bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
Authors: Filosto Massimiliano , Scarpelli Mauro , Tonin Paola , Testi Silvia , Cotelli Maria Sofia , Rossi Mara , Salvi Andrea , Grottolo Alberto , Vielmi Valentina , Todeschini Alice , Fabrizi Gian Maria , Padovani Alessandro , Tomelleri Giuliano 
Published: April 2011

AbstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic options (peritoneal dialysis, allogeneic stem cell transplantation, enzyme replacement) makes it necessary to diagnose the disease early, which is not always achieved due to the difficulty in recognizing this disorder, especially in case of atypical presentation. We describe three MNGIE patients with atypical onset of the disease. In the first patient the main symptoms were long‐standing chronic fever, recurrent acute migrant arthritis, and gastrointestinal disorders mimicking autoimmune or inflammatory intestinal diseases; the second patient complained only of exercise intolerance and muscle cramps, and the third patient had a CIDP‐like polyneuropathy. This study stresses the insidious heterogeneous clinical onset of some cases of MNGIE, expands the spectrum of the phenotype, and suggests considering MNGIE in the differential diagnosis of enteropathic arthritis, isolated exercise intolerance, and inflammatory polyneuropathies not responsive to the usual treatment. A better understanding of the clinical heterogeneity of MNGIE is necessary in order to diagnose atypical cases and promote early diagnosis, which is now absolutely necessary in view of the new available therapies.
Barriers in Identification and Referral to Genetic Counseling for Familial Cancer Risk: The Perspective of Genetic Service Providers
Authors: Rolnick Sharon J. , Rahm Alanna K. , Jackson Jody M. , Nekhlyudov Larissa , Goddard Katrina A. B. , Field Terry , McCarty Catherine , Nakasato Cynthia , Roblin Douglas , Anderson Christopher P. , Valdez Rodolfo 
Published: April 2011

AbstractThe purpose of this study was to obtain genetic counselors’ perspectives about the identification of appropriate patients and barriers to referral of high‐risk patients for cancer genetic counseling services. Genetic service providers from eight integrated health systems were surveyed. Data analysis included descriptive statistics. Twenty‐eight of 40 potential participants responded (70%). Referrals for familial cancer risk assessment overwhelmingly came from providers (89%); only 10% were self‐referrals. Use of guidelines to assist providers with referral was reported by 46% of the respondents. Genetic service providers perceived patient barriers to seeking genetic counseling after referral included: risk evaluation viewed as a non‐priority (72%), concerns about impact on insurability (52%), distance to appointments (48%), lack of insurance (44%), lack of patient/provider knowledge about the value of genetic counseling (36%), discouragement by family members (28%), and fear (20%). The best approaches suggested by respondents to increase appropriate referrals were attending meetings and giving presentations to oncologists, surgeons, primary care and gynecologists. The genetic service providers reported several barriers to the referral and use of genetic counseling. This finding is consistent with current literature from the providers’ perspective. Our survey adds the genetic service providers’ perspective and identifies areas of opportunity for further research and intervention as few of the perceived barriers are being addressed through current educational efforts.
Parents’ Communication with Siblings of Children Affected by an Inherited Genetic Condition
Authors: Plumridge Gillian , Metcalfe Alison , Coad Jane , Gill Paramjit 
Published: April 2011

AbstractThe objective of this study was to explore parents’ communication about risk with siblings of children affected by an inherited genetic condition, and to ascertain what level of support, if any, is required from health professionals. Semi‐structured interviews were conducted with affected and unaffected children and their parents. Families were affected by one of six genetic conditions representing different patterns of inheritance and variations in age of onset, life expectancy and impact on families. Interviews were analysed using constructivist grounded theory and informed by models which focused on three different aspects of family communication. Interviews with 33 families showed that siblings’ information and support needs go largely unrecognized by health professionals and sometimes by parents. Some siblings were actively informed about the genetic condition by parents, others were left to find out and assimilate information by themselves. Siblings were given information about the current symptoms and management of the genetic condition but were less likely to know about its hereditary nature and their own potential risk. When siblings were fully informed about the condition and included in family discussion, they had a better understanding of their role within their family, and family relationships were reported to be more harmonious. The information and support needs of siblings can be overlooked. Parents with the responsibility for caring for a child affected by a genetic condition may require support from health professionals to understand and respond to their unaffected children's need for more information about the genetic condition and its implications for the children's own future health and reproductive decision‐making.
Testing of Collegiate Athletes for Sickle Cell Trait: What We, as Genetic Counselors Should Know
Authors: Aloe Amy , Krishnamurti Lakshmanan , Kladny Beth 
Published: April 2011

