bluuebunny/crossref_metadata_2025_split huggingface dataset:
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Authors: Barbaro Michela , Kotajärvi Maire , Harper Pauline , Floderus Ylva 
Published: January 2013

Abstract
Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals can develop cutaneous symptoms in sun-exposed areas of the skin and/or neuropsychiatric acute attacks. The identification of the genetic defect in VP families is of crucial importance to detect the carrier status which allows counseling to prevent potentially life threatening neurovisceral attacks, usually triggered by factors such as certain drugs, alcohol or fasting.
In a total of 31 Swedish VP families sequence analysis had identified a genetic defect in 26. In the remaining five families an extended genetic investigation was necessary. After the development of a synthetic probe set, MLPA analysis to screen for single exon deletions/duplications was performed.
We describe here, for the first time, two partial deletions within the PPOX gene detected by MLPA analysis. One deletion affects exon 5 and 6 (c.339-197_616+320del1099) and has been identified in four families, most probably after a founder effect. The other extends from exon 5 to exon 9 (c.339-350_987+229del2609) and was found in one family. We show that both deletions are mediated by Alu repeats.
Our findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP.
Withholding or continuing beta-blocker treatment before dipyridamole myocardial perfusion imaging for the diagnosis of coronary artery disease? A randomized clinical trial
Authors: Fallahi Babak , Beiki Davood , Akbarpour Saeed , Gholamrezanezhad Ali , Fard-Esfahani Armaghan , Akhzari Fariba , Izadyar Sina , Esmaeli Javad , Saghari Mohsen , Eftekhari Mohammad 
Published: January 2013

Abstract

Background
Although it has been shown that acute beta-blocker administration may reduce the presence or severity of myocardial perfusion defects with dipyridamole stress, little information is available about the potential effect of chronic beta-blocker treatment on the sensitivity of dipyridamole myocardial perfusion imaging (DMPI).

Methods
As a randomized clinical trial, one hundred twenty patients (103 male and 17 female) with angiographically confirmed CAD who were on long-term beta blocker therapy (≥3 months) enrolled in a randomized clinical trial study. The patients were allocated into two groups: Group A (n=60) in whom the beta-blocker agent was discontinued for 72h before DMPI and Group B (n=60) without discontinuation of beta-blockers prior to DMPI.

Results
No significant difference was noted between the groups concerning age, sex, type of the injected radiotracer and number of involved coronary vessels. The mean rank of total perfusion scores for whole myocardium (irrespective of reversibility or irreversibility) in group B was not significantly different from that of group A, (65.75 vs. 55.25, P=0.096). Regarding the only irreversible perfusion defects, the mean rank of perfusion score in group B was higher than that of group A for whole myocardium (72 vs. 49, P=0.0001); however, no difference was noted between two groups for only reversible perfusion defects (61.0 vs. 60.0, P=0.898). The overall sensitivity of DMPI for the diagnosis of CAD in group A (91.7%) was not statistically different from group B (90%).

Conclusion
Beta-blocker withholding before DMPI did not generally affect the sensitivity of the test for the diagnostic purposes in our study. Thus, beta-blocker withdrawal for just the purpose of diagnostic imaging is not mandatory particularly when medication discontinuation may cause the patients to face increased risk of heart events.
The not-so-neutral role of microRNAs in neutrophil biology
Authors: Gantier Michael P 
Published: January 2013

ABSTRACTThe role of microRNAs (miRNAs) as fine-tuners of gene expression is now well established in most aspects of cellular biology. Critically, it is becoming apparent that characterization of miRNA regulation could further the understanding of elusive cellular processes. Here, I briefly review the current literature assessing the role of miRNAs in the modulation of neutrophil biology and discuss how the definition of such miRNA regulation could help in the better understanding of neutrophil function.
Maternal and Umbilical Cord Levels of T4, FT4, TSH, TPOAb, and TgAb in Term Infants and Neurodevelopmental Outcome at 5.5 Years
Authors: Williams Fiona L. R. , Watson Jennifer , Ogston Simon A. , Visser Theo J. , Hume Robert , Willatts Peter 
Published: January 2013

Abstract

Context:
Relatively little is known in euthyroid populations about the changes in maternal thyroid hormones during pregnancy, the nature of the relationship to cord thyroid hormone levels, and subsequent infant neurodevelopment.

