bluuebunny/crossref_metadata_2025_split huggingface dataset:
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage
Authors: Wang R. Y. , Abe J. T. , Cohen A. H. , Wilcox W. R. 
Published: October 2008

SummaryFabry disease is an X‐linked glycosphingolipidosis caused by a deficiency of α‐galactosidase A, a lysosomal enzyme. Symptoms in hemizygous males and heterozygous females are due to lysosomal storage of globotriaosylceramide in the central and peripheral nervous system, vascular endothelium, cardiac valves and myocytes, gastrointestinal tract, and renal epithelium. Pulmonary involvement is also a recognized manifestation of Fabry disease, but histopathological evidence of pulmonary lysosomal storage is scant. We report a 51‐year‐old woman with a G43R α‐galactosidase A mutation and normal spirometry testing 2.5 years prior to presentation, who experienced a dry, nonproductive cough that persisted despite treatment with antibiotics and bronchodilators. Spirometry demonstrated a mixed restrictive/obstructive pattern as well as impaired gas exchange. Patchy ground‐glass pulmonary interstitial infiltrates were found on plain radiography and computerized tomography. She underwent an open lung biopsy that demonstrated peribronchiolar fibrosis and smooth‐muscle hyperplasia. Prominent inclusion bodies of the bronchiolar/arteriolar smooth muscle and endothelium were present. Electron microscopy indicated the inclusion bodies were lamellated zebra bodies consistent with globotriaosylceramide storage. Enzyme replacement therapy (ERT) with agalsidase‐beta was instituted. Since initiation of therapy, she occasionally has a dry cough but markers of obstructive lung disease have remained stable in the past 4 years. This report demonstrates that pulmonary involvement in Fabry disease is due to lysosomal storage, and suggests that ERT is capable of stabilizing pulmonary Fabry disease. However, progressive worsening of her total lung capacity indicates that ERT cannot reverse the ongoing process of fibrosis also seen in Fabry disease.
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients
Authors: Dobrowolski S. F. , Pey A. L. , Koch R. , Levy H. , Ellingson C. C. , Naylor E. W. , Martinez A. 
Published: October 2008

SummaryThe biochemical properties of mutant phenylalanine hydroxylase (PAH) enzymes and clinical characteristics of hyperphenylalaninaemic patients who bear these mutant enzymes were investigated. Biochemical characterization of mutant PAH enzymes p.D143G, p.R155H, p.L348V, p.R408W and p.P416Q included determination of specific activity, substrate activation, Vmax, Km for (6R)‐l‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4), Kd for BH4, and protein stabilization by BH4. Clinical data from 22 patients either homozygous, functionally hemizygous, or compound heterozygous for the mutant enzymes of interest were correlated with biochemical parameters of the mutant enzymes. The p.L348V and p.P416Q enzymes retain significant catalytic activity yet were observed in classic and moderate PKU patients. Biochemical studies demonstrated that BH4 rectified the stability defects in p.L348V and p.P416Q; additionally, patients with these variants responded to BH4 therapy. The p.R155H mutant displayed low PAH activity and decreased apparent affinity for l‐Phe yet was observed in mild hyperphenylalaninaemia. The p.R155H mutant does not display kinetic instability, as it is stabilized by BH4 similarly to wild‐type PAH; thus the residual activity is available under physiological conditions. The p.R408W enzyme is dysfunctional in nearly all biochemical parameters, as evidenced by disease severity in homozygous and hemizygous patients. Biochemical assessment of mutant PAH proteins, especially parameters involving interaction with BH4 that impact protein folding, appear useful in clinical correlation. As additional patients and mutant proteins are assessed, the utility of this approach will become apparent.
Long‐term compliance with a novel vitamin and mineral supplement in older people with PKU
Authors: MacDonald A. , Lee P. , Davies P. , Daly A. , Lilburn M. , Gokmen Ozel H. , Preece M. A. , Hendriksz C. , Chakrapani A. 
Published: October 2008

