bluuebunny/crossref_metadata_2025_split huggingface dataset:
EARLYDRAIN- outcome after early lumbar CSF-drainage in aneurysmal subarachnoid hemorrhage: study protocol for a randomized controlled trial
Authors: Bardutzky Jürgen , Witsch Jens , Jüttler Eric , Schwab Stefan , Vajkoczy Peter , Wolf Stefan 
Published: September 2011

Abstract

Background
Aneurysmal subarachnoid hemorrhage (SAH) may be complicated by delayed cerebral ischemia, which is a major cause of unfavorable clinical outcome and death in SAH-patients. Delayed cerebral ischemia is presumably related to the development of vasospasm triggered by the presence of blood in the basal cisterns. To date, oral application of the calcium antagonist nimodipine is the only prophylactic treatment for vasospasm recognized under international guidelines.
In retrospective trials lumbar drainage of cerebrospinal fluid has been shown to be a safe and feasible measure to remove the blood from the basal cisterns and decrease the incidence of delayed cerebral ischemia and vasospasm in the respective study populations. However, the efficacy of lumbar drainage has not been evaluated prospectively in a randomized controlled trial yet.

Methods/Design
This is a protocol for a 2-arm randomized controlled trial to compare an intervention group receiving early continuous lumbar CSF-drainage and standard neurointensive care to a control group receiving standard neurointensive care only. Adults suffering from a first aneurysmal subarachnoid hemorrhage whose aneurysm has been secured by means of coiling or clipping are eligible for trial participation. The effect of early CSF drainage (starting < 72 h after securing the aneurysm) will be measured in the following ways: the primary endpoint will be disability after 6 months, assessed by a blinded investigator during a personal visit or standardized telephone interview using the modified Rankin Scale. Secondary endpoints include mortality after 6 months, angiographic vasospasm, transcranial Doppler sonography (TCD) mean flow velocity in both middle cerebral arteries and rate of shunt insertion at 6 months after hospital discharge.

Discussion
Here, we present the study design of a multicenter prospective randomized controlled trial to investigate whether early application of a lumbar drainage improves clinical outcome after aneurysmal subarachnoid hemorrhage.

Trial registration
www.clinicaltrials.gov Identifier: NCT01258257
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
Authors: Smith Katherine R , Bromhead Catherine J , Hildebrand Michael S , Shearer A Eliot , Lockhart Paul J , Najmabadi Hossein , Leventer Richard J , McGillivray George , Amor David J , Smith Richard J , Bahlo Melanie 
Published: September 2011

AbstractMany exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses.
Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome
Authors: Saintenac Cyrille , Jiang Dayou , Akhunov Eduard D 
Published: September 2011

Abstract
Background
The ability of grass species to adapt to various habitats is attributed to the dynamic nature of their genomes, which have been shaped by multiple rounds of ancient and recent polyploidization. To gain a better understanding of the nature and extent of variation in functionally relevant regions of a polyploid genome, we developed a sequence capture assay to compare exonic sequences of allotetraploid wheat accessions.

Results
A sequence capture assay was designed for the targeted re-sequencing of 3.5 Mb exon regions that surveyed a total of 3,497 genes from allotetraploid wheat. These data were used to describe SNPs, copy number variation and homoeologous sequence divergence in coding regions. A procedure for variant discovery in the polyploid genome was developed and experimentally validated. About 1% and 24% of discovered SNPs were loss-of-function and non-synonymous mutations, respectively. Under-representation of replacement mutations was identified in several groups of genes involved in translation and metabolism. Gene duplications were predominant in a cultivated wheat accession, while more gene deletions than duplications were identified in wild wheat.

