bluuebunny/crossref_metadata_2025_split huggingface dataset:
Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies
Authors: Lemire Edmond G. 
Published: November 2002

AbstractThis is a report on a father and his two children with an apparent autosomal dominant condition characterized by craniofacial anomalies, coarctation of the aorta, hypertrophic cardiomyopathy, and other structural heart abnormalities with normal psychomotor development. Some clinical features are reminiscent of Noonan syndrome. Alternatively, this family may have a previously undescribed genetic condition. The family history is suggestive of a new autosomal dominant mutation in the father. © 2002 Wiley‐Liss, Inc.
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome
Authors: McElhinney Doff B. , Straka Michele , Goldmuntz Elizabeth , Zackai Elaine H. 
Published: November 2002

AbstractCongenital heart disease is present in 40–50% of individuals with Down syndrome. Although cardiovascular evaluation is a standard component of the diagnostic work‐up in patients with Down syndrome, the value of routine neonatal echocardiography in this population is debated. We studied 114 neonates with Down syndrome who underwent both cardiac physical examination and echocardiography in the neonatal period to assess the accuracy of physical examination for identifying cardiovascular anomalies in this population. We retrospectively reviewed physical examination records and echocardiogram reports in 114 neonates with Down syndrome and trisomy 21. A patient was considered to have an abnormal cardiac physical examination if there was a pathologic cardiac murmur and/or cyanosis or an abnormal systemic arterial oxygen saturation. The median age at the time of physical examination was 2 days (1–30 days). Physical examination findings suggestive of cardiovascular pathology were noted in 77 patients (68%), with an abnormal cardiac murmur in 34 (30%), cyanosis and/or a pulse oximeter reading of ≤ 92% in 35 (31%), and both in 7 (6%). The echocardiogram was abnormal in 75 patients (66%), with an atrioventricular septal defect in 33, tetralogy of Fallot in 13, both of these anomalies in 2, a ventricular septal defect in 17, a patent ductus arteriosus beyond 7 days of age in 7, and other anomalies in 2. The sensitivity of physical examination findings for detection of cardiovascular anomalies was 80% and the specificity was 56%. The positive predictive value of an abnormal physical examination was 78% and the negative predictive value of a normal physical examination was 59%. Fifteen patients had a normal physical examination but an abnormal echocardiogram, nine of whom eventually required surgery. Physical examination alone is not sufficient to identify cardiovascular anomalies in neonates with Down syndrome. In the newborn with Down syndrome, the potential benefits of early diagnosis, in the context of physical examination findings, should be considered in determining whether an echocardiogram should be performed in the neonatal period. © 2002 Wiley‐Liss, Inc.
Does the current consent process minimize the risks of genetics research?
Authors: Wendler Dave , Prasad Kiran , Wilfond Benjamin 
Published: November 2002

AbstractCompletion of the human genome project is expected to lead to an increase in the number of individuals who participate in genetics research. The current informed consent process—developed prior to widespread genetics research—may not be sufficient to minimize the research risks that these individuals face. The current consent process focuses on informing individuals of the risks of research participation prior to their research enrollment. However, the risks of genetics research often are influenced by what subjects disclose to others after their research participation has ended. To assess whether the current consent process helps subjects remember the risks of future disclosures and, thereby, minimize the risks of genetics research, we interviewed 130 individuals who had previously participated in genetics research. Nineteen percent recalled that their samples would undergo genetic testing; 16% recalled that samples might be used for future research; 15% recalled that release of research records could affect their insurance status. These data suggest that current consent practices may not minimize the risks of genetics research. To address this concern, Institutional Review Boards and investigators should consider implementing supplemental mechanisms to help subjects remember when forgetting aspects of their research participation could place them at increased risk. © 2002 Wiley‐Liss, Inc.
Regularized boundary element solution for an inverse boundary value problem in linear elasticity
Authors: Marin L. , Lesnic D. 
Published: November 2002