SummaryBackground:The long‐term efficacy of vitamin and mineral preparations in dietary‐treated adult patients with phenylketonuria (PKU) is unreported. Aim: 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.Methods: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.Results:By 4 months, serum vitamin B12 (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 B12 (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).Conclusion: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.
Tools for Assessing Readability and Quality of Health‐Related Web Sites
Authors: Shedlosky‐Shoemaker Randi , Sturm Amy Curry , Saleem Muniba , Kelly Kimberly M. 
Published: October 2008

AbstractWith the Internet becoming a growing source of information on genetics, genetic counselors and other health‐care providers may be called upon to guide their patients to appropriate material, which is written at a suitable reading level for the individual and contains quality information. Given that many health‐related Web sites are written at a high school or higher reading level, without direction from a genetic counselor or health‐care provider, many Internet users may currently be turning to health‐related Web sites that they do not understand. Additionally, Internet users may not know how to evaluate the quality of information they find, which could lead to them access inaccurate or irrelevant information. To aid in the process of finding and designing Web sites that are appropriate for patients, the current article provides guidelines for assessing readability and quality of health‐related content. Additionally, a demonstration of an assessment is provided. Finally, limitations of these assessments are discussed.
Transpiration of Cyclobalanopsis glauca (syn. Quercus glauca) stand measured by sap‐flow method in a karst rocky terrain during dry season
Authors: Huang Yuqing , Zhao Ping , Zhang Zhongfeng , Li Xiankun , He Chengxin , Zhang Ruiquan 
Published: October 2008

AbstractSeasonal drought may have a high impact on the karst ecosystem. The transpiration from Cyclobalanopsis glauca (syn. Quercus glauca) stand on a rocky hilly slope in South China was measured during the dry period of 2006 by using the Granier's sap‐flow method. During the experimental period, maximum sap flux density (Js) ranged from 20 to 40 g H2O m−2 s−1 according to diameter of breast height (DBH) of individual trees. On sunny days, daily transpiration varied between 3.4 and 1.8 mm day−1. Transpiration of C. glauca was closely correlated to the radiation, air temperature, and vapor pressure deficit (VPD). Soil moisture was a very important factor influencing transpiration. The very low soil water content might result in low stand transpiration even when VPD is high, but high soil water content might also result in low transpiration if it was low VPD. However, VPD rather than soil moisture, affected largely the stand transpiration under high soil water content. The amount of transpiration was much more than that of the total soil moisture loss during the continuous sunny days, indicating that the dry shallow soils were probably not the only source for root‐uptake water. C. glauca grows deep roots through the rock fissures of epikarst, indicating that epikarst might be another main source for sustaining transpiration in response to dry demand in autumn. Therefore, a large amount of deep roots of karst species would be a very important hydraulic connecting from the epikarst to above ground by transpiration, which would promote the biogeochemical process in a karst system.
Food selection in Microtus arvalis: the role of plant functional traits
Authors: Lantová Petra , Lanta Vojtěch 
Published: October 2008

AbstractWe offered captive common voles (Microtus arvalis) a choice of 11 plant species (representing four ecological groups) growing in vivaria. Selection was evaluated by measuring (1) the biomass of each plant species consumed and (2) functional and life‐history plant traits. The legume Trifolium pratense, known for its high nutrient level, and well accessible rosette forbs creating the highest biomass at the soil ground level, were mostly preferred. Voles avoided mainly grasses and the creeping forb Thymus pulegioides. The experiment showed that foraging was strongly plant species‐specific. We assessed whether plant functional traits explain selective foraging in common voles. To explore this, we reanalyzed Holišová's (1959) data about common vole stomach contents and plant trait databases. Regression tree analysis indicated that plant guild and life span were the best predictors of dietary selection, with a probability exceeding 0.5 that voles would eat more grasses and/or legumes than forbs. These results do not correspond with the feeding trial. We suggest that the voles usually consume grasses in the field because grasses are abundant and readily available, but prefer protein‐rich forbs when possible.
Effects of Shape and Strain Distribution of Quantum Dots on Optical Transition in the Quantum Dot Infrared Photodetectors
Authors: Yang X-F , Chen X-S , Lu W , Fu Y 
Published: October 2008

