bluuebunny/crossref_metadata_2025_split huggingface dataset:
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Authors: Lind Lisbet K , Stecksén-Blicks Christina , Lejon Kristina , Schmitt-Egenolf Marcus 
Published: November 2006

Abstract

Background
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis.

Methods
The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED.

Results
A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X), thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene.

Conclusion
The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.
Musculoskeletal disorders in shipyard industry: prevalence, health care use, and absenteeism
Authors: Alexopoulos Evangelos C , Tanagra Dimitra , Konstantinou Eleni , Burdorf Alex 
Published: November 2006

Abstract

Background
It is unclear whether the well-known risk factors for the occurrence of musculoskeletal disorders (MSD) also play an important role in the determining consequences of MSD in terms of sickness absence and health care use.

Methods
A cross-sectional study was conducted among 853 shipyard employees. Data were collected by questionnaire on physical and psychosocial workload, need for recovery, perceived general health, occurrence of musculoskeletal complaints, and health care use during the past year. Retrospective data on absenteeism were also available from the company register.

Results
In total, 37%, 22%, and 15% of employees reported complaints of low back, shoulder/neck, and hand/wrist during the past 12 months, respectively. Among all employees with at least one MSD, 27% visited a physician at least once and 20% took at least one period of sick leave. Various individual and work-related factors were associated with the occurrence of MSD. Health care use and absenteeism were strongest influenced by chronicity of musculoskeletal complaints and comorbidity with other musculoskeletal complaints and, to a lesser extent, by work-related factors.

Conclusion
In programmes aimed at preventing the unfavourable consequences of MSD in terms of sickness absence and health care use it is important to identify the (individual) factors that determine the development of chronicity of complaints. These factors may differ from the well-know risk factors for the occurrence of MSD that are targeted in primary prevention.
Pathway analysis of kidney cancer using proteomics and metabolic profiling
Authors: Perroud Bertrand , Lee Jinoo , Valkova Nelly , Dhirapong Amy , Lin Pei-Yin , Fiehn Oliver , Kültz Dietmar , Weiss Robert H 
Published: November 2006

Abstract

Background
Renal cell carcinoma (RCC) is the sixth leading cause of cancer death and is responsible for 11,000 deaths per year in the US. Approximately one-third of patients present with disease which is already metastatic and for which there is currently no adequate treatment, and no biofluid screening tests exist for RCC. In this study, we have undertaken a comprehensive proteomic analysis and subsequently a pathway and network approach to identify biological processes involved in clear cell RCC (ccRCC). We have used these data to investigate urinary markers of RCC which could be applied to high-risk patients, or to those being followed for recurrence, for early diagnosis and treatment, thereby substantially reducing mortality of this disease.

Results
Using 2-dimensional electrophoresis and mass spectrometric analysis, we identified 31 proteins which were differentially expressed with a high degree of significance in ccRCC as compared to adjacent non-malignant tissue, and we confirmed some of these by immunoblotting, immunohistochemistry, and comparison to published transcriptomic data. When evaluated by several pathway and biological process analysis programs, these proteins are demonstrated to be involved with a high degree of confidence (p values < 2.0 E-05) in glycolysis, propanoate metabolism, pyruvate metabolism, urea cycle and arginine/proline metabolism, as well as in the non-metabolic p53 and FAS pathways. In a pilot study using random urine samples from both ccRCC and control patients, we performed metabolic profiling and found that only sorbitol, a component of an alternative glycolysis pathway, is significantly elevated at 5.4-fold in RCC patients as compared to controls.