AbstractIn this paper the Tikhonov regularization method is analysed for the ill‐conditioned system of linear equations which arises from the discretization of an ill‐posed boundary value problem in linear elasticity. The choice of the regularization parameter is achieved according to the L‐curve method. Then the regularization method is numerically implemented using the boundary element method (BEM). Copyright © 2002 John Wiley & Sons, Ltd.
Syntheses of some new 1,5‐benzothiazepine derivatives and their ribofuranosides as antimicrobial agents
Authors: Singh Girwar , Kumar Neeraj , Yadav Ashok K. , Mishra A. K. 
Published: November 2002

Abstract(±)‐cis‐2‐(4‐Methoxyphenyl)‐3‐hydroxy/methoxy‐6‐ethoxy/phenoxy‐2,3‐dihydro‐1,5‐benzothiazepin‐4‐[5H/5‐chloroacetyl/5‐(4′‐methylpiperazino‐1′)acetyl]‐ones have been synthesized by the condensation of 2‐amino‐3‐ethoxy/phenoxybenzenethiol with methyl‐(±)‐trans‐3‐(4‐methoxyphenyl)glycidate in xylene. Ribofuranosides, viz. (±)‐cis‐2‐(4‐methoxyphenyl)‐3‐methoxy‐6‐ethoxy/phenoxy‐2,3‐dihydro‐1,5‐benzothiazepin‐4‐[5‐(2′,3′,5′‐tri‐O‐benzoyl‐β‐D‐ribofuranosyl)]‐ones, have been synthesized by the treatment of 3‐methoxy derivatives of 1,5‐benzothiazepines with a derivative, sugar, viz. β‐D‐ribofuranose‐1‐acetate‐2,3,5‐tribenzoate, in toluene in vacuo. The structures of all the synthesized ribofuranosides and their precursors have been characterized on the basis of elemental analyses and IR,1H NMR, and13C NMR spectral data. These compounds were screened for their antimicrobial activity. © 2002 Wiley Periodicals, Inc. Heteroatom Chem 13:620–625, 2002; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/hc.10051
P‐bis(trifluoromethyl) ylides: Synthesis and reactions
Authors: Dieckbreder Uwe , Röschenthaler Gerd‐Volker , Kolomeitsev Alexander A. 
Published: November 2002

AbstractBis(trifluoromethyl)phosphines RP(CF3)2 (R = Me, NEt2) were methylated by MeOSO2CF3, yielding the respective phosphonium salts [RP(CF3)2Me]+ and CF3SO3−. Deprotonation using MeNP(NEt2)3 led to the phosphorus ylides RP(CF3)2CH2, stable in solution at ambient temperature, which could be converted into 1,2λ5σ5‐oxaphosphetanes by adding hexafluoroacetone. © 2002 Wiley Periodicals, Inc. Heteroatom Chem 13:650–653, 2002; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/hc.10061
Rescue of retroviral envelope fusion deficiencies by cationic liposomes
Authors: Porter Colin D. 
Published: November 2002

AbstractBackgroundRetroviral particles that are inappropriately enveloped can transduce target cells if pre‐associated with cationic liposomes. This study optimises and addresses the mechanism of liposome‐enhanced gene delivery, and explores the potential for such agents to compensate for fusion deficiency associated with chimaeric envelope proteins.MethodsParticles bearing wild‐type, chimaeric or no envelope proteins were complexed with DOTAP or DC‐Chol/DOPE cationic liposomes and added to target cells for various times. Particle binding was determined by detection of cell‐associated capsid protein and infectivity was measured histochemically.ResultsStable association of cationic liposomes with retrovirus particles significantly enhanced their binding rate to target cells in proportion to the increase of transduction kinetics for infectious virus. Binding of virus was equivalent with or without envelope protein and/or virus receptor, indicating that a non‐specific interaction precedes receptor recognition. Non‐infectious combinations were rescued by the intrinsic fusogenicity of the cationic liposomes, which enabled entry of the viral core, but left subsequent events unaltered. The optimised transduction rate with non‐enveloped particles and DOTAP approached that of amphotropic‐enveloped virus in some cases, although the effect was target‐cell‐dependent. DC‐Chol/DOPE was less potent at direct fusion but was able to enhance 600‐fold the receptor‐dependent action of chimaeric envelopes that were deficient in fusion by virtue of the addition of targeting domains.ConclusionsThese data have implications for the development of retroviral vector targeting strategies from the perspectives of the specificity of target cell interaction and compensating for chimaeric envelope fusion deficiency. Copyright © 2002 John Wiley & Sons, Ltd.
Novel promoter/transactivator configurations for macrolide‐ and streptogramin‐responsive transgene expression in mammalian cells
Authors: Weber Wilfried , Kramer Beat P. , Fux Cornelia , Keller Bettina , Fussenegger Martin 
Published: November 2002

