylalanine were observed in all dosage groups. In a randomized, double-blind trial in children aged 4-12 years with tetrahydrobiopterin-responsive PKU, patients treated with sapropterin 20 mg/kg/day had reduced blood phenylalanine levels after 3 weeks of treatment. Over the full 10-week trial, sapropterin and placebo recipients experienced a significantly increased tolerance to dietary phenylalanine (20.9 mg/kg/day in sapropterin and 2.9 mg/kg/day in placebo recipients). Sapropterin was well tolerated in patients with PKU. In clinical trials in patients with PKU, the following adverse events were identified: headache, rhinorrhoea (both at a frequency of >or=10%), pharyngolaryngeal pain, nasal congestion, cough, diarrhoea, vomiting, abdominal pain and hypophenylalaninaemia (all at a frequency of >or=1% to <10%). There were no serious adverse events that were thought to be related to sapropterin treatment.

  18. PKU and the Schools: Information for Teachers, Administrators and Other School Personnel.

    ERIC Educational Resources Information Center

    Health Services Administration (DHEW/PHS), Rockville, MD. Bureau of Community Health Services.

    Designed to acquaint teachers, administrators and other school personnel with phenylketonuria (PKU - an inborn error of metabolism which requires dietary intervention), the booklet reviews school problems related to the condition. Introductory information concerns the nature, treatment, and screening and diagnosis of PKU. Diet management is…

  19. Implications of Resolving the Diagnosis of PKU for Parents and Children

    PubMed Central

    Ungerer, Judy; Wastell, Colin

    2008-01-01

    Objective To examine resolution of the diagnosis among parents of children with phenylketonuria (PKU) as a mechanism of adjustment for parents and children. Methods Reaction to diagnosis interviews were conducted with 52 mothers and 47 fathers of 55 children with PKU aged 2–12 years. The parents also completed questionnaires assessing their personal adjustment (stress symptoms), their child's adjustment (behavior problems), and coping variables (personal hopefulness and coping strategies). Results Most mothers (69%) and fathers (77%) were resolved to their child's diagnosis. Lower levels of parent stress were explained by higher personal hopefulness (14% of the variance for mothers and 21% for fathers) and resolution of the diagnosis (15% of the variance for mothers and 6% for fathers) after taking account of demographic variables and severity of the child's PKU. Parent resolution, however, did not contribute independently to the variance explained in child behavior problems after taking account of coping variables and severity of PKU. Conclusions Resolution of the diagnosis of PKU is a strong indicator of parent adjustment, and assessment of parent reactions should be considered an integral component of clinical care. Further research is warranted in relation to the implications of parent resolution for the child's response to PKU through different development stages and the effectiveness of interventions in aiding parent resolution. PMID:18339641

  20. Implications of resolving the diagnosis of PKU for parents and children.

    PubMed

    Lord, Bruce; Ungerer, Judy; Wastell, Colin

    2008-09-01

    To examine resolution of the diagnosis among parents of children with phenylketonuria (PKU) as a mechanism of adjustment for parents and children. Reaction to diagnosis interviews were conducted with 52 mothers and 47 fathers of 55 children with PKU aged 2-12 years. The parents also completed questionnaires assessing their personal adjustment (stress symptoms), their child's adjustment (behavior problems), and coping variables (personal hopefulness and coping strategies). Most mothers (69%) and fathers (77%) were resolved to their child's diagnosis. Lower levels of parent stress were explained by higher personal hopefulness (14% of the variance for mothers and 21% for fathers) and resolution of the diagnosis (15% of the variance for mothers and 6% for fathers) after taking account of demographic variables and severity of the child's PKU. Parent resolution, however, did not contribute independently to the variance explained in child behavior problems after taking account of coping variables and severity of PKU. Resolution of the diagnosis of PKU is a strong indicator of parent adjustment, and assessment of parent reactions should be considered an integral component of clinical care. Further research is warranted in relation to the implications of parent resolution for the child's response to PKU through different development stages and the effectiveness of interventions in aiding parent resolution.

  1. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.

    PubMed

    Wang, Zhen-Wen; Jiang, Shi-Wen; Zhou, Bao-Cheng

    2018-02-01

    Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron sequences of PAH were determined by Ion Torrent PGM™ sequencing. The relationship of genotype and phenotype was analyzed based on the sum of the arbitrary value (AV) values of the two alleles. We identified 61 mutations, with a frequency of 87.14%, among 70 alleles of 35 patients. The most prevalent mutations were R243Q (26.23%), R241C (9.84%) and V399V (8.20%). Furthermore, the consistency between prediction of the biochemical phenotype and the observed phenotype was 81.25%, with the highest consistency observed in classic PKU (87.50%). A significant correlation was found between pretreatment levels of phenylalanine and AV sum (r = -0.87, P < 0.05). Finally, our study constructs PAH mutation spectrum by next generation sequencing (NGS), and reveals that the PAH genotypes and biochemical phenotypes were significantly correlated. These offers facilitate the provision of appropriate genetic counseling for PKU patients. Copyright © 2017. Published by Elsevier Taiwan.

  2. Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.

    PubMed

    Hawks, Zoë W; Strube, Michael J; Johnson, Neco X; Grange, Dorothy K; White, Desirée A

    2018-01-01

    Phenylketonuria (PKU) is a hereditary disorder characterized by disrupted phenylalanine metabolism and cognitive impairment. However, the precise nature and developmental trajectory of this cognitive impairment remains unclear. The present study used a verbal fluency task to dissociate executive and verbal processes in children with PKU (n = 23; 7-18 years) and controls (n = 44; 7-19 years). Data were collected at three longitudinal timepoints over a three-year period, and the contributions of age, group, and their interaction to fluency performance were evaluated. Results indicated impairments in executive processes in children with PKU, which were exacerbated by declining metabolic control.

  3. Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar.

    PubMed

    Antshel, Kevin M; Brewster, Scott; Waisbren, Susan E

    2004-03-01

    Attribution theory, self-regulation, self-handicapping and sick role theories all suggest that children with chronic disease may be held to different standards. This study assesses child and parent attributions in pediatric chronic health conditions and addresses how attributional style may be related to treatment adherence. Four different vignettes were utilized to compare the attributional style of children with phenylketonuria (PKU) and parents of children with PKU to two comparison groups: children with other chronic medical conditions and medically healthy children. In addition, the relationship between metabolic control and attribution ratings was assessed in the PKU sample. Parents of children with medical conditions provided attributions of less child control and more stability as well as more positive affective reactions when compared to parents of healthy children. Children without a medical condition viewed childhood problems as less controllable and more stable. Mothers were more disturbed affectively by behavioral dysregulation and fathers were more disturbed by academic difficulties. In the PKU sample, the higher the phenylalanine level in the child, the more likely the parent and child alike were to attribute childhood problems to external loci of control. Attributional styles appear not to be diagnosis-specific in pediatric populations. Attributional style may be an important variable to consider when targeting treatment adherence.

  4. Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.

    PubMed

    Chen, Wei-Hsin; Hsieh, Sheau-Ling; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei

    2013-05-23

    A hospital information system (HIS) that integrates screening data and interpretation of the data is routinely requested by hospitals and parents. However, the accuracy of disease classification may be low because of the disease characteristics and the analytes used for classification. The objective of this study is to describe a system that enhanced the neonatal screening system of the Newborn Screening Center at the National Taiwan University Hospital. The system was designed and deployed according to a service-oriented architecture (SOA) framework under the Web services .NET environment. The system consists of sample collection, testing, diagnosis, evaluation, treatment, and follow-up services among collaborating hospitals. To improve the accuracy of newborn screening, machine learning and optimal feature selection mechanisms were investigated for screening newborns for inborn errors of metabolism. The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for data exchanges among heterogeneous platforms integrated by Web services in the C# language. In this study, machine learning classification was used to predict phenylketonuria (PKU), hypermethioninemia, and 3-methylcrotonyl-CoA-carboxylase (3-MCC) deficiency. The classification methods used 347,312 newborn dried blood samples collected at the Center between 2006 and 2011. Of these, 220 newborns had values over the diagnostic cutoffs (positive cases) and 1557 had values that were over the screening cutoffs but did not meet the diagnostic cutoffs (suspected cases). The original 35 analytes and the manifested features were ranked based on F score, then combinations of the top 20 ranked features were selected as input features to support vector machine (SVM) classifiers to obtain optimal feature sets. These feature sets were tested using 5-fold cross-validation and optimal models were generated. The datasets collected in year 2011 were used as predicting cases. The feature selection strategies were implemented and the optimal markers for PKU, hypermethioninemia, and 3-MCC deficiency were obtained. The results of the machine learning approach were compared with the cutoff scheme. The number of the false positive cases were reduced from 21 to 2 for PKU, from 30 to 10 for hypermethioninemia, and 209 to 46 for 3-MCC deficiency. This SOA Web service-based newborn screening system can accelerate screening procedures effectively and efficiently. An SVM learning methodology for PKU, hypermethioninemia, and 3-MCC deficiency metabolic diseases classification, including optimal feature selection strategies, is presented. By adopting the results of this study, the number of suspected cases could be reduced dramatically.

  5. Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians

    PubMed Central

    Chen, Wei-Hsin; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei

    2013-01-01

    Background A hospital information system (HIS) that integrates screening data and interpretation of the data is routinely requested by hospitals and parents. However, the accuracy of disease classification may be low because of the disease characteristics and the analytes used for classification. Objective The objective of this study is to describe a system that enhanced the neonatal screening system of the Newborn Screening Center at the National Taiwan University Hospital. The system was designed and deployed according to a service-oriented architecture (SOA) framework under the Web services .NET environment. The system consists of sample collection, testing, diagnosis, evaluation, treatment, and follow-up services among collaborating hospitals. To improve the accuracy of newborn screening, machine learning and optimal feature selection mechanisms were investigated for screening newborns for inborn errors of metabolism. Methods The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for data exchanges among heterogeneous platforms integrated by Web services in the C# language. In this study, machine learning classification was used to predict phenylketonuria (PKU), hypermethioninemia, and 3-methylcrotonyl-CoA-carboxylase (3-MCC) deficiency. The classification methods used 347,312 newborn dried blood samples collected at the Center between 2006 and 2011. Of these, 220 newborns had values over the diagnostic cutoffs (positive cases) and 1557 had values that were over the screening cutoffs but did not meet the diagnostic cutoffs (suspected cases). The original 35 analytes and the manifested features were ranked based on F score, then combinations of the top 20 ranked features were selected as input features to support vector machine (SVM) classifiers to obtain optimal feature sets. These feature sets were tested using 5-fold cross-validation and optimal models were generated. The datasets collected in year 2011 were used as predicting cases. Results The feature selection strategies were implemented and the optimal markers for PKU, hypermethioninemia, and 3-MCC deficiency were obtained. The results of the machine learning approach were compared with the cutoff scheme. The number of the false positive cases were reduced from 21 to 2 for PKU, from 30 to 10 for hypermethioninemia, and 209 to 46 for 3-MCC deficiency. Conclusions This SOA Web service–based newborn screening system can accelerate screening procedures effectively and efficiently. An SVM learning methodology for PKU, hypermethioninemia, and 3-MCC deficiency metabolic diseases classification, including optimal feature selection strategies, is presented. By adopting the results of this study, the number of suspected cases could be reduced dramatically. PMID:23702487

  6. Qualitative analysis of factors affecting adherence to the phenylketonuria diet in adolescents.

    PubMed

    Sharman, Rachael; Mulgrew, Kate; Katsikitis, Mary

    2013-01-01

    Phenylketonuria (PKU) is an inborn error of metabolism that is primarily treated with a severely restricted, low-protein diet to prevent permanent neurological damage. Despite the recognition of the importance of strict dietary adherence in the prevention of intellectual impairment in individuals with PKU, apathy and attrition from diet, especially during adolescence, remain a threat to normal development in this population. This study's aim was to examine adolescents' perception of factors that encourage or inhibit their dietary adherence. This was a qualitative study, with the authors using thematic analysis to interpret the findings. The study was conducted as part of a Metabolic Disorders Association conference. Eight adolescents with PKU were recruited through convenience sampling. A focus group was conducted with the adolescents to gather information about factors that encourage and discourage dietary adherence. Thematic analysis revealed that the adolescents encountered problems explaining the nature and food requirements of their condition to other people. Friends, family, and wanting to maintain "normal" cognitive abilities were identified as factors that encouraged dietary adherence. Adolescents with PKU appear to share several barriers and incentives for maintaining the strict dietary regimen. Considering such perceptions may aid future interventions aiming to reduce diet attrition rates among adolescents.

  7. Hepatitis virus protein X-Phenylalanine Hydroxylase fusion proteins identified in PKU mice treated with AAV-WPRE vectors

    USDA-ARS?s Scientific Manuscript database

    Utilizing the Pahenu2 mouse model for phenylketonuria (PKU), we developed an improved expression vector containing the Woodchuck Hepatitis Virus post-transcriptional regulatory element inserted into a rAAV-mPAH construct (rAAV-mPAH-WPRE) for treatment of PKU. Following portal vein delivery of these ...

  8. Food Products Made With Glycomacropeptide, a Low Phenylalanine Whey Protein, Provide a New Alternative to Amino Acid-Based Medical Foods for Nutrition Management of Phenylketonuria

    PubMed Central

    Van Calcar, Sandra C.; Ney, Denise M.

    2012-01-01

    Phenylketonuria (PKU), an inborn error in phenylalanine (phe) metabolism, requires lifelong nutrition management with a low-phe diet, which includes a phe-free amino acid-based medical formula to provide the majority of an individual’s protein needs. Compliance with this diet is often difficult for older children, adolescents and adults with PKU. The whey protein glycomacropeptide (GMP) is ideally suited for the PKU diet since it is naturally low in phe. Nutritionally complete, acceptable medical foods and beverages can be made with GMP to increase the variety of protein sources for the PKU diet. As an intact protein, GMP improves protein utilization and increases satiety compared with amino acids. Thus, GMP provides a new, more physiologic source of low-phe dietary protein for those with PKU. PMID:22818728

  9. [The maternal phenylketonuria syndrom--still current problem].

    PubMed

    Didycz, Bozena; Domagała, Lucyna; Pietrzyk, Jacek J

    2009-01-01

    Phenylketonuria (OMIM 261600) is a congenital genetically conditioned error of metabolism phenylalanine to tyrosine. Being untreated or insufficiently treated phenylketonuria (PKU) sometimes leads to irreversible damage of mielin. Similarly, high phenylalanine concentration in the blood of pregnant woman with PKU exert the teratogenic effect on growing and developing foetus (in the majority of cases being the carrier of PKU), which leads to appearance of maternal phenylketonuria syndrom (MPKU syndrom). The features of MPKU syndrome consist: low weight at birth, the congenital heart defects, digestive tract defects, osseous arrangements, microcephaly, handicap of intellectual development. Spontaneous miscarriages at pregnant women with PKU are more often. the evaluation of influence hyperphenylalaninemia of pregnant woman with PKU on her foetus, depending on the metabolic control in the pre- and postconception period. under the care of Outpatient Metabolic Clinic of University Children's Hospital in Cracow remain 430 patients aged from 0 to 56 years with hyperphenylalaninemia. In the register of Outpatient Metabolic Clinic there are the data about 50 pregnancies of 21 women with hyperphylalaninemia (from mild hyperphenylalaninemia to classic PKU). Only 10 pregnancies were planned - the low-phenylalanine diet was obligatory introduced 3 months before conception and was applied throughout the whole period of pregnancy in order to maintain the levels of phenylalanine in the range of 2 to 6 mg/dl. One pregnancy finished with spontaneous miscarriage, the other 9- the birth of healthy offspring. By contrast, out of 40 unplanned pregnancies 8 ended in spontaneous miscarriage, and of the remaining 32 unplanned pregnancies 33 children were born: 24 (75%) newborns with the maternal PKU features, 1 child died during thel-st year of life, 3 have the lack of any data, and only 5 (15.6%) children were born clinically healthy (1 twin birth). Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child. Among the children, born from unplanned pregnancies, there are two (twins), whose mother from the 6 week of gestation had returned to applying diet (average phe levels 6.37 mg/dl); two children of mothers who were conducting the therapeutic implemented since 18-th and 32-th weeks of gestation (average phe 7.5 mg/dl) (there is the lack of detailed data about these children, because the women are never reported to our Outpatient Clinic), and one child, whose mother raised and began the therapy from 12-th week of gestation (average phe levels 10.37 mg/dl), who presents the features of ADHD syndrome. 1. All pregnancies of women with hyperphenylalaninemia should be planned to avoid the complications in the form of maternal PKU syndrom. 2. It is essential to educate the women with PKU and their families about the problems concerning maternal PKU. 3. It is also necessary to inform pediatricians, family physicians and gynaecologists-obstetricians about the features of maternal PKU syndrom.

  10. Longitudinal modelling of the exposure of young UK patients with PKU to acesulfame K and sucralose.

    PubMed

    O'Sullivan, Aaron J; Pigat, Sandrine; O'Mahony, Cian; Gibney, Michael J; McKevitt, Aideen I

    2017-11-01

    Artificial sweeteners are used in protein substitutes intended for the dietary management of inborn errors of metabolism (phenylketonuria, PKU) to improve the variety of medical foods available to patients and ensure dietary adherence to the prescribed course of dietary management. These patients can be exposed to artificial sweeteners from the combination of free and prescribed foods. Young children have a higher risk of exceeding acceptable daily intakes (ADI) for additives than adults, due to higher food intakes per kg body weight. Young patients with PKU aged 1-3 years can be exposed to higher levels of artificial sweeteners from these dual sources than normal healthy children and are at a higher risk of exceeding the ADI. Standard intake assessment methods are not adequate to assess the additive exposure of young patients with PKU. The aim of this study was to estimate the combination effect on the intake of artificial sweeteners and the impact of the introduction of new provisions for an artificial sweetener (sucralose, E955) on exposure of PKU patients using a validated probabilistic model. Food consumption data were derived from the food consumption survey data of healthy young children in the United Kingdom from the National Diet and Nutrition Survey (NDNS, 1992-2012). Specially formulated protein substitutes as foods for special medical purposes (FSMPs) were included in the exposure model to replace restricted foods. Inclusion of these protein substitutes is based on recommendations to ensure adequate protein intake in these patients. Exposure assessment results indicated the availability of sucralose for use in FSMPs for PKU leads to changes in intakes in young patients. These data further support the viability of probabilistic modelling as a means to estimate food additive exposure in patients consuming medical nutrition products.

  11. Efficient production of triacylglycerols rich in docosahexaenoic acid (DHA) by osmo-heterotrophic marine protists.

    PubMed

    Liu, Ying; Tang, Jie; Li, Jingjing; Daroch, Maurycy; Cheng, Jay J

    2014-12-01

    Thraustochytrids have recently emerged as a promising source for docosahexaenoic acid (DHA) production due to their high growth rate and oil content. In this study, two thraustochytrid isolates, Aurantiochytrium sp. PKU#SW7 and Thraustochytriidae sp. PKU#Mn16 were used for DHA production. Following growth parameters were optimized to maximize DHA production: temperature, pH, salinity, and glucose concentration. Both isolates achieved the highest DHA yield at the cultivation temperature of 28 °C, pH 6, 100 % seawater, and 2 % glucose. A DHA yield of 1.395 g/l and 1.426 g/l was achieved under the optimized culture conditions. Further investigation revealed that both isolates possess simple fatty acids profiles with palmitic acid and DHA as their dominant constituents, accounting for ∼79 % of total fatty acids. To date, very few studies have focused on the DHA distribution in various lipid fractions which is an important factor for identifying strains with a potential for industrial DHA production. In the present study, the lipids profiles of each strain both revealed that the majority of DHA was distributed in neutral lipids (NLs), and the DHA distribution in NLs of PKU#SW7 was exclusively in the form of triacylglycerols (TAGs) which suggest that PKU#SW7 could be utilized as an alternative source of DHA for dietary supplements. The fermentation process established for both strains also indicating that Aurantiochytrium sp. PKU#SW7 was more suitable for cultivation in fermenter. In addition, the high percentage of saturated fatty acids produced by the two thraustochytrids indicates their potential application in biodiesel production. Overall, our findings suggest that two thraustochytrid isolates are suitable candidates for biotechnological applications.

  12. Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation.

    PubMed

    Zagreda, L; Goodman, J; Druin, D P; McDonald, D; Diamond, A

    1999-07-15

    Phenylalanine hydroxylase (Pah)-deficient "PKU mice" have a mutation in the Pah gene that causes phenylketonuria (PKU) in humans. PKU produces cognitive deficits in humans if it is untreated. We report here the first evidence that the genetic mouse model of PKU (Pah(enu2)) also produces cognitive impairments. PKU mice were impaired on both odor discrimination reversal and latent learning compared with heterozygote littermates and with wild-type mice of the same BTBR strain. A small container of cinnamon-scented sand was presented on the right or left, and nutmeg-scented sand was presented on the other side; left-right location varied over trials. Digging in sand of the correct scent was rewarded by finding phenylalanine-free chocolate. To prevent scent cuing, new containers were used on every trial, and both containers always contained chocolate. Digging in the incorrect choice was stopped before the chocolate was uncovered. Once criterion was reached, the other scent was rewarded. PKU mice were impaired on reversals 2, 3, and 4. They were also impaired in latent learning. On day 1, half the mice were allowed to explore a maze and discover the location of water. On day 2, all mice were water-deprived and were placed in the maze. Whereas pre-exposed wild-type and heterozygous mice showed evidence that they remembered the location of the water and hence could find the water faster on day 2, pre-exposed PKU mice showed no significant benefit from their pre-exposure on day 1.

  13. Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry.

    PubMed

    Peat, Judy; Garg, Uttam

    2016-01-01

    Hyperphenylalaninemia/phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism affecting about 1:15,000 infants in the United States. PKU is an autosomal recessive disorder that if untreated results in mental retardation. The most common cause of PKU is deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine to tyrosine. Tyrosine deficiency results in impaired synthesis of catecholamines and thyroxine. Less commonly, it can result from defects in the synthesis or regeneration of tetrahydrobiopterin (BH4), an essential cofactor for the enzyme phenylalanine hydroxylase. Increased phenylalanine and decreased tyrosine in blood are used in the diagnosis and follow-up of patients with PKU. LC/MS/MS method is described for the quantification of phenylalanine and tyrosine.

  14. Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.

    PubMed

    Shaw-Smith, C; Hogg, S L; Reading, R; Calvin, J; Trump, D

    2004-09-01

    Universal screening introduced in the 1960s has reduced the incidence of learning disability resulting from phenylketonuria (PKU), which is a treatable condition. Nonetheless, PKU may still be having an impact on the paediatric-age population. We report a woman with previously undiagnosed PKU who was born before the onset of universal screening. She is of normal intelligence, and so the diagnosis was not suspected until after the birth of her three children. Her serum phenylalanine concentration was found to be in excess of 1 mmol/L, well into the toxic range. She has had three sons, all of whom have a significant degree of learning disability resulting from intrauterine exposure to toxic levels of phenylalanine. None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis. We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.

  15. Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.

    PubMed

    Pinto, A; Almeida, M F; Ramos, P C; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; MacDonald, A; Rocha, J C

    2017-10-01

    Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP. Eleven PKU patients aged 27±10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews. The mean time taking AA was 13±5 months and GMP 13±7 months. Blood phenylalanine (PHE) and tyrosine (TYR) were analysed before and after GMP introduction. Both GMP and AA protein substitutes provided similar protein equivalent intake (0.85 vs 0.75 g/kg/day, P=0.182). In the GMP group, it contributed 57% (27-100%) of the protein substitute intake (with AA delivering the rest of protein substitute intake), providing an additional 34±12 mg/day PHE. Nutritional intake, anthropometry and body composition measurements were similar in both the groups. Median blood PHE did not change (P=0.594), although values within target range improved (36 vs 46%), but this was not statistically significant. Mean blood TYR increased (52.0±19.2 vs 63.2±25.6 μmol/l, P=0.033), and all biochemical markers remained stable, except for a lower A1C haemoglobin (P=0.011). Partial GMP contribution to total protein substitute intake did not affect nutritional status in patients with PKU. Blood PHE control was not adversely affected. The increased blood TYR after GMP introduction necessitates further study.

  16. New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.

    PubMed

    Klaassen, Kristel; Stankovic, Biljana; Kotur, Nikola; Djordjevic, Maja; Zukic, Branka; Nikcevic, Gordana; Ugrin, Milena; Spasovski, Vesna; Srzentic, Sanja; Pavlovic, Sonja; Stojiljkovic, Maja

    2017-02-01

    Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene regions to assess their possible influence on the PKU phenotype. We transiently transfected HepG2 cells with various chloramphenicol acetyl transferase (CAT) reporter constructs which included PAH gene non-coding regions. Selected non-coding regions were indicated by in silico prediction to contain transcription factor binding sites. Furthermore, electrophoretic mobility shift assay (EMSA) and supershift assays were performed to identify which transcriptional factors were engaged in the interaction. We found novel KLF1 motif in the PAH promoter, which decreases CAT activity by 50 % in comparison to basal transcription in vitro. The cytosine at the c.-170 promoter position creates an additional binding site for the protein complex involving KLF1 transcription factor. Moreover, we assessed for the first time the role of a multivariant variable number tandem repeat (VNTR) region located in the 3'-region of the PAH gene. We found that the VNTR3, VNTR7 and VNTR8 constructs had approximately 60 % of CAT activity. The regulation is mediated by the C/EBPalpha transcription factor, present in protein complex binding to VNTR3. Our study highlighted two novel promoter KLF1 and 3'-region C/EBPalpha motifs in the PAH gene which decrease transcription in vitro and, thus, could be considered as PAH expression modifiers. New transcription motifs in non-coding regions will contribute to better understanding of the PKU phenotype complexity and may become important for the optimisation of PKU treatment.

  17. Serum phenylalanine screening

    MedlinePlus

    ... phenylalanine. If PKU is not detected early, increasing phenylalanine levels in the baby will cause intellectual disability. When discovered early, changes in the diet can help prevent the severe side effects of PKU.

  18. [A Comprehensive Care System for Children with Anorexia Nervosa in Pediatric Practice].

    PubMed

    Watanabe, Hisako

    2015-01-01

    Against the backdrop of rapid industrialization and westernization after the World War II, there has been an ever increasing number of children with anorexia nervosa (AN) in pediatric practice, making it one of the most common diseases in children. With a severe lack of AN specialists in Japan, pediatricians need to face the daunting task of treating AN on their own. Malnutrition overlooked during periods of growth and development yields a risk of death, growth disturbance and an intractable conditions with secondary disorders of brain atrophy, osteoporosis, infertility, maltreatment and childrearing failures, mental disorders and others, which can last for life. Prevention is the best and a must for AN, and an early detection and treatment need to be in place to mitigate its progress and aggravation. It is crucial that an effective care is provided in early, treatable stage to assist the patient back to a healthy developmental trajectory. In 1993, the Department of Pediatrics, School of Medicine, Keio University (hereafter PKU) appointed a child psychiatrist as its fulltime staff and has included inpatient treatment of AN as a compulsory item of its postgraduate training program. Over the past twenty years, PKU has developed a comprehensive treatment system of AN (Scientific Report of Ministry of Welfare and Labor 2006). In the primary care of AN, a screening tool using simple physical measurement of weight on growth chart combined with pulse proves effective. When a weight on growth chart reveals an unhealthy weight loss and is combined with bradycardia, it detects AN at sensitivity of 83% and specificity of 93%. In the secondary care of AN, 40 pediatric institutions affiliated with PKU implemented early treatment of AN with the support of the Mental Health Division of PKU. In the tertiary care for severely emaciated AN patients, an around-the-clock intensive treatment program, called Anorexia Nervosa Intensive Care Unit (ANICU) was instituted. The gist of ANICU is to enhance the patient's awareness of the danger of catabolism and her incentive to overcome AN through active commitment to the treatment. This treatment program harbors principles of integrity, structure and persistence; starting with a complete bed rest and regular small-step provision of nutrition and steady enhancement of daily activities, it steadily and systematically converts the body's metabolism from catabolism to anabolism. In this treatment program, more than one hundred patients' lives were saved without a single fatal case. Trainees in PKU were provided with firsthand experience of providing comprehensive care, including taking on a role of feeding the AN patients three times a day. Around three hundred trainees were trained at PKU over the past twenty years, many of whom now treat AN in their affiliated hospitals. This collaborative care, comprised of a pediatric team, family and school, supported by a specialist, will become the most reliable way of treating AN in the coming days. We hope to decrease the sufferings of children with AN through spreading this comprehensive care system for children with AN in Japan.

  19. Effect of dietary aspartame on plasma concentrations of phenylalanine and tyrosine in normal and homozygous phenylketonuric patients.

    PubMed

    Mackey, S A; Berlin, C M

    1992-07-01

    Six normal subjects each ingested a single 12-oz can of a diet cola (Diet Coke) providing 184 mg aspartame (APM), of which 104 mg is phenylalanine (Phe), and, on another occasion, a single 12-oz can of regular cola (Coke Classic). Neither cola significantly affected plasma concentrations of Phe or tyrosine over the three-hour postingestion study period. Each of five homozygous phenylketonuric (PKU) subjects (ages 11, 16, 17, 21, and 23 years) ingested a single 12-oz can of the same diet cola. In these five subjects (three with classic PKU and two with hyperphenylalinemia), the increase in plasma Phe concentrations varied from 0.26 mg/dL to 1.77 mg/dL two or three hours after ingestion (baseline levels, 5.04 to 17.2 mg/dL). Tyrosine concentrations did not differ significantly from baseline levels. The data indicate that ingestion of dietary Phe, as supplied in a single can of diet cola, is readily handled in both normal and PKU subjects. The small increases in plasma Phe concentrations in the homozygous PKU patients are not considered clinically significant.

  20. Adult phenylketonuria outcome and management.

    PubMed

    Trefz, F; Maillot, F; Motzfeldt, K; Schwarz, M

    2011-01-01

    The problem to evaluate treatment outcome in adult PKU (phenylketonuric) patients lies in the heterogeneity of the adult PKU population. This heterogeneity is not only based on the different treatment history of every individual patient but also on the different severity of the underlying defect of the enzyme phenylalanine hydroxylase. Recent, partly double blind studies in adult PKU patients further support recommendation for lifelong treatment. However, it has become evident that dietary treatment is suboptimal and continuation to adulthood often not accepted. Late detected PKU patients (up to 4-6 years of age) benefit from strict dietary treatment and are able to catch up in intellectual performance. Untreated, severely retarded patients with behavioral changes may benefit from introduction of dietary treatment. However, individual decision is necessary and based on the personal situation of the patient. In early and well treated patients a number of studies have demonstrated that cognitive and neurosychologic tests are different from controls. In addition there is evidence that patients with higher blood phenylalanine (phe) levels demonstrate more often psychiatric symptoms like depression and anxiety. Medical problems are more often observed: there are certain risks as impaired growth, decreased bone mineral density and nutrional deficits probably caused by dietary treatment with an artificial protein substitute and/or missing compliance with an unpleasant diet. The long term risk of a strict dietary treatment must be balanced with the risk of higher blood phe (mean blood phenylalanine >600-900 μmol/L) on cognitive and neuropsychological functions and psychiatric symptoms. Further studies should consider the role of blood phe exposure for brain development in childhood and for brain function in all ages. Besides mean blood phe, fluctuation of blood phe over time is important. Fluctuation of blood phe is decreased by sapropterin treatment in responsive patients which would on the long term may have positive effects on cognitive outcome. Further studies also should include adult PKU patients. Copyright © 2011 Elsevier Inc. All rights reserved.

  1. Phenylketonuria (PKU)

    MedlinePlus

    ... less common among people of African, Hispanic, or Asian ancestry. 3 NICHD. (2000, updated 2006). Report of the NIH consensus development conference on phenylketonuria (PKU): Screening and management . Retrieved May 15, 2012, from http://www.nichd. ...

  2. What Are Common Symptoms of Phenylketonuria (PKU)?

    MedlinePlus

    ... If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and ... skin that is a result of the extra phenylalanine in the body Fair skin and blue eyes, ...

  3. National PKU News

    MedlinePlus

    ... Enter your email for our monthly newsletter * Need books? Our pocket books are great reference tools for caregivers, relatives, and ... quick reference in your desk at work. Baby Books are provided free to all newborn PKU patients ...

  4. [Phenylketonuria diagnosed during the neonatal period and breast feeding].

    PubMed

    Cornejo, Verónica; Manríquez, Viviana; Colombo, Marta; Mabe, Paulina; Jiménez, Mónica; De la Parra, Alicia; Valiente, Alf; Raimann, Erna

    2003-11-01

    Phenylketonuria (PKU) is due to of a defect in the phenylalanine hydroxylase gene (12q22-24.1) leading to hyperphenylalaninemia. Treatment consists in a low phenylalanine (Phe) diet. To evaluate the evolution of early diagnosed PKU children, receiving direct breast feeding, and a special formula without Phe, during their first six months of life. Nineteen PKU children diagnosed in the neonatal period (19.29 +/- 13.8 days of age), treated with breast feeding and formula without Phe since diagnosis, were studied. Intake of calories, proteins and dietary Phe were quantified. Blood Phe, nutritional status and psychomotor development were also measured. The diet that these children received during the 6 months period of study, had a mean of 127 +/- 19.9 Kcal/kg/day, 1.95 +/- 0.3 g protein/kg/day and 35.3 +/- 9.5 mg Phe/kg/day. Fifteen children maintained the blood level of Phe under 8 mg/dl, considered an excellent metabolic control. Only 4 cases had intermittently high levels, between 10-12 mg/dl. At 6 months of age, 74% of the children maintained breast feeding as the only source of Phe. Sixty three percent had a normal nutritional status, 5.2% were at nutritional risk and 31.6% were overweight. Eighty one percent had a normal mental development. The use of direct breast feeding allows a good metabolic control and improves growth and development of early diagnosed PKU children.

  5. Essentials of PKU for Young Adults with PKU and Their Significant Others

    MedlinePlus

    ... 2* and measured amounts of fruits, vegetables, bread, pasta and cereals. Many foods must be eliminated from ... of the diet is low protein breads and pastas. They are nearly free of phenylalanine, allow greater ...

  6. A Simple Network to Remove Interference in Surface EMG Signal from Single Gene Affected Phenylketonuria Patients for Proper Diagnosis

    NASA Astrophysics Data System (ADS)

    Mohanty, Madhusmita; Basu, Mousumi; Pattanayak, Deba Narayan; Mohapatra, Sumant Kumar

    2018-04-01

    Recently Autosomal Recessive Single Gene (ARSG) diseases are highly effective to the children within the age of 5-10 years. One of the most ARSG disease is a Phenylketonuria (PKU). This single gene disease is associated with mutations in the gene that encodes the enzyme phenylalanine hydroxylase (PAH, Gene 612349). Through this mutation process, PAH of the gene affected patient can not properly manufacture PAH as a result the patients suffer from decreased muscle tone which shows abnormality in EMG signal. Here the extraction of the quality of the PKU affected EMG (PKU-EMG) signal is a keen interest, so it is highly necessary to remove the added ECG signal as well as the biological and instrumental noises. In the Present paper we proposed a method for detection and classification of the PKU affected EMG signal. Here Discrete Wavelet Transformation is implemented for extraction of the features of the PKU affected EMG signal. Adaptive Neuro-Fuzzy Inference System (ANFIS) network is used for the classification of the signal. Modified Particle Swarm Optimization (MPSO) and Modified Genetic Algorithm (MGA) are used to train the ANFIS network. Simulation result shows that the proposed method gives better performance as compared to existing approaches. Also it gives better accuracy of 98.02% for the detection of PKU-EMG signal. The advantages of the proposed model is to use MGA and MPSO to train the parameters of ANFIS network for classification of ECG and EMG signal of PKU affected patients. The proposed method obtained the high SNR (18.13 ± 0.36 dB), SNR (0.52 ± 1.62 dB), RE (0.02 ± 0.32), MSE (0.64 ± 2.01), CC (0.99 ± 0.02), RMSE (0.75 ± 0.35) and MFRE (0.01 ± 0.02), RMSE (0.75 ± 0.35) and MFRE (0.01 ± 0.02). From authors knowledge, this is the first time a composite method is used for diagnosis of PKU affected patients. The accuracy (98.02%), sensitivity (100%) and specificity (98.59%) helps for proper clinical treatment. It can help for readers/researchers to improve the aforesaid performance for future prospective.

  7. Predictive modelling of the exposure to steviol glycosides in Irish patients aged 1-3 years with phenylketonuria and cow's milk protein allergy.

    PubMed

    O'Sullivan, Aaron J; Pigat, Sandrine; O'Mahony, Cian; Gibney, Michael J; McKevitt, Aideen I

    2018-01-01

    Children with Phenylketonuria (PKU) and severe cow's milk protein allergy (CMPA) consume prescribed, specially formulated, foods for special medical purposes (FSMPs) as well as restricted amounts of normal foods. These patients are exposed to artificial sweeteners from the consumption of a combination of free and prescribed foods. Young patients with PKU and CMPA have a higher risk of exceeding acceptable daily intakes (ADI) for additives than age-matched healthy children. A predictive modelling approach has been adapted successfully to assess the additive exposure of young patients with PKU and CMPA to artificial sweeteners. Steviol glycosides (E960) are at various stages of regulatory approval for the various food categories in the EU but are not as yet permitted for use in products intended for young children. The aim of this study was to predict potential steviol glycoside exposure in young children with PKU and CMPA considering the potential for future provisions for the use of this sweetener. The recent introduction of steviol glycosides means that no exposure data are available for children with CMPA and PKU. Food consumption data were derived from the food consumption survey data of healthy young children in Ireland from the National Preschool and Nutrition Survey (NPNS, 2010-11). Specially formulated amino acid-based FSMPs are used to replace whole or milk protein foods and were included in the exposure model to replace restricted foods. The recommendations to ensure adequate protein intake in these patients were used to determine FSMP intake. Exposure assessment results indicated that the maximum permitted level (MPL) for FSMPs would warrant careful consideration to avoid exposures above the ADI. These data can be used to inform recommendations for the medical nutrition industry.

  8. OMEGA-3 LONG-CHAIN POLYUNSATURATED FATTY ACIDS IN OLDER CHILDREN

    USDA-ARS?s Scientific Manuscript database

    Phenylketonuria (PKU), the most prevalent inborn error of metabolism, is usually secondary to low hepatic activity of phenylalanine hydroxylase, the enzyme that catalyzes conversion of phenylalanine to tyrosine. Growth and development of infants and children with PKU who are managed by mandatory n...

  9. Management of Newborn Infants with Phenylketonuria.

    ERIC Educational Resources Information Center

    Health Services Administration (DHEW/PHS), Rockville, MD. Bureau of Community Health Services.

    The booklet covers the identification, diagnosis, and clinical treatment of newborns with Phenylketonuria (PKU), an inborn error of metabolism, which, if untreated, can lead to mental retardation. An initial section considers biochemical and genetic factors of PKU including a diagram of aromatic amino acid hydroxylation systems. Screening…

  10. Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism

    PubMed Central

    De Jaco, Antonella; Mango, Dalila; De Angelis, Federica; Favaloro, Flores Lietta; Andolina, Diego; Nisticò, Robert; Fiori, Elena; Colamartino, Marco; Pascucci, Tiziana

    2017-01-01

    Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia and variable neurological and cognitive impairments. Among the potential pathophysiological mechanisms implicated in autism spectrum disorders is the excitation/inhibition (E/I) imbalance which might result from alterations in excitatory/inhibitory synapse development, synaptic transmission and plasticity, downstream signalling pathways, and intrinsic neuronal excitability. Here, we investigated functional and molecular alterations in the prefrontal cortex (pFC) of BTBR-Pahenu2 (ENU2) mice, the animal model of PKU. Our data show higher frequency of inhibitory transmissions and significant reduced frequency of excitatory transmissions in the PKU-affected mice in comparison to wild type. Moreover, in the pFC of ENU2 mice, we reported higher levels of the post-synaptic cell-adhesion proteins neuroligin1 and 2. Altogether, our data point toward an imbalance in the E/I neurotransmission favouring inhibition in the pFC of ENU2 mice, along with alterations of the molecular components involved in the organization of cortical synapse. In addition to being the first evidence of E/I imbalance within cortical areas of a mouse model of PKU, our study provides further evidence of E/I imbalance in animal models of pathology associated with autism spectrum disorders. PMID:28468253

  11. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care.

    PubMed

    Camfield, Carol S; Joseph, Marissa; Hurley, Teresa; Campbell, Karen; Sanderson, Susan; Camfield, Peter R

    2004-07-01

    To compare phenylketonuria (PKU) management by a centralized, expert team in the Province of Nova Scotia (NS) with the decentralized approach in New Brunswick (NB). Retrospective chart review documented frequency of outpatient visits, phenylalanine (Phe) concentration, and medical formula use. Structured telephone interviews with the 8 regional NB dietitians (NB-D) documented their knowledge and support in PKU management. Patients with PKU (n=108; age, birth to 42 years) reside in NB (n=69) and NS (n=39). More were lost to contact in NB than in NS (9/69 vs 1/39) and more were completely off diet in NB than in NS (24/60 vs 1/38, P=.05). All 15 children <2 years old followed by a PKU team in either NS or Saint John, NB had optimal Phe levels. Children 2 to 12 years of age in NS had better Phe control and more medical visits than in NB (P <.01). Older patients had more episodes of elevated Phe levels (P=.01). Formula was dispensed in appropriate yearly amounts to 52% in NB and >95% in NS. Mental handicap or borderline intelligence was common in both NB (44%) and NS (42%). All NB-D wished additional specialized medical, nursing, or social work assistance. PKU management appears to be more effective with an expert, coordinated team approach.

  12. How Do Health Care Providers Diagnose Phenylketonuria (PKU)?

    MedlinePlus

    ... born with PKU. To perform this test, a health care provider takes some cells, either through a needle inserted into the abdomen or a small tube inserted into the vagina. A genetic counselor who understands the risks and benefits of genetic testing can help explain the choices available for testing. ...

  13. Intense beams from gases generated by a permanent magnet ECR ion source at PKU.

    PubMed

    Ren, H T; Peng, S X; Lu, P N; Yan, S; Zhou, Q F; Zhao, J; Yuan, Z X; Guo, Z Y; Chen, J E

    2012-02-01

    An electron cyclotron resonance (ECR) ion source is designed for the production of high-current ion beams of various gaseous elements. At the Peking University (PKU), the primary study is focused on developing suitable permanent magnet ECR ion sources (PMECRs) for separated function radio frequency quadrupole (SFRFQ) accelerator and for Peking University Neutron Imaging Facility. Recently, other kinds of high-intensity ion beams are required for new acceleration structure demonstration, simulation of fusion reactor material irradiation, aviation bearing modification, and other applications. So we expanded the ion beam category from O(+), H(+), and D(+) to N(+), Ar(+), and He(+). Up to now, about 120 mA of H(+), 83 mA of D(+), 50 mA of O(+), 63 mA of N(+), 70 mA of Ar(+), and 65 mA of He(+) extracted at 50 kV through a φ 6 mm aperture were produced by the PMECRs at PKU. Their rms emittances are less than 0.2 π mm mrad. Tungsten samples were irradiated by H(+) or He(+) beam extracted from this ion source and H∕He holes and bubbles have been observed on the samples. A method to produce a high intensity H∕He mixed beam to study synergistic effect is developed for nuclear material irradiation. To design a He(+) beam injector for coupled radio frequency quadruple and SFRFQ cavity, He(+) beam transmission experiments were carried out on PKU low energy beam transport test bench and the transmission was less than 50%. It indicated that some electrode modifications must be done to decrease the divergence of He(+) beam.

  14. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.

    PubMed

    Nielsen, Jytte Bieber; Nielsen, Karin E; Güttler, Flemming

    2010-02-01

    Phenylketonuria (PKU) is an inherited metabolic disease characterized by phenylalanine (Phe) accumulation due to defects in the enzyme phenylalanine hydroxylase (PAH). Phe accumulation can lead to cognitive impairment. Some individuals with PKU respond to tetrahydrobiopterin (BH4) treatment, the natural cofactor of PAH, by a reduction in blood Phe concentrations.We tested 12 patients with PKU, 8-29 years of age, all carrying the common Y414C mutation in the PAH gene. Three were homozygous and nine were compound heterozygous, with the second mutation being a putative null mutation. During the study period, genuine protein was increased to approximately 1 g/kg. The patients were treated with 20, 10, and 5 mg BH4/kg/day for 1 week on each dose, starting with 20 mg/kg. A positive response was defined as a decline in blood Phe>30%. Blood Phe was measured four times a week. Nonresponding children were excluded from the study. Eleven of 12 patients had a positive response with 20 mg/kg, 5/10 responded on 10 mg/kg, and 1/9 on 5 mg/kg. Two were late responders, with a response on 20 mg/kg after >48 h. We could confirm the previously reported inconsistent responsiveness of Y414C in the nine heterozygous patients, whereas the three homozygous patients had early median Phe declines of 73%, 51%, and 27%, respectively, on the three different doses. The varying responses despite uniform trial conditions and genotypes may be due to individual differences in BH4 absorption or metabolism. No side effects were observed.

  15. Metabolic syndrome in children and adolescents with phenylketonuria.

    PubMed

    Kanufre, Viviane C; Soares, Rosângelis D L; Alves, Michelle Rosa A; Aguiar, Marcos J B; Starling, Ana Lúcia P; Norton, Rocksane C

    2015-01-01

    This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  16. Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.

    PubMed

    Alibakhshi, Reza; Moradi, Keivan; Biglari, Mostafa; Shafieenia, Samaneh

    2018-05-01

    Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase ( PAH ) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequence analysis of all 13 exons and their flanking intronic regions of the PAH gene was performed in 18 western Iranian PKU patients. Moreover, a variable number of tandem repeat (VNTR) located in the PAH gene was studied. The results revealed a mutational spectrum encompassing 11 distinct mutations distributed along the PAH gene sequence on 34 of the 36 mutant alleles (diagnostic efficiency of 94.4%). Also, four PAH VNTR alleles (with repeats of 3, 7, 8 and 9) were detected. The three most frequent mutations were IVS9+5G>A, IVS7-5T>C, and p.P281L with the frequency of 27.8%, 11%, and 11%, respectively. The results showed that there is not only a consanguineous relation, but also a difference in PAH characters of mutations between Kermanshah and the other two parts of western Iran (Hamadan and Lorestan). Also, it seems that the spectrum of mutations in western Iran is relatively distinct from other parts of the country, suggesting that this region might be a special PAH gene distribution region. Moreover, our findings can be useful in the identification of genotype to phenotype relationship in patients, and provide future abilities for confirmatory diagnostic testing, prognosis, and predict the severity of PKU patients.

  17. Education of Students with Phenylketonuria (PKU): Information for Teachers, Administrators and Other School Personnel.

    ERIC Educational Resources Information Center

    National Inst. of Child Health and Human Development (NIH), Bethesda, MD.

    This booklet summarizes current knowledge about phenylketonuria (PKU), an inherited condition that results in severe mental retardation if untreated, and discusses the psychoeducational implications of the condition. The introduction stresses the importance of early diagnosis (during the first days of life) and the effectiveness of a diet that…

  18. Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies.

    PubMed Central

    Waisbren, S E; Shiloh, S; St James, P; Levy, H L

    1991-01-01

    BACKGROUND. Women with phenylketonuria (PKU) not treated prior to conception can have a pregnancy that results in serious fetal damage. In this report, factors associated with preventing unplanned (and hence late treated) pregnancies are described. METHODS. Subjects included 60 phenylketonuric women and two comparison groups composed of female acquaintances and diabetic women. All were interviewed and administered tests of intelligence, general well-being, knowledge, and personality. RESULTS. Thirty-five percent of the sexually active women with PKU used contraception only sporadically. The variables that best predicted reported frequency of birth control use were the extent to which women felt social support to use contraception (r = .64) along with positive attitudes about birth control (r = .66) and knowledge of family planning (r = .43). For the comparison groups, a different pattern of variables predicted contraceptive use, with locus of control figuring most prominently for the diabetics (r = .39) and social support for birth control being most important for the acquaintances (r = .46). CONCLUSIONS. As more girls with PKU enter childbearing ages, there will be an increased need for specific programs that address psychosocial factors in maternal PKU. PMID:1994738

  19. Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management.

    PubMed

    Bruno, C; Dufour-Rainfray, D; Patin, F; Vourc'h, P; Guilloteau, D; Maillot, F; Labarthe, F; Tardieu, M; Andres, C R; Emond, P; Blasco, H

    2016-09-01

    Phenylketonuria (PKU) is a metabolic disorder leading to high concentrations of phenylalanine (Phe) and low concentrations of tyrosine (Tyr) in blood and brain that may be neurotoxic. This disease requires a regular monitoring of plasma Phe and Tyr as well as branched-chain amino-acids concentrations to adapt the Phe-restricted diet and other therapy that may be prescribed in PKU. We validated a Flow Injection Analysis tandem Mass Spectrometry (FIA-MS/MS) to replace the enzymatic method routinely used for neonatal screening in order to monitor in parallel to Phe, Tyr and branched-chain amino-acids not detected by the enzymatic method. We ascertained the performances of the method: linearity, detection and quantification limits, contamination index, accuracy. We cross validated the FIA-MS/MS and enzymatic methods and we evaluated our own reference ranges to monitor Phe, Tyr, Leu, Val on 59 dried blood spots of normal controls. We also evaluated Tyr, Leu and Val concentrations in PKU patients to detect some potential abnormalities, not evaluated by the enzymatic method. We developed a rapid method with excellent performances including precision and accuracy <15%. We noted an excellent correlation of Phe concentrations between FIA-MS/MS and enzymatic methods (p<0.0001) based on our database which are similar to references ranges published. We observed that 50% of PKU patients had lower concentrations of Tyr, Leu and/or Val that could not be detected by the enzymatic method. Based on laboratory accreditation recommendations, we validated a robust, rapid and reliable FIA-MS/MS method to monitor plasma Phe concentrations but also Tyr, Leu and Val concentrations, suitable for PKU management. We evaluated our own reference ranges of concentration for a routine application of this method. Copyright © 2016 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  20. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.

    PubMed

    ten Hoedt, Amber E; de Sonneville, Leo M J; Francois, Baudouin; ter Horst, Nienke M; Janssen, Mirian C H; Rubio-Gozalbo, M Estela; Wijburg, Frits A; Hollak, Carla E M; Bosch, Annet M

    2011-02-01

    The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet. Physicians and patients lack evidence-based guidelines to help them make well-informed choices. We have carried out the first randomised double-blind placebo-controlled trial into the effects of short-term elevation of Phe levels on neuropsychological functions and mood of adults with PKU. Nine continuously treated adults with PKU underwent two 4-week supplementation periods: one with Phe, mimicking normal dietary intake, and one with placebo in randomly allocated order via a randomisation coding list in a double-blind cross-over design. A set of neuropsychological tests (Amsterdam Neuropsychological Tasks) was administered at the end of each study period. In addition, patients and for each patient a friend or relative, completed weekly Profile of Mood States (POMS) questionnaires, evaluating the patients' mood. Phe levels were measured twice weekly. Mean plasma Phe levels were significantly higher during Phe supplementation compared with placebo (p = 0.008). Neuropsychological tests demonstrated an impairment in sustained attention during Phe supplementation (p = 0.029). Both patients and their friend or relative reported lower scores on the POMS questionnaires during Phe supplementation (p = 0.017 and p = 0.040, respectively). High plasma Phe levels have a direct negative effect on both sustained attention and on mood in adult patients with PKU. A Phe-restricted "diet for life" might be an advisable option for many.

  1. Institutionalizing China's Research University through Academic Mobility: The Case of PKU

    ERIC Educational Resources Information Center

    Xiaoguang, Shi

    2015-01-01

    Academic mobility is becoming a tread in academic life and a professional development globally, regionally and nationally. This article makes use of a case university--Peking University (PKU)--as an analytical approach to explore how and why academic mobility can happen in China's research universities. The author first presents an overview of the…

  2. The Long-Term Use of a Low-Phenylalanine Diet in Late-Treated Phenylketonuria: A Single Case Report

    ERIC Educational Resources Information Center

    Hewitt, Philippa; Cottle, Mandy; Coleman, Carol

    2006-01-01

    Background: When phenylketonuria (PKU) is not diagnosed and long-term treatment commenced within the first few weeks of life, permanent brain damage will occur. There is some evidence to show that late diagnosed or untreated people with PKU who have severe challenging behaviours may benefit from a low phenylalanine diet [Harper & Reid (1987)…

  3. [National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia].

    PubMed

    Osório, R V; Vilarinho, L; Soares, J P

    1992-03-01

    In Portugal the screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was begun towards the end of 1979, and by 1990 59 cases of PKU and 227 cases of CH had been detected. The early initiation of treatment and the observed mental and motor development, point towards a normal development in these children. A trial screen for congenital adrenal hyperplasia was carried out in 100.000 newborns, from which it was concluded that, under the present conditions, screening at a national level is not justified. A similar study is currently being undertaken for biotinidase deficiency and cystic fibrosis. The results ares discussed, as are the cost/benefits evaluations.

  4. Protein substitute dosage in PKU: how much do young patients need?

    PubMed

    MacDonald, A; Chakrapani, A; Hendriksz, C; Daly, A; Davies, P; Asplin, D; Hall, K; Booth, I W

    2006-07-01

    The optimal dose of protein substitute has not been determined in children with phenylketonuria (PKU). To determine if a lower dose of protein substitute could achieve the same or better degree of blood phenylalanine control when compared to the dosage recommended by the UK MRC.(1) In a six week randomised, crossover study, two doses of protein substitute (Protocol A: 2 g/kg/day of protein equivalent; Protocol B: 1.2 g/kg/day protein equivalent) were compared in 25 children with well controlled PKU aged 2-10 years (median 6 years). Each dose of protein substitute was taken for 14 days, with a 14 day washout period in between. Twice daily blood samples (fasting pre-breakfast and evening, at standard times) for plasma phenylalanine were taken on day 8-14 of each protocol. The median usual dose of protein substitute was 2.2 g/kg/day (range 1.5-3.1 g/kg/day). When compared with control values, median plasma phenylalanine on the low dose of protein substitute increased at pre-breakfast by 301 mumol/l (95% CI 215 to 386) and in the evening by 337 micromol/l (95% CI 248 to 431). On the high dose of protein substitute, plasma phenylalanine concentrations remained unchanged when compared to control values. However, wide variability was seen between subjects. A higher dosage of protein substitute appeared to contribute to lower blood phenylalanine concentrations in PKU, but it did have a variable and individual impact and may have been influenced by the carbohydrate (+/- fat) content of the protein substitute.

  5. Costs and Outcomes over 36 Years of Patients with Phenylketonuria Who Do and Do Not Remain on a Phenylalanine-Restricted Diet

    ERIC Educational Resources Information Center

    Guest, J. F.; Bai, J. J.; Taylor, R. R.; Sladkevicius, E.; Lee, P. J.; Lachmann, R. H.

    2013-01-01

    Background: To quantify the costs and consequences of managing phenylketonuria (PKU) in the UK and to estimate the potential implications to the UK's National Health Service (NHS) of keeping patients on a phenylalanine-restricted diet for life. Methods: A computer-based model was constructed depicting the management of PKU patients over the first…

  6. Quality of life among parents of children with phenylketonuria (PKU)

    PubMed Central

    2013-01-01

    Background Parents of children with chronic conditions are known to be at risk of impairment in their quality of life (QoL). Studies considering other chronic conditions proposed diverse factors to have an impact on the parent’s QoL. So far, there has been little research on parents who have a child with phenylketonuria (PKU). This study was designed to evaluate the parental quality of life (PQoL) of parents of children and adolescents who have PKU and identify possible predictors of PQoL. Methods In this cross-sectional study 89 parents completed self-report measures of PQoL, family stress, social support, and parental coping. To determine the impact of these potential predictors on PQoL, regression and mediation analyses were performed. Results Most parents coped well with their children’s metabolic disorder. Family stress (β = −0.42; p < 0.001) and perceived social support (β = 0.33; p = 0.001) were proven to be the most powerful predictors, accounting together for 45% of the variance of PQoL. Social support mediated the association between family stress and PQoL. Conclusions The current study indicates that parents of younger children are an especially vulnerable group. Members of health-care teams should be able to identify and empower vulnerable parents to seek and maintain social support. PMID:23537423

  7. Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.

    PubMed

    Bell, Sean M; Wendt, Dan J; Zhang, Yanhong; Taylor, Timothy W; Long, Shinong; Tsuruda, Laurie; Zhao, Bin; Laipis, Phillip; Fitzpatrick, Paul A

    2017-01-01

    Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe). Due to many obstacles, PAH enzyme replacement therapy is not currently an option. Treatment of PKU with an alternative enzyme, phenylalanine ammonia lyase (PAL), was first proposed in the 1970s. However, issues regarding immunogenicity, enzyme production and mode of delivery needed to be overcome. Through the evaluation of PAL enzymes from multiple species, three potential PAL enzymes from yeast and cyanobacteria were chosen for evaluation of their therapeutic potential. The addition of polyethylene glycol (PEG, MW = 20,000), at a particular ratio to modify the protein surface, attenuated immunogenicity in an animal model of PKU. All three PEGylated PAL candidates showed efficacy in a mouse model of PKU (BTBR Pahenu2) upon subcutaneous injection. However, only PEGylated Anabaena variabilis (Av) PAL-treated mice demonstrated sustained low Phe levels with weekly injection and was the only PAL evaluated that maintained full enzymatic activity upon PEGylation. A PEGylated recombinant double mutant version of AvPAL (Cys503Ser/Cys565Ser), rAvPAL-PEG, was selected for drug development based on its positive pharmacodynamic profile and favorable expression titers. PEGylation was shown to be critical for rAvPAL-PEG efficacy as under PEGylated rAvPAL had a lower pharmacodynamic effect. rAvPAL and rAvPAL-PEG had poor stability at 4°C. L-Phe and trans-cinnamate were identified as activity stabilizing excipients. rAvPAL-PEG is currently in Phase 3 clinical trials to assess efficacy in PKU patients.