Objectives:
The aim of the study was to describe the relationship between maternal and cord thyroid hormone parameters and to describe their associations with neurodevelopment at 5.5 years.

Design:
We conducted a follow-up of women and their children born at or over 37 weeks' gestation.

Main Outcomes:
We measured maternal levels of TSH, thyroid peroxidase antibody (TPOAb), thyroglobulin antibody (TgAb), T4, and free T4 (FT4) at 10 and 34 weeks and at delivery, and cord levels of T4, FT4, TPOAb, and TgAb. The association of cord thyroid hormone parameters with McCarthy scale scores adjusted for the major confounders of neurodevelopment.

Results:
Fifteen percent of the women were TPOAb-positive, and 12% were TgAb-positive; the proportion of women with mildly elevated TSH levels increased during pregnancy with the maximum (14%) at delivery. Lower perceptual performance and motor scores were found with TgAb-positive women and lower perceptual performance scores with TgAb-positive cord levels; otherwise, unadjusted maternal levels of TPOAb, TgAb, and TSH and unadjusted cord levels of FT4, TPOAb, and TgAb were not associated with neurodevelopment at 5.5 years. Low cord T4 levels were associated with significant increments in four McCarthy scales: General Cognitive Index, Verbal, Quantitative, and Memory scales—increments that persisted after adjustment at 11.4, 7.8, 7.6, and 7.8 points, respectively.

Conclusions:
Lower levels of cord T4 were associated with increments in the McCarthy scales in the domains that tested cognitive and verbal abilities at 5.5 years.
High Impact of FDG-PET/ct in Diagnostic Strategies for Ovarian Cancer
Authors: Zytoon Ashraf Anas , Murakami Koji , Eid Hazem , El-Gammal Mahmoud 
Published: January 2013

Background Ovarian cancer has the highest mortality of all gynecologic malignancies. FDG-PET/CT was proven to be accurate for identification of primary ovarian tumors, regional lymph nodes, and distant metastases. Purpose To evaluate ovarian masses at FDG-PET/CT in correlation with histopathologic findings. Material and Methods Ninety-eight patients underwent whole body FDG-PET/CT examination. Eighty-six patients with primary ovarian cancer and 12 patients with metastatic disease to the ovaries were included. Results PET/CT imaging was true-positive in 87/94 patients with malignant tumors. In 4/4 patients with benign tumors, PET/CT results were true-negative, with sensitivity of 92.6%, specificity 100%, total test accuracy 92.9%. Fifty-seven patients were diagnosed as stage IV ovarian cancer with distant metastasis. Conclusion The anatomical/functional examination by FDG-PET/CT was proven to be valuable in increasing the diagnostic accuracy that can help improve patient management.
Investor Sentiment, Disagreement, and the Breadth–Return Relationship
Authors: Cen Ling , Lu Hai , Yang Liyan 
Published: January 2013

We study the cross-sectional breadth–return relation by assuming that investors subject to market sentiment hold a biased belief in the aggregate. With a dynamic multiasset model, we predict that the breadth–return relationship can be either positive or negative depending on the relative strength of two offsetting forces—disagreement and sentiment. We find evidence consistent with our predictions. The breadth–return relationship is positive when the sentiment effect is small. However, the relationship becomes negative when (i) the time-series variation of market-wide sentiment is high and (ii) the cross-sectional dispersion of firm-specific exposure to market-wide sentiment variation is large. Our unified framework reconciles a few seemingly inconsistent empirical studies in this literature and explains puzzling cross-sectional return patterns observed during the Internet bubble and the subprime crisis periods. This paper was accepted by Brad Barber, finance.
Hypersurfaces of revolution with proportional principal curvatures
Authors: Coll Vincent , Harrison Michael 
Published: January 2013

Abstract
We classify hypersurfaces of revolution for which the principal curvatures are proportional. These hypersurfaces form a one-parameter family indexed by the reals. The subsequent classification unites at least two important families of hypersurfaces of revolution: the generalized catenoids and the equizonal ovaloids.
On the counting of holomorphic discs in toric Fano manifolds
Authors: Cho Cheol-Hyun 
Published: January 2013