Abstract
We present a systemic theoretical study of the electronic properties of the quantum dots inserted in quantum dot infrared photodetectors (QDIPs). The strain distribution of three different shaped quantum dots (QDs) with a same ratio of the base to the vertical aspect is calculated by using the short-range valence-force-field (VFF) approach. The calculated results show that the hydrostatic strain ɛHvaries little with change of the shape, while the biaxial strain ɛBchanges a lot for different shapes of QDs. The recursion method is used to calculate the energy levels of the bound states in QDs. Compared with the strain, the shape plays a key role in the difference of electronic bound energy levels. The numerical results show that the deference of bound energy levels of lenslike InAs QD matches well with the experimental results. Moreover, the pyramid-shaped QD has the greatest difference from the measured experimental data.
Investigation of Semiconductor Quantum Dots for Waveguide Electroabsorption Modulator
Authors: Ngo CY , Yoon SF , Loke WK , Cao Q , Lim DR , Wong Vincent , Sim YK , Chua SJ 
Published: October 2008

Abstract
In this work, we investigated the use of 10-layer InAs quantum dot (QD) as active region of an electroabsorption modulator (EAM). The QD-EAM is a p-i-n ridge waveguide structure with intrinsic layer thickness of 0.4 μm, width of 10 μm, and length of 1.0 mm. Photocurrent measurement reveals a Stark shift of ~5 meV (~7 nm) at reverse bias of 3 V (75 kV/cm) and broadening of the resonance peak due to field ionization of electrons and holes was observed for E-field larger than 25 kV/cm. Investigation at wavelength range of 1,300–1320 nm reveals that the largest absorption change occurs at 1317 nm. Optical transmission measurement at this wavelength shows insertion loss of ~8 dB, and extinction ratio of ~5 dB at reverse bias of 5 V. Consequently, methods to improve the performance of the QD-EAM are proposed. We believe that QDs are promising for EAM and the performance of QD-EAM will improve with increasing research efforts.
Desorption of Fructose from a Packed Column to an Oleic Acid/Fructose Oleate Mixture for Employment in a Bioreactor System
Authors: Pyo Sang‐Hyun , Hayes Douglas G. 
Published: October 2008

AbstractAdsorption isotherms for a packed column consisting of fructose and silica gel in contact with a liquid phase consisting of oleic acid and fructose mono‐ and di‐oleate at 65 °C were determined to assist the column’s utilization in a bioreactor system for the solvent‐free lipase‐catalyzed synthesis of saccharide ester biosurfactants. The liquid‐phase fructose content was very low, ranging from 0.005 to 0.1% (w/w), with the higher values obtained for a higher fructose concentration in the column and a higher ester content in the liquid phase. The desorption behavior of fructose followed the Freundlich isotherm. An increase in the liquid phase space velocity increased the initial rate of fructose desorption linearly. Dynamic light scattering measurements demonstrate solutions obtained by mechanical stirring of crystalline fructose and oleic acid/fructose oleate contained 50–250 μm sized aggregates, even after centrifugation at 12,000 rpm, but that the aggregates were absent from the desorption column effluent stream. Therefore, employment of a desorption column will lead to a low saccharide concentration in the liquid phase, but will reduce suspension‐induced fouling of lipase in a bioreactor downstream of the column, which could improve the retention of lipase activity.
Comparison of nociceptive behavior in prostaglandin E, F, D, prostacyclin and thromboxane receptor knockout mice
Authors: Popp Laura , Häussler Annett , Olliges Anke , Nüsing Rolf , Narumiya Shuh , Geisslinger Gerd , Tegeder Irmgard 
Published: October 2008