  8. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.

    PubMed

    Potter, Beth K; Hutton, Brian; Clifford, Tammy J; Pallone, Nicole; Smith, Maureen; Stockler, Sylvia; Chakraborty, Pranesh; Barbeau, Pauline; Garritty, Chantelle M; Pugliese, Michael; Rahman, Alvi; Skidmore, Becky; Tessier, Laure; Tingley, Kylie; Coyle, Doug; Greenberg, Cheryl R; Korngut, Lawrence; MacKenzie, Alex; Mitchell, John J; Nicholls, Stuart; Offringa, Martin; Schulze, Andreas; Taljaard, Monica

    2017-12-19

    Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems. Currently there is no core outcome set (COS) for studies evaluating interventions for paediatric IMD. This protocol outlines a study that will establish COS for each of two relatively common IMD in children, phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. This two-part study is registered with the Core Outcome Measures in Effectiveness Trials (COMET) initiative. Part 1 includes a rapid review and development of an evidence map to identify a comprehensive listing of outcomes reported in past studies of PKU and MCAD deficiency. The review follows established methods for knowledge synthesis, including a comprehensive search strategy, two stages of screening citations against inclusion/exclusion criteria by two reviewers working independently, and extraction of important data elements from eligible studies, including details of the outcomes collected and outcome measurement instruments. The review findings will inform part 2 of our study, a set of Delphi surveys to establish consensus on the highest priority outcomes for each condition. Healthcare providers, families of children with PKU or MCAD deficiency, and health system decision-makers will be invited to participate in two to three rounds of Delphi surveys. The design of the surveys will involve parents of children with IMD who are part of a family advisory forum. This protocol is a crucial step in developing the capacity to launch RCTs with meaningful outcomes that address comparative effectiveness questions in the field of paediatric IMD. Such trials will contribute high-quality evidence to inform decision-making by patients and their family members, clinicians, and policy-makers.

  9. Improvements of PKU PMECRIS for continuous hundred hours CW proton beam operation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Peng, S. X., E-mail: sxpeng@pku.edu.cn; Ren, H. T.; Zhang, T.

    2016-02-15

    In order to improve the source stability, a long term continuous wave (CW) proton beam experiment has been carried out with Peking University compact permanent magnet 2.45 GHz ECR ion source (PKU PMECRIS). Before such an experiment a lot of improvements and modifications were completed on the source body, the Faraday cup and the PKU ion source test bench. At the beginning of 2015, a continuous operation of PKU PMECRIS for 306 h with more than 50 mA CW beam was carried out after success of many short term tests. No plasma generator failure or high voltage breakdown was observedmore » during that running period and the proton source reliability is near 100%. Total beam availability, which is defined as 35-keV beam-on time divided by elapsed time, was higher than 99% [S. X. Peng et al., Chin. Phys. B 24(7), 075203 (2015)]. A re-inspection was performed after another additional 100 h operation (counting time) and no obvious sign of component failure was observed. Counting the previous source testing time together, this PMECRs longevity is now demonstrated to be greater than 460 h. This paper is mainly concentrated on the improvements for this long term experiment.« less

  10. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

    PubMed

    Aldámiz-Echevarría, Luis; Llarena, Marta; Bueno, María A; Dalmau, Jaime; Vitoria, Isidro; Fernández-Marmiesse, Ana; Andrade, Fernando; Blasco, Javier; Alcalde, Carlos; Gil, David; García, María C; González-Lamuño, Domingo; Ruiz, Mónica; Ruiz, María A; Peña-Quintana, Luis; González, David; Sánchez-Valverde, Felix; Desviat, Lourdes R; Pérez, Belen; Couce, María L

    2016-08-01

    Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study aimed to assess the genotype-phenotype correlation in the PKU Spanish population and the usefulness in establishing genotype-based predictions of BH4 responsiveness in our population. It involved the molecular characterization of 411 Spanish PKU patients: mild hyperphenylalaninemia non-treated (mild HPA-NT) (34%), mild HPA (8.8%), mild-moderate (20.7%) and classic (36.5%) PKU. BH4 responsiveness was evaluated using a 6R-BH4 loading test. We assessed genotype-phenotype associations and genotype-BH4 responsiveness in our population according to literature and classification of the mutations. The mutational spectrum analysis showed 116 distinct mutations, most missense (70.7%) and located in the catalytic domain (62.9%). The most prevalent mutations were c.1066-11G>A (9.7%), p.Val388Met (6.6%) and p.Arg261Gln (6.3%). Three novel mutations (c.61-13del9, p.Ile283Val and p.Gly148Val) were reported. Although good genotype-phenotype correlation was observed, there was no exact correlation for some genotypes. Among the patients monitored for the 6R-BH4 loading test: 102 were responders (87, carried either one or two BH4-responsive alleles) and 194 non-responders (50, had two non-responsive mutations). More discrepancies were observed in non-responders. Our data reveal a great genetic heterogeneity in our population. Genotype is quite a good predictor of phenotype and BH4 responsiveness, which is relevant for patient management, treatment and follow-up.

  11. Protein substitute dosage in PKU: how much do young patients need?

    PubMed Central

    MacDonald, A; Chakrapani, A; Hendriksz, C; Daly, A; Davies, P; Asplin, D; Hall, K; Booth, I W

    2006-01-01

    Background The optimal dose of protein substitute has not been determined in children with phenylketonuria (PKU). Aim To determine if a lower dose of protein substitute could achieve the same or better degree of blood phenylalanine control when compared to the dosage recommended by the UK MRC.1 Methods In a six week randomised, crossover study, two doses of protein substitute (Protocol A: 2 g/kg/day of protein equivalent; Protocol B: 1.2 g/kg/day protein equivalent) were compared in 25 children with well controlled PKU aged 2–10 years (median 6 years). Each dose of protein substitute was taken for 14 days, with a 14 day washout period in between. Twice daily blood samples (fasting pre‐breakfast and evening, at standard times) for plasma phenylalanine were taken on day 8–14 of each protocol. The median usual dose of protein substitute was 2.2 g/kg/day (range 1.5–3.1 g/kg/day). Results When compared with control values, median plasma phenylalanine on the low dose of protein substitute increased at pre‐breakfast by 301 μmol/l (95% CI 215 to 386) and in the evening by 337 μmol/l (95% CI 248 to 431). On the high dose of protein substitute, plasma phenylalanine concentrations remained unchanged when compared to control values. However, wide variability was seen between subjects. Conclusions A higher dosage of protein substitute appeared to contribute to lower blood phenylalanine concentrations in PKU, but it did have a variable and individual impact and may have been influenced by the carbohydrate (+/− fat) content of the protein substitute. PMID:16547085

  12. Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?

    PubMed

    Groselj, Urh; Tansek, Mojca Zerjav; Battelino, Tadej

    2014-01-01

    Guthrie's landmark discovery and the subsequent implementation of the first newborn screening programs for phenylketonuria (PKU) and other inherited errors of metabolism (IEM) could be - in a 50 year retrospective - easily considered among the greatest advances in medicine. They have not just improved the quality of hundreds of thousands of lives, but also transformed our understanding and approach to PKU and IEM in general. However, according to the available albeit very scarce data, many countries and regions seem not to share the benefits of the last 50 years of development. Many of them have not yet introduced the newborn screening for PKU or face significant problems in its implementation. In addition, the issue seems to be underrated by the relevant professional forums. Action to improve the current situation should urgently be taken. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods

    PubMed Central

    Stroup, Bridget M.; Murali, Sangita G.; Rohr, Frances; Gleason, Sally T.; van Calcar, Sandra C.; Levy, Harvey L.

    2017-01-01

    Background Nutrient status in phenylketonuria (PKU) requires surveillance due to the restrictive low-Phe diet in combination with amino acid medical foods (AA-MF) or glycomacropeptide medical foods (GMP-MF). Micronutrient profiles of medical foods are diverse, and optimal micronutrient supplementation in PKU has not been established. Methods In a crossover design, 30 participants with PKU were randomized to consume AA-MF and Glytactin™ GMP-MF in combination with a low-Phe diet for 3 weeks each. Fasting venipunctures, medical food logs, and 3-day food records were obtained. Metabolomic analyses were completed in plasma and urine by Metabolon, Inc. Results The low-Phe diets in combination with AA-MF and GMP-MF were generally adequate based on Dietary Reference Intakes, clinical measures, and metabolomics. Without micronutrient supplementation of medical foods, >70% of participants would have inadequate intakes for 11 micronutrients. Despite micronutrient supplementation of medical foods, inadequate intakes of potassium in 93% of participants and choline in >40% and excessive intakes of sodium in >63% of participants and folic acid in >27% were observed. Sugar intake was excessive and provided 27% of energy. Conclusions Nutrient status was similar with AA-MF and Glytactin GMP-MF. More research related to micronutrient supplementation of medical foods for the management of PKU is needed. PMID:29464117

  14. Modification of infant hypothyroidism and phenylketonuria screening program using electronic tools.

    PubMed

    Taheri, Behjat; Haddadpoor, Asefeh; Mirkhalafzadeh, Mahmood; Mazroei, Fariba; Aghdak, Pezhman; Nasri, Mehran; Bahrami, Gholamreza

    2017-01-01

    Congenital hypothyroidism and phenylketonuria (PKU) are the most common cause for preventable mental retardation in infants worldwide. Timely diagnosis and treatment of these disorders can have lasting effects on the mental development of newborns. However, there are several problems at different stages of screening programs that along with imposing heavy costs can reduce the precision of the screening, increasing the chance of undiagnosed cases which in turn can have damaging consequences for the society. Therefore, given these problems and the importance of information systems in facilitating the management and improving the quality of health care the aim of this study was to improve the screening process of hypothyroidism and PKU in infants with the help of electronic resources. The current study is a qualitative, action research designed to improve the quality of screening, services, performance, implementation effectiveness, and management of hypothyroidism and PKU screening program in Isfahan province. To this end, web-based software was designed. Programming was carried out using Delphi.net software and used SQL Server 2008 for database management. Given the weaknesses, problems, and limitations of hypothyroidism and PKU screening program, and the importance of these diseases in a national scale, this study resulted in design of hypothyroidism and PKU screening software for infants in Isfahan province. The inputs and outputs of the software were designed in three levels including Health Care Centers in charge of the screening program, provincial reference lab, and health and treatment network of Isfahan province. Immediate registration of sample data at the time and location of sampling, providing the provincial reference Laboratory and Health Centers of different eparchies with the ability to instantly observe, monitor, and follow-up on the samples at any moment, online verification of samples by reference lab, creating a daily schedule for reference lab, and receiving of the results from analysis equipment; and entering the results into the database without the need for user input are among the features of this software. The implementation of hypothyroidism screening software led to an increase in the quality and efficiency of the screening program; minimized the risk of human error in the process and solved many of the previous limitations of the screening program which were the main goals for implementation of this software. The implementation of this software also resulted in improvement in precision and quality of services provided for these two diseases and better accuracy and precision for data inputs by providing the possibility of entering the sample data at the place and time of sampling which then resulted in the possibility of management based on precise data and also helped develop a comprehensive database and improved the satisfaction of service recipients.

  15. A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase

    PubMed Central

    Sarkissian, Christineh N.; Shao, Zhongqi; Blain, Françoise; Peevers, Rosalie; Su, Hongsheng; Heft, Robert; Chang, Thomas M. S.; Scriver, Charles R.

    1999-01-01

    Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and mental retardation, is a classic genetic disease and the first to have an identified chemical cause of impaired cognitive development. Treatment from birth with a low phenylalanine diet largely prevents the deviant cognitive phenotype by ameliorating HPA and is recognized as one of the first effective treatments of a genetic disease. However, compliance with dietary treatment is difficult and when it is for life, as now recommended by an internationally used set of guidelines, is probably unrealistic. Herein we describe experiments on a mouse model using another modality for treatment of PKU compatible with better compliance using ancillary phenylalanine ammonia lyase (PAL, EC 4.3.1.5) to degrade phenylalanine, the harmful nutrient in PKU; in this treatment, PAL acts as a substitute for the enzyme phenylalanine monooxygenase (EC 1.14.16.1), which is deficient in PKU. PAL, a robust enzyme without need for a cofactor, converts phenylalanine to trans-cinnamic acid, a harmless metabolite. We describe (i) an efficient recombinant approach to produce PAL enzyme, (ii) testing of PAL in orthologous N-ethyl-N′-nitrosourea (ENU) mutant mouse strains with HPA, and (iii) proofs of principle (PAL reduces HPA)—both pharmacologic (with a clear dose–response effect vs. HPA after PAL injection) and physiologic (protected enteral PAL is significantly effective vs. HPA). These findings open another way to facilitate treatment of this classic genetic disease. PMID:10051643

  16. Probabilistic modelling to assess exposure to three artificial sweeteners of young Irish patients aged 1-3 years with PKU and CMPA.

    PubMed

    O'Sullivan, Aaron J; Pigat, Sandrine; O'Mahony, Cian; Gibney, Michael J; McKevitt, Aideen I

    2016-11-01

    The choice of suitable normal foods is limited for individuals with particular medical conditions, e.g., inborn errors of metabolism (phenylketonuria - PKU) or severe cow's milk protein allergy (CMPA). Patients may have dietary restrictions and exclusive or partial replacement of specific food groups with specially formulated products to meet particular nutrition requirements. Artificial sweeteners are used to improve the appearance and palatability of such food products to avoid food refusal and ensure dietary adherence. Young children have a higher risk of exceeding acceptable daily intakes for additives than adults due to higher food intakes kg -1 body weight. The Budget Method and EFSA's Food Additives Intake Model (FAIM) are not equipped to assess partial dietary replacement with special formulations as they are built on data from dietary surveys of consumers without special medical requirements impacting the diet. The aim of this study was to explore dietary exposure modelling as a means of estimating the intake of artificial sweeteners by young PKU and CMPA patients aged 1-3 years. An adapted validated probabilistic model (FACET) was used to assess patients' exposure to artificial sweeteners. Food consumption data were derived from the food consumption survey data of healthy young children in Ireland from the National Preschool and Nutrition Survey (NPNS, 2010-11). Specially formulated foods for special medical purposes were included in the exposure model to replace restricted foods. Inclusion was based on recommendations for adequate protein intake and dietary adherence data. Exposure assessment results indicated that young children with PKU and CMPA have higher relative average intakes of artificial sweeteners than healthy young children. The reliability and robustness of the model in the estimation of patient additive exposures was further investigated and provides the first exposure estimates for these special populations.

  17. Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.

    PubMed

    Rohr, Frances; Wessel, Ann; Brown, Matthew; Charette, Kalin; Levy, Harvey L

    2015-01-01

    Phenylketonuria (PKU) is an inborn error in phenylalanine metabolism due to deficiency of the enzyme, phenylalanine hydroxylase (PAH). Treatment includes restriction of dietary phenylalanine, and in some individuals, supplementation with the PAH cofactor, tetrahydrobiopterin (sapropterin dihydrochloride). A survey was conducted among patients with PKU who had been prescribed sapropterin to assess reasons for continuing or discontinuing the drug. The primary reason that sapropterin responders discontinued the drug was because of side effects, followed by insufficient reduction of blood phenylalanine and insurance issues. Conversely, those who remained on therapy cited increased tolerance for dietary protein as the main reason for continuation, along with lower blood phenylalanine concentrations and feeling better. This study suggests that adherence to sapropterin therapy is mainly dependent upon the increase in dietary protein allowed when on the drug. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. The Adolescent Adjustment Profile (AAP) in comparisons of patients with obesity, phenylketonuria or neurobehavioural disorders.

    PubMed

    Olsson, Gunilla Maria; Mårild, Staffan; Alm, Jan; Brodin, Ulf; Rydelius, Per-Anders; Marcus, Claude

    2008-01-01

    Psychosocial development in children with chronic disease is a key issue in paediatrics. This study investigated whether psychosocial adjustment could be reliably assessed with the 42-item Adolescent Adjustment Profile (AAP) instrument. The study mainly focused on adjustment-to-obesity measurement, although it compared three patient groups with chronic conditions. All phenylketonuria (PKU) patients in Sweden between ages 9 and 18 and their parents and teachers were invited to participate. Patients with neurobehavioural syndromes and obesity were age- and gender-matched with PKU patients. Healthy children constituted a reference group. Psychosocial adjustment was measured using the AAP, which is a multi-informant questionnaire that contains four domains. Information concerning parents' socio-economic and civil status was requested separately. Respondents to the three questionnaires judged the PKU patients to be normal in all four domains. Patients with neurobehavioural syndromes demonstrated less competence and the most problems compared with the other three groups. According to the self-rating, the parent rating and the teacher rating questionnaires, obese patients had internalizing problems. The parent rating and the teacher rating questionnaire scored obese patients as having a lower work capacity than the reference group. Compared with the reference group, not only families with obese children but also families with children with neurobehavioural syndromes had significantly higher divorce rates. Obese patients were also investigated with the Strength and Difficulties Questionnaire (SDQ), another instrument that enables comparison between two measures of adjustment. The AAP had good psychometric properties; it was judged a useful instrument in research on adolescents with chronic diseases.

  19. Screening of Pesticides with the Potential of Inducing DSB and Successive Recombinational Repair

    PubMed Central

    2017-01-01

    A study was realized to ascertain whether eight selected pesticides would induce double strand breaks (DSB) in lymphocyte cultures and whether this damage would induce greater levels of proteins Rad51 participating in homologous recombination or of p-Ku80 participating in nonhomologous end joining. Only five pesticides were found to induce DSB of which only glyphosate and paraoxon induced a significant increase of p-Ku80 protein, indicating that nonhomologous end joining recombinational DNA repair system would be activated. The type of gamma-H2AX foci observed was comparable to that induced by etoposide at similar concentrations. These results are of importance since these effects occurred at low concentrations in the micromolar range, in acute treatments to the cells. Effects over longer exposures in actual environmental settings are expected to produce cumulative damage if repeated events of recombination take place over time. PMID:29129974

  20. Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.

    PubMed

    MacDonald, A; Lee, P; Davies, P; Daly, A; Lilburn, M; Gokmen Ozel, H; Preece, M A; Hendriksz, C; Chakrapani, A

    2008-12-01

    The long-term efficacy of vitamin and mineral preparations in dietary-treated adult patients with phenylketonuria (PKU) is unreported. In an open, intervention trial, the acceptability, safety and impact on biochemical and haematological micronutrient status of a new vitamin and mineral tablet (Phlexy Vits, SHS International) was investigated. Fifteen subjects with PKU (median age 21 years, range 8-33 years) on low-phenylalanine diet from two PKU centres were recruited. No vitamins or minerals were added to their protein substitute and for 12 months they took their full daily requirements of vitamin and minerals from Phlexy Vits (5 tablets/daily). All but two subjects had taken alternative vitamin and mineral supplements before the trial. Fasting bloods were taken at baseline (week -2 and at week 0), 4 and 12 months for a range of biochemical and nutritional measurements. By 4 months, serum vitamin B(12) (p = 0.003), serum manganese (p=0.03) and plasma (p=0.03) and red blood cell (p=0.004) glutathionine peroxidase (GSHPx) all significantly increased but remained within normal reference ranges. By 12 months, serum vitamin B(12) (p<0.05) and plasma GSHPx (p<0.05) remained increased. The Phlexy Vits tablets scored better than conventional vitamin and mineral supplements for overall acceptability (p<0.05), and ease of swallowing (p=0.1) at 4 months, although swallowing score deteriorated by 12 months (p<0.05). There was a small but significant deterioration in compliance with taking the vitamin and mineral supplements between 4 and 12 months (p<0.05). In the long term, these comprehensive vitamin and mineral tablets appeared acceptable and improved biochemical nutritional status, although there were long-term compliance and swallowing issues.

  1. Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria

    PubMed Central

    Fiori, Elena; Oddi, Diego; Ventura, Rossella; Colamartino, Marco; Valzania, Alessandro; D’Amato, Francesca Romana; Bruinenberg, Vibeke; van der Zee, Eddy; Puglisi-Allegra, Stefano

    2017-01-01

    Phenylketonuria (PKU) is one of the most common human inborn errors of metabolism, caused by phenylalanine hydroxylase deficiency, leading to high phenylalanine and low tyrosine levels in blood and brain causing profound cognitive disability, if untreated. Since 1960, population is screened for hyperphenylalaninemia shortly after birth and submitted to early treatment in order to prevent the major manifestations of the disease. However, the dietetic regimen (phenylalanine free diet) is difficult to maintain, and despite the recommendation to a strict and lifelong compliance, up to 60% of adolescents partially or totally abandons the treatment. The development and the study of new treatments continue to be sought, taking advantage of preclinical models, the most used of which is the PAHenu2 (BTBR ENU2), the genetic murine model of PKU. To date, adult behavioral and neurochemical alterations have been mainly investigated in ENU2 mice, whereas there are no clear indications about the onset of these deficiencies. Here we investigated and report, for the first time, a comprehensive behavioral and neurochemical assay of the developing ENU2 mice. Overall, our findings demonstrate that ENU2 mice are significantly smaller than WT until pnd 24, present a significant delay in the acquisition of tested developmental reflexes, impaired communicative, motor and social skills, and have early reduced biogenic amine levels in several brain areas. Our results extend the understanding of behavioral and cerebral abnormalities in PKU mice, providing instruments to an early preclinical evaluation of the effects of new treatments. PMID:28850618

  2. PHENYLKETONURIA, A COMPREHENSIVE BIBLIOGRAPHY, 1964.

    ERIC Educational Resources Information Center

    Children's Bureau (DHEW), Washington, DC.

    INTENDED AS AN AID TO PROFESSIONAL AND TECHNICAL PERSONS INTERESTED IN PHENYLKETONURIA (PKU), THE BIBLIOGRAPHY LISTS AND ANNOTATES 817 ITEMS. CONTENT DIVISIONS ARE (1) GENERAL--MONOGRAPHS AND ARTICLES, (2) BIOCHEMISTRY--METABOLISM, EXPERIMENTS, TESTS, AND CASES IN WHICH THE EMPHASIS IS ON BIOCHEMISTRY, (3) GENETICS--GENE STUDIES, HEREDITARY…

  3. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

    PubMed

    Thomas, Janet; Levy, Harvey; Amato, Stephen; Vockley, Jerry; Zori, Roberto; Dimmock, David; Harding, Cary O; Bilder, Deborah A; Weng, Haoling H; Olbertz, Joy; Merilainen, Markus; Jiang, Joy; Larimore, Kevin; Gupta, Soumi; Gu, Zhonghua; Northrup, Hope

    2018-05-01

    Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL), converts Phe to trans-cinnamic acid and ammonia, and is a potential enzyme substitution therapy to lower blood Phe in adults with PKU. Two Phase 3 studies, PRISM-1 and PRISM-2, evaluated the efficacy and safety of pegvaliase treatment using an induction, titration, and maintenance dosing regimen in adults with PKU. In PRISM-1, pegvaliase-naïve participants with blood Phe >600 μmol/L were randomized 1:1 to a maintenance dose of 20 mg/day or 40 mg/day of pegvaliase. Participants in PRISM-1 continued pegvaliase treatment in PRISM-2, a 4-part clinical trial that includes an ongoing, open-label, long-term extension study of pegvaliase doses of 5 mg/day to 60 mg/day. Of 261 participants who received pegvaliase treatment, 72.0% and 32.6% reached ≥12 months and ≥ 24 months of study treatment, respectively, and 65% are still actively receiving treatment. Mean (SD) blood Phe was 1232.7 (386.4) μmol/L at baseline, 564.5 (531.2) μmol/L at 12 months, and 311.4 (427) μmol/L at 24 months, a decrease from baseline of 51.1% and 68.7%, respectively. Within 24 months, 68.4% of participants achieved blood Phe ≤600 μmol/L, 60.7% of participants achieved blood Phe ≤360 μmol/L, below the upper limit recommended in the American College of Medical Genetics and Genomics PKU management guidelines, and 51.2% achieved blood Phe ≤120 μmol/L, below the upper limit of normal in the unaffected population. Improvements in neuropsychiatric outcomes were associated with reductions in blood Phe and were sustained with long-term pegvaliase treatment. Adverse events (AEs) were more frequent in the first 6 months of exposure (early treatment phase) than after 6 months of exposure (late treatment phase); 99% of AEs were mild or moderate in severity and 96% resolved without dose interruption or reduction. The most common AEs were arthralgia (70.5%), injection-site reaction (62.1%), injection-site erythema (47.9%), and headache (47.1%). Acute systemic hypersensitivity events consistent with clinical National Institute of Allergy and Infectious Diseases and the Food Allergy and Anaphylaxis Network anaphylaxis criteria were observed in 12 participants (17 events); of these, 6 participants remained on treatment. Acute systemic hypersensitivity events including potential events of anaphylaxis were not associated with immunoglobulin E, and all events resolved without sequelae. Results from the PRISM Phase 3 program support the efficacy of pegvaliase for the treatment of adults with PKU, with a manageable safety profile in most participants. The PRISM-2 extension study will continue to assess the long-term effects of pegvaliase treatment. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  4. Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

    PubMed

    Leuret, Oriane; Barth, Magalie; Kuster, Alice; Eyer, Didier; de Parscau, Loïc; Odent, Sylvie; Gilbert-Dussardier, Brigitte; Feillet, François; Labarthe, François

    2012-11-01

    Sapropterin dihydrochloride, an EMEA-approved synthetic formulation of BH4, has been available in Europe since 2009 for PKU patients older than 4 years, but its use with younger children is allowed in France based on an expert recommendation. We report the cases of 15 patients treated under the age of 4 years and demonstrate the safety and efficacy of this treatment for patients in this age group. We report the use of BH4 in 15 PKU patients treated before the age of 4 years. Fifteen patients were enrolled in this retrospective study. Mean phenylalaninemia at diagnosis was 542 ± 164 μM and all patients had mild PKU (maximal phenylalaninemia: 600-1200 μM). BH4 responsiveness was assessed using a 24-hour BH4 loading test (20 mg/kg), performed during the neonatal period (n = 11) or before 18 months of age (n = 4). During the test, these patients exhibited an 80 ± 12% decrease in phenylalaninemia. Long-term BH4 therapy was initiated during the neonatal period (n = 7) or at the age of 13 ± 12 months (n = 8). The median duration of treatment was 23 months [min 7; max 80]. BH4 therapy drastically improved dietary phenylalanine tolerance (456 ± 181 vs 1683 ± 627 mg/day, p < 0.0001) and allowed a phenylalanine-free amino acid mixture to be discontinued or not introduced in 14 patients. Additionally, in the eight patients treated after a few months of diet therapy, BH4 treatment significantly decreased mean phenylalaninemia (352 ± 85 vs 254 ± 64 μM, p < 0.05), raised the percentage of phenylalaninemia tests within therapeutic targets [120-300 μM] (35 ± 25 vs 64 ± 16%, p < 0.05), and reduced phenylalaninemia variance (130 ± 21 vs 93 ± 27 μM, p < 0.05). No side effects were reported. BH4-therapy is efficient and safe before the age of 4 years in mild PKU, BH4-responsive patients.

  5. [Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience].

    PubMed

    Bozkowa, K; Cabalska, B; Radomyska, B; Ołtarzewski, M; Lenartowska, I

    1999-01-01

    The results and the significance of neonatal mass-screening programmes for inborn errors of metabolism, conducted by the National Research Institute of Mother and Child (NRIMC), are discussed. As the first in Poland, in 1964, mass-screening for phenylketonuria (PKU) was introduced. The BIA-Guthrie test was used. Other Guthrie tests (GBIA) were applied in homocystinuria, tyrosinemia, histidinemia and leucinosis (Maple Syrup Urine Disease-MSUD). In the middle of the 60. the Beutler and Baluda test was introduced for galactosaemia, as well as the Efron urine test in infant screening for different inborn errors of metabolism. In the middle of the 70., neonatal mass-screening for cystic fibrosis (CF, mucoviscidosis) was started. Meconium tests and the sweat test with ion selective chloride electrode were used. Apart from inborn errors of metabolism, we also introduced a screening programme for neuroblastoma in which vaniline mandelic acid (VMA) in urine was estimated and for congenital hypothyroidism were TSH level was assessed. The results of screening are shown in the tables and in the figures. In our opinion the best clinical results are obtained with screening for congenital hypothyroidism and for PKU, since very early detection and treatment in these diseases prevents severe mental retardation. We therefore consider that both these screening programmes should be treated as obligatory examinations in all neonates. Taking into consideration the fact that there are different types of hyperhenylalaninemias, the principles of differential diagnosis are discussed. Molecular genetic investigations, carried out in the NRIMC Department of Genetics proved to be a very important procedure in the verification of diagnosis of different mutations. The authors also discuss the problem of dietary treatment duration in PKU. In our opinion the hypophenyloalanine diet regimen in girls, should not be discontinued during adolescence, since there is the problem of maternal PKU and the possibility of foetal damage. The results of our own investigations of maternal PKU are discussed. The significance of mass-screening for galactosemia is still under discussion. In our opinion, mass-screening for galactosemia is not useful and we have discontinued it. Selective screening has been started combined with molecular genetic studies in high risk families. In the future, we plan to prepare guidelines on the principles of diagnosis and treatment of galactosemia in children and women in the reproductive age. Mass-screening for cystic fibrosis is also still under discussion. The results of the early screening programmes were not satisfactory and the tests were discontinued. In 1998, after reorganisation of the whole system, CF screening, using tripsin-radioimmune assays, was started again. The new screening programme is combined with molecular genetic investigation of different mutations. It is still too early to assess the importance and success of this CF mass-screening programme. We decided to discontinue the screening for homocystinuria, histidinemia, tyrosinemia, leucinosis and for neuroblastoma, since these programmes did not comply with criteria of mass-screening. In 1997, major reorganisation of screening programmes for inborn errors of metabolism, at NRIMC, was undertaken. The Guthrie test for PKU was changed to a quantitative colorimetric method. The immuno-luminometric method is used for TSH estimation. The whole system is based on complete computer control of all the steps of screening, from blood sampling on filter paper until the final diagnosis. The advantages of this modern system of organisation of the screening programme are discussed.

  6. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria

    PubMed Central

    MacLeod, Erin L.; Clayton, Murray K.; van Calcar, Sandra C.; Ney, Denise M.

    2010-01-01

    Phenylketonuria (PKU) requires a lifelong low-phenylalanine (phe) diet where protein needs are met by consumption of a phe-free amino acid (AA) formula; complaints of persistent hunger are common. Foods made with glycomacropeptide (GMP), an intact protein that contains minimal phe and may promote satiety, provide an alternative to AA formula. The objective was to assess the ability of a GMP breakfast to promote satiety and affect plasma concentrations of AAs, insulin, and the appetite stimulating hormone ghrelin in those with PKU, when compared to an AA-based breakfast. Eleven PKU subjects (8 adults and 3 boys ages 11–14) served as their own controls in an inpatient metabolic study with two 4-day treatments: an AA-based diet followed by a diet replacing all AA formula with GMP foods. Plasma concentrations of AAs, insulin and ghrelin were obtained before and/or 180 minutes after breakfast. Satiety was assessed using a visual analog scale before, immediately after and 180 minutes after breakfast. Postprandial ghrelin concentration was significantly lower (p=0.03) with GMP compared to an AA-based breakfast, with no difference in fasting ghrelin. Lower postprandial ghrelin concentrations were associated with greater feelings of fullness 180 minutes after breakfast suggesting greater satiety with GMP compared to AAs. Postprandial concentrations of insulin and total plasma AAs were higher after a GMP breakfast compared to an AA-based breakfast consistent with slower absorption of AAs from GMP. These results show sustained ghrelin suppression, and suggest greater satiety with ingestion of a meal containing GMP compared with AAs. PMID:20466571

  7. Practical aspects of recruitment and retention in clinical trials of rare genetic diseases: the phenylketonuria (PKU) experience.

    PubMed

    DeWard, Stephanie J; Wilson, Ashley; Bausell, Heather; Volz, Ashley S; Mooney, Kimberly

    2014-02-01

    Bringing treatments for rare genetic diseases to patients requires clinical research. Despite increasing activism from patient support and advocacy groups to increase access to clinical research studies, connecting rare disease patients with the clinical research opportunities that may help them has proven challenging. Chief among these challenges are the low incidence of these diseases resulting in a very small pool of known patients with a particular disease, difficulty of diagnosing rare genetic diseases, logistical issues such as long distances to the nearest treatment center, and substantial disease burden leading to loss of independence. Using clinical studies of phenylketonuria as an example, this paper discusses how, based on the authors' collective experience, partnership among clinicians, patients, study coordinators, genetic counselors, dietitians, industry, patient support groups, and families can help overcome the challenges of recruiting and retaining patients in rare disease clinical trials. We discuss specific methods of collaboration, communication, and education as part of a long-term effort to build a community committed to advancing the medical care of patients with rare genetic diseases. By talking to patients and families regularly about research initiatives and taking steps to make study participation as easy as possible, rare disease clinic staff can help ensure adequate study enrollment and successful study completion.

  8. Post-Translational Incorporation of L-Phenylalanine into the C-Terminus of α-Tubulin as a Possible Cause of Neuronal Dysfunction.

    PubMed

    Ditamo, Yanina; Dentesano, Yanela M; Purro, Silvia A; Arce, Carlos A; Bisig, C Gastón

    2016-12-01

    α-Tubulin C-terminus undergoes post-translational, cyclic tyrosination/detyrosination, and L-Phenylalanine (Phe) can be incorporated in place of tyrosine. Using cultured mouse brain-derived cells and an antibody specific to Phe-tubulin, we showed that: (i) Phe incorporation into tubulin is reversible; (ii) such incorporation is not due to de novo synthesis; (iii) the proportion of modified tubulin is significant; (iv) Phe incorporation reduces cell proliferation without affecting cell viability; (v) the rate of neurite retraction declines as level of C-terminal Phe incorporation increases; (vi) this inhibitory effect of Phe on neurite retraction is blocked by the co-presence of tyrosine; (vii) microtubule dynamics is reduced when Phe-tubulin level in cells is high as a result of exogenous Phe addition and returns to normal values when Phe is removed; moreover, microtubule dynamics is also reduced when Phe-tubulin is expressed (plasmid transfection). It is known that Phe levels are greatly elevated in blood of phenylketonuria (PKU) patients. The molecular mechanism underlying the brain dysfunction characteristic of PKU is unknown. Beyond the differences between human and mouse cells, it is conceivable the possibility that Phe incorporation into tubulin is the first event (or among the initial events) in the molecular pathways leading to brain dysfunctions that characterize PKU.

  9. A New Model for Allosteric Regulation of Phenylalanine Hydroxylase: Implications for Disease and Therapeutics

    PubMed Central

    Stith, Linda; Lawrence, Sarah H.; Andrake, Mark; Dunbrack, Roland L.

    2013-01-01

    The structural basis for allosteric regulation of phenylalanine hydroxylase (PAH), whose dysfunction causes phenylketonuria (PKU), is poorly understood. A new morpheein model for PAH allostery is proposed to consist of a dissociative equilibrium between two architecturally different tetramers whose interconversion requires a ~90° rotation between the PAH catalytic and regulatory domains, the latter of which contains an ACT domain. This unprecedented model is supported by in vitro data on purified full length rat and human PAH. The conformational change is both predicted to and shown to render the tetramers chromatographically separable using ion exchange methods. One novel aspect of the activated tetramer model is an allosteric phenylalanine binding site at the inter-subunit interface of ACT domains. Amino acid ligand-stabilized ACT domain dimerization follows the multimerization and ligand binding behavior of ACT domains present in other proteins in the PDB. Spectroscopic, chromatographic, and electrophoretic methods demonstrate a PAH equilibrium consisting of two architecturally distinct tetramers as well as dimers. We postulate that PKU-associated mutations may shift the PAH quaternary structure equilibrium in favor of the low activity assemblies. Pharmacological chaperones that stabilize the ACT:ACT interface can potentially provide PKU patients with a novel small molecule therapeutic. PMID:23296088

  10. Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?

    PubMed

    Sarkissian, Christineh N; Gámez, Alejandra

    2005-12-01

    Phenylketonuria (PKU) is an autosomal recessive genetic disorder in which mutations in the phenylalanine-4-hydroxylase (PAH) gene result in an inactive enzyme (PAH, EC 1.14.16.1). The effect is an inability to metabolize phenylalanine (Phe), translating into elevated levels of Phe in the bloodstream (hyperphenylalaninemia). If therapy is not implemented at birth, mental retardation can occur. PKU patients respond to treatment with a low-phenylalanine diet, but compliance with the diet is difficult, therefore the development of alternative treatments is desirable. Enzyme substitution therapy with a recombinant phenylalanine ammonia lyase (PAL) is currently being explored. This enzyme converts Phe to the harmless metabolites, trans-cinnamic acid and trace ammonia. Taken orally and when non-absorbable and protected, PAL lowers plasma Phe in mutant hyperphenylalaninemic mouse models. Subcutaneous administration of PAL results in more substantial lowering of plasma and significant reduction in brain Phe levels, however the metabolic effect is not sustained following repeated injections due to an immune response. We have chemically modified PAL by pegylation to produce a protected form of PAL that possesses better specific activity, prolonged half-life, and reduced immunogenicity in vivo. Subcutaneous administration of pegylated molecules to PKU mice has the desired metabolic response (prolonged reduction in blood Phe levels) with greatly attenuated immunogenicity.

  11. Turbulence experiments on the PKU Plasma Test (PPT) device

    NASA Astrophysics Data System (ADS)

    Xu, Tianchao; Xiao, Chijie; Yang, Xiaoyi; Chen, Yihang; Yu, Yi; Xu, Min; Wang, Long; Lin, Chen; Wang, Xiaogang

    2017-10-01

    The PKU Plasma Test (PPT) device is a linear plasma device in Peking University, China. It has a vacuum chamber with 1000mm length and 500mm diameter. A pair of Helmholtz coils can generate toroidal magnetic field up to 2000 Gauss, and plasma was generated by a helicon source. Probes and fast camera were used to diagnose the parameters and got the turbulence spectrums, coherent structure, etc. The dynamics of turbulence, coherent structure and parameter profiles have been analyzed, and it has been found that the turbulence states are related to the equilibrium profiles; Some coherent structures exist and show strongly interactions with the background turbulences; The spatial and temporal evolutions of these coherent structures are related to the amplitude of the density gradient and electric field. These results will help on further studies of plasma transport. This work was supported by the National Natural Science Foundation of China under 11575014 and 11375053, CHINA MOST under 2012YQ030142 and ITER-CHINA program 2015GB120001.

  12. Child and Parent Attributions in Chronic Pediatric Conditions: Phenylketonuria (PKU) as an Exemplar

    ERIC Educational Resources Information Center

    Antshel, Kevin M.; Brewster, Scott; Waisbren, Susan E.

    2004-01-01

    Background: Attribution theory, self-regulation, self-handicapping and sick role theories all suggest that children with chronic disease may be held to different standards. This study assesses child and parent attributions in pediatric chronic health conditions and addresses how attributional style may be related to treatment adherence. Methods:…

  13. Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia.

    PubMed

    Shakespeare, Lynette; Downing, Melanie; Allen, Joyce; Casbolt, Ann-Marie; Ellin, Sheila; Maloney, Martin; Race, Gillian; Bonham, Jim

    2010-11-01

    Introduction Newborn screening for phenylketonuria (PKU) can reveal other conditions which lead to an increased blood spot phenylalanine (Phe) concentration. We have investigated the proportion of blood spot samples that gave a positive screen due to clinically significant conditions other than PKU, compared the positive predictive value (PPV) of our referral Phe cut-off with that recommended by the UK Newborn Screening Programme Centre (UKNSPC) (>210 and >240 μmol/L, respectively) and evaluated the effectiveness of reflex testing for galactosaemia using a lower blood spot Phe cut-off concentration of 130 μmol/L. All blood spot samples that screened positive, for an increased Phe concentration, between April 2001 and March 2008, were identified from the records of the Sheffield Newborn Screening Laboratory and the diagnoses noted. In addition, all cases of galactosaemia detected in or notified to our screening laboratory within this time were also examined and the screened Phe concentrations compared. Out of 438,674 babies who were screened, 67 had Phe concentration >210 μmol/L (15 per 100,000). Of these, 40 had PKU or persistent hyperphenylalaninaemia with a Phe concentration identified by screening between 270 and 2350 μmol/L. A further 11 were diagnosed with another clinically significant disorder: galactosaemia (n = 8), biopterin defects (n = 2), tyrosinaemia Type 1 (n = 1). In addition, 16 had transient elevations in Phe. In total, nine cases of galactosaemia were identified, of whom, three had Phe concentrations <240 μmol/L with one asymptomatic individual having a concentration <210 μmol/L. Adoption of the UKNSPC recommended cut-off (>240 μmol/L) will not affect the detection rate of classical PKU, but will improve the PPV from 76% to 80%. The use of a lower cut-off (130 μmol/L) for reflex galactosaemia testing enables the timely identification of asymptomatic cases that benefit particularly from early treatment, without prompting any unnecessary clinical referrals or delaying any referrals. This intervention may reduce mortality in this vulnerable group.

  14. An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland

    ERIC Educational Resources Information Center

    Mazur, Artur; Jarochowicz, Sabina; Oltarzewski, Mariusz; Sykut-Cegielska, Jolanta; Gradowska, Wanda; Januszek-Trzciakowska, Aleksandra; O'Malley, Grace; Kwolek, Andrzej

    2011-01-01

    Background: The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south-eastern part of Poland. Methods: The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening…

  15. Learning about Phenylketonuria (PKU)

    MedlinePlus

    ... provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited ...

  16. Enhanced saturated fatty acids accumulation in cultures of newly-isolated strains of Schizochytrium sp. and Thraustochytriidae sp. for large-scale biodiesel production.

    PubMed

    Wang, Qiuzhen; Sen, Biswarup; Liu, Xianhua; He, Yaodong; Xie, Yunxuan; Wang, Guangyi

    2018-08-01

    Heterotrophic marine protists (Thraustochytrids) have received increasingly global attention as a renewable, sustainable and alternative source of biodiesel because of their high ability of saturated fatty acids (SFAs) accumulation. Yet, the influence of extrinsic factors (nutrients and environmental conditions) on thraustochytrid culture and optimal conditions for high SFAs production are poorly described. In the present study, two different thraustochytrid strains, Schizochytrium sp. PKU#Mn4 and Thraustochytriidae sp. PKU#Mn16 were studied for their growth and SFAs production profiles under various conditions (carbon, nitrogen, temperature, pH, KH 2 PO 4 , salinity, and agitation speed). Of the culture conditions, substrates (C and N) source and conc., temperature, and agitation speed significantly influenced the cell growth and SFAs production of both strains. Although both the strains were capable of growth and SFAs production in the broad range of culture conditions, their physiological responses to KH 2 PO 4 , pH, and salinity were dissimilar. Under their optimal batch culture conditions, peak SFAs productions of 3.3g/L and 2.2g/L with 62% and 49% SFAs contents (relative to total fatty acids) were achieved, respectively. The results of 5-L fed-batch fermentation under optimal conditions showed a nearly 4.5-fold increase in SFAs production (i.e., 7.5g/L) by both strains compared to unoptimized conditions. Of the two strains, the quality of biodiesel produced from the fatty acids of PKU#Mn4 met the biodiesel standard defined by ASTM6751. This study, to the knowledge of the authors, is the first comprehensive report of optimal fermentation conditions demonstrating enhanced SFAs production by strains belonging to two different thraustochytrid genera and provides the basis for large-scale biodiesel production. Copyright © 2018. Published by Elsevier B.V.

  17. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.

    PubMed

    Thiboonboon, Kittiphong; Leelahavarong, Pattara; Wattanasirichaigoon, Duangrurdee; Vatanavicharn, Nithiwat; Wasant, Pornswan; Shotelersuk, Vorasuk; Pangkanon, Suthipong; Kuptanon, Chulaluck; Chaisomchit, Sumonta; Teerawattananon, Yot

    2015-01-01

    Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process called tandem mass spectrometry (MS/MS) can be used as it allows for rapid and simultaneous detection of the diseases. This analysis was performed to determine whether newborn screening by MS/MS is cost-effective in Thailand. A cost-utility analysis comprising a decision-tree and Markov model was used to estimate the cost in Thai baht (THB) and health outcomes in life-years (LYs) and quality-adjusted life year (QALYs) presented as an incremental cost-effectiveness ratio (ICER). The results were also adjusted to international dollars (I$) using purchasing power parities (PPP) (1 I$ = 17.79 THB for the year 2013). The comparisons were between 1) an expanded neonatal screening programme using MS/MS screening for six prioritised diseases: phenylketonuria (PKU); isovaleric acidemia (IVA); methylmalonic acidemia (MMA); propionic acidemia (PA); maple syrup urine disease (MSUD); and multiple carboxylase deficiency (MCD); and 2) the current practice that is existing PKU screening. A comparison of the outcome and cost of treatment before and after clinical presentations were also analysed to illustrate the potential benefit of early treatment for affected children. A budget impact analysis was conducted to illustrate the cost of implementing the programme for 10 years. The ICER of neonatal screening using MS/MS amounted to 1,043,331 THB per QALY gained (58,647 I$ per QALY gained). The potential benefits of early detection compared with late detection yielded significant results for PKU, IVA, MSUD, and MCD patients. The budget impact analysis indicated that the implementation cost of the programme was expected at approximately 2,700 million THB (152 million I$) over 10 years. At the current ceiling threshold, neonatal screening using MS/MS in the Thai context is not cost-effective. However, the treatment of patients who were detected early for PKU, IVA, MSUD, and MCD, are considered favourable. The budget impact analysis suggests that the implementation of the programme will incur considerable expenses under limited resources. A long-term epidemiological study on the incidence of IEM in Thailand is strongly recommended to ascertain the magnitude of problem.

  18. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

    PubMed Central

    Thiboonboon, Kittiphong; Leelahavarong, Pattara; Wattanasirichaigoon, Duangrurdee; Vatanavicharn, Nithiwat; Wasant, Pornswan; Shotelersuk, Vorasuk; Pangkanon, Suthipong; Kuptanon, Chulaluck; Chaisomchit, Sumonta; Teerawattananon, Yot

    2015-01-01

    Background Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process called tandem mass spectrometry (MS/MS) can be used as it allows for rapid and simultaneous detection of the diseases. This analysis was performed to determine whether newborn screening by MS/MS is cost-effective in Thailand. Method A cost-utility analysis comprising a decision-tree and Markov model was used to estimate the cost in Thai baht (THB) and health outcomes in life-years (LYs) and quality-adjusted life year (QALYs) presented as an incremental cost-effectiveness ratio (ICER). The results were also adjusted to international dollars (I$) using purchasing power parities (PPP) (1 I$ = 17.79 THB for the year 2013). The comparisons were between 1) an expanded neonatal screening programme using MS/MS screening for six prioritised diseases: phenylketonuria (PKU); isovaleric acidemia (IVA); methylmalonic acidemia (MMA); propionic acidemia (PA); maple syrup urine disease (MSUD); and multiple carboxylase deficiency (MCD); and 2) the current practice that is existing PKU screening. A comparison of the outcome and cost of treatment before and after clinical presentations were also analysed to illustrate the potential benefit of early treatment for affected children. A budget impact analysis was conducted to illustrate the cost of implementing the programme for 10 years. Results The ICER of neonatal screening using MS/MS amounted to 1,043,331 THB per QALY gained (58,647 I$ per QALY gained). The potential benefits of early detection compared with late detection yielded significant results for PKU, IVA, MSUD, and MCD patients. The budget impact analysis indicated that the implementation cost of the programme was expected at approximately 2,700 million THB (152 million I$) over 10 years. Conclusion At the current ceiling threshold, neonatal screening using MS/MS in the Thai context is not cost-effective. However, the treatment of patients who were detected early for PKU, IVA, MSUD, and MCD, are considered favourable. The budget impact analysis suggests that the implementation of the programme will incur considerable expenses under limited resources. A long-term epidemiological study on the incidence of IEM in Thailand is strongly recommended to ascertain the magnitude of problem. PMID:26258410

  19. Dicarboxylic acids, ketocarboxylic acids, α-dicarbonyls, fatty acids, and benzoic acid in urban aerosols collected during the 2006 Campaign of Air Quality Research in Beijing (CAREBeijing-2006)

    NASA Astrophysics Data System (ADS)

    Ho, K. F.; Lee, S. C.; Ho, Steven Sai Hang; Kawamura, Kimitaka; Tachibana, Eri; Cheng, Y.; Zhu, Tong

    2010-10-01

    Ground-based studies of PM2.5 were conducted for determination of 30 water-soluble organic species, including dicarboxylic acids, ketocarboxylic acids and dicarbonyls, nine fatty acids, and benzoic acid, during the Campaign of Air Quality Research in Beijing 2006 (CAREBeijing-2006; 21 August to 4 September 2006) at urban (Peking University, PKU) and suburban (Yufa) sites of Beijing. Molecular distributions of dicarboxylic acids demonstrated that oxalic acid (C2) was the most abundant species, followed by phthalic acid (Ph) and succinic acid (C4) at both sites. The sum of three dicarboxylic acids accounted for 71% and 74% of total quantified water-soluble organics (327-1552 and 329-1124 ng m-3) in PKU and Yufa, respectively. Positive correlation was found between total quantified water-soluble species and water-soluble organic compounds (WSOC). On a carbon basis, total quantified dicarboxylic acids and ketocarboxylic acids and dicarbonyls account for up to 14.2% and 30.4% of the WSOC in PKU and Yufa, respectively, suggesting that they are the major WSOC fractions in Beijing. The distributions of fatty acids are characterized by a strong even carbon number predominance with maximum at hexadecanoic acid (C16:0). The ratio of octadecanoic acid (C18:0) to hexadecanoic acid (C16:0) (0.39-0.85, with an average of 0.36) suggests that in addition to vehicular emissions, an input from cooking emissions is important, as is biogenic emission. Benzoic acid that has been proposed as a primary pollutant from vehicular exhaust and a secondary product from photochemical reactions was found to be abundant: 72.2 ± 58.1 ng m-3 in PKU and 78.0 ± 47.3 ng m-3 in Yufa. According to the 72 hour back trajectory analysis, when the air mass passed over the southern or southeastern part of Beijing (24-25 August and 1-2 September), the highest concentrations of organic compounds were observed. On the contrary, when the clean air masses came straight from the north during 3-4 September, the lowest levels of organic compounds were recorded. This study demonstrates that pollution episodes in Beijing were strongly controlled by wind direction; that is, air quality in Beijing is good when air masses originate from the north and northwest, whereas it deteriorates when the air mass originates from the south and southeast.

  20. Depression and anxiety among parents of phenylketonuria children

    PubMed Central

    Gunduz, Mehmet; Arslan, Nur; Unal, Ozlem; Cakar, Sevim; Kuyum, Pınar; Bulbul, Selda F.

    2015-01-01

    Objective: To investigate the existence of depression and/or anxiety with underlying risk factors among parents of children with classical phenylketonuria (PKU). Methods: This cross-sectional study was conducted in the Division of Pediatric Metabolism, Ankara Children’s Hospital, Dokuz Eylul University, Kırıkkale University, and Erzurum Local Research Hospital, Turkey, between January and July 2014. Parents of 61 patients and 36 healthy controls completed the self-report questionnaires. We used Beck Depression Inventory (BDI) to assess the parental depression and State-Trait Anxiety Inventory S-T (STAI S-T) to assess parental anxiety. Results: Depression and anxiety scores were significantly higher in the case group (BDI 12.3±9.1; STAI-S: 38.2±9.6; STAI-T: 43.2±6.9) than controls (BDI: 5.4±4.1 p=0.000; STAI-S: 31.8±7.6 p=0.001; STAI-T: 37.0±7.2 p=0.000). Mothers of the patients had higher scores than the other parental groups (BDI: p=0.000, STAI-S: p=0.001 and STAI-T: p=0.000). Logistic regression analysis showed that low educational level of the parent was the only independent factor for depression (OR 9.96, 95% CI: 1.89-52.35, p=0.007) and state anxiety (OR: 6.99, 95% CI: 1.22-40.48, p=0.030) in the case group. Conclusion: A subset of parents with PKU patients have an anxiety or depressive disorder. Supportive services dealing with the parents of chronically ill children such as PKU are needed in order to reduce the level of anxiety. PMID:26492114

  1. Consequences of Variations in Genes that affect Dopamine in Prefrontal Cortex

    PubMed Central

    Diamond, Adele

    2008-01-01

    Patricia Goldman-Rakic played a groundbreaking role in investigating the cognitive functions subserved by dorsolateral prefrontal cortex and the key role of dopamine in that. The work discussed here builds on that including: 1) Studies of children predicted to have lower levels of prefrontal dopamine but otherwise basically normal brains (children treated for phenylketonuria [PKU]). Those studies changed medical guidelines, improving the children’s lives. 2) Studies of visual impairments (in contrast sensitivity and motion perception) in PKU children due to reduced retinal dopamine and due to excessive phenylalanine during the first postnatal weeks. Those studies, too, changed medical guidelines. 3) Studies of working memory and inhibitory control differences in typically developing children due to differences in catechol-O-methyltransferase (COMT) genotype, which selectively affect prefrontal dopamine levels. 4) Studies of gender differences in the effect of COMT genotype on cognitive performance in older adults. 5) A hypothesis about fundamental differences between attention deficit hyperactivity disorder (ADHD) that includes hyperactivity and ADHD of the inattentive type. Those disorders are hypothesized to differ in the affected neural system, underlying genetics, responsiveness to medication, comorbidities, and cognitive and behavioral profiles. These sound quite disparate but they all grew systematically out the base laid down by Patricia Goldman-Rakic. PMID:17725999

  2. The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report.

    PubMed

    Salvarinova-Zivkovic, R; Hartnett, C; Sinclair, G; Dix, D; Horvath, G; Lillquist, Y; Stockler-Ipsiroglu, S

    2012-04-01

    The metabolic control of phenylalanine levels is a challenge during illness. We present the metabolic management of a 6 year old boy with classical PKU who was diagnosed with stage III intraabdominal Burkit's lymphoma and underwent surgical resection and chemotherapy. The metabolic control during chemotherapy was achieved by the use of parenteral custom made amino acid solution and pro-active adjustment of intake. From the 94 obtained plasma phenylalanine (Phe) levels, 18.4% were above our clinic's recommended upper limit (360 μmol/L, 6 mg/dL) while 52.7% of Phe levels were below the recommended lower limit (120 μmol/L, 2 mg/dL). Phe levels above recommended range were associated with low caloric/protein intake, while levels below recommended range reflected the difficulty in achieving the full prescribed Phe intake. We recommend early institution of custom made amino acid solution with maximum amino acid content and caloric intake to provide optimal phenylalanine control. Administration of phenylalanine via regular intravenous amino acid solution may assist in avoiding low Phe levels when prescribed intake is compromised due to vomiting and other disease related illnesses. Use of custom made, phenylalanine free amino acid solution proved beneficial in the management of blood phenylalanine levels in a PKU patient during chemotherapy for Burkitt lymphoma. Copyright © 2012 Elsevier Inc. All rights reserved.

  3. Duty factor variation possibility from 1% to 100% with PKU microwave driven Cs-free volume H{sup −} sources

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Peng, S. X., E-mail: sxpeng@pku.edu.cn; Zhang, T.; Ren, H. T.

    Microwave driven cesium-free volume H{sup −} sources, that have the ability to deliver tens of mA H{sup −} at 35 keV both in CW and 10% duty factor (100 Hz/1 ms), were developed at Peking University (PKU) [S. X. Peng et al., in Proceeding of IPAC 2015, WEPWA027, Richmond, Virginia, USA, 3–8 May 2015]. Recently, special efforts were paid on the investigation of duty factor variation possibility from 1% to 100% with them. Most of the experiments were carried out with a pulsed length (τ) of 1 ms and different intervals of 99 ms, 49 ms, 39 ms, 29 ms,more » 19 ms, 9 ms, 4 ms, 2 ms, 1 ms, 0.5 ms, and 0 ms, respectively. Other experiments were focused on CW operation and fixed duty factor of 1%. Experimental results prove that PKU H{sup −} sources can deliver tens of mA H{sup −} at duty factor from 1% to 100%. The RF power efficiency increases steadily with the increasing of duty factor from 1% to CW at a fixed pulsed length. Under a given duty factor and pulsed length, RF power efficiency keeps constant and the H{sup −} current increases with RF power linearly. Details will be presented in the paper.« less

  4. Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

    PubMed

    Longo, Nicola; Arnold, Georgianne L; Pridjian, Gabriella; Enns, Gregory M; Ficicioglu, Can; Parker, Susan; Cohen-Pfeffer, Jessica L

    2015-04-01

    The Phenylketonuria (PKU) Demographics, Outcomes and Safety (PKUDOS) registry is designed to provide longitudinal safety and efficacy data on subjects with PKU who are (or have been) treated with sapropterin dihydrochloride. The PKUDOS population consists of 1189 subjects with PKU: N = 504 who were continuously exposed to sapropterin from date of registry enrollment, N = 211 who had intermittent exposure to the drug, and N = 474 with some other duration of exposure. Subjects continuously exposed to sapropterin showed an average 34% decrease in blood phenylalanine (Phe)--from 591 ± 382 μmol/L at baseline to 392 ± 239 μmol/L (p = 0.0009) after 5 years. This drop in blood Phe was associated with an increase in dietary Phe tolerance [from 1000 ± 959 mg/day (pre-sapropterin baseline) to 1539 ± 840 mg/day after 6 years]. Drug-related adverse events (AEs) were reported in 6% of subjects, were mostly considered non-serious, and were identified in the gastrointestinal, respiratory, and nervous systems. Serious drug-related AEs were reported in ≤ 1% of subjects. Similar safety and efficacy data were observed for children<4 years. Long-term data from the PKUDOS registry suggest that sapropterin has a tolerable safety profile and that continuous use is associated with a significant and persistent decrease in blood Phe and improvements in dietary Phe tolerance. Copyright © 2015. Published by Elsevier Inc.