AbstractBackgroundThe recently developed heterologous macrolide‐ (E.REX system) and streptogramin‐ (PIP system) responsive gene regulation systems show significant differences in their regulation performance in diverse cell lines.MethodsIn order to provide optimal regulation modalities for a wide variety of mammalian cell lines, we have performed a detailed analysis of E.REX and PIP systems modified in (i) the transactivation domains of the antibiotic‐dependent transactivators, (ii) the type of minimal promoter used, and (iii) the spacing between the operator module and the minimal promoter.ResultsThese novel E.REX and PIP regulation components showed not only dramatically improved regulation performance in some cell types, but also enabled their use in cell lines which had previously been inaccessible to regulated transgene expression.ConclusionsDue to their modular set‐up the novel E.REX and PIP regulation systems presented here are most versatile and ready for future upgrades using different cell‐specific key regulation components. Copyright © 2002 John Wiley & Sons, Ltd.
Identification of triterpene saponins in Quercus robur L. and Q. petraea Liebl. heartwood by LC‐ESI/MS and NMR
Authors: Arramon G. , Saucier C. , Colombani D. , Glories Y. 
Published: November 2002

AbstractA detailed structural study of the major acidic triterpene saponins from European oak heartwood, Quercus robur L. and Q. petraea Liebl., revealed the presence of 2α,3β,19α‐trihydroxyolean‐12‐ene‐24,28‐dioic acid (1), 2α,3β,19α‐23‐tetrahydroxyolean‐12‐ene‐24,28‐dioic acid (2), and their corresponding glycosides, 28‐β‐D‐glucopyranosyl‐2α,3β,19α‐trihydroxyolean‐12‐ene‐24,28‐dioic acid (3), and 28‐β‐D‐glucopyranosyl‐2α,3β,19α,23‐tetrahydroxyolean‐12‐ene‐24,28‐dioic acid (4). Compounds were isolated and purified by successive flash chromatography and semi‐preparative HPLC, and structurally determined by NMR and LC‐ESI/MS in the negative ion mode. Compounds 2 and 4 have been identified for the first time in Quercus species and are new compounds. Copyright © 2002 John Wiley & Sons, Ltd.
Synthesis of complex phosphopeptides as mimics of p53 functional domains
Authors: Varadi Gyorgyi , Otvos Laszlo 
Published: November 2002

AbstractA complete set of mono‐, di‐ and triphosphorylated peptides comprising amino acids 10–27, the Mdm2 and p300 binding site(s) of p53, with and without a fluorescein label at the N‐terminus, was synthesized by step‐by‐step solid phase synthesis. Fluorescence polarization analysis revealed that phosphorylation at Thr18 decreased binding to recombinant Mdm2 protein compared with the unphosphorylated and the two other single phosphorylated analogues. Unlabelled multiply phosphorylated peptides corresponding to this amino‐terminal transactivation domain proved to be powerful tools in analysing the phosphate specificity of existing anti‐p53 monoclonal and polyclonal antibodies using direct ELISA. The tetramerization domain of human p53 protein was modelled with a 53 residue‐long unlabelled unphosphorylated and Ser315‐phosphorylated peptide pair. CD analysis showed similar α‐helical structures for both peptides and no major difference in the secondary structure could be observed upon phosphorylation. Size‐exclusion HPLC indicated that these synthetic oligomerization domain mimics underwent a pH‐dependent tetramerization process, but the presence of a phosphate group at Ser315 did not modify the oligomeric state of the 308–360 p53 fragments. Nevertheless, the fluorescein‐labelled Ser315 phosphorylated peptide bound to the downstream signalling ligand DNA topoisomerase I protein with slightly higher affinity than did the unphosphorylated analogue. Copyright © 2002 European Peptide Society and John Wiley & Sons, Ltd.
Translational Crawl and Path Tracking of a Quadruped Robot
Authors: Chen Xuedong , Watanabe Keigo , Kiguchi Kazuo , Izumi Kiyotaka 
Published: November 2002

