bluuebunny/crossref_metadata_2025 huggingface dataset:
Solid-State [2+2] Photodimerization and Photopolymerization of α,ω-Diarylpolyene Monomers: Effective Utilization of Noncovalent Intermolecular Interactions in Crystals
Authors: Sonoda Yoriko
Published: December 2010

[2+2] Photocycloaddition of olefins is a very useful reaction in synthetic organic chemistry to obtain cyclobutane-containing molecules, which are almost inaccessible by other methods. The reaction, when performed in the crystalline state, occurs more efficiently and selectively than in homogeneous solution due to tight and regular molecular arrangement in the crystal state. Despite numerous examples for the solid-state [2+2] photodimerization of monoenes, however, it is still a challenge to prepare not only dimers but also higher oligomers and polymers from conjugated polyenes, which have multiple reactive double bonds in a molecule. In our recent studies of the solid-state photoreactions of α,ω-diarylpolyenes, noncovalent intermolecular interactions in crystals were effectively utilized to prealign molecules in stacking arrangements, suitable for the [2+2] reaction. With appropriate ring-substituents, [2+2] photodimerization and photopolymerization of the polyenes took place, although the degree of polymerization was relatively low. This review will describe the details of these reactions.
A Featureless Approach to 3D Polyhedral Building Modeling from Aerial Images
Authors: Hammoudi Karim , Dornaika Fadi
Published: December 2010

This paper presents a model-based approach for reconstructing 3D polyhedral building models from aerial images. The proposed approach exploits some geometric and photometric properties resulting from the perspective projection of planar structures. Data are provided by calibrated aerial images. The novelty of the approach lies in its featurelessness and in its use of direct optimization based on image rawbrightness. The proposed framework avoids feature extraction and matching. The 3D polyhedral model is directly estimated by optimizing an objective function that combines an image-based dissimilarity measure and a gradient score over several aerial images. The optimization process is carried out by the Differential Evolution algorithm. The proposed approach is intended to provide more accurate 3D reconstruction than feature-based approaches. Fast 3D model rectification and updating can take advantage of the proposed method. Several results and evaluations of performance from real and synthetic images show the feasibility and robustness of the proposed approach.
Highly substituted benzannulated cyclooctanol derivatives by samarium diiodide-induced cyclizations
Authors: Saadi Jakub , Brüdgam Irene , Reissig Hans-Ulrich
Published: December 2010

A series of γ-oxo esters suitably substituted with various styrene subunits was subjected to samarium diiodide-induced 8-endo-trig cyclizations. Efficacy, regioselectivity and stereoselectivity of these reactions via samarium ketyls strongly depend on the substitution pattern of the attacked alkene moiety. The stereoselectivity of the protonation of the intermediate samariumorganyl is also influenced by the structural features of the substrates. This systematic study reveals that steric and electronic factors exhibited by the alkene and ketone subunits are of high importance for the outcome of these cyclization reactions leading to highly substituted benzannulated cyclooctanol derivatives. In exceptional cases, 7-exo-trig cyclizations to cycloheptanol derivatives have been observed. In examples with high steric hindrance the ketyl–aryl coupling can be a competing process.
Intrasubject Repeatability of Internal Aberrometry Obtained With a New Integrated Aberrometer
Authors: Piñero David P. , Juan Javier Tomás , Alió Jorge L.
Published: December 2010

PURPOSE:

To evaluate the intrasubject repeatability of the internal aberrometry obtained with a new integrated aberrometer in a sample of normal eyes to assess its clinical usefulness.

METHODS:

Twenty-six healthy eyes of 26 participants, aged 20 to 50 years, were included in the study. All eyes achieved corrected distance visual acuity of 1.0 (Snellen decimal notation) and did not undergo previous ocular surgeries. Three consecutive measurements of internal aberrations were obtained with the KR-1W system (Topcon Corp) by an experienced examiner. Intrasubject repeatability for 4- and 6-mm pupils was evaluated by the within-subject standard deviation (S
w
) and intraclass correlation coefficient (ICC).

RESULTS:

Low values of S
w
and values of ICC close to 1 were found for the 4-mm pupil astigmatism and for several aberrometric coefficients: primary spherical aberration and higher order, third order, and trefoil root-mean-square (RMS). Significant correlations of the S
w
for the 4-mm pupil higher order aberrations RMS with the magnitude of different aberrometric coefficients were found (r≥0.611,
P
<.01). In addition, tetrafoil RMS for 4-mm pupils correlated significantly with the S
w
for some higher order errors (r≥0.675,
P
<.01). Significantly larger values of S
w
for 6-mm pupils were found for trefoil (
P
<.01) and secondary astigmatism RMS (
P
=.02).

CONCLUSIONS:

The KR-1W provided repeatable measurements of internal astigmatism and some higher order aberrations, although consistency of such measurements appears to be limited by the level of aberration.
Synergistic Effects of Ultraviolet A/Riboflavin and Glucose on Corneal Collagen Cross-Linking
Authors: Xia Yu , Tao Chen , Zhou Chuanqing , Ren Qiushi
Published: December 2010

Purpose:

To investigate the possible synergistic effect of ultraviolet A (UVA)/riboflavin and glucose on corneal collagen cross-linking (CXL) by means of the mechanical properties and thermal shrinkage temperatures.

Methods:

Forty rabbits were divided into four groups: control group; UVA/glucose group; UVA/riboflavin group; and UVA/riboflavin/glucose group. After the treatments, the mechanical properties and thermal shrinkage temperatures of the corneal strips were analyzed to determine the CXL effects of corneal collagen induced by different treatments.