  5. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

    PubMed

    Abiri, Maryam; Talebi, Saeed; Uitto, Jouni; Youssefian, Leila; Vahidnezhad, Hassan; Shirzad, Tina; Salehpour, Shadab; Zeinali, Sirous

    2016-10-01

    Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p.Ser231Pro and p.Ala300Ser in the PAH gene and p.Glu330Lys and p.Arg170Cys mutations in the BCKDHB gene. Genetic testing results in the second patient showed previously reported homozygous mutations of p.Arg261Gln in the PAH and p.Arg533Cys mutation in the HEXB gene. Genetic testing confirmed the clinical diagnosis of both diseases in both patients. To the best of our knowledge; this is the first report of the co-existence of two distinct genetic disorders in two individuals from Iran. Co-existent different IEMs in patients complicated the clinical diagnosis and management of the diseases.

  6. Post-Translational Incorporation of L-Phenylalanine into the C-Terminus of α-Tubulin as a Possible Cause of Neuronal Dysfunction

    PubMed Central

    Ditamo, Yanina; Dentesano, Yanela M.; Purro, Silvia A.; Arce, Carlos A.; Bisig, C. Gastón

    2016-01-01

    α-Tubulin C-terminus undergoes post-translational, cyclic tyrosination/detyrosination, and L-Phenylalanine (Phe) can be incorporated in place of tyrosine. Using cultured mouse brain-derived cells and an antibody specific to Phe-tubulin, we showed that: (i) Phe incorporation into tubulin is reversible; (ii) such incorporation is not due to de novo synthesis; (iii) the proportion of modified tubulin is significant; (iv) Phe incorporation reduces cell proliferation without affecting cell viability; (v) the rate of neurite retraction declines as level of C-terminal Phe incorporation increases; (vi) this inhibitory effect of Phe on neurite retraction is blocked by the co-presence of tyrosine; (vii) microtubule dynamics is reduced when Phe-tubulin level in cells is high as a result of exogenous Phe addition and returns to normal values when Phe is removed; moreover, microtubule dynamics is also reduced when Phe-tubulin is expressed (plasmid transfection). It is known that Phe levels are greatly elevated in blood of phenylketonuria (PKU) patients. The molecular mechanism underlying the brain dysfunction characteristic of PKU is unknown. Beyond the differences between human and mouse cells, it is conceivable the possibility that Phe incorporation into tubulin is the first event (or among the initial events) in the molecular pathways leading to brain dysfunctions that characterize PKU. PMID:27905536

  7. Phenylketonuria

    MedlinePlus

    ... inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is ... helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a ...

  8. Cardiac Teratogenicity in Mouse Maternal Phenylketonuria: Defining phenotype parameters and genetic background influences

    PubMed Central

    Seagraves, Nikki J.; McBride, Kim L.

    2012-01-01

    Maternal phenylketonuria (MPKU) is a syndrome including cardiovascular malformations (CVMs), microcephaly, intellectual impairment, and small for gestational age, caused by in-utero exposure to elevated serum phenylalanine (Phe) due to PKU in the mother. It is becoming a public health concern as more women with PKU reach child bearing age. Although a mouse model of PKU, BTBR Pahenu2, has been available for 20 years, it has not been well utilized for studying MPKU. We used this model to delineate critical parameters in Phe cardiovascular teratogenicity and study the effect of genetic background. Dosing and timing experiments were performed with the BTBR Pahenu2 mouse. A dose response curve was noted, with CVM rates at maternal serum Phe levels <360 μM (control), 360 – 600 μM (low), 600 – 900 μM (mid), and >900μM (high) of 11.86%, 16.67%, 30.86%, and 46.67% respectively. A variety of CVMs were noted on the BTBR background, including double outlet right ventricle (DORV), aortic arch artery (AAA)abnormalities, and ventricular septal defects (VSDs). Timed exposure experiments identified a teratogenic window from embryonic day 8.5-13.5, with higher rates of conotruncal and valve defects occurring in early exposure time and persistent truncus arteriosus (PTA) and aortic arch branching abnormalities occurring with late exposure. Compared to the BTBR strain, N10+ Pahenu2 congenics on the C3H/HeJ background had higher rates of CVMs in general and propensity to left ventricular outflow tract (LVOT) malformations, while the C57B/L6 background had similar CVM rates but predominately AAA abnormalities. We have delineated key parameters of Phe cardiovascular teratogenicity, demonstrated the utility of this MPKU model on different mouse strains, and shown how genetic background profoundly affects the phenotype. PMID:22951387

  9. What Is Phenylketonuria (PKU)?

    MedlinePlus

    ... have it? For more information... Acknowledgments Concept 15 : DNA and proteins are key molecules of the cell nucleus. Learn the basic chemistry of DNA and proteins. Concept 27 : Mutations are changes in ...

  10. How Is PKU Monitored?

    MedlinePlus

    ... important components of the clinic visit at the University of Washington. Food records are usually a 3 day diary of all foods and beverages eaten and the amounts consumed. These diaries should ...

  11. Seizures

    MedlinePlus

    ... of seizures. Some have mild symptoms without shaking. Considerations It may be hard to tell if someone ... Epilepsy Fever (particularly in young children ) Head injury Heart disease Heat illness ( heat intolerance ) High fever Phenylketonuria ( PKU ), ...

  12. Seeking a Roadmap to Becoming World Class: Strategic Planning at Peking University. Research & Occasional Paper Series: CSHE.11.13

    ERIC Educational Resources Information Center

    Guangkuan, Xie

    2013-01-01

    Strategic planning plays an important but sometimes controversial role in higher education. This paper examines how strategic planning works in Chinese universities, using Peking University as a case study. This essay discusses the rationale for why Peking University (PKU) decided to pursue status as a world-class university along with objectives…

  13. PKU (Phenylketonuria) in Your Baby

    MedlinePlus

    ... birth and infant mortality. Solving premature birth Featured articles Accomplishments and lessons learned since the establishment of ... The impact of premature birth on society Featured articles How long should you wait before getting pregnant ...

  14. What Is the Diet for PKU?

    MedlinePlus

    ... and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low ... food pattern eat special low protein breads and pastas. They are nearly free of phe, allow greater ...

  15. Genetics Home Reference: phenylketonuria

    MedlinePlus

    ... that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins ( an amino ... some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the ...

  16. Economic impact of feeding a phenylalanine-restricted diet to adults with previously untreated phenylketonuria.

    PubMed

    Brown, M C; Guest, J F

    1999-02-01

    The aim of the present study was to estimate the direct healthcare cost of managing adults with previously untreated phenylketonuria (PKU) for one year before any dietary restrictions and for the first year after a phenylalanine- (PHE-) restricted diet was introduced. The resource use and corresponding costs were estimated from medical records and interviews with health care professionals experienced in caring for adults with previously untreated PKU. The mean annual cost of caring for a client being fed an unrestricted diet was estimated to be 83 996 pound silver. In the first year after introducing a PHE-restricted diet, the mean annual cost was reduced by 20 647 pound silver to 63 348 pound silver as a result of a reduction in nursing time, hospitalizations, outpatient clinic visits and medications. However, the economic benefit of the diet depended on whether the clients were previously high or low users of nursing care. Nursing time was the key cost-driver, accounting for 79% of the cost of managing high users and 31% of the management cost for low users. In contrast, the acquisition cost of a PHE-restricted diet accounted for up to 6% of the cost for managing high users and 15% of the management cost for low users. Sensitivity analyses showed that introducing a PHE-restricted diet reduces the annual cost of care, provided that annual nursing time was reduced by more than 8% or more than 5% of clients respond to the diet. The clients showed fewer negative behaviours when being fed a PHE-restricted diet, which may account for the observed reduction in nursing time needed to care for these clients. In conclusion, feeding a PHE-restricted diet to adults with previously untreated PKU leads to economic benefits to the UK's National Health Service and society in general.

  17. What Conditions or Disorders are Commonly Associated with Down Syndrome?

    MedlinePlus

    ... Society Hib Vaccine PKU and Newborn Screening Congenital Hypothyroidism Annual NICHD Research Advances Snapshot of Early Development ... do infants without Down syndrome, for example. 2 Hypothyroidism . The thyroid is a gland that makes hormones ...

  18. Neonatal Screening Tests.

    ERIC Educational Resources Information Center

    Vigue, Charles L.

    1986-01-01

    Describes several laboratory experiments that are adaptations of clinical tests for certain genetic diseases in babies. Information and procedures are provided for tests for phenylketonuria (PKU), galactosemia, tyrosinemia, cystinuria, and mucopolysaccharidosis. Discusses the effects of each disease on the infants' development. (TW)

  19. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Zhang, A. L.; Chen, J. E.; State Key Laboratory of Nuclear Physics and Technology, Institute of Heavy Ion Physics, School of Physics, Peking University, Beijing 100871

    Negative hydrogen ion beam can be compensated by the trapping of ions into the beam potential. When the beam propagates through a neutral gas, these ions arise due to gas ionization by the beam ions. However, the high neutral gas pressure may cause serious negative hydrogen ion beam loss, while low neutral gas pressure may lead to ion-ion instability and decompensation. To better understand the space charge compensation processes within a negative hydrogen beam, experimental study and numerical simulation were carried out at Peking University (PKU). The simulation code for negative hydrogen ion beam is improved from a 2D particle-in-cell-Montemore » Carlo collision code which has been successfully applied to H{sup +} beam compensated with Ar gas. Impacts among ions, electrons, and neutral gases in negative hydrogen beam compensation processes are carefully treated. The results of the beam simulations were compared with current and emittance measurements of an H{sup −} beam from a 2.45 GHz microwave driven H{sup −} ion source in PKU. Compensation gas was injected directly into the beam transport region to modify the space charge compensation degree. The experimental results were in good agreement with the simulation results.« less

  20. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings.

    PubMed

    Anjema, Karen; van Rijn, Margreet; Verkerk, Paul H; Burgerhof, Johannes G M; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J

    2011-11-01

    In phenylketonuria, knowledge about the relation between behavior and plasma phenylalanine is scarce. The aim of this study was to determine whether high phenylalanine is associated with disturbed behavior noticed by the patient and or close environment (parents or partners). 48 early treated PKU patients (median age 8.5, range 0-35 years) participated (median phenylalanine concentration in total sample 277 (range 89-1171) μmol/l; and in patients <12 years 238 (range 89-521) μmol/l). After sending blood samples, patients or close environment were interviewed with a standardized questionnaire whether they noticed hyperactivity, annoying behavior, mood swings and introvert or extravert behavior. The interviewer as well as the respondents were blinded with regard to the phenylalanine concentration. Patients reported less deviant behavior compared to close environment. Mood swings were positively associated with phenylalanine concentrations in the total group (P=0.039) and patients <12 years (P=0.042). The relationships between temporary high phenylalanine concentrations and hyperactivity, annoying behavior, introvert and extravert behavior were not statistically significant. there is a positive association between phenylalanine concentrations and mood swings. Copyright © 2011 Elsevier Inc. All rights reserved.

  1. Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria

    PubMed Central

    Stroup, Bridget M.; Sawin, Emily A.; Murali, Sangita G.; Binkley, Neil; Hansen, Karen E.

    2017-01-01

    Background. Skeletal fragility is a complication of phenylketonuria (PKU). A diet containing amino acids compared with glycomacropeptide reduces bone size and strength in mice. Objective. We tested the hypothesis that amino acid medical foods (AA-MF) provide a high dietary acid load, subsequently increasing urinary excretion of renal net acid, calcium, and magnesium, compared to glycomacropeptide medical foods (GMP-MF). Design. In a crossover design, 8 participants with PKU (16–35 y) provided food records and 24-hr urine samples after consuming a low-Phe diet in combination with AA-MF and GMP-MF for 1–3 wks. We calculated potential renal acid load (PRAL) of AA-MF and GMP-MF and determined bone mineral density (BMD) measurements using dual X-ray absorptiometry. Results. AA-MF provided 1.5–2.5-fold higher PRAL and resulted in 3-fold greater renal net acid excretion compared to GMP-MF (p = 0.002). Dietary protein, calcium, and magnesium intake were similar. GMP-MF significantly reduced urinary excretion of calcium by 40% (p = 0.012) and magnesium by 30% (p = 0.029). Two participants had low BMD-for-age and trabecular bone scores, indicating microarchitectural degradation. Urinary calcium with AA-MF negatively correlated with L1–L4 BMD. Conclusion. Compared to GMP-MF, AA-MF increase dietary acid load, subsequently increasing urinary calcium and magnesium excretion, and likely contributing to skeletal fragility in PKU. The trial was registered at clinicaltrials.gov as NCT01428258. PMID:28546877

  2. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).

    PubMed

    Winn, Shelley R; Scherer, Tanja; Thöny, Beat; Harding, Cary O

    2016-01-01

    Central nervous system (CNS) deficiencies of the monoamine neurotransmitters, dopamine and serotonin, have been implicated in the pathophysiology of neuropsychiatric dysfunction in phenylketonuria (PKU). Increased brain phenylalanine concentration likely competitively inhibits the activities of tyrosine hydroxylase (TH) and tryptophan hydroxylase (TPH), the rate limiting steps in dopamine and serotonin synthesis respectively. Tetrahydrobiopterin (BH4) is a required cofactor for TH and TPH activity. Our hypothesis was that treatment of hyperphenylalaninemic Pah(enu2/enu2) mice, a model of human PKU, with sapropterin dihydrochloride, a synthetic form of BH4, would stimulate TH and TPH activities leading to improved dopamine and serotonin synthesis despite persistently elevated brain phenylalanine. Sapropterin (20, 40, or 100mg/kg body weight in 1% ascorbic acid) was administered daily for 4 days by oral gavage to Pah(enu2/enu2) mice followed by measurement of brain biopterin, phenylalanine, tyrosine, tryptophan and monoamine neurotransmitter content. A significant increase in brain biopterin content was detected only in mice that had received the highest sapropterin dose, 100mg/kg. Blood and brain phenylalanine concentrations were unchanged by sapropterin therapy. Sapropterin therapy also did not alter the absolute amounts of dopamine and serotonin in brain but was associated with increased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), dopamine and serotonin metabolites respectively, in both wild type and Pah(enu2/enu2) mice. Oral sapropterin therapy likely does not directly affect central nervous system monoamine synthesis in either wild type or hyperphenylalaninemic mice but may stimulate synaptic neurotransmitter release and subsequent metabolism. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Newborn Screening Tests

    MedlinePlus

    ... and adolescence and sometimes into adult life. This diet cuts out all high-protein foods, so people with PKU often need to ... appetite and are very irritable. A carefully controlled diet that cuts out certain high-protein foods containing the three amino acids can prevent ...

  4. What Are Common Treatments for Phenylketonuria (PKU)?

    MedlinePlus

    ... Snapshot of Pregnancy & Infant Development Advances Snapshot of Child Development Advances Snapshot of Adult & Family Health Advances NICHD ... a small amount of breast milk or regular infant formula to make sure the child ... for normal development but not enough to cause harm. Older children ...

  5. SOME FACTS AND FIGURES ABOUT CHILDREN AND YOUTH.

    ERIC Educational Resources Information Center

    Children's Bureau (DHEW), Washington, DC.

    IN QUESTION AND ANSWER FORM, THE PAMPHLET PRESENTS STATISTICAL DATA ON CHILDREN AND YOUTH PRIMARILY IN THE UNITED STATES. INFORMATION CONCERNS POPULATION, RESIDENCE, MOBILITY, POVERTY, WORKING MOTHERS, MARRIAGES, DIVORCES, BIRTHS, LIFE EXPECTANCY, MORTALITY, ILLNESS, HANDICAPS, HOSPITALIZATION, ADOPTIONS, PHENYLKETONURIA (PKU) LAWS, CHILD ABUSE…

  6. L-Phenylalanine concentration in blood of phenylketonuria patients: a modified enzyme colorimetric assay compared with amino acid analysis, tandem mass spectrometry, and HPLC methods.

    PubMed

    De Silva, Veronica; Oldham, Charlie D; May, Sheldon W

    2010-09-01

    Phenylketonuria (PKU) is an autosomal recessive disorder caused by an impaired conversion of L-phenylalanine (Phe) to L-tyrosine, typically resulting from a deficiency in activity of a hepatic and renal enzyme L-phenylalanine hydroxylase. The disease is characterized by an increased concentration of Phe and its metabolites in body fluids. A modified assay based on an enzymatic-colorimetric methodology was developed for measuring blood Phe levels in PKU patients; this method is designed for use with undeproteinized samples and avoids the use of solvents or amphiphilic agents. Thus, the method could be suitable for incorporation into a simple home-monitoring device. We report here on a comparison of blood Phe concentrations in PKU patients measured in undeproteinized plasma using this enzyme colorimetric assay (ECA), with values determined by amino acid analysis (AAA) of deproteinized samples, and HPLC and tandem mass spectrometry (MS/MS) analyses of dried blood spot (DBS) eluates. Pearson correlation coefficients of 0.951, 0.976 and 0.988 were obtained when AAA-measured Phe concentrations were compared with the ECA-, HPLC- or MS/MS-measured values, respectively. A Bland-Altman analysis revealed that mean Phe concentrations determined using AAA were on average 65 μmol/L lower than values measured by our ECA. These results may be the result of minimizing the manipulations performed on the patient sample compared with AAA, HPLC, and MS/MS methods, which involve plasma deproteinization or DBS elution and derivatization. The results reported here confirm that Phe concentrations determined by our ECA method are comparable to those determined by other widely used methods for a broad range of plasma Phe concentrations.

  7. Language processing and executive functions in early treated adults with phenylketonuria (PKU).

    PubMed

    De Felice, Sara; Romani, Cristina; Geberhiwot, Tarekegn; MacDonald, Anita; Palermo, Liana

    We provide an in-depth analysis of language functions in early-treated adults with phenylketonuria (AwPKUs, N = 15-33), as compared to age- and education-matched controls (N = 24-32; N varying across tasks), through: a. narrative production (the Cinderella story), b. language pragmatics comprehension (humour, metaphors, inferred meaning), c. prosody discrimination d. lexical inhibitory control and planning (Blocked Cyclic Naming; Hayling Sentence Completion Test, Burgess & Shallice, 1997). AwPKUs exhibited intact basic language processing (lexical retrieval, phonology/articulation, sentence construction). Instead, deficits emerged in planning and reasoning abilities. Compared to controls, AwPKUs were: less informative in narrative production (lower rate of Correct Information Units); slower in metaphorical understanding and inferred meaning; less accurate in focused lexical-search (Hayling test). These results suggest that i) executive deficits in PKU cannot be explained by an accumulation of lower-order deficits and/or general speed impairments, ii) executive functions engage dedicated neurophysiological resources, rather than simply being an emergent property of lower-level systems.

  8. Rapid determination of amino acids in neonatal blood samples based on derivatization with isobutyl chloroformate followed by solid-phase microextraction and gas chromatography/mass spectrometry.

    PubMed

    Deng, Chunhui; Li, Ning; Zhang, Xiangmin

    2004-01-01

    The purpose of this study was to develop a simple, rapid and sensitive analytical method for determination of amino acids in neonatal blood samples. The developed method involves the employment of derivatization and a solid-phase microextraction (SPME) technique together with gas chromatography/mass spectrometry (GC/MS). Amino acids in blood samples were derivatized by a mixture of isobutyl chloroformate, methanol and pyridine, and the N(O,S)-alkoxycarbonyl alkyl esters thus formed were headspace extracted by a SPME fiber. Finally, the extracted analytes on the fiber were desorbed and detected by GC/MS in electron impact (EI) mode. L-Valine, L-leucine, L-isoleucine, L-phenylanaline and L-tyrosine in blood samples were quantitatively analyzed by measurement of the corresponding N(O,S)-alkoxycarbonyl alkyl esters using an external standard method. SPME conditions were optimized, and the method was validated. The method was applied to diagnosis of neonatal phenylkenuria (PKU) and maple syrup urine disease (MSUD) by the analyses of five amino acids in blood samples. The results showed that the proposed method is a potentially powerful tool for simultaneous screening for neonatal PKU and MSUD. Copyright (c) 2004 John Wiley & Sons, Ltd.

  9. Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource.

    PubMed

    Durham-Shearer, S J; Judd, P A; Whelan, K; Thomas, J E

    2008-10-01

    There is a lack of dedicated resources for adolescent and adult patients with phenylketonuria (PKU) and few studies have examined dietary practices within this group. One hundred and seventy-seven PKU patients were sent questionnaires to assess dietary compliance and the preferred format for an educational resource. Seventy-one patients responded; 32 following diet were recruited to assess the resource's impact on test variables. The results were compared for the intervention group (n = 22) and control group (n = 10) at baseline, and 1 and 6 months after resource intervention. Most patients were aware of dietary recommendations, although this did not always result in compliance. The preferred resource format was a filofax-style folder with inserts (P < 0.05). There was a significant difference in the extent of change in knowledge score between baseline and 1 month in favour of the intervention group (P < 0.05). The improvement in knowledge was not accompanied by a significant improvement in measures of compliance. These findings add to the knowledge base about this patient group and support the use of patient involvement in resource development. It is likely that the test parameters used were not sensitive enough to pick up subtle and longer-term effects on compliance.

  10. Early-Treated Phenylketonuria: Neuropsychologic Consequences.

    ERIC Educational Resources Information Center

    Brunner, Robert L.; And Others

    1983-01-01

    The neuropsychologic performance of 27 children (about 6 to 13 years old) with early-treated phenylketonuria (PKU) was evaluated and correlated with their serum phenylalanine concentrations at several ages. (Author/SEW) Journal Availability: The Journal of Pediatrics; The C. V. Mosby Company, 11830 Westline Industrial Drive, St. Louis, MO 63141.

  11. Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

    PubMed

    Vieira Neto, Eduardo; Laranjeira, Francisco; Quelhas, Dulce; Ribeiro, Isaura; Seabra, Alexandre; Mineiro, Nicole; D M Carvalho, Lilian; Lacerda, Lúcia; G Ribeiro, Márcia

    2018-05-10

    Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula. However, rare European, African or pathogenic variants that are characteristic of the admixed population of the state might also be found. A total of 102 patients were included in this study. Genomic DNA was isolated from dried blood spots. Sanger sequencing was used for PAH gene variant identification. Deletions and duplications were also screened using MLPA analysis. Haplotypes were also determined. Nine (8.8%) homozygous and 93 (91.2%) compound heterozygous patients were found. The spectrum included 37 causative mutations. Missense, nonsense, and splicing pathogenic variants corresponded to 63.7%, 2.9%, and 22.6% of the mutant alleles, respectively. Large (1.5%), and small deletions, inframe (5.4%) and with frameshift (3.9%), comprised the remainder. The most frequent pathogenic variants were: p.V388M (12.7%), p.R261Q (11.8%), IVS10-11G>A (10.3%), IVS2+5G>C (6.4%), p.S349P (6.4%), p.R252W (5.4%), p.I65T (4.4%), p.T323del (4.4%), and p.P281L (3.4%). One novel variant was detected: c.934G>T (p.G312C) [rs763115697]. The three most frequent pathogenic variants in our study (34.8% of the alleles) were also the most common in other Brazilian states, Portugal, and Spain (p.V388M, p.R261Q, IVS10-11G>A), corroborating that the Iberian Peninsula is the major source of PAH mutations in Rio de Janeiro. Pathogenic variants that have other geographical origins, such IVS2+5G>C, p.G352Vfs*48, and IVS12+1G>A were also detected. Genetic drift and founder effect may have also played a role in the mutation spectrum we observed. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  12. Prefrontal Cortex Cognitive Deficits in Children Treated Early and Continuously for PKU.

    ERIC Educational Resources Information Center

    Diamond, Adele; Prevor, Meredith B.; Druin, Donald P.; Callender, Glenda

    1997-01-01

    Hypothesized that elevated ratio of phenylalanine to tyrosine in blood of children with phenylketonuria uniquely affects cognitive functions dependent on prefrontal cortex because of the special sensitivity of prefrontally projecting dopamine neurons to small decreases in tyrosine. Found that children whose phenylalanine levels were three to five…

  13. A Current Look at Phenylketonuria (PKU).

    ERIC Educational Resources Information Center

    Fischer, Margaret

    Research was reviewed on the current status of phenylketonuria, an hereditary amino acid metabolic disorder that can cause severe mental retardation, physical complications, and emotional difficulties if not detected and treated early in childhood. A majority of the research cited was published in the 1960's. Topics covered were: discovery of…

  14. Classroom Demonstration of a Spot Test for Pbenylpyruvic Acid and Its Relationship to Phenylketonuria

    ERIC Educational Resources Information Center

    Halkides, Christopher J.

    2004-01-01

    Classical phenylketonuria (PKU) is caused by a lack activity in the enzyme phenylalanine hydroxylase, leading to elevated concentrations of phenylalanine in the blood. A simple demonstration and three advanced demonstrations of a spot test for phenylpyruvic acid and its relationship to phenylketonuria are given.

  15. Recommended Guidelines for PKU Programs.

    ERIC Educational Resources Information Center

    Children's Bureau (DHEW), Washington, DC.

    A discussion of screening tests for phenylketonuria recommends and provides some data on two tests, lists five disadvantages of urine tests, and discusses three new tests. Also considered are the role of the central laboratory facility and seven suggestions for screening different types of infants at different times. Treatment or followup programs…

  16. PHENYLKETONURIA, DETECTION IN THE NEWBORN INFANT AS A ROUTINE HOSPITAL PROCEDURE.

    ERIC Educational Resources Information Center

    GUTHRIE, ROBERT; WHITNEY, STEWART

    A FIELD TRIAL OF AN INHIBITION ASSAY METHOD FOR SCREENING FOR PHENYLKETONURIA (PKU) TESTED MORE THAN 400,000 NEWBORN INFANTS PRIOR TO DISCHARGE FROM THE HOSPTIAL. IN ALL, 39 CASES WERE FOUND, A HIGHER INCIDENCE THAN HAD PREVIOUSLY BEEN EXPECTED. THE PRACTICALITY OF THE INHIBITION ASSAY METHOD WAS ALSO DEMONSTRATED. THE REPORT DETAILS THE TRIAL'S…

  17. PlantTFDB 4.0: toward a central hub for transcription factors and regulatory interactions in plants.

    PubMed

    Jin, Jinpu; Tian, Feng; Yang, De-Chang; Meng, Yu-Qi; Kong, Lei; Luo, Jingchu; Gao, Ge

    2017-01-04

    With the goal of providing a comprehensive, high-quality resource for both plant transcription factors (TFs) and their regulatory interactions with target genes, we upgraded plant TF database PlantTFDB to version 4.0 (http://planttfdb.cbi.pku.edu.cn/). In the new version, we identified 320 370 TFs from 165 species, presenting a more comprehensive genomic TF repertoires of green plants. Besides updating the pre-existing abundant functional and evolutionary annotation for identified TFs, we generated three new types of annotation which provide more directly clues to investigate functional mechanisms underlying: (i) a set of high-quality, non-redundant TF binding motifs derived from experiments; (ii) multiple types of regulatory elements identified from high-throughput sequencing data; (iii) regulatory interactions curated from literature and inferred by combining TF binding motifs and regulatory elements. In addition, we upgraded previous TF prediction server, and set up four novel tools for regulation prediction and functional enrichment analyses. Finally, we set up a novel companion portal PlantRegMap (http://plantregmap.cbi.pku.edu.cn) for users to access the regulation resource and analysis tools conveniently. © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

  18. Genome-scale fluxes predicted under the guidance of enzyme abundance using a novel hyper-cube shrink algorithm.

    PubMed

    Xie, Zhengwei; Zhang, Tianyu; Ouyang, Qi

    2018-02-01

    One of the long-expected goals of genome-scale metabolic modelling is to evaluate the influence of the perturbed enzymes on flux distribution. Both ordinary differential equation (ODE) models and constraint-based models, like Flux balance analysis (FBA), lack the capacity to perform metabolic control analysis (MCA) for large-scale networks. In this study, we developed a hyper-cube shrink algorithm (HCSA) to incorporate the enzymatic properties into the FBA model by introducing a pseudo reaction V constrained by enzymatic parameters. Our algorithm uses the enzymatic information quantitatively rather than qualitatively. We first demonstrate the concept by applying HCSA to a simple three-node network, whereby we obtained a good correlation between flux and enzyme abundance. We then validate its prediction by comparison with ODE and with a synthetic network producing voilacein and analogues in Saccharomyces cerevisiae. We show that HCSA can mimic the state-state results of ODE. Finally, we show its capability of predicting the flux distribution in genome-scale networks by applying it to sporulation in yeast. We show the ability of HCSA to operate without biomass flux and perform MCA to determine rate-limiting reactions. Algorithm was implemented by Matlab and C ++. The code is available at https://github.com/kekegg/HCSA. xiezhengwei@hsc.pku.edu.cn or qi@pku.edu.cn. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  19. A maximum likelihood map of chromosome 1.

    PubMed Central

    Rao, D C; Keats, B J; Lalouel, J M; Morton, N E; Yee, S

    1979-01-01

    Thirteen loci are mapped on chromosome 1 from genetic evidence. The maximum likelihood map presented permits confirmation that Scianna (SC) and a fourteenth locus, phenylketonuria (PKU), are on chromosome 1, although the location of the latter on the PGM1-AMY segment is uncertain. Eight other controversial genetic assignments are rejected, providing a practical demonstration of the resolution which maximum likelihood theory brings to mapping. PMID:293128

  20. Chiral Topological Orders in an Optical Raman Lattice (Open Source)

    DTIC Science & Technology

    2016-03-01

    towhomany correspondence should be addressed. E-mail: xiongjunliu@pku.edu.cn Keywords: optical lattice, gaugefields, Chern insulator , topological order...onlymeasuring the Bloch states in the two symmetricmomentumpoints of the first Brillouin zone. Further, we also show that heating in the present optical Raman...spontaneous decay of excited states. Realization of a gapped insulating topological state typically necessitates an optical lattice and synthetic

  1. Motor development skills of 1- to 4-year-old Iranian children with early treated phenylketonuria.

    PubMed

    Nazi, Sepideh; Rohani, Farzaneh; Sajedi, Firoozeh; Biglarian, Akbar; Setoodeh, Arya

    2014-01-01

    Objective : To gauge the gross and fine motor development of early treated phenylketonuria (ETPKU) in children in the age range of 1-4 years. Methods : A cross-sectional analytic study was conducted in PKU clinics (reference clinics for PKU follow-up), Tehran, Iran. Seventy children with ETPKU were selected as the case group for the study. ETPKU children were those with early and continuous treatment with a phenylalanine-restricted diet (the mean of blood phenylalanine level during the recent 6 months was 2-6 mg/dL or 120-360 μmol/L). Also, 100 healthy and normal children matched with the ETPKU group for age were randomly selected from 4 kindergartens in four parts of Tehran as a control group. The measurements consisted of a demographic questionnaire, Peabody Developmental Motor Scale-2 (PDMS-2), and pediatrician assessment. Motor quotients were determined by PDMS-2 and then compared in both groups by two independent samples t-test. Results : The mean ages in case and control group were 28.5 (± 11.6) and 29.7 (± 11.3) months, respectively. Comparison of the mean fine, gross, and total developmental motor quotients (DMQs) showed statistically significant differences between the two groups (p < 0.05). The fine and total DMQs of ETPKU children were also correlated with age. In addition, there was a negative correlation between the phenylalanine level and fine (p < 0.001) and total (p = 0.001) DMQs. Conclusion : It seems that ETPKU Iranian children, regardless of following a phenylalanine-restricted diet or not, have lower motor development. It is recommended to plan programs for early detection and intervention of developmental delays in these children.

  2. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

    PubMed

    van Spronsen, F J; van Rijn, M; Dorgelo, B; Hoeksma, M; Bosch, A M; Mulder, M F; de Klerk, J B C; de Koning, T; Rubio-Gozalbo, M Estela; de Vries, M; Verkerk, P H

    2009-02-01

    The clinical severity of phenylalanine hydroxylase deficiency is usually defined by either pre-treatment phenylalanine (Phe) concentration or Phe tolerance at 5 years of age. So far, little is known about the course of Phe tolerance or the ability of both pre-treatment Phe and Phe tolerance at early age to predict Phe tolerance at later age. This study was conducted to investigate the course of the individual Phe tolerance and to assess the predictive value of both the pre-treatment Phe concentration and Phe tolerance at 1 and 6 months and 1, 2, 3 and 5 years for Phe tolerance at 10 years of age. Data on blood Phe concentration, prescribed Phe intake and weight of 213 early and continuously treated Dutch PKU patients up to 10 years of age were collected. Data acquired under good metabolic control were used in the study. Tolerance was expressed in mg/day and mg/kg per day. Data at 1 and 6 months and at 1, 2, 3 and 5 years of 61, 58, 59, 57, 56 and 59 patients were included for comparison with the Phe tolerance at 10 years. Phe tolerances (mg/kg per day) at 2, 3 and 5 years showed a clear correlation with the tolerance at 10 years of age (r = 0.608, r = 0.725 and r = 0.661). Results for tolerance expressed as mg/day were comparable. Pre-treatment Phe concentrations did not correlate significantly with the tolerance. Pre-treatment Phe is unreliable but Phe tolerance is a reliable predictor of the tolerance at 10 years of age, starting at 2 years of age.

  3. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

    PubMed

    Liu, Ning; Huang, Qiuying; Li, Qingge; Zhao, Dehua; Li, Xiaole; Cui, Lixia; Bai, Ying; Feng, Yin; Kong, Xiangdong

    2017-10-05

    Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. In total, 655 PKU patients and their families were recruited for this study; each proband was diagnosed both clinically and biochemically with phenylketonuria. Subjects were sequentially screened for single-base variants and exon deletions or duplications within PAH via direct Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). A spectrum of 174 distinct PAH variants was identified: 152 previously documented variants and 22 novel variants. While single-base variants were distributed throughout the 13 exons, they were particularly concentrated in exons 7 (33.3%), 11 (14.2%), 6 (13.2%), 12 (11.0%), 3 (10.4%), and 5 (4.4%). The predominant variant was p.Arg243Gln (17.7%), followed by Ex6-96A > G (8.3%), p.Val399 = (6.4%), p.Arg53His (4.7%), p.Tyr356* (4.7%), p.Arg241Cys (4.6%), p.Arg413Pro (4.6%), p.Arg111* (4.4%), and c.442-1G > A (3.4%). Notably, two patients were also identified as carrying de novo variants. The composition of PAH gene variants in this Han population from Northern China was distinct from those of other ethnic groups. As such, the construction of a PAH gene variant database for Northern China is necessary to lay a foundation for genetic-based diagnoses, prenatal diagnoses, and population screening.

  4. A New High-Resolution N2O Emission Inventory for China in 2008

    NASA Astrophysics Data System (ADS)

    Shang, Z.; Zhou, F.; Ciais, P.; Tao, S.; Piao, S.; Raymond, P. A.; He, C.; Li, B.; Wang, R.; Wang, X.; Peng, S.; Zeng, Z.; Chen, H.; Ying, N.; Hou, X.; Xu, P.

    2014-12-01

    The amount and geographic distribution of N2O emissions over China remain largely uncertain. Most of existing emission inventories use uniform emission factors (EFs) and the associated parameters and apply spatial proxies to downscale national or provincial data, resulting in the introduction of spatial bias. In this study, county-level and 0.1° × 0.1° gridded anthropogenic N2O emission inventories for China (PKU-N2O) in 2008 are developed based on high-resolution activity data and regional EFs and parameters. These new estimates are compared with estimates from EDGAR v4.2, GAINS-China, National Development and Reform Commission of China (NDRC), and with two sensitivity tests: one that uses high-resolution activity data but the default IPCC methodology (S1) and the other that uses regional EFs and parameters but starts from coarser-resolution activity data. The total N2O emissions are 2150 GgN2O/yr (interquartile range from 1174 to 2787 GgN2O/yr). Agriculture contributes 64% of the total, followed by energy (17%), indirect emissions (12%), wastes (5%), industry (2.8%), and wildfires (0.2%). Our national emission total is 17% greater than that of the EDGAR v4.2 global product sampled over China and is also greater than the GAINS-China, NDRC, and S1 estimates by 10%, 50%, and 17%, respectively. We also found that using uniform EFs and parameters or starting from national/provincial data causes systematic spatial biases compared to PKU-N2O. In addition, the considerable differences between the relative contributions of the six sectors across the six Agro-Climate Zones primarily reflect the different distributions of industrial activities and land use. Eastern China (8.7% area of China) is the largest contributor of N2O emissions and accounts for nearly 25% of the total. Spatial analysis also shows nonlinear relationships between N2O emission intensities and urbanization. Per-capita and per-GDP N2O emissions increase gradually with an increase in the urban population fraction from 0.3 to 0.9 among 2884 counties, and N2O emission density increases with urban expansion. Moreover, additional experiments and the use of a reliable data-driven approach or process-based models can improve the spatial resolution and reduce the uncertainties in PKU-N2O, especially from agricultural soils and manure management.

  5. Screening Out Controversy: Human Genetics, Emerging Techniques of Diagnosis, and the Origins of the Social Issues Committee of the American Society of Human Genetics, 1964-1973.

    PubMed

    Mitchell, M X

    2017-05-01

    In the years following World War II, and increasingly during the 1960s and 1970s, professional scientific societies developed internal sub-committees to address the social implications of their scientific expertise (Moore, Disrupting Science: Social Movements, American Scientists, and the Politics of the Military, 1945-1975. Princeton: Princeton University Press, 2008). This article explores the early years of one such committee, the American Society of Human Genetics' "Social Issues Committee," founded in 1967. Although the committee's name might suggest it was founded to increase the ASHG's public and policy engagement, exploration of the committee's early years reveals a more complicated reality. Affronted by legislators' recent unwillingness to seek the expert advice of human geneticists before adopting widespread neonatal screening programs for phenylketonuria (PKU), and feeling pressed to establish their relevance in an increasingly resource-scarce funding environment, committee members sought to increase the discipline's expert authority. Painfully aware of controversy over abortion rights and haunted by the taint of the discipline's eugenic past, however, the committee proceeded with great caution. Seeking to harness interest in and assert professional control over emerging techniques of genetic diagnosis, the committee strove to protect the society's image by relegating ethical and policy questions about their use to the individual consciences of member scientists. It was not until 1973, after the committee's modest success in organizing support for a retrospective public health study of PKU screening and following the legalization of abortion on demand, that the committee decided to take a more publicly engaged stance.

  6. [Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].

    PubMed

    He, Jiang; Wang, Hui-Zhen; Xu, Fa-Liang; Yang, Xi; Wang, Rui; Zou, Hong-Yun; Yu, Wu-Zhong

    2015-11-01

    To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis. Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic sequences of PAH gene by PCR and DNA sequencing in 49 children with PKU and their parents from the Qinghai area of China. A total of 30 different mutations were detected in 80 out of 98 mutant alleles (82%), including 19 missense (63%), 5 nonsense (17%), 3 splice-site (10%) and 3 deletions (10%). Most mutations were detected in exons 3, 6, 7, 11 and intron 4 of PAH gene. The most frequent mutations were p.R243Q (19%), IVS4-1G>A (9%), p.Y356X (7%) and p.EX6-96A>G(5%). Two novel mutations p.N93fsX5 (c.279-282delCATC) and p.G171E (c.512G>A) were found. p.H64fsX9(c.190delC) was documented for the second time in Chinese PAH gene. The mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China while significantly different from that in the populations from some provinces in southern China, Japan and Europe. The mutations of PAH gene in the Qinghai area of China demonstrate a unique diversity, complexity and specificity.

  7. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.

    PubMed

    Koch, R; Moseley, K; Ning, J; Romstad, A; Guldberg, P; Guttler, F

    1999-06-01

    The potential benefits to society of treating late-diagnosed mentally retarded persons with phenylketonuria were investigated. In order to ascertain the effects of late dietary intervention, the charts of 124 adults with PKU seen in the metabolic service at the Childrens Hospital of Los Angeles were reviewed. Fifty-nine were diagnosed later than 3 months of age and were over the age of 18 years. They were followed up with medical, psychological, and nutritional assessments. Genotyping was also performed. Twenty-eight have remained on a phenylalanine-restricted diet during the intervening years. All but 3 of the 28 late-diagnosed PKU persons who remained on a restricted diet showed significant intellectual improvement. Seven are able to attend college, 9 are employed, and 12 are attending workshops and/or day care programs. The result of treatment with the phenylalanine-restricted diet was that these individuals could participate in society and were able to arrest the neurodegenerative course characteristic of persons with mutations classified as severe in the phenylalanine hydroxylase gene. We conclude that society could benefit substantially by providing a phenylalanine-restricted diet for late-diagnosed mentally retarded persons with phenylketonuria. Eighteen of 28 such persons who otherwise would have required residential care are living independently. Copyright 1999 Academic Press.

  8. Biochemical Evaluation of Phenylalanine Ammonia Lyase from Endemic Plant Cyathobasis fruticulosa (Bunge) Aellen. for the Dietary Treatment of Phenylketonuria

    PubMed Central

    Aydaş, Selcen Babaoğlu; Aslım, Belma

    2016-01-01

    Summary Enzyme substitution therapy with the phenylalanine ammonia lyase (PAL) is a new approach to the treatment of patients with phenylketonuria (PKU). This enzyme is responsible for the conversion of phenylalanine to trans-cinnamic acid. We assessed the PAL enzyme of the endemic plant Cyathobasis fruticulosa (Bunge) Aellen. for its possible role in the dietary treatment of PKU. The enzyme was found to have a high activity of (64.9±0.1) U/mg, with the optimum pH, temperature and buffer (Tris–HCl and l-phenylalanine) concentration levels of pH=8.8, 37 °C and 100 mM, respectively. Optimum enzyme activity was achieved at pH=4.0 and 7.5, corresponding to pH levels of gastric and intestinal juice, and NaCl concentration of 200 mM. The purification of the enzyme by 1.87-fold yielded an activity of 98.6 U/mg. PAL activities determined by HPLC analyses before and after purification were similar. Two protein bands, one at 70 and the other at 23 kDa, were determined by Western blot analysis of the enzyme. This enzyme is a potential candidate for serial production of dietary food and biotechnological products. PMID:27956861

  9. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

    PubMed

    Bercovich, D; Elimelech, A; Yardeni, T; Korem, S; Zlotogora, J; Gal, N; Goldstein, N; Vilensky, B; Segev, R; Avraham, S; Loewenthal, R; Schwartz, G; Anikster, Y

    2008-05-01

    Hyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanine hydroxylase deficiency, causing phenylketonuria (PKU). Among 159 Israeli patients (Jews, Muslim and Christian Arabs and Druze) with HPA, in whom at least one of the mutations was characterized, a total of 43 different mutations were detected, including seven novel ones. PKU was very rare among Ashkenazi Jews and relatively frequent among Jews from Yemen, the Caucasian Mountains, Bukhara and Tunisia. The mutations responsible for the high frequency were: exon3del (Yemenite Jews), L48S (Tunisian Jews) and E178G, P281L and L48S (Jews from the Caucasian Mountains and Bukhara). Among the non-Jewish Israeli citizens, the disease was relatively frequent in the Negev and in the Nazareth vicinity, and in many localities a unique mutation was detected, often in a single family. While marked genetic heterogeneity was observed in the Arab and Jewish populations, only one mutation A300S, was frequent in all of the communities. Several of the other frequent mutations were shared by the non-Ashkenazi Jews and Arabs; none were mutual to Ashkenazi Jews and Arabs.

  10. Estimated tetrachloroethylene (C2Cl4) emissions for 1992 2014 in China and a high resolution gridded emission in 2010

    NASA Astrophysics Data System (ADS)

    Bie, P.; Li, Z.; Hu, J.

    2016-12-01

    Estimated tetrachloroethylene (C2Cl4) emissions for 1992 2014 in China and a high resolution gridded emission in 2010 Pengju Bie1, Zhifang Li1, Jianxin Hu1,*1Collaborative Innovation Center for Regional Environmental Quality, College of Environmental Sciences and Engineering, Peking University, Beijing 100871, China *Corresponding author E-mail: jianxin@pku.edu.cnTel: 86-10-62756593 Fax: 86-10-62760755 Evaluating the contribution from tetrachloroethylene (C2Cl4, PCE) to stratospheric halogen loading requires the knowledge of the spatial and temporal variability of emissions, and thus the tropospheric degradation and removal. And the short atmospheric lifetime (90 days) leads to a large regional variability. This study estimated the emissions of China from 1992 to 2014, based on emission functions and aggregated information given reasonable uncertainties. Results show that the emissions increased from 5.3(3.8 7.0) Gg to 176.9(131.2 232.1) Gg with a moderate growth rate of 17.3%/yr during 1992 2014. More than 97.3% of emissions stemmed from solvents sector. Considering the GDP data availability and the comparable estimate to that of top-down method in 2010, we developed a gridded emission inventory on a 0.5°×0.5° latitude-longitude grid of this year. Due to the more advanced social-economic conditions and more intensive industrial establishment, greater PCE emissions were observed to originate from East China, especially for Jiangsu and Zhejiang provinces, and Beijing-Tianjin-Hebei region and Pearl River Delta (PRD) region.

  11. Molecular basis of mild hyperphenylalaninaemia in Poland.

    PubMed Central

    Zekanowski, C; Nowacka, M; Cabalska, B; Bal, J

    1997-01-01

    The major cause of the different forms of hyperphenylalaninaemia (HPA) is mutations in the gene encoding phenylalanine hydroxylase (PAH). The aim of this study was to determine the mutations responsible for mild forms of HPA and to relate different clinical phenotypes of HPA patients to their PAH genotypes. Four "mild" mutations, including the most frequent A403V and R297H mutations, occurred exclusively in mild hyperphenylalaninaemia (MHP). Mutations A104D, R243Q, R241H, and Y414C were detected in patients with mild phenylketonuria (mild PKU) only. These results may be useful in establishing a molecular differential diagnosis for PAH deficiency in Poland. PMID:9429153

  12. Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.

    PubMed

    Harding, Cary O; Amato, R Stephen; Stuy, Mary; Longo, Nicola; Burton, Barbara K; Posner, John; Weng, Haoling H; Merilainen, Markus; Gu, Zhonghua; Jiang, Joy; Vockley, Jerry

    2018-05-01

    Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evaluate the effects of pegvaliase treatment on blood phenylalanine (Phe) and neuropsychiatric outcomes in adults with PKU. PRISM-2 is a 4-part, Phase 3 study that enrolled adults with PKU receiving pegvaliase treatment (initiated in a prior Phase 2 or Phase 3 study). The RDT, Part 2 of PRISM-2, was an 8-week trial that evaluated change in blood Phe concentrations, neuropsychiatric and neurocognitive measures, and safety outcomes in PRISM-2 participants who had achieved at least a 20% blood Phe reduction from pre-treatment baseline with pegvaliase treatment. Participants were randomized 2:1 to either continue pegvaliase (20 mg/day or 40 mg/day) or switch to matching placebo. The pooled pegvaliase group enrolled 66 participants and each placebo group enrolled 14 participants. The primary endpoint of change in blood Phe concentration from RDT entry to RDT Week 8 was met with clinically meaningful and statistically significant differences between the pegvaliase and placebo groups. Mean (SD) blood Phe at the beginning of the RDT when all participants were receiving pegvaliase was 563.9 μM (504.6) in the group assigned to the 20 mg/day placebo group (n = 14), 508.2 μM (363.7) in those assigned to the 40 mg/day placebo group (n = 14), and 503.9 μM (520.3) in those assigned to continue pegvaliase treatment (n = 58). At Week 8 of the RDT, the least squares mean change (95% confidence interval) in blood Phe was 949.8 μM (760.4 to 1139.1) for the 20 mg/day placebo group and 664.8 μM (465.5 to 864.1) for the 40 mg/day placebo group in comparison to 26.5 μM (-68.3 to 121.3) for the pooled (20 mg/day and 40 mg/day) pegvaliase group (P < 0.0001 for pooled pegvaliase group vs each placebo group). Adverse events (AEs) were usually lower in the pooled placebo group when compared to the pooled pegvaliase group. The most common AEs for the pooled pegvaliase and pooled placebo groups were arthralgia (13.6% and 10.3%, respectively), headache (12.1% and 24.1%), anxiety (10.6% and 6.9%), fatigue (10.6% and 10.3%), and upper respiratory tract infection (1.5% and 17.2%). Mean blood Phe reduction was sustained in the pegvaliase group, while placebo groups had mean blood Phe concentration increase toward pre-treatment baseline levels. Results from this study confirmed the efficacy of pegvaliase in maintaining reduced blood Phe concentrations with a manageable safety profile for most participants. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  13. Glycomacropeptide in children with phenylketonuria: does its phenylalanine content affect blood phenylalanine control?

    PubMed

    Daly, A; Evans, S; Chahal, S; Santra, S; MacDonald, A

    2017-08-01

    In phenylketonuria (PKU), there are no data available for children with respect to evaluating casein glycomacropeptide (CGMP) as an alternative to phenylalanine-free protein substitutes [Phe-free L-amino acid (AA)]. CGMP contains a residual amount of phenylalanine, which may alter blood phenylalanine control. In a prospective 6-month pilot study, we investigated the effect on blood phenylalanine control of CGMP-amino acid (CGMP-AA) protein substitute in 22 PKU subjects (13 boys, nine girls), median age (range) 11 years (6-16 years). Twelve received CGMP-AA and nine received Phe-free L-AA, (1 CGMP-AA withdrawal). Subjects partially or wholly replaced Phe-free L-AA with CGMP-AA. If blood phenylalanine exceeded the target range, the CGMP-AA dose was reduced and replaced with Phe-free L-amino acids. The control group remained on Phe-free L-AAs. Phenylalanine, tyrosine and Phe : Tyr ratio concentrations were compared with the results for the previous year. In the CGMP-AA group, there was a significant increase in blood phenylalanine concentrations (pre-study, 275 μmol L -1 ; CGMP-AA, 317 μmol L -1 ; P = 0.02), a decrease in tyrosine concentrations (pre-study, 50 μmol L -1 ; CGMP-AA, 40 μmol L -1 ; P = 0.03) and an increase in Phe : Tyr ratios (pre-study, Phe : Tyr 4.9:1; CGMP-AA, Phe : Tyr 8:1; P = 0.02). In the control group there was a non-significant fall in phenylalanine concentrations (pre-study 325μmol/L: study 280μmol/L [p = 0.9], and no significant changes for tyrosine or phe/tyr ratios [p = 0.9]. Children taking the CGMP-AA found it more acceptable to L-AA. Blood phenylalanine control declined with CGMP-AA but, by titrating the dose of CGMP-AA, blood phenylalanine control remained within target range. The additional intake of phenylalanine may have contributed to the change in blood phenylalanine concentration. CGMP-AA use requires careful monitoring in children. © 2017 The British Dietetic Association Ltd.

  14. Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.

    PubMed

    Razipour, Masoumeh; Alavinejad, Elaheh; Sajedi, Seyede Zahra; Talebi, Saeed; Entezam, Mona; Mohajer, Neda; Kazemi-Sefat, Golnaz-Ensieh; Gharesouran, Jalal; Setoodeh, Aria; Mohaddes Ardebili, Seyyed Mojtaba; Keramatipour, Mohammad

    2017-10-01

    Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the present study were to determine PAH mutations and minihaplotypes in Iranian families with PAH deficiency and to investigate the correlation between them. A total of 81 Iranian families with PAH deficiency were examined using PCR-sequencing of all 13 PAH exons and their flanking intron regions to identify sequence variations. Fragment analysis of the PAH minihaplotypes was performed by capillary electrophoresis for 59 families. In our study, 33 different mutations were found accounting for 95% of the total mutant alleles. The majority of these mutations (72%) were distributed across exons 7, 11, 2 and their flanking intronic regions. Mutation c.1066-11G > A was the most common with a frequency of 20.37%. The less frequent mutations, p.Arg261Gln (8%), p.Arg243Ter (7.4%), p.Leu48Ser (7.4%), p.Lys363Asnfs*37 (6.79%), c.969 + 5G > A (6.17%), p.Pro281Leu (5.56), c.168 + 5G > C (5.56), and p.Arg261Ter (4.94) together comprised about 52% of all mutant alleles. In this study, a total of seventeen PAH gene minihaplotypes were detected, six of which associated exclusively with particular mutations. Our findings indicate a broad PAH mutation spectrum in the Iranian population, which is consistent with previous studies reporting a wide range of PAH mutations, most likely due to ethnic heterogeneity. High prevalence of c.1066-11G > A mutation linked to minihaplotype 7/250 among both Iranian and Mediterranean populations is indicative of historical and geographical links between them. Also, strong association between particular mutations and minihaplotypes could be useful for prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) in affected families.

  15. Descriptive and hedonic analyses of low-Phe food formulations containing corn (Zea mays) seedling roots: toward development of a dietary supplement for individuals with phenylketonuria.

    PubMed

    Cliff, Margaret A; Law, Jessica R; Lücker, Joost; Scaman, Christine H; Kermode, Allison R

    2016-01-15

    Seedling roots of anthocyanin-rich corn (Zea mays) cultivars contain high levels of phenylalanine ammonia lyase (PAL) activity. The development of a natural dietary supplement containing corn roots could provide the means to improve the restrictive diet of phenylketonuria (PKU) patients by increasing their tolerance to dietary phenylalanine (Phe). Therefore this research was undertaken to explore the sensory characteristics of roots of four corn cultivars as well as to develop and evaluate food products (cereal bar, beverage, jam-like spread) to which roots had been added. Sensory profiles of corn roots were investigated using ten trained judges. Roots of Japanese Striped corn seedlings were more bitter, pungent and astringent than those of white and yellow cultivars, while roots from the Blue Jade cultivar had a more pronounced earthy/mushroom aroma. Consumer research using 24 untrained panelists provided hedonic (degree-of-liking) assessments for products with and without roots (controls). The former had lower mean scores than the controls; however, the cereal bar had scores above 5 on the nine-point scale for all hedonic assessments compared with the other treated products. By evaluating low-Phe food products containing corn roots, this research ascertained that the root-containing low-Phe cereal bar was an acceptable 'natural' dietary supplement for PKU-affected individuals. © 2015 Her Majesty the Queen in Right of Canada. Journal of the Science of Food and Agriculture © 2015 Society of Chemical Industry.

  16. Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).

    PubMed

    Hasanzadeh, Mohammad; Zargami, Amir; Baghban, Hossein Navay; Mokhtarzadeh, Ahad; Shadjou, Nasrin; Mahboob, Soltanali

    2018-05-16

    The genetic disorder phenylketonuria (PKU) is the inability to metabolize phenylalanine because of a lack of the enzyme phenylalanine hydroxylase. Phenylalanine is used to biochemically form proteins, coded for by DNA. The development of an apta-assay for detection of l-Phenylalanine is presented in this work. A highly specific DNA-aptamer, selected to l-Phenylalanine was immobilized onto a gold nanostructure and electrochemical measurements were performed in a solution containing the phosphate buffer solution with physiological pH. We have constructed an aptamer immobilized gold nanostructure mediated, ultrasensitive electrochemical biosensor (Apt/AuNSs/Au electrode) for l-Phenylalanine detection without any additional signal amplification strategy. The aptamer assemble onto the AuNSs makes Apt/AuNSs/Au electrode an excellent platform for the l-Phenylalanine detection in physiological like condition. Differential pulse voltammetry were used for the quantitative l-Phenylalanine detection. The Apt/AuNSs/Au electrode offers an ultrasensitive and selective detection of l-Phenylalanine down to 0.23 μM level with a wide dynamic range from 0.72 μM-6 mM. The aptasensor exhibited excellent selectivity and stability. The real sample analysis was performed by spiking the unprocessed human serum samples with various concentration of l-Phenylalanine and obtained recovery within 2% error value. The sensor is found to be more sensitive than most of the literature reports. The simple and easy way of construction of this apta-assay provides an efficient and promising diagnosis of phenylketonuria. Copyright © 2018. Published by Elsevier B.V.

  17. [Model project for updating neonatal screening in Bavaria: concept and initial results].

    PubMed

    Liebl, B; Fingerhut, R; Röschinger, W; Muntau, A; Knerr, I; Olgemöller, B; Zapf, A; Roscher, A A

    2000-04-01

    The newborn screening programme in Bavaria was confronted with several problems. Number of disorders and process quality no longer complied with screening guidelines. Mixed financing, distributed between the state (PKU, galactosaemia) and health insurances (hypothyroidism) had promoted an increasing dissipation of the system. Notified participation rates had dropped to < 80%. Increasing need for a second screening due to early discharge was an additional challenge. To overcome these problems, and considering the availability of improved screening methodology (tandem mass spectrometry) the programme was reorganised. The project, which started on Jan 1, 1999, is based on a cooperation model between laboratory (logistics, analysis), universities (treatment, scientific evaluation), and public health services (coordination, tracking). Time of blood sampling was predated to the third day of life. Screening was extended to biotinidase deficiency, congenital adrenal hyperplasia (CAH) and by introduction of tandem mass spectrometry for screening of many other disorders (besides PKU). Insurances now finance complete laboratory analysis which was transferred to the private sector. To enable all newborn to participate, the names of screened children are matched against birth lists by public health services on a regional basis. Recalls and conspicuous results are consistently followed up until disorders are either excluded or confirmed. Two clinical hotlines were established in the children's hospitals of the universities in Munich (Southern Bavaria) and in Erlangen (Northern Bavaria). Written consent is required for participation in the programme. Participation in the new programme could be continually increased; coverage is > 95% since April. In several cases screening was made up for not tested children by contacting their parents. Omitted screening was mostly due to misunderstandings regarding testing responsibility or lost samples. Altogether 52 cases of disorder were found in the 87,000 newborn screened until August 1999. Hence, the detection rate of children affected by inborn errors of metabolism was about twice as high than before changes. Among the newly screened diseases CAH was detected most often (11 cases). In 22 cases diagnosis was based on the use of tandem mass spectrometry. Among these (besides PKU, 9 cases) MCAD deficiency (6 cases) was detected most frequently. Whereas recall rates of most disorders were < 0.1%, screening for CAH still revealed a high recall rate, particularly in premature births. Second screening due to early discharge (< 48 h) was required in 1.3%. About 20% of pending recalls required contacting birth hospitals, doctors, midwives or parents. So far all affected children could be brought to treatment in time.

