bluuebunny/crossref_metadata_2025_split huggingface dataset:
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Authors: Hasanoglu Alev , Balwani Manisha , Kasapkara Çiğdem S. , Ezgü Fatih S. , Okur İlyas , Tümer Leyla , Çakmak Alpay , Nazarenko Irina , Yu Chunli , Clavero Sonia , Bishop David F. , Desnick Robert J. 
Published: November 2010

AbstractHereditary coproporphyria (HCP) is an autosomal dominant acute hepatic porphyria due to the half‐normal activity of the heme biosynthetic enzyme, coproporphyrinogen oxidase (CPOX). The enzyme catalyzes the step‐wise oxidative decarboxylation of the heme precursor, coproporphyrinogen III, to protoporphyrinogen IX via a tricarboxylic intermediate, harderoporphyrinogen. In autosomal dominant HCP, the deficient enzymatic activity results primarily in the accumulation of coproporphyrin III. To date, only a few homozygous HCP patients have been described, most having Harderoporphyria, a rare variant due to specific CPOX mutations that alter enzyme residues D400–K404, most patients described to date having at least one K404E allele. Here, we describe a Turkish male infant, the product of a consanguineous union, who presented with the Harderoporphyria phenotype including neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. He was homoallelic for the CPOX missense mutation, c.980A>G (p.H327R), and had massively increased urinary uroporphyrins I and III (9,250 and 2,910 μM, respectively) and coproporphyrins I and III (895 and 19,400 μM, respectively). The patient expired at 5 months of age from an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site, thereby accounting for the Harderoporphyria phenotype.
Living on the verge: are roads a more suitable refuge for small mammals than streams in Mediterranean pastureland?
Authors: Sabino‐Marques Helena , Mira António 
Published: November 2010

AbstractThe retention of natural habitat corridors is a useful and practical conservation tool that can attenuate the effects of habitat loss and fragmentation on wildlife. Linear structures may contribute to the conservation of biodiversity by providing additional habitats for small fauna living in highly modified environments. We assessed the importance of road verges as refuge areas for small mammals, in highly intensified grazed pastures, within a Mediterranean landscape and compared the role of road verges as refuges with that of riparian galleries, which have been described as important shelter locations for small fauna. For this purpose, a small mammal trapping study was undertaken on two road verges and beside two small streams in southern Portugal. We captured 457 individuals of five different species, with Mus spretus the most common species captured, followed by Crocidura russula. Captures were 4.6‐fold higher immediately beside both roads and streams than 12 m away in the surrounding matrix. Individuals captured in the matrix presented a smaller body size and lower body condition, suggesting that this suboptimal habitat is occupied mainly by subadults. M. spretus was 46% more abundant by roads than by streams, while C. russula was present in similar numbers in both habitats. M. spretus individuals were larger near streams but exhibited no difference in body condition between habitats. C. russula had a better body condition and slightly higher body lengths at roadsides. Our results show that roadside verges in intensively grazed Mediterranean landscapes act as important refuges and constitute equally vital habitats for small mammals as do riparian vegetation strips in landscapes where other suitable habitats are scarce.
Uniparentale Disomien
Authors: Eggermann T. , Kotzot D. 
Published: November 2010

Zusammenfassung
Der Begriff uniparentale Disomie (UPD) beschreibt eine Chromosomenaberration, bei der beide Homologen/beide Kopien eines Chromosomenabschnitts (Heterodisomie) bzw. 2 Kopien eines Homologen/eines Chromosomenabschnitts (Isodisomie) von nur einem Elternteil herrühren. Man kann UPDs ganzer Chromosomen von segmentalen und von komplexen UPDs unterscheiden. Mögliche mit einer UPD assoziierte Probleme sind Trisomiemosaike, Homozygotie autosomal-rezessiv vererbter Mutationen, Vater-Kind- und Mutter-Tochter-Übertragung X-chromosomal vererbter Mutationen und mit einem Genomic Imprinting assoziierte Erkrankungen. Letzteres beschreibt die von der elterlichen Herkunft abhängige monoallelische Expression bestimmter Gene. Bislang bekannte Imprintingerkrankungen sind ein transienter neonataler Diabetes mellitus, das Silver-Russell-Syndrom, das Beckwith-Wiedemann-Syndrom, die upd(14)mat (Temple-Syndrom), die upd(14)pat, das Prader-Willi-Syndrom und das Angelman-Syndrom. Als Entstehungsmechanismen kommen ein Trisomic oder Monosomic Rescue, eine Gametenkomplementation oder ein Postfertilisierungsfehler in Frage. Gesamtinzidenz und -prävalenz sind nicht bekannt, für einzelne mit einer Imprintingerkrankung assoziierte UPDs werden Häufigkeiten bis 1:3400 unter Geburten angegeben. Als Nachweismethoden kommen in der Routinediagnostik vor allem die Mikrosatellitenmarkeranalyse, methylierungsspezifische Polymerasekettenreaktion (PCR) und methylierungsspezifische MLPA („multiplex ligation-dependent probe amplification“) zum Einsatz.
Imprintingstörungen in der Reproduktionsmedizin
Authors: Haaf T. 
Published: November 2010

