bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic basis of thoracic aortic aneurysms and aortic dissections
Authors: Pannu Hariyadarshi , Tran‐Fadulu Van , Milewicz Dianna M. 
Published: November 2005

AbstractAscending thoracic aortic aneurysms leading to type A dissections (TAAD) can occur in association with a genetic syndrome, such as Marfan syndrome (MFS), or as an autosomal dominant disorder in the absence of syndromic features, termed familial TAAD. Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified three TAAD loci at 5q13‐14 (TAAD1), 11q23 (FAA1), and 3p24‐25 (TAAD2). The underlying genetic heterogeneity of TAAD is reflected in the phenotypic variation associated with familial TAAD with respect to age of onset, progression, penetrance, and association with additional cardiac and vascular features. Recently, mutations in the TGFBR2 gene have been identified as the cause of disease linked to the TAAD2 locus, supporting the hypothesis that dysregulation of TGFβ signaling is a mechanism leading to aneurysms and dissections. The recent identification of the TGFβ pathway as a key target in the molecular pathogenesis of TAAD has opened new avenues for future genetic and therapeutic research. © 2005 Wiley‐Liss, Inc.
Molecular genetics in classic Ehlers–Danlos syndrome
Authors: Malfait Fransiska , de Paepe Anne 
Published: November 2005

AbstractClassic Ehlers–Danlos syndrome is a heritable disorder of connective tissue that is characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. Mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2‐chain of type V collagen respectively, are identified in approximately 50% of patients with a clinical diagnosis of classic EDS. In approximately one third of patients, the disease is caused by a mutation leading to a non‐functional COL5A1 allele, and resulting in haplo‐insufficiency of type V collagen. In a smaller proportion of patients, a structural mutation in COL5A1 or COL5A2, resulting in the production of a functionally defective type V collagen protein, is responsible for the phenotype. Inter‐ and intrafamilial phenotypic variability is observed, but no genotype–phenotype correlations can be made so far. The relatively low mutation detection rate in the COL5A1/A2 genes suggests genetic heterogeneity. Indeed rarely mutations in type I collagen have been identified in patients with classic EDS. Mutations in the gene for tenascin‐X have been implicated in an autosomal recessive condition phenotypically overlapping with classic EDS. Several other candidate genes, such as decorin, have emerged from the study of transgenic mouse models with clinical and ultrastructural features reminiscent of classic EDS. However, to date, no human examples have been reported for these mouse models. © 2005 Wiley‐Liss, Inc.
Tenascin‐X, collagen, elastin, and the Ehlers–Danlos syndrome
Authors: Bristow James , Carey William , Egging David , Schalkwijk Joost 
Published: November 2005

AbstractTenascin‐X is an extracellular matrix protein initially identified because the gene encoding it overlaps with the human CYP21B gene. Because studies of gene and protein function of other tenascins had been poorly predictive of essential functions in vivo, we used a genetic approach that critically relied on an understanding of the genomic locus to uncover an association between inactivating tenascin‐X mutations and novel recessive and dominant forms of Ehlers–Danlos syndrome (EDS). Tenascin‐X provides the first example of a gene outside of the fibrillar collagens and their processing enzymes that causes EDS. Tenascin‐X null mice recapitulate the skin findings of the human disease, confirming a causative role for this gene in EDS. Further evaluation of these mice showed that tenascin‐X is an important regulator of collagen deposition in vivo, suggesting a novel mechanism of disease in this form of EDS. Further studies suggest that tenascin‐X may do this through both direct and indirect interactions with the collagen fibril. Recent studies show that TNX effects on matrix extend beyond the collagen to the elastogenic pathway and matrix remodeling enzymes. Tenascin‐X serves as a compelling example of how human “experiments of nature” can guide us to an understanding of genes whose function may not be evident from their sequence or in vitro studies of their encoded proteins. © 2005 Wiley‐Liss, Inc.
Osteogenesis imperfecta, current and future medical treatment
Authors: Rauch Frank , Glorieux Francis H. 
Published: November 2005