AbstractIn August 2010, the National Collegiate Athletic Association (NCAA) mandated that all of its incoming Division I student‐athletes be tested for sickle cell trait. Student‐athletes have the additional options to provide proof of a previous sickle cell test result or decline testing, by signing a waiver releasing their institution of liability. This article addresses the origins of the NCAA recommendations, and stresses the importance of proceeding with care. In doing so, it seeks to start a discussion in the genetic counseling community as to what, if any, should our role be?
Product portfolio architectural complexity and operational performance: Incorporating the roles of learning and fixed assets
Authors: Jacobs Mark A. , Swink Morgan 
Published: April 2011

AbstractManagers struggle to cope with complexity in their product portfolios. However, research into diversification, product platforms, and other issues related to product portfolio complexity has often produced inconsistent guidance. This situation is at least partially attributable to an incomplete definition of portfolio complexity, and to corresponding limitations of theories applied to date. To address these limitations, we define product portfolio complexity as a design state manifested by the multiplicity, diversity, and interrelatedness of products within the portfolio. We conceptually establish the three‐dimensional nature of complexity and present a model to provide insights into how each dimension impacts operational performance. As an extension to prior theoretical perspectives, the model explicitly addresses the roles of organizational learning and the character of fixed assets (utilization and flexibility) as mediator and moderator of product portfolio architectural complexity's effects, respectively. We also incorporate the principle of diminishing returns to address potential non‐linearities in the proposed relationships. Prior theories and research studies have neglected these issues. We conclude by discussing useful perspectives with which to view the model, and by presenting measures of portfolio complexity and approaches for testing the propositions developed herein.
Der alternde Mann – psychosomatische Aspekte
Authors: Seikowski Kurt 
Published: April 2011

Einleitung
Der „alternde Mann“ umfasst zwei Entwicklungsabschnitte – dass mittlere Lebensalter von ca. 40 bis 65 Jahren sowie das späte Lebensalter ab 65 aufwärts. Es sind Phasen in der Entwicklung von Männern, wo das bisherige „perfekte Männerbild“ nicht mehr funktioniert. Nicht allen gelingt die Umstellung sofort und führt vorübergehend oder dauerhaft zu psychosomatischen Beschwerden und Konflikten.
Contingency planning for crisis management: Recipe for success or political fantasy?
Authors: Eriksson Kerstin , McConnell Allan 
Published: April 2011

Abstract
Contingency planning is widely considered to be an essential role of public authorities. Anticipation of what may happen, coupled with the prior allocation of resources, personnel, equipment, crisis control rooms, tasks, responsibilities and decision guidance/rules, is assumed to maximise the chances of a successful response in the event of a crisis. However, this paper proposes that the relationship between crisis planning and crisis management outcomes is more complex and nuanced relationship the often assumed. Contingency planning which is successful in the pre-crisis stage, does not guarantee a successful crisis response. Correspondingly, contingency planning failures in the pre-crisis stage, do not automatically lead to a flawed crisis response. The reasons rest primarily with the multiple influences on crisis responses – only some of which can be anticipated and planned for. The conclusion provides policy-oriented and analytical reflections which recognise the value of contingency planning, while suggesting that we should not inflate our expectation of contingency planners or rush too quickly to vilify them for a lack of adequate preparations.
A control room metric for evaluating success and failure in high reliability crisis management
Authors: Schulman Paul R , Roe Emery 
Published: April 2011

