bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reference percentiles for FEV1 and BMI in European children and adults with cystic fibrosis
Authors: Boëlle Pierre-Yves , Viviani Laura , Busson Pierre-Francois , Olesen Hanne V , Ravilly Sophie , Stern Martin , Assael Baroukh M , Barreto Celeste , Drevinek Pavel , Thomas Muriel , Krivec Uros , Mei-Zahav Meir , Vibert Jean-François , Clement Annick , Mehta Anil , Corvol Harriet 
Published: September 2012

Abstract

Background
The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV1 and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients and for comparison between CF centers or populations. Here, we used a large database of European CF patients to compute CF specific reference equations for FEV1 and BMI, derived CF-specific percentile charts and compared these European data to their nearest international equivalents.

Methods
34859 FEV1 and 40947 BMI observations were used to compute European CF specific percentiles. Quantile regression was applied to raw measurements as a function of sex, age and height. Results were compared with the North American equivalent for FEV1 and with the WHO 2007 normative values for BMI.

Results
FEV1 and BMI percentiles illustrated the large variability between CF patients receiving the best current care. The European CF specific percentiles for FEV1 were significantly different from those in the USA from an earlier era, with higher lung function in Europe. The CF specific percentiles for BMI declined relative to the WHO standard in older children. Lung function and BMI were similar in the two largest contributing European Countries (France and Germany).

Conclusion
The CF specific percentile approach applied to FEV
1
and BMI allows referencing patients with respect to their peers. These data allow peer to peer and population comparisons in CF patients.
Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report
Authors: Guilherme Roberta S , Meloni Vera de FA , Takeno Sylvia S , Pellegrino Renata , Brunoni Decio , Kulikowski Leslie D , Melaragno Maria I 
Published: September 2012

Abstract

Introduction
Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported in the literature. There are only two previous reports of cases where patients with ring chromosome 15 have been followed-up.

Case presentation
We report here on the 20-year clinical and cytogenetic follow-up of a patient with a ring chromosome 15. Our patient, a Caucasoid Asian woman, presented with short stature, microcephaly, minor dysmorphic features, hyperextensible knees, generalized hirsutism, café-au-lait and small hypochromic spots spread over her face and the front of her chest and abdomen, dorsolumbar scoliosis and mild intellectual disability. She was followed-up from the age of eight to 28 years. When she was 27 years old, she was reported by her mother to present with compulsive overeating and an aggressive mood when challenged. Karyotyping revealed that the majority of her cells harbored one normal chromosome and one ring chromosome. Silver staining revealed the presence of the nucleolar organizer region in the ring chromosome. Ring loss and/or secondary aberrations exhibited a slight increase over time, from 4.67% in 1989 to 7.67% in 2009, with the presence of two monocentric rings, cells with interlocked rings, a dicentric ring, and broken or open rings. A genome-wide array technique detected a 5.5Mb deletion in 15q26.2.

Conclusions
We observed that some phenotypic alterations in our patient can be associated with gene loss and haploinsufficiency. Other features may be related to different factors, including ring instability and epigenetic factors.
Bovine fasciolosis at increasing altitudes: Parasitological and malacological sampling on the slopes of Mount Elgon, Uganda
Authors: Howell Alison , Mugisha Lawrence , Davies Juliet , LaCourse E James , Claridge Jennifer , Williams Diana JL , Kelly-Hope Louise , Betson Martha , Kabatereine Narcis B , Stothard J Russell 
Published: September 2012

Abstract

Background
To clarify the extent and putative transmission zone of bovine fasciolosis on the slopes of Mount Elgon, Uganda, conjoint parasitological and malacological surveys, inclusive of inspection of animals at slaughter, were undertaken at increasing altitudes.