Results:

Compared with the control group and other experimental groups, the UVA/riboflavin/glucose group showed significant alterations of the biomechanical properties. The ultimate stress value for the UVA/riboflavin/glucose group was increased by 120%, ultimate strain decreased by 80%, and Young’s modulus increased by 70% relative to the control group. An increase in ultimate stress by 24.5%, a decrease in ultimate strain by 34%, and an increase in Young’s modulus by 17.4% were found in the UVA/riboflavin/glucose group compared to the UVA/riboflavin group. A significant increase in thermal shrinkage temperatures was also noted after corneal collagen CXL induced by UVA/riboflavin/glucose relative to other groups.

Conclusions:

The combination of glucose and UVA/riboflavin may synergistically induce corneal collagen CXL, resulting in increased mechanical strength of corneal collagen.
“Capturing” Sound: The Phonograph in (Early) Folk Music Research
Authors: Lechleitner Gerda
Published: December 2010

Even though folk music collections rich in written documents had existed for a long time, it was the invention of sound recording that – from today’s point of view – marked the “real” beginnings of folk music research and added an entirely new aspect to the discipline. However, although the use of a recording machine was undisputed in the field of ethnomusicology – and indeed a prerequisite, as stated in the motion to establish the Vienna Audiovisual Research Archive – some folk music researchers had serious doubts whether such an apparatus would be necessary at all, fearing that it might “destroy” the music recorded and render it “lifeless.” Today, after 100 years of sound recording, we must distinguish between speech (real sound) and writing, between commercial and research recordings, and recordings made for different purposes and reflecting different needs. This paper deals with the change in folk music research since the very first recordings, the influence and acceptance of the new technology, and aspects of the historical framework.
***
Čeprav so zbirke ljudske glasbe v pisni obliki obstajale že dolgo, je iznajdba zvočnega snemanja – z današnjega gledišča – označevala “resnične” začetke raziskovanja ljudske glasbe in je vedi dodala popolnoma nov vidik. Uporaba snemalne naprave na področju etnomuzikologije sicer ni bila vprašljiva – pravzaprav je bila predpogoj, kot je izraženo v predlogu za ustanovitev dunajskega Phonogrammarchiva –, vendar so imeli nekateri raziskovalci ljudske glasbe resne pomisleke, ali je takšna naprava sploh potrebna, saj so se bali, da bi lahko ‘uničila’ posneto glasbo. Danes, po sto letih glasbenega dokumentiranja, razlikujemo med govorom (resničnim zvokom) in zapisom, med komercialnimi in raziskovalnimi posnetki, med posnetki za različne namene in posnetki, ki so odraz različnih situacij. Prispevek obravnava spremembe v raziskovanju ljudske glasbe od prvih posnetkov, vpliv in sprejem nove tehnologije, upošteva pa tudi zgodovinski okvir.
Bosnian Urban Traditional Song in Transformation: From Ludvik Kuba to Electronic Medias
Authors: Karača Beljak Tamara
Published: December 2010

This article focuses on the transformation process and changes in the manners of interpretation undergone by Bosnian traditional urban song from its emergence, through the first melographic transcriptions in late 19th century – that is, from Ludvik Kuba’s times – through the development of electronic media.
***
Prispevek obravnava proces transformacije in spremembe interpretativnih načinov tradicionalne pesmi v urbanem bosanskem okolju od nastanka preko prvih notnih zapisov konec 19. stoletja, torej časa Ludvika Kube, pa vse do razvoja elektronskih medijev.
The Legacy of Singer Hamdija Šahinpašić in Bosniac Oral Literary Tradition
Authors: Maglajlić Munib
Published: December 2010

Hamdija Šahinpašić (1914–2003) was one of those rare individuals able to memorize songs in their authentic traditional form. Šahinpašić belonged to a family known for its songs. In the early 1950s, Miodrag A. Vasiljević recorded Šahinpašić singing dozens of songs at the Serbian Academy of Arts and Sciences in Belgrade. A 1967 publication finally included 300 of his songs, published bilingually in Bosnian and Russian. Šahinpašić himself became the focus of attention of numerous ethnomusicologists and folklorists and his repertoire was preserved on recordings of good quality.
***
Hamdija Šahinpašić (1914-2003) je bil eden redkih posameznikov, ki so si sposobni zapomniti pesmi v njihovi avtentični tradicionalni obliki. Šahinpašić je pripadal znani pevski družini. Miodrag A. Vasiljević je v začetku petdesetih let 20. stol. v prostorih Srbske akademije znanosti in umetnosti posnel številne pesmi, ki jih je pel Šahinpašić. V dvojezično bosansko-rusko izdajo je leta 1967 vključil 300 njegovih pesmi. Sam Šahinpašić je postal središče zanimanja številnih etnomuzikologov in folkloristov, tako da je njegov repertoar ohranjen na kvalitetnih posnetkih.
Got the picture? Image, image schemata, imaginative reason
Authors: Lapaire Jean-Rémi
Published: December 2010

La sémantique cognitive pratiquée par George Lakoff, Mark Johnson, Mark Turner, Eve Sweetser et Gilles Fauconnier propose un certain nombre d’outils pour rendre compte des mécanismes psychiques par lesquels le sens se construit. À partir du support visuel fourni par un dessin humoristique (« Nearer to the altar »), nous nous attachons à définir les notions de transfert conceptuel et d’espace mental. Une attention particulière est accordée au phénomène de blending (imbrication/superposition de deux espaces distincts) ainsi qu’à la structure imaginaire et narrative du savoir humain.
Life cycles, chaos and zoom lenses: a comparative analysis of some conceptual metaphors in the discourse of entrepreneurship theory
Authors: Arleo Andy
Published: December 2010

