bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heterogeneity of follow‐up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines
Authors: Schiff Manuel , Broue Pierre , Chabrol Brigitte , De Laet Corinne , Habes Dalila , Mention Karine , Sarles Jacques , Spraul Anne , Valayannopoulos Vassili , Ogier de Baulny Hélène ,   and the French‐Belgian study group for HT‐1
Published: December 2011

AbstractThe 1991 introduction of 2‐(2‐nitro‐4‐trifluoro‐methylbenzyol)‐1,3 cyclohexanedione (NTBC) as a treatment for hereditary tyrosinemia type 1 (HT‐1), a disorder of tyrosine catabolism, has radically modified the natural history of this disorder. Despite the dramatic improvements in survival, outcomes and quality of life seen with NTBC treatment, HT‐1 remains a chronic disorder with several long‐term complications, including, a persistent (albeit low) risk of hepatocellular carcinoma and suboptimal neuropsychological outcomes. There remain unsolved key‐questions concerning the long‐term outcomes of patients with HT‐1, which closely depend on the quality of follow‐up in these patients. In the absence of published guidelines, we investigated the follow‐up methods used for French and Belgian patients with HT‐1. A simple questionnaire providing a rapid overview of follow‐up procedures was sent to the 19 physicians in charge of HT‐1 patients treated with NTBC and low‐tyrosine diet in France and Belgium. Several areas of heterogeneity (especially liver imaging, slit lamp examination, neuropsychological evaluation and maximal plasma tyrosine level accepted) were observed. In an attempt to improve long‐term management and outcome of patients with HT‐1, we proposed follow‐up recommendations.
Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline
Authors: Weissman Scott M. , Burt Randall , Church James , Erdman Steve , Hampel Heather , Holter Spring , Jasperson Kory , Kalady Matt F. , Haidle Joy Larsen , Lynch Henry T. , Palaniappan Selvi , Wise Paul E. , Senter Leigha 
Published: December 2011

AbstractIdentifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA‐ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in‐depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.
Cumulative annual dung beetle diversity in Mediterranean seasonal environments
Authors: Agoglitta Rossana , Moreno Claudia E. , Zunino Mario , Bonsignori Gabriella , Dellacasa Marco 
Published: December 2011

AbstractSpecies diversity assessments should consider the dynamic nature of ecological communities, especially in highly seasonal ecosystems. Here we provide a comprehensive framework for analysing seasonal changes in species composition, richness and diversity in two local dung beetle (Coleoptera: Scarabaeoidea: Aphodiidae, Geotrupidae, and Scarabaeidae) communities from Western Tuscany (Italy), in the Mediterranean ecoregion. We test whether, in this highly seasonal region, cumulative annual diversity is an oversimplification of well differentiated seasonal communities. Data were obtained through repeated standardised samples collected regularly over an entire year. We clearly identify different summer and winter communities at each site based on species composition and abundance. Seasonal richness and diversity values are different from the cumulative annual values, as a consequence of beta diversity between seasons, and some dung beetle species are identified as idiosyncratic of each particular season. Both ecological (niche partitioning) and biogeographical factors are suggested as drivers of these temporal variations. Thus, because local inventories of fauna that include records over long time periods actually reflect situations where coexistence and interactions are unlikely to occur, highly seasonal sites must be viewed as having temporally differentiated communities in order to reach feasible and reliable baselines for local diversity assessments.
Hydrochemistry and Quality Assessment of Groundwater in Part of NOIDA Metropolitan City, Uttar Pradesh
Authors: Singh Abhay Kumar , Tewary B. K. , Sinha A. 
Published: December 2011

Abstract
An attempt has been made to study the groundwater geochemistry in part of the NOIDA metropolitan city and assessing the hydrogeochemical processes controlling the water composition and its suitability for drinking and irrigation uses. The analytical results show that Na and Ca are the major cations and HCO3 and Cl are the major anions in this water. The higher ratios of Na+K/TZ+ (0.2-0.7), Ca+Mg/HCO3 (0.8-6.1); good correlation between Ca-Mg (0.75), Ca- Na (0.77), Mg-Na (0.96); low ratio of Ca+Mg/Na+K (1.6), Ca/Na (1.03), Mg/Na (0.64), HCO3/Na (1.05) along with negative correlation of HCO3 with Ca and Mg signify silicate weathering with limited contribution from carbonate dissolution. The hydro-geochemical study of the area reveals that many parameters are exceeding the desirable limits and quality of the potable water has deteriorated to a large extent at many sites. High concentrations of TDS, Na, Cl, SO4, Fe, Mn, Pb and Ni indicate anthropogenic impact on groundwater quality and demand regional water quality investigation and integrated water management strategy. SAR, %Na, PI and Mg-hazard values show that water is of good to permissible quality and can be used for irrigation. However, higher salinity and boron concentration restrict its suitability for irrigation uses at many sites.
Utilization of Infertility Treatments: The Effects of Insurance Mandates
Authors: Bitler Marianne P. , Schmidt Lucie 
Published: December 2011

