bluuebunny/crossref_metadata_2025_split huggingface dataset:
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
Authors: Debs Rabab , Froissart Roseline , Aubourg Patrick , Papeix Caroline , Douillard Claire , Degos Bertrand , Fontaine Bertrand , Audoin Bertrand , Lacour Arnaud , Said Gérard , Vanier Marie T. , Sedel Frédéric 
Published: November 2012

AbstractKrabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. From a series of 11 patients and 30 cases previously reported in the literature we describe the clinical, radiological, electrophysiological and genetic features of adult Krabbe disease. Patients diagnosed after the age of 16 years were included in this study. They were further divided into three groups depending on age at symptoms onset: (1) childhood onset cases (n = 7); (2) adolescence onset cases (n = 6) and adult onset cases (n = 28). Overall, 96 % of patients in the adult‐onset group presented with signs of pyramidal tracts dysfunction. Spastic paraparesis or tetraparesis became prominent in all cases. A peripheral neuropathy was present in 59 % of cases and was most often demyelinating (80 %). Other clinical signs encompassed dysarthria (31 %), cerebellar ataxia (27 %), pes cavus (27 %), deep sensory signs (23 %), tongue atrophy (15 %), optic neuropathy (12 %), cognitive decline (12 %). Cerebrospinal fluid protein concentration was moderately increased in 54 % of patients. Patients in the adolescent‐ and childhood‐onset groups had similar presentations but were more likely to display optic neuropathy (33 % and 57 %) and cerebellar ataxia (50 % and 57 %). In the adult‐onset group, the disease progressed slowly over more than 10 years, but a rapid course was observed in two patients. Abnormalities of brain MRI was similar in the three groups and included high signals of cortico‐spinal tracts (94 % of cases), hyper‐intensities of optic radiations (89 %) and hyper‐intensities or atrophy of the posterior part of the corpus callosum (60 %). No clear genotype‐phenotype relationship could be demonstrated.
Stereoselective Synthesis and NMR Characterization of C‐24 Epimeric Pairs of 24‐Alkyl Oxysterols
Authors: Ogawa Shoujiro , Kawamoto Hiroaki , Mitsuma Takashi , Fujimori Hiroki , Higashi Tatsuya , Iida Takashi 
Published: November 2012

AbstractTwo pairs of C‐24 epimeric (24R)‐/(24S)‐24‐hydroxy‐24‐methyl‐5α‐cholestan‐3β‐yl acetates and (24R)‐/(24S)‐25‐hydroxy‐24‐methyl‐5α‐cholestan‐3β‐yl acetates as well as some related 24‐ethyl oxysterol analogs were stereoselectively synthesized directly from the respective parent 24‐alkyl sterols by a remote O‐insertion reaction with 2,6‐dichloropyridine N‐oxide (DCP) in the presence of a catalytic amount of (5,10,15,20‐tetramesitylporphrinate) ruthenium(II) carbonyl complex [Ru(TMP)CO] and HBr. 1H‐ and 13C‐NMR signals serving to differentiate each of the two epimeric pairs were interpreted. The C‐24 alkyl oxysterols epimeric at C‐24 were found to be effectively characterized by the aromatic solvent‐induced shift (ASIS) by C5D5N, particularly for the difference in the 13C resonances in the substituted cholestane side chain. A method for differentiating the 1H and 13C signal assignment of the terminal 26‐/27‐CH3 in the iso‐octane side chain was also discussed on the basis of a combined use of the preferred conformational analysis and HMQC and HMBC techniques. The present method may be useful for determining the stereochemical configuration at C‐24 of this type of 24‐alkyl oxysterols.
Genetic Analysis of 16 NMR‐Lipoprotein Fractions in Humans, the GOLDN Study
Authors: Kraja Aldi T. , Borecki Ingrid B. , Tsai Michael Y. , Ordovas Jose M. , Hopkins Paul N. , Lai Chao‐Qiang , Frazier‐Wood Alexis C. , Straka Robert J. , Hixson James E. , Province Michael A. , Arnett Donna K. 
Published: November 2012