Results
A total of 239 cattle were sampled across eight locations ranging in elevation from 1112-2072 m. Faecal material was examined for presence of Fasciola eggs and sera were tested by ELISA for antibodies against Fasciola antigens. Bolstering this, 38 cattle at slaughter from 2 abattoir sites at 1150 m and 1947 m were inspected; in addition, wild buffalo stool (n = 10) opportunistically picked within Mount Elgon National Park (MENP) at 3640 m was examined. By faecal egg detection, prevalence of Fasciola gigantica at low (<1500 m) and high (>1500 m) altitude sites was 43.7% (95% CI 35.4-52.2) and 1.1% (95% CI 0.0-6.0), respectively, while by ELISA was much higher, low altitude - 77.9% (95% CI 69.7-85.4) and high altitude - 64.5% (95% CI 51.3-76.3). The decline in prevalence with increasing altitude was corroborated by abattoir sampling. Thirty seven aquatic habitats, ranging from 1139-3937 m in altitude were inspected for freshwater snails, 12 of which were within MENP. At lower altitudes, Lymnaea (Radix) natalensis was common, and often abundant, but at higher altitudes became much rarer ceasing to be found above 1800 m. On the other hand, Lymnaea (Galba) truncatula was found only at altitudes above 3000 m and within MENP alone. The snail identifications were confirmed by DNA analysis of the ribosomal 18S gene.

Conclusions
Active infections of F. gigantica in cattle are common in lower altitude settings but appear to diminish with increasing elevation. This is likely due to a growing paucity of intermediate hosts, specifically populations of L. natalensis for which a natural boundary of 1800 m appeared. Although F. hepatica was not encountered, the presence of several populations of L. truncatula at elevations over 3000 m point towards a potential transmission zone within MENP should this parasite be introduced.
Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors
Authors: Yip Kevin Y , Cheng Chao , Bhardwaj Nitin , Brown James B , Leng Jing , Kundaje Anshul , Rozowsky Joel , Birney Ewan , Bickel Peter , Snyder Michael , Gerstein Mark 
Published: September 2012

Abstract
Background
Transcription factors function by binding different classes of regulatory elements. The Encyclopedia of DNA Elements (ENCODE) project has recently produced binding data for more than 100 transcription factors from about 500 ChIP-seq experiments in multiple cell types. While this large amount of data creates a valuable resource, it is nonetheless overwhelmingly complex and simultaneously incomplete since it covers only a small fraction of all human transcription factors.

Results
As part of the consortium effort in providing a concise abstraction of the data for facilitating various types of downstream analyses, we constructed statistical models that capture the genomic features of three paired types of regions by machine-learning methods: firstly, regions with active or inactive binding; secondly, those with extremely high or low degrees of co-binding, termed HOT and LOT regions; and finally, regulatory modules proximal or distal to genes. From the distal regulatory modules, we developed computational pipelines to identify potential enhancers, many of which were validated experimentally. We further associated the predicted enhancers with potential target transcripts and the transcription factors involved. For HOT regions, we found a significant fraction of transcription factor binding without clear sequence motifs and showed that this observation could be related to strong DNA accessibility of these regions.

Conclusions
Overall, the three pairs of regions exhibit intricate differences in chromosomal locations, chromatin features, factors that bind them, and cell-type specificity. Our machine learning approach enables us to identify features potentially general to all transcription factors, including those not included in the data.
Rules of engagement: centrosome–nuclear connections in a closed mitotic system
Authors: Leo Meredith , Santino Diana , Tikhonenko Irina , Magidson Valentin , Khodjakov Alexey , Koonce Michael P. 
Published: September 2012

Summary
The assembly of a functional mitotic spindle is essential for cell reproduction and requires a precise coordination between the nuclear cycle and the centrosome. This coordination is particularly prominent in organisms that undergo closed mitosis where centrosomes must not only respond to temporal signals, but also to spatial considerations, e.g. switching from the production of cytoplasmic microtubule arrays to the generation of dynamic intra-nuclear microtubules required for spindle assembly. We utilize a gene knockout of Kif9, a Dictyostelium discoideum Kin-I kinesin, to destabilize the physical association between centrosomes and the nuclear envelope. This approach presents a unique opportunity to reveal temporal and spatial components in the regulation of centrosomal activities in a closed-mitosis organism. Here we report that centrosome–nuclear engagement is not required for the entry into mitosis. Although detached centrosomes can duplicate in the cytoplasm, neither they nor nuclei alone can produce spindle-like microtubule arrays. However, the physical association of centrosomes and the nuclear envelope is required to progress through mitosis beyond prometaphase.
Intracellular chloride channel protein CLIC1 regulates macrophage functions via modulation of phagosomal acidification
Authors: Jiang Lele , Salao Kanin , Li Hui , Rybicka Joanna M. , Yates Robin M. , Luo Xu Wei , Shi Xin Xin , Kuffner Tamara , Tsai Vicky Wang-Wei , Husaini Yasmin , Wu Liyun , Brown David A. , Grewal Thomas , Brown Louise J. , Curmi Paul M. G. , Breit Samuel N. 
Published: September 2012