  18. Beyond Hydrophobicity: Aqueous Interfaces, Interactions, and Reactions

    NASA Astrophysics Data System (ADS)

    Perkins, Russell James

    Many important chemical reactions from all branches of chemistry occur with water as a solvent. Furthermore, in environmental chemistry, biochemistry, and synthetic chemistry, key reactions occur in heterogeneous aqueous systems, where interfacial effects are particularly important. Despite the importance of aqueous environments and the tremendous amount of work done to study them, there are aspects that require further explanation and remain controversial. I have performed experimental studies to help elucidate the fundamental characteristics of aqueous systems, while examining specific phenomena across several fields. The genetic disorder phenylketonuria (PKU) can result in increased levels of the aromatic amino acid phenylalanine in human serum. Much of my work has focused on the driving forces behind partitioning of aromatic small molecules, including phenylalanine, into air-water or membrane-water interfacial regions, and the consequences of partitioning on interfacial properties. Drastically different behaviors for structurally similar aromatic molecules are observed, differences that cannot be explained by hydrophobic effects. These observations can be explained, however, through the development of a more detailed picture of interactions and partitioning, including the formation of interfacial aggregates. For phenylalanine, this partitioning appears to result in drastic changes in membrane morphology and permeability. This is a likely molecular-level cause for the damage associated with the disease state of PKU. Aqueous systems are further complicated by the reactivity of water. It often serves not only the role of a solvent, but also a reactant, a product, and/or a catalyst. I explore this reactivity using an organic molecule with relevance to environmental chemistry, zymonic acid. Zymonic acid forms spontaneously from pyruvic acid, an important atmospheric species. While zymonic acid exists as a single species in solid form when dissolved in DMSO, once in aqueous solution it quickly reacts with water and equilibrates with at least four other forms. I studied the details and kinetics of these equilibria via time-dependent NMR. Several surprising mechanistic details were uncovered, including a direct enol to geminal diol conversion and base-catalyzed lactone ring formation. The consequences of zymonic acid's behavior are investigated in the context of environmental and prebiotic chemistry.

  19. Nuclear Data Online Services at Peking University

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Fan, T.S.; Guo, Z.Y.; Ye, W.G.

    2005-05-24

    The Institute of Heavy Ion Physics at Peking University has developed a new nuclear data online services software package. Through the web site (http://ndos.nst.pku.edu.cn), it offers online access to main relational nuclear databases: five evaluated neutron libraries (BROND, CENDL, ENDF, JEF, JENDL), the ENSDF library, the EXFOR library, the IAEA photonuclear library and the charged particle data of the FENDL library. This software allows the comparison and graphic representations of the different data sets. The computer programs of this package are based on the Linux implementation of PHP and the MySQL software.

  20. Nuclear Data Online Services at Peking University

    NASA Astrophysics Data System (ADS)

    Fan, T. S.; Guo, Z. Y.; Ye, W. G.; Liu, W. L.; Liu, T. J.; Liu, C. X.; Chen, J. X.; Tang, G. Y.; Shi, Z. M.; Huang, X. L.; Chen, J. E.

    2005-05-01

    The Institute of Heavy Ion Physics at Peking University has developed a new nuclear data online services software package. Through the web site (http://ndos.nst.pku.edu.cn), it offers online access to main relational nuclear databases: five evaluated neutron libraries (BROND, CENDL, ENDF, JEF, JENDL), the ENSDF library, the EXFOR library, the IAEA photonuclear library and the charged particle data of the FENDL library. This software allows the comparison and graphic representations of the different data sets. The computer programs of this package are based on the Linux implementation of PHP and the MySQL software.

  1. PlantTFDB 3.0: a portal for the functional and evolutionary study of plant transcription factors

    PubMed Central

    Jin, Jinpu; Zhang, He; Kong, Lei; Gao, Ge; Luo, Jingchu

    2014-01-01

    With the aim to provide a resource for functional and evolutionary study of plant transcription factors (TFs), we updated the plant TF database PlantTFDB to version 3.0 (http://planttfdb.cbi.pku.edu.cn). After refining the TF classification pipeline, we systematically identified 129 288 TFs from 83 species, of which 67 species have genome sequences, covering main lineages of green plants. Besides the abundant annotation provided in the previous version, we generated more annotations for identified TFs, including expression, regulation, interaction, conserved elements, phenotype information, expert-curated descriptions derived from UniProt, TAIR and NCBI GeneRIF, as well as references to provide clues for functional studies of TFs. To help identify evolutionary relationship among identified TFs, we assigned 69 450 TFs into 3924 orthologous groups, and constructed 9217 phylogenetic trees for TFs within the same families or same orthologous groups, respectively. In addition, we set up a TF prediction server in this version for users to identify TFs from their own sequences. PMID:24174544

  2. Phenylketonuria: dietary and therapeutic challenges.

    PubMed

    Giovannini, M; Verduci, E; Salvatici, E; Fiori, L; Riva, E

    2007-04-01

    PKU subjects need special attention in the definition of optimal supplementation of nutrients, which may be insufficient in relation to the type of diet and may otherwise manifest symptoms of deficit. In particular, it is necessary to pay great attention to the long-chain polyunsaturated fatty acid (LC-PUFA) levels in relation to correct development of the central nervous system. On the basis of numerous beneficial effects currently known, a permanent supplementation with LC-PUFAs, in particular with docosahexaenoic acid, should be considered. Moreover, new formulas, Phe-free peptides, and 'modulated' amino acid preparations might help in preventing nutritional deficiencies and imbalances, with the ultimate aim of improving growth. New strategies--such as supply of tetrahydrobiopterin--need to be optimized in terms of targets, patients and expected outcomes.

  3. VizieR Online Data Catalog: LAMOST candidate members of star clusters (Xiang+, 2015)

    NASA Astrophysics Data System (ADS)

    Xiang, M. S.; Liu, X. W.; Yuan, H. B.; Huang, Y.; Huo, Z. Y.; Zhang, H. W.; Chen, B. Q.; Zhang, H. H.; Sun, N. C.; Wang, C.; Zhao, Y. H.; Shi, J. R.; Luo, A. L.; Li, G. P.; Wu, Y.; Bai, Z. R.; Zhang, Y.; Hou, Y. H.; Yuan, H. L.; Li, G. W.; Wei, Z.

    2015-08-01

    In this work, we describe the algorithms and implementation of LSP3, the LAMOST Stellar Parameter Pipeline at Peking University, a pipeline developed to determine the stellar parameters (radial velocity Vr, effective temperature Teff, surface gravity logg and metallicity [Fe/H]) from LAMOST spectra based on a template-matching technique. Following the data policy of LAMOST surveys, the data as well as the LSP3 pipeline will be public released as value-added products of the first data release of LAMOST (LAMOST DR1; Bai et al., 2015, A&A submitted), currently scheduled in 2014 December and can be accessed via http://lamost973.pku.edu.cn/site/node/4, along with a description file. (1 data file).

  4. PREFACE: 15th International Workshop on Advanced Computing and Analysis Techniques in Physics Research (ACAT2013)

    NASA Astrophysics Data System (ADS)

    Wang, Jianxiong

    2014-06-01

    This volume of Journal of Physics: Conference Series is dedicated to scientific contributions presented at the 15th International Workshop on Advanced Computing and Analysis Techniques in Physics Research (ACAT 2013) which took place on 16-21 May 2013 at the Institute of High Energy Physics, Chinese Academy of Sciences, Beijing, China. The workshop series brings together computer science researchers and practitioners, and researchers from particle physics and related fields to explore and confront the boundaries of computing and of automatic data analysis and theoretical calculation techniques. This year's edition of the workshop brought together over 120 participants from all over the world. 18 invited speakers presented key topics on the universe in computer, Computing in Earth Sciences, multivariate data analysis, automated computation in Quantum Field Theory as well as computing and data analysis challenges in many fields. Over 70 other talks and posters presented state-of-the-art developments in the areas of the workshop's three tracks: Computing Technologies, Data Analysis Algorithms and Tools, and Computational Techniques in Theoretical Physics. The round table discussions on open-source, knowledge sharing and scientific collaboration stimulate us to think over the issue in the respective areas. ACAT 2013 was generously sponsored by the Chinese Academy of Sciences (CAS), National Natural Science Foundation of China (NFSC), Brookhaven National Laboratory in the USA (BNL), Peking University (PKU), Theoretical Physics Cernter for Science facilities of CAS (TPCSF-CAS) and Sugon. We would like to thank all the participants for their scientific contributions and for the en- thusiastic participation in all its activities of the workshop. Further information on ACAT 2013 can be found at http://acat2013.ihep.ac.cn. Professor Jianxiong Wang Institute of High Energy Physics Chinese Academy of Science Details of committees and sponsors are available in the PDF

  5. Arabidopsis Hormone Database: a comprehensive genetic and phenotypic information database for plant hormone research in Arabidopsis

    PubMed Central

    Peng, Zhi-yu; Zhou, Xin; Li, Linchuan; Yu, Xiangchun; Li, Hongjiang; Jiang, Zhiqiang; Cao, Guangyu; Bai, Mingyi; Wang, Xingchun; Jiang, Caifu; Lu, Haibin; Hou, Xianhui; Qu, Lijia; Wang, Zhiyong; Zuo, Jianru; Fu, Xiangdong; Su, Zhen; Li, Songgang; Guo, Hongwei

    2009-01-01

    Plant hormones are small organic molecules that influence almost every aspect of plant growth and development. Genetic and molecular studies have revealed a large number of genes that are involved in responses to numerous plant hormones, including auxin, gibberellin, cytokinin, abscisic acid, ethylene, jasmonic acid, salicylic acid, and brassinosteroid. Here, we develop an Arabidopsis hormone database, which aims to provide a systematic and comprehensive view of genes participating in plant hormonal regulation, as well as morphological phenotypes controlled by plant hormones. Based on data from mutant studies, transgenic analysis and gene ontology (GO) annotation, we have identified a total of 1026 genes in the Arabidopsis genome that participate in plant hormone functions. Meanwhile, a phenotype ontology is developed to precisely describe myriad hormone-regulated morphological processes with standardized vocabularies. A web interface (http://ahd.cbi.pku.edu.cn) would allow users to quickly get access to information about these hormone-related genes, including sequences, functional category, mutant information, phenotypic description, microarray data and linked publications. Several applications of this database in studying plant hormonal regulation and hormone cross-talk will be presented and discussed. PMID:19015126

  6. Arabidopsis Hormone Database: a comprehensive genetic and phenotypic information database for plant hormone research in Arabidopsis.

    PubMed

    Peng, Zhi-yu; Zhou, Xin; Li, Linchuan; Yu, Xiangchun; Li, Hongjiang; Jiang, Zhiqiang; Cao, Guangyu; Bai, Mingyi; Wang, Xingchun; Jiang, Caifu; Lu, Haibin; Hou, Xianhui; Qu, Lijia; Wang, Zhiyong; Zuo, Jianru; Fu, Xiangdong; Su, Zhen; Li, Songgang; Guo, Hongwei

    2009-01-01

    Plant hormones are small organic molecules that influence almost every aspect of plant growth and development. Genetic and molecular studies have revealed a large number of genes that are involved in responses to numerous plant hormones, including auxin, gibberellin, cytokinin, abscisic acid, ethylene, jasmonic acid, salicylic acid, and brassinosteroid. Here, we develop an Arabidopsis hormone database, which aims to provide a systematic and comprehensive view of genes participating in plant hormonal regulation, as well as morphological phenotypes controlled by plant hormones. Based on data from mutant studies, transgenic analysis and gene ontology (GO) annotation, we have identified a total of 1026 genes in the Arabidopsis genome that participate in plant hormone functions. Meanwhile, a phenotype ontology is developed to precisely describe myriad hormone-regulated morphological processes with standardized vocabularies. A web interface (http://ahd.cbi.pku.edu.cn) would allow users to quickly get access to information about these hormone-related genes, including sequences, functional category, mutant information, phenotypic description, microarray data and linked publications. Several applications of this database in studying plant hormonal regulation and hormone cross-talk will be presented and discussed.

  7. PlantTFDB: a comprehensive plant transcription factor database

    PubMed Central

    Guo, An-Yuan; Chen, Xin; Gao, Ge; Zhang, He; Zhu, Qi-Hui; Liu, Xiao-Chuan; Zhong, Ying-Fu; Gu, Xiaocheng; He, Kun; Luo, Jingchu

    2008-01-01

    Transcription factors (TFs) play key roles in controlling gene expression. Systematic identification and annotation of TFs, followed by construction of TF databases may serve as useful resources for studying the function and evolution of transcription factors. We developed a comprehensive plant transcription factor database PlantTFDB (http://planttfdb.cbi.pku.edu.cn), which contains 26 402 TFs predicted from 22 species, including five model organisms with available whole genome sequence and 17 plants with available EST sequences. To provide comprehensive information for those putative TFs, we made extensive annotation at both family and gene levels. A brief introduction and key references were presented for each family. Functional domain information and cross-references to various well-known public databases were available for each identified TF. In addition, we predicted putative orthologs of those TFs among the 22 species. PlantTFDB has a simple interface to allow users to search the database by IDs or free texts, to make sequence similarity search against TFs of all or individual species, and to download TF sequences for local analysis. PMID:17933783

  8. Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience.

    PubMed

    Pichler, Karin; Michel, Miriam; Zlamy, Manuela; Scholl-Buergi, Sabine; Ralser, Elisabeth; Jörg-Streller, Monika; Karall, Daniela

    2017-04-01

    Published data on breast milk feeding in infants suffering from inherited metabolic disorders (IMDs) other than phenylketonuria (PKU) are limited and described outcome is variable. We aimed to evaluate retrospectively whether breastfeeding and/or breast milk feeding are feasible in infants with IMDs including organic acidemias, fatty acid oxidation disorders, urea cycle disorders, aminoacidopathies or disorders of galactose metabolism. Data on breastfeeding and breast milk feeding as well as monitoring and neurological outcome were collected retrospectively from our database of patients with the mentioned IMD, who were followed in our metabolic center within the last 10 years. Twenty patients were included in the study, who were either breast fed on demand or received expressed breast milk. All the infants were evaluated clinically and biochemically at 2-4-week intervals, with weight gain as the leading parameter to determine metabolic control. Good metabolic control and adequate neurological development were achieved in all patients but one, who experienced the only metabolic crisis observed within the study period. Breast milk feeding with close clinical and biochemical monitoring is feasible in most IMD and should be considered as it offers nutritional and immunological benefits.

  9. Genetic epidemiology of single gene defects in Chile.

    PubMed Central

    Cruz-Coke, R; Moreno, R S

    1994-01-01

    We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile. At present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture. Fewer than 4% of the Chilean population are foreign born. Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range of the white population. Classical ethnic diseases are very rare. Autosomal recessive disorders have a wide range of variability: cystic fibrosis has a low incidence and PKU has a similar incidence to English rates. Only 30% of the inborn errors of metabolism have been described in Chilean medical publications. In addition, no Chilean haemoglobin or haptoglobin variants have been described. Some rare inherited diseases in Chilean human isolates have been described, including achromatopsia, chondrocalcinosis, and Creutzfeldt-Jakob disease. The prevalence of intrahepatic cholestasis of pregnancy and supernumerary nipples is the highest in the world and they are associated with aboriginal origin. Single gene defects in Chile are probably shaped by factors related to its ethnic population structure. These local rare single gene defects may be good markers of population admixture for genetic epidemiological studies. PMID:7815439

  10. iSeq: Web-Based RNA-seq Data Analysis and Visualization.

    PubMed

    Zhang, Chao; Fan, Caoqi; Gan, Jingbo; Zhu, Ping; Kong, Lei; Li, Cheng

    2018-01-01

    Transcriptome sequencing (RNA-seq) is becoming a standard experimental methodology for genome-wide characterization and quantification of transcripts at single base-pair resolution. However, downstream analysis of massive amount of sequencing data can be prohibitively technical for wet-lab researchers. A functionally integrated and user-friendly platform is required to meet this demand. Here, we present iSeq, an R-based Web server, for RNA-seq data analysis and visualization. iSeq is a streamlined Web-based R application under the Shiny framework, featuring a simple user interface and multiple data analysis modules. Users without programming and statistical skills can analyze their RNA-seq data and construct publication-level graphs through a standardized yet customizable analytical pipeline. iSeq is accessible via Web browsers on any operating system at http://iseq.cbi.pku.edu.cn .

  11. How Darwinian reductionism refutes genetic determinism.

    PubMed

    Rosoff, Philip M; Rosenberg, Alex

    2006-03-01

    Genetic determinism labels the morally problematical claim that some socially significant traits, traits we care about, such as sexual orientation, gender roles, violence, alcoholism, mental illness, intelligence, are largely the results of the operation of genes and not much alterable by environment, learning or other human intervention. Genetic determinism does not require that genes literally fix these socially significant traits, but rather that they constrain them within narrow channels beyond human intervention. In this essay we analyze genetic determinism in light of what is now known about the inborn error of metabolism phenylketonuria (PKU), which has for so long been the poster child 'simple' argument in favor of some form of genetic determinism. We demonstrate that this case proves the exact opposite of what it has been proposed to support and provides a strong refutation of genetic determinism in all its guises.

  12. Utilization of a hospital information system for outpatient prescription screening process at the PKU Muhammadiyah Yogyakarta Hospital

    NASA Astrophysics Data System (ADS)

    Ismail, R.; Perwitasari, D. A.; Supadmi, W.; Risdiana, I.

    2017-11-01

    Prescription screening includes administrative and clinical precision of the drug, dosage, frequency and route of administration, therapeutic duplication, allergic or sensitive reactions, and actual or potential interactions. The study was aimed to identify the obstacles and compliance level of users, as well as the design of a prescription screening information system and its users’ perceptions. This study used qualitative and quantitative research design with action research studies involving pharmacists, pharmacy technicians, a programmer and clinical practice student pharmacists. The obstacle of pharmacists in doing prescription screening was the long duration in the process of manual prescription review. The compliance of pharmacists in manual prescription review was under 50%. The prescription information system was created by the programmer on the proposal of pharmacists in the form of front view, pharmacy display, sales display, prescription display, prescription display per period and display of recapped prescriptions. Perception of the usefulness was very high with a value of 4.5±0.577 and perception of ease of use was very high with a value of 4.214±0.534 from 28 respondents. The prescription information system was created by a programmer upon the recommendations of pharmacists. Perception of the usefulness and ease of use was very high.

  13. Image retrieval by information fusion based on scalable vocabulary tree and robust Hausdorff distance

    NASA Astrophysics Data System (ADS)

    Che, Chang; Yu, Xiaoyang; Sun, Xiaoming; Yu, Boyang

    2017-12-01

    In recent years, Scalable Vocabulary Tree (SVT) has been shown to be effective in image retrieval. However, for general images where the foreground is the object to be recognized while the background is cluttered, the performance of the current SVT framework is restricted. In this paper, a new image retrieval framework that incorporates a robust distance metric and information fusion is proposed, which improves the retrieval performance relative to the baseline SVT approach. First, the visual words that represent the background are diminished by using a robust Hausdorff distance between different images. Second, image matching results based on three image signature representations are fused, which enhances the retrieval precision. We conducted intensive experiments on small-scale to large-scale image datasets: Corel-9, Corel-48, and PKU-198, where the proposed Hausdorff metric and information fusion outperforms the state-of-the-art methods by about 13, 15, and 15%, respectively.

  14. Plasma studies of the permanent magnet electron cyclotron resonance ion source at Peking University.

    PubMed

    Ren, H T; Peng, S X; Xu, Y; Zhao, J; Lu, P N; Chen, J; Zhang, A L; Zhang, T; Guo, Z Y; Chen, J E

    2014-02-01

    At Peking University (PKU) we have developed several 2.45 GHz Permanent Magnet Electron Cyclotron Resonance ion sources for PKUNIFTY, SFRFQ, Coupled RFQ&SFRFQ, and Dielectric-Wall Accelerator (DWA) projects (respectively, 50 mA of D(+), 10 mA of O(+), 10 mA of He(+), and 50 mA of H(+)). In order to improve performance of these ion sources, it is necessary to better understand the principal factors that influence the plasma density and the atomic ion fraction. Theoretical analysis about microwave transmission and cut-off inside the discharge chamber were carried out to study the influence of the discharge chamber diameters. As a consequence, experimental studies on plasma density and ion fraction with different discharge chamber sizes have been carried out. Due to the difficulties in measuring plasma density inside the discharge chamber, the output beam current was measured to reflect the plasma density. Experimental results show that the plasma density increases to the maximum and then decreases significantly as the diameter changed from 64 mm to 30 mm, and the atomic ion fraction has the same tendency. The maximum beam intensity was obtained with the diameter of 35 mm, but the maximum atomic ion fraction with a diameter of 40 mm. The experimental results are basically accordant with the theoretical calculation. Details are presented in this paper.

  15. COMMITTEES: SQM2008-International Conference on Strangeness in Quark Matter SQM2008-International Conference on Strangeness in Quark Matter

    NASA Astrophysics Data System (ADS)

    2008-04-01

    Local Organising Committee Xiangzhou Cai (SINPA) Weiqin Chao (CCAST) Liewen Chen (SJTU) Jianping Cheng (Tsinghua University) Jinghua Fu (CCNU) Yuanning Gao (Tsinghua University) Xiaomei Li (CIAE) Zuotang Liang (Shandong University) Feng Liu (CCNU), Co-chair Yuxin Liu (PKU) Qing Wang (Tsinghua University) Qun Wang (USTC) Hushan Xu (IMP) Daicui Zhou (CCNU) Pengfei Zhuang (Tsinghua University), Co-chair Bingsong Zou (IHEP) International Advisory Committee Jörg Aichelin, Nantes Federico Antinori, Padova Tamás Biró, Budapest Peter Braun-Munzinger, GSI Jean Cleymans, Cape Town László Csernai, Bergen Timothy Hallman, BNL Huan Zhong Huang, UCLA Takeshi Kodama, Rio de Janeiro Carlos Lourenço, CERN Yu-Gang Ma, Shanghai Jes Masden, Aarhus Yasuo Miake, Tsukuba Berndt Müller, Duke Grazyna Odyniec, LBNL Helmut Oeschler, Darmstadt Johann Rafelski, Arizona Hans Georg Ritter, LBNL Karel Šafařík, CERN Jack Sandweiss, Yale George S F Stephans, MIT Horst Stöcker, Frankfurt Thomas Ullrich, BNL Nu Xu, LBNL William A Zajc, Columbia

  16. Recent Astronomical Development in Asia Pacific Rim

    NASA Astrophysics Data System (ADS)

    Leung, K.-C.

    2009-08-01

    For over two decades The Pacific Rim Conference on Stellar Astrophysics series has been held exclusively at the Asian Rim. The primary reason is that the majority of nations in Asia are less developed in Astronomy than many countries on the American Rim. At time same time, many nations in Asia are less able to afford the costs of long distance travel for astronomical conferences. As a result Asia has had a hold on the Pacific Rim Conferences. Over the last few years new research institutes have been coming on board. The ones that have most visibly emerged are; National Astronomical Research Institute of Thailand, NARIT, The Astrophysical Research Center for the Structure and Evolution of the Cosmos, ARCSEC, and Kavli Institute of Astronomy and Astrophysics at Peking University, KIAA-PKU. It is interesting to note the development and structure of each is very different. So far they all appear to be working well. Hopefully they will provide a variety of models for astronomical institutes in developing nations of the region and perhaps beyond.

  17. PepPat, a pattern-based oligopeptide homology search method and the identification of a novel tachykinin-like peptide.

    PubMed

    Jiang, Ying; Gao, Ge; Fang, Gang; Gustafson, Eric L; Laverty, Maureen; Yin, Yanbin; Zhang, Yong; Luo, Jingchu; Greene, Jonathan R; Bayne, Marvin L; Hedrick, Joseph A; Murgolo, Nicholas J

    2003-05-01

    PepPat, a hybrid method that combines pattern matching with similarity scoring, is described. We also report PepPat's application in the identification of a novel tachykinin-like peptide. PepPat takes as input a query peptide and a user-specified regular expression pattern within the peptide. It first performs a database pattern match and then ranks candidates on the basis of their similarity to the query peptide. PepPat calculates similarity over the pattern spanning region, enhancing PepPat's sensitivity for short query peptides. PepPat can also search for a user-specified number of occurrences of a repeated pattern within the target sequence. We illustrate PepPat's application in short peptide ligand mining. As a validation example, we report the identification of a novel tachykinin-like peptide, C14TKL-1, and show it is an NK1 (neuokinin receptor 1) agonist whose message is widely expressed in human periphery. PepPat is offered online at: http://peppat.cbi.pku.edu.cn.

  18. [A new strategy of gene therapy for hyperphenylalaninemia rats].

    PubMed

    Jia, X; Liu, J; Xiang, H

    2000-06-01

    To construct a recombinant vector which expresses active phenylalanine-amonia-lyase (PAL) in Lactococcus lactis (L. L.), and to convert phe into cinnamic acid in small intestine by the engineering L. L. to decrease the phe level in the peripheral blood, and to cure hyperphenylalaninemia rats. PAL cDNA from Petroselinum crispum was subcloned into expression vector pMG36e and transformed L. L. The pMG36ePAL/L.L. was screened and characterized by using PCR and HPLC, and prepared as enteric-coated microcapsules and oral liquid type preparation that were given orally to hyperphenylalaninemia-rats. Engineering L. L. expressing PAL activity was obtained. The phe levels plasma of in the rats receiving preparations made from the engineering L. L. were significantly reduced compared with non-treated hyperphenylalaninemia rats. And the effects of different preparations were different from each other. The engineering L. L. expressing PAL activity can reduce the blood phe level of the hyperphenylalaninemia rats. This may be a potential way for PKU gene therapeutics.

  19. Recent progress of the Laser-driven Ion-beam Trace Probe

    NASA Astrophysics Data System (ADS)

    Yang, Xiaoyi; Xiao, Chijie; Chen, Yihang; Xu, Tianchao; Yu, Yi; Xu, Min; Wang, Long; Lin, Chen; Wang, Xiaogang

    2017-10-01

    The Laser-driven Ion-beam Trace Probe (LITP) is a new method to diagnose the poloidal magnetic field and radial electric field in tokamaks. Recently significant progresses have been made as follows. 1) The experimental system has been set up on the PKU Plasma Test (PPT) linear device and begun to validate the principle of LITP, including the ion source, the ion detector and the poloidal magnetic field cable. Preliminary experimental results matched the theoretical prediction well. 2) The reconstruction principle has been improved including the nonlinear effect. 3) Tomography methods have been applied in the reconstruction codes. Now the laser-driven ion-beam accelerator has been setup on the PPT device, and further test of LITP will start soon. After that a prototype of LITP system will be designed and setup on the HL-2A tokamak device. This work was supported by the CHINA MOST under 2012YQ030142, ITER-CHINA program 2015GB120001 and National Natural Science Foundation of China under 11575014 and 11375053.

  20. Collaboration Expertise in Medicine - No Evidence for Cross-Domain Application from a Memory Retrieval Study

    PubMed Central

    Kiesewetter, Jan; Fischer, Frank; Fischer, Martin R.

    2016-01-01

    Background Is there evidence for expertise on collaboration and, if so, is there evidence for cross-domain application? Recall of stimuli was used to measure so-called internal collaboration scripts of novices and experts in two studies. Internal collaboration scripts refer to an individual’s knowledge about how to interact with others in a social situation. Method—Study 1 Ten collaboration experts and ten novices of the content domain social science were presented with four pictures of people involved in collaborative activities. The recall texts were coded, distinguishing between superficial and collaboration script information. Results—Study 1 Experts recalled significantly more collaboration script information (M = 25.20; SD = 5.88) than did novices (M = 13.80; SD = 4.47). Differences in superficial information were not found. Study 2 Study 2 tested whether the differences found in Study 1 could be replicated. Furthermore, the cross-domain application of internal collaboration scripts was explored. Method—Study 2 Twenty collaboration experts and 20 novices of the content domain medicine were presented with four pictures and four videos of their content domain and a video and picture of another content domain. All stimuli showed collaborative activities typical for the respective content domains. Results—Study 2 As in Study 1, experts recalled significantly more collaboration script information of their content domain (M = 71.65; SD = 33.23) than did novices (M = 54.25; SD = 15.01). For the novices, no differences were found for the superficial information nor for the retrieval of collaboration script information recalled after the other content domain stimuli. Discussion There is evidence for expertise on collaboration in memory tasks. The results show that experts hold substantially more collaboration script information than did novices. Furthermore, the differences between collaboration novices and collaboration experts occurred only in their own content domain, indicating that internal collaboration scripts are not easily stored and retrieved in memory tasks other than in the own content domain. PMID:26866801

  1. AnnoLnc: a web server for systematically annotating novel human lncRNAs.

    PubMed

    Hou, Mei; Tang, Xing; Tian, Feng; Shi, Fangyuan; Liu, Fenglin; Gao, Ge

    2016-11-16

    Long noncoding RNAs (lncRNAs) have been shown to play essential roles in almost every important biological process through multiple mechanisms. Although the repertoire of human lncRNAs has rapidly expanded, their biological function and regulation remain largely elusive, calling for a systematic and integrative annotation tool. Here we present AnnoLnc ( http://annolnc.cbi.pku.edu.cn ), a one-stop portal for systematically annotating novel human lncRNAs. Based on more than 700 data sources and various tool chains, AnnoLnc enables a systematic annotation covering genomic location, secondary structure, expression patterns, transcriptional regulation, miRNA interaction, protein interaction, genetic association and evolution. An intuitive web interface is available for interactive analysis through both desktops and mobile devices, and programmers can further integrate AnnoLnc into their pipeline through standard JSON-based Web Service APIs. To the best of our knowledge, AnnoLnc is the only web server to provide on-the-fly and systematic annotation for newly identified human lncRNAs. Compared with similar tools, the annotation generated by AnnoLnc covers a much wider spectrum with intuitive visualization. Case studies demonstrate the power of AnnoLnc in not only rediscovering known functions of human lncRNAs but also inspiring novel hypotheses.

  2. Genes and (Common) Pathways Underlying Drug Addiction

    PubMed Central

    Li, Chuan-Yun; Mao, Xizeng; Wei, Liping

    2008-01-01

    Drug addiction is a serious worldwide problem with strong genetic and environmental influences. Different technologies have revealed a variety of genes and pathways underlying addiction; however, each individual technology can be biased and incomplete. We integrated 2,343 items of evidence from peer-reviewed publications between 1976 and 2006 linking genes and chromosome regions to addiction by single-gene strategies, microrray, proteomics, or genetic studies. We identified 1,500 human addiction-related genes and developed KARG (http://karg.cbi.pku.edu.cn), the first molecular database for addiction-related genes with extensive annotations and a friendly Web interface. We then performed a meta-analysis of 396 genes that were supported by two or more independent items of evidence to identify 18 molecular pathways that were statistically significantly enriched, covering both upstream signaling events and downstream effects. Five molecular pathways significantly enriched for all four different types of addictive drugs were identified as common pathways which may underlie shared rewarding and addictive actions, including two new ones, GnRH signaling pathway and gap junction. We connected the common pathways into a hypothetical common molecular network for addiction. We observed that fast and slow positive feedback loops were interlinked through CAMKII, which may provide clues to explain some of the irreversible features of addiction. PMID:18179280

  3. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance.

    PubMed

    Agostoni, C; Marangoni, F; Riva, E; Giovannini, M; Galli, C

    1997-03-01

    The study addresses the relationship of plasma arachidonic acid and thromboxane production with the dietary compliance in treated phenylketonuric patients, whose vegan-like dietary pattern makes them a useful model to evaluate the effects of the near-total avoidance of animal fats. Thirteen treated phenylketonuric children were compared with twelve healthy controls for arachidonic acid intake, plasma fatty acids and platelet thromboxane B2 production, assessed as accumulation of this eicosanoid in serum. The calculated intake of arachidonic acid was lower in phenylketonurics than in controls and this was associated with lower levels in plasma lipids. Plasma arachidonic acid concentrations and serum thromboxane B2 levels correlated with the last 12 months phenylalanine levels, taken as negative indicator of dietary compliance. A direct relationship between plasma arachidonic acid concentration and thromboxane B2 production was observed only in phenylketonuric patients (r = 0.74, P = 0.01). While well-compliant PKU subjects have low arachidonic acid and thromboxane concentrations in plasma, the low compliance with animal food avoidance, evoking higher phenylalanine levels, results in elevation of both plasma arachidonic acid and serum thromboxane B2. This gives support to the hypothesis that the consumption of animal fats may affect the production of arachidonic acid-derived platelet eicosanoids.

  4. Collaboration in Distance Education. International Case Studies.

    ERIC Educational Resources Information Center

    Moran, Louise, Ed.; Mugridge, Ian, Ed.

    This book contains nine case studies of collaboration in distance education. The case studies focus on such aspects of collaboration in distance education as the following: roles of individual institutional partners; importance of personal relationships; benefits of collaboration to individual partners; conflicts between collaboration and…

  5. Librarian and Faculty Collaborative Instruction: A Phenomenological Self-Study

    ERIC Educational Resources Information Center

    Brown, Jennifer Diane; Duke, Thomas Scott

    2005-01-01

    Several models of librarian and faculty collaboration are found in the professional librarian literature. The literature on collaborative self-study research in university settings suggests collaborative self-study research can improve interdisciplinary and collaborative approaches to teaching and research and facilitate the transfer of knowledge.…

  6. The common characteristics and outcomes of multidisciplinary collaboration in primary health care: a systematic literature review

    PubMed Central

    Schepman, Sanneke; Hansen, Johan; de Putter, Iris D.; Batenburg, Ronald S.; de Bakker, Dinny H.

    2015-01-01

    Introduction Research on collaboration in primary care focuses on specific diseases or types of collaboration. We investigate the effects of such collaboration by bringing together the results of scientific studies. Theory and methods We conducted a systematic literature review of PubMed, CINAHL, Cochrane and EMBASE. The review was restricted to publications that test outcomes of multidisciplinary collaboration in primary care in high-income countries. A conceptual model is used to structure the analysis. Results Fifty-one studies comply with the selection criteria about collaboration in primary care. Approximately half of the 139 outcomes in these studies is non-significant. Studies among older patients, in particular, report non-significant outcomes (p < .05). By contrast, a higher proportion of significant results were found in studies that report on clinical outcomes. Conclusions and discussion This review shows a large diversity in the types of collaboration in primary care; and also thus a large proportion of outcomes do not seem to be positively affected by collaboration. Both the characteristics of the structure of the collaboration and the collaboration processes themselves affect the outcomes. More research is necessary to understand the mechanism behind the success of collaboration, especially on the exact nature of collaboration and the context in which collaboration takes place. PMID:26150765

  7. Study of the Impact of Collaboration among Teachers in a Collaborative Authoring System

    ERIC Educational Resources Information Center

    Lafifi, Yacine; Touil, Ghassen

    2010-01-01

    Several researchers have studied the impact of collaboration between the learners on their cognitive levels, but few studies have been carried out on the impact of collaboration between the teachers. The aim of our research is to study the effects on the knowledge levels of learners of collaborative construction of learning objects created by the…

  8. Production of False Memories in Collaborative Memory Tasks Using the DRM Paradigm

    ERIC Educational Resources Information Center

    Saraiva, Magda; Albuquerque, Pedro B.; Arantes, Joana

    2017-01-01

    Studies on collaborative memory have revealed an interesting phenomenon called collaborative inhibition (CI) (i.e., nominal groups recall more information than collaborative groups). However, the results of studies on false memories in collaborative memory tasks are controversial. This study aimed to understand the production of false memories in…

  9. Perception of collaborative learning in associate degree students in Hong Kong.

    PubMed

    Shek, Daniel T L; Shek, Moses M W

    2013-01-01

    Although collaborative learning has been widely researched in Western contexts, no study has been carried out to understand how associate degree students look at collaborative learning in Hong Kong. In this study, perceptions of and attitudes to collaborative learning among associate degree students were studied. A total of 44 associate degree students completed an online questionnaire including measures of perceived benefits and attitudes to collaborative learning, and social-emotional competence. Results showed that there were no significant differences between male and female students on perceived benefits of and attitudes towards collaborative learning. Social-emotional competence was related to perceived benefits of and attitudes to collaborative learning. Attitudes were also related to perceived benefits of collaborative learning. This paper is the first known study looking at the relationships among perceived benefits and attitudes to collaborative learning and social-emotional competence in Chinese associate degree students in different Chinese contexts.

  10. Collaboration Expertise in Medicine - No Evidence for Cross-Domain Application from a Memory Retrieval Study.

    PubMed

    Kiesewetter, Jan; Fischer, Frank; Fischer, Martin R

    2016-01-01

    Is there evidence for expertise on collaboration and, if so, is there evidence for cross-domain application? Recall of stimuli was used to measure so-called internal collaboration scripts of novices and experts in two studies. Internal collaboration scripts refer to an individual's knowledge about how to interact with others in a social situation. METHOD— Ten collaboration experts and ten novices of the content domain social science were presented with four pictures of people involved in collaborative activities. The recall texts were coded, distinguishing between superficial and collaboration script information. RESULTS— Experts recalled significantly more collaboration script information (M = 25.20; SD = 5.88) than did novices (M = 13.80; SD = 4.47). Differences in superficial information were not found. Study 2 tested whether the differences found in Study 1 could be replicated. Furthermore, the cross-domain application of internal collaboration scripts was explored. METHOD— Twenty collaboration experts and 20 novices of the content domain medicine were presented with four pictures and four videos of their content domain and a video and picture of another content domain. All stimuli showed collaborative activities typical for the respective content domains. RESULTS— As in Study 1, experts recalled significantly more collaboration script information of their content domain (M = 71.65; SD = 33.23) than did novices (M = 54.25; SD = 15.01). For the novices, no differences were found for the superficial information nor for the retrieval of collaboration script information recalled after the other content domain stimuli. There is evidence for expertise on collaboration in memory tasks. The results show that experts hold substantially more collaboration script information than did novices. Furthermore, the differences between collaboration novices and collaboration experts occurred only in their own content domain, indicating that internal collaboration scripts are not easily stored and retrieved in memory tasks other than in the own content domain.

  11. Exploring How Collaborative Dialogues Facilitate Synchronous Collaborative Writing

    ERIC Educational Resources Information Center

    Yeh, Hui-Chin

    2014-01-01

    Collaborative writing (CW) research has gained prevalence in recent years. However, the ways in which students interact socially to produce written texts through synchronous collaborative writing (SCW) is rarely studied. This study aims to investigate the effects of SCW on students' writing products and how collaborative dialogues facilitate SCW.…

  12. A Grounded Theory of Collaborative Synchronizing in Relation to Challenging Students

    ERIC Educational Resources Information Center

    Thornberg, Robert

    2012-01-01

    The aim of this study was to investigate multiprofessional collaboration as well as collaboration between professionals and challenging students and their parents in which the focus for these collaborations was on handling the challenging students' academic and social behavior. A grounded theory study of collaboration between a prereferral…

  13. Application of a Novel Collaboration Engineering Method for Learning Design: A Case Study

    ERIC Educational Resources Information Center

    Cheng, Xusen; Li, Yuanyuan; Sun, Jianshan; Huang, Jianqing

    2016-01-01

    Collaborative case studies and computer-supported collaborative learning (CSCL) play an important role in the modern education environment. A number of researchers have given significant attention to learning design in order to improve the satisfaction of collaborative learning. Although collaboration engineering (CE) is a mature method widely…

  14. Collaborative remembering revisited: Study context access modulates collaborative inhibition and later benefits for individual memory.

    PubMed

    Abel, Magdalena; Bäuml, Karl-Heinz T

    2017-11-01

    Collaborating groups typically show reduced recall relative to nominal groups, i.e., to the cumulated non-redundant recall of the same number of people remembering in isolation-a finding termed collaborative inhibition. Motivated by the results of several previous studies, this study examined in two experiments whether access to study context at test influences the effects of collaboration. In both experiments, subjects collaborated in triads or recalled previously studied material in isolation. Experiment 1 applied short versus prolonged retention intervals to vary access to study context at test, whereas Experiment 2 used the list-method directed forgetting task and applied remember versus forget instructions to modulate context access. In both experiments, collaborative inhibition was present when access to study context at test was intact (i.e., after the short delay and the remember instruction) but was eliminated when the access was impaired (i.e., after the prolonged delay and the forget instruction). Also, post-collaborative gains for individual recall were greater when context access was impaired and collaborative inhibition was eliminated. The findings demonstrate a critical role of access to study context at test for collaborative inhibition, indicating that impaired context access may reflect a general boundary condition for the recall impairment. The possible role of context reactivation processes for beneficial effects of social recall is discussed.

  15. When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.

    PubMed

    Schwade, Jan-Niclas; Endmann, Matthias; Hofmann, Thomas; Rust, Stephan; Sass, Jörn Oliver; Rutsch, Frank

    2017-10-26

    A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization. Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) enzyme activity was low in patient's fibroblasts. Mutation analysis of the corresponding OXCT1 gene revealed that the patient was a homozygous carrier of the mutation c.1523T>C (p.V508A). We conclude that SCOT deficiency should be considered in the differential diagnosis in patients with recurrent metabolic acidotic episodes, even if they are already known to have a metabolic disease unrelated to this.

  16. Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

    PubMed

    Vela-Amieva, M; Abreu-González, M; González-del Angel, A; Ibarra-González, I; Fernández-Lainez, C; Barrientos-Ríos, R; Monroy-Santoyo, S; Guillén-López, S; Alcántara-Ortigoza, M A

    2015-07-01

    The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions of responsiveness to tetrahydrobiopterin (BH4 ) have never been performed. We sequenced the PAH gene and determined the geographic origin of each allele, mini-haplotype associated, genotype-phenotype correlations and genotype-based prediction of BH4 responsiveness in 48 Mexican patients. The mutational spectrum included 34 variants with c.60+5G>T being the most frequent (20.8%) and linked to haplotype 4.3 possibly because of a founder effect and/or genetic drift. Two new variants were found c.1A>T and c.969+6T>C. The genotype-phenotype correlation was concordant in 70.8%. The genotype-based prediction to BH4 -responsiveness was 41.7%, this information could be useful for the rational selection of candidates for BH4 testing and therapy. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Reduction of L-phenylalanine in protein hydrolysates using L-phenylalanine ammonia-lyase from Rhodosporidium toruloides.

    PubMed

    Castañeda, María Teresita; Adachi, Osao; Hours, Roque Alberto

    2015-10-01

    L-Phenylalanine ammonia-lyase (PAL, EC 4.3.1.25) from Rhodosporidium toruloides was utilized to remove L-phenylalanine (L-Phe) from different commercial protein hydrolysates. A casein acid hydrolysate (CAH, L-Phe ~2.28 %) was employed as a model substrate. t-Cinnamic acid resulting from deamination of L-Phe was extracted, analyzed at λ = 290 nm, and used for PAL activity determination. Optimum reaction conditions, optimized using successive Doehlert design, were 35 mg mL(-1) of CAH and 800 mU mL(-1) of PAL, while temperature and pH were 42 °C and 8.7, respectively. Reaction kinetics of PAL with CAH was determined under optimized conditions. Then, removal of L-Phe from CAH was tested. Results showed that more than 92 % of initial L-Phe was eliminated. Similar results were obtained with other protein hydrolysates. These findings demonstrate that PAL is a useful biocatalyst for L-Phe removal from protein hydrolysates, which can be evaluated as potential ingredients in foodstuffs for PKU patients.

  18. Towards a measurement of internalization of collaboration scripts in the medical context - results of a pilot study.

    PubMed

    Kiesewetter, Jan; Gluza, Martin; Holzer, Matthias; Saravo, Barbara; Hammitzsch, Laura; Fischer, Martin R

    2015-01-01

    Collaboration as a key qualification in medical education and everyday routine in clinical care can substantially contribute to improving patient safety. Internal collaboration scripts are conceptualized as organized - yet adaptive - knowledge that can be used in specific situations in professional everyday life. This study examines the level of internalization of collaboration scripts in medicine. Internalization is understood as fast retrieval of script information. The goals of the current study were the assessment of collaborative information, which is part of collaboration scripts, and the development of a methodology for measuring the level of internalization of collaboration scripts in medicine. For the contrastive comparison of internal collaboration scripts, 20 collaborative novices (medical students in their final year) and 20 collaborative experts (physicians with specialist degrees in internal medicine or anesthesiology) were included in the study. Eight typical medical collaborative situations as shown on a photo or video were presented to the participants for five seconds each. Afterwards, the participants were asked to describe what they saw on the photo or video. Based on the answers, the amount of information belonging to a collaboration script (script-information) was determined and the time each participant needed for answering was measured. In order to measure the level of internalization, script-information per recall time was calculated. As expected, collaborative experts stated significantly more script-information than collaborative novices. As well, collaborative experts showed a significantly higher level of internalization. Based on the findings of this research, we conclude that our instrument can discriminate between collaboration novices and experts. It therefore can be used to analyze measures to foster subject-specific competency in medical education.

  19. A study on scientific collaboration and co-authorship patterns in library and information science studies in Iran between 2005 and 2009

    PubMed Central

    Siamaki, Saba; Geraei, Ehsan; Zare- Farashbandi, Firoozeh

    2014-01-01

    Background: Scientific collaboration is among the most important subjects in scientometrics, and many studies have investigated this concept to this day. The goal of the current study is investigation of scientific collaboration and co-authorship patterns of researchers in the field of library and information science in Iran between years 2005 and 2009. Materials and Methods: The current study uses scientometrics method. The statistical population consists of 942 documents published in Iranian library and information science journals between years 2005 and 2009. Collaboration coefficient, collaboration index (CI), and degree of collaboration (DC) were used for data analysis. Findings: The findings showed that among 942 investigated documents, 506 documents (53.70%) was created by one individual researcher and 436 documents (46.30%) were the result of collaboration between two or more researchers. Also, the highest rank of different authorship patterns belonged to National Journal of Librarianship and Information Organization (code H). Conclusion: The average collaboration coefficient for the library and information science researchers in the investigated time frame was 0.23. The closer this coefficient is to 1, the higher is the level of collaboration between authors, and a coefficient near zero shows a tendency to prefer individual articles. The highest collaboration index with an average of 1.92 authors per paper was seen in year 1388. The five year collaboration index in library and information science in Iran was 1.58, and the average degree of collaboration between researchers in the investigated papers was 0.46, which shows that library and information science researchers have a tendency for co-authorship. However, the co-authorship had increased in recent years reaching its highest number in year 1388. The researchers’ collaboration coefficient also shows relative increase between years 1384 and 1388. National Journal of Librarianship and Information Organization has the highest rank among all the investigated journals based on collaboration coefficient, collaboration index (CI), and degree of collaboration (DC). PMID:25250365

  20. A study on scientific collaboration and co-authorship patterns in library and information science studies in Iran between 2005 and 2009.

    PubMed

    Siamaki, Saba; Geraei, Ehsan; Zare-Farashbandi, Firoozeh

    2014-01-01

    Scientific collaboration is among the most important subjects in scientometrics, and many studies have investigated this concept to this day. The goal of the current study is investigation of scientific collaboration and co-authorship patterns of researchers in the field of library and information science in Iran between years 2005 and 2009. The current study uses scientometrics method. The statistical population consists of 942 documents published in Iranian library and information science journals between years 2005 and 2009. Collaboration coefficient, collaboration index (CI), and degree of collaboration (DC) were used for data analysis. The findings showed that among 942 investigated documents, 506 documents (53.70%) was created by one individual researcher and 436 documents (46.30%) were the result of collaboration between two or more researchers. Also, the highest rank of different authorship patterns belonged to National Journal of Librarianship and Information Organization (code H). The average collaboration coefficient for the library and information science researchers in the investigated time frame was 0.23. The closer this coefficient is to 1, the higher is the level of collaboration between authors, and a coefficient near zero shows a tendency to prefer individual articles. The highest collaboration index with an average of 1.92 authors per paper was seen in year 1388. The five year collaboration index in library and information science in Iran was 1.58, and the average degree of collaboration between researchers in the investigated papers was 0.46, which shows that library and information science researchers have a tendency for co-authorship. However, the co-authorship had increased in recent years reaching its highest number in year 1388. The researchers' collaboration coefficient also shows relative increase between years 1384 and 1388. National Journal of Librarianship and Information Organization has the highest rank among all the investigated journals based on collaboration coefficient, collaboration index (CI), and degree of collaboration (DC).

  1. Midwives' and health visitors' collaborative relationships: A systematic review of qualitative and quantitative studies.

    PubMed

    Aquino, Maria Raisa Jessica Ryc V; Olander, Ellinor K; Needle, Justin J; Bryar, Rosamund M

    2016-10-01

    Interprofessional collaboration between midwives and health visitors working in maternal and child health services is widely encouraged. This systematic review aimed to identify existing and potential areas for collaboration between midwives and health visitors; explore the methods through which collaboration is and can be achieved; assess the effectiveness of this relationship between these groups, and ascertain whether the identified examples of collaboration are in line with clinical guidelines and policy. A narrative synthesis of qualitative and quantitative studies. Fourteen electronic databases, research mailing lists, recommendations from key authors and reference lists and citations of included papers. Papers were included if they explored one or a combination of: the areas of practice in which midwives and health visitors worked collaboratively; the methods that midwives and health visitors employed when communicating and collaborating with each other; the effectiveness of collaboration between midwives and health visitors; and whether collaborative practice between midwives and health visitors meet clinical guidelines. Papers were assessed for study quality. Eighteen papers (sixteen studies) met the inclusion criteria. The studies found that midwives and health visitors reported valuing interprofessional collaboration, however this was rare in practice. Findings show that collaboration could be useful across the service continuum, from antenatal care, transition of care/handover, to postnatal care. Evidence for the effectiveness of collaboration between these two groups was equivocal and based on self-reported data. In relation, multiple enablers and barriers to collaboration were identified. Communication was reportedly key to interprofessional collaboration. Interprofessional collaboration was valuable according to both midwives and health visitors, however, this was made challenging by several barriers such as poor communication, limited resources, and poor understanding of each other's role. Structural barriers such as physical distance also featured as a challenge to interprofessional collaboration. Although the findings are limited by variable methodological quality, these were consistent across time, geographical locations, and health settings, indicating transferability and reliability. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  2. Leaders' Experiences with High School-College Writing Center Collaborations: A Qualitative Multiple-Case Study

    ERIC Educational Resources Information Center

    Story, Julie A.

    2014-01-01

    The purpose of this qualitative multiple-case study was to explore academic leaders' experiences with the organizational elements of their own high school-college writing center collaborations. Conjoining theories framed this study: collaborative leadership theory, Kenneth Bruffee's notion of social constructionism and collaborative learning…

  3. Negotiating a Team Identity through Collaborative Self-Study

    ERIC Educational Resources Information Center

    Tuval, Smadar; Barak, Judith; Gidron, Ariela

    2011-01-01

    This study presents our emerging understanding of the meaning of collaborative self-study as one of the mechanisms that facilitates effective, productive collaboration. Stemming from our experience of collaborative professional life over eight years, we explore the crisis we confronted as a professional learning community, the tensions underlying…

  4. Participation, Interaction and Social Presence: An Exploratory Study of Collaboration in Online Peer Review Groups

    ERIC Educational Resources Information Center

    Zhao, Huahui; Sullivan, Kirk P. H.; Mellenius, Ingmarie

    2014-01-01

    A key reason for using asynchronous computer conferencing in instruction is its potential for supporting collaborative learning. However, few studies have examined collaboration in computer conferencing. This study examined collaboration in six peer review groups within an asynchronous computer conferencing. Eighteen tertiary students participated…

  5. EPCAL: ETS Platform for Collaborative Assessment and Learning. Research Report. ETS RR-17-49

    ERIC Educational Resources Information Center

    Hao, Jiangang; Liu, Lei; von Davier, Alina A.; Lederer, Nathan; Zapata-Rivera, Diego; Jaki, Peter; Bakkenson, Michael

    2017-01-01

    Most existing software tools for online collaboration are designed to support the collaboration itself instead of the study of collaboration with a systematic team and task management system. In this report, we identify six important features for a platform to facilitate the study of online collaboration. We then introduce the Educational Testing…

  6. Coming to terms: a case study of hospice collaboration challenges.

    PubMed

    Pietroburgo, Julie; Bush, Richard

    Recent research has focused on the growing phenomenon of mergers, collaborations, and alliances among nonprofit organizations and what makes such arrangements work. Examination of failed collaborative efforts is perhaps just as instructive. This case study examines recent attempts at collaboration between 2 nonprofit hospice organizations. The study finds that despite compelling reasons for and significant commonalities on which to base collaboration, the organizations were initially unable to forge any ongoing and substantive collaborative arrangement because of insurmountable cultural factors and past history. Furthermore, without imminent external pressures to collaborate, these organizations had insufficient motivation to attempt to move beyond their differences. The case also reviews the changed circumstances and factors that later facilitated partnering attempts.

  7. Culturable diversity and biochemical features of thraustochytrids from coastal waters of Southern China.

    PubMed

    Liu, Ying; Singh, Purnima; Sun, Yuan; Luan, Shengji; Wang, Guangyi

    2014-04-01

    Thraustochytrids are ubiquitous marine osmo-heterotrophic fungi-like microorganisms with only about 40 identified species till now. In this study, a total of 60 thraustochytrid strains were isolated from marine coastal habitats. Analysis of 18S rRNA gene sequences revealed that they belonged to three genera, i.e., Schizochytrium, Aurantiochytrium, and Thraustochytrium. All of the isolates were found to show considerable cellulolytic and lipolytic activities. Strains of Aurantiochytrium sp. and Thraustochytrium sp. were found to produce the highest levels of extracellular polysaccharides (EPS), which reached 345 μg ml(-1) in the growth media. Fourier transform infrared (FTIR) spectra of the EPS samples derived from two thraustochytrids (PKU#Sed1 and #SW1) displayed peaks for carbohydrates, proteins, lipids, uronic acids, and nucleic acids. Fatty acid profiles of four thraustochytrids comprised of palmitic acid (C16:0) and docosahexaenoic acid (DHA) as their major constituents. Schizochytrium sp. demonstrated the highest DHA production at 44 % of total fatty acids (TFA) with biomass and DHA yield of 7.1 and 1.6 g l(-1), respectively, on the fourth day of growth. All the four isolates exhibited considerable production of palmitic acid (16:0) in their fatty acid profiles ranging from 35 to 50 % TFA. This is the first report on extracellular enzymes, EPS, and DHA production from thraustochytrids isolated from the coastal habitats of China.

  8. The influence of learning methods on collaboration: prior repeated retrieval enhances retrieval organization, abolishes collaborative inhibition, and promotes post-collaborative memory.

    PubMed

    Congleton, Adam R; Rajaram, Suparna

    2011-11-01

    Research on collaborative memory has unveiled the counterintuitive yet robust phenomenon that collaboration impairs group recall. A candidate explanation for this collaborative inhibition effect is the disruption of people's idiosyncratic retrieval strategies during collaboration, and it is hypothesized that employing methods that improve one's organization protects against retrieval disruption. Here it is investigated how one's learning method during the study phase--defined as either repeatedly studying or repeatedly retrieving information--influences retrieval organization and what effects this has on collaborative recall and post-collaborative individual recall. Results show that repeated retrieval consistently eliminated collaborative inhibition. This enabled participants to gain the most from re-exposure to materials recalled by their partners that they themselves did not recall and led to improvements in their individual memory following collaboration. This repeated retrieval advantage stemmed from the preferential manner in which this learning method strengthened retrieval organization. Findings are also discussed that reveal a relationship between retrieval organization and the interaction observed between learning method and short versus long delay seen in the testing effect literature. Finally, results show that the elusive benefits of cross-cuing during collaboration may be best detected with a longer study-test delay. Together, these findings illuminate when and how collaboration can enhance memory.

  9. Study on Collaborative Object Manipulation in Virtual Environment

    NASA Astrophysics Data System (ADS)

    Mayangsari, Maria Niken; Yong-Moo, Kwon

    This paper presents comparative study on network collaboration performance in different immersion. Especially, the relationship between user collaboration performance and degree of immersion provided by the system is addressed and compared based on several experiments. The user tests on our system include several cases: 1) Comparison between non-haptics and haptics collaborative interaction over LAN, 2) Comparison between non-haptics and haptics collaborative interaction over Internet, and 3) Analysis of collaborative interaction between non-immersive and immersive display environments.

  10. A Pilot Study: Facilitating Cross-Cultural Understanding with Project-Based Collaborative Learning in an Online Environment

    ERIC Educational Resources Information Center

    Shadiev, Rustam; Hwang, Wu-Yuin; Huang, Yueh-Min

    2015-01-01

    This study investigated three aspects: how project-based collaborative learning facilitates cross-cultural understanding; how students perceive project-based collaborative learning implementation in a collaborative cyber community (3C) online environment; and what types of communication among students are used. A qualitative case study approach…

  11. A Web-Based Synchronous Collaborative Review Tool: A Case Study of an On-Line Graduate Course

    ERIC Educational Resources Information Center

    Serce, Fatma Cemile; Yildirim, Soner

    2006-01-01

    On-line collaboration is an instructional method that facilitates collaboration in an on-line learning setting. To promote effective collaboration, it is vital to reveal both the student's and the instructor's point of view pertaining to effective on-line collaboration. In this study, the effectiveness of a learning management system in on-line…

  12. Simultaneous determination of creatinine, creatine, and UV-absorbing amino acids using dual-mode gradient low-capacity cation-exchange chromatography.