AbstractSixteen nuclear magnetic resonance (NMR) spectroscopy lipoprotein measurements of more than 1,000 subjects of GOLDN study, at fasting and at 3.5 and 6 h after a postprandial fat (PPL) challenge at visits 2 and 4, before and after a 3 weeks Fenofibrate (FF) treatment, were included in 6 time‐independent multivariate factor analyses. Their top 1,541 unique SNPs were assessed for association with GOLDN NMR‐particles and classical lipids. Several SNPs with −log10p > 7.3 and MAF ≥ 0.10, mostly intergenic associated with NMR‐single traits near genes FAM84B (8q24.21), CRIPT (2p21), ACOXL (2q13), BCL2L11 (2q13), PCDH10 (4q28.3), NXPH1 (7p22), and SLC24A4 (14q32.12) in association with NMR‐LDLs; HOMER1 (5q14.2), KIT (4q11–q12), VSNL1 (2p24.3), QPRT (16p11.2), SYNPR (3p14.2), NXPH1 (7p22), NELL1 (11p15.1), and RUNX3 (1p36) with NMR‐HDLs; and DOK5‐CBLN4‐MC3R (20q13), NELL1 (11p15.1), STXBP6 (14q12), APOB (2p24‐p23), GPR133 (12q24.33), FAM84B (8q24.21) and NR5A2 (1q32.1) in association with NMR‐VLDLs particles. NMR single traits associations produced 75 % of 114 significant candidates, 7 % belonged to classical lipids and 18 % overlapped, and 16 % matched for time of discovery between NMR‐ and classical traits. Five proxy genes, (ACOXL, FAM84B, NXPH1, STK40 and VAPA) showed pleiotropic effects. While tagged for significant associations in our study and with some extra evidence from the literature, candidates as CBNL4, FAM84B, NXPH1, SLC24A4 remain unclear for their functional relation to lipid metabolism. Although GOLDN study is one of the largest in studying PPL and FF treatment effects, the relatively small samples (over 700–1,000 subjects) in association tests appeals for a replication of such a study. Thus, further investigation is needed.
Weight gain during external fixation
Authors: Culotta Brad A. , Gilbert Shawn R. , Sawyer Jeffrey R. , Ruch Alice , Sellers Thomas 
Published: November 2012

Background/purpose In our clinical practice we found that some patients treated with external fixation, especially those with Blount disease, had notable weight gain. We hypothesized that correction of Blount disease using external fixation would be associated with weight gain and that the weight gain would be greater than that seen in other patients. Methods This was a retrospective chart review of patients with Blount disease at two children's hospitals. Patients with Blount disease were compared to patients treated with external fixation for fracture or other deformity. The data recorded included initial and post-treatment weight and time in external fixation. Within each group pre-operative weight was compared with post-treatment weight, and weight gain was compared between groups. Results The study cohort comprised 39 patients with Blount disease and 13 control patients. The average age and weight of the patients with Blount disease and the controls were 12.8 years and 106.4 kg (1.7 × the 95th percentile weight for age) and 12.2 years and 52.4 kg (0.89 × the 95th percentile weight for age), respectively. Patients with Blount disease gained an average of 3.7 kg (range −12.5 to +43.1 kg) during 18 weeks of treatment (0.19 kg/week), and the controls gained an average of 4.1 kg (range −4.4 to +19 kg) over 17 weeks (0.247 kg/week). The weight gain during treatment was statistically significant for both groups, but was not statistically different between groups. Conclusion Patients with Blount disease as well as those with other conditions treated with prolonged external fixation experience significant weight gain which could complicate rehabilitation or return to previous activity.
Tensor-based morphometry of cannabis use on brain structure in individuals at elevated genetic risk of schizophrenia
Authors: Welch K. A. , Moorhead T. W. , McIntosh A. M. , Owens D. G. C. , Johnstone E. C. , Lawrie S. M. 
Published: November 2012

