bluuebunny/crossref_metadata_2025_split huggingface dataset:
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]
Authors: Schröder Julia C , Läßig Anne K , Galetzka Danuta , Peters Angelika , Castle John C , Diederich Stefan , Zechner Ulrich , Müller-Forell Wibke , Keilmann Annerose , Bartsch Oliver 
Published: February 2013

Abstract

Background
We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous.

Methods and results
Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder.

Conclusions
Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII.
Reaction of pharmacological active tris-(2-hydroxyethyl)ammonium 4-chlorophenylsulfanylacetate with ZnCl2 or NiCl2: first conversion of a protic ionic liquid into metallated ionic liquid
Authors: Mirskova Anna N , Adamovich Sergey N , Mirskov Rudolf G , Schilde Uwe 
Published: February 2013

Abstract
The reaction of pharmacological active protic ionic liquid tris-(2-hydroxyethyl)ammonium 4-chlorophenylsulfanylacetate H+N(CH2CH2OH)3 ∙ (-OOCCH2SC6H4Cl-4) (1) with zinc or nickel chloride in a ratio of 2:1 affords stable at room temperature powder-like adducts [H+N(CH2CH2OH)3]2 ∙ [M(OOCCH2SC6H4Cl-4)2Cl2]2-, M = Zn (2), Ni (3). By recrystallization from aqueous alcohol compound 2 unexpectedly gives Zn(OOCCH2SC6H4Cl-4)2 ∙ 2H2O (4). Unlike 2, compound 3 gives crystals [N(CH2CH2OH)3]2Ni2+ · [-OOCCH2SC6H4Cl-4]2 (5), which have a structure of metallated ionic liquid. The structure of 5 has been proved by X-ray diffraction analysis. It is the first example of the conversion of a protic ionic liquid into potentially biological active metallated ionic liquid (1 → 3 → 5).
Identification of differentially expressed genes in microarray data in a principal component space
Authors: Ospina Luis , López-Kleine Liliana 
Published: February 2013

AbstractMicroarray experiments are often conducted in order to compare gene expression between two conditions. Tests to detected mean differential expression of genes between conditions are conducted applying correction for multiple testing. Seldom, relationships between gene expression and microarray conditions are investigated in a multivariate approach. Here we propose determining the relationship between genes and conditions using a Principal Component Analysis (PCA) space and classifying genes to one of two biological conditions based on their position relative to a direction on the PC space representing each condition.
Identification and functional validation of HPV-mediated hypermethylation in head and neck squamous cell carcinoma
Authors: Lechner Matthias , Fenton Tim , West James , Wilson Gareth , Feber Andrew , Henderson Stephen , Thirlwell Christina , Dibra Harpreet K , Jay Amrita , Butcher Lee , Chakravarthy Ankur R , Gratrix Fiona , Patel Nirali , Vaz Francis , O'Flynn Paul , Kalavrezos Nicholas , Teschendorff Andrew E , Boshoff Chris , Beck Stephan 
Published: February 2013

Abstract
Background
Human papillomavirus-positive (HPV+) head and neck squamous cell carcinoma (HNSCC) represents a distinct clinical and epidemiological condition compared with HPV-negative (HPV-) HNSCC. To test the possible involvement of epigenetic modulation by HPV in HNSCC, we conducted a genome-wide DNA-methylation analysis.

Methods
Using laser-capture microdissection of 42 formalin-fixed paraffin wax-embedded (FFPE) HNSCCs, we generated DNA-methylation profiles of 18 HPV+ and 14 HPV- samples, using Infinium 450 k BeadArray technology. Methylation data were validated in two sets of independent HPV+/HPV- HNSCC samples (fresh-frozen samples and cell lines) using two independent methods (Infinium 450 k and whole-genome methylated DNA immunoprecipitation sequencing (MeDIP-seq)). For the functional analysis, an HPV- HNSCC cell line was transduced with lentiviral constructs containing the two HPV oncogenes (E6 and E7), and effects on methylation were assayed using the Infinium 450 k technology.