Conclusions
We demonstrate that, even though the level of sequence similarity between targeted polyploid genomes and capture baits can bias enrichment efficiency, exon capture is a powerful approach for variant discovery in polyploids. Our results suggest that allopolyploid wheat can accumulate new variation in coding regions at a high rate. This process has the potential to broaden functional diversity and generate new phenotypic variation that eventually can play a critical role in the origin of new adaptations and important agronomic traits.
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
Authors: Brownstein Zippora , Friedman Lilach M , Shahin Hashem , Oron-Karni Varda , Kol Nitzan , Rayyan Amal Abu , Parzefall Thomas , Lev Dorit , Shalev Stavit , Frydman Moshe , Davidov Bella , Shohat Mordechai , Rahile Michele , Lieberman Sari , Levy-Lahad Ephrat , Lee Ming K , Shomron Noam , King Mary-Claire , Walsh Tom , Kanaan Moien , Avraham Karen B 
Published: September 2011

Abstract
Background
Identification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted DNA capture and massively parallel sequencing are ideal tools to address this challenge. Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity.

Results
A custom 1.46 MB design of cRNA oligonucleotides was constructed containing 246 genes responsible for either human or mouse deafness. Paired-end libraries were prepared from 11 probands and bar-coded multiplexed samples were sequenced to high depth of coverage. Rare single base pair and indel variants were identified by filtering sequence reads against polymorphisms in dbSNP132 and the 1000 Genomes Project. We identified deleterious mutations in CDH23, MYO15A, TECTA, TMC1, and WFS1. Critical mutations of the probands co-segregated with hearing loss. Screening of additional families in a relevant population was performed. TMC1 p.S647P proved to be a founder allele, contributing to 34% of genetic hearing loss in the Moroccan Jewish population.

Conclusions
Critical mutations were identified in 6 of the 11 original probands and their families, leading to the identification of causative alleles in 20 additional probands and their families. The integration of genomic analysis into early clinical diagnosis of hearing loss will enable prediction of related phenotypes and enhance rehabilitation. Characterization of the proteins encoded by these genes will enable an understanding of the biological mechanisms involved in hearing loss.
Unique Gene Expression Profile Associated with an Early-Onset Multiple Endocrine Neoplasia (MEN1)-Associated Pituitary Adenoma
Authors: Farrell William E. , Azevedo Monalisa F. , Batista Dalia L. , Smith Alastair , Bourdeau Isabelle , Horvath Anelia , Boguszewski Margaret , Quezado Martha , Stratakis Constantine A. 
Published: September 2011

AbstractContext:Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown.Objective:The aim of the study was to identify the pediatric MEN1-associated pituitary tumor transcriptome.Patients and Methods:A patient harboring a MEN1 mutation (c.525C&gt;G; p.H139D) who presented with an early-onset mammosomatotroph pituitary adenoma was studied. Microarray analysis was performed in the tumor sample and compared with the profile observed in normal pituitaries and in a sporadic mammosomatotropinoma. Validation of the microarray results was performed using quantitative real-time PCR and immunohistochemical analysis for selected genes.Results:In the MEN1-associated pituitary adenoma, 59 and 24 genes were found to be significantly up- and down-regulated, respectively. The up-regulated genes included those involved in cell growth and maintenance, apoptosis, growth arrest, and tumorigenesis. Moreover, we observed decreased expression in genes neuroendocrine in nature and related to growth or apoptosis. Only 21 of the 59 genes differentially expressed in the MEN1-associated adenoma showed a similar expression profile to that seen in the sporadic mammosomatotropinoma; for some genes an opposite expression profile was observed.Conclusions:We identified changes in the transcriptome that occur in pituitary GH- and PRL-producing cells after the loss of menin expression; some of the gene changes are necessary for tumor evolution, and others may be tertiary. Nevertheless, the rare overlap between the expression profiles of the MEN1 tumor vs. that of its sporadic counterpart suggests that these tumors evolve along different molecular pathways.
Lower Free Thyroxin Associates with a Less Favorable Metabolic Phenotype in Healthy Pregnant Women
Authors: Bassols Judit , Prats-Puig Anna , Soriano-Rodríguez Pilar , García-González María Mar , Reid Joanna , Martínez-Pascual María , Mateos-Comerón Fátima , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel 
Published: September 2011

Context:
A lower free T4 (fT4), within the euthyroid range, has been shown in adults to associate with an adverse metabolic phenotype. Thyroid physiology changes significantly during gestation and affects maternal and fetal well-being.