BackgroundSchizophrenia is associated with various brain structural abnormalities, including reduced volume of the hippocampi, prefrontal lobes and thalami. Cannabis use increases the risk of schizophrenia but reports of brain structural abnormalities in the cannabis-using population have not been consistent. We used automated image analysis to compare brain structural changes over time in people at elevated risk of schizophrenia for familial reasons who did and did not use cannabis.MethodMagnetic resonance imaging (MRI) scans were obtained from subjects at high familial risk of schizophrenia at entry to the Edinburgh High Risk Study (EHRS) and approximately 2 years later. Differential grey matter (GM) loss in those exposed (n = 23) and not exposed to cannabis (n = 32) in the intervening period was compared using tensor-based morphometry (TBM).ResultsCannabis exposure was associated with significantly greater loss of right anterior hippocampal (pcorrected = 0.029, t = 3.88) and left superior frontal lobe GM (pcorrected = 0.026, t = 4.68). The former finding remained significant even after the exclusion of individuals who had used other drugs during the inter-scan interval.ConclusionsUsing an automated analysis of longitudinal data, we demonstrate an association between cannabis use and GM loss in currently well people at familial risk of developing schizophrenia. This observation may be important in understanding the link between cannabis exposure and the subsequent development of schizophrenia.
Spin-based Optomechanics with Carbon Nanotubes
Authors: Li Jin-Jin , Zhu Ka-Di 
Published: November 2012

AbstractA simple scheme for determination of spin-orbit coupling strength in spinbased optomechanics with carbon nanotubes is introduced, under the control of a strong pump field and a weak signal field. The physical mechanism comes from the phonon induced transparency (PIT), by relying on the coherent coupling of electron spin to vibrational motion of the nanotube, which is analogous to electromagnetically induced transparency (EIT) effect in atom systems. Based on this spin-nanotube optomechanical system, we also conceptually design a single photon router and a quantum microwave transistor, with ultralow pump power (~ pW) and tunable switching time, which should provide a unique platform for the study of spin-based microwave quantum optics and quantum information processing.
Allometric Growth in Red Porgy Larvae: Developing Morphological Indices for Mesocosm Semi-Intensive Culture
Authors: Andrade Carlos A P , Nascimento Francisco J A , Nogueira Natacha , Pimenta Filomena , Dinis Maria T , Narciso Luís 
Published: November 2012

Abstract
We studied the morphological development, allometric growth, and cannibalistic behavior of Red Porgy Pagrus pagrus reared in mesocosm semi-intensive culture. The study was conducted from hatching to 32 d after hatching (DAH). Red porgy ontogeny was characterized by strong positive allometric growth of body depth at anus (BDA) to 6.7 mm total length (TL) at about 21–22 DAH. The BDA combined with standard length (SL) in a morphometric index was found to be better correlated with dry weight than TL and provided an improved method to estimate larval growth. Mouth size also exhibited strong positive allometric growth at early larval stages that, together with inflation of the swim bladder, may have contributed to improve feeding ability, in preparation for the high energy demands of metamorphosis. A predictive regression model developed for cannibalism underestimated prey size. Cannibalism coincided with the development of acidic digestion and was first evident at 27 DAH as larvae reached about 23% of their maximum size variation. We hypothesize that cannibalism is associated with larval size and condition, but is prompted by physiological and energetic factors. The bivariate morphometric index developed in this study can be used to mitigate cannibalism by controlling larval size variation and improving feed supply. The morphological measurements and morphometric indices that result from this study provide important tools for improving red porgy larvae culture.
READSCAN: a fast and scalable pathogen discovery program with accurate genome relative abundance estimation
Authors: Naeem Raeece , Rashid Mamoon , Pain Arnab 
Published: November 2012

Abstract
Summary: READSCAN is a highly scalable parallel program to identify non-host sequences (of potential pathogen origin) and estimate their genome relative abundance in high-throughput sequence datasets. READSCAN accurately classified human and viral sequences on a 20.1 million reads simulated dataset in &lt;27 min using a small Beowulf compute cluster with 16 nodes (Supplementary Material).
Availability: http://cbrc.kaust.edu.sa/readscan
Contact: arnab.pain@kaust.edu.sa or raeece.naeem@gmail.com
Supplementary information: Supplementary data are available at Bioinformatics online.
Submerged banks in the Great Barrier Reef, Australia, greatly increase available coral reef habitat
Authors: Harris Peter T. , Bridge Thomas C.L. , Beaman Robin J. , Webster Jody M. , Nichol Scott L. , Brooke Brendan P. 
Published: November 2012