Abstract
Over the last several decades, both delay of childbearing and fertility problems have become increasingly common among women in developed countries. At the same time, technological changes have made many more options available to individuals experiencing fertility problems. However, these technologies are expensive, and only 25% of health insurance plans in the United States cover infertility treatment. As a result of these high costs, legislation has been passed in 15 states that mandates insurance coverage of infertility treatment in private insurance plans. In this article, we examine whether mandated insurance coverage for infertility treatment affects utilization. We allow utilization effects to differ by age and education, since previous research suggests that older, more-educated women should be more likely to be directly affected by the mandates than younger women and less-educated women, both because they are at higher risk of fertility problems and because they are more likely to have private health insurance, which is subject to the mandate. We find robust evidence that the mandates do have a significant effect on utilization for older, more-educated women that is larger than the effects found for other groups. These effects are largest for the use of ovulation-inducing drugs and artificial insemination.
Resilience: thoughts on the value of the concept for critical gerontology
Authors: WILD KIRSTY , WILES JANINE L. , ALLEN RUTH E. S. 
Published: December 2011

ABSTRACTThis article examines the utility of the concept of resilience to the field of critical gerontology. Resilience is an increasingly popular concept within the social sciences. We explore some key ideas about individual and social resilience from varied fields, and propose new ways to conceptualise these in relation to resilience in later life. This article examines the history of the concept of resilience; explores some of the diverse ways that gerontologists are attempting to apply it to later life; and discusses the strengths and weaknesses of using resilience as a conceptual framework within critical ageing research. We also suggest ways of conceptualising resilience and ageing, highlighting the different scales of resilience that impact on the ability of older people to negotiate adversity, and some key areas of resilience relevant to later life. The example of mobility resilience is used to illustrate how different scales of resilience operate within an area of resilience central to the ageing experience. Finally, some key principles for the use of resilience within critical gerontology are outlined, providing guidance on how to maximise the potential of the concept whilst avoiding some of the limitations associated with its historical usage.
Hot spot heating process estimate using a laser-accelerated quasi-Maxwellian deuteron beam
Authors: Yang Xiaoling , Miley George H. , Flippo Kirk A. , Hora Heinrich 
Published: December 2011

AbstractThe hot spot heating process by an assumed deuteron beam is evaluated in order to estimate the contribution of the energy produced by the deuteron beam-target fusion to the heating process. The deuteron beam energy versus the number of deuterons is evaluated through the experimentally achieved proton beam energy distribution using the TRIDENT short pulse laser at the Los Alamos National Laboratory (LANL). The corresponding hot spot heating is then calculated using this assumed deuteron beam spectrum. The resulting first order heating dynamics is employed in the expanded “bonus” energy calculation, and a 12.73% extra energy from deuteron beam-target fusion was found with the assumed deuteron spectrum when ρrb = 4.5 g/cm2 is considered, where ρ is the fuel density, and rb is the ion beam focusing radius on the target. The results provide further insight into the contribution of the extra heat produced by deuteron beam-target fusion to the hot spot ignition process. A further analysis of how a converter foil using ultra-high-density cluster materials can help to achieve the yield requirements for ignition is presented.
Effects of long rarefied plasma on fast electron generation for FIREX-I targets
Authors: Sakagami H. , Sunahara A. , Johzaki T. , Nagatomo H. 
Published: December 2011

AbstractLong-scale preformed plasmas are generated inside the cone by the pre-pulse of the heating laser in the cone-guided fast ignition scheme and it is found that coupling efficiency from the heating laser to fast electrons especially suitable for core heating is drastically reduced by the preformed plasmas. To mitigate this serious problem, an extremely thin film is suggested to cover the entrance of the cone. This method, however, introduces long rarefied plasmas around the entrance of the cone and the main pulse must propagate through these plasmas. Therefore, fast electron characteristics produced by the main pulse could be affected, and effects of long rarefied plasmas on fast electron generation are investigated. It is found that the electron beam intensity becomes larger than that without the rarefied plasma, but the energy coupling rate from the heating laser to the core decreases due to lack of appropriate electrons for core heating. To achieve less than 10% degradation of the core electron temperature, the thin film must be expanded by irradiation of the pre-pulse so that the length and the density of rarefied plasmas become less than 500 µm and one-tenth of the critical density. A thickness of the thin film can be determined by these criteria and the intensity of the pre-pulse.
Caregivers' suffix frequencies and suffix acquisition by language impaired, late talking, and typically developing children
Authors: WARLAUMONT ANNE S. , JARMULOWICZ LINDA 
Published: December 2011