Objective:
The aim of the study was to test the hypothesis that a lower serum fT4 in healthy euthyroid pregnant women is related to a less favorable metabolic phenotype and to fetal or placental weight.

Design, Setting, Patients, and Outcome Measures:
We examined associations of thyroid function tests (TSH and fT4) and the free T3 (fT3)-to-fT4 ratio (as a proxy of deiodinase activity) with a metabolic profile [preload and postload glucose, glycosylated hemoglobin (HbA1c), high molecular-weight (HMW)-adiponectin, homeostasis model of assessment for insulin resistance (HOMA-IR), and serum lipids] in 321 healthy pregnant women. All women were euthyroid and had negative anti-thyroid peroxidase antibodies. None received thyroid hormone replacement. Blood tests were performed in women between 24 and 28 wk gestation. Placentas and newborns were weighed at birth.

Results:
Circulating TSH did not relate to metabolic parameters, but decreasing fT4 and increasing fT3-to-fT4 ratio associated with a less favorable metabolic phenotype, as judged by higher postload glucose, HbA1c, fasting insulin, HOMA-IR, and triglycerides, and by a lower HMW-adiponectinemia (all P ≤ 0.005). In multiple regression analyses, fT4 was independently associated with HbA1c (β = −0.135; P = 0.038), HMW-adiponectin (β = 0.218; P &lt; 0.001), and placental weight (β = −0.185; P &lt; 0.005), whereas the fT3-to-fT4 ratio was independently associated with maternal body mass index (β = 0.265; P &lt; 0.001), HMW-adiponectinemia (β = −0.237; P &lt; 0.002), HOMA-IR (β = 0.194; P = 0.014), and placental weight (β = 0.174; P = 0.020).

Conclusion:
In pregnant women without a history of thyroid dysfunction, lower concentrations of fT4 and a higher conversion of fT4 to fT3, as inferred by changes in the fT3-to-fT4 ratio, were found to be associated with a less favorable metabolic phenotype and with more placental growth.
The 1001 Seances
Authors: Sedgwick Eve Kosofsky 
Published: September 2011

This essay, written in 1976–77, is concerned primarily with James Merrill's long poem “The Book of Ephraim,” which was published in 1976. The poem tells of many nights spent by Merrill and his partner, David Jackson, in communication with a spirit named Ephraim, whose messages they spell out on a Ouija board. The poem also includes fragments of a second story, a retelling of a lost novel of Merrill's.
In her essay Sedgwick talks about the poem's structure, likening the spacing of fragments of Ephraim's voice throughout the poem with the spacing of fragments of the lost novel, but she contrasts the pointedness of the novel's plot with the looser repetitious structure of the poem's nightly séances. To show that this pointedness is characteristic of Merrill's novelistic writing, Sedgwick also looks at two actual novels that Merrill had published years earlier, The Seraglio (1957) and The (Diblos) Notebook (1965). In both novels, as well as in the lost novel embedded in the poem, the plot is dominated by a central, climactic, sadomasochistic scene of real or symbolic castration.
Sedgwick distinguishes the fixity of this novelistic theme of castration from a different thematic range in the poem's language, which has to do “with the behaviors of liquids, with currents, obstruction, diffusion, and circulation.” She explores this thematic range in the relation between Ephraim and his mediums, Merrill and Jackson, in which there is more play, variously shifting among flattery, voyeurism, gossip, pedagogy, love, fear, and neglect. The thematics of liquids, she suggests, includes the thematics of fixation but does not synthesize it. “It spaces, distributes, circulates it.”
There is, she says, a formal impartiality to the distribution throughout this long poem of its many disparate elements, but there is also an awareness of wastage, of moments “intently and beautifully” improved, “then how quickly squandered.” Sedgwick suggests that Merrill's long poem is formally exciting because it is “so knowing, so inventive, and so trusting about that wastage.” Sedgwick is describing the poem itself when she quotes it as saying that Merrill and Jackson, through their Ouija board séances with Ephraim, became “a set of / Quasi-grammatical constructions which / Could utter some things clearly, forcibly, / Others not.”
Developing the “Christian Gentleman”: The Medieval Impulse in Protestant Ministry to Adolescent Boys, 1890–1920
Authors: Setran David P. 
Published: September 2011