Conclusion
Extensive pathway and network analysis allowed for the discovery of highly significant pathways from a set of clear cell RCC samples. Knowledge of activation of these processes will lead to novel assays identifying their proteomic and/or metabolomic signatures in biofluids of patient at high risk for this disease; we provide pilot data for such a urinary bioassay. Furthermore, we demonstrate how the knowledge of networks, processes, and pathways altered in kidney cancer may be used to influence the choice of optimal therapy.
Assessing responsiveness of generic and specific health related quality of life measures in heart failure
Authors: Eurich Dean T , Johnson Jeffrey A , Reid Kimberly J , Spertus John A 
Published: November 2006

Abstract

Background
Responsiveness, or sensitivity to clinical change, is an important consideration in selection of a health-related quality of life (HRQL) measure for trials or clinical applications. Many approaches can be used to assess responsiveness, which may affect the interpretation of study results. We compared the relative responsiveness of generic and heart failure specific HRQL instruments, as measured both by common psychometric indices and by external clinical criteria.

Methods
We analyzed data collected at baseline and 6-weeks in 298 subjects with heart failure on the following HRQL measures: EQ-5D (US, UK, and VAS Scoring), Kansas City Cardiomyopathy Questionnaire (KCCQ) (Clinical and Overall Summary Score), and RAND12 (Physical and Mental Component Summaries). Three external indicators of clinical change were used to classify subjects as improved, deteriorated, or unchanged: 6-minute walk test, New York Heart Association (NYHA) class, and physician global rating of change. Four responsiveness statistics (T-test, effect size, Guyatt's responsiveness statistic, and standardized response mean) were used to evaluate the responsiveness of the select measures. The median rank of each HRQL measure across responsiveness indices and clinical criteria was then determined.

Results
Average age of subjects was 60 years, 75 percent were male, and had moderate to severe heart failure symptoms. Overall, the KCCQ Summary Scores had the highest relative ranking, irrespective of the responsiveness index or external criterion used. Importantly, we observed that the relative ranking of responsiveness of the generic measures (i.e. EQ-5D, RAND12) was influenced by both the responsive indices and external criterion used.

Conclusion
The disease specific KCCQ was the most responsive HRQL measure assessing change over a 6-week period, although generic measures provide information for which the KCCQ is not suitable. The responsiveness of generic HRQL measures may be affected by the index used, as well as the external criterion to classify patients who have clinically change or remained stable.
Themes of the Young Hero in Serbocroatian Oral Epic Tradition
Authors: Bynum David E. 
Published: November 2006

AbstractNovice heroes in modern Serbocroatian oral epic tradition present the same scholarly problems as does Telemachus in Homer's Odyssey. In this Balkan narrative tradition, only a small number of epics has been recorded in which the novices and their stories are the main substance. The Yugoslav singer Avdo Međedović performed one of these by dictation for Milman Parry in Bijelo Polje, Yugoslavia, in 1935: The Marriage of Mehmed, Son of Smailaga. That song of 12,311 verses is one of the two longest epics recorded from Serbocroatian tradition. By thematic analysis of it and eight other Serbocroatian epics of initiation representing the full range of the initiation story's multiformity, we can establish that Avdo's epic song is an orthodox telling of the traditional story in spite of its extraordinary, Homeric size, and that both the ancient Greek legends of Theseus (in Plutarch and Apollodorus) and Homer's story of Telemachus are thematically indistinguishable from it. The content of a common Balkan mythic tradition underlying the ancient Greek and modern Serbocroatian stories can be described, and the traditional correctness of Telemachus' presence in the Odyssey can be explained from Yugoslav tellings of the Telemachia.
José Hierro's “Para un esteta”
Authors: Bary David 
Published: November 2006

AbstractThe 1952 poem is commonly read as a manifesto of Spain's contemporary “social” poets and as an expression of their aversion to the estheticism of a previous poetic generation. The “esthete” addressed in the poem seems at first glance to be an obvious caricature of Juan Ramón Jiménez. The “esthete,” on closer examination, differs significantly from Jiménez in several respects. Jiménez shares neither his interest in abstract beauty divorced from existential concerns nor his overly refined, “literary” language. The only real point of identity between Jiménez and the “esthete” lies in their shared concern for the “Obra” as a substitute for personal immortality; but even that concern is typical of only one period in Jiménez' career. A comparison between Jiménez and Hierro reveals no such clear contrast in their approaches to poetry as that implied by Hierro between himself and the “esthete.” The latter turns out to be a straw man reflecting some aspects of Jiménez, some of the vanguard poets of the twenties, and something of a half-hidden visionary side of Hierro himself. Hierro seems to have invented the “esthete” as a means of affirming his own poetic individuality, a maneuver which was surely unnecessary in view of the fact that by 1952 Hierro already possessed an unmistakably personal style.
Thomas Mann's “Gladius Dei”
Authors: Hoffmann Ernst Fedor 
Published: November 2006