    PubMed

    Yokoyama, Yukio; Tsuji, Sachiyo; Sato, Hisakuni

    2005-08-26

    A simple and versatile cation-exchange chromatography technique for the simultaneous determination of urinary creatinine (Cre), creatine (Crn), methionine (Met), tyrosine (Tyr), phenylalanine (Phe), histidine (His), and tryptophan (Trp) was developed. A novel low-capacity cation-exchange column packed with a newly developed sulfoacylated hypercross-linked macroreticular polystyrene-divinylbenzene resin, referred to as TMR-A/75 (capacity: 75 microequiv/column), was successfully used with a binary dual-mode gradient eluting system. Two solvents, (A) 25 mM phosphoric acid-methanol (30:70, v/v) and (B) 25 mM disodium hydrogenphosphate-methanol (30:70, v/v) were pumped through the column by programming solvent delivery ratios as 0 to 5 min: A-B (55:45, pH 3.6); 5-21 min: A-B (49:51, pH 5.3); and 21-35 min: A-B (55:45, pH 3.6). The flow rate was simultaneously time-programmed to be 0.6 mL/min from 0 to 19 min and to be 1.0 mL/min from 19 to 35 min. This eluting system could permit the use of the UV detection at 210 nm. The analytes, Crn, Met, Tyr, His, Cre, Phe, and Trp, were well separated in this order in 27 min with minimum resolution of approximately 2, and the cycle time was about 35 min. Retention time of each analyte was very reproducible with relative standard deviations (RSDs) between 0.05 and 0.38% (n = 5). The peak area responses were also reproducible with RSDs between 0.74 and 2.24% (n = 5). Calibration lines based on area data were linear from 1 to 1000 microM with r2 values of 0.9998 (Crn), 0.9998 (Met), 0.9999 (Tyr), 0.9999 (His), 1.0000 (Cre), 1.0000 (Phe), and 0.9999 (Trp). The method was applicable to the screening and/or chemical diagnosis of inherited metabolic disorders such as phenylketonuria (PKU), tyrosinemia, and Lowe syndrome. The creatinine ratios of diagnostic markers (microM/microM Cre) were easily determined. The Phe/Cre ratios for five urines from patients with PKU ranged from 0.162 to 0.521, and the Tyr/Cre ratio for tyrosinemia was 0.147. The ratios of Tyr/Cre, Phe/Cre, and Trp/Cre for Lowe syndrome were 0.497, 0.321, and 0.495, respectively. In contrast, the creatinine ratios for healthy newborns showed one digit lower than those for patients did. The developed method is very practical and can provide useful information and results for the clinical or biomedical researches with low analytical run costs.

  13. Comparative study on collaborative interaction in non-immersive and immersive systems

    NASA Astrophysics Data System (ADS)

    Shahab, Qonita M.; Kwon, Yong-Moo; Ko, Heedong; Mayangsari, Maria N.; Yamasaki, Shoko; Nishino, Hiroaki

    2007-09-01

    This research studies the Virtual Reality simulation for collaborative interaction so that different people from different places can interact with one object concurrently. Our focus is the real-time handling of inputs from multiple users, where object's behavior is determined by the combination of the multiple inputs. Issues addressed in this research are: 1) The effects of using haptics on a collaborative interaction, 2) The possibilities of collaboration between users from different environments. We conducted user tests on our system in several cases: 1) Comparison between non-haptics and haptics collaborative interaction over LAN, 2) Comparison between non-haptics and haptics collaborative interaction over Internet, and 3) Analysis of collaborative interaction between non-immersive and immersive display environments. The case studies are the interaction of users in two cases: collaborative authoring of a 3D model by two users, and collaborative haptic interaction by multiple users. In Virtual Dollhouse, users can observe physics law while constructing a dollhouse using existing building blocks, under gravity effects. In Virtual Stretcher, multiple users can collaborate on moving a stretcher together while feeling each other's haptic motions.

  14. Short-term and long-term collaboration benefits on individual recall in younger and older adults

    PubMed Central

    Stern, Yaakov

    2011-01-01

    A recent study of younger adults suggests that, compared to repeated individual recall trials, repeated collaborative recall trials produce better individual recall after a short delay (Blumen & Rajaram, 2008). Our study was designed to determine if such collaboration benefits would remain after a one-week delay, in both younger and older adults. Sixty younger (M age = 24.60) and 60 older (M age = 67.35) adults studied a list of words and then completed either two collaborative recall trials followed by two individual recall trials, or four individual recall trials. A five-min delay was inserted between the first three recall trials. The fourth recall trial was administered 1 week later. Collaborative recall was completed in groups of three individuals working together. Both younger and older adults benefitted from repeated collaborative recall trials to a greater extent than repeated individual recall trials, and such collaboration benefits remained after a one-week delay. This is the first demonstration of collaboration benefits on later individual recall at delays as long as 1 week, in both younger and older adults. Findings are discussed within the context of the negative effects of collaboration associated with group memory (collaborative inhibition) and the positive effects of collaboration associated with later individual memory (collaboration benefits). PMID:21264617

  15. Short-term and long-term collaboration benefits on individual recall in younger and older adults.

    PubMed

    Blumen, Helena M; Stern, Yaakov

    2011-01-01

    A recent study of younger adults suggests that, compared to repeated individual recall trials, repeated collaborative recall trials produce better individual recall after a short delay (Blumen & Rajaram, 2008). Our study was designed to determine if such collaboration benefits would remain after a one-week delay, in both younger and older adults. Sixty younger (M age = 24.60) and 60 older (M age = 67.35) adults studied a list of words and then completed either two collaborative recall trials followed by two individual recall trials, or four individual recall trials. A five-min delay was inserted between the first three recall trials. The fourth recall trial was administered 1 week later. Collaborative recall was completed in groups of three individuals working together. Both younger and older adults benefitted from repeated collaborative recall trials to a greater extent than repeated individual recall trials, and such collaboration benefits remained after a one-week delay. This is the first demonstration of collaboration benefits on later individual recall at delays as long as 1 week, in both younger and older adults. Findings are discussed within the context of the negative effects of collaboration associated with group memory (collaborative inhibition) and the positive effects of collaboration associated with later individual memory (collaboration benefits).

  16. Collaboration enhances later individual memory for emotional material.

    PubMed

    Bärthel, Gwennis A; Wessel, Ineke; Huntjens, Rafaële J C; Verwoerd, Johan

    2017-05-01

    Research on collaborative remembering suggests that collaboration hampers group memory (i.e., collaborative inhibition), yet enhances later individual memory. Studies examining collaborative effects on memory for emotional stimuli are scarce, especially concerning later individual memory. In the present study, female undergraduates watched an emotional movie and recalled it either collaboratively (n = 60) or individually (n = 60), followed by an individual free recall test and a recognition test. We replicated the standard collaborative inhibition effect. Further, in line with the literature, the collaborative condition displayed better post-collaborative individual memory. More importantly, in post-collaborative free recall, the centrality of the information to the movie plot did not play an important role. Recognition rendered slightly different results. Although collaboration rendered more correct recognition for more central details, it did not enhance recognition of background details. Secondly, the collaborative and individual conditions did not differ with respect to overlap of unique correct items in free recall. Yet, during recognition former collaborators more unanimously endorsed correct answers, as well as errors. Finally, extraversion, neuroticism, social anxiety, and depressive symptoms did not moderate the influence of collaboration on memory. Implications for the fields of forensic and clinical psychology are discussed.

  17. Methodological Challenges for Collaborative Learning Research

    ERIC Educational Resources Information Center

    Strijbos, Jan-Willem; Fischer, Frank

    2007-01-01

    Research on collaborative learning, both face-to-face and computer-supported, has thrived in the past 10 years. The studies range from outcome-oriented (individual and group learning) to process-oriented (impact of interaction on learning processes, motivation and organisation of collaboration) to mixed studies. Collaborative learning research is…

  18. Effectiveness of Collaborative Learning with 3D Virtual Worlds

    ERIC Educational Resources Information Center

    Cho, Young Hoan; Lim, Kenneth Y. T.

    2017-01-01

    Virtual worlds have affordances to enhance collaborative learning in authentic contexts. Despite the potential of collaborative learning with a virtual world, few studies investigated whether it is more effective in student achievements than teacher-directed instruction. This study investigated the effectiveness of collaborative problem solving…

  19. Global and Local Collaborators: A Study of Scientific Collaboration.

    ERIC Educational Resources Information Center

    Pao, Miranda Lee

    1992-01-01

    Describes an empirical study that was conducted to examine the relationship among scientific co-authorship (i.e., collaboration), research funding, and productivity. Bibliographic records from the MEDLINE database that used the subject heading for schistosomiasis are analyzed, global and local collaborators are discussed, and scientific…

  20. Who needs collaborative care treatment? A qualitative study exploring attitudes towards and experiences with mental healthcare among general practitioners and care managers.

    PubMed

    Møller, Marlene Christina Rosengaard; Mygind, Anna; Bro, Flemming

    2018-05-30

    Collaborative care treatment is widely recognized as an effective approach to improve the quality of mental healthcare through enhanced and structured collaboration between general practice and specialized psychiatry. However, studies indicate that the complexity of collaborative care treatment interventions challenge the implementation in real-life general practice settings. Four Danish Collaborative Care Models were launched in 2014 for patients with mild/moderate anxiety and depression. These involved collaboration between general practitioners, care managers and consultant psychiatrists. Taking a multi-practice bottom-up approach, this paper aims to explore the perceived barriers and enablers related to collaborative care for patients with mental health problems and to investigate the actual experiences with a Danish collaborative care model in a single-case study in order to identify enablers and barriers for successful implementation. Combining interviews and observations of usual treatment practices, we conducted a multi-practice study among general practitioners who were not involved in the Danish collaborative care models to explore their perspectives on existing mental health treatment and to investigate (from a bottom-up approach) their perceptions of and need for collaborative care in mental health treatment. Additionally, by combining observations and qualitative interviews, we followed the implementation of a Danish collaborative care model in a single-case study to convey identified barriers and enablers of the collaborative care model. Experienced and perceived enablers of the Danish collaborative care model mainly consisted of a need for new treatment options to deal with mild/moderate anxiety and depression. The model was considered to meet the need for a free fast track to high-quality treatment. Experienced barriers included: poor adaptation of the model to the working conditions and needs in daily general practice, time consumption, unsustainable logistical set-up and unclear care manager role. General practitioners in the multi-practice study considered access to treatment and not collaboration with specialised psychiatry to be essential for this group of patients. The study calls for increased attention to implementation processes and better adaptation of collaborative care models to the clinical reality of general practice. Future interventions should address the treatment needs of specific patient populations and should involve relevant stakeholders in the design and implementation processes.

  1. Are They Thinking Differently: A Cross-Cultural Study on the Relationship of Thinking Styles and Emerging Roles in Computer-Supported Collaborative Learning

    ERIC Educational Resources Information Center

    Gu, Xiaoqing; Wang, Huawen; Mason, Jon

    2017-01-01

    Numerous studies have recognized collaboration as an effective way of learning. When collaboration involves students from different cultural backgrounds, a question arises: "Will cultural differences influence the manner in which roles are adopted within collaborative learning?" In this study, a correlation analysis was used to explore…

  2. The Meaning of Collaboration, from the Perspective of Iranian Nurses: A Qualitative Study

    PubMed Central

    Zamanzadeh, V.; Irajpour, A.; Valizadeh, L.; Shohani, M.

    2014-01-01

    Background. Interdisciplinary collaboration among nurses is a complex and multifaceted process, an essential element in nursing, which is crucial to maintain an efficient, safe, and viable medical setting. The aim of this study was to explore the meaning of concept of collaboration through conducting a qualitative research approach. Method. The present study is qualitatively conducted in a content analysis approach. The data collection process included 18 unstructured and in-depth interviews with nurses during 2012-2013 in educational medical centers of west and northwest of Iran. A purposive sampling method was used. All the interviews were recorded, transcribed, and finally analyzed using a qualitative content analysis with a conventional method. Result. Categories obtained from analysis of the data to explain the meaning of collaboration consist of (i) prerequisites of collaboration, (ii) actualization of collaboration, and (iii) achievement of a common goal. Conclusion. The results of the present study ended in the discovery of meaning of collaboration that confirm results of other related studies, hence clarifying and disambiguating the concept under study. These results also contribute to the development of collaboration theories and the relevant measurement tools. PMID:25587572

  3. Research Collaboration across Higher Education Systems: Maturity, Language Use, and Regional Differences

    ERIC Educational Resources Information Center

    Shin, Jung Cheol; Lee, Soo Jeung; Kim, Yangson

    2013-01-01

    This study analyzed whether research collaboration patterns differ across higher education systems based on maturity of the systems, their language, and their geographical region. This study found that collaboration patterns differ across higher education systems: academics in developed systems are more collaborative than their colleagues in…

  4. Interaction Forms in Successful Collaborative Learning in Virtual Learning Environments

    ERIC Educational Resources Information Center

    Vuopala, Essi; Hyvönen, Pirkko; Järvelä, Sanna

    2016-01-01

    Despite the numerous studies on social interaction in collaborative learning, little is known about interaction forms in successful computer-supported collaborative learning situations. The purpose of this study was to explore and understand student interaction in successful collaborative learning during a university course which was mediated by…

  5. Assessing Learners' Perceived Readiness for Computer-Supported Collaborative Learning (CSCL): A Study on Initial Development and Validation

    ERIC Educational Resources Information Center

    Xiong, Yao; So, Hyo-Jeong; Toh, Yancy

    2015-01-01

    The main purpose of this study was to develop an instrument that assesses university students' perceived readiness for computer-supported collaborative learning (CSCL). Assessment in CSCL research had predominantly focused on measuring "after-collaboration" outcomes and "during-collaboration" behaviors while…

  6. A Delphi Study on Collaborative Learning in Distance Education: The Faculty Perspective

    ERIC Educational Resources Information Center

    O'Neill, Susan; Scott, Murray; Conboy, Kieran

    2011-01-01

    This paper focuses on the factors that influence collaborative learning in distance education. Distance education has been around for many years and the use of collaborative learning techniques in distance education is becoming increasingly popular. Several studies have demonstrated the superiority of collaborative learning over traditional modes…

  7. The Therapeutic Collaboration in Life Design Counselling: The Case of Ryan

    ERIC Educational Resources Information Center

    do Céu Taveira, Maria; Ribeiro, Eugénia; Cardoso, Paulo; Silva, Filipa

    2017-01-01

    This study examined the therapeutic collaboration in a case of Life Design Counseling (LDC) with narrative change and positive career outcomes. The therapeutic collaboration-change model and correspondent coding system were used to intensively study the helping relationship throughout three sessions of LDC. The collaboration coding system enables…

  8. Patterns of Change in Collaboration Are Associated with Baseline Characteristics and Predict Outcome and Dropout Rates in Treatment of Multi-Problem Families. A Validation Study

    PubMed Central

    Bachler, Egon; Fruehmann, Alexander; Bachler, Herbert; Aas, Benjamin; Nickel, Marius; Schiepek, Guenter K.

    2017-01-01

    Objective: The present study validates the Multi-Problem Family (MPF)-Collaboration Scale), which measures the progress of goal directed collaboration of patients in the treatment of families with MPF and its relation to drop-out rates and treatment outcome. Method: Naturalistic study of symptom and competence-related changes in children of ages 4–18 and their caregivers. Setting: Integrative, structural outreach family therapy. Measures: The data of five different groups of goal directed collaboration (deteriorating collaboration, stable low collaboration, stable medium collaboration, stable high collaboration, improving collaboration) were analyzed in their relation to treatment expectation, individual therapeutic goals (ITG), family adversity index, severity of problems and global assessment of a caregiver’s functioning, child, and relational aspects. Results: From N = 810 families, 20% displayed stable high collaboration (n = 162) and 21% had a pattern of improving collaboration. The families with stable high or improving collaboration rates achieved significantly more progress throughout therapy in terms of treatment outcome expectancy (d = 0.96; r = 0.43), reaching ITG (d = 1.17; r = 0.50), family adversities (d = 0.55; r = 0.26), and severity of psychiatric symptoms (d = 0.31; r = 0.15). Furthermore, families with stable high or improving collaboration maintained longer treatments and had a bigger chance of finishing the therapy as planned. The odds of having a stable low or deteriorating collaboration throughout treatment were significantly higher for subjects who started treatment with low treatment expectation or high family-related adversities. Conclusion: The positive outcomes of homebased interventions for multi-problem families are closely related to “stable high” and an “improving” collaboration as measured with the MPF-Collaboration Scale. Patients who fall into these groups have a high treatment outcome expectancy and reduce psychological stress. For therapeutic interventions with multi-problem families it seems beneficial to maintain a stable high collaboration or help the collaboration, e.g., by fostering treatment expectation. PMID:28785232

  9. A case study of collaboration in science education: Integrating informal learning experiences into the school curriculum

    NASA Astrophysics Data System (ADS)

    Robertson, Amy Michelle

    This is a study of a collaboration between multiple stakeholders in science education for the purpose of creating educational field trip experiences. The collaboration involves four major facets of science education: formal education at the elementary and university levels, informal education, and educational research. The primary participants in the collaboration include two elementary school teachers, a scientist from a local university, an informal educator from an environmental education site, and the researcher acting as a participant observer. The coming together of these different sides of science education provided a unique opportunity to explore the issues and experiences that emerged as such a partnership was formed and developed. Strongly influenced by action research, this study is a qualitative case study. The data was collected by means of observation, semi-structured interviews, and written document review, in order to provide both a descriptive and an interpretive account of this collaboration. The final analysis integrates a description of the participants' experiences as evidenced in the data with the issues that arose from these experiences. The evolution of the collaborators' roles was examined, as was the development of shared vision. In this study, there were several factors that significantly affected the progress towards a shared vision and a successful collaboration. These factors include time, communication, understanding others' perspectives, dedication and ownership, as well as the collaborative environment. Each collaborator benefited both professionally and personally from their participation in the collaboration. In addition, the students gained cognitively, affectively, and socially from the educational experiences created through the collaboration. Steps, such as working towards communication and understanding others' perspectives, should continue to be taken to ensure the collaboration continues beyond the term of the current key participants.

  10. Understanding collaboration in a multi-national research capacity-building partnership: a qualitative study.

    PubMed

    Varshney, Dinansha; Atkins, Salla; Das, Arindam; Diwan, Vishal

    2016-08-18

    Research capacity building and its impact on policy and international research partnership is increasingly seen as important. High income and low- and middle-income countries frequently engage in research collaborations. These can have a positive impact on research capacity building, provided such partnerships are long-term collaborations with a unified aim, but they can also have challenges. What are these challenges, which often result in a short term/ non viable collaboration? Does such collaboration results in capacity building? What are the requirements to make any collaboration sustainable? This study aimed to answer these and other research questions through examining an international collaboration in one multi-country research capacity building project ARCADE RSDH (Asian Regional Capacity Development for Research on Social Determinants of Health). A qualitative study was conducted that focused on the reasons for the collaboration, collaboration patterns involved, processes of exchanging information, barriers faced and perceived growth in research capacity. In-depth interviews were conducted with the principal investigators (n = 12), research assistants (n = 2) and a scientific coordinator (n = 1) of the collaborating institutes. Data were analysed using thematic framework analysis. The initial contact between institutes was through previous collaborations. The collaboration was affected by the organisational structure of the partner institutes, political influences and the collaboration design. Communication was usually conducted online, which was affected by differences in time and language and inefficient infrastructure. Limited funding resulted in restricted engagement by some partners. This study explored work in a large, North-South collaboration project focusing on building research capacity in partner institutes. The project helped strengthen research capacity, though differences in organization types, existing research capacity, culture, time, and language acted as obstacles to the success of the project. Managing these differences requires preplanned strategies to develop functional communication channels among the partners, maintaining transparency, and sharing the rewards and benefits at all stages of collaboration.

  11. World scientific collaboration in coronary heart disease research.

    PubMed

    Yu, Qi; Shao, Hongfang; He, Peifeng; Duan, Zhiguang

    2013-08-10

    Coronary heart disease (CHD) will continue to exert a heavy burden for countries all over the world. Scientific collaboration has become the only choice for progress in biomedicine. Unfortunately, there is a scarcity of scientific publications about scientific collaboration in CHD research. This study examines collaboration behaviors across multiple collaboration types in the CHD research. 294,756 records about CHD were retrieved from Web of Science. Methods such as co-authorship, social network analysis, connected component, cliques, and betweenness centrality were used in this study. Collaborations have increased at the author, institution and country/region levels in CHD research over the past three decades. 3000 most collaborative authors, 572 most collaborative institutions and 52 countries/regions are extracted from their corresponding collaboration network. 766 cliques are found in the most collaborative authors. 308 cliques are found in the most collaborative institutions. Western countries/regions represent the core of the world's collaboration. The United States ranks first in terms of number of multi-national publications, while Hungary leads in the ranking measured by their proportion of collaborative output. The rate of economic development in the countries/regions also affects the multi-national collaboration behavior. Collaborations among countries/regions need to be encouraged in the CHD research. The visualization of overlapping cliques in the most collaborative authors and institutions are considered "skeleton" of the collaboration network. Eastern countries/regions should strengthen cooperation with western countries/regions in the CHD research. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  12. An analysis of national collaboration with Spanish researchers abroad in the health sciences.

    PubMed

    Aceituno-Aceituno, Pedro; Romero-Martínez, Sonia Janeth; Victor-Ponce, Patricia; García-Núñez, José

    2015-11-07

    The establishment of scientific collaborations with researchers abroad can be considered a good practice to make appropriate use of their knowledge and to increase the possibilities of them returning to their country. This paper analyses the collaboration between Spanish researchers abroad devoted to health sciences and national science institutions. We used the Fontes' approach to perform a study on this collaboration with Spanish researchers abroad. We measured the level of national and international cooperation, the opportunity provided by the host country to collaborate, the promotion of collaboration by national science institutions, and the types of collaboration. A total of 88 biomedical researchers out of the 268 Spanish scientists who filled up the survey participated in the study. Different data analyses were performed to study the variables selected to measure the scientific collaboration and profile of Spanish researchers abroad. There is a high level of cooperation between Spanish health science researchers abroad and international institutions, which contrasts with the small-scale collaboration with national institutions. Host countries facilitate this collaboration with national and international scientific institutions to a larger extent than the level of collaboration promotion carried out by Spanish institutions. The national collaboration with Spanish researchers abroad in the health sciences is limited. Thus, the practice of making appropriate use of the potential of their expertise should be promoted and the opportunities for Spanish health science researchers to return home should be improved.

  13. Perceived Benefits of Collaboration Between Local Health Departments and Schools and Programs of Public Health: A Mixed-Methods Study.

    PubMed

    Kovach, Kevin A; Welter, Christina R; Seweryn, Steven M; Torres, Griselle

    2018-06-20

    Collaboration between local health departments (LHDs) and schools and programs of public health (SPPH) may be a way to improve practice, education, and research. However, little is known about why LHDs and SPPH collaborate. This mixed-methods study addressed this issue by exploring what LHDs and SPPH perceive to be beneficial about their collaboration. A mixed-methods study using quantitative and qualitative data was conducted. A survey of 2000 LHDs that completed the 2013 National Profile of LHDs measured how important and effective LHDs perceived 30 indicators of the 10 essential public health services to be for collaboration with SPPH. Focus groups were held with LHD officials and the faculty from SPPH to further explore their perceptions of the mutual benefits of their collaboration. This study showed that LHD officials and the faculty from SPPH valued their collaborative work because it can improve education and training, support public health accreditation, enhance LHD credibility, enhance LHD technological capabilities, and improve research and evidence-based practice. Benefits increased with an increase in the degree of collaboration. This also showed that LHD officials would like to collaborate more closely with SPPH. Collaboration between LHDs and SPPH is mutually beneficial, and close collaboration can help transform public health practice, education, and research. In light of this, more attention should be paid to developing goals and objectives for a collaborative agenda. Attention should be paid not only to the immediate needs of the organizations and individuals involved but also to their long-term goals and underlying desires. Funding opportunities to support the development of partnerships between LHDs and SPPH are needed to provide tangible tasks and opportunities for taking a more long-term and strategic view for collaborative relationships.

  14. Collaborative research: Accomplishments & potential

    PubMed Central

    Katsouyanni, Klea

    2008-01-01

    Although a substantial part of scientific research is collaborative and increasing globalization will probably lead to its increase, very few studies actually investigate the advantages, disadvantages, experiences and lessons learned from collaboration. In environmental epidemiology interdisciplinary collaboration is essential and the contrasting geographical patterns in exposure and disease make multi-location projects essential. This paper is based on a presentation given at the Annual Conference of the International Society for Environmental Epidemiology, Paris 2006, and is attempting to initiate a discussion on a framework for studying collaborative research. A review of the relevant literature showed that indeed collaborative research is rising, in some countries with impressive rates. However, there are substantial differences between countries in their outlook, need and respect for collaboration. In many situations collaborative publications receive more citations than those based on national authorship. The European Union is the most important host of collaborative research, mainly driven by the European Commission through the Framework Programmes. A critical assessment of the tools and trends of collaborative networks under FP6, showed that there was a need for a critical revision, which led to changes in FP7. In conclusion, it is useful to study the characteristics of collaborative research and set targets for the future. The added value for science and for the researchers involved may be assessed. The motivation for collaboration could be increased in the more developed countries. Particular ways to increase the efficiency and interaction in interdisciplinary and intercultural collaboration may be developed. We can work towards "the principles of collaborative research" in Environmental Epidemiology. PMID:18208596

  15. Students' Engagement in Collaborative Knowledge Construction in Group Assignments for Information Literacy

    ERIC Educational Resources Information Center

    Sormunen, Eero; Tanni, Mikko; Heinström, Jannica

    2013-01-01

    Introduction: Information literacy instruction is often undertaken in schools as collaborative source-based writing assignments. his paper presents the findings of a study on collaboration in two school assignments designed for information literacy. Method: The study draws on the models of cooperative and collaborative learning and the task-based…

  16. Using a Wiki to Collaborate on a Study Guide

    ERIC Educational Resources Information Center

    Lending, Diane

    2010-01-01

    This paper introduces an end-of-semester assignment to create a study guide for the final exam. This assignment helps with two objectives of an introductory Management Information Systems course: collaboration and using Web 2.0 technologies. We argue that to truly understand collaboration, students must learn more than what collaboration is, they…

  17. Collaboration, Intragroup Conflict, and Social Skills in Project-Based Learning

    ERIC Educational Resources Information Center

    Lee, Dabae; Huh, Yeol; Reigeluth, Charles M.

    2015-01-01

    This case study was conducted in two high school classrooms that utilized collaborative project-based learning (PBL). Collaboration is an important instructional strategy, especially used in conjunction with PBL, and is an essential learning outcome for the twenty-first century. This study examined how collaboration can be achieved as a learning…

  18. Benefits of Collaborative Writing for ESL Advanced Diploma Students in the Production of Reports

    ERIC Educational Resources Information Center

    Fong, Lin Siew

    2012-01-01

    This study analyzes the collaborative writing sessions of two groups of advanced diploma economics students with mixed proficiency. Although studies in collaborative writing usually highlight the mixed results of students' collaboration ranging from promoting peer learning to having unresolved conflict, the findings of this paper only provide the…

  19. Design and Evaluation of a Collaborative Learning Environment

    ERIC Educational Resources Information Center

    Wang, Qiyun

    2009-01-01

    Collaboration becomes an essential competency in the current knowledge society. In this study, a collaborative learning environment was designed to facilitate students in group collaboration. Instructional support strategies of friendship and meaningful learning tasks were applied to promote collaboration. Scaffolding strategies such as writing…

  20. Collaborative recall of details of an emotional film.

    PubMed

    Wessel, Ineke; Zandstra, Anna Roos E; Hengeveld, Hester M E; Moulds, Michelle L

    2015-01-01

    Collaborative inhibition refers to the phenomenon that when several people work together to produce a single memory report, they typically produce fewer items than when the unique items in the individual reports of the same number of participants are combined (i.e., nominal recall). Yet, apart from this negative effect, collaboration may be beneficial in that group members remove errors from a collaborative report. Collaborative inhibition studies on memory for emotional stimuli are scarce. Therefore, the present study examined both collaborative inhibition and collaborative error reduction in the recall of the details of emotional material in a laboratory setting. Female undergraduates (n = 111) viewed a film clip of a fatal accident and subsequently engaged in either collaborative (n = 57) or individual recall (n = 54) in groups of three. The results show that, across several detail categories, collaborating groups recalled fewer details than nominal groups. However, overall, nominal recall produced more errors than collaborative recall. The present results extend earlier findings on both collaborative inhibition and error reduction to the recall of affectively laden material. These findings may have implications for the applied fields of forensic and clinical psychology.

  1. Collaboration in academic medicine: reflections on gender and advancement.

    PubMed

    Carr, Phyllis L; Pololi, Linda; Knight, Sharon; Conrad, Peter

    2009-10-01

    Collaboration in academic medicine is encouraged, yet no one has studied the environment in which faculty collaborate. The authors investigated how faculty experienced collaboration and the institutional atmosphere for collaboration. In 2007, as part of a qualitative study of faculty in five disparate U.S. medical schools, the authors interviewed 96 medical faculty at different career stages and in diverse specialties, with an oversampling of women, minorities, and generalists, regarding their perceptions and experiences of collaboration in academic medicine. Data analysis was inductive and driven by the grounded theory tradition. Female faculty expressed enthusiasm about the potential and process of collaboration; male faculty were more likely to focus on outcomes. Senior faculty experienced a more collaborative environment than early career faculty, who faced numerous barriers to collaboration: the hierarchy of medical academe, advancement criteria, and the lack of infrastructure supportive of collaboration. Research faculty appreciated shared ideas, knowledge, resources, and the increased productivity that could result from collaboration, but they were acutely aware that advancement requires an independent body of work, which was a major deterrent to collaboration among early career faculty. Academic medicine faculty have differing views on the impact and benefits of collaboration. Early career faculty face concerning obstacles to collaboration. Female faculty seemed more appreciative of the process of collaboration, which may be of importance for transitioning to a more collaborative academic environment. A reevaluation of effective benchmarks for promotion of faculty is warranted to address the often exclusive reliance on individualistic achievement.

  2. Assessing Online Collaborative Discourse.

    PubMed

    Breen, Henny

    2015-01-01

    This qualitative study using transcript analysis was undertaken to clarify the value of Harasim's Online Collaborative Learning Theory as a way to assess the collaborative process within nursing education. The theory incorporated three phases: (a) idea generating; (b) idea organizing; and (c) intellectual convergence. The transcripts of asynchronous discussions from a 2-week module about disaster nursing using a virtual community were analyzed and formed the data for this study. This study supports the use of Online Collaborative Learning Theory as a framework for assessing online collaborative discourse. Individual or group outcomes were required for the students to move through all three phases of the theory. The phases of the Online Collaborative Learning Theory could be used to evaluate the student's ability to collaborate. It is recommended that group process skills, which have more to do with interpersonal skills, be evaluated separately from collaborative learning, which has more to do with cognitive skills. Both are required for practicing nurses. When evaluated separately, the student learning needs are more clearly delineated. © 2014 Wiley Periodicals, Inc.

  3. Nurses' professional values and attitudes toward collaboration with physicians.

    PubMed

    Brown, Sara S; Lindell, Deborah F; Dolansky, Mary A; Garber, Jeannie S

    2015-03-01

    Growing evidence suggests that collaborative practice improves healthcare outcomes, but the precursors to collaborative behavior between nurses and physicians have not been fully explored. The purpose of this descriptive correlational study was to describe the professional values held by nurses and their attitudes toward physician-nurse collaboration and to explore the relationships between nurses' characteristics (e.g. education, type of work) and professional values and their attitudes toward nurse-physician collaboration. This descriptive correlational study examines the relationship between nurses' professional values (Nurses Professional Values Scale-Revised) and their attitudes toward nurse-physician collaboration (Jefferson Scale of Attitudes toward Physician-Nurse Collaboration). Permission to conduct the study was received from the hospital, and the Institutional Review Boards of the healthcare system and the participating university. A convenience sample of 231 registered nurses from a tertiary hospital in the United States was surveyed. A significant positive relationship was found between nurses' professional values and better attitudes toward collaboration with physicians (r = .26, p < .01). Attitude toward collaboration with physicians was also positively associated with master's or higher levels of education (F(3, 224) = 4.379, p = .005). The results of this study can be helpful to nurse administrators who are responsible for developing highly collaborative healthcare teams and for nurse educators who are focused on developing professional values in future nurses. © The Author(s) 2014.

  4. The Phenomenon of Collaboration: A Phenomenologic Study of Collaboration between Family Medicine and Obstetrics and Gynecology Departments at an Academic Medical Center

    ERIC Educational Resources Information Center

    Brown, David R.; Brewster, Cheryl D.; Karides, Marina; Lukas, Lou A.

    2011-01-01

    Collaboration is essential to manage complex real world problems. We used phenomenologic methods to elaborate a description of collaboration between two departments at an academic medical center who considered their relationship to represent a model of effective collaboration. Key collaborative structures included a shared vision and commitment by…

  5. Locating Elementary Teachers' Professional Communities in a Structured Collaboration Environment

    ERIC Educational Resources Information Center

    Chu, Szu Yang

    2016-01-01

    As teacher collaboration becomes an increasingly common goal in school organization, teachers' experiences and perspectives in a Structured Collaboration Environment remain under-examined. This qualitative case study explored how teachers participated in collaborative work, the outcomes of collaboration, and supports and obstacles to productive…

  6. Assessing the Success Rate of Students Using a Learning Management System Together with a Collaborative Tool in Web-Based Teaching of Programming Languages

    ERIC Educational Resources Information Center

    Cavus, Nadire; Ibrahim, Dogan

    2007-01-01

    The development of collaborative studies in learning has led to a renewed interest in the field of Web-based education. In this experimental study a highly interactive and collaborative virtual teaching environment has been created by supporting Moodle LMS with collaborative learning tool GREWPtool. The aim of this experimental study has been to…

  7. Combining Collaborative Learning with Learning Management Systems in Teaching Programming Language

    ERIC Educational Resources Information Center

    Cavus, Nadire; Uzunboylu, Huseyin; Ibrahim, Dogan

    2006-01-01

    The development of collaborative studies in learning has led to a renewed interest in the field of web-based education. In this experimental study, a highly interactive and collaborative teaching environment was created using Moodle, a learning management system with two types of Collaborative Tools (CTs): Standard CT and Advanced CT to create a…

  8. Preservice Science Teachers' Collaborative Knowledge Building through Argumentation on Healthy Eating in a Computer Supported Collaborative Learning Environment

    ERIC Educational Resources Information Center

    Namdar, Bahadir

    2017-01-01

    The purpose of this study was to investigate preservice science teachers' collaborative knowledge building through socioscientific argumentation on healthy eating in a multiple representation-rich computer supported collaborative learning (CSCL) environment. This study was conducted with a group of preservice science teachers (n = 18) enrolled in…

  9. Devising and Interdisciplinary Teaching: A Case Study in Collaboration between Theatre and Humanities Courses

    ERIC Educational Resources Information Center

    Mahoney, Kristin; Brown, Rich

    2013-01-01

    We use an experimental course collaboration that occurred in the winter of 2012 as a case study for an approach to interdisciplinary collaboration between Theatre and Humanities courses, and we argue that the theatre methodology of "devising" can serve as a particularly rich locus for collaboration between Theatre students and other…

  10. Understanding Teacher Collaboration Processes from a Complexity Theory Perspective: A Case Study of a Chinese Secondary School

    ERIC Educational Resources Information Center

    Yuan, Rui; Zhang, Jia; Yu, Shulin

    2018-01-01

    Although research on teacher collaboration has proliferated in the last few decades, scant attention has been paid to the development of teacher collaboration in school contexts. Informed by the perspective of complexity theory, this study investigates the complex process of teacher collaboration through qualitative interviews in an English…

  11. The Integration of a Three-Year-Long Intercultural Collaborative Project into a Foreign Language Classroom for the Development of Intercultural Competence

    ERIC Educational Resources Information Center

    Hirotani, Maki; Fujii, Kiyomi

    2015-01-01

    Many studies on intercultural communication introduced how their collaborative projects were conducted. There are also several studies that discuss how intercultural collaborative activities can be integrated into a foreign language curriculum, as well as a big project (the INTENT project) that helps teachers integrate collaborative activities…

  12. Teacher Educators' Collaboration in Subject Departments: Collaborative Activities and Social Relations

    ERIC Educational Resources Information Center

    Heldens, Henderijn; Bakx, Anouke; den Brok, Perry

    2015-01-01

    Teacher educators' collaboration plays an important role in the improvement of teacher education. Many studies in educational research focus on collaboration from 1 particular perspective. A focus on 2 perspectives, a qualitative (focusing on collaborative activities) as well as a quantitative (focusing on relations) perspective, and relating both…

  13. Training for Collaboration: Collaborative Practice Skills for Mental Health Professionals

    ERIC Educational Resources Information Center

    Bischoff, Richard J.; Springer, Paul R.; Reisbig, Allison M. J.; Lyons, Sheena; Likcani, Adriatik

    2012-01-01

    The purpose of the study was to identify skills that mental health practitioners need for successful collaborative practice in medical settings. Known experts in the field of collaborative health care completed a survey designed to elicit their suggestions about what is needed for successful collaborative care practice. Through qualitative…

  14. Exploring nurses' perceptions of organizational factors of collaborative relationships.

    PubMed

    Smith, Kevin; Lavoie-Tremblay, Melanie; Richer, Marie-Claire; Lanctot, Suzanne

    2010-01-01

    Collaborative relationships are influenced by the context of the organization in which health professionals work. There is limited knowledge concerning the influence that organizational factors have on this process. A descriptive study design using semistructured interviews was used to explore nurses' perceptions of the organizational factors that influence the development of collaborative relationships in health care teams. Eight nurses from a university-affiliated teaching hospital in Montreal participated in this study. Nurses described a variety of experiences where effective collaboration took place. One common theme emerged from the participants: Being Available for Collaboration. Nurses perceived that 2 particular organizational factors-time and workday scheduling-influenced the development of collaborative relationships. This study supports the need for health care managers to promote and invest in alternative means of communication technology and to structure clinical care environments to help promote the development of collaborative relationships within health care teams.

  15. Younger and older adults' collaborative recall of shared and unshared emotional pictures.

    PubMed

    Barber, Sarah J; Castrellon, Jaime J; Opitz, Philipp; Mather, Mara

    2017-07-01

    Although a group of people working together recalls more items than any one individual, they recall fewer unique items than the same number of people working apart whose responses are combined. This is known as collaborative inhibition, and it is a robust effect that occurs for both younger and older adults. However, almost all previous studies documenting collaborative inhibition have used stimuli that were neutral in emotional valence, low in arousal, and studied by all group members. In the current experiments, we tested the impact of picture-stimuli valence, picture-stimuli arousal, and information distribution in modulating the magnitude of collaborative inhibition. We included both younger and older adults because there are age differences in how people remember emotional pictures that could modulate any effects of emotion on collaborative inhibition. Results revealed that when information was shared (i.e., studied by all group members), there were robust collaborative inhibition effects for both neutral and emotional stimuli for both younger and older adults. However, when information was unshared (i.e., studied by only a single group member), these effects were attenuated. Together, these results provide mixed support for the retrieval strategy disruption account of collaborative inhibition. Supporting the retrieval strategy disruption account, unshared study information was less susceptible to collaborative inhibition than shared study information. Contradicting the retrieval strategy disruption account, emotional valence and arousal did not modulate the magnitude of collaborative inhibition despite the fact that participants clustered the emotional, but not neutral, information together in memory.

  16. Concept of Collaboration from the Islamic Perspective: The View Points for Health Providers.

    PubMed

    Irajpour, Alireza; Ghaljaei, Fereshteh; Alavi, Mousa

    2015-10-01

    Collaboration involves direct and open communication and respect for different perspectives. In particular, religious literature has many references to collaboration. This study is a report of knowledge synthesis based on qualitative systematic review by content analysis. The study surveys the concept of collaboration from the Islamic point of view and intends to answer the question, 'Does the Quran deal with the use of collaboration in human activities?' This study was conducted using electronic documents from websites related to Islamic and Quran sciences, such as Howzah.net, Nashriat.ir, Tebyan.net and Google Scholar from 1950 until 2013 by focusing on the keywords, collaboration and Islam, and then retrieving the Islamic document (Quran and Hadith). The language in which the search was conducted was English and Persian. Nearly, 28 articles and 72 books related to this topic were found and after applying the search criteria, only 13% of the references were found to be applicable. In the Quran, collaboration is equivalent to Taavon, and Muslims are requested to collaborate in their affairs and never collaborate with each other for illegal affairs. Islam asserts that everyone requires social relationship in their life. God has enacted mutual rights for people and meeting these requirements is only possible through collaboration and respecting mutual rights.

  17. Using the prisms of gender and rank to interpret research collaboration power dynamics.

    PubMed

    Gaughan, Monica; Bozeman, Barry

    2016-08-01

    Collaboration is central to modern scientific inquiry, and increasingly important to the professional experiences of academic scientists. While the effects of collaboration have been widely studied, much less is understood about the motivations to collaborate and collaboration dynamics that generate scientific outcomes. A particular interest of this study is to understand how collaboration experiences differ between women and men, and the attributions used to explain these differences. We use a multi-method study of university Science, Technology, Engineering, and Mathematics faculty research collaborators. We employ 177 anonymous open-ended responses to a web-based survey, and 60 semi-structured interviews of academic scientists in US research universities. We find similarities and differences in collaborative activity between men and women. Open-ended qualitative textual analysis suggests that some of these differences are attributed to power dynamics - both general ones related to differences in organizational status, and in power dynamics related specifically to gender. In analysis of semi-structured interviews, we find that both status and gender were used as interpretive frames for collaborative behavior, with more emphasis placed on status than gender differences. Overall, the findings support that gender structures some part of the collaborative experience, but that status hierarchy exerts more clear effects.

  18. The Roles of a University Professor in a Teacher Study Group

    ERIC Educational Resources Information Center

    Yeh, Hui-Chin; Hung, Hsiu-Ting; Chen, Yi-Ping

    2012-01-01

    The opportunities in which university professors collaborate with the practicing school teachers in a teacher study group are few. This study investigated how a university professor facilitated a collaborative teacher study group to enhance teachers' professional growth. Five primary school teachers and a university professor collaborated on…

  19. Visualization analysis of author collaborations in schizophrenia research.

    PubMed

    Wu, Ying; Duan, Zhiguang

    2015-02-19

    Schizophrenia is a serious mental illness that levies a heavy medical toll and cost burden throughout the world. Scientific collaborations are necessary for progress in psychiatric research. However, there have been few publications on scientific collaborations in schizophrenia. The aim of this study was to investigate the extent of author collaborations in schizophrenia research. This study used 58,107 records on schizophrenia from 2003 to 2012 which were downloaded from Science Citation Index Expanded (SCI Expanded) via Web of Science. CiteSpace III, an information visualization and analysis software, was used to make a visual analysis. Collaborative author networks within the field of schizophrenia were determined using published documents. We found that external author collaboration networks were more scattered while potential author collaboration networks were more compact. Results from hierarchical clustering analysis showed that the main collaborative field was genetic research in schizophrenia. Based on the results, authors belonging to different institutions and in different countries should be encouraged to collaborate in schizophrenia research. This will help researchers focus their studies on key issues, and allow each other to offer reasonable suggestions for making polices and providing scientific evidence to effectively diagnose, prevent, and cure schizophrenia.

  20. Reverse Engineering and Software Products Reuse to Teach Collaborative Web Portals: A Case Study with Final-Year Computer Science Students

    ERIC Educational Resources Information Center

    Medina-Dominguez, Fuensanta; Sanchez-Segura, Maria-Isabel; Mora-Soto, Arturo; Amescua, Antonio

    2010-01-01

    The development of collaborative Web applications does not follow a software engineering methodology. This is because when university students study Web applications in general, and collaborative Web portals in particular, they are not being trained in the use of software engineering techniques to develop collaborative Web portals. This paper…

  1. Authorship, collaboration, and funding trends in implantology literature: analysis of five journals from 2005 to 2009.

    PubMed

    Barão, Valentim Adelino Ricardo; Shyamsunder, Nodesh; Yuan, Judy Chia-Chun; Lee, Damian J; Assunção, Wirley Gonçalves; Sukotjo, Cortino

    2011-02-01

    To identify the trend of authorship in dental implant by exploring the prevalence of coauthored articles and to investigate the collaboration efforts, trends in funding involved in original articles, and their relationships. Articles published in the Clinical Oral Implants Research, International Journal of Oral & Maxillofacial Implants, Clinical Implant Dentistry and Related Research, Implant Dentistry, and Journal of Oral Implantology from 2005 to 2009 were reviewed. Nonoriginal articles were excluded. For each included articles, number of authors, collaboration efforts, and extramural funding were recorded. Descriptive and analytical statistics (α = 0.05), including logistic regression analysis and χ² test, were used. From a total of 2085 articles, 1503 met the inclusion criteria. Publications with 5 or more authors increased over time (P = 0.813). The amount of collaboration among different disciplines, institutions, and countries all increased. The greatest increase of collaboration was seen among institutions (P = 0.09). Nonfunding studies decreased over time (P = 0.031). There was a strong association between collaboration and funding for the manuscripts during the years studied (OR, 1.5). The number of authors per articles and collaborative studies increased over time in implant-related journals. Collaborative studies were more likely to be funded.

  2. Perceptions of Collaborative Process in a Professional Learning Focused University-Community-School Collaboration

    ERIC Educational Resources Information Center

    Psimas, Lynnae L.

    2012-01-01

    The current study explored the collaborative processes present in a collaboration between an urban university in the Southeast United States, a state-funded educational support agency, and several urban and suburban school districts served by the state agency. To obtain a comprehensive understanding of the collaboration and relevant practices,…

  3. Use of an Interculturally Enriched Collaboration Script in Computer-Supported Collaborative Learning in Higher Education

    ERIC Educational Resources Information Center

    Popov, Vitaliy; Biemans, Harm J. A.; Kuznetsov, Andrei N.; Mulder, Martin

    2014-01-01

    In this exploratory study, the authors introduced an interculturally enriched collaboration script (IECS) for working in culturally diverse groups within a computer-supported collaborative learning (CSCL) environment and then assessed student online collaborative behaviour, learning performance and experiences. The question was if and how these…

  4. "You Should Collaborate, Children": A Study of Teachers' Design and Facilitation of Children's Collaboration around Touchscreens

    ERIC Educational Resources Information Center

    Davidsen, Jacob; Vanderlinde, Ruben

    2016-01-01

    Touchscreens are being integrated into classrooms to support collaborative learning, yet little empirical evidence has been presented regarding how children collaborate using touchscreens in classrooms. In particular, minimal research has been directed towards how teachers can design for and guide children's touchscreen-based collaboration.…

  5. Revealing the Intricate Effect of Collaboration on Innovation

    PubMed Central

    Inoue, Hiroyasu; Liu, Yang-Yu

    2015-01-01

    We studied the Japan and U.S. patent records of several decades to demonstrate the effect of collaboration on innovation. We found that statistically inventor teams slightly outperform solo inventors while company teams perform equally well as solo companies. By tracking the performance record of individual teams, we found that inventor teams’ performance generally degrades with more repeat collaborations. Though company teams’ performance displays strongly bursty behavior, long-term collaboration does not significantly help innovation. To systematically study the effect of repeat collaboration, we defined the repeat collaboration number of a team as the average number of collaborations over all the teammate pairs. We found that mild repeat collaboration improves the performance of Japanese inventor teams and U.S. company teams. Yet, excessive repeat collaboration does not significantly help innovation at both the inventor and company levels in both countries. To control for unobserved heterogeneity, we performed a detailed regression analysis and the results were consistent with our simple observations. The presented results revealed the intricate effect of collaboration on innovation, which may also be observed in other creative projects. PMID:25799138

  6. Revealing the intricate effect of collaboration on innovation.

    PubMed

    Inoue, Hiroyasu; Liu, Yang-Yu

    2015-01-01

    We studied the Japan and U.S. patent records of several decades to demonstrate the effect of collaboration on innovation. We found that statistically inventor teams slightly outperform solo inventors while company teams perform equally well as solo companies. By tracking the performance record of individual teams, we found that inventor teams' performance generally degrades with more repeat collaborations. Though company teams' performance displays strongly bursty behavior, long-term collaboration does not significantly help innovation. To systematically study the effect of repeat collaboration, we defined the repeat collaboration number of a team as the average number of collaborations over all the teammate pairs. We found that mild repeat collaboration improves the performance of Japanese inventor teams and U.S. company teams. Yet, excessive repeat collaboration does not significantly help innovation at both the inventor and company levels in both countries. To control for unobserved heterogeneity, we performed a detailed regression analysis and the results were consistent with our simple observations. The presented results revealed the intricate effect of collaboration on innovation, which may also be observed in other creative projects.

  7. Interprofessional collaborative reasoning by residents and nurses in internal medicine: Evidence from a simulation study.

    PubMed

    Blondon, K S; Maître, F; Muller-Juge, V; Bochatay, N; Cullati, S; Hudelson, P; Vu, N V; Savoldelli, G L; Nendaz, M R

    2017-04-01

    Clinical reasoning has been studied in residents or nurses, using interviews or patient-provider encounters. Despite a growing interest in interprofessional collaboration, the notion of collaborative reasoning has not been well studied in clinical settings. Our study aims at exploring resident-nurse collaborative reasoning in a simulation setting. We enrolled 14 resident-nurse teams from a general internal medicine division in a mixed methods study. Teams each managed one of four acute case scenarios, followed by a stimulated-recall session. A qualitative, inductive analysis of the transcripts identified five dimensions of collaborative reasoning: diagnostic reasoning, patient management, patient monitoring, communication with the patient, and team communication. Three investigators (two senior physicians, one nurse) assessed individual and team performances using a five-point Likert scale, and further extracted elements supporting the collaborative reasoning process. Global assessment of the resident-nurse team was not simply an average of individual performances. Qualitative results underlined the need to improve situational awareness, particularly for task overload. Team communication helped team members stay abreast of each other's thoughts and improve their efficiency. Residents and nurses differed in their reasoning processes, and awareness of this difference may contribute to improving interprofessional collaboration. Understanding collaborative reasoning can provide an additional dimension to interprofessional education.

  8. The opportunity to collaborate increases preschoolers' motivation for challenging tasks.

    PubMed

    Butler, Lucas P; Walton, Gregory M

    2013-12-01

    Collaborating on challenging endeavors is a foundation of human society. Recent research suggests that young children are not only motivated to cooperate with others-for instance, to help others accomplish their goals-but may also be motivated to collaborate with others-to pursue shared goals. However, a primary reason why collaboration is so important is because opportunities to collaborate can bring people together to work hard to overcome challenges. Two studies (N=70) tested whether the collaborative nature of an activity itself can cause preschoolers to enjoy challenging tasks more and to persist longer on them. To isolate the psychological feeling of collaboration, we tested this hypothesis by manipulating purely psychological cues of collaboration; in all cases, children worked while physically alone. Both studies found that such cues substantially increased preschoolers' motivation on a challenging puzzle, including their persistence on and liking for the puzzle, relative to two non-collaborative control conditions. We suggest that an early emerging drive to engage in shared collaborative activities leads children to find collaborative activities to be intrinsically motivating. This may represent an important basis of motivation as children embark on formal schooling. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Barriers and facilitators to intraorganizational collaboration in public health: Relational coordination across public health services targeting individuals and populations.

    PubMed

    McCullough, J Mac; Eisen-Cohen, Eileen; Lott, Breanne

    2018-05-09

    Modern public health emphasizes population-focused services, which may require collaborative work both across and within organizations. Studies have explored interorganizational collaborations, but there are little data regarding collaborations within public health organizations. We measured intraorganizational collaboration and identified barriers and facilitators to collaboration within a large public health department through a mixed-methods study. Our study occurred at the Maricopa County (Arizona) Department of Public Health, the third largest local public health jurisdiction in the United States. To measure collaboration, we surveyed staff using the relational coordination tool. To identify barriers and facilitators to collaboration, we performed key informant interviews with department personnel. Relational coordination scores varied according to the focus of the service; clinical services had significantly lower levels of relational coordination than population-focused services (p < .01). We found high levels of mutual respect and lower levels of shared knowledge across services. Facilitators to collaboration included purposive cross-program meetings around specific topics, the organization's structure and culture, and individuals' social identities. Barriers included raised expectations for collaboration, low slack resources, member's self-interest, and trust. The relational coordination of services varied significantly according to the focus of the service. Population-focused public health services had higher levels of relational coordination than individually focused services. Collaboration was facilitated and impeded by both well-known and potentially emergent factors, such as purposive cross-service meetings and organizational culture. Population-focused services possessed higher levels of collaboration than individually focused services. Intraorganizational collaboration for improved population health relies on deliberate support from senior management and structured activities to increase shared knowledge and mutual respect.

  10. Collaboration in health technology assessment (EUnetHTA joint action, 2010-2012): four case studies.

    PubMed

    Huić, Mirjana; Nachtnebel, Anna; Zechmeister, Ingrid; Pasternak, Iris; Wild, Claudia

    2013-07-01

    The aim of this study was to present the first four collaborative health technology assessment (HTA) processes on health technologies of different types and life cycles targeted toward diverse HTA users and facilitators, as well as the barriers of these collaborations. Retrospective analysis, through four case studies, was performed on the first four collaboration experiences of agencies participating in the EUnetHTA Joint Action project (2010-12), comprising different types and life cycles of health technologies for a diverse target audience, and different types of collaboration. The methods used to initiate collaboration, partner contributions, the assessment methodology, report structure, time frame, and factors acting as possible barriers to and facilitators of this collaboration were described. Two ways were used to initiate collaboration in the first four collaborative HTA processes: active brokering of information, so-called "calls for collaboration," and individual contact between agencies after identifying a topic common to two agencies in the Planned and Ongoing Projects database. Several success factors are recognized: predefined project management, high degree of commitment to the project; adherence to timelines; high relevance of technology; a common understanding of the methods applied and advanced experience in HTA; finally, acceptance of English-written reports by decision makers in non-English-speaking countries. Barriers like late identification of collaborative partners, nonacceptance of English language and different methodology of assessment should be overcome. Timely and efficient, different collaborative HTA processes on relative efficacy/effectiveness and safety on different types and life cycles of health technologies, targeted toward diverse HTA users in Europe are possible. There are still barriers to overcome.

  11. A Collaborative Inquiry to Promote Pedagogical Knowledge of Mathematics in Practice

    ERIC Educational Resources Information Center

    Moghaddam, Alireza; Sarkar Arani, Mohammad Reza; Kuno, Hiroyuki

    2015-01-01

    The present study attempts to report a collaborative cycle of professional development in teaching elementary school mathematics through lesson study. It explores a practice of lesson study conducted by teachers aiming to improve their knowledge of pedagogy. The study adopts an ethnographic approach to examine how collaborative teaching within an…

  12. Experiences of nurse practitioners and medical practitioners working in collaborative practice models in primary healthcare in Australia - a multiple case study using mixed methods.

    PubMed

    Schadewaldt, Verena; McInnes, Elizabeth; Hiller, Janet E; Gardner, Anne

    2016-07-29

    In 2010 policy changes were introduced to the Australian healthcare system that granted nurse practitioners access to the public health insurance scheme (Medicare) subject to a collaborative arrangement with a medical practitioner. These changes facilitated nurse practitioner practice in primary healthcare settings. This study investigated the experiences and perceptions of nurse practitioners and medical practitioners who worked together under the new policies and aimed to identify enablers of collaborative practice models. A multiple case study of five primary healthcare sites was undertaken, applying mixed methods research. Six nurse practitioners, 13 medical practitioners and three practice managers participated in the study. Data were collected through direct observations, documents and semi-structured interviews as well as questionnaires including validated scales to measure the level of collaboration, satisfaction with collaboration and beliefs in the benefits of collaboration. Thematic analysis was undertaken for qualitative data from interviews, observations and documents, followed by deductive analysis whereby thematic categories were compared to two theoretical models of collaboration. Questionnaire responses were summarised using descriptive statistics. Using the scale measurements, nurse practitioners and medical practitioners reported high levels of collaboration, were highly satisfied with their collaborative relationship and strongly believed that collaboration benefited the patient. The three themes developed from qualitative data showed a more complex and nuanced picture: 1) Structures such as government policy requirements and local infrastructure disadvantaged nurse practitioners financially and professionally in collaborative practice models; 2) Participants experienced the influence and consequences of individual role enactment through the co-existence of overlapping, complementary, traditional and emerging roles, which blurred perceptions of legal liability and reimbursement for shared patient care; 3) Nurse practitioners' and medical practitioners' adjustment to new routines and facilitating the collaborative work relied on the willingness and personal commitment of individuals. Findings of this study suggest that the willingness of practitioners and their individual relationships partially overcame the effect of system restrictions. However, strategic support from healthcare reform decision-makers is needed to strengthen nurse practitioner positions and ensure the sustainability of collaborative practice models in primary healthcare.

  13. CavityPlus: a web server for protein cavity detection with pharmacophore modelling, allosteric site identification and covalent ligand binding ability prediction.

    PubMed

    Xu, Youjun; Wang, Shiwei; Hu, Qiwan; Gao, Shuaishi; Ma, Xiaomin; Zhang, Weilin; Shen, Yihang; Chen, Fangjin; Lai, Luhua; Pei, Jianfeng

    2018-05-10

    CavityPlus is a web server that offers protein cavity detection and various functional analyses. Using protein three-dimensional structural information as the input, CavityPlus applies CAVITY to detect potential binding sites on the surface of a given protein structure and rank them based on ligandability and druggability scores. These potential binding sites can be further analysed using three submodules, CavPharmer, CorrSite, and CovCys. CavPharmer uses a receptor-based pharmacophore modelling program, Pocket, to automatically extract pharmacophore features within cavities. CorrSite identifies potential allosteric ligand-binding sites based on motion correlation analyses between cavities. CovCys automatically detects druggable cysteine residues, which is especially useful to identify novel binding sites for designing covalent allosteric ligands. Overall, CavityPlus provides an integrated platform for analysing comprehensive properties of protein binding cavities. Such analyses are useful for many aspects of drug design and discovery, including target selection and identification, virtual screening, de novo drug design, and allosteric and covalent-binding drug design. The CavityPlus web server is freely available at http://repharma.pku.edu.cn/cavityplus or http://www.pkumdl.cn/cavityplus.