Zusammenfassung
Stochastische, Umwelt- und/oder genetisch bedingte Fehler (Epimutationen) bei der Genomreprogrammierung in den Keimzellen und unmittelbar nach der Befruchtung sind eine wichtige Quelle für phänotypische Variation und Krankheitssuszeptibilität. Tierexperimente belegen eindrucksvoll, dass assistierte Reproduktionstechniken (ART) mit sensitiven Phasen der epigenetischen Reprogrammierung interferieren. Epidemiologische Studien beim Menschen berichten über ein erhöhtes Risiko für Beckwith-Wiedemann- und Angelman-Syndrom, aber das absolute Risiko für ein ART-Kind mit Imprintingkrankheit bleibt gering. Zumindest einige Gene zeigen statistisch signifikante Methylierungsunterschiede innerhalb der normalen Methylierungsvariabilität zwischen ART und Nicht-ART-Schwangerschaften. Das heißt, entweder ART selbst oder mit der elterlichen Infertilität assoziierte Faktoren haben Einfluss auf das Epigenom der nächsten Generation. Fehlerhafte Methylierungsmuster in geprägten Genen zeigen eine signifikante Assoziation mit abnormalen Spermaparametern. Dies unterstützt die Vermutung, dass Epimutationen von der Keimbahn in den Embryo transferiert werden können.
Slices of motivic Landweber spectra
Authors: Spitzweck Markus 
Published: November 2010

AbstractIn this paper we show that a conjecture of Voevodsky about the slices of the motivic cobordism spectrum implies a statement about the slices of motivic Landweber spectra. Over perfect fields these slices are given by the coefficients of the corresponding topological Landweber spectrum and the motivic Eilenberg MacLane spectrum. We also prove a cohomological version of Landweber exactness which applies to the compact objects of the stable motivic homotopy category.
Left behind – delayed extinction and a relict trilobite fauna in the Cambrian–Ordovician boundary succession (east Laurentian platform, New York)
Authors: LANDING ED , WESTROP STEPHEN R. , KRÖGER BJÖRN , ENGLISH ADAM M. 
Published: November 2010

AbstractTwo completely dissimilar faunal changes occur between the Sunwaptan and Skullrockian Stages (Ptychaspid and Symphysurid ‘Biomeres’) in the uppermost Cambrian on the east Laurentian craton. An undolomitized section in the Little Falls Formation in Washington County, New York, shows a typical ‘biomere’ extinction, with highest Sunwaptan trilobites followed by the abrupt appearance ofCordylodus proavusZone conodonts and the lowest post-extinction trilobites (ParakoldinioidiaEndo) 5.0 m higher. This stage boundary interval is very condensed by comparison with coeval Great Basin and Texas sections. Approximately 70 km southwest, typical pre-extinction taxa (the catillicephalidAcheilopsUlrich and several dikelocephalid species) are shown for the first time to persist well beyond the extinction as they occur with middleC. proavusZone conodonts (Clavohamulus elongatusor, more likely,Hirsutodontus simplexSubzone). The Ritchie Limestone member of the uppermost Little Falls Formation yields a succession of conodont faunas that spans theC. elongatus–H. simplex–Clavohamulus hintzeiSubzones (middle–upperC. proavusZone). These data prove that the trilobites are a relict fauna that persisted into theSymphysurinaZone of the Skullrockian Stage. The massive (burrow-churned), mollusc-dominated Ritchie Limestone, with the second Upper Cambrian cephalopod locality in east Laurentia, represents an inner-shelf refugium for Sunwaptan trilobites that has not been previously encountered. Final extinction of typical Sunwaptan clades is at least locally diachronous, and a simple, genus-based approach to trilobite biostratigraphy in the Cambrian–Ordovician boundary interval is untenable. The relict fauna appears to be distinct at the species level, so it is likely that a viable, species-based biostratigraphy can be developed.Teridontus gallicusSerpagliet al. 2008 is a synonym ofT. nakamurai(Nogami, 1967), andT.?francisiLanding sp. nov., with a large base and tiny cusp, is a lowerC. proavusZone form. New trilobites areAcheilops olbermanniWestrop sp. nov. andParakoldinioidia maddowaeWestrop sp. nov. The lowest Ordovician ‘Gailor Dolomite’ is a junior synonym of the Tribes Hill Formation, and the Ritchie Limestone is assigned to the top of the terminal Cambrian Little Falls Formation.
Update of the Dutch protein evaluation system for ruminants: the DVE/OEB2010system
Authors: VAN DUINKERKEN G. , BLOK M. C. , BANNINK A. , CONE J. W. , DIJKSTRA J. , VAN VUUREN A. M. , TAMMINGA S. 
Published: November 2010