Intracellular chloride channel protein 1 (CLIC1) is a 241 amino acid protein of the glutathione S transferase fold family with redox and pH dependent membrane association and chloride ion channel activity. Whilst CLIC proteins are evolutionarily conserved in metazoa, indicating an important role, little is known about their biology.CLIC1 was first cloned on the basis of increased expression in activated macrophages. We therefore examined its subcellular localisation in murine peritoneal macrophages by immunofluorescence confocal microscopy. In resting cells, CLIC1 is observed in punctate cytoplasmic structures that do not colocalise with markers for endosomes or secretory vesicles. However, when these macrophages phagocytose serum opsonized zymosan, CLIC1 translocates onto the phagosomal membrane. Macrophages from CLIC1−/− mice display a defect in phagosome acidification as determined by imaging live cells phagocytosing zymosan tagged with the pH sensitive fluorophore Oregon Green. This altered phagosomal acidification was not accompanied by a detectable impairment in phagosomal-lysosomal fusion. However, consistent with a defect in acidification, CLIC1−/− macrophages also displayed impaired phagosomal proteolytic capacity and reduced reactive oxygen species production. Further, CLIC1−/− mice were protected from development of serum transfer induced K/BxN arthritis.These data all point to an important role for CLIC1 in regulating macrophage function via its ion channel activity and suggest it may be a suitable target for the development of anti-inflammatory drugs.
Inverse regulation of target genes at the brink of the BMP morphogen activity gradient
Authors: Ziv Oren , Finkelstein Rutie , Suissa Yaron , Dinur Tama , Deshpande Girish , Gerlitz Offer 
Published: September 2012

Summary
BMP-dependent patterning in the Drosophila melanogaster wing imaginal disc serves as a paradigm to understand how morphogens specify cell fates. The observed profile of the transcriptional response to the graded signal of BMP relies upon two counter-active gradients of pMad and Brinker (Brk). This patterning model is inadequate to explain the expression of target genes, like vestigial and spalt, in lateral regions of the wing disc where BMP signals decline and Brk levels peak. Here, we show that in contrast to the reciprocal repressor gradient mechanism, where Brk represses BMP targets in medial regions, target expression in lateral regions is downregulated by BMP signalling and activated by Brk. Brk induces lateral expression indirectly, apparently through repression of a negative regulator. Our findings provide a model explaining how the expression of an established BMP target is differentially and inversely regulated along the anterior-posterior axis of the wing disc.
Development of Organic Conductors with Self-Assembled Architectures of Biomolecules: Synthesis and Crystal Structures of Nucleobase-Functionalized Tetrathiafulvalene Derivatives
Authors: Murata Tsuyoshi , Miyazaki Eigo , Maki Suguru , Umemoto Yoshikazu , Ohmoto Makoto , Nakasuji Kazuhiro , Morita Yasushi 
Published: September 2012