Cet article analyse quelques métaphores conceptuelles dans un corpus de douze articles majeurs dans le domaine de l’entrepreneuriat, publiés entre 1986 et 1995. L’auteur présente d’abord le cadre théorique de ce travail, la théorie cognitive de la métaphore élaborée par Lakoff, Johnson et leurs collaborateurs (Lakoff & Johnson 1980, 1999; Johnson 1987, Lakoff & Turner 1989; Sweetser 1990) et souligne ses avantages par rapport à des approches plus traditionnelles. Il traite ensuite des questions méthodologiques. La troisième partie est consacrée à l’analyse de trois types de métaphores dans le discours sur l’entrepreneuriat: une métaphore naturelle, qui provient de la biologie (l’entreprise en tant qu’organisme or espèce), une série de métaphores abstraites tirées de la théorie des catastrophes, de la théorie du chaos et de la physique quantique, et enfin une métaphore technologique (l’objectif zoom de l’entrepreneur).
Guillain-Barré Syndrome after Thrombolysis with Streptokinase
Authors: Okuyan Ertugrul , Cakar Mehmet Akif , Dinckal Mustafa H.
Published: December 2010

Guillain-Barre syndrome (GBS) is an eponym for a heterogeneous group of immune-mediated peripheral neuropathies. We describe a case of GBS in a patient who recieved intravenous streptokinase therapy for acute anterior myocardial infarction. Clinical symptoms are thought to result from streptokinase-antibody complex mediated damage to the local blood-nerve barrier. Patient was treated with 5-days course of intravenous gammaglobulin and his outcome was good.
General Properties for Volterra-Type Operators in the Unit Disk
Authors: Ibrahim Rabha W. , Darus Maslina
Published: December 2010

The object of this paper is to study general properties such as boundedness, compactness, and geometric properties for two integral operators of Volterra-Type in the unit disk.
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication
Authors: Vlangos Christopher N. , Siuniak Amanda , Ackley Todd , van Bokhoven Hans , Veltman Joris , Iyer Ram , Park John M. , Keppler‐Noreuil Kim , Keegan Catherine E.
Published: December 2010

Omphalocele–exstrophy of the bladder‐imperforate anus‐spinal defects (OEIS) complex, or cloacal exstrophy (EC), is a rare constellation of malformations in humans involving the urogenital, gastrointestinal, and skeletal systems, and less commonly the central nervous system. Although OEIS complex is well‐recognized in the clinical setting, there remains a significant lack of understanding of this condition at both the developmental and the genetic level. While most cases are sporadic, familial cases have been reported, suggesting that one or more specific genes may play a significant role in this condition. Several developmental mechanisms have been proposed to explain the etiology of OEIS complex, and it is generally considered to be a defect early in caudal mesoderm development and ventral body wall closure. The goal of this study was to identify genetic aberrations in 13 patients with OEIS/EC using a combination of candidate gene analysis and microarray studies. Analysis of 14 candidate genes in combination with either high resolution SNP or oligonucleotide microarray did not reveal any disease‐causing mutations, although novel variants were identified in five patients. To our knowledge, this is the most comprehensive genetic analysis of patients with OEIS complex to date. We conclude that OEIS is a complex disorder from an etiological perspective, likely involving a combination of genetic and environmental predispositions. Based on our data, OEIS complex is unlikely to be caused by a recurrent chromosomal aberration. © 2010 Wiley‐Liss, Inc.
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder
Authors: Williams P.G. , Wetherbee J.J. , Rosenfeld J.A. , Hersh J.H.
Published: December 2010

Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a child with a de novo mosaic 20p11 deletion who presents with panhypopituitarism; hypoplastic pituitary gland and ectopic posterior pituitary gland on MRI of the brain; cleft lip and palate; kyphosis with anterior beaking of L1 and L2 vertebral bodies; pulmonic stenosis; dysmorphic facial features including flat nasal bridge, hypoplastic premaxilla, hypotelorism, preauricular pit, and cupped ears; seizure disorder; variable muscle tone; and global developmental delay. Array comparative genomic hybridization revealed this deletion to be approximately 5.4 Mb in size, containing 35 genes. Previously, an infant with 20p11.22 deletion who had panhypopituitarism, craniofacial, and genital abnormalities was reported, but the precise parameters of that deletion are unavailable. Several other reported cases of 20p11 deletions also have phenotypic overlap with our case. The similarities in clinical features of these patients suggest that the genes at 20p11 have a critical role in development of midline brain structures. © 2010 Wiley‐Liss, Inc.
Pregnancy as a proclamation of faith: Ultra‐Orthodox Jewish women navigating the uncertainty of pregnancy and prenatal diagnosis
Authors: Teman Elly , Ivry Tsipy , Bernhardt Barbara A.
Published: December 2010