Abstract
Open Gromov-Witten invariants in general are not well-defined. We discuss in detail the enumerative numbers of the Clifford torus T2 in ℂP2. For cyclic A∞-algebras, we show that a certain generalized way of counting may be defined up to Hochschild or cyclic boundary elements. In particular we obtain a well-defined function on Hochschild or cyclic homology of a cyclic A∞-algebra, which is invariant under cyclic A∞ homomorphisms. We discuss the example of the Clifford torus T2 and compute the invariant for a specific cyclic cohomology class.
Microstructure and corrosion properties of 5A06 aluminum matrix surface composite fabricated by friction stir processing
Authors: Liu Peng , Sun Qing-zhou , Liu Yan , Sun Qi-lei 
Published: January 2013

Abstract
A novel aluminum matrix surface composite added with an Al-based amorphous was fabricated by friction stir processing (FSP). The surface composite region shows the obvious sandwich structure. It is considered to be a combination of the base metal and the amorphous strip via FSP. A large number of ultrafine-grained structures, which were composed of the α-Al and α-Al amorphous structures can be observed in the surface composite. The average hardness of the surface composite is about HV97, higher than the base metal, which is about HV80. The as-received sample has the highest resistance to corrosion in a salt solution. The surface composite added with the amorphous strip had lower icorr, corrosion current density, and higher passivation current than the surface composite not added with the amorphous strip.
Crystal structure of bis-aqua(μ4-pyridine-2,4,6-tricarboxylato-κ3N,O,O') cerium(III)-water(1:1), {[Ce(ptc)(H2O)2]·H2O}n, C8H8CeNO9
Authors: Zhao Cheng-Qiang , Ou Yang-Miao , Zhao Zhi-Yuan , Yin Xiu-Ju , Jiang Yi-Min 
Published: January 2013

AbstractC8H8CeNO9, monoclinic, P21/c (no. 14), a = 6.8545(8) Å, b = 12.077(1) Å, c = 13.625(2) Å, β = 100.035(1)°, V = 1110.6 Å3, Z = 4, Rgt(F) = 0.0188, wRref(F2) = 0.0480, T = 291 K.
Crystal structure of catena-((μ2-4-amino-3,5-bis(4-pyridyl)-1,2,4-triazole) copper(I)chloride, C12H10ClCuN6
Authors: Xia Daocheng , Feng Feng 
Published: January 2013

Abstract C12H10ClCuN6, monoclinic, P21/n (no. 14), a = 7.7819(4) Å, b = 12.9634(6) Å, c = 12.4449(6) Å, β = 91.456(4)°, V = 1255.0 Å3, Z = 4, Rgt(F) = 0.0474, wRref(F2) = 0.0938, T = 293 K.
Crystal structure of a transition metal Zn(II) complex with 1-phenyl-3- methyl-5-hydroxypyrazole-4-carbaldehyde-(8'-aminoquinoline)- hydrazone, C20H17N5O5Zn
Authors: Zhong Ai-Guo 
Published: January 2013

Abstract C20H17N5O5Zn, monoclinic, P21/n (no. 14), a = 9.036(2) Å, b = 13.917(4) Å, c = 15.964(4) Å, β = 100.265(3)°, V = 1975.4 Å3, Z = 4, Rgt(F) = 0.0422, wRref(F2) = 0.0893, T = 296 K.
Competition, Cultural Geography, and Tonal Space in the Book of Madrigals L’amorosa Ero (1588)
Authors: Bizzarini Marco , Privitera Massimo 
Published: January 2013

Around 1587 the Brescian nobleman Count Marc’Antonio Martinengo di Villachiara, who was renowned for his political and military experience as well as competence in both music and poetry, wrote a madrigal text, set it to music, and sent it to seventeen composers in different parts of Italy. Published under the title of L’amorosa Ero (Brescia, 1588), the collection gives the opportunity to compare some of the most influential composers such as Marenzio, Luzzaschi, Ingegneri, Striggio, and many others. The first part of the article focuses on the historical background to this collection, with special attention given to the musical activities in Brescia and in other cities (Cremona, Verona, Parma, Turin, and Rome). Martinengo’s political and military career and the music patronage of his family are discussed in detail, followed by an in-depth survey of most of the composers of L’amorosa Ero (particularly Alfonso Ferabosco, Claudio Merulo, Marc’Antonio Ingegneri, and Antonio Morsolino) to unveil their personal relationships with Martinengo. The hierarchy of composers represented in the madrigal collection turns out to be quite elaborate and reflects their political relevance in their time. The second part of the article is dedicated to the musical content of the collection. Given that L’amorosa Ero consists of the compositional responses of multiple composers to the same text—which, moreover, they all set in the same mode—the collection offers a unique opportunity to compare composers’ styles. Starting with a close examination of Martinengo’s poem, including its formal and emotional aspects, we follow with a comparative analysis, restricted to the first section of eight emblematic madrigals by Martinengo, Fiorino, Bertani, Ingegneri, Marenzio, Zoilo, Giovannelli, and Luzzaschi. The main analytical tool is the definition of tonal space, that is to say a dynamic articulation of mode that emerges through the interaction of such elements as melodic contour and cadences. Our analysis shows that, despite the limitations of mode and text, the music of the collection is strikingly diverse, ranging from traditional to more innovative styles.
Association of Maltreatment With High-Risk Internet Behaviors and Offline Encounters
Authors: Noll Jennie G. , Shenk Chad E. , Barnes Jaclyn E. , Haralson Katherine J. 
Published: January 2013