AbstractTranslational crawl and path tracking are presented for a quadruped robot,
named TITAN‐VIII, to walk on rough ground. The generalized and explicit formulation
is derived to generate the translational crawl gait in an arbitrary direction
automatically, to control the joint positions, and to estimate the robot localization
in a walking environment. Compared to conventional gaits, the proposed gait
is characterized by a natural and continuous transition between any successive
gait cycles, by a maximized stride of the robot in each gait cycle, and by
different foot trajectories corresponding to the uneven terrain. Especially,
the proposed approach enables the quadruped robot to track a reference path
in a complex walking environment, based on dead‐reckoning localization for
the robot. The effectiveness of the proposed method is demonstrated through
the experimental results. © 2002 Wiley Periodicals, Inc.
A bounding chain for Swendsen‐Wang
Authors: Huber Mark 
Published: November 2002

AbstractThe greatest drawback of Monte Carlo Markov chain methods is lack of knowledge of the mixing time of the chain. The use of bounding chains solves this difficulty for some chains by giving theoretical and experimental upper bounds on the mixing time. Moreover, when used with methodologies such as coupling from the past, bounding chains allow the user to take samples drawn exactly from the stationary distribution without knowledge of the mixing time. Here we present a bounding chain for the Swendsen‐Wang process. The Swendsen‐Wang bounding chain allow us to efficiently obtain exact samples from the ferromagnetic Q‐state Potts model for certain classes of graphs. Also, by analyzing this bounding chain, we will show that Swendsen‐Wang is rapidly mixing over a slightly larger range of parameters than was known previously. © 2002 Wiley Periodicals, Inc. Random Struct. Alg., 22: 43–59, 2002
An elementary proof of a theorem of Johnson and Lindenstrauss
Authors: Dasgupta Sanjoy , Gupta Anupam 
Published: November 2002

AbstractA result of Johnson and Lindenstrauss [13] shows that a set of n points in high dimensional Euclidean space can be mapped into an O(log n/ϵ2)‐dimensional Euclidean space such that the distance between any two points changes by only a factor of (1 ± ϵ). In this note, we prove this theorem using elementary probabilistic techniques. © 2002 Wiley Periodicals, Inc. Random Struct. Alg., 22: 60–65, 2002
THE LINDENBAUM ALGEBRA OF THE THEORY OF THE CLASS OF ALL FINITE MODELS
Authors: LEMPP STEFFEN , PERETYAT'KIN MIKHAIL , SOLOMON REED 
Published: November 2002

In this paper, we investigate the Lindenbaum algebra ℒ(T fin ) of the theory T fin = Th (M fin ) of the class M fin of all finite models of a finite rich signature. We prove that this algebra is an atomic Boolean algebra while its Gödel numeration γ is a [Formula: see text]-numeration. Moreover, the quotient algebra (ℒ(T fin )/ℱ, γ/ℱ) modulo the Fréchet ideal ℱ is a [Formula: see text]-algebra, which is universal over the class of all [Formula: see text] Boolean algebras. These conditions characterize uniquely the algebra ℒ(T fin ); moreover, these conditions characterize up to recursive isomorphism the numerated Boolean quotient algebra (ℒ(T fin )/ℱ, γ/ℱ). These results extend the work of Trakhtenbrot [17] and Vaught [18] on the first order theory of the class of all finite models of a finite rich signature.
Diisocyanate‐exposed auto body shop workers: A one‐year follow‐up
Authors: Redlich C.A. , Stowe M.H. , Coren B.A. , Wisnewski A.V. , Holm C.T. , Cullen M.R. 
Published: November 2002