Results and discussion
Unsupervised clustering over the methylation variable positions (MVPs) with greatest variation showed that samples segregated in accordance with HPV status, but also that HPV+ tumors are heterogeneous. MVPs were significantly enriched at transcriptional start sites, leading to the identification of a candidate CpG island methylator phenotype in a sub-group of the HPV+ tumors. Supervised analysis identified a strong preponderance (87%) of MVPs towards hypermethylation in HPV+ HNSCC. Meta-analysis of our HNSCC and publicly available methylation data in cervical and lung cancers confirmed the observed DNA-methylation signature to be HPV-specific and tissue-independent. Grouping of MVPs into functionally more significant differentially methylated regions identified 43 hypermethylated promoter DMRs, including for three cadherins of the Polycomb group target genes. Integration with independent expression data showed strong negative correlation, especially for the cadherin gene-family members. Combinatorial ectopic expression of the two HPV oncogenes (E6 and E7) in an HPV- HNSCC cell line partially phenocopied the hypermethylation signature seen in HPV+ HNSCC tumors, and established E6 as the main viral effector gene.

Conclusions
Our data establish that archival FFPE tissue is very suitable for this type of methylome analysis, and suggest that HPV modulates the HNSCC epigenome through hypermethylation of Polycomb repressive complex 2 target genes such as cadherins, which are implicated in tumor progression and metastasis.
Wirkung medizinischer Kompressionsstrümpfe auf die venöse Hämodynamik
Authors: Wienert V. , Marshall M. 
Published: February 2013

ZusammenfassungEinleitung: So sehr sich die Fotoplethysmografie (FPG) in der phlebologischen Alltagspraxis bewährt hat, muss ihr Einsatz für differenzierte wissenschaftliche Fragestellungen – wie z.B. die Wirkung von Medizinischen Kompressionsstrümpfen auf die venöse Hämodynamik – kritisch bewertet werden.Methode: Es erfolgte eine Literaturrecherche.Ergebnisse: Die vorliegenden, vorwiegend älteren Studien zeigen, dass die leichte Verfügbarkeit und Anwendbarkeit der FPG zum großzügigen Einsatz für klinische Studien und zum wenig kritischen Umgang mit den erhobenen Daten verleitet. Grundsätzlich ist die Anwendbarkeit der FPG am bestrumpften Bein sehr problematisch, aber möglicherweise erbringt die Untersuchung durch den angelegten Strumpf hindurch mit Sonden mit sehr hoher Intensität das emittierten Lichts diesbezüglich einen echten Fortschritt, wie an einem Beispiel gezeigt wird. Für präzise klinische und wissenschaftliche Untersuchungen und Messungen kann die Farb-Duplexsonografie und die blutige Venendruckmessung u.E. durch die FPG nicht ersetzt werden.Schlußfolgerung: Bei sorgfältiger Durchfüh-rung und kritischer Bewertung hat die FPG für umfangreichere Studien sicher ihren Stellenwert. Hier besteht wohl weiterer wissenschaftlicher Klärungsbedarf.
Callophyllis cornu-cervi (Perestenko) comb. nov. (Gigartinales, Rhodophyta): re-evaluation of the endemic monotypic genus Ionia from the Sea of Okhotsk based on morphology and molecular evidence
Authors: Klochkova Tatyana A. , Kim Gwang Hoon , Klochkova Nina G. , Belij Mihail N. , Boo Ga Hun , Boo Sung Min 
Published: February 2013

Abstract
The monotypic kallymeniacean genus Ionia established as Iona cornu-cervi is endemic to the Sea of Okhotsk. We observed the type material of the species deposited in the Komarov Botanical Institute of the Russian Academy of Sciences (LE, St. Petersburg, Russia) and compared it with fresh collections near the type locality. Analysis of the rbcL dataset revealed that I. cornu-cervi was not distinct from other genera of the Kallymeniaceae but consistently nested within the genus Callophyllis and formed a sister relationship with Callophyllis variegata. Here, we propose the new combination Callophyllis cornu-cervi based on I. cornu-cervi and treat the genus Ionia as a synonym of Callophyllis. Callophyllis cornu-cervi is distinguished by a thallus with many slightly convoluted segments positioned at an angle to each other, forming an erect and more or less rigid plant, and a medulla composed of intermingled large and small cells.
The Oseen–Navier–Stokes flow in the exterior of a rotating obstacle: The non-autonomous case
Authors: Hansel Tobias , Rhandi Abdelaziz 
Published: February 2013