AbstractPhysiotherapy, rehabilitation, and orthopedic surgery are the mainstay of treatment in moderate to severe forms of osteogenesis imperfecta (OI). Nevertheless, medical treatment with bisphosphonates can bring significant additional improvements. Benefits include decreased pain, lower fracture incidence, and better mobility. Among the various bisphosphonates, intravenous pamidronate has been studied in most detail. It is unclear whether oral bisphosphonates are as effective as intravenous pamidronate. As the effect of bisphosphonates on the skeleton is largest during growth, it appears logical to start medical therapy of OI patients as early as possible. However, the optimal treatment regimen and the long‐term consequences of pamidronate treatment in children are currently unknown. Given these uncertainties, treatment with bisphosphonates during growth should be reserved for patients who have significant clinical problems, such as vertebral compression fractures or long bone deformities. Medical therapies other than bisphosphonates, such as growth hormone and parathyroid hormone, play a minor role at present. Gene‐based therapy currently remains in the early stages of preclinical research. © 2005 Wiley‐Liss, Inc.
Phase II jaw movements and masseter muscle activity during chewing in Papio anubis
Authors: Wall Christine E. , Vinyard Christopher J. , Johnson Kirk R. , Williams Susan H. , Hylander William L. 
Published: November 2005

AbstractIt was proposed that the power stroke in primates has two distinct periods of occlusal contact, each with a characteristic motion of the mandibular molars relative to the maxillary molars. The two movements are called phase I and phase II, and they occur sequentially in that order (Kay and Hiiemae [1974] Am J. Phys. Anthropol. 40:227–256, Kay and Hiiemae [1974] Prosimian Biology, Pittsburgh: University of Pittsburgh Press, p. 501–530). Phase I movement is said to be associated with shearing along a series of crests, producing planar phase I facets and crushing on surfaces on the basins of the molars. Phase I terminates in centric occlusion. Phase II movement is said to be associated with grinding along the same surfaces that were used for crushing at the termination of phase I. Hylander et al. ([1987] Am J. Phys. Anthropol. 72:287–312; see also Hiiemae [1984] Food Acquisition and Processing, London: Academic Press, p. 257–281; Hylander and Crompton [1980] Am J. Phys. Anthropol. 52:239–251, [1986] Arch. Oral. Biol. 31:841–848) analyzed data on macaques and suggested that phase II movement may not be nearly as significant for food breakdown as phase I movement simply because, based on the magnitude of mandibular bone strain patterns, adductor muscle and occlusal forces are likely negligible during movement out of centric occlusion. Our goal is to better understand the functional significance of phase II movement within the broader context of masticatory kinematics during the power stroke. We analyze vertical and transverse mandibular motion and relative activity of the masseter and temporalis muscles during phase I and II movements in Papio anubis. We test whether significant muscle activity and, by inference, occlusal force occurs during phase II movement. We find that during phase II movement, there is negligible force developed in the superficial and deep masseter and the anterior and posterior temporalis muscles. Furthermore, mandibular movements are small during phase II compared to phase I. These results suggest that grinding during phase II movement is of minimal importance for food breakdown, and that most food breakdown on phase II facets occurs primarily at the end of phase I movement (i.e., crushing during phase I movement). We note, however, that depending on the orientation of phase I facets, significant grinding also occurs along phase I facets during phase I. Am J Phys Anthropol, 2006. © 2005 Wiley‐Liss, Inc.
In vivo butyrylcholinesterase activity is not increased in Alzheimer's disease synapses
Authors: Kuhl David E. , Koeppe Robert A. , Snyder Scott E. , Minoshima Satoshi , Frey Kirk A. , Kilbourn Michael R. 
Published: November 2005

AbstractObjectiveWe tested the premise that cholinesterase inhibitor therapy should target butyrylcholinesterase (BuChE) in Alzheimer's disease (AD), not acetylcholinesterase (AChE) alone, because both enzymes hydrolyze acetylcholine, and BuChE is increased in AD cerebral cortex.MethodsTo examine this issue in vivo, we quantified human cerebral cortical BuChE activity using tracer kinetic estimates (k3) of 1‐[11C]methyl‐4‐piperidinyl n‐butyrate ([11C]BMP) hydrolysis determined by positron emission tomography. Validation of the putative positron emission tomography method included regional distribution, positive correlation with age, and attenuation by the nonselective cholinesterase inhibitor physostigmine, but no attenuation by the AChE‐selective inhibitor donepezil. Positron emission tomography scans in AD patients (n = 15) and control subjects (n = 12) measured both BuChE (using [11C]BMP) and AChE activity (using N‐[11C] methylpiperidin‐4‐yl propionate, an established method).ResultsAs expected, AChE activity in AD cerebral cortex was decreased to 75 ± 13% of normal (p = 0.00001). Contrary to prediction, accompanying BuChE activity also was decreased to 82 ± 14% of normal (p = 0.001).InterpretationFailure to observe increased [11C]BMP hydrolysis in vivo makes it less likely that incremental BuChE contributes importantly to acetylcholine hydrolysis in AD. The findings do not support the premise that inhibitor therapy should target BuChE so as to prevent increased levels of BuChE from hydrolyzing acetylcholine in AD cerebral cortex. Ann Neurol 2006
Ubiquilin 1 polymorphisms are not associated with late‐onset Alzheimer's disease
Authors: Smemo Scott , Nowotny Petra , Hinrichs Anthony L. , Kauwe John S. K. , Cherny Sara , Erickson Katherine , Myers Amanda J. , Kaleem Mona , Marlowe Lauren , Gibson Alison M. , Hollingworth Paul , O'Donovan Michael C. , Morris Chris M. , Holmans Peter , Lovestone Simon , Morris John C. , Thal Leon , Li Yonghong , Grupe Andrew , Hardy John , Owen Michael J. , Williams Julie , Goate Alison 
Published: November 2005