  14. CCQM-K86/P113.1: Relative quantification of genomic DNA fragments extracted from a biological tissue

    NASA Astrophysics Data System (ADS)

    Corbisier, P.; Vincent, S.; Schimmel, H.; Kortekaas, A.-M.; Trapmann, S.; Burns, M.; Bushell, C.; Akgoz, M.; Akyürek, S.; Dong, L.; Fu, B.; Zhang, L.; Wang, J.; Pérez Urquiza, M.; Bautista, J. L.; Garibay, A.; Fuller, B.; Baoutina, A.; Partis, L.; Emslie, K.; Holden, M.; Chum, W. Y.; Kim, H.-H.; Phunbua, N.; Milavec, M.; Zel, J.; Vonsky, M.; Konopelko, L. A.; Lau, T. L. T.; Yang, B.; Hui, M. H. K.; Yu, A. C. H.; Viroonudomphol, D.; Prawettongsopon, C.; Wiangnon, K.; Takabatake, R.; Kitta, K.; Kawaharasaki, M.; Parkes, H.

    2012-01-01

    Key comparison CCQM-K86 was performed to demonstrate and document the capacity of interested national metrology institutes (NMIs) and designated institutes (DIs) in the determination of the relative quantity of two specific genomic DNA fragments present in a biological tissue. The study provides the support for the following measurement claim: "Quantification of the ratio of the number of copies of specified intact sequence fragments of a length in the range of 70 to 100 nucleotides in a single genomic DNA extract from ground maize seed materials". The study was carried out under the auspices of the Bioanalysis Working Group (BAWG) of the Comité Consultatif pour la Quantité de Matière (CCQM) and was piloted by the Institute for Reference Materials and Methods (IRMM) in Geel (Belgium). The following laboratories (in alphabetical order) participated in this key comparison: AIST (Japan), CENAM (Mexico), DMSc (Thailand), GLHK (Hong Kong), IRMM (European Union), KRISS (Republic of Korea), LGC (United Kingdom), MIRS/NIB (Slovenia), NIM (PR China), NIST (USA), NMIA (Australia), TÜBITAK UME (Turkey) and VNIIM (Russian Federation). The following laboratories (in alphabetical order) participated in a pilot study that was organized in parallel: LGC (United Kingdom), PKU (PR China), NFRI (Japan) and NIMT (Thailand). Good agreement was observed between the reported results of eleven participants. Main text. To reach the main text of this paper, click on Final Report. Note that this text is that which appears in Appendix B of the BIPM key comparison database kcdb.bipm.org/. The final report has been peer-reviewed and approved for publication by the CCQM, according to the provisions of the CIPM Mutual Recognition Arrangement (MRA).

  15. It's All About Communication: A Mixed-Methods Approach to Collaboration Between Volunteers and Staff in Pediatric Palliative Care.

    PubMed

    Meyer, Dorothee; Schmidt, Pia; Zernikow, Boris; Wager, Julia

    2018-01-01

    Multidisciplinary teamwork is considered central to pediatric palliative care. Although different studies state that volunteers play an essential role in palliative care, little is known about the collaboration between volunteers and staff. This study aims to explore and compare the perspectives of volunteers and staff regarding collaboration in a pediatric palliative care unit. A mixed-methods approach was chosen to appropriately reflect the complex aspects of collaboration. Both face-to-face interviews with staff who work together with volunteers and a group discussion with all volunteers were conducted. These were supplemented by 2 questionnaires designed for this study that examined participants' characteristics and their estimation of what information volunteers need before they meet a patient. Nine staff members and 7 volunteers participated in this study. Their ideas of collaboration could be grouped into 3 categories: (i) factual level of collaboration, (ii) relationship level of collaboration, and (iii) overall appraisal of collaboration (suggestions for improvement). Communication can be considered a key factor in successful collaboration between volunteers and staff. Because many patients in pediatric palliative care units are not able to communicate verbally, good information flow between volunteers and staff is crucial for ensuring quality patient care. Moreover, communication is the key to establishing a team philosophy by clarifying roles and building relationships between volunteers and staff.

  16. CCLasso: correlation inference for compositional data through Lasso.

    PubMed

    Fang, Huaying; Huang, Chengcheng; Zhao, Hongyu; Deng, Minghua

    2015-10-01

    Direct analysis of microbial communities in the environment and human body has become more convenient and reliable owing to the advancements of high-throughput sequencing techniques for 16S rRNA gene profiling. Inferring the correlation relationship among members of microbial communities is of fundamental importance for genomic survey study. Traditional Pearson correlation analysis treating the observed data as absolute abundances of the microbes may lead to spurious results because the data only represent relative abundances. Special care and appropriate methods are required prior to correlation analysis for these compositional data. In this article, we first discuss the correlation definition of latent variables for compositional data. We then propose a novel method called CCLasso based on least squares with [Formula: see text] penalty to infer the correlation network for latent variables of compositional data from metagenomic data. An effective alternating direction algorithm from augmented Lagrangian method is used to solve the optimization problem. The simulation results show that CCLasso outperforms existing methods, e.g. SparCC, in edge recovery for compositional data. It also compares well with SparCC in estimating correlation network of microbe species from the Human Microbiome Project. CCLasso is open source and freely available from https://github.com/huayingfang/CCLasso under GNU LGPL v3. dengmh@pku.edu.cn Supplementary data are available at Bioinformatics online. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  17. Aspartame intolerance.

    PubMed

    Garriga, M M; Metcalfe, D D

    1988-12-01

    Aspartame is a food additive marketed under the brand name Nutrasweet. Aspartame is a white, odorless, crystalline powder and consists of two amino acids, L-aspartic acid and L-phenylalanine. It is 180 times as sweet as sugar. The Food and Drug Administration (FDA) first allowed its use in dry foods in July 1981 and then approved its use in carbonated beverages in July 1983. It has subsequently been approved for use in a number of materials including multivitamins, fruit juices, stick-type confections, breath mints, and iced tea. The FDA requires the statement "phenylketonurics: contains phenylalanine" on labels of food products containing aspartame because individuals with phenylketonuria (PKU) must restrict their intake of phenylalanine. Aspartame is judged to be free of long-term cancer risks. Aspartame is not stable under certain conditions including baking and cooking, and prolonged exposure to acid conditions. In such situations it loses its sweetness. Products formed from aspartame include its component amino acids (phenylalanine and aspartic acid), methanol, and diketopiperazine (DKP). Animal studies show DKP to be nontoxic. Methanol occurs in small amounts and does not exceed that formed during consumption of many foods including fresh fruits and vegetables. FDA's Center for Food Safety and Applied Nutrition (CFSAN) monitors aspartame's safety in part through reports of adverse reactions. After aspartame was approved for use in carbonated beverages, the FDA received an increased number of reports concerning adverse reactions related to aspartame. The Centers for Disease Control (CDC) reviewed these reports, which included complaints of neurologic, gastrointestinal, andallergic reactions.(ABSTRACT TRUNCATED AT 250 WORDS)

  18. A Case Study of a Collaborative Speech-Language Pathologist

    ERIC Educational Resources Information Center

    Ritzman, Mitzi J.; Sanger, Dixie; Coufal, Kathy L.

    2006-01-01

    This study explored how a school-based speech-language pathologist implemented a classroom-based service delivery model that focused on collaborative practices in classroom settings. The study used ethnographic observations and interviews with 1 speech-language pathologist to provide insights into how she implemented collaborative consultation and…

  19. Problem Finding in Professional Learning Communities: A Learning Study Approach

    ERIC Educational Resources Information Center

    Tan, Yuen Sze Michelle; Caleon, Imelda Santos

    2016-01-01

    This study marries collaborative problem solving and learning study in understanding the onset of a cycle of teacher professional development process within school-based professional learning communities (PLCs). It aimed to explore how a PLC carried out collaborative problem finding--a key process involved in collaborative problem solving--that…

  20. Building Collaborative Research Opportunities into Study Abroad Programs: A Case Study from Panama

    ERIC Educational Resources Information Center

    Solís, Patricia; Price, Marie; Adames de Newbill, María

    2015-01-01

    As universities increase their international study opportunities, enormous potential exists to create geography field courses that provide undergraduates and graduate students with primary research experience and intercultural collaboration. This paper draws from our experience leading a two-week collaborative field course in Panama. We outline…

  1. Students' Activity in Computer-Supported Collaborative Problem Solving in Mathematics

    ERIC Educational Resources Information Center

    Hurme, Tarja-riitta; Jarvela, Sanna

    2005-01-01

    The purpose of this study was to analyse secondary school students' (N = 16) computer-supported collaborative mathematical problem solving. The problem addressed in the study was: What kinds of metacognitive processes appear during computer-supported collaborative learning in mathematics? Another aim of the study was to consider the applicability…

  2. Nurse-physician collaboration impacts job satisfaction and turnover among nurses: A hospital-based cross-sectional study in Beijing.

    PubMed

    Zhang, Lin; Huang, Lei; Liu, Meng; Yan, Hong; Li, Xiue

    2016-06-01

    This study aims to explore the impact of physician-nurse collaboration on nurse job satisfaction and turnover in a dental hospital. Physician-nurse collaboration is important for the stability of the entire nursing team. Few studies have shown the impact on job satisfaction and turnover among nurses working in Chinese dental hospitals. This was a prospective, cross-sectional study and investigated nurses from a tertiary dental hospital in Beijing using convenience non-randomized sampling. A structured questionnaire was used to collect data, which included general information, the Index of Work Satisfaction, the Nurse-Physician Collaboration Scale and the Turnover Intention Scale. The scores of physician-nurse collaboration correlated positively with those for job satisfaction and negatively with the stated likelihood of turnover intention. Physician-nurse collaboration scores positively predicted job satisfaction and negatively predicted the likelihood of quitting the current job. In conclusion, improving the level of physician-nurse collaboration is helpful to enhance job satisfaction and reduce turnover among nurses in a dental hospital. © 2016 John Wiley & Sons Australia, Ltd.

  3. Social Network Analysis of Biomedical Research Collaboration Networks in a CTSA Institution

    PubMed Central

    Bian, Jiang; Xie, Mengjun; Topaloglu, Umit; Hudson, Teresa; Eswaran, Hari; Hogan, William

    2014-01-01

    BACKGROUND The popularity of social networks has triggered a number of research efforts on network analyses of research collaborations in the Clinical and Translational Science Award (CTSA) community. Those studies mainly focus on the general understanding of collaboration networks by measuring common network metrics. More fundamental questions about collaborations still remain unanswered such as recognizing “influential” nodes and identifying potential new collaborations that are most rewarding. METHODS We analyzed biomedical research collaboration networks (RCNs) constructed from a dataset of research grants collected at a CTSA institution (i.e. University of Arkansas for Medical Sciences (UAMS)) in a comprehensive and systematic manner. First, our analysis covers the full spectrum of a RCN study: from network modeling to network characteristics measurement, from key nodes recognition to potential links (collaborations) suggestion. Second, our analysis employs non-conventional model and techniques including a weighted network model for representing collaboration strength, rank aggregation for detecting important nodes, and Random Walk with Restart (RWR) for suggesting new research collaborations. RESULTS By applying our models and techniques to RCNs at UAMS prior to and after the CTSA, we have gained valuable insights that not only reveal the temporal evolution of the network dynamics but also assess the effectiveness of the CTSA and its impact on a research institution. We find that collaboration networks at UAMS are not scale-free but small-world. Quantitative measures have been obtained to evident that the RCNs at UAMS are moving towards favoring multidisciplinary research. Moreover, our link prediction model creates the basis of collaboration recommendations with an impressive accuracy (AUC: 0.990, MAP@3: 1.48 and MAP@5: 1.522). Last but not least, an open-source visual analytical tool for RCNs is being developed and released through Github. CONCLUSIONS Through this study, we have developed a set of techniques and tools for analyzing research collaboration networks and conducted a comprehensive case study focusing on a CTSA institution. Our findings demonstrate the promising future of these techniques and tools in understanding the generative mechanisms of research collaborations and helping identify beneficial collaborations to members in the research community. PMID:24560679

  4. The motivations, institutions and organization of university-industry collaborations in the Netherlands.

    PubMed

    Bodas Freitas, Isabel Maria; Verspagen, Bart

    2017-01-01

    This study builds on the economics and organization literatures to explore whether and how institutions and organizational structure complement or substitute each other to create specific spaces of alignment where specific individual actors' motivations co-exist. Focusing on university-industry collaborations, the study examines whether and how different axes of alignment of university and industry motivations are integrated in projects with specific technological objectives and organizational structures, benefitting from the presence of specific institutions designed to facilitate collaboration. Empirically, the study relies on in-depth data on 30 university-industry collaborations in the Netherlands, and provides preliminary evidence that the technological objective and organizational structure of collaboration are malleable variables allowing the integration of both partners' objectives and expectations. Different institutional incentives for university-industry collaboration favor specific axes of alignment of motivations and certain types of collaborative projects' design. Hence, our exploratory results suggest that specific organizational and technological structures tend to prevail in the presence of specific institutions.

  5. Measurement and evaluation practices of factors that contribute to effective health promotion collaboration functioning: A scoping review.

    PubMed

    Stolp, Sean; Bottorff, Joan L; Seaton, Cherisse L; Jones-Bricker, Margaret; Oliffe, John L; Johnson, Steven T; Errey, Sally; Medhurst, Kerensa; Lamont, Sonia

    2017-04-01

    The purpose of this scoping review was to identify promising factors that underpin effective health promotion collaborations, measurement approaches, and evaluation practices. Measurement approaches and evaluation practices employed in 14 English-language articles published between January 2001 and October 2015 were considered. Data extraction included research design, health focus of the collaboration, factors being evaluated, how factors were conceptualized and measured, and outcome measures. Studies were methodologically diverse employing either quantitative methods (n=9), mixed methods (n=4), or qualitative methods (n=1). In total, these 14 studies examined 113 factors, 88 of which were only measured once. Leadership was the most commonly studied factor but was conceptualized differently across studies. Six factors were significantly associated with outcome measures across studies; leadership (n=3), gender (n=2), trust (n=2), length of the collaboration (n=2), budget (n=2) and changes in organizational model (n=2). Since factors were often conceptualized differently, drawing conclusions about their impact on collaborative functioning remains difficult. The use of reliable and validated tools would strengthen evaluation of health promotion collaborations and would support and enhance the effectiveness of collaboration. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  6. Collaborative Behavioral Management for Drug-Involved Parolees: Rationale and Design of the Step'n Out Study

    ERIC Educational Resources Information Center

    Friedmann, Peter D.; Katz, Elizabeth C.; Rhodes, Anne G.; Taxman, Faye S.; O'Connell, Daniel J.; Frisman, Linda K.; Burdon, William M.; Fletcher, Bennett W.; Litt, Mark D.; Clarke, Jennifer; Martin, Steven S.

    2008-01-01

    This article describes the rationale, study design, and implementation for the Step'n Out study of the Criminal Justice Drug Abuse Treatment Studies. Step'n Out tests the relative effectiveness of collaborative behavioral management of drug-involved parolees. Collaborative behavioral management integrates the roles of parole officers and treatment…

  7. Midwife-physician collaboration: a conceptual framework for interprofessional collaborative practice.

    PubMed

    Smith, Denise Colter

    2015-01-01

    Since the passage of the Affordable Care Act, collaborative practice has been cited as one method of increasing access to care, decreasing costs, and improving efficiency. How and under what conditions might these goals be achieved? Midwives and physicians have built effective collaborative practice models over a period of 30 years. Empirical study of interprofessional collaboration between midwives and physicians could be useful in guiding professional education, regulation, and health policy in women's health and maternity care. Construction of a conceptual framework for interprofessional collaboration between midwives and physicians was guided by a review of the literature. A theory derivation strategy was used to define dimensions, concepts, and statements of the framework. Midwife-physician interprofessional collaboration can be defined by 4 dimensions (organizational, procedural, relational, and contextual) and 12 concepts (trust, shared power, synergy, commitment, and respect, among others). The constructed framework provides the foundation for further empirical study of the interprofessional collaborative process. The experiences of midwife-physician collaborations provide solid support for a conceptual framework of the collaborative process. A conceptual framework provides a point from which further research can increase knowledge and understanding about how successful outcomes are achieved in collaborative health care practices. Construction of a measurement scale and validation of the model are important next steps. © 2014 by the American College of Nurse-Midwives.

  8. Dynamic analysis of interhospital collaboration and competition: empirical evidence from an Italian regional health system.

    PubMed

    Mascia, Daniele; Di Vincenzo, Fausto; Cicchetti, Americo

    2012-05-01

    Policymakers stimulate competition in universalistic health-care systems while encouraging the formation of service provision networks among hospital organizations. This article addresses a gap in the extant literature by empirically analyzing simultaneous collaboration and competition between hospitals within the Italian National Health Service, where important procompetition reforms have been implemented. To explore how rising competition between hospitals relates to their propensity to collaborate with other local providers. Longitudinal data on interhospital collaboration and competition collected in an Italian region from 2003 to 2007 are analyzed. Social network analysis techniques are applied to study the structure and dynamics of interhospital collaboration. Negative binomial regressions are employed to explore how interhospital competition relates to the collaborative network over time. Competition among providers does not hinder interhospital collaboration. Collaboration is primarily local, with resource complementarity and differentials in the volume of activity and hospital performance explaining the propensity to collaborate. Formation of collaborative networks among hospitals is not hampered by reforms aimed at fostering market forces. Because procompetition reforms elicit peculiar forms of managed competition in universalistic health systems, studies are needed to clarify whether the positive association between interhospital competition and collaboration can be generalized to other health-care settings. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  9. Supporting awareness through collaborative brushing and linking of tabular data.

    PubMed

    Hajizadeh, Amir Hossein; Tory, Melanie; Leung, Rock

    2013-12-01

    Maintaining an awareness of collaborators' actions is critical during collaborative work, including during collaborative visualization activities. Particularly when collaborators are located at a distance, it is important to know what everyone is working on in order to avoid duplication of effort, share relevant results in a timely manner and build upon each other's results. Can a person's brushing actions provide an indication of their queries and interests in a data set? Can these actions be revealed to a collaborator without substantially disrupting their own independent work? We designed a study to answer these questions in the context of distributed collaborative visualization of tabular data. Participants in our study worked independently to answer questions about a tabular data set, while simultaneously viewing brushing actions of a fictitious collaborator, shown directly within a shared workspace. We compared three methods of presenting the collaborator's actions: brushing & linking (i.e. highlighting exactly what the collaborator would see), selection (i.e. showing only a selected item), and persistent selection (i.e. showing only selected items but having them persist for some time). Our results demonstrated that persistent selection enabled some awareness of the collaborator's activities while causing minimal interference with independent work. Other techniques were less effective at providing awareness, and brushing & linking caused substantial interference. These findings suggest promise for the idea of exploiting natural brushing actions to provide awareness in collaborative work.

  10. Engineering and Language Discourse Collaboration: Practice Realities

    ERIC Educational Resources Information Center

    Harran, Marcelle

    2011-01-01

    This article describes a situated engineering project at a South African HE institution which is underpinned by collaboration between Applied Language Studies (DALS) and Mechanical Engineering. The collaboration requires language practitioners and engineering experts to negotiate and collaborate on academic literacies practices, discourse…

  11. Communication, Collaboration, and Enhancing the Learning Experience: Developing a Collaborative Virtual Enquiry Service in University Libraries in the North of England

    ERIC Educational Resources Information Center

    Jolly, Liz; White, Sue

    2016-01-01

    This article uses the case study of developing a collaborative "out-of-hours" virtual enquiry service by members of the Northern Collaboration Group of academic libraries in the north of England to explore the importance of communication and collaboration between academic library services in enhancing student learning. Set within the…

  12. Case study on perspicacity of collaborative learning experiences

    NASA Astrophysics Data System (ADS)

    Abdullah, Fadzidah; Majid, Noor Hanita Abdul; Numen, Ibrahim; Kesuma Azmin, Aida; Abd. Rahim, Zaiton; Denan, Zuraini; Emin Sisman, Muhammet

    2017-12-01

    In the attempt to relate to the architectural practice, architectural education today has augmented the development of collaborative learning environment in the campus scenario. Presently, collaborative work among students from the same program and university is considered common. Hence, attempts of collaboration is extended into having learning and teaching collaboration by means of inter-universities. The School of Architecture, at the International Islamic University Malaysia (IIUM) has explored into having collaboration across the continent with Fatih Sultan Mehmet Waqf University (FSMWU), among faculty members and students of the two (2) universities This paper explicates the empirical study on students’ perspicacity of their collaborative learning experiences; in term of effectiveness, generative behaviour, and teamwork. Survey with three (3) open-ended questions are distributed to students to express their opinions on learning collaboration that they have had during the execution of the Joint Summer School Program (JSSP). Feedback on their perspicacity is obtained and organised into numerical and understandable data display, using qualitative data processing software. Albeit the relevancy of collaborative learning, students gave both positive and negative feedbacks on their experiences. Suggestions are given to enhance the quality of collaborative learning experience for future development

  13. Computational approaches for predicting biomedical research collaborations.

    PubMed

    Zhang, Qing; Yu, Hong

    2014-01-01

    Biomedical research is increasingly collaborative, and successful collaborations often produce high impact work. Computational approaches can be developed for automatically predicting biomedical research collaborations. Previous works of collaboration prediction mainly explored the topological structures of research collaboration networks, leaving out rich semantic information from the publications themselves. In this paper, we propose supervised machine learning approaches to predict research collaborations in the biomedical field. We explored both the semantic features extracted from author research interest profile and the author network topological features. We found that the most informative semantic features for author collaborations are related to research interest, including similarity of out-citing citations, similarity of abstracts. Of the four supervised machine learning models (naïve Bayes, naïve Bayes multinomial, SVMs, and logistic regression), the best performing model is logistic regression with an ROC ranging from 0.766 to 0.980 on different datasets. To our knowledge we are the first to study in depth how research interest and productivities can be used for collaboration prediction. Our approach is computationally efficient, scalable and yet simple to implement. The datasets of this study are available at https://github.com/qingzhanggithub/medline-collaboration-datasets.

  14. How social network analysis can be used to monitor online collaborative learning and guide an informed intervention

    PubMed Central

    Fors, Uno; Tedre, Matti; Nouri, Jalal

    2018-01-01

    To ensure online collaborative learning meets the intended pedagogical goals (is actually collaborative and stimulates learning), mechanisms are needed for monitoring the efficiency of online collaboration. Various studies have indicated that social network analysis can be particularly effective in studying students’ interactions in online collaboration. However, research in education has only focused on the theoretical potential of using SNA, not on the actual benefits they achieved. This study investigated how social network analysis can be used to monitor online collaborative learning, find aspects in need of improvement, guide an informed intervention, and assess the efficacy of intervention using an experimental, observational repeated-measurement design in three courses over a full-term duration. Using a combination of SNA-based visual and quantitative analysis, we monitored three SNA constructs for each participant: the level of interactivity, the role, and position in information exchange, and the role played by each participant in the collaboration. On the group level, we monitored interactivity and group cohesion indicators. Our monitoring uncovered a non-collaborative teacher-centered pattern of interactions in the three studied courses as well as very few interactions among students, limited information exchange or negotiation, and very limited student networks dominated by the teacher. An intervention based on SNA-generated insights was designed. The intervention was structured into five actions: increasing awareness, promoting collaboration, improving the content, preparing teachers, and finally practicing with feedback. Evaluation of the intervention revealed that it has significantly enhanced student-student interactions and teacher-student interactions, as well as produced a collaborative pattern of interactions among most students and teachers. Since efficient and communicative activities are essential prerequisites for successful content discussion and for realizing the goals of collaboration, we suggest that our SNA-based approach will positively affect teaching and learning in many educational domains. Our study offers a proof-of-concept of what SNA can add to the current tools for monitoring and supporting teaching and learning in higher education. PMID:29566058

  15. How social network analysis can be used to monitor online collaborative learning and guide an informed intervention.

    PubMed

    Saqr, Mohammed; Fors, Uno; Tedre, Matti; Nouri, Jalal

    2018-01-01

    To ensure online collaborative learning meets the intended pedagogical goals (is actually collaborative and stimulates learning), mechanisms are needed for monitoring the efficiency of online collaboration. Various studies have indicated that social network analysis can be particularly effective in studying students' interactions in online collaboration. However, research in education has only focused on the theoretical potential of using SNA, not on the actual benefits they achieved. This study investigated how social network analysis can be used to monitor online collaborative learning, find aspects in need of improvement, guide an informed intervention, and assess the efficacy of intervention using an experimental, observational repeated-measurement design in three courses over a full-term duration. Using a combination of SNA-based visual and quantitative analysis, we monitored three SNA constructs for each participant: the level of interactivity, the role, and position in information exchange, and the role played by each participant in the collaboration. On the group level, we monitored interactivity and group cohesion indicators. Our monitoring uncovered a non-collaborative teacher-centered pattern of interactions in the three studied courses as well as very few interactions among students, limited information exchange or negotiation, and very limited student networks dominated by the teacher. An intervention based on SNA-generated insights was designed. The intervention was structured into five actions: increasing awareness, promoting collaboration, improving the content, preparing teachers, and finally practicing with feedback. Evaluation of the intervention revealed that it has significantly enhanced student-student interactions and teacher-student interactions, as well as produced a collaborative pattern of interactions among most students and teachers. Since efficient and communicative activities are essential prerequisites for successful content discussion and for realizing the goals of collaboration, we suggest that our SNA-based approach will positively affect teaching and learning in many educational domains. Our study offers a proof-of-concept of what SNA can add to the current tools for monitoring and supporting teaching and learning in higher education.

  16. The early evolution of southwestern Pennsylvania's regional math/science collaborative from the leadership perspective

    NASA Astrophysics Data System (ADS)

    Bunt, Nancy R.

    Designed as a regional approach to the coordination of efforts and focusing of resources in fragmented southwestern Pennsylvania, the Collaborative's story is narrated by its founding director. Drawing from office archives, including letters of invitation, meeting notes, and participant evaluations of each event, the study describes the genesis of the Collaborative. It begins with identification of the problem and the resulting charge by a founding congress. It details the building of an organizational framework, the creation of a shared vision, the development of a blueprint for action, and the decision-making involved in determining how to strengthen mathematics and science education in the region. The study notes several influences on the Collaborative's leadership. Considering the role of other collaboratives, the study notes that knowledge of the Los Angeles Educational Partnership's LA SMART jump-started the Collaborative's initial planning process. Knowledge of San Francisco's SEABA influenced the size and naming of the Collaborative's Journal. Fred Newmann's definition of authentic instruction, learning and assessment are reflected in the shared vision and belief statements of the Collaborative. The five disciplines of Peter Senge influenced the nature of the organizational framework as well as the day-to-day operations of the Collaborative. The study also notes that the five organizational tensions identified in Ann Lieberman's work on "intentional learning communities" were present in every aspect of the evolution of the Collaborative. The study suggests that leaders of evolving collaboratives: (1) engage all relevant stakeholders in assessing the current situation and defining a desired future state, (2) take advantage of the lessons learned by others and the resources available at the state and national levels to design strategies and build action plans, (3) model the practices to be inspired in the learning community, (4) constantly gather feedback on process and content--and act on the recommendations as soon as possible, and (5) keep the focus of efforts on achieving the desired future--and measure progress toward it.

  17. Trajectories of collaborative scientific conceptual change: Middle school students learning about ecosystems in a CSCL environment

    NASA Astrophysics Data System (ADS)

    Liu, Lei

    The dissertation aims to achieve two goals. First, it attempts to establish a new theoretical framework---the collaborative scientific conceptual change model, which explicitly attends to social factor and epistemic practices of science, to understand conceptual change. Second, it report the findings of a classroom study to investigate how to apply this theoretical framework to examine the trajectories of collaborative scientific conceptual change in a CSCL environment and provide pedagogical implications. Two simulations were designed to help students make connections between the macroscopic substances and the aperceptual microscopic entities and underlying processes. The reported study was focused on analyzing the aggregated data from all participants and the video and audio data from twenty focal groups' collaborative activities and the process of their conceptual development in two classroom settings. Mixed quantitative and qualitative analyses were applied to analyze the video/audio data. The results found that, overall participants showed significant improvements from pretest to posttest on system understanding. Group and teacher effect as well as group variability were detected in both students' posttest performance and their collaborative activities, and variability emerged in group interaction. Multiple data analyses found that attributes of collaborative discourse and epistemic practices made a difference in student learning. Generating warranted claims in discourse as well as the predicting, coordinating theory-evidence, and modifying knowledge in epistemic practices had an impact on student's conceptual understanding. However, modifying knowledge was found negatively related to students' learning effect. The case studies show how groups differed in using the computer tools as a medium to conduct collaborative discourse and epistemic practices. Only with certain combination of discourse features and epistemic practices can the group interaction lead to successful convergent understanding. The results of the study imply that the collaborative scientific conceptual change model is an effective framework to study conceptual change and the simulation environment may mediate the development of successful collaborative interactions (including collaborative discourse and epistemic practices) that lead to collaborative scientific conceptual change.

  18. Promoting research and audit at medical school: evaluating the educational impact of participation in a student-led national collaborative study.

    PubMed

    Chapman, Stephen J; Glasbey, James C D; Khatri, Chetan; Kelly, Michael; Nepogodiev, Dmitri; Bhangu, Aneel; Fitzgerald, J Edward F

    2015-03-13

    Medical students often struggle to engage in extra-curricular research and audit. The Student Audit and Research in Surgery (STARSurg) network is a novel student-led, national research collaborative. Student collaborators contribute data to national, clinical studies while gaining an understanding of audit and research methodology and ethical principles. This study aimed to evaluate the educational impact of participation. Participation in the national, clinical project was supported with training interventions, including an academic training day, an online e-learning module, weekly discussion forums and YouTube® educational videos. A non-mandatory, online questionnaire assessed collaborators' self-reported confidence in performing key academic skills and their perceptions of audit and research prior to and following participation. The group completed its first national clinical study ("STARSurgUK") with 273 student collaborators across 109 hospital centres. Ninety-seven paired pre- and post-study participation responses (35.5%) were received (male = 51.5%; median age = 23). Participation led to increased confidence in key academic domains including: communication with local research governance bodies (p < 0.001), approaching clinical staff to initiate local collaboration (p < 0.001), data collection in a clinical setting (p < 0.001) and presentation of scientific results (p < 0.013). Collaborators also reported an increased appreciation of research, audit and study design (p < 0.001). Engagement with the STARSurg network empowered students to participate in a national clinical study, which increased their confidence and appreciation of academic principles and skills. Encouraging active participation in collaborative, student-led, national studies offers a novel approach for delivering essential academic training.

  19. Collaboration and patient safety at an emergency department - a qualitative case study.

    PubMed

    Pedersen, Anna Helene Meldgaard; Rasmussen, Kurt; Grytnes, Regine; Nielsen, Kent Jacob

    2018-03-19

    Purpose The purpose of this paper is to examine how conflicts about collaboration between staff at different departments arose during the establishment of a new emergency department and how these conflicts affected the daily work and ultimately patient safety at the emergency department. Design/methodology/approach This qualitative single case study draws on qualitative semi-structured interviews and participant observation. The theoretical concepts "availability" and "receptiveness" as antecedents for collaboration will be applied in the analysis. Findings Close collaboration between departments was an essential precondition for the functioning of the new emergency department. The study shows how a lack of antecedents for collaboration affected the working relation and communication between employees and departments, which spurred negative feelings and reproduced conflicts. This situation was seen as a potential threat for the safety of the emergency patients. Research limitations/implications This study presents a single case study, at a specific point in time, and should be used as an illustrative example of how contextual and situational factors affect the working environment and through that patient safety. Originality/value Few studies provide an in-depth investigation of what actually takes place when collaboration between professional groups goes wrong and escalates, and how problems in collaboration may affect patient safety.

  20. Interpersonal Conflict in Collaborative Writing: What We Can Learn from Gender Studies.

    ERIC Educational Resources Information Center

    Lay, Mary M.

    1989-01-01

    Discusses how gender studies reveal psychological and cultural sources of interpersonal conflict during collaboration. Notes that an awareness of these conflict sources enables scholars and teachers in technical communication to predict and ease interpersonal conflict among collaborators. (MM)

  1. Collaborative Research: The Alphabetic Braille and Contracted Braille Study as an Example of Collaborative Research

    ERIC Educational Resources Information Center

    Wormsley, Diane P.; Emerson, Robert Wall; Erin, Jane

    2011-01-01

    This article examines the Alphabetic Braille Contracted Braille Study in relation to the dimensions of collaborative research: extent, intensity, substance, heterogeneity, velocity, formality, and productivity. It also discusses the dimensions of financing research and researchers' attitudes. The overall consensus is that the study would not have…

  2. The Efficacy of Collaborative Strategic Reading in Middle School Science and Social Studies Classes

    ERIC Educational Resources Information Center

    Boardman, Alison G.; Klingner, Janette K.; Buckley, Pamela; Annamma, Subini; Lasser, Cristin J.

    2015-01-01

    This study investigated the efficacy of a multi-component reading comprehension instructional approach, Collaborative Strategic Reading (CSR), compared to business-as-usual instructional methods with 19 teachers and 1074 students in middle school social studies and science classrooms in a large urban district. Researchers collaborated with school…

  3. Are Online Learners Frustrated with Collaborative Learning Experiences?

    ERIC Educational Resources Information Center

    Capdeferro, Neus; Romero, Margarida

    2012-01-01

    Online education increasingly puts emphasis on collaborative learning methods. Despite the pedagogical advantages of collaborative learning, online learners can perceive collaborative learning activities as frustrating experiences. The purpose of this study was to characterize the feelings of frustration as a negative emotion among online learners…

  4. Adaptation in Collaborative Governance Regimes

    NASA Astrophysics Data System (ADS)

    Emerson, Kirk; Gerlak, Andrea K.

    2014-10-01

    Adaptation and the adaptive capacity of human and environmental systems have been of central concern to natural and social science scholars, many of whom characterize and promote the need for collaborative cross-boundary systems that are seen as flexible and adaptive by definition. Researchers who study collaborative governance systems in the public administration, planning and policy literature have paid less attention to adaptive capacity specifically and institutional adaptation in general. This paper bridges the two literatures and finds four common dimensions of capacity, including structural arrangements, leadership, knowledge and learning, and resources. In this paper, we focus on institutional adaptation in the context of collaborative governance regimes and try to clarify and distinguish collaborative capacity from adaptive capacity and their contributions to adaptive action. We posit further that collaborative capacities generate associated adaptive capacities thereby enabling institutional adaptation within collaborative governance regimes. We develop these distinctions and linkages between collaborative and adaptive capacities with the help of an illustrative case study in watershed management within the National Estuary Program.

  5. Creating Mechanisms for Meaningful Collaboration Between Members of Urban Communities and University-Based HIV Prevention Researchers.

    PubMed

    McKay, Mary M; Hibbert, Richard; Lawrence, Rita; Miranda, Ana; Paikoff, Roberta; Bell, Carl C; Madison-Boyd, Sybil; Baptiste, Donna; Coleman, Doris; Pinto, Rogério M; Bannon, William M

    2007-01-01

    This article provides a description of a Community/University Collaborative Board, a formalized partnership between representatives from an inner-city community and university-based researchers. This Collaborative Board oversees a number of research projects focused on designing, delivering and testing family-based HIV prevention and mental health focused programs to elementary and junior high school age youth and their families. The Collaborative Board consists of urban parents, school staff members, representatives from community-based agencies and university-based researchers. One research project, the CHAMP (Collaborative HIV prevention and Adolescent Mental health Project) Family Program Study, an urban, family-based HIV prevention project will be used to illustrate how the Collaborative Board oversees a community-based research study. The process of establishing a Collaborative Board, recruiting members and developing subcommittees is described within this article. Examples of specific issues addressed by the Collaborative Board within its subcommittees, Implementation, Finance, Welcome, Research, Grant writing, Curriculum, and Leadership, are detailed in this article along with lessons learned.

  6. Collaborative Behavioral Management for Drug-Involved Parolees: Rationale and Design of the Step'n Out Study

    PubMed Central

    FRIEDMANN, PETER D.; KATZ, ELIZABETH C.; RHODES, ANNE G.; TAXMAN, FAYE S.; O'CONNELL, DANIEL J.; FRISMAN, LINDA K.; BURDON, WILLIAM M.; FLETCHER, BENNETT W.; LITT, MARK D.; CLARKE, JENNIFER; MARTIN, STEVEN S.

    2009-01-01

    This article describes the rationale, study design, and implementation for the Step'n Out study of the Criminal Justice Drug Abuse Treatment Studies. Step'n Out tests the relative effectiveness of collaborative behavioral management of drug-involved parolees. Collaborative behavioral management integrates the roles of parole officers and treatment counselors to provide role induction counseling, contract for pro-social behavior, and deliver contingent reinforcement of behaviors consistent with treatment objectives. The Step'n Out study will randomize 450 drug-involved parolees to collaborative behavioral management or usual parole. Follow-up at 3-and 9-months will assess primary outcomes of rearrest, crime and drug use. If collaborative behavioral management is effective, its wider adoption could improve the outcomes of community reentry of drug-involved ex-offenders. PMID:19809591

  7. A Framework for Implementing Virtual Collaborative Networks - Case Study on Automobile Components Production Industry

    NASA Astrophysics Data System (ADS)

    Parvinnia, Elham; Khayami, Raouf; Ziarati, Koorush

    Virtual collaborative networks are composed of small companies which take most advantage from the market opportunity and are able to compete with large companies. So some frameworks have been introduced for implementing this type of collaboration; although none of them has been standardized completely. In this paper we specify some instances that need to be standardized for implementing virtual enterprises. Then, a framework is suggested for implementing virtual collaborative networks. Finally, based on that suggestion, as a case study, we design a virtual collaborative network in automobile components production industry.

  8. Incorporating collaboratory concepts into informatics in support of translational interdisciplinary biomedical research

    PubMed Central

    Lee, E. Sally; McDonald, David W.; Anderson, Nicholas; Tarczy-Hornoch, Peter

    2008-01-01

    Due to its complex nature, modern biomedical research has become increasingly interdisciplinary and collaborative in nature. Although a necessity, interdisciplinary biomedical collaboration is difficult. There is, however, a growing body of literature on the study and fostering of collaboration in fields such as computer supported cooperative work (CSCW) and information science (IS). These studies of collaboration provide insight into how to potentially alleviate the difficulties of interdisciplinary collaborative research. We, therefore, undertook a cross cutting study of science and engineering collaboratories to identify emergent themes. We review many relevant collaboratory concepts: (a) general collaboratory concepts across many domains: communication, common workspace and coordination, and data sharing and management, (b) specific collaboratory concepts of particular biomedical relevance: data integration and analysis, security structure, metadata and data provenance, and interoperability and data standards, (c) environmental factors that support collaboratories: administrative and management structure, technical support, and available funding as critical environmental factors, and (d) future considerations for biomedical collaboration: appropriate training and long-term planning. In our opinion, the collaboratory concepts we discuss can guide planning and design of future collaborative infrastructure by biomedical informatics researchers to alleviate some of the difficulties of interdisciplinary biomedical collaboration. PMID:18706852

  9. Evidence for the impact of quality improvement collaboratives: systematic review

    PubMed Central

    2008-01-01

    Objective To evaluate the effectiveness of quality improvement collaboratives in improving the quality of care. Data sources Relevant studies through Medline, Embase, PsycINFO, CINAHL, and Cochrane databases. Study selection Two reviewers independently extracted data on topics, participants, setting, study design, and outcomes. Data synthesis Of 1104 articles identified, 72 were included in the study. Twelve reports representing nine studies (including two randomised controlled trials) used a controlled design to measure the effects of the quality improvement collaborative intervention on care processes or outcomes of care. Systematic review of these nine studies showed moderate positive results. Seven studies (including one randomised controlled trial) reported an effect on some of the selected outcome measures. Two studies (including one randomised controlled trial) did not show any significant effect. Conclusions The evidence underlying quality improvement collaboratives is positive but limited and the effects cannot be predicted with great certainty. Considering that quality improvement collaboratives seem to play a key part in current strategies focused on accelerating improvement, but may have only modest effects on outcomes at best, further knowledge of the basic components effectiveness, cost effectiveness, and success factors is crucial to determine the value of quality improvement collaboratives. PMID:18577559

  10. Art of collaboration: a conflict of disciplines or constructive relationship

    NASA Astrophysics Data System (ADS)

    Pepper, Andrew T.; Krantz, Eric P.

    1995-02-01

    The concept of collaborations between artists and scientists, working with holography, is explored. A background and history to such collaborations is given and two case studies are detailed: one from a pioneering artist in the field who organized very early collaborations with scientists and engineers, the second from a more recent collaboration between the authors of this paper. A description of the authors' collaboration is given and details of a single exposure color mixing technique for rainbow `shadow' holograms is specified. The description of the making of a collaborative hologram, using this system, is provided.

  11. Improving collaboration between large and small-medium enterprises in automobile production

    NASA Astrophysics Data System (ADS)

    Sung, Soyoung; Kim, Yanghoon; Chang, Hangbae

    2018-01-01

    Inter-organisational collaboration is important for achieving qualitative and quantitative performance improvement in the global competitive environment. In particular, the extent of collaboration between the mother company and its suppliers is important for the profitability and sustainability of a company in the automobile industry, which is carried out using a customisation and order production system. As a result of the empirical analysis in this study, the collaborative information sharing cycle is shortened and the collaborative information sharing scope is widened. Therefore, the level of collaboration is improved by constructing an IT collaboration system.

  12. Fostering Multimedia Learning with Collaborative Concept Mapping: The Effect of Cognitive Aid on Performance and on Collaboration

    ERIC Educational Resources Information Center

    Acuña, Santiago Roger; Aymes, Gabriela López; Medrano, Carlos Sergio López

    2014-01-01

    This paper analyzes the use of collaborative concept maps in multimedia learning tasks. Specifically, the effect of a cognitive aid (providing students a list of main concepts to generate a concept map) on the performance of collaborative concept mapping and on the level of collaboration in this task is discussed. The study was carried out with 57…

  13. Effects of Perceived Risks, Reputation and Electronic Word of Mouth (E-WOM) on Collaborative Consumption of Uber Car Sharing Service

    NASA Astrophysics Data System (ADS)

    Wati Hawapi, Mega; Sulaiman, Zuraidah; Kohar, Umar Haiyat Abdul; Abu Talib, Noraini

    2017-06-01

    Current transition from traditional economic model of selling and buying to sharing economic business creates a huge impact on consumers’ preferences to participate in collaborative consumption. The market entrance of sharing economic business is relatively new, thus it builds scepticism among consumers. Consumers’ trust becomes the most crucial aspect in determining their willingness to participate in collaborative consumption. This study will reveal the effects of perceived risks (performance and social), reputation and Electronic Word-of Mouth (E-WOM) on Malaysian consumers’ intention of collaborative consumption, especially for Uber car sharing service. This study inspires to enrich the literature for collaborative consumption and perceived risk theory. From the practical perspective, this study may provide insights in assisting the collaborative consumption service providers especially Uber car users on factors influencing the intention to engage in such service.

  14. Messy Collaboration: Learning from a Learning Study

    ERIC Educational Resources Information Center

    Adamson, Bob; Walker, Elizabeth

    2011-01-01

    Messy collaboration refers to complexity, unpredictability and management dilemmas when educators work together. Such messiness was evident in a Hong Kong English Learning Study, a structured cyclical process in which teachers and researcher-participants from a teacher education institution work collaboratively on effective student learning. This…

  15. Effects of repeated collaborative retrieval on individual memory vary as a function of recall versus recognition tasks.

    PubMed

    Blumen, Helena M; Rajaram, Suparna

    2009-11-01

    Our research examines how prior group collaboration modulates later individual memory. We recently showed that repeated collaborative recall sessions benefit later individual recall more than a single collaborative recall session (Blumen & Rajaram, 2008). Current research compared the effects of repeated collaborative recall and repeated collaborative recognition on later individual recall and later individual recognition. A total of 192 participants studied a list of nouns and then completed three successive retrieval sessions in one of four conditions. While two collaborative recall sessions and two collaborative recognition sessions generated comparable levels of individual recall (CRecall-CRecall-I Recall approximately CRecognition-CRecognition-I Recall , Experiment 1a), two collaborative recognition sessions generated greater levels of individual recognition than two collaborative recall sessions (CRecognition-CRecognition- IRecognition > CRecall-CRecall- I Recognition , Experiment 1b). These findings are discussed in terms of two opposing mechanisms that operate during collaborative retrieval-re-exposure and retrieval disruption-and in terms of transfer-appropriate processing across collaborative and individual retrieval sessions.

  16. Attitude and awareness of medical and dental students towards collaboration between medical and dental practice in Hong Kong.

    PubMed

    Zhang, Shinan; Lo, Edward C M; Chu, Chun-Hung

    2015-05-02

    Medical-dental collaboration is essential for improving resource efficiency and standards of care. However, few studies have been conducted on it. This study aimed to investigate the attitude and awareness of medical and dental students about collaboration between medical and dental practices in Hong Kong. All medical and dental students in Hong Kong were invited to complete a questionnaire survey at their universities, hospitals and residential halls. It contained 8 questions designed to elicit their attitudes about the collaboration between medical and dental practice. Students were also asked about their awareness of the collaboration between dentistry and medicine. The questionnaires were directly distributed to medical and dental students. The finished questionnaires were immediately collected by research assistants on site. A total of 1,857 questionnaires were distributed and 809 (44%) were returned. Their mean attitude score (SD) towards medical-dental collaboration was 6.37 (1.44). Most students (77%) were aware of the collaboration between medical and dental practice in Hong Kong. They considered that Ear, Nose & Throat, General Surgery and Family Medicine were the 3 most common medical disciplines which entailed collaboration between medical and dental practice. In this study, the medical and dental students in general demonstrated a good attitude and awareness of the collaboration between medical and dental practice in Hong Kong. This established an essential foundation for fostering medical-dental collaboration, which is vital to improving resource efficiency and standards of care.

  17. Three Case Studies on Business Collaboration and Process Management

    ERIC Educational Resources Information Center

    Fan, Shaokun

    2012-01-01

    The importance of collaboration has been recognized for more than 2000 years. While recent improvement in technology creates vast opportunities for collaboration, effective collaboration remains challenging as ad hoc teams work across time, geographical, language, and technical boundaries, and suffer from process inefficiency. My dissertation…

  18. Understanding Nomadic Collaborative Learning Groups

    ERIC Educational Resources Information Center

    Ryberg, Thomas; Davidsen, Jacob; Hodgson, Vivien

    2018-01-01

    The paper builds on the work of Rossitto "et al." on collaborative nomadic work to develop three categories of practice of nomadic collaborative learning groups. Our study is based on interviews, workshops and observations of two undergraduate student's group practices engaged in self-organised, long-term collaborations within the frame…

  19. Community-Level Collaboration for Substance Abuse Prevention.

    ERIC Educational Resources Information Center

    Stevenson, John F.; Mitchell, Roger E.

    2003-01-01

    Reviews the literature on the roles of community-wide collaboration in substance abuse prevention. Three broad strategies through which collaboration may have its effects are identified. Alternative theories of effects, means of measurement, and results and conclusions from studies of collaborative interventions for prevention are discussed.…

  20. Undergraduate Students' Perceptions of Collaborative Learning in a Differential Equations Mathematics Course

    ERIC Educational Resources Information Center

    Hajra, Sayonita Ghosh; Das, Ujjaini

    2015-01-01

    This paper uses collaborative learning strategies to examine students' perceptions in a differential equations mathematics course. Students' perceptions were analyzed using three collaborative learning strategies including collaborative activity, group-quiz and online discussion. The study results show that students identified both strengths and…

  1. Leadership Training for Collaboration. Draft.

    ERIC Educational Resources Information Center

    Kagan, Sharon L.

    Based in part on a 1992 study of 72 United States early care collaborations and leaders, this paper explores conventional understandings of leadership, reviews the leadership literature, and goes on to compare and discuss collaborative leadership in detail. The paper notes that collaborative leadership stresses the relatedness of systems wherein…

  2. The Impact of Collaborative Reflections on Teachers' Inquiry Teaching

    ERIC Educational Resources Information Center

    Lin, Huann-shyang; Hong, Zuway-R.; Yang, Kuay-keng; Lee, Sung-Tao

    2013-01-01

    This study investigates the impact of collaborative reflections on teachers' inquiry teaching practices and identifies supportive actions relating to their professional development. Three science teachers in the same elementary school worked as a cooperative and collaborative group. They attended workshops and worked collaboratively through…

  3. Reported experiences from occupational therapists interacting with teachers in inclusive early childhood classrooms.

    PubMed

    Bose, Pia; Hinojosa, Jim

    2008-01-01

    This grounded theory study described the perspectives of school-based occupational therapists working in inclusive early childhood classrooms emphasizing interactions with teaching staff. Six therapists were interviewed multiple times over several months. The participants viewed their interactions with teaching staff as challenging but potentially rewarding experiences. Viewing collaboration as valuable, their descriptions nonetheless generally omitted many collaborative features, with therapists often assigned the role of "expert." Data analysis revealed four major themes: (1) "It's Not Like I Don't Value Collaboration" (the benefits of collaboration); (2) "Collaboration--I Can't Do It Alone" (the challenges of interactions); (3) "My Opinion, Please Ask for It" (attachment to the expert status), and (4) "Is This Collaboration?" (interactions in practice). The results of this study suggest that current recommendations for collaboration for inclusion in school-based occupational therapy are not optimally implemented in all practice settings.

  4. Critical success factors for mutual collaboration with suppliers in IT outsourcing industry: a case study of a top IT outsourcing company in Korea

    NASA Astrophysics Data System (ADS)

    Cha, Kyung-Jin; Kim, Yang Sok

    2018-01-01

    Nowadays, information technology (IT) outsourcing companies face enduring demands to reduce cost while increasing productivity. This pressure leads many IT outsourcing companies to rely on outsourcing arrangements with IT personnel suppliers. In order to maximise efficiency, outsourcing companies have focused on fostering high-performing suppliers through improved collaboration and mutual relations. However, it is very difficult to advance to a long-term partnership using the existing outsourcing process because of insufficient collaboration between IT outsourcing companies and their suppliers. Based on collaboration perspective of supply chain management (SCM), this study identifies the critical success factors for collaborative strategic partnerships and presents an evaluation framework for assessing and managing suppliers. We have developed an organisational process model for Supplier relationship management (SRM)-based collaboration which includes some of the key constructs from the previous studies and interviews with the IT outsourcing industry people. In this study, we will identify four types of strategic suppliers and suggest approaches for improving collaborative relationship between an IT outsourcing company and its partner companies. In addition, to validate the feasibility of the proposed model, we applied it to a well-known Korean IT outsourcing company 'A'.

  5. Hospital-based health technology assessment (HTA) in Finland: a case study on collaboration between hospitals and the national HTA unit.

    PubMed

    Halmesmäki, Esa; Pasternack, Iris; Roine, Risto

    2016-04-05

    This study examines, as a part of the European Union funded Adopting Hospital Based Health Technology Assessment (AdHopHTA) project, the results and barriers of collaboration between Finnish hospitals and the national health technology assessment (HTA) agency, Finohta. A joint collaborative HTA program has existed since 2006 between the Finnish hospitals and the national agency. A case study method was used. Information about the collaboration between Finnish hospitals and Finohta was retrieved from interviews and publications, and categorised per theme. Hypotheses and indicators of successful collaboration were determined beforehand and reflected on the observations from the interviews and literature. Overall, 48 collaborative HTA reports have been performed during 7 years of collaboration. However, there were no clear indications that the use of HTA information or the transparency of decision-making regarding new technologies would have increased in hospitals. The managerial commitment to incorporate HTAs into the decision-making processes in hospitals was still low. The quality of the collaborative HTA reports was considered good, but their applicability in the hospital setting limited. There were differing expectations about the timing and relevance of the content. Signs of role conflict and mistrust were observed. Despite collaborative efforts to produce HTAs for hospitals, the impact of HTA information on hospital decision-making appears to remain low. The difficulties identified in this case study, such as lack of managerial commitment in hospitals, can hopefully be better addressed in the future with the guidance and tools having been developed in the AdHopHTA project. Collaboration between hospitals and national HTA agencies remains important for the efficient sharing of skills and resources.

  6. Homeland Security Collaboration: Catch Phrase or Preeminent Organizational Construct?

    DTIC Science & Technology

    2009-09-01

    collaborative effort? C. RESEARCH METHODOLOGY This research project utilized a modified case study methodology. The traditional case study method ...discussing the research method , offering smart practices and culminate with findings and recommendations. Chapter II Homeland Security Collaboration...41 Centers for Regional Excellence, “Building Models.” 16 Chapter III Research Methodology:  Modified Case Study Method is

  7. A Case Study of Organizational Collaboration in an Institution of Higher Education

    ERIC Educational Resources Information Center

    Schmaltz, Sarah Katherine Abrams

    2010-01-01

    The study, A Case Study of Organizational Collaboration in an Institution of Higher Education, is a look into what is working and what is not working inside a collaborative initiative at the University of Virginia called the Partners for Leadership in Education. The Partners for Leadership in Education is one of the longest lasting collaborations…

  8. A Study of Synchronous versus Asynchronous Collaboration in an Online Business Writing Class

    ERIC Educational Resources Information Center

    Mabrito, Mark

    2006-01-01

    A case study examined the collaborative experiences of students in an online business writing classroom. The purpose was to examine the same groups of students working on collaborative writing assignments in both a synchronous (real-time) and an asynchronous (non-real-time) discussion forum. This study focused on examining the amount, pattern, and…

  9. Achievement of Joint Perception in a Computer Supported Collaborative Learning Environment: A Case Study

    ERIC Educational Resources Information Center

    Afacan Adanir, Gulgun

    2017-01-01

    The case study focuses on the interactional mechanisms through which online collaborative teams co-construct a shared understanding of an analytical geometry problem by using dynamic geometry representations. The collaborative study consisted of an assignment on which the learners worked together in groups to solve a ship navigation problem as…

  10. A Fundamental Study for Efficient Implementaion of Online Collaborative Activities in Large-Scale Classes

    ERIC Educational Resources Information Center

    Matsuba, Ryuichi; Suzuki, Yusei; Kubota, Shin-Ichiro; Miyazaki, Makoto

    2015-01-01

    We study tactics for writing skills development through cross-disciplinary learning in online large-scale classes, and particularly are interested in implementation of online collaborative activities such as peer reviewing of writing. The goal of our study is to carry out collaborative works efficiently via online effectively in large-scale…

  11. An Examination of Tri-Level Collaboration around Student Achievement Using the Gap Analysis Approach: Central Office Leadership Factors

    ERIC Educational Resources Information Center

    Llamas, Sonia Rodarte

    2013-01-01

    Using the Gap Analysis problem-solving framework (Clark & Estes, 2008), this study examined collaboration around student achievement at the central office leadership level in the Pasadena Unified School District (PUSD). This study is one of three concurrent studies focused on collaboration around student achievement in the PUSD that include…

  12. How Exemplary Dyads Describe Their Practice of Collaborative Consultation: An Interview Study

    ERIC Educational Resources Information Center

    Levac, Michelle L.

    2004-01-01

    The purpose of this study was to understand and report how exemplary dyads describe their practice of collaborative consultation in inclusive classrooms. A dyad was made up of one resource teacher and one classroom teacher. This study discovered, through semi-structured interviews, how these educators collaborated and consulted as a team to meet…

  13. Self-Efficacy and Collaborative Learning: An Intervention Study

    ERIC Educational Resources Information Center

    Robertson, Jane

    2012-01-01

    Findings from empirical research suggest that both self-efficacy beliefs and collaborative learning may have an influence upon student academic performance. However, the phenomena of self-efficacy beliefs, collaborative learning, and academic achievement have not been studied in concert with one another. Using quantitative research methods, I…

  14. Working Together

    ERIC Educational Resources Information Center

    Sullivan, Margaret

    2010-01-01

    Students need space to gather, share ideas, talk, develop common understanding and work to create greater knowledge. This focus on collaboration has put a strain on group study spaces. Students need to collaborate spontaneously, and scheduling time in a study room is not conducive to spur-of-the-moment collaboration. At many education…

  15. A Collaboration-Mediated Exploration of Nonnative L2 Teachers' Cognition of Language Teaching Methodology

    ERIC Educational Resources Information Center

    Tajeddin, Zia; Aryaeian, Nafeeseh

    2017-01-01

    The present study sought to investigate nonnative L2 teachers' cognition of teaching methodology based on their collaborative talks. Participants were 12 nonnative EFL teachers categorized into three collaborative discussion groups by their teaching experience. Collaborative discussions were aimed at exploring the participants' cognition of…

  16. Physician Trainee Collaborative Competency after Exposure to Interprofessional Education: A Quasi-Experimental Study

    ERIC Educational Resources Information Center

    Porter, Lori A.

    2016-01-01

    Interprofessional education (IPE) for health care students may be one approach to improving health care outcomes by increasing collaboration among health professionals. However, the influence that IPE experiences are having on collaborative competency is unknown. Collaboration competency is crucial for physician trainees because they will practice…

  17. Evaluation of a Research Experiences for Undergraduates Program in ChE Indicates Benefit from a Collaborative Model

    ERIC Educational Resources Information Center

    Follmer, D. Jake; Gomez, Esther; Zappe, Sarah; Kumar, Manish

    2017-01-01

    This study examined how a collaborative research environment in a structured research experience impacts undergraduate student outcomes. Students demonstrated significant gains in research skills and provided positive appraisals of their collaborative experiences. Emphasis on collaboration among students in an undergraduate research program…

  18. Enabling Outcomes for Students with Developmental Disabilities through Collaborative Consultation

    ERIC Educational Resources Information Center

    Villeneuve, Michelle; Hutchinson, Nancy L.