AbstractBetween 1890 and 1920 in the United States, Protestant ministers demonstrated increasing concern for boys between the ages of twelve and eighteen. In particular, they described a two-fold “boy problem,” defined both in terms of heightened juvenile delinquency and passive effeminacy. This essay analyzes one of the chief ways in which church leaders attempted to combat these issues: the development of Christian boy ministries rooted in the stories and themes of medieval knighthood. Looking at the use of such themes in Protestant literature and in new church organizations such as the Knights of King Arthur and the Knights of the Holy Grail, this article reveals why medievalism had such power and resonance in this era. In part, the symbolic use of the Middle Ages fit well with emerging psychological theories of adolescent development. According to G. Stanley Hall and other proponents of racial recapitulation, adolescent boys were instinctually driven by a need to join their medieval forebears in fighting battles, worshiping heroes, and forming romantic relationships marked by love and chivalry. In addition, the medieval knight emerged as the ideal exemplar for dealing with both aspects of the early twentieth-century boy problem. While boys struggled with moral decadence and effeminate weakness, knights were both morally refined and confidently virile. In the end, I argue that the proliferation of medieval themes in this period reflected a growing consensus regarding the “ideal Christian man.” While uncontrolled masculine expression produced the violent man, and the suppression of masculine expression produced the weak man, carefully channeled masculine expression would produce the “knightly” man, the ideal “Christian gentleman” capable of pursuing purity and virtue through manly and aggressive means.
The Preachers’ Blues: Religious Race Records and Claims of Authority on Wax
Authors: Walton Jonathan L. 
Published: September 2011

AbstractAs one of the first nonessential commodities marketed to African Americans, the race record industry provides historical insight into the cultural ethos and competing ethical values of black communities during the interwar period. Both ethnomusicologists and historians have discussed the ways race records articulate intraracial conflicts that were exacerbated by social factors such as migration and urbanization. But like all forms of mass culture, religious records served multiple purposes and were interpreted by listeners at varying registers. For many, religious recordings were spiritually edifying and liberating, just as they were wildly entertaining. And some may feel that these religious recordings contested the aesthetic values of the black middle class even as they reinforced prescriptive bourgeois behavioral codes. While the purpose of this essay is not to give voice to the listeners of religious race records, this essay does offer an initial attempt to illumine the broader cultural contexts in which these records, namely, recorded sermons, were both produced and consumed toward providing tenable interpretations of these recordings based on resonant religious beliefs and meanings of the historical moment. This essay is concerned with such questions as: What theological and political discourses were these preachers participating in on wax? What cultural symbols, explicit and implicit, did these preachers commonly reference? And what were the possible ideological implications of these cultural significations? Despite the many interpretive possibilities of recorded sermons and even the “folk” aesthetic that defines them, this essay suggests that the religious race record industry served as a productive force in encouraging systems of social control over raced, classed, and gendered bodies during the interwar era. And the industry’s decision to focus on theologically conservative sermons stressing personal piety cast a powerful ballot in the cultural debates concerning the style, content, and purpose of black preaching in the previous century.
Transcatheter aortic valve replacement (TAVI) — Risk factors for 90-day-mortality
Authors: Bauernschmitt R. 
Published: September 2011