Abstract
The focus of this article is specific: we propose a metric for evaluating crises that start in or require the response of control rooms of major critical infrastructures. Rather than addressing the vexed issue of how to evaluate crisis management in terms of success or failure, we focus on a subset of crises that carry with them a standard for evaluating how they are managed.
We begin with a central focus in research on high reliability management, namely, critical control room processes. The skills of control operators do not disappear when crises beset critical infrastructures they manage and we discuss the role of control operators in crisis management. A “crisis cycle” is described for control operators and we conclude with its use as a proposed standard for describing high reliability in crisis performance and for evaluating the degree of success or failure of such crisis management. This metric has implications for evaluating the role of crisis leadership and evaluating the role of Incident Command Systems in crisis management.
We do not argue that our proposed approach to evaluating crisis management in terms of control room performance is appropriate for all types of crises, all types of crisis management, all types of high reliability organizations, or even all types of critical infrastructures.
A search for long‐range dependence and chaotic structure in Indian stock market
Authors: Mishra Ritesh Kumar , Sehgal Sanjay , Bhanumurthy N.R. 
Published: April 2011

AbstractThis study tests for the presence of nonlinear dependence and deterministic chaos in the rate of returns series for six Indian stock market indices. The overall result of our analysis suggests that the returns series do not follow a random walk process. Rather it appears that the daily increments in stock returns are serially correlated and the estimated Hurst exponents are indicative of marginal persistence in equity returns. Result from the test of independence on filtered residuals suggests that the existence of nonlinear dependence, at least to some extent, can be attributed to the presence of conditional heteroskedasticity. It appears, therefore, that low order GARCH‐type models can adequately explain some, but not all, of the observed nonlinear dependence in the data. Further, we find very little evidence to support the proposition that returns are generated by a chaotic system. Only in two out of six cases the results are supportive of sensitive dependence on initial condition, which indicates chaos. Presence of chaos in market indices implies that profitable nonlinearity based trading rules may exist at least in the short‐run. Finally, fairly contrary to the findings of previous studies, rejection of random walk hypothesis offers some possibility of returns predictability.
Hydrostatics on the fray: Tartaglia, Cardano and the recovering of sunken ships
Authors: ECHEVERRÍA VIRGINIA IOMMI 
Published: April 2011

AbstractIn his 1551 Travagliata invenzione, the Italian mathematician Niccolò Tartaglia described a device for raising sunken ships. Despite his claim of originality, his contemporary Girolamo Cardano had described a similar method in his famous work De subtilitate, which was published a year before. A comparison between these methods reveals the uniqueness of Tartaglia's approach, for he combines an explicit defence of the horror vacui principle with an implicit negation of rarefaction. In this article I show the complexities of this conception and stress the importance of keeping the personal argument between both authors in mind when interpreting their descriptions of wreck-salvage operations.
Short-term effects of whole-grain wheat on appetite and food intake in
healthy adults: a pilot study
Authors: Bodinham Caroline L. , Hitchen Katie L. , Youngman Penelope J. , Frost Gary S. , Robertson M. Denise 
Published: April 2011

While it has been proposed, based on epidemiological studies, that whole grains may be
beneficial in weight regulation, possibly due to effects on satiety, there is limited
direct interventional evidence confirming this. The present cross-over study aimed to
investigate the short-term effects on appetite and food intake of 48 g of
whole-grain wheat (daily for 3 weeks) compared with refined grain (control). A total of
fourteen healthy normal-weight adults consumed, within their habitual diets, either two
whole-grain bread rolls (providing 48 g of whole grains over two rolls) or two
control rolls daily for 3 weeks. Changes in food intake were assessed using 7 d
diet diaries. Changes in subjective appetite ratings and food intake were also assessed at
postprandial study visits. There were no significant differences between interventions in
energy intake (assessed by the 7 d diet diaries and at the ad
libitum test meal), subjective appetite ratings or anthropometric measurements.
However, there was a significant difference between interventions for systolic blood
pressure, which decreased during the whole-grain intervention and increased during the
control intervention ( − 2 v.
4 mmHg; P = 0·015). The present study
found no effect of whole grains on appetite or food intake in healthy individuals;
however, 48 g of whole grain consumed daily for 3 weeks did have a beneficial
effect on systolic blood pressure. The findings from the present study therefore do not
support epidemiological evidence that whole grains are beneficial in weight regulation,
although further investigation in other population groups (such as overweight and obese)
would be required.
The oligosaccharide α-cyclodextrin has modest effects to slow gastric emptying and modify the glycaemic response to sucrose in healthy older adults
Authors: Gentilcore Diana , Vanis Lora , Teng Jasmine C. , Wishart Judith M. , Buckley Jonathan D. , Rayner Christopher K. , Horowitz Michael , Jones Karen L. 
Published: April 2011