Abstract
Supramolecular assemblies and charge-transfer complexes of new nucleobase-functionalized tetrathiafulvalene (TTF) derivatives were investigated. Stille-type cross-coupling reaction between tributylstannylated TTF and iodinated nucleobase derivatives yielded mono- and bisnucleobase-substituted TTF derivatives. The electrochemical measurements revealed that the uracil- and cytosine-substituted derivatives possessed strong electron-donating abilities comparable to that of pristine TTF, and the electron-deficient features of adenine and guanine caused high potential shifts of the oxidation waves. In the solution-state electronic spectra, the intramolecular charge-transfer absorption bands were observed at a low-energy region. In the crystal structures, the donor molecules constructed supramolecular polymers by the complementary hydrogen-bonds inherent in nucleobases; a one-dimensional zigzag chain in the adenine-substituted derivative and a linear chain in the bis(uracil)-substituted derivative. The tetracyanoquinodimethane complexes of uracil- and cytosine-substituted derivatives possessed a mixed valence state exhibiting high conductivities (room-temperature conductivities = 10−2–10−1 S cm−1). In the cyananilic acid complexes, cytosine- and adenine-substituted TTF acted as electron-donors and proton-acceptors to yield simultaneous charge- and proton-transfer complexes.
Briarenolides H and I: New 8-Hydroxybriarane Diterpenoids from a Formosan Octocoral Briareum sp. (Briareidae)
Authors: Su Yin-Di , Hwang Tsong-Long , Lin Nai-Cheng , Chen Yung-Husan , Wu Yang-Chang , Sheu Jyh-Horng , Sung Ping-Jyun 
Published: September 2012

Abstract
Chemical investigation on a Formosan octocoral identified as Briareum sp. has led to the isolation of two new 8-hydroxybriarane diterpenoids, briarenolides H (1) and I (2). The structures of briaranes 1 and 2 were established by spectroscopic methods and by comparison of the spectroscopic data with those of known briarane analogues. Briarenolide H (1) was proven to be the first 6-methoxybriarane derivative. Briarenolide I (2) displayed an inhibitory effect on the generation of superoxide anion by human neutrophils.
Dynamic Pricing Competition with Strategic Customers Under Vertical Product Differentiation
Authors: Liu Qian , Zhang Dan 
Published: September 2012

We consider dynamic pricing competition between two firms offering vertically differentiated products to strategic customers who are intertemporal utility maximizers. We show that price skimming arises as the unique pure-strategy Markov perfect equilibrium in the game under a simple condition. Our results highlight the asymmetric effect of strategic customer behavior on quality-differentiated firms. Even though the profit of either firm decreases as customers become more strategic, the low-quality firm suffers substantially more than the high-quality firm. Furthermore, we show that unilateral commitment to static pricing by either firm generally improves profits of both firms. Interestingly, both firms enjoy higher profit lifts when the high-quality firm commits rather than when the low-quality firm commits. This paper was accepted by Yossi Aviv, operations management.
Algebraic supergroups of Cartan type
Authors: Gavarini Fabio 
Published: September 2012

Abstract
I present a construction of connected affine algebraic supergroups 𝐆
V
associated with simple Lie superalgebras 𝔤 of Cartan type and with 𝔤-modules V. Conversely, I prove that every connected affine algebraic supergroup whose tangent Lie superalgebra is of Cartan type is necessarily isomorphic to one of the supergroups 𝐆
V
that I introduced. In particular,
the supergroup associated in this way with

𝔤
=
W
(
n
)

$ \mathfrak {g}= W(n) $

and its standard representation is described.
Optimal shape for a nozzle design problem using an arbitrary
Lagrangian–Eulerian finite element method
Authors: Li Jingzhi , Liu Hongyu 
Published: September 2012

Abstract.
This paper is concerned with the investigation of mathematical and
numerical methods to find the optimal shape of a nozzle by means of
shape optimization. The non-viscous, incompressible potential field
within the nozzle is assumed to satisfy the Laplace PDE with mixed
boundary conditions. We try to track the geometry of the nozzle to
match the resulting velocity field with a prescribed one in some given
critical subdomain. The problem is reformulated as an output least-squares
minimization problem with the nozzle boundary being the control variable. The shape gradient of the cost functional is derived by combining
the adjoint method and the techniques in the Lie derivative framework
proposed by Hiptmair and Li (2012). An arbitrary Lagrangian–Eulerian finite
element method is proposed to numerically solve the problem in an
efficient way. Numerical experiments are presented to demonstrate
the applicability and effectiveness of the proposed method.
Response of Giant Reed (Arundo donax) to Intermittent Shading
Authors: Spencer David F. 
Published: September 2012