Abstract
Transcatheter aortic valve implantation (TAVI) has emerged as a promising new treatment option for patients being “too sick” for surgery, with an almost exponentially increasing number of cases done in the recent years. While procedural success is satisfying in any series reported, there still is a lack of information concerning proper patient selection for these procedures. All operations were performed at the Dept. of Cardiovascular Surgery, German Heart Center Munich. From July 2007 to February 2010, a total of 368 patients had transcatheter procedures, 300 of them completed the 90-day-follow-up. Their mean age was 81+/−6 years, 62.7% of them being female. The CoreValve prosthesis was implanted in 213 patients (71%), the femoral route was predominantly used (65%). Among preoperative characteristics, only advanced NYHA-class and tricuspid regurgitation more than moderate were indicators for increased 90-day-mortality. TAVI has become an increasingly safe alternative to open heart aortic valve replacement in patients at high risk for conventional surgery. While there still is room for improvement of intraprocedural steps, the only predictive risk factors for 90-day-mortality were NYHA class IV and high grade tricuspid insufficiency, thus indicating that TAVI puts the patient at an unaccountable high risk.
Increased sympathetic activity can cause repolarization instability in athlete's heart
Authors: Komka Zsolt , Bosnyák E. , Trájer E. , Protzner A. , Major Zs. , Pavlik G. , Tóth M. , Udvardy A. 
Published: September 2011

Abstract
Sudden cardiac death (SCD) of athletes usually occurs during warm-up or shortly after training. At this point sympathetic tone is still elevated but oxygen demand does not differ from resting levels. It is supposed not to have a primarily ischemic origin but most likely relates to repolarization abnormalities which can be associated with intracellular cAMP level caused by increased sympathetic tone. The mediators of sympathetic nervous system are the catecholamines (epinephrin, norepinephrin). Measuring QT-dispersion can show the repolarization's inhomogeneity. 27 elite soccer players, 28 triathletes and 29 non-trained control person took part in our study. It was recorded cardiac ultrasound, an ECG and taken blood before and after exercise. We found significantly higher QT-dispersion and catecholamines in soccer players compared to the triathletes and the controls. However the soccer players did not show larger athlete's heart than the triathletes. After exercise the increased repolarization inhomogeneity persisted in soccer players, but in triathletes it decreased. Increased sympathetic tone in athletes can enhance arrhythmia propensity. Our data may explain why the soccer players die of sudden cardiac death most commonly in Europe.
Real-time three-dimensional transesophageal echocardiography-guided atrial fibrillation ablation procedure
Authors: Kutyifa Valentina , Merkely B. , Nagy V. K. , Apor A. , Zima E. , Gellér L. 
Published: September 2011

Abstract

Background
Real-time three-dimensional transesophageal echocardiography (RT 3D TEE) is a novel method providing high spatial and temporal resolution imaging of the heart. During pulmonary vein isolation procedures visualization of the atria, interatrial septum and the ablation catheter is of high importance to increase safety. RT 3D TEE might be a useful tool to guide left atrial ablations.

Case report
A 53-year-old man was referred to our hospital to undergo pulmonary vein isolation procedure for the treatment of symptomatic drug-refractory paroxysmal atrial fibrillation. The transseptal puncture was performed under RT 3D TEE-guidance with direct visualization of the interatrial septum and fossa ovalis. RT 3D TEE provided a three-dimensional view of the puncture with “tenting”-sign and the transseptal needle-fossa ovalis angle enhancing the manipulation of the ablation catheter within the left atrium. The ablation catheter was visualized and tracked during the procedure. No adverse events occurred during the procedure.

Conclusion
Our case report demonstrates the feasibility of RT 3D TEE-guided atrial fibrillation ablation procedures. Safety profile might be improved by the real-time direct view of fossa ovalis. Decrease in fluoroscopy time can be achieved by visualizing the ablation catheter during the procedure.