Abstract
Harris, P. T., Bridge, T. C. L., Beaman, R. J., Webster, J. M., Nichol, S. L., and Brooke, B. P. 2013. Submerged banks in the Great Barrier Reef, Australia, greatly increase available coral reef habitat. – ICES Journal of Marine Science, 70: 284–293. Anthropogenic global ocean warming is predicted to cause bleaching of many near-sea-surface (NSS) coral reefs, placing increased importance on deeper reef habitats to maintain coral reef biodiversity and ecosystem function. However, the location and spatial extent of many deep reef habitats is poorly known. The question arises: how common are deep reef habitats in comparison with NSS reefs? We used a dataset from the Great Barrier Reef (GBR) to show that only about 39% of available seabed on submerged banks is capped by NSS coral reefs (16 110 km2); the other 61% of bank area (25 600 km2) is submerged at a mean depth of around 27 m and represents potential deep reef habitat that is spatially distributed along the GBR continental shelf in the same latitudinal distribution as NSS reefs. Out of 25 600 km2 of submerged bank area, predictive habitat modelling indicates that more than half (around 14 000 km2) is suitable habitat for coral communities.
Pigments versus structure: examining the mechanism of age‐dependent change in a carotenoid‐based colour
Authors: Evans Simon R. , Sheldon Ben C. 
Published: November 2012

Summary

Within‐population colour variation is widespread in animals, yet the determinants of variable coloration have been relatively neglected by ecologists.
Age‐dependent expression of conspicuous coloration is prevalent, particularly in birds. Such patterns can be generated by multiple combinations of demographic heterogeneity or within‐individual change; longitudinal analyses are necessary to establish the importance of these processes.
Further, although pigment‐based colours are composite traits, produced by multiple component mechanisms (e.g. feather microstructure and carotenoid pigmentation), the contributions of these mechanisms to components of age dependence are rarely considered, even though doing so may yield information about the ecological causes for age‐dependent coloration.
We used a large‐scale, longitudinal study of carotenoid‐based plumage coloration in great tits (Parus major) to show age dependence of plumage coloration is driven almost exclusively by within‐individual effects in the first 2 years of life.
Using wavelength‐specific analyses, we show that feather microstructure, while sensitive to annual variation, is independent of age, with increased carotenoid deposition driving changes in coloration. However, estimates of local carotenoid availability did not explain the change in coloration within individuals, suggesting that pigment availability may not be limiting.
We thus show that it is individual‐level changes in the pigment component of carotenoid‐based coloration that determines age‐dependent colour expression in great tits. More generally, our study highlights the utility of wavelength‐specific analyses in determining the mechanisms underlying changes in expression of composite colour traits.
Shedding light on light: benefits of anthropogenic illumination to a nocturnally foraging shorebird
Authors: Dwyer Ross G. , Bearhop Stuart , Campbell Hamish A. , Bryant David M. 
Published: November 2012

Summary
Intertidal habitats provide important feeding areas for migratory shorebirds. Anthropogenic developments along coasts can increase ambient light levels at night across adjacent inter‐tidal zones. Here, we report the effects of elevated nocturnal light levels upon the foraging strategy of a migratory shorebird (common redshank Tringa totanus) overwintering on an industrialised estuary in Northern Europe.
To monitor behaviour across the full intertidal area, individuals were located by day and night using VHF transmitters, and foraging behaviour was inferred from inbuilt posture sensors. Natural light was scored using moon‐phase and cloud cover information and nocturnal artificial light levels were obtained using geo‐referenced DMSP/OLS night‐time satellite imagery at a 1‐km resolution.
Under high illumination levels, the commonest and apparently preferred foraging behaviour was sight‐based. Conversely, birds feeding in areas with low levels of artificial light had an elevated foraging time and fed by touch, but switched to visual rather than tactile foraging behaviour on bright moonlit nights in the absence of cloud cover. Individuals occupying areas which were illuminated continuously by lighting from a large petrochemical complex invariably exhibited a visually based foraging behaviour independently of lunar phase and cloud cover.
We show that ambient light levels affect the timing and distribution of foraging opportunities for redshank. We argue that light emitted from an industrial complex improved nocturnal visibility. This allowed sight‐based foraging in place of tactile foraging, implying both a preference for sight‐feeding and enhanced night‐time foraging opportunities under these conditions. The study highlights the value of integrating remotely sensed data and telemetry techniques to assess the effect of anthropogenic change upon nocturnal behaviour and habitat use.
Compensation and additivity of anthropogenic mortality: life‐history effects and review of methods
Authors: Péron Guillaume 
Published: November 2012