ABSTRACTAcquisition of regular inflectional suffixes is an integral part of grammatical development in English and delayed acquisition of certain inflectional suffixes is a hallmark of language impairment. We investigate the relationship between input frequency and grammatical suffix acquisition, analyzing 217 transcripts of mother–child (ages 1 ; 11–6 ; 9) conversations from the CHILDES database. Maternal suffix frequency correlates with previously reported rank orders of acquisition and with child suffix frequency. Percentages of children using a suffix are consistent with frequencies in caregiver speech. Although late talkers acquire suffixes later than typically developing children, order of acquisition is similar across populations. Furthermore, the third person singular and past tense verb suffixes, weaknesses for children with language impairment, are less frequent in caregiver speech than the plural noun suffix, a relative strength in language impairment. Similar findings hold across typical, SLI and late talker populations, suggesting that frequency plays a role in suffix acquisition.
Late catheter interventions in hypoplastic left heart syndrome
Authors: Kreutzer Jacqueline , Graziano Joseph N. , Stapleton Gary , Rome Jonathan J. 
Published: December 2011

AbstractInterventional cardiology plays a key role in the diagnosis and management of patients with functionally univentricular physiology after the various stages of surgical palliation. The interventions performed are widely variable in type, including angioplasty of stenotic vessels and implantation of stents in stenotic vessels; closure of defects such as collaterals, leaks in baffles, and fenestrations; creation of fenestration; and more. In the setting of venous hypertension associated with stenosis at the Fontan baffle, conduit, or pulmonary arteries, stent implantation is often preferred, as the aim is to eliminate completely the narrowing, given that relatively mild stenosis can have a significant detrimental hemodynamic effect in patients with functionally univentricular circulation. The procedure is highly successful. In patients who fail after Fontan procedure, creation of a fenestration is often performed, with variable technique depending on the underlying anatomic substrate. To increase chances of patency of the fenestration, implantation of a stent is often required, particularly in the setting of an extracardiac conduit. For those patients with cyanosis and favorable Fontan hemodynamics, closure of the fenestration is performed using atrial septal occluder devices with high success rate. Coils compatible with magnetic resonance imaging are used widely to treat collateral vessels, although on occasion other specific embolization tools are required, such as particles or vascular plugs. Postoperative arch obstruction is successfully managed with angioplasty at a younger age, while implantation of a stent in the aorta is reserved for older patients. Specifics of these interventional procedures as applied to the population of patients with functionally univentricular hearts are described in this manuscript.
Neurodevelopment and quality of life for children with hypoplastic left heart syndrome: current knowns and unknowns
Authors: Goldberg Caren S. , Mussatto Kathleen , Licht Daniel , Wernovsky Gil 
Published: December 2011

AbstractThe aim of this review is to describe the current state of knowledge related to neurodevelopmental outcomes and quality of life for children with hypoplastic left heart syndrome and to explore future questions to be answered for this group of children.
Longer-term issues for young adults with hypoplastic left heart syndrome: contraception, pregnancy, transition, transfer, counselling, and re-operation
Authors: Said Sameh M. , Dearani Joseph A. , Silversides Candice K. , Martinez Richard M. , Drajpuch David B. 
Published: December 2011

AbstractHypoplastic left heart syndrome remained a largely untreated lesion until the 1980s. In the current era, 75–80% of patients who are managed at “centres of excellence” can be expected to survive into young adulthood after staged palliation. This improved survival has led to an emerging population of patients now entering adulthood with a new set of concerns. We discuss the realised and potential issues that will be faced by these patients, including family planning, transition, and re-operation.
Hilbertianity of fields of power series
Authors: Paran Elad 
Published: December 2011

AbstractLetRbe a domain contained in a rank-1 valuation ring of its quotient field. LetR⟦X⟧ be the ring of formal power series overR, and letFbe the quotient field ofR⟦X⟧. We prove thatFis Hilbertian. This resolves and generalizes an open problem of Jarden, and allows to generalize previous Galois-theoretic results over fields of power series.
Bruhat–Tits theory from Berkovich's point of view. II Satake compactifications of buildings
Authors: Rémy Bertrand , Thuillier Amaury , Werner Annette 
Published: December 2011

AbstractIn the paper ‘Bruhat–Tits theory from Berkovich's point of view. I. Realizations and compactifications of buildings’, we investigated various realizations of the Bruhat–Tits building$\mathcal{B}(\mathrm{G},k)$of a connected and reductive linear algebraic group G over a non-Archimedean fieldkin the framework of Berkovich's non-Archimedean analytic geometry. We studied in detail the compactifications of the building which naturally arise from this point of view. In the present paper, we give a representation theoretic flavour to these compactifications, following Satake's original constructions for Riemannian symmetric spaces.We first prove that Berkovich compactifications of a building coincide with the compactifications, previously introduced by the third named author and obtained by a gluing procedure. Then we show how to recover them from an absolutely irreducible linear representation of G by embedding$\mathcal{B}(\mathrm{G},k)$in the building of the general linear group of the representation space, compactified in a suitable way. Existence of such an embedding is a special case of Landvogt's general results on functoriality of buildings, but we also give another natural construction of an equivariant embedding, which relies decisively on Berkovich geometry.
Geometric Weil representation in characteristic two
Authors: Genestier Alain , Lysenko Sergey 
Published: December 2011