AbstractMann's story, often considered only a minor companion piece to the play Fiorenza, is significant in itself as a satire on the intellectual attitudes prevalent in Munich around 1900. The story begins with a general description of Munich which, though apparently independent, is in fact connected to the later parts by the use of sophisticated narrative techniques. This description also contains topical references and details which show that the artistic and intellectual community of Munich, in its admiration for the Italian Renaissance, is enacting a quasi neo-Renaissance. Into this realistic setting Mann then places a fictional hero who feels he is called to assume the task of a Savonarola for his time. A grotesque scene results which exposes the spuriousness of the Renaissance cult. In presenting the satire, Mann employs means and forms which seem to be forerunners of his later leitmotifs, “gelebte Vita,” parody, and others. The devices in “Gladius Dei,” however, have specific, mostly rhetorical functions within the story, whereas their later counterparts often have far-reaching symbolic meaning.
Marlowe and God: The Tragic Theology of Dr. Faustus
Authors: Ornstein Robert 
Published: November 2006

AbstractTo appreciate Dr. Faustus as cosmic tragedy, it is necessary to relate its particular view of man and God to other works of Marlowe and to the atheistic doctrines attributed to him by his contemporaries. It is also necessary to reexamine scholarly assumptions about Marlowe, whose mind was perhaps more medieval than modern, and whose view of experience was often more antihumanistic than humanistic. Obsessed with the thought of man's impotence before the power of time and death, Marlowe was attracted to the idea of man's transcendent will. But he intuited very early the inhumanity of absolute or superhuman power. Recognizing the horror of his own conception of the divine, he juxtaposed in Dr. Faustus Faustus and Christ, first as moral antitheses and then as complementary sacrifices to an implacable God. To attempt to read Dr. Faustus as an orthodox homily is to succeed only in stripping it of its tragic grandeur and metaphysical terror. To view it, however, as Marlowe's ultimate religious and cosmological statement—as his turning upon his ideal of transcendence—is to grasp the full meaning of Faustus' despair and to grasp also the final congruence of Marlowe's art and life.
Milton's Participial Style
Authors: Chatman Seymour 
Published: November 2006

AbstractThe English participles, present and past, are best interpreted grammatically as transformations from underlying sentences in which they were regular predicates. Interesting ambiguities and quasi-ambig-ities sometimes occur in Milton as a result of these and related transformations. Present participles tend to be active, narrative-furthering devices; past participles, expository, historical devices. Milton's practice changed from a heavier use of the present to a heavier use of the past participle. This is clear evidence of his growing Latinity. One esthetic consequence was a more compact exposition than had characterized earlier narrative poetry, with a greater density of historical implication. The heavy use of past participles also coincided well with the philosophical intention of Paradise Lost of explaining God's ways to man, since many times the implicit (but deleted) subject of the past participle is “God.” Thus God tends to be grammatically, as well as philosophically, omnipresent though hidden.
The Genesis of the Strozza Subplot in George Chapman's The Gentleman Usher
Authors: Smith John Hazel 
Published: November 2006