Research has suggested that religion and spirituality may inform individuals' interpretation of and responses to uncertainty during pregnancy including the possibility of genetic disorders. In this study, 25 qualitative interviews were undertaken with ultra‐Orthodox [Haredi] Jewish women about their experiences with uncertainties related to pregnancy, prenatal care, and prenatal diagnosis. We found that women draw upon a particular set of faith‐based concepts to cope with the uncertainties of pregnancy and to make decisions regarding prenatal testing. The women draw on the religious concepts of faith and certainty, which are based on trusting that God will not test them beyond what they can withstand. When prenatal screening indicates a possible fetal anomaly or when a disabled child is born, these women interpret the situation as a God‐sent ordeal in which they are called upon to prove their trust and certainty in God's plan and to resist the uncertainties generated by the probability‐based technologies. This research has implications for genetic service providers when discussing prenatal testing and fetal anomalies with Haredi women. © 2010 Wiley‐Liss, Inc.
Angelman syndrome: Mutations influence features in early childhood
Authors: Tan Wen‐Hann , Bacino Carlos A. , Skinner Steven A. , Anselm Irina , Barbieri‐Welge Rene , Bauer‐Carlin Astrid , Beaudet Arthur L. , Bichell Terry Jo , Gentile Jennifer K. , Glaze Daniel G. , Horowitz Lucia T. , Kothare Sanjeev V. , Lee Hye‐Seung , Nespeca Mark P. , Peters Sarika U. , Sahoo Trilochan , Sarco Dean , Waisbren Susan E. , Bird Lynne M.
Published: December 2010

Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the “classic” features of AS are well described, few large‐scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008. Seventy‐four percent of participants had deletions, 14% had either uniparental disomy (UPD) or imprinting defects, and 12% had UBE3A mutations. Participants with UPD/imprinting defects were heavier (P = 0.0002), while those with deletions were lighter, than the general population (P < 0.0001). Twenty out of 92 participants were underweight, all of whom had deletions or UBE3A mutations. Eight out of 92 participants (6/13 (46%) with UPD/imprinting defects and 2/11 (18%) with UBE3A mutations) were obese. Seventy‐four out of 92 participants (80%) had absolute or relative microcephaly. No participant was macrocephalic. The most common behavioral findings were mouthing behavior (95%), short attention span (92%), ataxic or broad‐based gait (88%), history of sleep difficulties (80%), and fascination with water (75%). Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalograms (EEGs) were abnormal. We conclude that the most characteristic feature of AS is the neurobehavioral phenotype, but specific EEG findings are highly sensitive for AS. Obesity is common among those with UPD/imprinting defects. © 2010 Wiley‐Liss, Inc.
A novel homozygous COL11A2 deletion causes a C‐terminal protein truncation with incomplete mRNA decay in a Turkish patient
Authors: Kayserili Hülya , Wollnik Bernd , Güven Gamze , Emiroğlu Melike Ulubil , Başerer Nermin , Uyguner Z. Oya
Published: December 2010

Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non‐syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non‐ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish cousins with OSMED carrying a novel homozygous truncating mutation in exon 38 of COL11A2 gene, c.2763delT, identified on cDNA and confirmed at gDNA. This mutation is located on triple helix repeat domain of the collagen alpha‐2(XI) chain, where the majority of the previously identified mutations are located. Real‐time RT‐PCR experiment provided that mutated transcript does not decay completely. Although our analysis displays the partial survival of the mutant transcript from blood tissue, not from cartilage, we propose that this mechanism may play an important role on the variable expressivity of the heterozygous COL11A2 gene mutations. © 2010 Wiley‐Liss, Inc.
Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome
Authors: Milunsky Jeff M. , Maher Tom M. , Zhao Geping , Wang Zhenyuan , Mulliken John B. , Chitayat David , Clemens Michele , Stalker Heather J. , Bauer Mislen , Burch Michele , Chénier Sébastien , Cunningham Michael L. , Drack Arlene V. , Janssens Sandra , Karlea Audrey , Klatt Regan , Kini Usha , Klein Ophir , Lachmeijer Augusta M. , Megarbane Andre , Mendelsohn Nancy J. , Meschino Wendy S. , Mortier Geert R. , Parkash Sandhya , Ray C. Renai , Roberts Angharad , Roberts Amy , Reardon Willie , Schnur Rhonda E. , Smith Rosemarie , Splitt Miranda , Tezcan Kamer , Whiteford Margo L. , Wong Derek A. , Zori Roberto , Lin Angela E.
Published: December 2010

Branchio‐oculo‐facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutations involving TFAP2A result in BOFS, we studied a total of 30 families (41 affected individuals); 26/30 (87%) fulfilled our cardinal diagnostic criteria. The original family with the 3.2 Mb deletion including the TFAP2A gene remains the only BOFS family without the typical CL/P and the only family with a deletion. We have identified a hotspot region in the highly conserved exons 4 and 5 of TFAP2A that harbors missense mutations in 27/30 (90%) families. Several of these mutations are recurrent. Mosaicism was detected in one family. To date, genetic heterogeneity has not been observed. Although the cardinal criteria for BOFS have been based on the presence of each of the core defects, an affected family member or thymic remnant, we documented TFAP2A mutations in three (10%) probands in our series without a classic cervical cutaneous defect or ectopic thymus. Temporal bone anomalies were identified in 3/5 patients investigated. The occurrence of CL/P, premature graying, coloboma, heterochromia irides, and ectopic thymus, are evidence for BOFS as a neurocristopathy. Intrafamilial clinical variability can be marked. Although there does not appear to be mutation‐specific genotype–phenotype correlations at this time, more patients need to be studied. Clinical testing for TFAP2A mutations is now available and will assist geneticists in confirming the typical cases or excluding the diagnosis in atypical cases. © 2010 Wiley‐Liss, Inc.
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
Authors: Cossée Mireille , Faivre Laurence , Philippe Christophe , Hichri Heifa , de Saint‐Martin Anne , Laugel Vincent , Bahi‐Buisson Nadia , Lemaitre Jean‐François , Leheup Bruno , Delobel Bruno , Demeer Bénédicte , Poirier Karine , Biancalana Valérie , Pinoit Jean‐Michel , Julia Sophie , Chelly Jamel , Devys Didier , Mandel Jean‐Louis
Published: December 2010