Abstract

Consider the incompressible Navier–Stokes flow past a rotating obstacle with
a general time-dependent angular velocity and a time-dependent
outflow condition at infinity – sometimes called an Oseen condition. By a suitable change
of coordinates the problem is transformed to a non-autonomous problem with unbounded drift terms
on a fixed exterior domain

Ω
⊂

ℝ

d

$\Omega \subset {\mathbb {R}}^d$

. It is shown that the solution to the linearized problem is governed by a strongly
continuous evolution system

{

T
Ω

(
t
,
s
)

}

t
≥
s
≥
0

$\lbrace T_\Omega (t,s)\rbrace _{t\ge s\ge 0}$

on

L
σ
p

(
Ω
)

$L^p_\sigma (\Omega )$

for

1
<
p
<
∞

$1&lt;p&lt;\infty $

. Moreover, Lp
-Lq

smoothing properties and gradient estimates of

T
Ω

(
t
,
s
)

$T_\Omega (t,s)$

,

0
≤
s
≤
t

$0\le s \le t$

, are obtained. These results are the key ingredients to
show local in time existence of mild solutions to the full nonlinear problem for initial value in

L
σ
p

(
Ω
)

$L^p_\sigma (\Omega )$

, p ≥ d.
Asymptomatic elevation of liver enzymes due to levetiracetam: a case report
Authors: Sethi Nitin K. , Sethi Prahlad K. , Torgovnick Josh , Arsura Edward , Cukierwar Frances 
Published: February 2013

Abstract
Levetiracetam is a commonly used broad-spectrum anticonvulsant efficacious in both partial and generalized seizures. It has an extremely favorable side effect profile with few drug-drug interactions, low potential for hematological and hepatic toxicity, and thus has rapidly become the preferred drug in patients with traumatic brain injuries who need seizure prophylaxis. We report, here, a patient who was started on levetiracetam for seizure prophylaxis after developing large bifrontal-parietal traumatic subdural hematomas (SDH) following a fall from a horse necessitating bifrontal craniotomies for evacuation. The patient developed an asymptomatic elevation of the liver enzymes. The liver enzymes trended back to normal after levetiracetam was stopped, and topiramate was initiated in its place.
Evidence Theory and Fuzzy Relational Calculus in Estimation of Health Effects Due to Air Pollution
Authors: Yadav Jyoti , Kharat Vilas , Deshpande Ashok 
Published: February 2013

Abstract.With an overall objective of establishing association between air pollutants
and incidence of respiratory diseases, the environmental professionals and
medical practitioners have made significant contribution, using statistical
mechanics in modelling epidemiological data, population characteristics, and
pollution parameters. Broadly speaking, the studies have shown that the
increase in vehicular traffic has been one of the causes of respiratory
diseases. However, the WHO Centre for Environment and Health, Europe in its 2005 document states:
“There is little evidence for a causal relationship between asthma
prevalence/incidence and air pollution in general, though the evidence is
suggestive of a causal association between the prevalence/incidence of
asthma symptoms and living in close proximity to traffic”.
Decision making process in a real world is invariably based on perceptions
which are expressed in words or may be in numeric terms and not in
probability terms. In the paper, we made an attempt to model the perceptions
of experienced pulmonologists in arriving at their combined degree of
belief/plausibility/ignorance for all the possible combinations of
identified respiratory diseases, using evidence theory and fuzzy relational
calculus without collecting sizeable parametric data accumulated over a
period of years.
Tightening pollution norms by the regulatory authorities is an overall
objective of the global efforts on greenhouse gases (GHS) reduction in
general, and air pollution mitigation in particular. The concept of solar
battery operated electric vehicles (SBOEV) for road transport is advocated,
initially for two/three wheelers, and extending it to four wheelers,
especially in the developing countries.
A New Apparatus for Evaluation of Contact Erosion at the Soil–Structure Interface
Authors: Luo YuLong , Jin Xi , Li Xiang , Zhan MeiLi , Sheng JinChang 
Published: February 2013