AbstractSeveral studies have reported evidence for linkage of late‐onset Alzheimer's disease (LOAD) to chromosome 9. Recently, an intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1) was reported to be associated with LOAD. We attempted to replicate this observation by genotyping this polymorphism, rs12344615 (also known as UBQ‐8i), in a large sample of 1,544 LOAD cases and 1,642 nondemented controls. We did not find any evidence that this single nucleotide polymorphism, or any of six others tested in UBQLN1, increases risk for LOAD. Ann Neurol 2005
Diagnostic criteria for multiple sclerosis: 2005 revisions to the “McDonald Criteria”
Authors: Polman Chris H. , Reingold Stephen C. , Edan Gilles , Filippi Massimo , Hartung Hans‐Peter , Kappos Ludwig , Lublin Fred D. , Metz Luanne M. , McFarland Henry F. , O'Connor Paul W. , Sandberg‐Wollheim Magnhild , Thompson Alan J. , Weinshenker Brian G. , Wolinsky Jerry S. 
Published: November 2005

AbstractNew diagnostic criteria for multiple sclerosis integrating magnetic resonance image assessment with clinical and other paraclinical methods were introduced in 2001. The “McDonald Criteria” have been extensively assessed and used since 2001. New evidence and consensus now strengthen the role of these criteria in the multiple sclerosis diagnostic workup to demonstrate dissemination of lesions in time, to clarify the use of spinal cord lesions, and to simplify diagnosis of primary progressive disease. The 2005 Revisions to the McDonald Diagnostic Criteria for MS should simplify and speed diagnosis, whereas maintaining adequate sensitivity and specificity. Ann Neurol 2005
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy
Authors: Pepe Guglielmina , Lucarini Laura , Zhang Rui‐Zhu , Pan Te‐Cheng , Giusti Betti , Quijano‐Roy Susana , Gartioux Corine , Bushby Katharine M. D. , Guicheney Pascale , Chu Mon‐Li 
Published: November 2005

AbstractWe have identified highly similar heterozygous COL6A1 genomic deletions, spanning from intron 8 to exon 13 or intron 13, in two patients with Ullrich congenital muscular dystrophy and the milder Bethlem myopathy. The 5′ breakpoints of both deletions are located within a minisatellite in intron 8. The mutations cause in‐frame deletions of 66 and 84 amino acids in the amino terminus of the triple‐helical domain, leading to intracellular accumulation of mutant polypeptides and reduced extracellular collagen VI microfibrils. Our studies identify a deletion‐prone region in COL6A1 and suggest that similar mutations can lead to congenital muscle disorders of different clinical severity. Ann Neurol 2005
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects
Authors: García‐Cazorla Angels , Rabier Daniel , Touati Guy , Chadefaux‐Vekemans Bernadette , Marsac Cécile , de Lonlay Pascale , Saudubray Jean‐Marie 
Published: November 2005

AbstractObjectivePyruvate carboxylase (PC) deficiency is a rare metabolic disease. Recently, therapeutic possibilities have been introduced. We aimed to report the largest series of the B type of PC deficiency, focusing on some neurological aspects that have not yet been documented.MethodsWe retrospectively studied nine patients with the severe neonatal form of PC deficiency diagnosed in our hospital. Detailed clinical features, brain imaging, biochemical characteristics, and global outcome are reported.ResultsAll patients had axial hypotonia and tachypnea during the first hours of life. The initial level of consciousness was preserved in most patients. Abnormal movements (high‐amplitude tremor and hypokinesia) and bizarre ocular behavior were the most common findings, whereas epilepsy was infrequent. Brain magnetic resonance imaging mostly disclosed cystic periventricular leukomalacia. Hypoglycemia, lactic acidosis, and hypercitrullinemia were invariably found. Hyperammoniemia, hypernatremia, and high proline and lysine were frequently detected. A rapid fatal outcome was observed in most patients.InterpretationClinical and biochemical characteristics of this deficiency are highly suggestive. Abnormal movements such as rigidity and hypokinesia (hypokinetic‐rigid syndrome) are an important hallmark and may orientate to PC deficiency when associated with severe lactic acidosis. Ann Neurol 2005
Lipoprotein‐associated phospholipase A2 is associated with risk of dementia
Authors: van Oijen Marieke , van der Meer Irene M. , Hofman Albert , Witteman Jacqueline C. M. , Koudstaal Peter J. , Breteler Monique M. B. 
Published: November 2005