Mutations in the ARX gene cause both nonsyndromic and several forms of syndromic mental retardation (MR). Two polyalanine (polyA) expansions of ARX are recurrent mutations. The most common one, the c.428_451dup, is associated with a wide spectrum of phenotypes, ranging from the most severe West syndrome to Partington syndrome (MR and hand dystonia), and even nonsyndromic X‐linked mental retardation (NS‐XLMR). Studies of patients not selected for specific clinical signs showed that the c.428_451dup is relatively frequent in families harboring X‐linked MR (7.5%), but less common in familial cases compatible with X‐linked NR (1%), and very rare in sporadic cases (0.1%). The c.333_334ins(GCG)7 expansion is less frequent and mainly associated with West syndrome. We screened for both ARX polyA expansions in 98 unrelated patients selected for the presence of NR associated with different types of epilepsy and/or with hand dystonia. We also studied two families with an initial diagnosis of NS‐XLMR, one of which was identified as showing linkage to the ARX locus. The c.428_451dup was identified in three patients and the c.333_334ins(GCG)7 in one; all of the patients were from families with two affected brothers. We also found the c.428_451dup in the family linked to ARX, and clinical re‐evaluation showed subtle, previously undetected signs. Our study illustrates that ARX polyA expansions are primarily associated with syndromic MR and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of MR with epilepsy and/or dystonia. © 2010 Wiley‐Liss, Inc.
Monosomy 21q22.11‐q22.13 presenting as a Fanconi anemia phenotype
Authors: Byrd Robert S. , Zwerdling Theodore , Moghaddam Billur , Pinter Joseph D. , Steinfeld Mary Beth
Published: December 2010

We report on a 5‐year‐old Caucasian female with multiple anomalies whose deletion, 46,XX,del(21)(q22.11q22.13), was determined by a 105K oligonucleotide‐based microarray. This case is a unique deletion that mimicked Fanconi anemia (combination of thrombocytopenia, thumb anomalies, congenital heart defects, borderline small head circumference, strabismus, hydronephrosis, and significant developmental delay) but testing for Fanconi anemia was negative, as was testing for a wide array of genetic/metabolic conditions. Microarray testing done at 5 months failed to demonstrate the interstitial deletion that was found on a newer generation microarray test performed after 3 years of age. When compared to other reported cases of partial monosomy 21q, the unique features of this case include: (1) cleft palate, although high palate is reported in other cases; (2) neonatal thrombocytopenia requiring platelet transfusion; (3) a platelet function defect, reported previously as platelet storage pool defect as part of a familial platelet disorder; and (4) an immune function defect. Similar to other reported patients with terminal 21q deletion, this child had significant developmental delay, and feeding and growth problems. This case also highlights the ability for newer technology microarrays to identify small interstitial deletions previously missed by an earlier version microarray. The advances in the microarray technologies are allowing us to better define new phenotypes and leading to the identification of a diagnosis for many patients who have been previously undiagnosed. Review of the genes involved in these novel deletions allows the caring physician to design surveillance strategies that are custom‐designed for these unique patients. © 2010 Wiley‐Liss, Inc.
White and gray matter abnormalities in idiopathic rapid eye movement sleep behavior disorder: A diffusion‐tensor imaging and voxel‐based morphometry study
Authors: Scherfler Christoph , Frauscher Birgit , Schocke Michael , Iranzo Alex , Gschliesser Viola , Seppi Klaus , Santamaria Joan , Tolosa Eduardo , Högl Birgit , Poewe Werner ,   for the SINBAR (Sleep Innsbruck Barcelona) Group
Published: December 2010

Objective

We applied diffusion‐tensor imaging (DTI) including measurements of mean diffusivity (MD), a parameter of brain tissue integrity, fractional anisotropy (FA), a parameter of neuronal fiber integrity, as well as voxel‐based morphometry (VBM), a measure of gray and white matter volume, to detect brain tissue changes in patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD).

Methods

Magnetic resonance imaging (MRI) was performed in 26 patients with iRBD (mean disease duration, 9.2 ± 6.4 years) and 14 age‐matched healthy control subjects. Statistical parametric mapping (SPM) was applied to objectively identify focal changes of MRI parameters throughout the entire brain volume.

Results

SPM localized significant decreases of FA in the tegmentum of the midbrain and rostral pons and increases of MD within the pontine reticular formation overlapping with a cluster of decreased FA in the midbrain (p < 0.001). VBM revealed increases of gray matter densities in both hippocampi of iRBD patients (p < 0.001).