    2012-01-01

    Collaborative consultation has been widely adopted in school-based occupational therapy practice; however, limited research has examined how collaboration between educators and occupational therapists contributes to students' outcomes. The purpose of this study was to describe the nature of collaborative working in two cases of school-based…

  19. User-Centered Design Guidelines for Collaborative Software for Intelligence Analysis

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Scholtz, Jean; Endert, Alexander

    In this position paper we discuss the necessity of using User-Centered Design (UCD) methods in order to design collaborative software for the intelligence community. We discuss a number of studies of collaboration in the intelligence community and use this information to provide some guidelines for collaboration software.

  20. Designing and Deploying 3D Collaborative Games in Education

    ERIC Educational Resources Information Center

    Mavridis, Apostolos; Tsiatsos, Thrasyvoulos; Terzidou, Theodouli

    2016-01-01

    This paper focuses on methodologies of serious games deployment and evaluation. Particularly, this study will present a specific category of serious games that are based on Collaborative Virtual Environments and they aim to support Collaborative Learning. We call these serious games Collaborative Virtual Educational Games (CVEG). The paper aims to…

  1. Exploring Metaphoric Language Use to Assess Collaboration between Educational Institutions

    ERIC Educational Resources Information Center

    Newberry, Melissa; Richardson, Michael

    2015-01-01

    In this single case study of a school and university collaborative project, positioning theory was used to deconstruct the metaphors expressed in descriptions of roles of 23 participants. Present in the metaphors were discrepancies in understandings of collaboration that revealed ways that collaboration was inhibited as participants positioned…

  2. Doing What Comes Naturally? Student Perceptions and Use of Collaborative Technologies

    ERIC Educational Resources Information Center

    Kalin, Jason

    2012-01-01

    This study investigates how students perceive and use collaborative technologies while also examining the meanings students assign to both collaboration and technology. A qualitative inductive analysis of students' assignments in a professional communication course demonstrates that students use technology to collaborate for its Accessibility,…

  3. The Measurement of Collaborative Culture in Secondary Schools: An Informal Subgroup Approach

    ERIC Educational Resources Information Center

    Meredith, Chloé; Moolenaar, Nienke M.; Struyve, Charlotte; Vandecandelaere, Machteld; Gielen, Sarah; Kyndt, Eva

    2017-01-01

    Research on teacher collaboration underlines the importance of a collaborative culture for teachers' functioning. However, while scholars usually regard collaborative culture as a school team characteristic, this study argues that subgroups may be more meaningful units of analysis to conceptualize and assess teachers' perceptions of collaborative…

  4. University Industry Collaboration and Graduates' Unemployment in Ondo State, Nigeria

    ERIC Educational Resources Information Center

    Adepoju, O. O.; Adedeji, A. O

    2015-01-01

    Research evidence shows that university industry collaboration presents a wide range of benefits to industries, higher institutions, and to the development of a nation. This study investigated the existence of university industry collaboration, the factors militating against the collaboration, and the extent to which university industry…

  5. Examining the Role of Collaborative Learning in a Public Speaking Course

    ERIC Educational Resources Information Center

    Liao, Hsiang-Ann

    2014-01-01

    Collaborative learning has been found to benefit students in various disciplines. Moreover, in the science, technology, engineering, and mathematics literature, it was noted that minority students benefited the most from collaborative learning. Studies on the effects of collaborative learning in communication are limited. As a result, I examined…

  6. Analysis of scientific collaboration in Chinese psychiatry research.

    PubMed

    Wu, Ying; Jin, Xing

    2016-05-26

    In recent decades, China has changed profoundly, becoming the country with the world's second-largest economy. The proportion of the Chinese population suffering from mental disorder has grown in parallel with the rapid economic development, as social stresses have increased. The aim of this study is to shed light on the status of collaborations in the Chinese psychiatry field, of which there is currently limited research. We sampled 16,224 publications (2003-2012) from 10 core psychiatry journals from Chinese National Knowledge Infrastructure (CNKI) and WanFang Database. We used various social network analysis (SNA) methods such as centrality analysis, and Core-Periphery analysis to study collaboration. We also used hierarchical clustering analysis in this study. From 2003-2012, there were increasing collaborations at the level of authors, institutions and regions in the Chinese psychiatry field. Geographically, these collaborations were distributed unevenly. The 100 most prolific authors and institutions and 32 regions were used to construct the collaboration map, from which we detected the core author, institution and region. Collaborative behavior was affected by economic development. We should encourage collaborative behavior in the Chinese psychiatry field, as this facilitates knowledge distribution, resource sharing and information acquisition. Collaboration has also helped the field narrow its current research focus, providing further evidence to inform policymakers to fund research in order to tackle the increase in mental disorder facing modern China.

  7. Physicians' perspectives of pharmacist-physician collaboration in the United Arab Emirates: Findings from an exploratory study.

    PubMed

    Hasan, S; Stewart, K; Chapman, C B; Kong, D C M

    2018-03-28

    Interprofessional collaborative care has been shown to improve patient outcomes. Physicians' views on collaboration with pharmacists give an insight into what contributes to a well-functioning team. Little is known about these views from low and ​middle-income countries and nothing from the United Arab Emirates (UAE). The purpose of this study is to investigate physicians' opinions on collaborative relationships with community pharmacists in the UAE. Semi-structured individual interviews and group discussions are conducted with a purposive sample of physicians. Thematic analysis based on the framework approach is used to generate themes. A total of 53 physicians participated. Three themes about collaboration emerged: perceived benefits of collaboration, facilitators of collaboration and perceived barriers to collaboration. Perceived benefits include reducing the burden on physicians, having the pharmacist as an extra safety check within the system, having the pharmacist assist patients to manage their medications: coping with side effects, reducing drug waste and costs, and attaining professional and health-system gains. Perceived facilitators included awareness and trust building, professional role definition, pharmacists' access to patient records and effective communication. Perceived barriers included patient and physician acceptance, logistic and financial issues and perceived pharmacist competence. This study has, for the first time, provided useful information to inform the future development of pharmacist-physician collaboration in the UAE and other countries with similar healthcare systems.

  8. The state of collaborative work with nurses in Israel: a mixed method study.

    PubMed

    Warshawski, Sigalit

    2016-10-01

    Effective collaboration among health professionals is associated with patient safety, quality of care and professionals' satisfaction. Nurse-physician collaboration has been a topic of substantial research worldwide. In Israel, few studies have examined this subject, but none has explored health professionals' collaborative practice with nurses, although nursing in Israel is experiencing significant professional changes. The aim of this study was to explore health professionals' attitudes toward collaboration with nurses and how these attitudes relate to their perceptions of role overlap, role clarity and feeling of threat. Research data were collected employing both quantitative and qualitative methods. A structured questionnaire was fulfilled by 262 participants, following which 12 personal interviews and 12 observations were conducted in hospital wards. Participants' attitudes toward collaboration with nurses were found statistically related to their perception of role overlap, role clarity and feeling of professional threat. Interviews and observations indicated immediate mutual assistance among professionals instead of collaborative practice. Interactions were brief and purposeful. The results highlight the absence of an organized procedure for collaborative practice with nurses. Therefore, it is necessary to act at the organization and departments, to assimilate nurses' role and the importance of collaborative practice. Nurse leaders and nurse educators must consider pragmatic and effective means to promote and articulate nurses' role in inter-professional clinical settings. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

  9. Cognitive Collaboration Found in Cardiac Physiology: Study in Classroom Environment

    PubMed Central

    Cowley, Benjamin; Torniainen, Jari; Ukkonen, Antti; Vihavainen, Arto; Puolamäki, Kai

    2016-01-01

    It is known that periods of intense social interaction result in shared patterns in collaborators’ physiological signals. However, applied quantitative research on collaboration is hindered due to scarcity of objective metrics of teamwork effectiveness. Indeed, especially in the domain of productive, ecologically-valid activity such as programming, there is a lack of evidence for the most effective, affordable and reliable measures of collaboration quality. In this study we investigate synchrony in physiological signals between collaborating computer science students performing pair-programming exercises in a class room environment. We recorded electrocardiography over the course of a 60 minute programming session, using lightweight physiological sensors. We employ correlation of heart-rate variability features to study social psychophysiological compliance of the collaborating students. We found evident physiological compliance in collaborating dyads’ heart-rate variability signals. Furthermore, dyads’ self-reported workload was associated with the physiological compliance. Our results show viability of a novel approach to field measurement using lightweight devices in an uncontrolled environment, and suggest that self-reported collaboration quality can be assessed via physiological signals. PMID:27416036

  10. The effectiveness of an integrated collaborative care model vs. a shifted outpatient collaborative care model on community functioning, residential stability, and health service use among homeless adults with mental illness: a quasi-experimental study.

    PubMed

    Stergiopoulos, Vicky; Schuler, Andrée; Nisenbaum, Rosane; deRuiter, Wayne; Guimond, Tim; Wasylenki, Donald; Hoch, Jeffrey S; Hwang, Stephen W; Rouleau, Katherine; Dewa, Carolyn

    2015-08-28

    Although a growing number of collaborative mental health care models have been developed, targeting specific populations, few studies have utilized such interventions among homeless populations. This quasi-experimental study compared the outcomes of two shelter-based collaborative mental health care models for men experiencing homelessness and mental illness: (1) an integrated multidisciplinary collaborative care (IMCC) model and (2) a less resource intensive shifted outpatient collaborative care (SOCC) model. In total 142 participants, 70 from IMCC and 72 from SOCC were enrolled and followed for 12 months. Outcome measures included community functioning, residential stability, and health service use. Multivariate regression models were used to compare study arms with respect to change in community functioning, residential stability, and health service use outcomes over time and to identify baseline demographic, clinical or homelessness variables associated with observed changes in these domains. We observed improvements in both programs over time on measures of community functioning, residential stability, hospitalizations, emergency department visits and community physician visits, with no significant differences between groups over time on these outcome measures. Our findings suggest that shelter-based collaborative mental health care models may be effective for individuals experiencing homelessness and mental illness. Future studies should seek to confirm these findings and examine the cost effectiveness of collaborative care models for this population.

  11. Understanding the drivers of interprofessional collaborative practice among HIV primary care providers and case managers in HIV care programmes.

    PubMed

    Mavronicolas, Heather A; Laraque, Fabienne; Shankar, Arti; Campbell, Claudia

    2017-05-01

    Care coordination programmes are an important aspect of HIV management whose success depends largely on HIV primary care provider (PCP) and case manager collaboration. Factors influencing collaboration among HIV PCPs and case managers remain to be studied. The study objective was to test an existing theoretical model of interprofessional collaborative practice and determine which factors play the most important role in facilitating collaboration. A self-administered, anonymous mail survey was sent to HIV PCPs and case managers in New York City. An adapted survey instrument elicited information on demographic, contextual, and perceived social exchange (trustworthiness, role specification, and relationship initiation) characteristics. The dependent variable, perceived interprofessional practice, was constructed from a validated scale. A sequential block wise regression model specifying variable entry order examined the relative importance of each group of factors and of individual variables. The analysis showed that social exchange factors were the dominant drivers of collaboration. Relationship initiation was the most important predictor of interprofessional collaboration. Additional influential factors included organisational leadership support of collaboration, practice settings, and frequency of interprofessional meetings. Addressing factors influencing collaboration among providers will help public health programmes optimally design their structural, hiring, and training strategies to foster effective social exchanges and promote collaborative working relationships.

  12. Integrated primary care, the collaboration imperative inter-organizational cooperation in the integrated primary care field: a theoretical framework

    PubMed Central

    Valentijn, Pim P; Bruijnzeels, Marc A; de Leeuw, Rob J; Schrijvers, Guus J.P

    2012-01-01

    Purpose Capacity problems and political pressures have led to a rapid change in the organization of primary care from mono disciplinary small business to complex inter-organizational relationships. It is assumed that inter-organizational collaboration is the driving force to achieve integrated (primary) care. Despite the importance of collaboration and integration of services in primary care, there is no unambiguous definition for both concepts. The purpose of this study is to examine and link the conceptualisation and validation of the terms inter-organizational collaboration and integrated primary care using a theoretical framework. Theory The theoretical framework is based on the complex collaboration process of negotiation among multiple stakeholder groups in primary care. Methods A literature review of health sciences and business databases, and targeted grey literature sources. Based on the literature review we operationalized the constructs of inter-organizational collaboration and integrated primary care in a theoretical framework. The framework is being validated in an explorative study of 80 primary care projects in the Netherlands. Results and conclusions Integrated primary care is considered as a multidimensional construct based on a continuum of integration, extending from segregation to integration. The synthesis of the current theories and concepts of inter-organizational collaboration is insufficient to deal with the complexity of collaborative issues in primary care. One coherent and integrated theoretical framework was found that could make the complex collaboration process in primary care transparent. This study presented theoretical framework is a first step to understand the patterns of successful collaboration and integration in primary care services. These patterns can give insights in the organization forms needed to create a good working integrated (primary) care system that fits the local needs of a population. Preliminary data of the patterns of collaboration and integration will be presented.

  13. Finding collaborators: toward interactive discovery tools for research network systems.

    PubMed

    Borromeo, Charles D; Schleyer, Titus K; Becich, Michael J; Hochheiser, Harry

    2014-11-04

    Research networking systems hold great promise for helping biomedical scientists identify collaborators with the expertise needed to build interdisciplinary teams. Although efforts to date have focused primarily on collecting and aggregating information, less attention has been paid to the design of end-user tools for using these collections to identify collaborators. To be effective, collaborator search tools must provide researchers with easy access to information relevant to their collaboration needs. The aim was to study user requirements and preferences for research networking system collaborator search tools and to design and evaluate a functional prototype. Paper prototypes exploring possible interface designs were presented to 18 participants in semistructured interviews aimed at eliciting collaborator search needs. Interview data were coded and analyzed to identify recurrent themes and related software requirements. Analysis results and elements from paper prototypes were used to design a Web-based prototype using the D3 JavaScript library and VIVO data. Preliminary usability studies asked 20 participants to use the tool and to provide feedback through semistructured interviews and completion of the System Usability Scale (SUS). Initial interviews identified consensus regarding several novel requirements for collaborator search tools, including chronological display of publication and research funding information, the need for conjunctive keyword searches, and tools for tracking candidate collaborators. Participant responses were positive (SUS score: mean 76.4%, SD 13.9). Opportunities for improving the interface design were identified. Interactive, timeline-based displays that support comparison of researcher productivity in funding and publication have the potential to effectively support searching for collaborators. Further refinement and longitudinal studies may be needed to better understand the implications of collaborator search tools for researcher workflows.

  14. Explaining variation in perceived team effectiveness: results from eleven quality improvement collaboratives.

    PubMed

    Strating, Mathilde M H; Nieboer, Anna P

    2013-06-01

    Explore effectiveness of 11 collaboratives focusing on 11 different topics, as perceived by local improvement teams and to explore associations with collaborative-, organisational- and team-level factors. Evidence underlying the effectiveness of quality improvement collaboratives is inconclusive and few studies investigated determinants of implementation success. Moreover, most evaluation studies on quality improvement collaboratives are based on one specific topic or quality problem, making it hard to compare across collaboratives addressing different topics. A multiple-case cross-sectional study. Quality improvement teams in 11 quality improvement collaboratives focusing on 11 different topics. Team members received a postal questionnaire at the end of each collaborative. Of the 283 improvement teams, 151 project leaders and 362 team members returned the questionnaire. Analysis of variance revealed that teams varied widely on perceived effectiveness. Especially, members in the Prevention of Malnutrition and Prevention of Medication Errors collaboratives perceived a higher effectiveness than other groups. Multilevel regression analyses showed that educational level of professionals, innovation attributes, organisational support, innovative culture and commitment to change were all significant predictors of perceived effectiveness. In total, 27·9% of the individual-level variance, 57·6% of the team-level variance and 80% of the collaborative-level variance could be explained. The innovation's attributes, organisational support, an innovative team culture and professionals' commitment to change are instrumental to perceived effectiveness. The results support the notion that a layered approach is necessary to achieve improvements in quality of care and provides further insight in the determinants of success of quality improvement collaboratives. Understanding which factors enhance the impact of quality improvement initiatives can help professionals to achieve breakthrough improvement in care delivery to patients on a wide variety of quality problems. © 2012 Blackwell Publishing Ltd.

  15. Finding Collaborators: Toward Interactive Discovery Tools for Research Network Systems

    PubMed Central

    Schleyer, Titus K; Becich, Michael J; Hochheiser, Harry

    2014-01-01

    Background Research networking systems hold great promise for helping biomedical scientists identify collaborators with the expertise needed to build interdisciplinary teams. Although efforts to date have focused primarily on collecting and aggregating information, less attention has been paid to the design of end-user tools for using these collections to identify collaborators. To be effective, collaborator search tools must provide researchers with easy access to information relevant to their collaboration needs. Objective The aim was to study user requirements and preferences for research networking system collaborator search tools and to design and evaluate a functional prototype. Methods Paper prototypes exploring possible interface designs were presented to 18 participants in semistructured interviews aimed at eliciting collaborator search needs. Interview data were coded and analyzed to identify recurrent themes and related software requirements. Analysis results and elements from paper prototypes were used to design a Web-based prototype using the D3 JavaScript library and VIVO data. Preliminary usability studies asked 20 participants to use the tool and to provide feedback through semistructured interviews and completion of the System Usability Scale (SUS). Results Initial interviews identified consensus regarding several novel requirements for collaborator search tools, including chronological display of publication and research funding information, the need for conjunctive keyword searches, and tools for tracking candidate collaborators. Participant responses were positive (SUS score: mean 76.4%, SD 13.9). Opportunities for improving the interface design were identified. Conclusions Interactive, timeline-based displays that support comparison of researcher productivity in funding and publication have the potential to effectively support searching for collaborators. Further refinement and longitudinal studies may be needed to better understand the implications of collaborator search tools for researcher workflows. PMID:25370463

  16. Collaboration to Teach English Language Learners: Opportunities for Shared Teacher Learning

    ERIC Educational Resources Information Center

    Martin-Beltran, Melinda; Peercy, Megan Madigan

    2014-01-01

    This study examines collaboration between English for Speakers of Other Languages (ESOL) teachers and content-area elementary school teachers, and makes the case for conceptualising teacher collaboration as an opportunity for shared teacher learning. Using a sociocultural theoretical lens, this study examines how three pairs of elementary teachers…

  17. Collaborative Textbook Selection: A Case Study Leading to Practical and Theoretical Considerations

    ERIC Educational Resources Information Center

    Czerwionka, Lori; Gorokhovsky, Bridget

    2015-01-01

    This case study developed a collaborative approach to the selection of a Spanish language textbook. The collaborative process consisted of six steps, detailed in this article: team building, generating evaluation criteria, formulating a meaningful rubric, selecting prospective textbooks, calculating rubric results, and reflectively reviewing…

  18. Two Studies Examining Subconscious Cognitive Processing in Collaboration Technology Usage

    ERIC Educational Resources Information Center

    Wells, Taylor Michael

    2012-01-01

    In this dissertation, I investigate how the usage of collaboration technologies consciously and subconsciously affects both communicators and how they communicate. I present two related studies examining different facets of how the use of collaboration technologies such as email and voicemail influence affective processing in the communicator and…

  19. Working Together for Student Success: Cross-Functional Collaboration at Community Colleges

    ERIC Educational Resources Information Center

    Loveday, Joyce E.

    2010-01-01

    The purpose of this study was to identify and describe the underlying mechanisms within community colleges that influence cross-functional collaboration. The study also explored the role of community college leadership in fostering internal collaboration. The following questions guided the research: (1) What does cross-functional collaboration…

  20. Collaboration in Early Childhood Intervention Services in Gauteng: Caregiver Perspectives

    ERIC Educational Resources Information Center

    Kyarkanaye, Thilendree; Dada, Shakila; Samuels, Alecia E.

    2017-01-01

    A central tenant of early childhood intervention (ECI) is collaboration between professionals and the caregivers of children receiving these services. There are limited studies on caregiver perceptions of collaboration in ECI teams particularly in resource-limited countries. Sixty-four caregivers participated in this study by completing a…

  1. Examining Greek Special Education Teachers' Individual and Collaborative Teaching Experiences

    ERIC Educational Resources Information Center

    Morfidi, Eleni; Samaras, Anastasia P.

    2015-01-01

    In this exploratory study, the authors examine Greek special education teachers' individual and collaborative teaching experiences in the context of their literacy instruction. The Five Foci Framework, situated in Vygotskian theory, is utilized in the study's design to examine special education teachers' individual and collaborative experiences…

  2. Problematizing Collaboration: A Critical Review of the Empirical Literature on Teaching Teams

    ERIC Educational Resources Information Center

    Duke, Thomas Scott

    2004-01-01

    Twenty-six empirical studies of collaboration among teaching teams comprised of general and special educators were reviewed to determine the impact of ethnocultural diversity, gender diversity, sexual orientation diversity, and disability status diversity on collaborative teaming. Only 1 (4%) of the 26 studies acknowledged that ethnocultural and…

  3. Establishing Learning Communities among Science Teachers through Lesson Study

    ERIC Educational Resources Information Center

    Mee, Lee Shok; Oyao, Sheila Gamut

    2013-01-01

    The fundamental philosophy embedded in lesson study is the collaborative practice of teachers working together to plan, teach, observe, reflect and refine lessons. It has been well established that collaboration strengthens teacher collegial relationships and enhances pedagogical content knowledge. While teacher collaboration seems to be a norm in…

  4. Collaborative Team Model: Design for Successful Special Education

    ERIC Educational Resources Information Center

    Bishop, Ellis Norman

    2016-01-01

    This study examined the academic impact in reading and mathematics when Collaborative, Co-Teaching Team Model of high incidence special education student service delivery implemented in a suburban school district. This study hypothesized that the implementation of an inclusive collaborative co-teaching model of service delivery could possibly…

  5. University-Industry Collaboration, Knowledge Management and Enterprise Innovation Performance: An Empirical Study

    ERIC Educational Resources Information Center

    Chen, Jin; Wei, Shiyang

    2008-01-01

    This empirical study is concerned with university-industry collaboration from a knowledge management perspective. The authors introduce the concepts of "enterprise-level core elements" to define the principle status of an enterprise during university-industry collaboration, and "network embeddedness" as an indication of the…

  6. Collaboration Agreement | FNLCR Staging

    Cancer.gov

    A Collaboration Agreement is appropriate for research collaboration involving intellectual and material contributions by the Frederick National Laband external partner(s). It is useful for proof-of-concept studies. Includes brief rese

  7. Facilitating professional liaison in collaborative care for depression in UK primary care; a qualitative study utilising normalisation process theory.

    PubMed

    Coupe, Nia; Anderson, Emma; Gask, Linda; Sykes, Paul; Richards, David A; Chew-Graham, Carolyn

    2014-05-01

    Collaborative care (CC) is an organisational framework which facilitates the delivery of a mental health intervention to patients by case managers in collaboration with more senior health professionals (supervisors and GPs), and is effective for the management of depression in primary care. However, there remains limited evidence on how to successfully implement this collaborative approach in UK primary care. This study aimed to explore to what extent CC impacts on professional working relationships, and if CC for depression could be implemented as routine in the primary care setting. This qualitative study explored perspectives of the 6 case managers (CMs), 5 supervisors (trial research team members) and 15 general practitioners (GPs) from practices participating in a randomised controlled trial of CC for depression. Interviews were transcribed verbatim and data was analysed using a two-step approach using an initial thematic analysis, and a secondary analysis using the Normalisation Process Theory concepts of coherence, cognitive participation, collective action and reflexive monitoring with respect to the implementation of CC in primary care. Supervisors and CMs demonstrated coherence in their understanding of CC, and consequently reported good levels of cognitive participation and collective action regarding delivering and supervising the intervention. GPs interviewed showed limited understanding of the CC framework, and reported limited collaboration with CMs: barriers to collaboration were identified. All participants identified the potential or experienced benefits of a collaborative approach to depression management and were able to discuss ways in which collaboration can be facilitated. Primary care professionals in this study valued the potential for collaboration, but GPs' understanding of CC and organisational barriers hindered opportunities for communication. Further work is needed to address these organisational barriers in order to facilitate collaboration around individual patients with depression, including shared IT systems, facilitating opportunities for informal discussion and building in formal collaboration into the CC framework. ISRCTN32829227 30/9/2008.

  8. Inter-organizational collaboration projects in the public sector: a balance between integration and demarcation.

    PubMed

    Löfström, Mikael

    2010-01-01

    For several years, the development of the Swedish public sector has been accompanied by a discussion about inter-organizational collaboration, which has been examined in several national experiments. The experience, however, indicates significant difficulties in implementing collaboration in local authorities' regular activities. This article argues that organizing inter-organizational collaboration in projects tends to be counterproductive, since the purpose of this collaboration is to increase the integration of local authorities. This article is based on case studies of three different collaboration projects. Each project is analyzed in relation to the way collaboration is organized within the project and how the relationship to the local authorities' activities is designed. The outcome of these studies shows that while collaboration projects increase integration between the responsible authorities, the integration stays within the projects. This is due to the fact that the projects were designed as units separate from the responsible authorities. As a result, the collaboration that occurs in the projects is not implemented in the local authorities' activities, and the viability of the increased integration of different responsible authorities does not extend beyond the projects. Copyright (c) 2009 John Wiley & Sons, Ltd.

  9. Collaborative agency to support integrated care for children, young people and families: an action research study.

    PubMed

    Stuart, Kaz

    2014-04-01

    Collaboration was legislated in the delivery of integrated care in the early 2000s in the UK. This research explored how the reality of practice met the rhetoric of collaboration. The paper is situated against a theoretical framework of structure, agency, identity and empowerment. Collectively and contextually these concepts inform the proposed model of 'collaborative agency' to sustain integrated care. The paper brings sociological theory on structure and agency to the dilemma of collaboration. Participative action research was carried out in collaborative teams that aspired to achieve integrated care for children, young people and families between 2009 and 2013. It was a part time, PhD study in collaborative practice. The research established that people needed to be able to be jointly aware of their context, to make joint decisions, and jointly act in order to deliver integrated services, and proposes a model of collaborative agency derived from practitioner's experiences and integrated action research and literature on agency. The model reflects the effects of a range of structures in shaping professional identity, empowerment, and agency in a dynamic. The author proposes that the collaborative agency model will support integrated care, although this is, as yet, an untested hypothesis.

  10. Collaborative Orthopaedic Research Between and Within Institutions.

    PubMed

    Wolf, Brian R; Verma, Nikhil N; Spindler, Kurt P; Wright, Rick W

    2017-02-15

    Collaborative research is common in many medical disciplines; however, the field of orthopaedics has been relatively slow to adopt this type of research approach. Collaborative research efforts can occur between multiple institutions and, in some instances, may benefit from subspecialty society sponsorship. Collaborative research efforts between several research spheres within a single institution also can be advantageous. Collaborative research has many benefits, including a larger number of patients in studies, more power in the research, and better generalizability. In addition, collaborative research efforts allow resources to be pooled within and between institutions. The challenges of collaborative research include data management, funding, and the publication of manuscripts that have many authors.

  11. Apprenticeships, Collaboration and Scientific Discovery in Academic Field Studies

    NASA Astrophysics Data System (ADS)

    Madden, Derek Scott; Grayson, Diane J.; Madden, Erinn H.; Milewski, Antoni V.; Snyder, Cathy Ann

    2012-11-01

    Teachers may use apprenticeships and collaboration as instructional strategies that help students to make authentic scientific discoveries as they work as amateur researchers in academic field studies. This concept was examined with 643 students, ages 14-72, who became proficient at field research through cognitive apprenticeships with the Smithsonian Institute, School for Field Studies and Earthwatch. Control student teams worked from single research goals and sets of methods, while experimental teams varied goals, methods, and collaborative activities in Kenya, Costa Rica, Panama, and Ecuador. Results from studies indicate that students who conducted local pilot studies, collaborative symposia, and ongoing, long-term fieldwork generated significantly more data than did control groups. Research reports of the experimental groups were ranked highest by experts, and contributed the most data to international science journals. Data and anecdotal information in this report indicate that structured collaboration in local long-term studies using apprenticeships may increase the potential for students' academic field studies contribution of new information to science.

  12. Evolution and convergence of the patterns of international scientific collaboration.

    PubMed

    Coccia, Mario; Wang, Lili

    2016-02-23

    International research collaboration plays an important role in the social construction and evolution of science. Studies of science increasingly analyze international collaboration across multiple organizations for its impetus in improving research quality, advancing efficiency of the scientific production, and fostering breakthroughs in a shorter time. However, long-run patterns of international research collaboration across scientific fields and their structural changes over time are hardly known. Here we show the convergence of international scientific collaboration across research fields over time. Our study uses a dataset by the National Science Foundation and computes the fraction of papers that have international institutional coauthorships for various fields of science. We compare our results with pioneering studies carried out in the 1970s and 1990s by applying a standardization method that transforms all fractions of internationally coauthored papers into a comparable framework. We find, over 1973-2012, that the evolution of collaboration patterns across scientific disciplines seems to generate a convergence between applied and basic sciences. We also show that the general architecture of international scientific collaboration, based on the ranking of fractions of international coauthorships for different scientific fields per year, has tended to be unchanged over time, at least until now. Overall, this study shows, to our knowledge for the first time, the evolution of the patterns of international scientific collaboration starting from initial results described by literature in the 1970s and 1990s. We find a convergence of these long-run collaboration patterns between the applied and basic sciences. This convergence might be one of contributing factors that supports the evolution of modern scientific fields.

  13. Global scientific collaboration in COPD research.

    PubMed

    Su, Yanbing; Long, Chao; Yu, Qi; Zhang, Juan; Wu, Daisy; Duan, Zhiguang

    2017-01-01

    This study aimed to investigate the multiple collaboration types, quantitatively evaluate the publication trends and review the performance of institutions or countries (regions) across the world in COPD research. Scientometric methods and social network analysis were used to survey the development of publication trends and understand current collaboration in the field of COPD research based on the Web of Science publications during the past 18 years. The number of publications developed through different collaboration types has increased. Growth trends indicate that the percentage of papers authored through multinational and domestic multi-institutional collaboration (DMIC) have also increased. However, the percentage of intra-institutional collaboration and single-authored (SA) studies has reduced. The papers that produced the highest academic impact result from international collaboration. The second highest academic impact papers are produced by DMIC. Out of the three, the papers that are produced by SA studies have the least amount of impact upon the scientific community. A handful of internationally renowned institutions not only take the leading role in the development of the research within their country (region) but also play a crucial role in international research collaboration in COPD. Both the amount of papers produced and the amount of cooperation that occurs in each study are disproportionally distributed between high-income countries (regions) and low-income countries (regions). Growing attention has been generated toward research on COPD from more and more different academic domains. Despite the rapid development in COPD research, collaboration in the field of COPD research still has room to grow, especially between different institutions or countries (regions), which would promote the progress of global COPD research.

  14. A Framework for NGO-Military Collaboration

    DTIC Science & Technology

    2013-12-13

    from scholarly literature and inductively from case studies and practitioner interviews , I theorize that the efficacy of NGO-military collaboration...studies and practitioner interviews , I theorize that the efficacy of NGO-military collaboration varies with the type of NGO (INGO or LNGO) and the...scholarly literature on NGO-military interactions, and inductively from illustrative case studies from both civilian and military sources and interviews

  15. [Coauthorship networks and institutional collaboration in Revista de Neurología].

    PubMed

    González-Alcaide, G; Alonso-Arroyo, A; González de Dios, J; Sempere, A P; Valderrama-Zurián, J C; Aleixandre-Benavent, R

    Scientific cooperation is essential for the advance of science. Bibliometrics and social network analysis offer evaluation indicators to analyse collaboration in scientific papers. The aim of this study is to characterize scientific collaboration patterns in Revista de Neurología between 2002 and 2006. Coauthorships and institutional relationships of papers published in Revista de Neurología have been identified. Collaboration Index, the most productive authors' and institutional collaboration patterns and the types of institutional collaborations have been quantified. Also, it has been constructed the coauthorship networks and the institutional collaboration network. Networks have been identified and represented using Access and Pajek software tools. The Collaboration Index was 4.01. 56.54% of papers involved institutional collaboration. The collaboration between institutions of the same country prevails (52.7%), followed by collaborations between departments, services or units of the same institution (40.47%) and international collaboration (6.83%). 45 coauthorship networks involving 149 investigators with a high intensity of collaboration and a large institutional network involved 80 centres were observed. Revista de Neurología covers scientific production of a high number of research groups. It has been observed a positive evolution in the collaboration patterns over the time. Nevertheless, it is essential to encourage inter-regional and international collaboration.

  16. Organizational collaborative capacity in fighting pandemic crises: a literature review from the public management perspective.

    PubMed

    Lai, Allen Y

    2012-01-01

    Collaborative capacity serves for organizations as the capacity to collaborate with other network players. Organizational capacity matters as collaboration outcomes usually go beyond single-shot implementation efforts or a single-minded focus on either the vertical dimension of program or the horizontal component. This review article explores organizational collaborative capacities from the perspective of public management, in particular, network theory. By applying the 5 attributes of network theory-interdependence, membership, resources, information, and learning-to the explanation of collaborative capacity in fighting pandemic crises, I argue in some ways organizational collaborative capacity is very much like an organization in its own right. Studying collaborative capacity in the battle against pandemics facilitate our understanding of multisectoral collaboration in technical, political, and institutional dimensions, and greatly advances the richness of capacity vocabulary in pandemic response and preparedness.

  17. Collaboration can improve individual recognition memory: evidence from immediate and delayed tests.

    PubMed

    Rajaram, Suparna; Pereira-Pasarin, Luciane P

    2007-02-01

    In two experiments, we tested the effects of collaboration on individual recognition memory. In Experiment 1, participants studied pictures and words either for meaning or for surface properties and made recognition memory judgments individually either following group discussion among 3 members (collaborative condition) or in the absence of discussion (noncollaborative condition). Levels of processing and picture superiority effects were replicated, and collaboration significantly increased individual recognition memory. Experiment 2 replicated this positive effect and showed that even though memory sensitivity declined at longer delays (48 h and 1 week), collaboration continued to exert a positive influence. These findings show that (1) consensus is not necessary for producing benefits of collaboration on individual recognition, (2) collaborative facilitation on individual memory is robust, and (3) collaboration enhances individual memory further if conditions predispose individual accuracy in the absence of collaboration.

  18. Task-Related and Social Regulation during Online Collaborative Learning

    ERIC Educational Resources Information Center

    Janssen, Jeroen; Erkens, Gijsbert; Kirschner, Paul A.; Kanselaar, Gellof

    2012-01-01

    This study investigated how students collaborate in a CSCL environment and how this collaboration affects group performance. To answer these questions, the collaborative process of 101 groups of secondary education students when working on a historical inquiry task was analyzed. Our analyses show that group members devote most of their efforts to…

  19. The Effects of a Creative Commons Approach on Collaborative Learning

    ERIC Educational Resources Information Center

    Liu, Chen-Chung; Tao, Shu-Yuan; Chen, Wei-Hung; Chen, Sherry Y.; Liu, Baw-Jhiune

    2013-01-01

    Social media on the World Wide Web, such as Wiki, are increasingly applied to support collaborative learning for students to conduct a project together. However, recent studies indicated that students, learning in the collaborative project, may not actively contribute to the collaborative work and are involved only in a limited level of positive…

  20. The Impact of Virtual Collaboration and Collaboration Technologies on Knowledge Transfer and Team Performance in Distributed Organizations

    ERIC Educational Resources Information Center

    Ngoma, Ngoma Sylvestre

    2013-01-01

    Virtual teams are increasingly viewed as a powerful determinant of competitive advantage in geographically distributed organizations. This study was designed to provide insights into the interdependencies between virtual collaboration, collaboration technologies, knowledge transfer, and virtual team performance in an effort to understand whether…

  1. A Qualitative Case Study of Teachers' Perceptions of Professional Learning through Mandated Collaboration

    ERIC Educational Resources Information Center

    Wilt, Barbara C.

    2016-01-01

    Teacher collaboration is a school improvement priority that has the potential to positively impact student learning by building the capacity of teachers. In some states, teacher collaboration is mandated by legislation. The literature indicates that policy-driven collaboration in a top-down approach results in unintentional consequences and…

  2. Collaboration Levels in Asynchronous Discussion Forums: A Social Network Analysis Approach

    ERIC Educational Resources Information Center

    Luhrs, Cecilia; McAnally-Salas, Lewis

    2016-01-01

    Computer Supported Collaborative Learning literature relates high levels of collaboration to enhanced learning outcomes. However, an agreement on what is considered a high level of collaboration is unclear, especially if a qualitative approach is taken. This study describes how methods of Social Network Analysis were used to design a collaboration…

  3. Collision Course: Embracing Politics to Succeed in District-Charter Collaboration

    ERIC Educational Resources Information Center

    Jochim, Ashley; Yatsko, Sarah; Opalka, Alice

    2018-01-01

    Many who attempt district-charter collaboration point to "politics" as a constraint that affects their work, but little is understood about why some collaborations enjoy broad support while others become mired in conflict. Drawing upon CRPE's multiyear study of district-charter collaborations in dozens of cities as well as research on…

  4. Schools and Neighborhood-Based Collaboration: Structural Resistances and Realities.

    ERIC Educational Resources Information Center

    Smithmier, Angela

    Community-based interagency collaboration among schools and other public service agencies is one reform idea for addressing the complex conditions of children with a high level of needs. This paper presents findings of a study that explored the workings of one community-based collaboration, referred to as the Community-Based Collaboration for…

  5. Dissonant Role Perception and Paradoxical Adjustments: An Exploratory Study on Medical Residents' Collaboration with Senior Doctors and Head Nurses

    ERIC Educational Resources Information Center

    Fiordelli, Maddalena; Schulz, Peter J.; Caiata Zufferey, Maria

    2014-01-01

    A good collaboration between health professionals is considered to have benefits for patients, healthcare staff, and organizations. Nevertheless, effective interprofessional collaboration is difficult to achieve. This is particularly true for collaboration between Medical Residents (MRs) and the immediate colleagues they interact with, as Senior…

  6. Grade-School Children's Social Collaborative Skills: Links with Partner Preference and Achievement

    ERIC Educational Resources Information Center

    Ladd, Gary W.; Kochenderfer-Ladd, Becky; Visconti, Kari Jeanne; Ettekal, Idean; Sechler, Casey M.; Cortes, Khaerannisa I.

    2014-01-01

    Little is known about the skills children need to successfully collaborate with classmates on academic assignments. The purposes of this study were to identify grade-schoolers' collaborative skills, evaluate the importance of identified skills for collaborative work, and determine whether differences in skill use were related to children's social…

  7. Effects of Collaborative Learning Styles on Performance of Students in a Ubiquitous Collaborative Mobile Learning Environment

    ERIC Educational Resources Information Center

    Fakomogbon, Michael Ayodele; Bolaji, Hameed Olalekan

    2017-01-01

    Collaborative learning is an approach employed by instructors to facilitate learning and improve learner's performance. Mobile learning can accommodate a variety of learning approaches. This study, therefore, investigated the effects of collaborative learning styles on performance of students in a mobile learning environment. The specific purposes…

  8. Using a Game Environment to Foster Collaborative Learning: A Design-Based Study

    ERIC Educational Resources Information Center

    Hamalainen, Raija

    2011-01-01

    Designing collaborative three-dimensional learning games for vocational learning may be one way to respond to the needs of working life. The theoretical vantage points of collaborative learning for game development and the "design-based research" methodology are described; these have been used to support collaborative learning in the…

  9. Raising Learners' Awareness through L1-L2 Teacher Collaboration

    ERIC Educational Resources Information Center

    Gunning, Pamela; White, Joanna; Busque, Christine

    2016-01-01

    There is considerable interest in teacher collaboration across mother tongue and second language curricula. However, cross-curricular collaboration in reading strategy instruction has seldom been investigated. We report a two-year study involving collaboration between the French first language (L1) and English second language (L2) teachers in an…

  10. Comparing Learning Performance of Students Using Algorithm Visualizations Collaboratively on Different Engagement Levels

    ERIC Educational Resources Information Center

    Laakso, Mikko-Jussi; Myller, Niko; Korhonen, Ari

    2009-01-01

    In this paper, two emerging learning and teaching methods have been studied: collaboration in concert with algorithm visualization. When visualizations have been employed in collaborative learning, collaboration introduces new challenges for the visualization tools. In addition, new theories are needed to guide the development and research of the…

  11. Collaborative Concept Mapping Activities in a Classroom Scenario

    ERIC Educational Resources Information Center

    Elorriaga, J. A.; Arruarte, A.; Calvo, I.; Larrañaga, M.; Rueda, U.; Herrán, E.

    2013-01-01

    The aim of this study is to test collaborative concept mapping activities using computers in a classroom scenario and to evaluate the possibilities that Elkar-CM offers for collaboratively learning non-technical topics. Elkar-CM is a multi-lingual and multi-media software program designed for drawing concept maps (CMs) collaboratively. Concept…

  12. Virtual collaboration in the online educational setting: a concept analysis.

    PubMed

    Breen, Henny

    2013-01-01

    This study was designed to explore the concept of virtual collaboration within the context of an online learning environment in an academic setting. Rodgers' method of evolutionary concept analysis was used to provide a contextual view of the concept to identify attributes, antecedents, and consequences of virtual collaboration. Commonly used terms to describe virtual collaboration are collaborative and cooperative learning, group work, group interaction, group learning, and teamwork. A constructivist pedagogy, group-based process with a shared purpose, support, and web-based technology is required for virtual collaboration to take place. Consequences of virtual collaboration are higher order thinking and learning to work with others. A comprehensive definition of virtual collaboration is offered as an outcome of this analysis. Clarification of virtual collaboration prior to using it as a pedagogical tool in the online learning environment will enhance nursing education with the changes in nursing curriculum being implemented today. Further research is recommended to describe the developmental stages of the collaborative process among nursing students in online education and how virtual collaboration facilitates collaboration in practice. © 2013 Wiley Periodicals, Inc.

  13. Economics of collaborative care for management of depressive disorders: a community guide systematic review.

    PubMed

    Jacob, Verughese; Chattopadhyay, Sajal K; Sipe, Theresa Ann; Thota, Anilkrishna B; Byard, Guthrie J; Chapman, Daniel P

    2012-05-01

    Major depressive disorders are frequently underdiagnosed and undertreated. Collaborative Care models developed from the Chronic Care Model during the past 20 years have improved the quality of depression management in the community, raising intervention cost incrementally above usual care. This paper assesses the economic efficiency of collaborative care for management of depressive disorders by comparing its economic costs and economic benefits to usual care, as informed by a systematic review of the literature. The economic review of collaborative care for management of depressive disorders was conducted in tandem with a review of effectiveness, under the guidance of the Community Preventive Services Task Force, a nonfederal, independent group of public health leaders and experts. Economic review methods developed by the Guide to Community Preventive Services were used by two economists to screen, abstract, adjust, and summarize the economic evidence of collaborative care from societal and other perspectives. An earlier economic review that included eight RCTs was included as part of the evidence. The present economic review expanded the evidence with results from studies published from 1980 to 2009 and included both RCTs and other study designs. In addition to the eight RCTs included in the earlier review, 22 more studies of collaborative care that provided estimates for economic outcomes were identified, 20 of which were evaluations of actual interventions and two of which were based on models. Of seven studies that measured only economic benefits of collaborative care in terms of averted healthcare or productivity loss, four found positive economic benefits due to intervention and three found minimal or no incremental benefit. Of five studies that measured both benefits and costs, three found lower collaborative care cost because of reduced healthcare utilization or enhanced productivity, and one found the same for a subpopulation of the intervention group. One study found that willingness to pay for collaborative care exceeded program costs. Among six cost-utility studies, five found collaborative care was cost effective. In two modeled studies, one showed cost effectiveness based on comparison of $/disability-adjusted life-year to annual per capita income; the other demonstrated cost effectiveness based on the standard threshold of $50,000/quality-adjusted life year, unadjusted for inflation. Finally, six of eight studies in the earlier review reported that interventions were cost effective on the basis of the standard threshold. The evidence indicates that collaborative care for management of depressive disorders provides good economic value. Published by Elsevier Inc.

  14. The MSFC Collaborative Engineering Process for Preliminary Design and Concept Definition Studies

    NASA Technical Reports Server (NTRS)

    Mulqueen, Jack; Jones, David; Hopkins, Randy

    2011-01-01

    This paper describes a collaborative engineering process developed by the Marshall Space Flight Center's Advanced Concepts Office for performing rapid preliminary design and mission concept definition studies for potential future NASA missions. The process has been developed and demonstrated for a broad range of mission studies including human space exploration missions, space transportation system studies and in-space science missions. The paper will describe the design team structure and specialized analytical tools that have been developed to enable a unique rapid design process. The collaborative engineering process consists of integrated analysis approach for mission definition, vehicle definition and system engineering. The relevance of the collaborative process elements to the standard NASA NPR 7120.1 system engineering process will be demonstrated. The study definition process flow for each study discipline will be will be outlined beginning with the study planning process, followed by definition of ground rules and assumptions, definition of study trades, mission analysis and subsystem analyses leading to a standardized set of mission concept study products. The flexibility of the collaborative engineering design process to accommodate a wide range of study objectives from technology definition and requirements definition to preliminary design studies will be addressed. The paper will also describe the applicability of the collaborative engineering process to include an integrated systems analysis approach for evaluating the functional requirements of evolving system technologies and capabilities needed to meet the needs of future NASA programs.

  15. Promoting College Student Development through Collaborative Learning: A Case Study of "Hevruta"

    ERIC Educational Resources Information Center

    Bergom, Inger; Wright, Mary C.; Brown, Marie Kendall; Brooks, Michael

    2011-01-01

    Much has been written about the benefits of collaborative learning in terms of its impact on interpersonal skills and academic achievement. Many education studies suggest that students learn better when they work interactively with others and that retention of material is improved through collaborative learning. Others explain that the development…

  16. PLANNED INTEGRATION OF MEASUREMENT AND SURVEY DATA FROM THE DEARS WITH LOCAL AND REGIONAL RESEARCH EFFORTS: PRELIMINARY DATA FINDINGS AND OBSERVATIONS

    EPA Science Inventory

    The Canadian-US Border Air Quality Studies represent collaborative research being performed by both parties. This abstract details the efforts of the Detroit Exposure and Aerosol Research Study (DEARS) to work collaboratively in this regards. A discussion of the collaborations ...

  17. Using Computer Conferencing and Case Studies to Enable Collaboration Between Expert and Novice Teachers

    ERIC Educational Resources Information Center

    Winter, Eileen C.; McGhie-Richmond, Donna

    2005-01-01

    This paper reports on a teaching innovation where groups of experienced and novice teachers collaborated in analyzing case studies involving the education of students with special learning needs. The teachers collaborated in an asynchronous computer conferencing system (Web Knowledge Forum). All participants were enrolled in special education…

  18. Leading Cultural Change in a School District through a Budget Building Collaboration

    ERIC Educational Resources Information Center

    Radford, Ricky Warren

    2009-01-01

    The purpose of this study was to assess, plan, and implement a budget building process through collaboration with the stakeholders of a targeted school district. The research question of this study was, "Will allowing the stakeholders more input, autonomy, and collaboration during a budget building process build a team environment and…

  19. Strategies, Obstacles, and Attitudes: Student Collaboration in Information Seeking and Synthesis Projects

    ERIC Educational Resources Information Center

    Leeder, Chris; Shah, Chirag

    2016-01-01

    Introduction: While group work that takes place in education contexts has been studied by researchers, student collaborative research behaviour has received less attention. This empirical case study examined the strategies that students use and the obstacles they encounter while working in collaborative information seeking contexts on an in-class…

  20. Stress in Japanese Learners Engaged in Online Collaborative Learning in English

    ERIC Educational Resources Information Center

    Jung, Insung; Kudo, Masayuki; Choi, Sook-Kyoung

    2012-01-01

    Many studies report positive learning experience and improved performance in online collaborative learning. However, such learning can also incur unnecessary or excessive stress with a resultant adverse effect on the learning. This study aimed to determine the stress factors in online collaborative learning as perceived by 226 Japanese university…

  1. Successful Collaboration between General Education and Special Education Teachers: A Case Study

    ERIC Educational Resources Information Center

    Simon, Barbara D.

    2017-01-01

    The study focused on the experiences of general and special education teachers on what constitutes successful collaboration since there is little evidence existing on the phenomenon. For collaboration to be successful, it must go beyond having two teachers in a classroom delivering instructions. It entails deliberate practices enabling teachers to…

  2. Exploring Collaborative Culture and Leadership in Large High Schools

    ERIC Educational Resources Information Center

    Jeffers, Michael P.

    2013-01-01

    The purpose of this exploratory study was to analyze how high school principals approached developing a collaborative culture and providing collaborative leadership in a large high school setting. The population sample for this study was 82 principals of large comprehensive high schools of grades 9 through 12 or some combination thereof with…

  3. Interconnectedness and Contingencies: A Study of Context in Collaborative Information Seeking

    ERIC Educational Resources Information Center

    Spence, Patricia Ruma

    2013-01-01

    Collaborative information seeking (CIS) is an important aspect of work in organizational settings. Researchers are developing a more detailed understanding of CIS activities and the tools to support them; however, most studies of CIS focus on how people find and retrieve information collaboratively, while overlooking the important question of how…

  4. Pairing of Pre-Service and Cooperating Teachers during Student Internship: Opinions of Collaborative Relationships

    ERIC Educational Resources Information Center

    Lawley, Jennifer Avery

    2012-01-01

    This study investigated the opinions of collaborative relationships of pre-service and cooperating teachers during the internship semester. The primary purpose of the study was to determine if purposefully pairing pre-service and cooperating teachers with similar personality traits improved the opinions of collaboration. Using the method of…

  5. Case Study of Characteristics of Effective Leadership in Graduate Student Collaborative Work

    ERIC Educational Resources Information Center

    Duemer, Lee S.; Christopher, Mary; Hardin, Fred; Olibas, Lezlie; Rodgers, Terry; Spiller, Kevin

    2004-01-01

    The purpose of the study was to determine the effective leadership characteristics of graduate students working in a collaborative setting. A secondary goal was to develop recommendations that will help faculty better utilize group collaboration as a learning experience for graduate students. Data consisted of interviews of graduate students who…

  6. Benefits of Teaching Interdisciplinary Subjects Collaboratively in Jordanian Pre-Vocational Education

    ERIC Educational Resources Information Center

    Al-Saaideh, Mon'im A.; Al-Zyoud, Mohammad Sayel Nasr-allah

    2015-01-01

    The study aimed to investigate the benefits of teaching pre-vocational education (PVE) through the collaboration of the other teacher with the PVE teacher. The study adopted experimental and descriptive methodologies. An experiment was conducted through collaboration of teachers of different subjects in Pre-Vocational Education (PVE) to teach a…

  7. Collaboration in a Multidisciplinary, Distributed Research Organization: A Case Study

    ERIC Educational Resources Information Center

    Duysburgh, Pieter; Naessens, Kris; Konings, Wim; Jacobs, An

    2012-01-01

    Collaboration has become a main characteristic of academic research today. New forms of research organizations, colaboratories, have come to the fore, with distributed research centres as their most complex example. In this study, we aim to provide some insight into the collaboration strategies of researchers in their daily researching activities…

  8. Examining the Process of University-School-Community Collaboration in an Irish Sports Studies and Physical Education Context

    ERIC Educational Resources Information Center

    Crawford, Susan

    2015-01-01

    University-school-community collaborations are little documented despite being advocated across third-level institutes. Researchers identify the need for quality university-school-community collaborations to tackle a host of social inequalities while also addressing innovative approaches to teaching and learning. This study involved the…

  9. Trust and Extra Effort Implementing Curriculum Reform: The Mediating Effects of Collaboration

    ERIC Educational Resources Information Center

    Cerit, Yusuf

    2013-01-01

    This study aims to examine the relationship between trust and extra effort implementing reform, and relationship between trust and extra effort are mediated by collaboration. The study was carried out in elementary schools in Turkey. Faculty trust in schools was measured using the Omnibus T-Scale, collaboration was measured using collaboration…

  10. Evaluating Types of Students' Interactions in a Wiki-Based Collaborative Learning Project

    ERIC Educational Resources Information Center

    Prokofieva, Maria

    2013-01-01

    Wiki technology has been promoted as a collaborative software platform. This study investigates interactions that occur in a wiki-based collaborative learning project. The study draws on interaction literature and investigates the types of interactions with which students are engaged in wiki-based group projects, clusters that reflect online…

  11. How Pictorial Knowledge Representations Mediate Collaborative Knowledge Construction in Groups

    ERIC Educational Resources Information Center

    Naykki, Piia; Jarvela, Sanna

    2008-01-01

    This study investigates the process of collaborative knowledge construction when technology and pictorial knowledge representations are used for visualizing individual and groups' shared ideas. The focus of the study is on how teacher-students contribute to the group's collaborative knowledge construction and use each other's ideas and tools as an…

  12. Coverage of the Victorian newborn screening programme in 2003: a retrospective population study.

    PubMed

    Jaques, Alice M; Collins, Veronica R; Pitt, James; Halliday, Jane L

    2008-09-01

    To assess the coverage of the newborn screening (NBS) program in Victoria, Australia, and identify potential predictors of not being screened. Victoria, Australia, 2003. The Victorian NBS program screens for phenylketonuria (PKU), cystic fibrosis, congenital hypothyroidism and more than 20 metabolic conditions, such as medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. Victorian birth records (n = 63,018) were linked to Victorian NBS records (n = 62,876) using probabilistic record linkage. Binary logistic regression was used to identify potential predictors of not being screened. Uptake of NBS was 99.4% (62,643/63,018), resulting in 0.6% (375) of livebirths not matched to a NBS test. Neonatal death was the most significant factor associated with not being screened (relative risk (RR) = 407, 95%Cl = 314 to 526). After adjustment, surviving livebirths had an increased likelihood of not being matched to a NBS record if they: were transferred between hospitals (odds ratio (OR) = 2.4, 95% confidence interval (Cl) 1.5 to 3.9); were born at home (OR = 12.1, 95%Cl 6.3 to 23.3); resided in rural Victoria (OR = 2.6, 95%Cl 1.5 to 4.3); stayed in hospital for one day or less (OR = 4.6, 95%Cl 2.8 to 7.6); or whose mothers were primiparous (OR = 1.5, 95%Cl 1.1 to 2.1). NBS uptake is extremely high in Victoria with over 99% of livebirths screened. Particular risk factors for not having NBS have now been identified, which could lead to changes around monitoring neonates who are not born in a hospital, or leave/transfer hospital, before the NBS period (48-72 hours). Future studies could determine whether those not screened had opted-out or were not offered NBS.

  13. An interdisciplinary lighting design studio: Opportunities and challenges of collaborative learning

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Guzowski, M.; Ginthner, D.

    1997-12-31

    Interdisciplinary study is based on the proposition that collaboration will enrich and expand understanding within a discipline and will also reveal connections to other fields of study, the community, the natural environment, etc. This study, the community, the natural environment, etc. This paper will present the results of a collaborative lighting design studio which was conducted by the Department of Architecture and the Interior Design Program at the University of Minnesota. The objectives of the studio were threefold: (1) To provide an opportunity for collaboration between students in design disciplines, (2) to introduce students to collaboration with design practitioners andmore » clients, and (3) to expose students to interdisciplinary work prior to graduation. Three projects by local firms were used for the design investigation. The following discussion will explore the opportunities and challenges of collaborative education and the interdisciplinary design studio. The objectives, roles of the teachers and the students, coursework, and future directions will be considered.« less

  14. Designing attractive gamification features for collaborative storytelling websites.

    PubMed

    Hsu, Shang Hwa; Chang, Jen-Wei; Lee, Chun-Chia

    2013-06-01

    Gamification design is considered as the predictor of collaborative storytelling websites' success. Although aforementioned studies have mentioned a broad range of factors that may influence gamification, they neither depicted the actual design features nor relative attractiveness among them. This study aims to identify attractive gamification features for collaborative storytelling websites. We first constructed a hierarchical system structure of gamification design of collaborative storytelling websites and conducted a focus group interview with eighteen frequent users to identify 35gamification features. After that, this study determined the relative attractiveness of these gamification features by administrating an online survey to 6333 collaborative storytelling websites users. The results indicated that the top 10 most attractive gamification features could account for more than 50% of attractiveness among these 35 gamification features. The feature of unpredictable time pressure is important to website users, yet not revealed in previous relevant studies. Implications of the findings were discussed.

  15. Collaboration Agreement | Frederick National Laboratory for Cancer Research

    Cancer.gov

    A Collaboration Agreement is appropriate for research collaboration involving intellectual and material contributions by the Frederick National Laboratory and external partner(s). It is useful for proof-of-concept studies. Includes brief re

  16. Interdisciplinary knowledge translation: lessons learned from a mental health: fire service collaboration.

    PubMed

    Henderson, Joanna L; Mackay, Sherri; Peterson-Badali, Michele

    2010-12-01

    Collaborative approaches are being increasingly advocated for addressing a variety of health, mental health and social needs for children, youth and families. Factors important for effective knowledge translation of collaborative approaches of service delivery across disciplines, however, have not been rigorously examined. TAPP-C: The Arson Prevention Program for Children is an intervention program for child and adolescent firesetters provided collaboratively by fire service and mental health professionals. The present study examined the adopter, innovation, and dissemination characteristics associated with TAPP-C implementation, protocol adherence and extent of collaboration by 241 community-based fire service professionals from communities across Ontario. Results revealed that dissemination factors are particularly important for understanding program implementation, adherence and cross-discipline collaboration. Moreover, the findings of this study show significant benefits to both within discipline (intra-disciplinary) and across discipline (interdisciplinary) knowledge translation strategies.