AbstractGeorge Chapman's source for every important incident in the Strozza subplot of The Gentleman Usher was Chapter x of De Abditis Nonnullis ac mirandis morborum & sanationum causis liber, a collection of medical case histories written in Latin by Antonio Benivieni, a fifteenth-century Florentine physician and associate of Ficino. Both works are informed with Neo- Platonism. Chapman took from Benivieni's work several key phrases and in cidental details. Possibly echoing Italian political names, he added a villain, Medice, and changed the name of the protagonist from Gaspar to Strozza; to establish a Platonic parallel with Vincentio and Margaret of the main plot, he replaced Gaspar's spiritual counselor, a friend named Marioctus, with a wife, Cynanche, who serves the same function. The names Strozza and Cynanche contribute significant lexical meanings to the play: strozza is Italian for “throat,” and κυνάγχη Greek for both “sore throat” and “dog collar”; primarily, Cynanche is a collar to her husband in the common Renaissance symbol of discipline. Poetic elaboration aside, Chapman's only other important alteration was to allow Strozza to retain, in an apparently weakened form, the prophetic gift which Gaspar lost immediately after his miraculous cure.
Dialectical Studies in West Virginia
Authors: Primer Sylvester 
Published: November 2006

In studying the language or pronunciation of any section of the country, it is necessary first of all to trace back the history of the people inhabiting it to the earliest beginnings in order to explain understandingly the dialectical peculiarities of its grammar or pronunciation. I shall, therefore, preface my remarks on the linguistic peculiarities of this region with a brief sketch of its earliest settlements and later development.The earlier history of Western Virginia, now known as West Virginia, begins a century later than that of Eastern Virginia, or Virginia proper. In 1710 Alexander Spotswood, a Scotchman, was the deputy governor of the Colony of Virginia.
The Characteristics of Style
Authors: Spofford A. R. 
Published: November 2006

Before a society whose members are so largely teachers of language, and conversant with the art of writing, it would be superfluous to insist upon the value of style as an element of power in literature. As the thoughts of the mind involve the highest of human interests, what can be more important than their fit expression ? What are the enduring books, of which the reading world calls for continually new editions ? Invariably they are the books which are the best written. The sense of the world is keen and the survival of the fittest is as certain as that art is long. Considering that most books are written by sciolists or else by ignoramuses, and by authors who have never learned the rudiments of literary art, is it any wonder that they nearly all perish almost as soon as they are born ? Perfection in style, indeed, is rarely or never found. As Alexander Smith sought through all literature—and sought in vain,—for“A poem round and perfect as a star,”so the perfect style is far to seek and hard to find. Style is not merely, as some conceive, manner independent of matter; it is not merely the dress of thought, but the living body of thought itself.
Learnèd and Learn'd
Authors: Hempl George 
Published: November 2006

This paper is a part of a larger study on the general subject, ‘The Loss or Retention of Weak Syllables in English,’ which I shall publish at a later time.It is well known that there are words like aged, blessed, learned, in which the e is silent if the word is a participle, but is sounded if the word is an adjective. I am not aware that an explanation of this interesting phenomenon has been offered, other than the usual untenable one that it is “in order to distinguish” the parts of speech. It is my object in this paper to show (1) that this, as well as certain closely related phenomena, is based on the fact that our speech prefers a rhythm consisting of syllables alternately strong and weak, and (2) that this has produced different results in the adjective from what it has in the participle because the usual position of the adjective with reference to the other members of the sentence is not that generally occupied by the participle.
High Molar Extinction Coefficient Ion‐Coordinating Ruthenium Sensitizer for Efficient and Stable Mesoscopic Dye‐Sensitized Solar Cells
Authors: Kuang D. , Klein C. , Ito S. , Moser J.‐E. , Humphry‐Baker R. , Zakeeruddin S. M. , Grätzel M. 
Published: November 2006