Interpretation

The observed changes in the pontomesencephalic brainstem localized 2 areas harboring key neuronal circuits believed to be involved in the regulation of REM sleep and overlap with areas of structural brainstem damage causing symptomatic RBD in humans. Bilateral increases in gray matter density of the hippocampus suggest functional neuronal reorganization in this brain area in iRBD. This study indicates that DTI detects distinct structural brainstem tissue abnormalities in iRBD in the regions where REM is modulated. Further studies should explore the relationship between MRI pathology and the risk of patients with iRBD of developing alpha‐synuclein–related neurodegenerative diseases like Parkinson disease. Ann Neurol 2011.
Surface Chemistry of Metal–Organic Frameworks at the Liquid–Solid Interface
Authors: Zacher Denise , Schmid Rochus , Wöll Christof , Fischer Roland A.
Published: December 2010

Metal–organic frameworks (MOFs) are a fascinating class of novel inorganic–organic hybrid materials. They are essentially based on classic coordination chemistry and hold much promise for unique applications ranging from gas storage and separation to chemical sensing, catalysis, and drug release. The evolution of the full innovative potential of MOFs, in particular for nanotechnology and device integration, however requires a fundamental understanding of the formation process of MOFs. Also necessary is the ability to control the growth of thin MOF films and the positioning of size‐ and shape‐selected crystals as well as MOF heterostructures on a given surface in a well‐defined and oriented fashion. MOFs are solid‐state materials typically formed by solvothermal reactions and their crystallization from the liquid phase involves the surface chemistry of their building blocks. This Review brings together various key aspects of the surface chemistry of MOFs.
Nanogel‐based scaffold delivery of prostaglandin E2 receptor–specific agonist in combination with a low dose of growth factor heals critical‐size bone defects in mice
Authors: Kamolratanakul Paksinee , Hayata Tadayoshi , Ezura Yoichi , Kawamata Aya , Hayashi Chikako , Yamamoto Yuka , Hemmi Hiroaki , Nagao Masashi , Hanyu Ryo , Notomi Takuya , Nakamoto Tetsuya , Amagasa Teruo , Akiyoshi Kazunari , Noda Masaki
Published: December 2010

Objective

Regeneration of bone requires the combination of appropriate drugs and an appropriate delivery system to control cell behavior. However, the delivery of multiple drugs to heal bone is complicated by the availability of carriers. The aim of this study was to explore a new system for delivery of a selective EP4 receptor agonist (EP4A) in combination with low‐dose bone morphogenetic protein 2 (BMP‐2).

Methods

Combined delivery of EP4A and BMP‐2 was carried out with a nanogel‐based scaffold in the shape of a disc, to repair critical‐size circle‐shaped bone defects in calvariae that otherwise did not heal spontaneously.

Results

Combination treatment with EP4A and low‐dose BMP‐2 in nanogel efficiently activated bone cells to regenerate calvarial bone by forming both outer and inner cortical plates as well as bone marrow tissue to regenerate a structure similar to that of intact calvaria. EP4A enhanced low‐dose BMP‐2–induced cell differentiation and activation of transcription events in osteoblasts.

Conclusion

These data indicate that combined delivery of EP4A and low‐dose BMP‐2 via nanogel‐based hydrogel provides a new system for bone repair.
Toll‐like receptor 2 induces Th17 myeloperoxidase autoimmunity while Toll‐like receptor 9 drives Th1 autoimmunity in murine vasculitis
Authors: Summers Shaun A. , Steinmetz Oliver M. , Gan Poh‐Yi , Ooi Joshua D. , Odobasic Dragana , Kitching A. Richard , Holdsworth Stephen R.
Published: December 2010

Objective

Autoantibodies constitute the hallmark of antineutrophil cytoplasmic antibody–associated vasculitis (AAV); however, CD4+ T cells play an essential role in the development of autoimmunity. Infection is associated with vasculitis, with Toll‐like receptors (TLRs) a potential link between infection and autoimmunity. This study was undertaken to investigate the role of TLR ligation on cellular and humoral autoimmunity and glomerular injury in experimental myeloperoxidase (MPO)–induced AAV.

Methods

We analyzed autoimmune responses in wild‐type mice immunized with MPO alone or coimmunized with MPO and a TLR‐2 or TLR‐9 ligand. The major vascular injury found in human disease, glomerulonephritis with focal necrosis, was triggered by administering a subnephritogenic dose of nephrotoxic serum.

Results

MPO alone induced low‐titer antineutrophil cytoplasmic antibodies (ANCAs) without delayed‐type hypersensitivity or CD4 cytokine responses. However, when MPO was given with either TLR ligand, cellular and humoral autoimmunity was enhanced, but with distinctly different CD4 subsets and IgG ANCA isotypes. TLR‐2 ligand induced Th17 autoimmunity, with retinoic acid receptor–related orphan nuclear receptor γt–dependent interleukin‐17A (IL‐17A) production. TLR‐9 ligand promoted Th1 autoimmunity, with enhanced production of interferon‐γ (IFNγ) and Th1‐associated IgG subclasses. Glomerular vasculitis developed only after the administration of nephrotoxic serum in mice immunized with either TLR ligand and MPO. Glomerulonephritis directed by MPO and TLR‐2 ligation was attenuated when IL‐17A was neutralized, while glomerulonephritis induced by MPO and TLR‐9 ligation was attenuated when IFNγ was neutralized.

Conclusion

Our findings indicate a pathogenic role of TLRs in initiating autoimmune AAV. TLR‐2 induces Th17 CD4 cells while TLR‐9 can also direct vasculitis, by directing Th1 autoimmunity.
Heparin exerts a dual effect on murine lupus nephritis by enhancing enzymatic chromatin degradation and preventing chromatin binding in glomerular membranes
Authors: Hedberg Annica , Fismen Silje , Fenton Kristin A. , Fenton Chris , ØSterud Bjarne , Mortensen Elin S. , Rekvig Ole Petter
Published: December 2010

Objective

Association of nucleosome–IgG immune complexes with glomerular basement membranes (GBMs) is an important event in the development of lupus nephritis. Preventing this binding and/or increasing nuclease sensitivity of nucleosomes may be viable strategies for the prevention of the disease. Theoretically, heparin may alter nucleosomal structure and increase sensitivity to proteinases and nucleases, and may also inhibit binding of nucleosomes and nucleosome–IgG complexes to basement membrane structures. The aim of this study was to investigate whether and eventually how heparin prevents murine lupus nephritis.