  17. Professionals learning together with patients: An exploratory study of a collaborative learning Fellowship programme for healthcare improvement.

    PubMed

    Myron, Rowan; French, Catherine; Sullivan, Paul; Sathyamoorthy, Ganesh; Barlow, James; Pomeroy, Linda

    2018-05-01

    Improving the quality of healthcare involves collaboration between many different stakeholders. Collaborative learning theory suggests that teaching different professional groups alongside each other may enable them to develop skills in how to collaborate effectively, but there is little literature on how this works in practice. Further, though it is recognised that patients play a fundamental role in quality improvement, there are few examples of where they learn together with professionals. To contribute to addressing this gap, we review a collaborative fellowship in Northwest London, designed to build capacity to improve healthcare, which enabled patients and professionals to learn together. Using the lens of collaborative learning, we conducted an exploratory study of six cohorts of the year long programme (71 participants). Data were collected using open text responses from an online survey (n = 31) and semi-structured interviews (n = 34) and analysed using an inductive open coding approach. The collaborative design of the Fellowship, which included bringing multiple perspectives to discussions of real world problems, was valued by participants who reflected on the safe, egalitarian space created by the programme. Participants (healthcare professionals and patients) found this way of learning initially challenging yet ultimately productive. Despite the pedagogical and practical challenges of developing a collaborative programme, this study indicates that opening up previously restricted learning opportunities as widely as possible, to include patients and carers, is an effective mechanism to develop collaborative skills for quality improvement.

  18. [Potential Benchmarks for Successful Interdisciplinary Collaboration Projects in Germany: A Systematic Review].

    PubMed

    Weißenborn, Marina; Schulz, Martin; Kraft, Manuel; Haefeli, Walter E; Seidling, Hanna M

    2018-06-21

    Collaboration between general practitioners and community pharmacists is essential to ensure safe and effective patient care. However, collaboration in primary care is not standardized and varies greatly. This review aims to highlight projects about professional collaboration in ambulatory care in Germany and identifies promising approaches and successful benchmarks that should be considered for future projects. A systematic literature search was performed based on the PRISMA guidelines to identify articles focusing on professional collaboration between general practitioners and pharmacists. A total of 542 articles were retrieved. Six potential premises for successful cooperation projects were identified: GP and CP knowing each other (I), involvement of both health care providers in the project planning (II), sharing of experience or concerns during regular joint meetings enabling continuing evaluation and adaption (III), ensuring (technical) feasibility (IV), particularly by providing incentives (V), and by integrating these projects into existing health care structures (VI). Only few studies have been published in scientific journals. There was no standardized assessment of how the participants perceived their collaboration and how it facilitates their daily work, even when the study aimed to evaluate GP-CP collaboration. Successful cooperation between GP and CP in daily routine care was often characterized by personal contact and longtime relationships. Therefore, collaborative teaching sessions at university might establish sympathy and mutual understanding right from the beginning. There is a strong need to establish standardized tools to evaluate collaboration in future projects and to enable comparability of different studies. © Georg Thieme Verlag KG Stuttgart · New York.

  19. Hospital networks: how to make them work in Belgium? Facilitators and barriers of different governance models.

    PubMed

    De Pourcq, Kaat; De Regge, Melissa; Van den Heede, Koen; Van de Voorde, Carine; Gemmel, Paul; Eeckloo, Kristof

    2018-03-29

    Objectives This study aims to identify the facilitators and barriers to governance models of hospital collaborations. The country-specific characteristics of the Belgian healthcare system and legislation are taken into account. Methods A case study was carried out in six Belgian hospital collaborations. Different types of governance models were selected: two health systems, two participant-governed networks, and two lead-organization-governed networks. Within these collaborations, 43 people were interviewed. Results All structures have both advantages and disadvantages. It is important that the governance model fits the network. However, structural, procedural, and especially contextual factors also affect the collaborations, such as alignment of hospitals' and professionals' goals, competition, distance, level of integrated care, time needed for decision-making, and legal and financial incentives. Conclusion The fit between the governance model and the collaboration can facilitate the functioning of a collaboration. The main barriers we identified are contextual factors. The Belgian government needs to play a major role in facilitating collaboration.

  20. Nurse faculty as international research collaborators.

    PubMed

    O'Keefe, Louise C; Frith, Karen H; Barnby, Elizabeth

    2017-03-01

    Nursing faculty who desire to expand their research portfolios will benefit from collaboration with researchers with complimentary interests from different universities across the world. International collaboration can enhance the productivity of researchers who seek to conduct studies with similar populations in different environments, and who desire a larger impact based on the findings of their studies. International collaborative teams have the potential to make important discoveries that affect the health of populations across the world. Communication is a critical step in defining the roles and professional relationships of researchers involved in international collaboration. Researchers need to be cognizant of rules affecting data security, intellectual property, data ownership, and funding sources in each country. International collaborative research can be exciting and rewarding, especially when participants are culturally aware, respect universities' policies, and are mindful of the ethical and legal principles for the countries in which the research is conducted. This article describes ways to enhance the success of nursing faculty who desire a rich experience with international research collaborators. © 2016 John Wiley & Sons Australia, Ltd.

  1. Collaborative research: empowering students and connecting to community.

    PubMed

    Mills-Dick, Kelly; Hull, Jessie Mia

    2011-01-01

    Public health social work is committed to improving the health and well-being of individuals and communities. Collaborative partnerships can be a tremendous resource and valuable approach to meeting community needs. This article discusses the essential role of partnership and community learning through the case study of a student-faculty team engaged in collaborative research on homelessness in upstate New York in an effort to inform the development of a community affordable housing plan. The goals of the project were to (1) improve understanding of homelessness at the local level, (2) contribute to community planning efforts to end homelessness, and (3) enrich public health social work skills. This case study describes the various ways in which collaboration is cultivated and infused throughout the life of a project. The authors reflect on benefits and challenges of collaboration, and suggest considerations for designing collaborative research projects. This article discusses the impact faculty-student and college-community collaborative partnerships can have on expanding knowledge and enhancing community well-being.

  2. Quantifiable outcomes from corporate and higher education learning collaborations

    NASA Astrophysics Data System (ADS)

    Devine, Thomas G.

    The study investigated the existence of measurable learning outcomes that emerged out of the shared strengths of collaborating sponsors. The study identified quantifiable learning outcomes that confirm corporate, academic and learner participation in learning collaborations. Each of the three hypotheses and the synergy indicator quantitatively and qualitatively confirmed learning outcomes benefiting participants. The academic-indicator quantitatively confirmed that learning outcomes attract learners to the institution. The corporate-indicator confirmed that learning outcomes include knowledge exchange and enhanced workforce talents for careers in the energy-utility industry. The learner-indicator confirmed that learning outcomes provide professional development opportunities for employment. The synergy-indicator confirmed that best learning practices in learning collaborations emanate out of the sponsors' shared strengths, and that partnerships can be elevated to strategic alliances, going beyond response to the desires of sponsors to create learner-centered cultures. The synergy-indicator confirmed the value of organizational processes that elevate sponsors' interactions to sharing strength, to create a learner-centered culture. The study's series of qualitative questions confirmed prior success factors, while verifying the hypothesis results and providing insight not available from quantitative data. The direct benefactors of the study are the energy-utility learning-collaboration participants of the study, and corporation, academic institutions, and learners of the collaboration. The indirect benefactors are the stakeholders of future learning collaborations, through improved knowledge of the existence or absence of quantifiable learning outcomes.

  3. The Role of Collaborative Learning on Training and Development Practices within the Australian Men's Shed Movement: A Study of Five Men's Sheds

    ERIC Educational Resources Information Center

    Cavanagh, Jillian; Southcombe, Amie; Bartram, Tim

    2014-01-01

    This study examines the role and impact of collaborative learning on training and development practices in Australian Men's Sheds. We use a case study approach, underpinned by Peters and Armstrong's theoretical framework of collaborative learning in adult education, to investigate five Men's Sheds. Semi-structured interviews were carried out with…

  4. Narratives of the Leadership Development of Adults Who Served as Summer Camp Staff in the Mennonite Setting: A Multiple Case Study

    ERIC Educational Resources Information Center

    Harrison, Jason

    2013-01-01

    Problem: Leaders today need a new set of knowledge and skills to be effective in collaborative environments. The focus of this study was to investigate how collaborative environments can contribute to leadership development. The purpose of this study was to describe how the collaborative environment of summer camp helped shape emerging adults as…

  5. The experiences of midwives and nurses collaborating to provide birthing care: a systematic review.

    PubMed

    Macdonald, Danielle; Snelgrove-Clarke, Erna; Campbell-Yeo, Marsha; Aston, Megan; Helwig, Melissa; Baker, Kathy A

    2015-11-01

    Collaboration has been associated with improved health outcomes in maternity care. Collaborative relationships between midwives and physicians have been a focus of literature regarding collaboration in maternity care. However despite the front line role of nurses in the provision of maternity care, there has not yet been a systematic review conducted about the experiences of midwives and nurses collaborating to provide birthing care. The objective of this review was to identify, appraise and synthesize qualitative evidence on the experiences of midwives and nurses collaborating to provide birthing care.Specifically, the review question was: what are the experiences of midwives and nurses collaborating to provide birthing care? This review considered studies that included educated and licensed midwives and nurses with any length of practice. Nurses who work in labor and delivery, postpartum care, prenatal care, public health and community health were included in this systematic review.This review considered studies that investigated the experiences of midwives and nurses collaborating during the provision of birthing care. Experiences, of any duration, included any interactions between midwives and nurses working in collaboration to provide birthing care.Birthing care referred to: (a) supportive care throughout the pregnancy, labor, delivery and postpartum, (b) administrative tasks throughout the pregnancy, labor, delivery and postpartum, and (c) clinical skills throughout the pregnancy, labor, delivery and postpartum. The postpartum period included the six weeks after delivery.The review considered English language studies that focused on qualitative data including, but not limited to, designs such as phenomenology, grounded theory, ethnography, action research and feminist research.This review considered qualitative studies that explored the experiences of collaboration in areas where midwives and nurses work together. Examples of these areas included: hospitals, birth centers, client homes, health clinics and other public or community health settings. These settings were located in any country, cultural context, or geographical location. A three-step search strategy was used to identify relevant published and unpublished studies. English papers from 1981 onwards were considered. The following databases were searched: Anthrosource, CENTRAL (The Cochrane Library), CINAHL, EMBASE, PsycINFO, PubMed, Social Services Abstracts and Sociological Abstracts. In addition to the databases, several grey literature sources were searched. Papers that were selected for retrieval were independently assessed for inclusion in the review by two JBI-trained reviewers. The two reviewers used a standardized critical appraisal instrument from the Joanna Briggs Institute Qualitative Assessment and Review Instrument. Qualitative data were extracted from papers included in the review using the standardized data extraction tool from the Joanna Briggs Institute Qualitative Assessment and Review Instrument. Once qualitative studies were assessed using the the Joanna Briggs Institute Qualitative Assessment and Review Instrument critical appraisal tool, findings of the included studies were extracted. These findings were aggregated into categories according to their similarity in meaning. These categories were then subjected to a meta-synthesis to produce a comprehensive set of synthesized findings. Five studies were included in the review. Thirty-eight findings were extracted from the included studies and were aggregated into five categories. The five categories were synthesized into two synthesized findings. The two synthesized findings were:Synthesized finding1: Negative experiences of collaboration between nurses and midwives may be influenced by distrust, lack of clear roles, or unprofessional or inconsiderate behavior.Synthesized finding 2: If midwives and nurses have positive experiences collaborating thenthere is hope that the challenges of collaboration can be overcome. Qualitative evidence about the experiences of midwives and nurses collaborating to provide birthing care was identified, appraised and synthesized. Two synthesized findings were created from the findings of the five included studies. Midwives and nurses had negative experiences of collaboration which may be influenced by: distrust, unclear roles, or a lack of professionalism or consideration. Midwives and nurses had positive experiences of teamwork which can be a source of hope for overcoming the challenges of sharing care.There is clearly a gap in the literature about the collaborative experiences of midwives and nurses, given that only five studies were located for inclusion in the systematic review. More qualitative research exploring collaboration as a process and the interactional dynamics of midwives and nurses in a variety of practice and professional contexts is required.Distrust, unclear roles, and lack of professionalism and consideration must all be addressed. Strategies that address and minimize the occurrences of these three elements need to be developed and implemented in an effort to reduce negative collaborative experiences for midwives and nurses. Postive experiences of teamwork must be acknowleged and celebrated, and the challenges that sharing care present must be understood as a part of the collaborative process.More qualitative research is required to explore the collaborative process between midwives and nurses. Further exploration of their interactional dynamics, their relationship between power and collaboration, and the experiences of collaboration in a variety of professional and practice contexts is recommended.

  6. Nurses' and Physicians' Perceptions of Nurse-Physician Collaboration: A Systematic Review.

    PubMed

    House, Sherita; Havens, Donna

    2017-03-01

    The purpose of this systematic review was to explore nurses' and physicians' perceptions of nurse-physician collaboration and the factors that influence their perceptions. Overall, nurses and physicians held different perceptions of nurse-physician collaboration. Shared decision making, teamwork, and communication were reoccurring themes in reports of perceptions about nurse-physician collaboration. These findings have implications for more interprofessional educational courses and more intervention studies that focus on ways to improve nurse-physician collaboration.

  7. Interdisciplinary, interinstitutional and international collaboration of family medicine researchers in Taiwan.

    PubMed

    Lin, Yi-Hsuan; Tseng, Yen-Han; Chang, Hsiao-Ting; Lin, Ming-Hwai; Tseng, Yen-Chiang; Chen, Tzeng-Ji; Hwang, Shinn-Jang

    2015-01-01

    The family medicine researches flourished worldwide in the past decade. However, the collaborative patterns of family medicine publications had not been reported. Our study analyzed the collaborative activity of family medicine researchers in Taiwan. We focused on the types of collaboration among disciplines, institutions and countries. We searched "family medicine" AND "Taiwan" in address field from Web of Science and documented the disciplines, institutions and countries of all authors. We analyzed the collaborative patterns of family medicine researchers in Taiwan from 2010 to 2014. The journal's impact factor of each article in the same publication year was also retrieved. Among 1,217 articles from 2010 to 2014, interdisciplinary collaboration existed in 1,185 (97.3%) articles, interinstitutional in 1,012 (83.2%) and international in 142 (11.7%). Public health was the most common collaborative discipline. All international researches were also interdisciplinary and interinstitutional. The United States (75 articles), the United Kingdom (21) and the People's Republic of China (20) were the top three countries with which family medicine researchers in Taiwan had collaborated. We found a high degree of interdisciplinary and interinstitutional collaboration of family medicine researches in Taiwan. However, the collaboration of family medicine researchers in Taiwan with family medicine colleagues of other domestic or foreign institutions was insufficient. The future direction of family medicine studies could focus on the promotion of communication among family medicine researchers.

  8. Collaboration, Communication and Co-ordination in Agile Software Development Practice

    NASA Astrophysics Data System (ADS)

    Robinson, Hugh; Sharp, Helen

    This chapter analyses the results of a series of observational studies of agile software developmentagile software development teams, identifying commonalities in collaboration, co-ordination and communication activities. Pairing and customer collaborationcustomer collaboration are focussed on to illustrate the nature of collaboration and communication, as are two simple physical artefacts that emerged through analysis as being an information-rich focal point for the co-ordination of collaboration and communication activities. The analysis shows that pairingpairing has common characteristics across all teams, while customer collaboration differs between the teams depending on the application and organisational context of development.

  9. Understanding Motivators and Challenges to Involving Urban Parents as Collaborators in HIV Prevention Research Efforts.

    PubMed

    McKay, Mary M; Pinto, Rogério M; Bannon, William M; Guilamo-Ramos, Vincent

    2007-01-01

    This study was designed to explore the experiences of urban parents in their role as Collaborative Board members as part of the CHAMP (Collaborative HIV prevention and Adolescent Mental health Project) Family Program Study. The CHAMP Collaborative Board is comprised of urban parents, representatives from schools and community-based agencies and university-based researchers and is charged with overseeing the design, delivery and testing of a family-based HIV prevention program for pre and early adolescent youth. The current qualitative study, guided by the Theory of Unified Behavior Change, is meant to elucidate: (1) pathways to involvement by urban parents; (2) benefits and costs of participating in this collaborative HIV prevention research effort; and (3) the role of social relationships in influencing initial and ongoing participation by parent participants. Twenty-nine parent Collaborative Board members were interviewed for this study. In-depth interviews were audio recorded and ranged from 30 to 90 minutes in length. Transcripts were coded and analyzed using NUD*IST, computerized software used for examining narratives. Findings include community parent members identifying social support and learning opportunities as major reasons for involvement with the Collaborative Board. Prior involvement with other community-based projects and knowledge of at least one other person on the Board also influenced members to join the Board and remain involved over time. Further, recommendations for future collaborative partnerships are made. Findings have direct implication for participatory HIV prevention research activities.

  10. Delivering team training to medical home staff to impact perceptions of collaboration.

    PubMed

    Treadwell, Janet; Binder, Brenda; Symes, Lene; Krepper, Rebecca

    2015-01-01

    The purpose of this study was to explore whether an evidence-based educational and experiential intervention to develop team skills in medical homes would positively affect team members' perceptions of interprofessional collaboration. The study population consisted of primary care medical home practices associated with the health plan sponsor of this research. All practices were located within the greater Houston region of Texas and had more than 500 patients. A cluster design experimental study was conducted between August 2013 and June 2014. Fifty medical home practices, 25 intervention and 25 attention control, were recruited as study sites. Results indicate that individual team members in the medical homes receiving the intervention were significantly more likely than the individual team members in the attention control groups to report higher levels of positive perception of team collaboration after the 12-week intervention. This research indicates that educating teams about interprofessional collaboration tools and supporting technique use may be an effective strategy to assist medical homes in developing collaborative environments. Case management experience in collaboration supports the role facilitating team training. Transforming culture from hierarchical to team-based care supports the case management approach of collaborative practice. In addition, role satisfaction attained through the respect and communication of team-based care delivery may influence retention within the case management profession. As case managers in primary care settings assume roles of embedded care coordinators, program leaders, and transition facilitators, an understanding of collaboration techniques is needed to support the entire care team to achieve desired outcomes.

  11. A study on haptic collaborative game in shared virtual environment

    NASA Astrophysics Data System (ADS)

    Lu, Keke; Liu, Guanyang; Liu, Lingzhi

    2013-03-01

    A study on collaborative game in shared virtual environment with haptic feedback over computer networks is introduced in this paper. A collaborative task was used where the players located at remote sites and played the game together. The player can feel visual and haptic feedback in virtual environment compared to traditional networked multiplayer games. The experiment was desired in two conditions: visual feedback only and visual-haptic feedback. The goal of the experiment is to assess the impact of force feedback on collaborative task performance. Results indicate that haptic feedback is beneficial for performance enhancement for collaborative game in shared virtual environment. The outcomes of this research can have a powerful impact on the networked computer games.

  12. A Multiple-Case Study of Intersectoral Collaboration in Comprehensive School Health Promotion Using the Diagnosis of Sustainable Collaboration (DISC) Model

    ERIC Educational Resources Information Center

    Pucher, K. K.; Candel, M. J. J. M.; Boot, N. M. W. M.; van Raak, A. J. A.; de Vries, N. K.

    2015-01-01

    Purpose: Intersectoral collaboration is often a prerequisite for effective interventions in public health. The purpose of this paper is to assess the facilitating and hindering conditions regarding intersectoral collaboration between health authorities, public health services (PHSs), public services stakeholders (PPSs) and the education sector in…

  13. Examining the Emergence of Large-Scale Structures in Collaboration Networks: Methods in Sociological Analysis

    ERIC Educational Resources Information Center

    Ghosh, Jaideep; Kshitij, Avinash

    2017-01-01

    This article introduces a number of methods that can be useful for examining the emergence of large-scale structures in collaboration networks. The study contributes to sociological research by investigating how clusters of research collaborators evolve and sometimes percolate in a collaboration network. Typically, we find that in our networks,…

  14. Evaluation of a collaborative model: a case study analysis of watershed planning in the intermountain west

    Treesearch

    Gary Bentrup

    2001-01-01

    Collaborative planning processes have become increasingly popular for addressing environmental planning issues, resulting in a number of conceptual models for collaboration. A model proposed by Selin and Chavez suggests that collaboration emerges from a series of antecedents and then proceeds sequentially through problem-setting, direction-setting, implementation, and...

  15. A Typology of Research Training in University-Industry Collaboration: The Case of Life Sciences in Finland

    ERIC Educational Resources Information Center

    Chiang, Kuang-Hsu

    2011-01-01

    This paper examines the educational implications of research collaboration between university and industry for the research training of doctoral students. It is concerned with the issues of how research training is constructed in such collaborations and what might be the effects of collaboration on doctoral students' learning. The study adopts a…

  16. Student Perceptions and Performance in Online and Offline Collaboration in an Interior Design Studio

    ERIC Educational Resources Information Center

    Cho, Ji Young; Cho, Moon-Heum

    2014-01-01

    Competence in collaboration is one of the critical abilities that interior design majors are expected to develop during the course of their education; however, few students are competent to collaborate with others online. The purposes of this study were to identify student perceptions and performance in online collaboration compared to those of…

  17. A Typology of Knowledge Collaboration: A Case Study of an Initiative to Accelerate the Internationalization of Finnish Cleantech Entrepreneurship

    ERIC Educational Resources Information Center

    Vauterin, Johanna Julia; Virkki-Hatakka, Terhi

    2016-01-01

    A critical understanding of how knowledge collaboration may work in various configurations is a prerequisite in shedding light on how effective knowledge collaboration affects opportunities for business growth. This article presents a case analysis of a knowledge collaboration initiative between a university and other knowledge organizations. The…

  18. Allocation of Resources to Collaborators and Free-Riders in 3-Year-Olds

    ERIC Educational Resources Information Center

    Melis, Alicia P.; Altrichter, Kristin; Tomasello, Michael

    2013-01-01

    Recent studies have shown that in situations where resources have been acquired collaboratively, children at around 3 years of age share mostly equally. We investigated 3-year-olds' sharing behavior with a collaborating partner and a free-riding partner who explicitly expressed her preference not to collaborate. Children shared more equally with…

  19. The Heart and the Journey: Case Studies of Collaboration for Arts Integrated Curricula

    ERIC Educational Resources Information Center

    Strand, Katherine

    2006-01-01

    The purpose of this article is to begin to articulate a model for collaborative arts integration curricula that honor the value of creative and critical thinking in the arts. It presents both challenges and possibilities in collaborations between arts and nonarts organizations and teachers by examining two collaborative programs: (1) A Theater…

  20. The Effects of Collaborative Writing Activity Using Google Docs on Students' Writing Abilities

    ERIC Educational Resources Information Center

    Suwantarathip, Ornprapat; Wichadee, Saovapa

    2014-01-01

    Google Docs, a free web-based version of Microsoft Word, offers collaborative features which can be used to facilitate collaborative writing in a foreign language classroom. The current study compared writing abilities of students who collaborated on writing assignments using Google Docs with those working in groups in a face-to-face classroom.…

  1. "A Guided Walk in the Woods": Boundary Crossing in a Collaborative Action Research Project

    ERIC Educational Resources Information Center

    Jacobs, Gaby

    2017-01-01

    This article discusses the ideal and practice of collaboration in a collaborative action research project in which university researchers work together with staff from the field of primary education. A qualitative case study was conducted using the theory of boundary crossing to make sense of the ways collaboration took place within the project…

  2. Examining What We Mean by "Collaboration" in Collaborative Action Research: A Cross-Case Analysis

    ERIC Educational Resources Information Center

    Bruce, Catherine D.; Flynn, Tara; Stagg-Peterson, Shelley

    2011-01-01

    The purpose of this paper is to report on the nature of collaboration in a multi-year, large-scale collaborative action research project in which a teachers' federation (in Ontario, Canada), university researchers and teachers partnered to investigate teacher-selected topics for inquiry. Over two years, 14 case studies were generated involving six…

  3. Perception of Interprofessional Collaboration and Co-Location of Specialists and Primary Care Teams in Youth Mental Health

    PubMed Central

    Rousseau, Cécile; Pontbriand, Annie; Nadeau, Lucie; Johnson-Lafleur, Janique

    2017-01-01

    Objectives Interprofessional collaboration is a cornerstone of youth mental health collaborative care models. This article presents quantitative results from a mixed-methods study. It analyses the organizational predictors of the perception of interprofessional collaboration of professionals comparing two models of services within recently constituted youth mental health collaborative care teams. Methods Professionals (n=104) belonging to six health and social services institutions completed an online survey measuring their perceptions of interprofessional collaboration through a validated questionnaire, the PINCOM-Q. Results Results suggest that the integrated model of collaborative care in which specialized resources are co-located with the primary care teams is the main significant predictor of positive perception of interprofessional collaborations in the youth mental health team. Conclusion More research on the relation between service delivery models and interprofessional relations could help support the successful implementation of collaborative care in youth mental health. PMID:29056982

  4. Collaboration between practice, policy and research in local public health in the Netherlands.

    PubMed

    Jansen, Maria W J; De Vries, Nanne K; Kok, Gerjo; Van Oers, Hans A M

    2008-05-01

    The collaboration between policy, practice, and research in local public health was studied in a multiple case study. The assumption is that collaboration will result in more solid evidence and higher quality standards in public health. First, collaboration barriers were studied by analysing the work cycles of the three domains, which are considered to operate as niches. Actors at the administrative, institutional, and individual levels were identified. Theories that describe processes of the convergence of the three niches through practical strategies were sought. Finally, the application of the practical strategies in six cases was evaluated. When administrative, institutional, and individual changes develop in a similar fashion and in parallel with each other, the likelihood of successful collaboration that goes beyond the initial period is greater. The findings suggest that organisational development (OD) strategies that address collaboration at the institutional level make a relatively strong contribution. Top level consultations just after local elections, investments in OD strategies and a new kind of accountability in public health are recommended. The assumption that successful collaboration contributes to enhanced effectiveness, efficiency, and efficacy of public health could not yet be unequivocally confirmed.

  5. Barriers and facilitators experienced in collaborative prospective research in orthopaedic oncology: A qualitative study.

    PubMed

    Rendon, J S; Swinton, M; Bernthal, N; Boffano, M; Damron, T; Evaniew, N; Ferguson, P; Galli Serra, M; Hettwer, W; McKay, P; Miller, B; Nystrom, L; Parizzia, W; Schneider, P; Spiguel, A; Vélez, R; Weiss, K; Zumárraga, J P; Ghert, M

    2017-05-01

    As tumours of bone and soft tissue are rare, multicentre prospective collaboration is essential for meaningful research and evidence-based advances in patient care. The aim of this study was to identify barriers and facilitators encountered in large-scale collaborative research by orthopaedic oncological surgeons involved or interested in prospective multicentre collaboration. All surgeons who were involved, or had expressed an interest, in the ongoing Prophylactic Antibiotic Regimens in Tumour Surgery (PARITY) trial were invited to participate in a focus group to discuss their experiences with collaborative research in this area. The discussion was digitally recorded, transcribed and anonymised. The transcript was analysed qualitatively, using an analytic approach which aims to organise the data in the language of the participants with little theoretical interpretation. The 13 surgeons who participated in the discussion represented orthopaedic oncology practices from seven countries (Argentina, Brazil, Italy, Spain, Denmark, United States and Canada). Four categories and associated themes emerged from the discussion: the need for collaboration in the field of orthopaedic oncology due to the rarity of the tumours and the need for high level evidence to guide treatment; motivational factors for participating in collaborative research including establishing proof of principle, learning opportunity, answering a relevant research question and being part of a collaborative research community; barriers to participation including funding, personal barriers, institutional barriers, trial barriers, and administrative barriers and facilitators for participation including institutional facilitators, leadership, authorship, trial set-up, and the support of centralised study coordination. Orthopaedic surgeons involved in an ongoing international randomised controlled trial (RCT) were motivated by many factors to participate. There were a number of barriers to and facilitators for their participation. There was a collective sense of fatigue experienced in overcoming these barriers, which was mirrored by a strong collective sense of the importance of, and need for, collaborative research in this field. The experiences were described as essential educational first steps to advance collaborative studies in this area. Knowledge gained from this study will inform the development of future large-scale collaborative research projects in orthopaedic oncology. Cite this article: J. S. Rendon, M. Swinton, N. Bernthal, M. Boffano, T. Damron, N. Evaniew, P. Ferguson, M. Galli Serra, W. Hettwer, P. McKay, B. Miller, L. Nystrom, W. Parizzia, P. Schneider, A. Spiguel, R. Vélez, K. Weiss, J. P. Zumárraga, M. Ghert. Barriers and facilitators experienced in collaborative prospective research in orthopaedic oncology: A qualitative study. Bone Joint Res 2017;6:-314. DOI: 10.1302/2046-3758.65.BJR-2016-0192.R1. © 2017 Ghert et al.

  6. Needs and barriers to improve the collaboration in oral anticoagulant therapy: a qualitative study

    PubMed Central

    2011-01-01

    Background Oral anticoagulant therapy (OAT) involves many health care disciplines. Even though collaboration between care professionals is assumed to improve the quality of OAT, very little research has been done into the practice of OAT management to arrange and manage the collaboration. This study aims to identify the problems in collaboration experienced by the care professionals involved, the solutions they proposed to improve collaboration, and the barriers they encountered to the implementation of these solutions. Methods In the Netherlands, intensive follow-up of OAT is provided by specialized anticoagulant clinics (ACs). Sixty-eight semi-structured face-to-face interviews were conducted with 103 professionals working at an AC. These semi-structured interviews were transcribed verbatim and analysed inductively. Wagner's chronic care model (CCM) and Cabana's framework for improvement were used to categorize the results. Results AC professionals experienced three main bottlenecks in collaboration: lack of knowledge (mostly of other professionals), lack of consensus on OAT, and limited information exchange between professionals. They mentioned several solutions to improve collaboration, especially solutions of CCM's decision support component (i.e. education, regular meetings, and agreements and protocols). Education is considered a prerequisite for the successful implementation of other proposed solutions such as developing a multidisciplinary protocol and changing the allocation of tasks. The potential of the health care organization to improve collaboration seemed to be underestimated by professionals. They experienced several barriers to the successful implementation of the proposed solutions. Most important barriers were the lack motivation of non-AC professionals and lack of time to establish collaboration. Conclusions This study revealed that the collaboration in OAT is limited by a lack of knowledge, a lack of consensus, and a limited information exchange. Education was identified as the best way to improve collaboration and considered a prerequisite for a successful implementation of other proposed solutions. Hence, the implementation sequence is of importance in order to improve the collaboration successfully. First step is to establish alignment regarding collaboration with all involved professionals to encounter the lack of motivation of non-AC professionals and lack of time. PMID:22192088

  7. Teaching scientific literacy in an introductory women's studies course: a case study in interdisciplinary collaboration

    NASA Astrophysics Data System (ADS)

    Fuselier, Linda; Murphy, Claudia; Bender, Anita; Creel Falcón, Kandace

    2015-01-01

    Background and purpose:The purpose of this exploratory case study is to describe how scholars negotiated disciplinary divides to develop and communicate to their students an understanding of the basic features of scientific knowledge. Our goals were to examine boundary crossing in interdisciplinary collaboration and to assess the efficacy of adding science content to an introductory Women's Studies course. Sample:We studied a collaboration between faculty in Biology and Women's Studies and evaluated science modules in a Women's Studies course at a regional four-year university in the Midwestern USA. The study included 186 student participants over three semesters and four faculty from Philosophy, Women's Studies and Biology. Design and method:Women's Studies and Biology faculty collaborated to design and implement science content learning modules that included the case of women and science in an introductory Women's Studies course. Qualitative data collected from faculty participants in the form of peer debrief sessions and narrative reflections were used to examine the process of interdisciplinary collaboration. Students exposed to curriculum changes were administered pre- and post-lesson surveys to evaluate their understanding of issues faced by women in science careers, the nature of science, and interest in science studies. Data from collaborators, student journal reflections, and pre-/post-lesson surveys were considered together in an evaluation of how knowledge of science was understood and taught in a Women's Studies course over a longitudinal study of three semesters. Results:We found evidence of discipline-based challenges to interdisciplinarity and disciplinary boundary crossing among collaborators. Three themes emerged from our collaboration: challenges posed by disciplinary differences, creation of a space for interdisciplinary work, and evidence of boundary crossing. Student participants exhibited more prior knowledge of Women's Studies content than nature of science but showed learning in the areas of scientific literacy and the understanding of issues related to women in science careers. Student understanding of science content was enhanced by the participation of a woman scientist in the learning module. Conclusion:This case study illustrates how creating an inclusive space for interdisciplinary collaboration led to successful curriculum transformation and academic boundary crossing by faculty participants. Success is evident in the legacy of interdisciplinarity in the curriculum and learning gains by students. Use of a feminist science studies framework was successful at helping students learn about the influence of values on science and the tentative nature of scientific conclusions. It was less successful in teaching the distinction between science and other ways of knowing and the conception that science is an evidence-based approach to understanding the natural world. This study highlights the importance of interdisciplinary teams of faculty members collaborating to help students learn about science by modeling that there are multiple ways of knowing.

  8. Global scientific collaboration in COPD research

    PubMed Central

    Su, Yanbing; Long, Chao; Yu, Qi; Zhang, Juan; Wu, Daisy; Duan, Zhiguang

    2017-01-01

    Purpose This study aimed to investigate the multiple collaboration types, quantitatively evaluate the publication trends and review the performance of institutions or countries (regions) across the world in COPD research. Materials and methods Scientometric methods and social network analysis were used to survey the development of publication trends and understand current collaboration in the field of COPD research based on the Web of Science publications during the past 18 years. Results The number of publications developed through different collaboration types has increased. Growth trends indicate that the percentage of papers authored through multinational and domestic multi-institutional collaboration (DMIC) have also increased. However, the percentage of intra-institutional collaboration and single-authored (SA) studies has reduced. The papers that produced the highest academic impact result from international collaboration. The second highest academic impact papers are produced by DMIC. Out of the three, the papers that are produced by SA studies have the least amount of impact upon the scientific community. A handful of internationally renowned institutions not only take the leading role in the development of the research within their country (region) but also play a crucial role in international research collaboration in COPD. Both the amount of papers produced and the amount of cooperation that occurs in each study are disproportionally distributed between high-income countries (regions) and low-income countries (regions). Growing attention has been generated toward research on COPD from more and more different academic domains. Conclusion Despite the rapid development in COPD research, collaboration in the field of COPD research still has room to grow, especially between different institutions or countries (regions), which would promote the progress of global COPD research. PMID:28123294

  9. A Journey into Collaborative Leadership: Moving toward Innovation and Adaptability

    ERIC Educational Resources Information Center

    Otter, Ken; Paxton, Doug

    2017-01-01

    This case study explores the journey of an executive leadership team seeking to become more collaborative, innovative, and adaptive in their approach to organizational leadership, using a values-based collaborative leadership program.

  10. Health care professionals' and students' attitude toward collaboration between pharmacists and physicians in Croatia.

    PubMed

    Seselja-Perisin, Ana; Mestrovic, Arijana; Klinar, Ivana; Modun, Darko

    2016-02-01

    As traditional roles of pharmacists and physicians seem nowadays insufficient to ensure patient safety and therapy effectiveness, interprofessional collaboration has been suggested to improve health outcomes. To assess and compare the attitudes of physicians and pharmacists, as well as medical and pharmacy students in Croatia, toward interprofessional collaboration in primary health care. The study included 513 pharmacists and physicians, and 365 students of pharmacy and medicine from Croatia. The validated questionnaire, Scale of Attitudes Toward Physician–Pharmacist Collaboration, was translated in Croatian and completed, anonymously and voluntarily, by all participants. Results Pharmacists showed a more positive attitude toward collaboration than physicians (53.8 ± 4.8 vs. 50.7 ± 5.0). Pharmacy students expressed the most positive attitude (56.2 ± 4.9), while medical students showed the remarkably lowest attitude toward collaboration (44.6 ± 6.2). Pharmacists and physicians in Croatia expressed a relatively positive attitude toward their collaboration, comparable with their colleges in the USA. On the other hand, medical students expressed a 21 % less positive attitude than pharmacy students which could have an effect on interprofessional collaboration in the future when those students start working as health care professionals. Future studies, focusing on the promotion of this collaboration, on both under-graduated and post-graduated level, are warranted.

  11. Factors driving collaboration in natural resource conflict management: Evidence from Romania.

    PubMed

    Hossu, Constantina Alina; Ioja, Ioan Cristian; Susskind, Lawrence E; Badiu, Denisa L; Hersperger, Anna M

    2018-02-03

    A critical challenge in natural resource management is to bring all stakeholders together to negotiate solutions to critical problems. However, various collaborative approaches to heading off conflicts and resolving natural resource management disputes have been used. What drives these efforts, however, still needs further research. Our study provides a systematic look at the drivers likely to initiate collaborative problem-solving efforts in four cases in Romania. We use Emerson's et al. (2012) framework for collaborative governance and multi-value qualitative comparative analysis (mvQCA) to analyze cases involving endangered species, restrictions on forest harvest, conflicts associated with infrastructure development projects, and disputes over the management of environmentally sensitive areas. Our findings contribute to the already existing collaborative governance literature indicating which of the four factors: uncertainty, interdependence, consequential incentives, and leadership, in which combination, are necessary and sufficient to spur collaborative resource management efforts. Our results showed that in Romania the initiation of collaboration is best explained by positive consequential incentives (i.e., financial opportunities) which has determined leaders to take initiative. This study provides additional information for the complicated process of natural resource management which is often overriding collaboration by investigating what enables and constrains collaborative efforts in a country where natural resources were managed and used according to the principles of central planning.

  12. Facilitative Components of Collaborative Learning: A Review of Nine Health Research Networks

    PubMed Central

    Rittner, Jessica Levin; Johnson, Karin E.; Gerteis, Jessie; Miller, Therese

    2017-01-01

    Objective: Collaborative research networks are increasingly used as an effective mechanism for accelerating knowledge transfer into policy and practice. This paper explored the characteristics and collaborative learning approaches of nine health research networks. Data sources/study setting: Semi-structured interviews with representatives from eight diverse US health services research networks conducted between November 2012 and January 2013 and program evaluation data from a ninth. Study design: The qualitative analysis assessed each network's purpose, duration, funding sources, governance structure, methods used to foster collaboration, and barriers and facilitators to collaborative learning. Data collection: The authors reviewed detailed notes from the interviews to distill salient themes. Principal findings: Face-to-face meetings, intentional facilitation and communication, shared vision, trust among members and willingness to work together were key facilitators of collaborative learning. Competing priorities for members, limited funding and lack of long-term support and geographic dispersion were the main barriers to coordination and collaboration across research network members. Conclusion: The findings illustrate the importance of collaborative learning in research networks and the challenges to evaluating the success of research network functionality. Conducting readiness assessments and developing process and outcome evaluation metrics will advance the design and show the impact of collaborative research networks. PMID:28277202

  13. Collaborative agency to support integrated care for children, young people and families: an action research study

    PubMed Central

    Stuart, Kaz

    2014-01-01

    Abstract Introduction Collaboration was legislated in the delivery of integrated care in the early 2000s in the UK. This research explored how the reality of practice met the rhetoric of collaboration. Theory The paper is situated against a theoretical framework of structure, agency, identity and empowerment. Collectively and contextually these concepts inform the proposed model of ‘collaborative agency’ to sustain integrated care. The paper brings sociological theory on structure and agency to the dilemma of collaboration. Methods Participative action research was carried out in collaborative teams that aspired to achieve integrated care for children, young people and families between 2009 and 2013. It was a part time, PhD study in collaborative practice. Results The research established that people needed to be able to be jointly aware of their context, to make joint decisions, and jointly act in order to deliver integrated services, and proposes a model of collaborative agency derived from practitioner’s experiences and integrated action research and literature on agency. The model reflects the effects of a range of structures in shaping professional identity, empowerment, and agency in a dynamic. The author proposes that the collaborative agency model will support integrated care, although this is, as yet, an untested hypothesis. PMID:24868192

  14. Social competence and collaborative guided inquiry science activities: Experiences of students with learning disabilities

    NASA Astrophysics Data System (ADS)

    Taylor, Jennifer Anne

    This thesis presents a qualitative investigation of the effects of social competence on the participation of students with learning disabilities (LD) in the science learning processes associated with collaborative, guided inquiry learning. An inclusive Grade 2 classroom provided the setting for the study. Detailed classroom observations were the primary source of data. In addition, the researcher conducted two interviews with the teacher, and collected samples of students' written work. The purpose of the research was to investigate: (a) How do teachers and peers mediate the participation of students with LD in collaborative, guided inquiry science activities, (b) What learning processes do students with LD participate in during collaborative, guided inquiry science activities, and (c) What components of social competence support and constrain the participation of students with LD during collaborative, guided inquiry science activities? The findings of the study suggest five key ideas for research and teaching in collaborative, guided inquiry science in inclusive classrooms. First, using a variety of collaborative learning formats (whole-class, small-group, and pairs) creates more opportunities for the successful participation of diverse students with LD. Second, creating an inclusive community where students feel accepted and valued may enhance the academic and social success of students with LD. Third, careful selection of partners for students with LD is important for a positive learning experience. Students with LD should be partnered with academically successful, socially competent peers; also, this study suggested that students with LD experience more success working collaboratively in pairs rather than in small groups. Fourth, a variety of strategies are needed to promote active participation and positive social interactions for students with and without LD during collaborative, guided inquiry learning. Fifth, adopting a general approach to teaching collaborative inquiry that crosses curriculum borders may enhance success of inclusive teaching practices.

  15. International stem cell collaboration: how disparate policies between the United States and the United Kingdom impact research.

    PubMed

    Luo, Jingyuan; Flynn, Jesse M; Solnick, Rachel E; Ecklund, Elaine Howard; Matthews, Kirstin R W

    2011-03-08

    As the scientific community globalizes, it is increasingly important to understand the effects of international collaboration on the quality and quantity of research produced. While it is generally assumed that international collaboration enhances the quality of research, this phenomenon is not well examined. Stem cell research is unique in that it is both politically charged and a research area that often generates international collaborations, making it an ideal case through which to examine international collaborations. Furthermore, with promising medical applications, the research area is dynamic and responsive to a globalizing science environment. Thus, studying international collaborations in stem cell research elucidates the role of existing international networks in promoting quality research, as well as the effects that disparate national policies might have on research. This study examined the impact of collaboration on publication significance in the United States and the United Kingdom, world leaders in stem cell research with disparate policies. We reviewed publications by US and UK authors from 2008, along with their citation rates and the political factors that may have contributed to the number of international collaborations. The data demonstrated that international collaborations significantly increased an article's impact for UK and US investigators. While this applied to UK authors whether they were corresponding or secondary, this effect was most significant for US authors who were corresponding authors. While the UK exhibited a higher proportion of international publications than the US, this difference was consistent with overall trends in international scientific collaboration. The findings suggested that national stem cell policy differences and regulatory mechanisms driving international stem cell research in the US and UK did not affect the frequency of international collaborations, or even the countries with which the US and UK most often collaborated. Geographical and traditional collaborative relationships were the predominate considerations in establishing international collaborations.

  16. International Stem Cell Collaboration: How Disparate Policies between the United States and the United Kingdom Impact Research

    PubMed Central

    Solnick, Rachel E.; Ecklund, Elaine Howard; Matthews, Kirstin R. W.

    2011-01-01

    As the scientific community globalizes, it is increasingly important to understand the effects of international collaboration on the quality and quantity of research produced. While it is generally assumed that international collaboration enhances the quality of research, this phenomenon is not well examined. Stem cell research is unique in that it is both politically charged and a research area that often generates international collaborations, making it an ideal case through which to examine international collaborations. Furthermore, with promising medical applications, the research area is dynamic and responsive to a globalizing science environment. Thus, studying international collaborations in stem cell research elucidates the role of existing international networks in promoting quality research, as well as the effects that disparate national policies might have on research. This study examined the impact of collaboration on publication significance in the United States and the United Kingdom, world leaders in stem cell research with disparate policies. We reviewed publications by US and UK authors from 2008, along with their citation rates and the political factors that may have contributed to the number of international collaborations. The data demonstrated that international collaborations significantly increased an article's impact for UK and US investigators. While this applied to UK authors whether they were corresponding or secondary, this effect was most significant for US authors who were corresponding authors. While the UK exhibited a higher proportion of international publications than the US, this difference was consistent with overall trends in international scientific collaboration. The findings suggested that national stem cell policy differences and regulatory mechanisms driving international stem cell research in the US and UK did not affect the frequency of international collaborations, or even the countries with which the US and UK most often collaborated. Geographical and traditional collaborative relationships were the predominate considerations in establishing international collaborations. PMID:21408134

  17. Do action learning sets facilitate collaborative, deliberative learning?: A focus group evaluation of Graduate Entry Pre-registration Nursing (GEN) students' experience.

    PubMed

    Maddison, Charlotte; Strang, Gus

    2018-01-01

    The aim of this study was to investigate if by participating in action learning sets, Graduate Entry Pre-registration Nursing (GEN) students were able to engage in collaborative and deliberative learning. A single focus group interview involving eleven participants was used to collect data. Data analysis identified five themes; collaborative learning; reflection; learning through case study and problem-solving; communication, and rejection of codified learning. The themes are discussed and further analysed in the context of collaborative and deliberative learning. The evidence from this small scale study suggests that action learning sets do provide an environment where collaborative and deliberative learning can occur. However, students perceived some of them, particularly during year one, to be too 'teacher lead', which stifled learning. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. A Case Study on Moving Philosophically Diverse Funders to Common Priorities. Education Funders Research Initiative

    ERIC Educational Resources Information Center

    Hilliard, Thomas J.

    2015-01-01

    Collaboration is a recurring theme among philanthropic funders and their grantees. Most funders have engaged in collaboration at some level. A few collaborations achieve outstanding success and are lionized in case studies. Others break up without conclusion or fall short of their original mission and are tactfully forgotten. One standard…

  19. User-Centered Iterative Design of a Collaborative Virtual Environment

    DTIC Science & Technology

    2001-03-01

    cognitive task analysis methods to study land navigators. This study was intended to validate the use of user-centered design methodologies for the design of...have explored the cognitive aspects of collaborative human way finding and design for collaborative virtual environments. Further investigation of design paradigms should include cognitive task analysis and behavioral task analysis.

  20. Collaborative Writing among Second Language Learners in Academic Web-Based Projects

    ERIC Educational Resources Information Center

    Kessler, Greg; Bikowski, Dawn; Boggs, Jordan

    2012-01-01

    This study investigates Web-based, project oriented, many-to-many collaborative writing for academic purposes. Thirty-eight Fulbright scholars in an orientation program at a large Midwestern university used a Web-based word processing tool to collaboratively plan and report on a research project. The purpose of this study is to explore and…

  1. Collaborative Teaching: How Does It Work in a Graduate TEFL Class?

    ERIC Educational Resources Information Center

    Khabiri, Mona; Marashi, Hamid

    2016-01-01

    Collaborative teaching is a dynamic process in which educators are continuously engaged in restrategizing to fit their curricular goal. This article aims to describe how the use of collaborative teaching in a course on proposal writing benefited a group of graduate students studying teaching English as a foreign language. Throughout the study, two…

  2. "It's an Amazing Learning Curve to Be Part of the Project": Exploring Academic Identity in Collaborative Research

    ERIC Educational Resources Information Center

    Leibowitz, Brenda; Ndebele, Clever; Winberg, Christine

    2014-01-01

    This article reports on an investigation into the role of academic identity within collaborative research in higher education in South Africa. The study was informed by the literature on academic identities, collaborative research and communities of practice. It was located within a multi-site study, with involvement of researcher collaborators…

  3. The Comparison of Solitary and Collaborative Modes of Game-Based Learning on Students' Science Learning and Motivation

    ERIC Educational Resources Information Center

    Chen, Ching-Huei; Wang, Kuan-Chieh; Lin, Yu-Hsuan

    2015-01-01

    In this study, we investigated and compared solitary and collaborative modes of game-based learning in promoting students' science learning and motivation. A total of fifty seventh grade students participated in this study. The results showed that students who played in a solitary or collaborative mode demonstrated improvement in learning…

  4. Collaborative Technology. An Examination of Adults' Concurrent Use of Technology and Collaboration.

    ERIC Educational Resources Information Center

    Hill, Janice J.

    A qualitative study examined what happens to the learning environment when a heterogeneous group of male adults uses technology and collaborative strategies to improve their writing skills. During the 14-week study, the teacher modeled the use of technology when introducing units in a writing course and used the abilities and strengths of the…

  5. Exploring Collaboration between Teachers and the School Library Information Specialist on the Instructional Design of Curriculum

    ERIC Educational Resources Information Center

    Allen, Lorraine

    2013-01-01

    The purpose of this research was to provide a qualitative study exploring the collaboration between three teachers and the School Library Information Specialist (SLIS) on the instructional design of curriculum. In this study, collaboration means working together to meet standards and guidelines. The SLIS, in the role of instructional consultant to…

  6. An Experimental Study of Satisfaction Response: Evaluation of Online Collaborative Learning

    ERIC Educational Resources Information Center

    Cheng, Xusen; Wang, Xueyin; Huang, Jianqing; Zarifis, Alex

    2016-01-01

    On the one hand, a growing amount of research discusses support for improving online collaborative learning quality, and many indicators are focused to assess its success. On the other hand, thinkLets for designing reputable and valuable collaborative processes have been developed for more than ten years. However, few studies try to apply…

  7. Models of Interuniversity Collaboration in Higher Education--How Do Their Features Act as Barriers and Enablers to Sustainability?

    ERIC Educational Resources Information Center

    Coombe, Leanne

    2015-01-01

    This study combines conceptual and empirical review of the literature around interuniversity collaborations to identify known models and applications, and enablers and barriers impacting on their sustainability, to inform development of a collaborative public health teaching programme in Australia. A range of literature was explored in this study,…

  8. Using the UTAUT Model to Examine the Acceptance Behavior of Synchronous Collaboration to Support Peer Translation

    ERIC Educational Resources Information Center

    Liu, Yi Chun; Huang, Yong-Ming

    2015-01-01

    The teaching of translation has received considerable attention in recent years. Research on translation in collaborative learning contexts, however, has been less studied. In this study, we use a tool of synchronous collaboration to assist students in experiencing a peer translation process. Afterward, the unified theory of acceptance and use of…

  9. Gamified Assessment Supported by a Dynamic 3D Collaborative Game

    ERIC Educational Resources Information Center

    Mavridis, Apostolos; Tsiatsos, Thrasyvoulos; Chatzakis, Michalis; Kitsikoudis, Konstantinos; Lazarou, Efthymios

    2015-01-01

    This study examined whether a 3D collaborative gave can be used as a midterm examination method and investigated the impact of this game on students' attitude towards collaboration. A total of 89 students and one coordinating professor participated in this study. The intervention lasted five weeks and took place in a computer science department.…

  10. The Potential of Modelling Co-Teaching in Pre-Service Education

    ERIC Educational Resources Information Center

    Drescher, Talya

    2017-01-01

    Two studies aimed to document the process of preparing for and teaching collaborative education courses and to determine students' perception of collaboration and inclusion as a result of taking the course. Two sessions of collaborative teaching run by different professor dyads were studied over two 10-week quarters at a large public university.…

  11. How Do Thinking Styles Influence Collaborative Dispositions? A Study on the Relationships between Thinking Styles and Collaborative Dispositions for Youngsters in Taiwan

    ERIC Educational Resources Information Center

    Wu, Mingchang; Ho, Shihuei; Lin, Hsiuhsu; Chang, Wenlung; Chen, Lihua

    2013-01-01

    Collaboration dispositions keep attracting high attention in the business world for organizational competition and teamwork efficiency. Educators also highly value the cultivation of youngsters' thinking strategies and styles which facilitate their learning performance and even career achievement. This study was conducted to identify the…

  12. Exploring the Influences of Elementary School Students' Learning Motivation on Web-Based Collaborative Learning

    ERIC Educational Resources Information Center

    Chin-Fei, Huang; Chia-Ju, Liu

    2012-01-01

    The purpose of this study is to explore the influences of students' learning motivation on Web-based collaborative learning. This study conducted learning materials of Web pages about science and collaborative learning, a motivation questionnaire and interviews were used for data collection. Eighty Grade 5 students and a science teacher were…

  13. Instructional Theory for Using a Class Wiki to Support Collaborative Learning in Higher Education

    ERIC Educational Resources Information Center

    Lin, Chun-Yi

    2013-01-01

    The purpose of this study was to develop an instructional theory for using a class wiki to support collaborative learning in higher education. Although wikis have been identified in theory as one of the most powerful emerging technologies to support collaborative learning, challenges have been revealed in a number of studies regarding student…

  14. Teacher Collaborative Inquiry in the Context of Literacy Education: Examining the Effects on Teacher Self-Efficacy, Instructional and Assessment Practices

    ERIC Educational Resources Information Center

    Ciampa, Katia; Gallagher, Tiffany L.

    2016-01-01

    This case study research reports on elementary (grade 8) and secondary school (grade 9) teachers' participation in job-embedded, professional learning and engagement in collaborative inquiry. Teachers constructed an inquiry-oriented media literacy unit following the collaborative inquiry model. The current study sought to investigate how…

  15. A Discourse Analysis of Collaboration between Academic and Student Affairs in Community Colleges

    ERIC Educational Resources Information Center

    Gulley, Needham Yancey

    2016-01-01

    The purpose of this study was to understand the nature of collaboration between academic affairs and student affairs units in the community college context from a qualitative perspective. A discourse analysis study was conducted to explore the ways in which collaborative practice was discussed and understood by chief and midlevel academic and…

  16. Evaluating Two Models of Collaborative Tests in an Online Introductory Statistics Course

    ERIC Educational Resources Information Center

    Björnsdóttir, Auðbjörg; Garfield, Joan; Everson, Michelle

    2015-01-01

    This study explored the use of two different types of collaborative tests in an online introductory statistics course. A study was designed and carried out to investigate three research questions: (1) What is the difference in students' learning between using consensus and non-consensus collaborative tests in the online environment?, (2) What is…

  17. Exploration of the concept of collaboration within the context of nurse practitioner-physician collaborative practice.

    PubMed

    Bridges, Sharon

    2014-07-01

    Collaboration in the healthcare setting is a multifaceted process that calls for deliberate knowledge sharing and mutual accountability for patient care. The purpose of this analysis is to offer an increased understanding of the concept of collaboration within the context of nurse practitioner (NP)-physician (MD) collaborative practice. The evolutionary method of concept analysis was utilized to explore the concept of collaboration. The process of literature retrieval and data collection was discussed. The search of several nursing and medicine databases resulted in 31 articles, including 17 qualitative and quantitative studies, which met criteria for inclusion in the concept analysis. Collaboration is a complex, sophisticated process that requires commitment of all parties involved. The data analysis identified the surrogate and related terms, antecedents, attributes, and consequences of collaboration within the selected context, which were recognized by major themes presented in the literature and these were discussed. An operational definition was proposed. Increasing collaborative efforts among NPs and MDs may reduce hospital length of stays and healthcare costs, while enhancing professional relationships. Further research is needed to evaluate collaboration and collaborative efforts within the context of NP-MD collaborative practice. ©2013 American Association of Nurse Practitioners.

  18. Exploring the success of an integrated primary care partnership: a longitudinal study of collaboration processes.

    PubMed

    Valentijn, Pim P; Vrijhoef, Hubertus J M; Ruwaard, Dirk; de Bont, Antoinette; Arends, Rosa Y; Bruijnzeels, Marc A

    2015-01-22

    Forming partnerships is a prominent strategy used to promote integrated service delivery across health and social service systems. Evidence about the collaboration process upon which partnerships evolve has rarely been addressed in an integrated-care setting. This study explores the longitudinal relationship of the collaboration process and the influence on the final perceived success of a partnership in such a setting. The collaboration process through which partnerships evolve is based on a conceptual framework which identifies five themes: shared ambition, interests and mutual gains, relationship dynamics, organisational dynamics and process management. Fifty-nine out of 69 partnerships from a national programme in the Netherlands participated in this survey study. At baseline, 338 steering committee members responded, and they returned 320 questionnaires at follow-up. Multiple-regression-analyses were conducted to explore the relationship between the baseline as well as the change in the collaboration process and the final success of the partnerships. Mutual gains and process management were the most significant baseline predictors for the final success of the partnership. A positive change in the relationship dynamics had a significant effect on the final success of a partnership. Insight into the collaboration process of integrated primary care partnerships offers a potentially powerful way of predicting their success. Our findings underscore the importance of monitoring the collaboration process during the development of the partnerships in order to achieve their full collaborative advantage.

  19. Nurse-physician leadership: insights into interprofessional collaboration.

    PubMed

    Clark, Rebecca Culver; Greenawald, Mark

    2013-12-01

    The objective of this qualitative research study was to identify themes characterizing collaboration from the perspectives of nurses and physicians serving in complementary leadership roles in intensive and progressive care hospital units. Failures of communication are reported as a major cause of sentinel events. Most frequently, communication breakdown occurs between physicians and nurses. In this qualitative research study, taped interviews with nursing and medical unit directors (physicians) were analyzed for themes regarding factors influencing collaboration. Themes identified included the impact of organizational support, shared expectations, relationships, and communication. Findings of this study support the need for organizations and professionals to facilitate deliberate, structured interprofessional communication to advance collaboration between nurses and physicians.

  20. Frederick National Lab Collaboration Success Stories | FNLCR Staging

    Cancer.gov

    IBBR and Frederick National Lab Collaborate to Study Vaccine-Boosting Compounds The Frederick National Lab and the University of Maryland’s Institute for Bioscience and Biotechnology Research (IBBR) will work under a formal collaboration to eval

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