Abstract
The interface between clay core-wall and concrete cut-off wall is one of the weakest parts of high earth and rockfill dams. An unsuitable design can cause contact erosion at the interface or shear failure surfaces, and eventually this will harm the safety of the dam. A new soil–structure contact erosion apparatus was developed for the evaluation of contact erosion at the interface under high stress, high hydraulic head, and large shear deformation. It consists of a soil–structure model base, a seepage pressure system, a confining pressure system, an axial pressure system, and a data acquisition system. The seepage pressure system simulates the seepage erosion effect at the interface, and the maximum seepage pressure is 2.0 MPa. The confining and axial pressure systems simulate the triaxial stress state of the interface and the large shear deformation of the soil structure; the maximum confining and axial pressures are 2.0 MPa and 4.0 MPa, respectively. The data acquisition system can monitor pore pressure dissipation and settlement. Two repeatable experiments on the interface between a kind of highly plastic clay and a concrete cut-off wall were conducted to verify the scientific utility of the new apparatus. The new apparatus was found to be capable of yielding fairly consistent results in repeatable experiments. The new apparatus will prove an effective tool for studying a reasonable connection form of concrete cut-off wall and core wall in high earth and rockfill dams.
Fatigue Cyclic Tests on Artificially Cemented Soil
Authors: Viana da Fonseca A. , Rios S. , Amaral M. F. , Panico F. 
Published: February 2013

Abstract
Artificially cemented soils are frequently used in the infrastructural layers of road or railway platforms but the durability of these structures is often questioned when subjected to cyclic loads. In order to evaluate the fatigue behavior, this paper presents long cyclic triaxial tests over several soil cement mixtures using a very well graded silty sand and Portland cement. In undrained cemented tests, pore pressure decreased as a sign of plastic degradation, resulting that the effective stresses rose during the tests. For that reason, the resilient moduli were normalized to the effective stress, revealing a clear drop on the normalized resilient modulus at a number of cycles depending on the porosity/cement ratio. Notwithstanding, drained and undrained tests presented in this paper performed in uncemented and cemented specimens showed a distinct behavior from granular materials (where the shakedown theory applies) revealing a continuous increase in the accumulated permanent deformations, indicating that long term cyclic triaxial tests, with large number of cycles, may be decisive for a reliable characterization of cyclic triaxial test for bound mixtures.
Prevalence of Childhood Celiac Disease and Changes in Infant Feeding
Authors: Ivarsson Anneli , Myléus Anna , Norström Fredrik , van der Pals Maria , Rosén Anna , Högberg Lotta , Danielsson Lars , Halvarsson Britta , Hammarroth Solveig , Hernell Olle , Karlsson Eva , Stenhammar Lars , Webb Charlotta , Sandström Olof , Carlsson Annelie 
Published: February 2013

OBJECTIVES:
Between 1984 and 1996, Sweden experienced an “epidemic” of clinical celiac disease in children &lt;2 years of age, attributed partly to changes in infant feeding. Whether infant feeding affects disease occurrence and/or the clinical presentation remains unknown. We investigated and compared the total prevalence of celiac disease in 2 birth cohorts of 12-year-olds and related the findings to each cohort’s ascertained infant feeding.

METHODS:
A 2-phase cross-sectional screening study was performed in which 13 279 children from 2 birth cohorts participated: children born during the epidemic (1993) and children born after the epidemic (1997). Previously diagnosed cases were reported and confirmed. Blood samples were analyzed for serological markers and children with positive values were referred for small intestinal biopsy. Infant feeding practices in the cohorts were ascertained via questionnaires. Prevalence comparisons were expressed as prevalence ratios.

RESULTS:
The total prevalence of celiac disease was 29 in 1000 and 22 in 1000 for the 1993 and 1997 cohorts, respectively. Children born in 1997 had a significantly lower risk of having celiac disease compared with those born in 1993 (prevalence ratio: 0.75; 95% confidence interval: 0.60–0.93; P = .01). The cohorts differed in infant feeding (specifically, in the proportion of infants introduced to dietary gluten in small amounts during ongoing breastfeeding).

CONCLUSIONS:
A significantly reduced prevalence of celiac disease in 12-year-olds indicates an option for disease prevention. Our findings suggest that the present infant feeding recommendation to gradually introduce gluten-containing foods from 4 months of age, preferably during ongoing breastfeeding, is favorable.
Parity and Out-of-Pocket Spending for Children With High Mental Health or Substance Abuse Expenditures
Authors: Barry Colleen L. , Chien Alyna T. , Normand Sharon-Lise T. , Busch Alisa B. , Azzone Vanessa , Goldman Howard H. , Huskamp Haiden A. 
Published: February 2013

OBJECTIVE:
The Paul Wellstone and Pete Domenici Mental Health Parity and Addiction Equity Act required health plans to provide mental health and substance use disorder (MH/SUD) benefits on par with medical benefits beginning in 2010. Previous research found that parity significantly lowered average out-of-pocket (OOP) spending on MH/SUD treatment of children. No evidence is available on how parity affects OOP spending by families of children with the highest MH/SUD treatment expenditures.