SUMMARYIn the current Dutch protein evaluation system (the DVE/OEB1991system), two characteristics are calculated for each feed: true protein digested in the intestine (DVE) and the rumen degradable protein balance (OEB). Of these, DVE represents the protein value of a feed, while OEB is the difference between the potential microbial protein synthesis (MPS) on the basis of available rumen degradable protein and that on the basis of available rumen degradable energy. DVE can be separated into three components: (i) feed crude protein undegraded in the rumen but digested in the small intestine, (ii) microbial true protein synthesized in the rumen and digested in the small intestine, and (iii) endogenous protein lost in the digestive processes.Based on new research findings, the DVE/OEB1991system has recently been updated to the DVE/OEB2010system. More detail and differentiation is included concerning the representation of chemical components in feed, the rumen degradation characteristics of these components, the efficiency of MPS and the fractional passage rates. For each chemical component, the soluble, washout, potentially degradable and truly non-degradable fractions are defined with separate fractional degradation rates. Similarly, fractional passage rates for each of these fractions were identified and partly expressed as a function of fractional degradation rate. Efficiency of MPS is related to the various fractions of the chemical components and their associated fractional passage rates. Only minor changes were made with respect to the amount of DVE required for maintenance and production purposes of the animal. Differences from other current protein evaluation systems, viz. the Cornell Net Carbohydrate and Protein system and the Feed into Milk system, are discussed.
Early determination of sex in jojoba plant by CAPS assay
Authors: INCE A. G. , KARACA M. 
Published: November 2010

SUMMARYJojoba [Simmondsia chinensis (Link) Schneider] is a dioecious plant grown for its seeds, which are the source of liquid wax or jojoba oil. The sex of jojoba plants cannot be determined with morphological characters until the plants reach reproductive maturity at 3 or more years old. This difficulty of early sex determination imposes severe constraints in breeding studies and in the sex allocation of seedlings in seed orchard establishment, and importantly in a priori mating designs to produce superior jojoba individuals. This study reports three new cleavage-amplified polymorphic sequence (CAPS) assays, which identify male and female individuals distinctly. One of the assays could also identify hermaphrodite jojoba plants existing in nature or obtained using mutagenesis studies.
Visual masking by object substitution in schizophrenia
Authors: Green M. F. , Wynn J. K. , Breitmeyer B. , Mathis K. I. , Nuechterlein K. H. 
Published: November 2010

BackgroundSchizophrenia patients demonstrate impairment on visual backward masking, a measure of early visual processing. Most visual masking paradigms involve two distinct processes, an early fast-acting component associated with object formation and a later component that acts through object substitution. So far, masking paradigms used in schizophrenia research have been unable to separate these two processes.MethodWe administered three visual processing paradigms (location masking with forward and backward masking, four-dot backward masking and a cuing task) to 136 patients with schizophrenia or schizoaffective disorder and 79 healthy controls. A psychophysical procedure was used to match subjects on identification of an unmasked target prior to location masking. Location masking interrupts object formation, four-dot masking task works through masking by object substitution and the cuing task measures iconic decay.ResultsPatients showed impairment on location masking after being matched for input threshold, similar to previous reports. After correcting for age, patients showed lower performance on four-dot masking than controls, but the groups did not differ on the cuing task.ConclusionsPatients with schizophrenia showed lower performance when masking was specific to object substitution. The difference in object substitution masking was not due to a difference in rate of iconic decay, which was comparable in the two groups. These results suggest that, despite normal iconic decay rates, individuals with schizophrenia show impairment in a paradigm of masking by object substitution that did not also involve disruption of object formation.
Texts on the tables: TheTabulae Iliacaein their Hellenistic literary context
Authors: Squire Michael 
Published: November 2010