AbstractLetkbe an algebraically closed field of characteristic two. LetRbe the ring of Witt vectors of length two overk. We construct a group stack Ĝ overk, the metaplectic extension of the Greenberg realization of$\operatorname{\mathbb{S}p}_{2n}(R)$. We also construct a geometric analogue of the Weil representation of Ĝ, this is a triangulated category on which Ĝ acts by functors. This triangulated category and the action are geometric in a suitable sense.
Deep intense vertical mixing in the Bussol' Strait
Authors: Yagi Masahiro , Yasuda Ichiro 
Published: December 2011

To reveal the intensity of deep mixing in the Bussol' Strait, we performed the direct observations of turbulence for the first time. Vigorous vertical mixing with a turbulent energy dissipation rate ε above 10−6 W/kg and diapycnal diffusivity Kρ above 103 cm2/s were observed at depths of 600–1300 m (potential densities of 27.0–27.5 σθ) at the western gap of the Bussol' Strait, possibly affecting water‐mass transformation and thermohaline circulation. The strong vertical mixing with a diurnal period occurred when the diurnal tidal current flowed toward the Okhotsk Sea, corresponding to a period of enhanced shear consisting of the mean flow with a two‐layered structure and the large‐amplitude diurnal tidal current with a vertical structure explained by a low‐vertical mode topographically trapped wave. The empirical relationship ofε = 10−1.46±1.91 × S2.16±0.72 is obtained between ε and the shear Sreconstructed from the 50‐m‐scale mean, diurnal, and semi‐diurnal tidal currents.
Taking shortcuts with OWL using safe macros
Authors: Mungall Christopher , Ruttenberg Alan , Osumi-Sutherland David 
Published: December 2011

AbstractAccurate representation of complex domains such as biology demands powerful and expressive ontology languages such as OWL. However, the complex nested class expressions required for modeling can be a hindrance to ontology authoring and adoption. These class expressions can appear opaque to domain experts, and even users proficient in OWL can benefit from some kind of syntactic sugar or "short-cut" strategy, especially when authoring large ontologies.One solution is to have domain experts fill in simple templates (for example, in Excel) and translate the results into more complex axioms, but this has the disadvantage of being disconnected from full ontology authoring and reasoning environment.We present here a method of specifying shortcut properties directly in OWL. These shortcut properties can be used in similar ways as object properties within the OWL environment, with the resulting simple axioms translated automatically to more complex axioms via macro expansion. We describe some example scenarios where this is of use in authoring existing bio-ontologies.One of the main implications of this work is a way to simplify the translation between OBO format and OWL, and the use of RDF triple-stores with complex OWL ontologies.
Ultra-sensitive high-precision spectroscopy of a fast molecular ion beam
Authors: Mills Andrew A. , Siller Brian M. , Porambo Michael W. , Perera Manori , Kreckel Holger , McCall Benjamin J. 
Published: December 2011

Direct spectroscopy of a fast molecular ion beam offers many advantages over competing techniques, including the generality of the approach to any molecular ion, the complete elimination of spectral confusion due to neutral molecules, and the mass identification of individual spectral lines. The major challenge is the intrinsic weakness of absorption or dispersion signals resulting from the relatively low number density of ions in the beam. Direct spectroscopy of an ion beam was pioneered by Saykally and co-workers in the late 1980s, but has not been attempted since that time. Here, we present the design and construction of an ion beam spectrometer with several improvements over the Saykally design. The ion beam and its characterization have been improved by adopting recent advances in electrostatic optics, along with a time-of-flight mass spectrometer that can be used simultaneously with optical spectroscopy. As a proof of concept, a noise-immune cavity-enhanced optical heterodyne molecular spectroscopy (NICE-OHMS) setup with a noise equivalent absorption of ∼2 × 10−11 cm−1 Hz−1/2 has been used to observe several transitions of the Meinel 1–0 band of \documentclass[12pt]{minimal}\begin{document}${\rm N}_2^+$\end{document}N2+ with linewidths of ∼120 MHz. An optical frequency comb has been used for absolute frequency calibration of transition frequencies to within ∼8 MHz. This work represents the first direct spectroscopy of an electronic transition in an ion beam, and also represents a major step toward the development of routine infrared spectroscopy of rotationally cooled molecular ions.