Methods

Surface plasmon resonance was used to analyze if heparin inhibits binding of nucleosomes to laminin and collagen. The effect of heparin on nuclease‐ and proteinase‐mediated degradation of nucleosomes was analyzed by sodium dodecyl sulfate–polyacrylamide gel electrophoresis and agarose gel electrophoresis. In vitro results were compared with analyses in vivo in heparin‐treated (NZB × NZW)F1 mice. Anti–double‐stranded DNA antibody production, deposition of nucleosome–IgG complexes in GBMs, and development of proteinuria were monitored, and circulating chromatin fragments were quantified using quantitative polymerase chain reaction.

Results

In vitro studies demonstrated that heparin increased enzymatic degradation of nucleosomes and almost completely inhibited binding of nucleosomes to laminin and collagen. (NZB × NZW)F1 mice treated with heparin demonstrated delayed or no antibody production and higher variation of circulating chromatin levels compared with untreated control mice. This effect was accompanied by highly reduced nucleosome–IgG complexes in GBMs and delayed development of nephritis.

Conclusion

Increasing the degradation of nucleosomes, reducing their immunogenicity, and preventing binding of nucleosome–IgG complexes in glomeruli together provide an alternative basis for the treatment of lupus nephritis.
Score tests for inverse Gaussian mixtures
Authors: Desmond A. F. , Yang Z. L.
Published: December 2010

The mixed inverse Gaussian given by Whitmore (biScand. J. Statist.,13, 1986, 211–220) provides a convenient way for testing the goodness‐of‐fit of a pure inverse Gaussian distribution. The test is a one‐sided score test with the null hypothesis being the pure inverse Gaussian (i.e. the mixing parameter is zero) and the alternative a mixture. We devise a simple score test and study its finite sample properties. Monte Carlo results show that it compares favourably with the smooth test of Ducharme (Test,10, 2001, 271‐290).

In practical applications, when the pure inverse Gaussian distribution is rejected, one is interested in making inference about the general values of the mixing parameter. However, as it is well known that the inverse Gaussian mixture is a defective distribution; hence, the standard likelihood inference cannot be applied. We propose several alternatives and provide score tests for the mixing parameter. Finite sample properties of these tests are examined by Monte Carlo simulation. Copyright © 2010 John Wiley & Sons, Ltd.
Persönliches: Bautechnik 1/2011
Authors: Schillmann Ronald
Published: December 2010

Ehrung für Gerhard Sedlacek

Gundolf Rupprich gestorben †

Holzbranche ehrt Heinz Brüninghoff
Nutzer‐ und klimaangepasstes Bauen — Leitbild und Chance für die globale Verbreitung von nachhaltigen Gebäudelösungen
Authors: Wallbaum Holger , Ostermeyer York , Goto Yutaka
Published: December 2010

Der Artikel gibt einen Überblick über Hintergründe und Ausblicke einer nachhaltigen Entwicklung als Leitbild im Bausektor. Im Fokus steht hierbei die Notwendigkeit der Anpassung bei der Übertragung bereits generierter Erfahrungswerte in andere Klimazonen und Kulturen. Gerade in diesem Sektor liegt enormes Potential in Bezug auf eine Lösung der globalen Probleme wie Klimaerwärmung und die Endlichkeit vieler Ressourcen. Erfahrungen mit analysierten Projekten zeigen jedoch, dass häufig Technologien nicht auf regionale Bedingungen angepasst werden, um schadensfreie und gesunde Gebäude zu erstellen.

Am Beispiel eines Projektes der Eidgenössischen Mess‐ und Prüfanstalt (EMPA) und der Eidgenössischen Technischen Hochschule Zürich (ETHZ), in dem eine klimaangepasste Gebäudehülle für zentraljapanische Wohngebäude entwickelt wurde, wird aufgezeigt, warum gerade im Bereich der Bauphysik die Anpassung von Konzepten zwingend ist, um Bauschäden zu vermeiden und nachhaltige Gebäude zu ermöglichen.

Daneben soll durch ein Aufzeigen der Wechselwirkungen und Abhängigkeiten der entwickelten Hülle mit verschiedenen Rahmenbedingungen, wie beispielsweise der regionalen Ressourcenverfügbarkeit, gezeigt werden, welche Herausforderungen ein solches Vorhaben mit sich bringt und welche Aspekte beachtet werden sollen, um Probleme möglichst vollumfänglich und regionalspezifisch zu lösen.

User‐ and Climate‐tailored Design — a vision and chance for global acceptance of sustainable building solutions. The paper gives an overview on background and outlook on sustainable development as a trend and vision in the building sector. Focus is on the necessity to adapt existing experience values and concepts in when transferring them to other climate zones and cultures than they originate from. This approach shows a great potential in regards to a solution of problems like global warming and limited resources. Experiences with analyzed projects show however, that, despite the goal to create working and healthy homes, technologies and concepts often are not tailored to local conditions.

Using the example of a cooperation project of the Swiss Federal Institute of Technology Zürich (ETH Zürich) and the Swiss Federal Laboratories for Materials Science and Technology (EMPA) in which a climate adapted building envelope was developed the paper shows what modifications have to be made. This is especially relevant in the field of building physics in order to increase efficiency and avoid damages to the building and inhabitants and create sustainable homes.