OBJECTIVE:
High-risk Internet behaviors, including viewing sexually explicit content, provocative social networking profiles, and entertaining online sexual solicitations, were examined in a sample of maltreated and nonmaltreated adolescent girls aged 14 to 17 years. The impact of Internet behaviors on subsequent offline meetings was observed over 12 to 16 months. This study tested 2 main hypotheses: (1) maltreatment would be a unique contributor to high-risk Internet behaviors and (2) high-quality parenting would dampen adolescents’ propensity to engage in high-risk Internet behaviors and to participate in offline meetings.

METHODS:
Online and offline behaviors and parenting quality were gleaned from 251 adolescent girls, 130 of whom experienced substantiated maltreatment and 121 of whom were demographically matched comparison girls. Parents reported on adolescent behaviors and on the level of Internet monitoring in the home. Social networking profiles were objectively coded for provocative self-presentations. Offline meetings with persons first met online were assessed 12 to 16 months later.

RESULTS:
Thirty percent of adolescents reported having offline meetings. Maltreatment, adolescent behavioral problems, and low cognitive ability were uniquely associated with high-risk Internet behaviors. Exposure to sexual content, creating high-risk social networking profiles, and receiving online sexual solicitations were independent predictors of subsequent offline meetings. High-quality parenting and parental monitoring moderated the associations between adolescent risk factors and Internet behaviors, whereas use of parental control software did not.

CONCLUSIONS:
Treatment modalities for maltreated adolescents should be enhanced to include Internet safety literacy. Adolescents and parents should be aware of how online self-presentations and other Internet behaviors can increase vulnerability for Internet-initiated victimization.
Utility of Hepatic Transaminases in Children With Concern for Abuse
Authors: Lindberg Daniel M. , Shapiro Robert A. , Blood Emily A. , Steiner R. Daryl , Berger Rachel P. ,   for the ExSTRA investigators
Published: January 2013

OBJECTIVE:Routine testing of hepatic transaminases, amylase, and lipase has been recommended for all children evaluated for physical abuse, but rates of screening are widely variable, even among abuse specialists, and data for amylase and lipase testing are lacking. A previous study of screening in centers that endorsed routine transaminase screening suggested that using a transaminase threshold of 80 IU/L could improve injury detection. Our objectives were to prospectively validate the test characteristics of the 80-IU/L threshold and to determine the utility of amylase and lipase to detect occult abdominal injury.METHODS:This was a retrospective secondary analysis of the Examining Siblings To Recognize Abuse research network, a multicenter study in children younger than 10 years old who underwent subspecialty evaluation for physical abuse. We determined rates of identified abdominal injuries and results of transaminase, amylase, and lipase testing. Screening studies were compared by using basic test characteristics (sensitivity, specificity) and the area under the receiver operating characteristic curve.RESULTS:Abdominal injuries were identified in 82 of 2890 subjects (2.8%; 95% confidence interval: 2.3%–3.5%). Hepatic transaminases were obtained in 1538 (53%) subjects. Hepatic transaminases had an area under the receiver operating characteristic curve of 0.87. A threshold of 80 IU/L yielded sensitivity of 83.8% and specificity of 83.1%. The areas under the curve for amylase and lipase were 0.67 and 0.72, respectively.CONCLUSIONS:Children evaluated for physical abuse with transaminase levels &gt;80 IU/L should undergo definitive testing for abdominal injury.
Parental Explicit Heuristics in Decision-making for Children With Life-threatening Illnesses
Authors: Renjilian Chris B. , Womer James W. , Carroll Karen W. , Kang Tammy I. , Feudtner Chris 
Published: January 2013

OBJECTIVE:
To identify and illustrate common explicit heuristics (decision-making aids or shortcuts expressed verbally as terse rules of thumb, aphorisms, maxims, or mantras and intended to convey a compelling truth or guiding principle) used by parents of children with life-threatening illnesses when confronting and making medical decisions.