In healthy older subjects, the glycaemic response to carbohydrate-containing meals is dependent on gastric emptying and intestinal absorption; when the latter is slowed, the magnitude of the rise in glucose is attenuated. The oligosaccharide α-cyclodextrin has been reported to diminish the glycaemic response to starch in young adults; this effect has been attributed to the inhibition of pancreatic amylase. We examined the effects of α-cyclodextrin on gastric emptying of, and the glycaemic and insulinaemic responses to, oral sucrose in healthy older subjects; as sucrose is hydrolysed by intestinal disaccharides, any effect(s) of α-cyclodextrin would not be attributable to amylase inhibition. A total of ten subjects (seven males and three females, age 68–76 years) were studied on 2 d. Gastric emptying, blood glucose and serum insulin were measured after ingestion of a 300 ml drink containing 100 g sucrose, labelled with99mTc-sulphur colloid, with or without 10 g α-cyclodextrin. Gastric emptying was slowed slightly by α-cyclodextrin; this effect was evident between 135 and 195 min and was associated with a slight increase (P < 0·05) in distal stomach retention. After α-cyclodextrin, blood glucose was slightly less (P < 0·05) at 60 min, and serum insulin was less (P < 0·0005) at 90 and 120 min. There was no difference in the incremental areas under the curve (iAUC) for blood glucose, but there was a trend for the iAUC for serum insulin to be lower (P = 0·09) after α-cyclodextrin. We conclude that in a dose of 10 g, α-cyclodextrin has modest effects to slow gastric emptying of, and modify the glycaemic and insulinaemic responses to, oral sucrose, probably due to delayed intestinal carbohydrate absorption.
Diet before pregnancy and the risk of hyperemesis gravidarum
Authors: Haugen Margaretha , Vikanes Åse , Brantsæter Anne Lise , Meltzer Helle Margrete , Grjibovski Andrej M. , Magnus Per 
Published: April 2011

Hyperemesis gravidarum (hyperemesis), characterised by severe nausea and vomiting in early pregnancy, has an unknown aetiology. The aim of the present study was to investigate food and nutrient intake before pregnancy and the risk of developing hyperemesis in women participating in the Norwegian Mother and Child Cohort Study. From 1999 to 2002, a total of 7710 pregnant women answered a FFQ about their diet during the 12 months before becoming pregnant and a questionnaire about illnesses during pregnancy, including hyperemesis. Only women who were hospitalised for hyperemesis were included as cases. Nutrient intakes during the year before pregnancy did not differ between the ninety-nine women who developed hyperemesis and the 7611 who did not. However, the intake of seafood, allium vegetables and water was significantly lower among women who developed hyperemesis than among women in the non-hyperemesis group. Relative risks of hyperemesis were approximated as OR, and confounder control was performed with multiple logistic regression. Women in the upper tertile of seafood consumption had a lower risk of developing hyperemesis than those in the lower tertile (OR 0·56, 95 % CI 0·32, 0·98), and women in the second tertile of water intake had a lower risk of developing hyperemesis than those in the first tertile (OR 0·43, 95 % CI 0·25, 0·73). The findings suggest that a moderate intake of water and adherence to a healthy diet that includes vegetables and fish are associated with a lower risk of developing hyperemesis.
Latent Trypanosoma brucei gambiense foci in Uganda: a silent epidemic in children and adults?
Authors: WASTLING S. L. , PICOZZI K. , WAMBOGA C. , VON WISSMANN B. , AMONGI-ACCUP C. , WARDROP N. A. , STOTHARD J. R. , KAKEMBO A. , WELBURN S. C. 
Published: April 2011