METHODS:
We used a difference-in-differences study design to examine whether parity reduced families’ (1) share of total MH/SUD treatment expenditures paid OOP or (2) average OOP spending among children whose total MH/SUD expenditures met or exceeded the 90th percentile. By using claims data, we compared changes 2 years before (1999–2000) and 2 years after (2001–2002) the Federal Employees Health Benefits Program implemented parity to a contemporaneous group of health plans that did not implement parity over the same 4-year period. We examined those enrolled in the Federal Employees Health Benefits Program because their parity directive is similar to and served as a model for the new federal parity law.

RESULTS:
Parity led to statistically significant annual declines in the share of total MH/SUD treatment expenditures paid OOP (−5%, 95% confidence interval: −6% to −4%) and average OOP spending on MH/SUD treatment (−$178, 95% confidence interval: −257 to −97).

CONCLUSIONS:
This study provides the first empirical evidence that parity reduces the share and level of OOP spending by families of children with the highest MH/SUD treatment expenditures; however, these spending reductions were smaller than anticipated and unlikely to meaningfully improve families’ financial protection.
Nanoantibiotic Particles for Shape and Size Recognition of Pathogens
Authors: Borovicka Josef , Stoyanov Simeon D. , Paunov Vesselin N. 
Published: February 2013

ABSTRACTWe have developed a novel class of colloidal particles capable of shape and size recognition as well as specific binding to the target cells. These colloid particles were fabricated using a nanoimprinting technology which yields inorganic imprints of the chosen target microorganisms. The products of the templating process are partially fragmented inorganic shells which can selectively bind to their biological counterparts, therefore impairing microbial cell growth, replication and infection. We have named this class of particles, which are capable of selectively recognizing bacterial shape and size, “nanoantibiotics”, which can be further functionalized to kill the target cells. The selective binding is driven by the increased area of contact upon recognition of the cell shape and size between the cells and their matching inorganic shell fragments. Here, we demonstrate the cell recognition and binding action of such particles using two different microbial test organisms.
Multi-GPU Parallelization of Nested Factorization for Solving Large Linear Systems
Authors: Zhou Y , Tchelepi H. A. 
Published: February 2013

Abstract
We describe a massively parallel Nested Factorization (NF) linear solver for large systems of equations. NF is a powerful classic preconditioner receiving renewed attention due to its potential on emerging parallel architectures, especially Graphics Processing Units (GPUs). We build on the Massively Parallel NF (MPNF) framework described by Appleyard et al. (2011). MPNF divides the threedimensional grid into ‘kernels’, assigns each kernel a color, such that no neighboring kernels share the same color. Parallelism is exploited by operating on all the kernels of a given color simultaneously and cycling through the NF operations color by color.
Our MPNF algorithm is designed with special attention to asynchronous CPU-to-GPU memory transfer during the setup phase. Moreover, a CUDA-based BiCGStab Krylov solver and a customized ‘reduction kernel’ with greater bandwidth are used. The key features of the algorithm are: 1) a special ordering of the matrix elements that maximizes coalesced access to GPU global memory and speeds up kernel execution by several folds, 2) application of twisted factorization, which increases the number of concurrent threads at no additional cost, and (3) extension to multiple GPUs by first solving the so-called halo region in each GPU and overlapping peer-to-peer memory transfer between GPUs with solution of the interior regions.
The GPU-based NF solver is demonstrated using several large problems, and we breakdown the performance details of all the algorithmic components. For the SPE10 model (highly heterogeneous with over one million cells) on a 512-core Tesla M2090 GPU, our implementation achieves a speed up of 26 for single-precision and 19 for double-precision computations compared with a single core of the Xeon X5660 CPU. Moreover, the (3072-core) 6-GPU solution of a highly refined SPE10 model (26.9 million cells) is more than five times faster than the single-GPU solution.