AbstractThis article re-evaluates the 22 so-calledTabulae Iliacae. Where most scholars (especially in the English-speaking world) have tended to dismiss these objects as ‘trivial' and ‘confused’, or as ‘rubbish’ intended for the Roman ‘nouveaux riches’, this article relates them to the literary poetics of the Hellenistic world, especially Greek ecphrastic epigram. Concentrating on the tablets' verbal inscriptions, the article draws attention to three epigraphic features in particular. First, it explores the various literary allusivenesses of the two epigrammatic invocations inscribed on tablets 1A and 2NY; second, it examines the Alexandrian diagrammatic word-games on the reverse of sevenTabulae(2NY, 3C, 4N, 5O, 7Ti, 15Ber, 20Par), relating these to the pictorial-poetic games of the Greektechnopaegnia; third, it discusses the possible hermeneutic significance of associating six tablets with ‘Theodoreantechne’ (1A, 2NY, 3C, 4N, 5O, 20Par), comparing a newly discovered epigram by Posidippus (67 A-B). All of these allusions point to a much more erudite purpose and clientele: the tablets toyed with Hellenistic visual-verbal relations at large.
Royal and satrapal armies in Babylonia during the Second Diadoch War. TheChronicle of the Successorson the events during the seventh year of Philip Arrhidaeus (=317/316 BC)
Authors: Boiy Tom 
Published: November 2010

AbstractThe passage in theChronicle of the Successorsdealing with the year Phil.07 (=317/316 BC;ABC10 Obv. 14–18 =BCHP3 Obv. 33–37) is often used as a marker to favour the low-chronology hypothesis for the early Hellenistic period and Second Diadoch War. This in-depth study of this passage deals with the nature of the troops mentioned there (lúeren2.meš lugal, ‘royal troops’, andlúḪa-ni-i šàlugal, ‘royalḪanûtroops”) and the possible implications for the chronological debate. The result is that the passage is not pivotal for the low chronology because it is not only in a low-chronology scenario that it is possible. The use of ‘royal (Ḫanû) troops' in theChronicledoes not exclude the high chronology for the Second Diadoch War.
Estimating time to onset of swine influenza symptoms after initial novel A(H1N1v) viral infection
Authors: TOM B. D. M. , VAN HOEK A. J. , PEBODY R. , McMENAMIN J. , ROBERTSON C. , CATCHPOLE M. , DE ANGELIS D. 
Published: November 2010

SUMMARYCharacterization of the incubation time from infection to onset is important for understanding the natural history of infectious diseases. Attempts to estimate the incubation time distribution for novel A(H1N1v) have been, up to now, based on limited data or peculiar samples. We characterized this distribution for a generic group of symptomatic cases using laboratory-confirmed swine influenza case-information. Estimates of the incubation distribution for the pandemic influenza were derived through parametric time-to-event analyses of data on onset of symptoms and exposure dates, accounting for interval censoring. We estimated a mean of about 1·6–1·7 days with a standard deviation of 2 days for the incubation time distribution in those who became symptomatic after infection with the A(H1N1v) virus strain. Separate analyses for the <15 years and ⩾15 years age groups showed a significant (P<0·02) difference with a longer mean incubation time in the older age group.
First detection of spotted fever group rickettsiae inIxodes ricinusandDermacentor reticulatusticks in the UK
Authors: TIJSSE-KLASEN E. , JAMESON L. J. , FONVILLE M. , LEACH S. , SPRONG H. , MEDLOCK J. M. 
Published: November 2010

SUMMARYA preliminary study was conducted to determine the presence of spotted fever rickettsiae in two species of British tick (Ixodes ricinusandDermacentor reticulatus). The 16S rRNA gene ofRickettsiaspp. was detected in 39/401 (9·7%) of ticks tested, including 22/338 (6·5%)I. ricinusand 17/63 (27%)D. reticulatus. Some positiveI. ricinussamples showed 100% homology withRickettsia helvetica(10/22), and most positiveD. reticulatusshowed 100% homology withR. raoultii(13/17). Five otherRickettsiaspp. were detected exhibiting 96–99% homology. Ticks positive for rickettsiae were collected from various hosts and from vegetation from eight counties across Great Britain. The distribution ofR. helveticain various engorged and unfed stages ofI. ricinussuggests thatR. helveticais widespread.R. raoultiiwas found in questing adultD. reticulatusin Wales and England. This is the first evidence of potentially pathogenic spotted fever rickettsiae in British ticks.
Antibiotic therapy for acute Q fever in The Netherlands in 2007 and 2008 and its relation to hospitalization
Authors: DIJKSTRA F. , RIPHAGEN-DALHUISEN J. , WIJERS N. , HAK E. , VAN DER SANDE M. A. B. , MORROY G. , SCHNEEBERGER P. M. , SCHIMMER B. , NOTERMANS D. W. , VAN DER HOEK W. 
Published: November 2010