Besides this the interchange of the developed envelope, associated production methods and other relevant frame conditions, like local resource availability, is used to demonstrate what barriers and potential synergies can emerge in the course of such a project.
Ermittlung des Aufbaus und der Stoffkennwerte von erdberührten Außenbauteilen mit Hilfe von In‐situ‐Messungen und FEM‐Berechnungen
Authors: Beißner Eckhard , Eilering Siegfried
Published: December 2010

Die international und national formulierten Ziele zum Klimaschutz können nur unter Einbeziehung des energieeffizienten Bauens und Sanierens des Gebäudebestandes erreicht werden. Kenntnisse über den konstruktiven Aufbau und die Stoffkennwerte der wärmeübertragenden Außenbauteile sind Voraussetzungen für die energetische Bilanzierung von Gebäuden. Die dazu erforderlichen Angaben können, insbesondere bei älteren Bauwerken, den Bauunterlagen häufig nicht mehr entnommen werden, da sie nicht mehr auffindbar oder unvollständig sind. Am Beispiel einer Fußboden‐Sohlplattenkonstruktion wird gezeigt, dass die thermophysikalischen Eigenschaften mit In‐situ‐Messverfahren in Verbindung mit dem Einsatz von Referenzdämmschichten und einem Berechnungsansatz, der aus der Beziehung zur Bestimmung der Wärmestromdichte abgeleitet wurde, ermittelt werden können. Durch Simulationsrechnungen nach der FE‐Methode können die in Abhängigkeit von der Geometrie der Referenzdämmfläche auftretenden Fehler bei der Ermittlung der thermophysikalischen Kenngrößen erheblich verringert werden.

Determination of the structure and material characteristics of outside components with soil contact utilizing in‐situ‐measurements and FEM calculations. The nationwide and international formulated aims to the climate protection can be achieved by combining of the energy‐efficient construction and rehabilitation of the existing buildings. Knowledge about the construction and the material identity values of the warmth‐transferring outside components are a condition for the energetic balance of buildings. The essential informations to this can´t frequently be taken from the construction documents particulary for older buildings since they are no longer traceable or incomplete. At the example of a floor tile construction it is shown that the thermophysical qualities can be determined by analytic relationship of heat flow density calculation with the help of in‐situ‐measuring procedure and reference insulation layer. By simulation calculation with the finite element method the deviations of determined thermophysical qualities dependency of the geometry of reference insulation layer can be considerably reduced.
Hepatic fibrosis does not affect the pharmacokinetics of 5‐fluorouracil in rats
Authors: Nagata Masashi , Hidaka Yumi , Hatakeyama Kinta , Kawano Yohei , Iwakiri Tomomi , Okumura Manabu , Arimori Kazuhiko
Published: December 2010

In the case of cancer chemotherapy for hepatocellular carcinoma, 5‐fluorouracil (5‐FU) is used widely, and has typically been given by intrahepatic arterial (i.a.) infusion to increase treatment efficacy and to reduce systemic toxicity. 5‐Fluorouracil is eliminated primarily by the liver, and so its use in patients with hepatic disease can be difficult. This study investigated the effect of hepatic fibrosis on the pharmacokinetics of 5‐FU in rats. Experimental hepatic fibrosis was induced by carbon tetrachloride treatment. 5‐Fluorouracil was infused for 15 min into the hepatic artery or the saphenous vein of the rats at a dose of 1.25 mg/kg. There were no significant differences in the plasma concentration and AUC of 5‐FU between hepatic disease rats and their controls after both intravenous and intraarterial injection. This result is probably attributed to the fact that there were no significant differences in hepatic blood flow and dihydropyrimidine dehydrogenase (DPD; an initial and rate‐limiting enzyme in 5‐FU catabolism) activity between hepatic disease rats and their controls, because the total clearance of 5‐FU after intravenous and intraarterial administration is mainly limited by hepatic blood flow and DPD activity, respectively. In conclusion, the pharmacokinetics of 5‐FU is not affected by hepatic fibrosis, unlike that of many hepatically metabolized drugs. Copyright © 2010 John Wiley & Sons, Ltd.
How Uncertainty and Accountability can Derail Strategic ‘Save Life’ Decisions in Counter‐Terrorism Simulations: A Descriptive Model of Choice Deferral and Omission Bias
Authors: van den Heuvel Claudia , Alison Laurence , Crego Jonathan
Published: December 2010

The present study sought to describe police officers' decision processes in simulated counter‐terrorism events. Based on previous phase models of decision making and existing police policy in dealing with critical incidents of this nature, a descriptive SAFE‐T (Situation Assessment, Formulate a plan, Execute a plan and Team learning) model was applied to team decision processes. Proximity and Lag Sequential analyses tested the occurrence of the predicted decision phases set out in the model; these results indicated that the model did not fully capture the complexity of the process. Specifically, further qualitative analyses (and comparisons to a ‘Gold Standard’ set of subject matter expert decisions, conducted with the benefit of removing ambient and time pressure stressors) illustrated that a complex combination of ambient (uncertainty), cognitive (accountability pressures) and organizational (an existing blame culture and lack of policy) factors ‘derailed’ officers from making ‘save life’ decisions. Instead, albeit in a minority of cases, they either made errors of omission by failing to make any decision at all or inappropriate choice deferrals (by insisting another agency made the decision or that the decision could be made later). The potential benefits of making the SAFE‐T decision process and how derailment can occur explicit in police critical incident training events are discussed. Copyright © 2010 John Wiley & Sons, Ltd.