AbstractObjectiveHigh levels of the inflammatory marker lipoprotein‐associated phospholipase A2 (Lp‐PLA2) have been proposed to be a predictor of coronary heart disease and stroke. Because both inflammation and vascular disease are associated with dementia, the objective of the present study was to examine the association between Lp‐PLA2 and the risk of dementia.MethodsWithin the Rotterdam Study, a population‐based prospective cohort study, we performed a case–cohort study. Of the 6,713 participants at risk for dementia, a random sample of 1,742 individuals was drawn. During follow‐up (mean, 5.7 years), 302 incident dementia cases were identified. Cox proportional hazard models were used to estimate the association of Lp‐PLA2 and dementia.ResultsWe found that subjects with higher levels of Lp‐PLA2 had an increased risk of dementia. Compared with the first quartile of Lp‐PLA2, age‐ and sex‐adjusted hazard ratios (HRs; 95% confidence interval [CI]) for dementia for the second, third, and fourth quartiles were 1.19 (0.78–1.81), 1.15 (0.74–1.79), and 1.56 (1.03–2.37), respectively (p value for trend 0.04). Additional adjustment for cardiovascular and inflammatory factors did not change the estimates.InterpretationThis is the first study to our knowledge that shows that Lp‐PLA2 is associated with the risk of dementia independent of cardiovascular and inflammatory factors and provides evidence for a potential role of Lp‐PLA2 in identifying subjects at risk for dementia. Ann Neurol 2006
1,4‐Wanderung von Rhodium und Palladium bei metallorganischen Katalysereaktionen
Authors: Ma Shengming , Gu Zhenhua 
Published: November 2005

AbstractMechanismen, die auf der 1,4‐Wanderung von Metallzentren beruhen, sind zur Erklärung einiger interessanter Übergangsmetall‐katalysierter Umsetzungen herangezogen worden. Trotz der nur wenigen belastbaren Belege lässt sich postulieren, dass die 1,4‐Metallwanderung über die reduktive Eliminierung von dreifach gebundenen Intermediaten bei Rhodium‐katalysierten Umsetzungen sowie von vierfach gebundenen Intermediaten bei Palladium‐katalysierten Prozessen abläuft. Diese hochvalenten metallorganischen Spezies sollten sich durch oxidative Addition an die C‐H‐ und C‐X‐Bindungen bilden. Dieser Kurzaufsatz fasst die Ergebnisse auf diesem Gebiet zusammen.
Weiche Nanotechnologie mit weichen Nanopartikeln
Authors: Nayak Satish , Lyon L. Andrew 
Published: November 2005

AbstractDie materialwissenschaftliche Forschung der letzten zehn Jahre hat sich in steigendem Maße der Untersuchung nanoskaliger Materialien zugewendet. Heute sind die Nanowissenschaften ein multidisziplinäres Fach, und ein grundlegendes Verständnis von optischen, elektrischen, magnetischen und mechanischen Eigenschaften von Nanostrukturen stellt die Entwicklung neuer funktionaler Materialien für eine Vielzahl von Anwendungen in Aussicht. Die Bandbreite ist extrem groß, und viele Arbeiten konzentrieren sich auf “harte” Materialien wie Fullerene, Kohlenstoff‐Nanoröhren, Metalle, Halbleiter und organische oder anorganische Dielektrika. Hinzugekommen sind zwischenzeitlich auch weiche Materialien, vor allem leitende oder emittierende Polymere für Elektronikanwendungen auf Kunststoffbasis (“Plastic Electronics”). Das Interesse an diesem etablierten Gebiet der Nanotechnologie hält weiterhin an, darüber hinaus werden aber auch zunehmend neue Klassen von weichen Nanomaterialien aus konventionellen Polymerstrukturen entwickelt. Insbesondere erscheinen nanostrukturierte Hydrogele als vielversprechende Materialien für vielfältige Anwendungen in der Biotechnologie, und der Bedarf an hochentwickelten Materialien wird in der Postgenom‐Ära weiter steigen. Dieser Aufsatz beschreibt einige der neuesten Fortschritte bei der Anwendung quellbarer Gelnetzwerke in der Nanotechnologie.
1,4‐Migration of Rhodium and Palladium in Catalytic Organometallic Reactions
Authors: Ma Shengming , Gu Zhenhua 
Published: November 2005