SUMMARYData about the effectiveness of different antibiotic regimens for the treatment of acute Q fever from clinical studies is scarce. We analysed the antibiotic treatment regimens of acute Q fever patients in 2007 and 2008 in The Netherlands and assessed whether hospitalization after a minimum of 2 days antibiotic therapy was related to the initial antibiotic therapy. Clinical data on antibiotic treatment and risk factors of acute Q fever patients were obtained from general practitioner medical records and self-reported by patients. For the 438 study patients, doxycycline was the most commonly prescribed initial antibiotic in both study years. After adjustments for confounding factors, doxycycline (200 mg/day), moxifloxacin, as well as other possibly effective antibiotics [including other new fluoroquinolones and doxycycline (100 mg/day)] showed significant lower risks for hospitalization compared to β-lactam antibiotics and azithromycin (reference group), with the lowest risk for doxycycline (200 mg/day) (odds ratio 0·04, 95% confidence interval 0·01–0·22). These data support current guidelines that recommend doxycycline as the first choice antibiotic for treating acute Q fever.
Free Will: Responsibility and ‘Free Will’
Authors: Vesey Godfrey 
Published: November 2010

As a rule we treat people as responsible for what they do. We admonish them if they behave badly, praise them if they do well. We punish people. And we reward them.There are exceptions, of course. For example, we do not punish someone for doing something he has been compelled to do, perhaps by having a gun in his back. And we even recognize such a thing as psychological compulsion, as in the case of kleptomania.
Providing health information to older adults
Authors: Sadowski Cheryl A 
Published: November 2010

SummaryProviding information to older adults is essential for informed decision-making and good health. Because there are significant deficits in providing information verbally, health professionals must use written information as well. Most studies have focused on the content and literacy of documents. However, the legibility and formatting are critically important for older adults, who are more likely to suffer with visual impairment. Providing written information that is tested for appropriate reading level and for presentation is necessary to ensure that older adults can use the information given. There are a number of tools available that test these aspects of written information, but not one tool that is universally accepted. Further research regarding the design and presentation of written information for older adults is necessary.
Influenza in aged care facilities
Authors: Lindley Richard I 
Published: November 2010

SummarySeasonal influenza remains a common cause of morbidity and mortality for older residents in aged care facilities. Whilst prevention is best managed by high vaccination rates for the general population, residents and aged care facility staff, new research suggests that a more active approach to surveillance and anti-viral treatment now plays an important role. The practicalities of managing an influenza outbreak are complex and best planned in advance with written protocols available. Good infection control remains a vital part of prevention and outbreak control.
Language, Interpretation and Worship—I
Authors: Warner Martin 
Published: November 2010

‘There is a kind of eloquence’, maintained St Augustine,which is manifestly inspired by God. Biblical writers have spoken with this kind of eloquence. … ‘On the other hand’ they have uttered some passages with a beneficial and salutary obscurity (salubris obscuritas), to exercise and, in a sense, to polish the minds of their readers, to break down aversions and spur on the zeal of those who are anxious to learn, as well as to conceal the meaning from the minds of the impious. (Augustine 1947: IV.6.9; IV.8.22, with one amendment to the translation)
Beyond Representation
Authors: Palmer Anthony 
Published: November 2010

So stellt der satz den Sachverhalt gleichsam auf eigene Faust dar.Foreword. Towards the end of this paper I refer to the work of A. J. Smith who died suddenly on 11 December 1991. His last book, Metaphysical Wit, was published in January 1992 by Cambridge University Press. I would like this paper to be thought of as a small tribute to the man and his work.
Educating for Citizenship
Authors: Alton David 
Published: November 2010

Two short paragraphs, 42 and 43, in the White Paper, Excellence in Schools, published in July 1997, announced the UK government's intention to educate for citizenship:Schools can help to ensure that young people feel that they have a stake in our society and the community in which they live by teaching them the nature of democracy and the duties, responsibilities and rights of citizens.