ABSTRACTAntagonist at specific prostaglandin receptors might provide analgesia with a more favourable toxicity profile compared with cyclooxygenase inhibitors. We analyzed nociceptive responses in prostaglandin D, E, F, prostacyclin and thromboxane receptor knockout mice and mice deficient of cyclooxygenase 1 or 2 to evaluate the contribution of individual prostaglandin receptors for heat, mechanical and formalin‐evoked pain. None of the knockouts was uniformly protected from all of these pain stimuli but COX‐1 and EP4 receptor knockouts presented with reduced heat pain and EP3 receptor and COX‐2 knockout mice had reduced licking responses in the 2nd phase of the formalin assay. This was accompanied with reduced c‐Fos immunoreactivity in the spinal cord dorsal horn in EP3 knockouts. Oppositely, heat pain sensitivity was increased in FP, EP1 and EP1+3 double mutant mice possibly due to a loss of FP or EP1 receptor mediated central control of thermal pain sensitivity. Deficiency of either EP2 or DP1 was associated with increased formalin‐evoked flinching responses and c‐Fos IR in dorsal horn neurons suggesting facilitated spinal cord pain reflex circuity. Thromboxane and prostacyclin receptor knockout mice showed normal pain behavior in all tests. The results suggest a differential, pain‐stimulus and site‐specific contribution of specific PG‐receptors for the processing of the nociceptive stimuli, a differential modulation of nociceptive responses by COX‐1 and COX‐2 derived prostaglandins and compensatory and/or developmental adaptations in mice lacking specific PG receptors.
Trans-Zab Jewish Neo-Aramaic
Authors: Mutzafi Hezy 
Published: October 2008

AbstractThe present article seeks to describe a major group of Jewish North-Eastern Neo-Aramaic (NENA) dialects located across the Great Zab river in the eastern and south-eastern parts of the dialectological map of NENA, hence the term “Trans-Zab Jewish Neo-Aramaic” (“Trans-Zab”, for short) chosen for this dialect group. A large set of phonological, morphophonological, morphological and lexical innovations, shared by all members of this group, is presented. Each of the Trans-Zab features is compared with contrastive parallel features in other, selected NENA varieties. Finally, an internal classification of Trans-Zab into three subdivisions is proposed, based on a comparison of three respective paradigms of the positive present copula.
The organs of Han imperial government: zhongdu guan, duguan, xianguan and xiandao guan
Authors: Loewe Michael 
Published: October 2008

AbstractPassages in received texts and in recently found legal documents show the different ways in which four terms refer to offices of Han imperial government; zhongdu guan indicates offices of the central government in the capital city; duguan signifies offices controlled by the central government but posted to work in the commanderies and counties; xianguan refers to just those offices but it is often used of “the government” in general, and in exceptional cases it specifies the emperor in person; xiandao guan were the offices of provincial government established in the counties (xian) and marches (dao).
Consumer's guide to evidence in phonology
Authors: Ohala John J. 
Published: October 2008

ABSTRACTThe purpose of evidence adduced in support of a theory is not to prove that theory true but to demonstrate that competing theories account for facts less well and thus no longer demand our attention. Evidence therefore, if it can unambiguously decide between competing theories, helps the discipline to spend its resources on only a few issues at a time. I evaluate this winnowing capacity of various kinds of evidence which have been offered in support of hypotheses on what knowledge native speakers' have about the sound patterns in their language and how they use it: surface sound patterns, sound change, poetry, speech errors, word games, and experiments. I argue that experiments provide evidence of the highest quality. Four experiments are reported, three psychological and one phonetic, which offer evidence on the following claims: (a) the psychological basis of speakers' awareness of phonotactics, (b) speakers' awareness of the morphemic constituents of complex derived words, (c) whether epenthetic stops of the sort evident in words like team[p]ster are added by purely mechanical constraints of the articulatory apparatus or whether they can be attributed to higher, pre-phonetic levels, and (d) the factors that determine speakers' assignment of allophones to phonemes.
Today the world, tomorrow phonology*
Authors: Ohala John J. , McCawley James D. 
Published: October 2008