AbstractMechanisms based on the 1,4‐migration of metal centers have been proposed to explain some interesting transition‐metal‐catalyzed organic transformations. Despite the lack of solid evidence for the real nature of this process, the 1,4‐metal migration reaction is proposed to proceed by the reductive elimination of trivalent intermediates for the Rh‐involved reactions and of tetravalent intermediates for the Pd‐catalyzed processes. These high‐valent organometallic species would be formed by the oxidative addition to CH and CX bonds. This minireview summarizes the results in this area.
Reactions in Micellar Systems
Authors: Dwars Torsten , Paetzold Eckhard , Oehme Günther 
Published: November 2005

AbstractThe notion of “green chemistry” has encouraged even synthetic organic chemists to include water as a solvent. Incredible selectivities and activities can be achieved through the addition of amphiphiles with a defined structure. The morphology of supramolecular assemblies or associates formed by surfactants vary according to the temperature and concentration. As a rule, reactions are typically conducted using simple spherical aggregates, that is, micelles in the nanometer range. The strong polarity gradient present between the hydrophilic surface and the hydrophobic core of the micelle means that both nonpolar and polar reagents can be solubilized. This solubilization results in reactants becoming more concentrated within the micelle than in the surrounding water phase and leads to an acceleration of the reaction and causes selective effects. The kinetic treatment of reactions in micellar systems can be accomplished by considering them as microheterogeneous two‐phase systems.
Organometallic compounds with biologically active molecules: in vitro antibacterial and antifungal activity of some 1,1′‐(dicarbohydrazono) ferrocenes and their cobalt(II), copper(II), nickel(II) and zinc(II) complexes
Authors: Chohan Zahid H. , Supuran Claudiu T. 
Published: November 2005

AbstractSome 1,1′‐(dicarbohydrazono) ferrocenes have been prepared by condensing 1,1′‐diacetylferrocene with either 2‐furoic hydrazide, 2‐thiophenecarboxylic hydrazide or 2‐salicylic hydrazide. All the ligands synthesized were characterized by IR and NMR spectroscopy and elemental analysis data (carbon, hydrogen, nitrogen) and then were used as ligands to react with cobalt(II), copper(II), nickel(II) and zinc(II) metals as chlorides to afford metal complexes having the general formula M(L)Cl2. IR and electronic spectral data, magnetic moment and elemental analyses were used in the structural investigation of the metal complexes synthesized. The ligands synthesized and their metal(II) complexes have been screened for their in vitro antibacterial activity against Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis, Pseudomonas aeruginosa, Salmonella typhi, Shigella dysenteriae, Bacillus cereus, Corynebacterium diphtheriae, Staphylococcus aureus and Streptococcus pyogenes bacterial strains and for in vitro antifungal activity against Trichophyton longifusus, Candida albicans, Aspergillus flavus, Microsporum canis, Fusarium solani and Candida glabrata. The results of these studies show the metal complexes to be more antibacterial and antifungal than the uncomplexed ligands. However, the potency of all the ligands synthesized and their metal complexes was lower than that of the standard drugs. Copyright © 2005 John Wiley & Sons, Ltd.
New preparation of gold–silver complexes and optical fibre environmental sensors based on vapochromic [Au2Ag2(C6F5)4(phen)2]n
Authors: Luquin Asunción , Bariáin Candido , Vergara Elena , Cerrada Elena , Garrido Julian , Matias Ignacio R. , Laguna Mariano 
Published: November 2005

AbstractComplexes [Au2Ag2(C6F5)4L2]n, where L = 1,10‐phenanthroline (phen), 2,2′‐bipyridine (bipy) or tetrahydrothiophene (tht), have been synthesized by reaction of NBu4[Au(C6F5)2] with Ag(SO3CF3), and the addition of phen or bipy thereafter, or with [Ag(SO3CF3)(tht)]. The organometallic vapochromic material [Au2Ag2(C6F5)4(phen)2]nis isolated as a powder that is able to detect volatile organic compounds such as acetone even in an aqueous solution. The colour of this vapochromic material changes from bright yellow to white in the presence of different donor solvents such as acetone, methanol or ethanol. For the practical construction of an optical fibre sensor, a sol‐gel doped with the vapochromic complex was deposited onto one end of a monomode fibre connected to a coupler. The behaviour of the material was studied at different wavelengths and concentrations of acetone vapours and acetone–water solutions. Changes were detected up to 4 dB in the reflected optical power. Copyright © 2005 John Wiley & Sons, Ltd.