METHODS:
Prospective cross-sectional observational study of 69 parents of 46 children who participated in the Decision-making in Pediatric Palliative Care Study between 2006 and 2008 at the Children’s Hospital of Philadelphia. Parents were guided individually through a semistructured in-depth interview about their experiences and thoughts regarding making medical decisions on behalf of their ill children, and the transcribed interviews were qualitatively analyzed.

RESULTS:
All parents in our study employed explicit heuristics in interviews about decision-making for their children, with the number of identified explicit heuristics used by an individual parent ranging from tens to hundreds. The heuristics served 5 general functions: (1) to depict or facilitate understanding of a complex situation; (2) to clarify, organize, and focus pertinent information and values; (3) to serve as a decision-making compass; (4) to communicate with others about a complex topic; and (5) to justify a choice.

CONCLUSIONS:
Explicit heuristics played an important role in decision-making and communication about decision-making in our population of parents. Recognizing explicit heuristics in parent interactions and understanding their content and functions can aid clinicians in their efforts to partner with parents in the decision-making process.
Effects of Indigo Carmine on Human Chondrocytes In Vitro
Authors: Zippelius Timo , Hoburg Arnd , Preininger Bernd , Vörös Pauline , Perka Carsten , Matziolis Georg , Röhner Eric 
Published: January 2013

Joint infections following or accompanying superficious soft tissue infections are severe complication in orthopedic surgery. The use of intra-articular blue staining is a helpful method to visualize a fistula and to differentiate between superficial and intra-articular infections. Regarding this clinical implication data about the effects of indigo carmine, a frequently used blue staining substance, on cartilage is missing. The hypothesis of this study was that indigo carmine damages human chondrocytes in a time and concentration dependent manner. Human chondrocytes were isolated from donors with osteoarthritis who were treated with TKA. Cells were cultivated and treated with different concentrations of indigo carmine for 5 and 10 minutes. Morphologic damage was examined by light microscopy. Toxicity was quantified by counting vital cell number and lactate dehydrogenase (LDH) expression. Analysis by light microscopy showed defected cell structure and loss of cell number after treatment with 100% indigo carmine for 10 minutes. Treatment with 10% and 1% indigo carmine showed no significant cell defects and loss of cells. Counting vital cell number showed loss of vital cells after treatment with 100% and 10% indigo carmine for 10 minutes. LDH expression was significantly increased after treatment with 100% indigo carmine.Toxic effects were shown after treatment with indigo carmine. Therefore, it should be used in 1:100 dilution. This is both, sufficient for visualizing a fistula in a possible clinical application and could be protective for chondrocytes.
Spatio‐Temporal Variations in Water Quality of Muttukadu Backwaters, Tamilnadu, India
Authors: Srinivasan Kalpana , Natesan Usha 
Published: January 2013

ABSTRACT: Muttukadu Backwater, located on the east coast of Tamilnadu, is one of healthiest estuarine environments in the region. A study pertaining to seasonal variations in physico‐chemical properties in water was conducted at nine sites of Muttukadu Backwater for a period of one year (January to December 2009). Multivariate statistical techniques, such as cluster analysis and principal component analysis (PCA), were applied to evaluate the variation in water quality of Muttukadu Backwater and to identify pollution sources. In order to analyze water quality, a geographic information systems (GIS) software package, Arc GIS version 9.3, was used (Esri, Redlands, California). An interpolation technique, inverse distance weighting, was used to produce the spatial distribution of water quality parameters over the backwater. The purpose of the technique was to aid in protection of the environment and ecology of the estuary and aid in effective management. In the present study, observed values of salinity, nitrite, nitrate, ammonia, total nitrogen, phosphate, and silicate were significantly high in the estuarine zone. PCA resulted in three factors explaining 75.9% of the total variance. Principal component 1 exhibited a high correlation with significant physico‐chemical variables representing the influence of tidal action and sandbar formation. Principal component 2 represented natural pollution as a result of surface runoff. Principal component 3 represented natural pollution as a result of nutrient pollution.