ABSTRACTGenerative phonological research has typically relied heavily on gratuitous assumptions about the particular morphemic decompositions that are by convention treated as data, about the relevance of those decompositions to the determination of underlying forms, and about the individuation of linguistic phenomena. I discuss a number of topics that take on a different complexion when these gratuitous assumptions are avoided: the identification of particular segments as making up underlying forms, which is far more problematic than has hitherto been recognised; various prior studies that can be interpreted as showing that ‘Vowel Shift’, while playing some role in the competence of speakers of English, has much less generality than standard tenets of generative phonology would lead one to expect; and individual variation in perceived morphemic relations among words. I report on an experiment that demonstrates the existence of such variation and provides evidence for individual differences in the system of vowel alternations and in the status of vowel shift alternations in that system.
Perceptual constraints and phonological change: a study of nasal vowel height
Authors: Ohala John J. , Beddor Patrice Speeter , Krakow Rena Arens , Goldstein Louis M. 
Published: October 2008

ABSTRACTTo address the claim that listener misperceptions are a source of phonological shifts in nasal vowel height, the phonological, acoustic and perceptual effects of nasalisation on vowel height were examined. We show that the acoustic consequences of nasal coupling, while consistent with phonological patterns of nasal vowel raising and lowering, do not always influence perceived vowel height. The perceptual data suggest that nasalisation affects perceived vowel height only when nasalisation is phonetically inappropriate (e.g. insufficient or excessive nasal coupling) or phonologically inappropriate (e.g. no conditioning environment in a language without distinctive nasal vowels). It is argued that these conditions, rather than the inherent inability of the listener to distinguish the spectral effects of velic and tongue body gestures, lead to perceptual misinterpretations and potentially to sound change.
Towards an articulatory phonology
Authors: Ohala John J. , Browman Catherine P. , Goldstein Louis M. 
Published: October 2008

ABSTRACTWe propose an approach to phonological representation based on describing an utterance as an organised pattern of overlapping articulatory gestures. Because movement is inherent in our definition of gestures, these gestural ‘constellations’ can account for both spatial and temporal properties of speech in a relatively simple way. At the same time, taken as phonological representations, such gestural analyses offer many of the same advantages provided by recent nonlinear phonological theories, and we give examples of how gestural analyses simplify the description of such ‘complex segments’ as /s/–stop clusters and prenasalised stops. Thus, gestural structures can be seen as providing a principled link between phonological and physical description.
Inflected prepositions in Italian
Authors: Zwicky Arnold M. , Kaisse Ellen M. , Napoli Donna Jo , Nevis Joel 
Published: October 2008

In Italian certain prepositions (Ps) can appear morphologically combined with articles, inflecting for number and gender. We will dub this the inflected form of the P for the moment, without prejudice as to the analysis of this form:(1) Sta nella terza camera ‘It's in the third bedroom’ is in/the (fern sg) third bedroom(2) C' è abbastanza carta sulle scrivanie there is enough paper on/the (fern pi) desks ‘There's enough paper on the desks’(3) Ci va col vicino there goes with'the (masc sg) neighbour ‘He's going there with his neighbour’(4) L' ho dato ai ragazzi ‘I gave it to the boys’ it I–have given to/the (masc pi) boysThe inflected form of the P has desinences similar to those found on the articles and the demonstrative adjective quel(lo). These forms are given overleaf in Table I (where only one inflected P is shown, but the forms for the other inflected Ps vary for number and gender in the same way).
French prepositions:no peeking
Authors: Zwicky Arnold M. 
Published: October 2008

Spatial location and direction are expressed in French primarily by means of prepositional phrases involving three different prepositions:en, dans and à. Disregarding the usual collection of fixed expressions, lexical idiosyncrasies and subtle pragmatic and stylistic effects, the large generalisation about spatial PPs is that dans and a tend to be used with objects understood referentially, as in (1) and (2) (such ‘determinate’ or ‘particularised’ NPs will typically have a determiner in them), while en is used with non-referential objects, as in (3) (these will typically lack a determiner):(1) a. dans la prison ‘in(to) the prison’b. dans une prison ‘in(to) a prison’(2) a l'ecole ‘in(to) the school’(3) en prison ‘in(to) prison’