AbstractRu(4,4‐dicarboxylic acid‐2,2′‐bipyridine) (4,4′‐bis(2‐(4‐(1,4,7,10‐tetraoxyundecyl)phenyl)ethenyl)‐2,2′‐bipyridine) (NCS)2, a new high molar extinction coefficient ion‐coordinating ruthenium sensitizer was synthesized and characterized using 1H NMR, Fourier transform IR (FTIR), and UV/vis spectroscopies and cyclic voltammetry. Using this sensitizer in combination with a nonvolatile organic‐solvent‐based electrolyte, we obtain a photovoltaic efficiency of 8.4 % under standard global AM 1.5 sunlight. These devices exhibit excellent stability when subjected to continuous thermal stress at 80 °C or light soaking at 60 °C for 1000 h. An electrochemical impedance spectroscopy study revealed that device stability is maintained by stabilizing the TiO2/dye/electrolyte and Pt/electrolyte interface during the aging process. The influence of Li+ present in the electrolyte on the device photovoltaic parameters was studied, and the FTIR spectral and photovoltage transient study showed that Li+ coordinates to the triethyleneoxide methylether side chains on the K60 sensitizer molecules.
Study of Martensitic Phase Transformation in a NiTiCu Thin‐Film Shape‐Memory Alloy Using Photoelectron Emission Microscopy
Authors: Cai M. , Langford S. C. , Wu M. , Huang W. , Xiong G. , Droubay T. C. , Joly A. G. , Beck K. M. , Hess W. P. , Dickinson J. T. 
Published: November 2006

AbstractThermally induced martensitic phase transformation in a polycrystalline NiTiCu thin‐film shape‐memory alloy is probed using photoelectron emission microscopy (PEEM). In situ PEEM images reveal distinct changes in microstructure and photoemission intensity at the phase‐transition temperatures. In particular, images of the low‐temperature, martensite phase are brighter than that of the high‐temperature, austenite phase, because of the lower work function of the martensite. UV photoelectron spectroscopy shows that the effective work‐function changes by about 0.16 eV during thermal cycling. In situ PEEM images also show that the network of trenches observed on the room‐temperature film disappears suddenly during heating and reappears suddenly during subsequent cooling. These trenches are also characterized using atomic force microscopy at selected temperatures. The implications of these observations with respect to the spatial distribution of phases during thermal cycling in this thin‐film shape‐memory alloy are discussed.
Role of Nanoscale Strain Inhomogeneity on the Light Emission from InGaN Epilayers
Authors: de Sousa Pereira S. M. , O'Donnell K. P. , da Costa Alves E. J. 
Published: November 2006

AbstractInGaN is the basis of a new generation of light‐emitting devices, with enormous technological potential; it is currently one of the most intensively studied semiconductor materials. It is generally accepted that compositional fluctuations resulting from phase segregation are the origin of the high luminescence efficiency of InGaN. Evidence to show that nanoscale strain inhomogeneity plays a fundamental role in determining the spectral properties of InGaN–GaN heterostructures is reported. For layers above a certain critical thickness, a strong spatially varying strain profile accompanies a nonplanar surface morphology, which is associated with a transition from a planar 2D to a Stranski–Krastanow‐like 2D–3D growth mode; the strong dependence of the critical thickness on the local InN content of the growing films drives a non‐linear growth instability. Within this framework, apparently disparate experimental observations regarding structural and optical properties, previously reported for InGaN layers, are reconciled by a simple phenomenological description.
In defense of clinical judgment … and mechanical prediction
Authors: Dana Jason , Thomas Rick 
Published: November 2006

AbstractDespite over 50 years of one‐sided research favoring formal prediction rules over human judgment, the “clinical‐statistical controversy,” as it has come to be known, remains something of a hot‐button issue. Surveying the objections to the formal approach, it seems the strongest point of disagreement is that clinical expertise can be replaced by statistics. We review and expand upon an unfortunately obscured part of Meehl's book to try to reconcile the issue. Building on Meehl, we argue that the clinician provides information that cannot be captured in, or outperformed by, mere frequency tables. However, that information is still best harnessed by a mechanical prediction rule that makes the ultimate decision. Two original studies support our arguments. The first study shows that multivariate prediction models using no data other than clinical speculations can perform well against statistical regression models. Study 2, however, showed that holistic predictions were less accurate than predictions made by mechanically combining smaller judgments without input from the judge at the combination stage. While we agree that clinical expertise cannot be replaced or neglected, we see no ethical reason to resist using explicit, mechanical rules for socially important decisions. Copyright © 2006 John Wiley & Sons, Ltd.