Summary

Demographic compensation, the increase in average individual performance following a perturbation that reduces population size, and, its opposite, demographic overadditivity (or superadditivity) are central processes in both population ecology and wildlife management. A continuum of population responses to changes in cause‐specific mortality exists, of which additivity and complete compensation constitute particular points. The position of a population on that continuum influences its ability to sustain exploitation and predation.
Here I describe a method for quantifying where a population is on the continuum. Based on variance–covariance formulae, I describe a simple metric for the rate of compensation–additivity.
I synthesize the results from 10 wildlife capture–recapture monitoring programmes from the literature and online databases, reviewing current statistical methods and the treatment of common sources of bias.
These results are used to test hypotheses regarding the effects of life‐history strategy, population density, average cause‐specific mortality and age class on the rate of compensation–additivity. This comparative analysis highlights that long‐lived species compensate less than short‐lived species and that populations below their carrying capacity compensate less than those above.
A decision framework for considering climate change adaptation in biodiversity conservation planning
Authors: Oliver Tom H. , Smithers Richard J. , Bailey Sallie , Walmsley Clive A. , Watts Kevin 
Published: November 2012

Summary
General principles of climate change adaptation for biodiversity have been formulated, but do not help prioritize actions. This is inhibiting their integration into conservation planning.
We address this need with a decision framework that identifies and prioritizes actions to increase the adaptive capacity of species. The framework classifies species according to their current distribution and projected future climate space, as a basis for selecting appropriate decision trees.
Decisions rely primarily on expert opinion, with additional information from quantitative models, where data are available. The framework considers in‐situ management, followed by interventions at the landscape scale and finally translocation or ex‐situ conservation.
Synthesis and applications: From eight case studies, the key interventions identified for integrating climate change adaptation into conservation planning were local management and expansion of sites. We anticipate that, in combination with consideration of socio‐economic and local factors, the decision framework will be a useful tool for conservation and natural resource managers to integrate adaptation measures into conservation plans.
Partaking of Archaea to biogeochemical cycling in oxygen‐deficient zones of meromictic saline Lake Faro (Messina, Italy)
Authors: La Cono Violetta , La Spada Gina , Arcadi Erika , Placenti Francesco , Smedile Francesco , Ruggeri Gioacchino , Michaud Luigi , Raffa Carmen , De Domenico Emilio , Sprovieri Mario , Mazzola Salvatore , Genovese Lucrezia , Giuliano Laura , Slepak Vladlen Z. , Yakimov Michail M. 
Published: November 2012

SummaryWe used a combination of molecular and microbiological approaches to determine the activity, abundance and diversity of archaeal populations inhabiting meromictic saline Lake Faro (Messina, Italy). Analysis of archaeal 16S rRNA, amoA, accA and hbd genes and transcripts revealed that sub‐ and anoxic layers of Lake Faro are primarily inhabited by the organisms related to the clusters of Marine Group I.1a of Thaumarchaeota frequently recovered from oxygen‐depleted marine ecosystems. These organisms dominated the metabolically active archaea down to the bottom of the lake, indicating their adaptation to recurrent changes in the levels of water column hypoxia. The upper microaerobic layer of Lake Faro redoxcline has the maximal rates of dark primary production much lower than those of other previously studied pelagic redoxclines, but comparable to the values of meso‐ and bathypelagic areas of Mediterranean Sea. Application of bacterial inhibitors, especially azide, significantly declined the CO2 fixation rates in the low interface and monimolimnion, whereas archaea‐specific inhibitor had effect only in upper part of the redoxcline. Based on these findings, we hypothesize that dark bicarbonate fixation in suboxic zone of Lake Faro results mainly from archaeal activity which is affected by the predicted lack in oxygen in lower layers.