AbstractA species' successful invasion into a new site depends on its ability to persist in the local environment. An experiment was conducted to examine the response of giant reed to intermittent periods of shading for 2 yr. Results indicate that giant reed persisted when exposed to significant shading (i.e., 90% reduction of full sun) and that shading also caused changes in a number of plant characteristics, such as stem height, internode length, leaf nitrogen, leaf chlorophyll content, specific leaf area, total leaf area per plant, and leaf life span. Estimates of leaf photosynthetic rates did not differ across shade levels. Giant reed's ability to persist and grow under intermittent low-light conditions implies that plants would be poised to take advantage of sun flecks and disturbances that create gaps within the resident plant community.
Factors in Career Choice among US Nephrologists
Authors: McMahon Gearoid M. , Thomas Lynette , Tucker J. Kevin , Lin Julie 
Published: September 2012

Summary

Background and objectives
There is a projected shortage of kidney specialists, and retention of trainees in nephrology is important. Determining factors that result in choosing a nephrology career could inform future strategies to attract nephrology fellows.

Design, settings, participants, & measurements
An anonymous, internet-based survey was sent to members of the American Society of Nephrology in June 2009. Respondents answered questions about demographics, training background, and career choices.

Results
Of the 3399 members, 913 (23%) returned the survey. Mean age was 51.1±10.5 years, and 46.1% were academic nephrologists. In addition, 38.4% of respondents graduated between 2000 and 2009. Interest in nephrology began early in training, with the intellectual aspects of nephrology, early mentoring, and participation in nephrology electives named as the most common reasons in choosing nephrology. Academic nephrologists were more likely to have participated in research in medical school, have a master’s degree or PhD, and successfully obtained research funding during training. Academic debt was higher among nonacademic nephrologists. Research opportunities and intellectual stimulation were the main factors for academic nephrologists when choosing their first postfellowship positions, whereas geographic location and work-life balance were foremost for nonacademic nephrologists.

Conclusions
These findings highlight the importance of exposing medical students and residents to nephrology early in their careers through involvement in research, electives, and positive mentoring. Further work is needed to develop and implement effective strategies, including increasing early exposure to nephrology in preclinical and clinical years, as well as encouraging participation in research, in order to attract future nephrology trainees.
Foix-Chavany-Marie syndrome caused by a disconnection between the right pars opercularis of the inferior frontal gyrus and the supplementary motor area
Authors: Martino Juan , de Lucas Enrique Marco , Ibáñez-Plágaro Francisco Javier , Valle-Folgueral José Manuel , Vázquez-Barquero Alfonso 
Published: September 2012

Foix-Chavany-Marie syndrome (FCMS) is a rare type of suprabulbar palsy characterized by an automaticvoluntary dissociation of the orofacial musculature. Here, the authors report an original case of FCMS that occurred intraoperatively while resecting the pars opercularis of the inferior frontal gyrus.
This 25-year-old right-handed man with an incidentally diagnosed right frontotemporoinsular tumor underwent surgery using an asleep-awake-asleep technique with direct cortical and subcortical electrical stimulation and a transopercular approach to the insula. While resecting the anterior part of the pars opercularis the patient suffered sudden anarthria and bilateral facial weakness. He was unable to speak or show his teeth on command, but he was able to voluntarily move his upper and lower limbs. This syndrome lasted for 8 days. Postoperative diffusion tensor imaging tractography revealed that connections of the pars opercularis of the right inferior frontal gyrus with the frontal aslant tract (FAT) and arcuate fasciculus (AF) were damaged.
This case supplies evidence for localizing the structural substrate of FCMS. It was possible, for the first time in the literature, to accurately correlate the occurrence of FCMS to the resection of connections between the FAT and AF, and the right pars opercularis of the inferior frontal gyrus. The FAT has been recently described, but it may be an important connection to mediate supplementary motor area control of orofacial movement. The present case also contributes to our knowledge of complication avoidance in operculoinsular surgery. A transopercular approach to insuloopercular gliomas can generate FCMS, especially in cases of previous contralateral lesions. The prognosis is favorable, but the patient should be informed of this particular hazard, and the surgeon should anticipate the surgical strategy in case the syndrome occurs intraoperatively in an awake patient.