SUMMARYTrypanosoma brucei gambiense sleeping sickness follows a long asymptomatic phase and persists in ancient foci from which epidemic clinical disease arises. A putative focus of T. b. gambiense infections has been identified, initially in mothers and young children, on the Lake Albert shoreline of Western Uganda leading to mass screening of 6207 individuals in September 2008. T. b. gambiense infections were identified by Card Agglutination Test for Trypanosomiasis (CATT) and sub-species-specific PCR although parasitological methods failed to confirm any patent trypanosome infections. In April 2009, CATT positives were re-visited; diagnosis of individuals by CATT and PCR was unstable over the two time points and parasites remained undetected, even using mini Anion Exchange Centrifugation Technique (mAECT). These observations suggest the possibility of a silent focus of disease, where all infected individuals are in a latent stage, and highlight our limited understanding of the local natural history and disease progression of T. b. gambiense in children and adults.
Panic disorder and its subtypes: a comprehensive analysis of panic symptom heterogeneity using epidemiological and treatment seeking samples
Authors: Roberson-Nay R. , Kendler K. S. 
Published: April 2011

BackgroundPanic disorder (PD) is a heterogeneous syndrome that can present with a variety of symptom profiles that potentially reflect distinct etiologic pathways. The present study represents the most comprehensive examination of phenotypic variance in PD with and without agoraphobia for the purpose of identifying clinically relevant and etiologically meaningful subtypes.MethodLatent class (LC) and factor mixture analysis were used to examine panic symptom data ascertained from three national epidemiologic surveys [Epidemiological Catchment Area (ECA), National Comorbidity Study (NCS), National Epidemiologic Survey on Alcohol and Related Conditions (NESARC), Wave 1], a twin study [Virginia Adult Twin Study of Psychiatric and Substance Use Disorders (VATSPSUD)] and a clinical trial (Cross-National Collaborative Panic Study [CNCPS]).ResultsFactor mixture models (versus LC) generally provided better fit to panic symptom data and suggested two panic classes for the ECA, VATSPSUD and CNCPS, with one class typified by prominent respiratory symptoms. The NCS yielded two classes, but suggested both qualitative and quantitative differences. The more contemporary NESARC sample supported a two and three class model, with the three class model suggesting two variants of respiratory panic. The NESARC's three class model continued to provide the best fit when the model was restricted to a more severe form of PD/panic disorder with agoraphobia.ConclusionsResults from epidemiologic and clinical samples suggest two panic subtypes, with one subtype characterized by a respiratory component and a second class typified by general somatic symptoms. Results are discussed in light of their relevance to the etiopathogenesis of PD.
Get them before they get you: Trust, trustworthiness, and social cognition in boys with and without externalizing behavior problems
Authors: Sharp Carla , HA Carolyn , Fonagy Peter 
Published: April 2011

AbstractEconomic exchange games have rarely been applied to examine psychopathology in youth. In the current study we adapted a trust game to investigate the relations between externalizing behavior problems, trust, and trustworthiness. We were particularly interested in the differential modulating impact of “known identity” (vs. anonymous) condition of the task. Second, we examined whether anomalies in trust behavior would correspond to social cognition manifested in children with externalizing problems. A total of 171 (79 age-matched pairs) boys (mean age = 12.84; SD = 1.80) were recruited from community groups where social networks and relationships amongst peers have been established. A trust game was played under two conditions: an anonymous version where the identity of the trust game partner was not known and a “known identity” version where identities were revealed. Results supported the conclusion that boys with externalizing behavior problems are generally less trustworthy, but not less trusting and that this was true especially for the known identity version of the game. Moreover, anomalies in trust behavior were associated with hostile intentions, but not reflective of a general theory of mind deficit. This study contributes to an emerging literature using economic exchange games to investigate real-time, real-life exchanges in relation to psychopathology.