AbstractBackgroundDiisocyanates currently are the most commonly identified cause of occupational asthma in industrialized countries. Auto body shops, a common hexamethylene diisocyanate (HDI) exposure setting, are difficult to study due to their small size and episodic exposures.ObjectivesA 1‐year follow‐up was undertaken as an adjunct to the cross‐sectional SPRAY study (Survey of Painters & Repairers of Auto bodies by Yale) to investigate the effects of HDI on auto body shop workers over time and whether or not the healthy worker effect may exist in this industry.Methods and ResultsForty‐eight workers from seven shops were re‐contacted. Thirty‐four subjects who stayed at the same shop and 11 who left their original shop participated. No statistically significant changes in physiology, symptoms, and immunologic responses from baseline to follow‐up were noted. However, significant differences between those who left the shops and those who stayed were noted. Those who left were younger, less experienced in the industry, and more likely to have a history of asthma (23 vs. 3%; P < 0.05), bronchial hyper‐responsiveness (23 vs. 9%), HDI‐specific IgG (64 vs. 29%; P < 0.05), and HDI‐specific proliferation (S.I. 2.0 vs. 1.3; P < 0.05).ConclusionsThe differences in workers who stayed at their shop compared to those who left, combined with the low asthma prevalence and high job turnover rate, all suggest that a healthy worker effect may exist in the auto body industry, and may in part account for the low prevalence of asthma noted in SPRAY and other cross‐sectional studies of diisocyante workers. Am. J. Ind. Med. 42:511–518, 2002. © 2002 Wiley‐Liss, Inc.
Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: Report of a case
Authors: Dumić Miroslav , Cvitanović Marijana , Ŝarić Borna , Ŝpehar Anita , Batinica Stipe 
Published: November 2002

AbstractWe report on a 11‐year‐old girl with bilateral choanal stenosis, hypothelia, hearing loss, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly. Only three individuals with choanal atresia from a consanguineous family have been reported. One of the patients also had hypoplastic nipples, hypotonia, and delay in speech development. Similar clinical features were seen in two children reported by Greenberg [1987: Am J Med Genet 28:931–934] and Wilson et al. [1998: Am J Med Genet 75:220–222]. They were prenataly exposed to methimazole because of maternal Graves disease. Neck fistulas and microcephaly noted in our patient were not previously reported as features of the syndrome or in the patients prenataly exposed to methimazole. Our patient and those reported by Qazi et al. [1982: Am J Med Genet 13:413–416] most probably have a rare syndrome characterized by this distinctive combination of symptoms. Prenatal exposure to methimazole can cause a phenocopy of the syndrome, which was probably the case in the patients reported by Greenberg and Wilson et al. © 2002 Wiley‐Liss, Inc.
Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?
Authors: Ferrero Giovanni Battista , Valenzise Mariella , Franco Brunella , Defilippi Claudio , Gregato Giuliana , Corsello Giovanni , Pepe Ernesto , Silengo Margherita 
Published: November 2002

AbstractA girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290–293], suggesting a new variant form of oral‐facial‐digital syndrome. © 2002 Wiley‐Liss, Inc.
Teebi hypertelorism syndrome: Report of a family with previously unrecognized findings
Authors: Tsai Anne Chun‐Hui , Robertson Jacqualyn R. , Teebi Ahmad S. 
Published: November 2002

AbstractWe present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth‐finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high‐resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized. © 2002 Wiley‐Liss, Inc.
Estimation of the Euler method error on a Riemannian manifold
Authors: Bielecki Andrzej 
Published: November 2002

AbstractThis article presents an estimation of the Euler method on a Riemannian manifold. A distance between the nth iteration of the cascade generated by the time‐h map of a gradient flow and the nth iteration of the cascade generated by the Euler method of this flow is estimated. The application possibilities of the presented estimation are also discussed. Copyright © 2002 John Wiley & Sons, Ltd.
GRSIM: A FORTRAN subroutine for the solution of non‐symmetric linear systems
Authors: Shah A. A. 
Published: November 2002

AbstractA FORTRAN subroutine called GRSIM subroutine is presented for the iterative solution of a set of non‐symmetric linear equations, Ax = b, where the coefficient matrix A is a sparse nearly symmetric structured M‐matrix. These matrices occur repeatedly in the finite‐difference solution of partial differential equations. The method solves non‐symmetric systems of linear equations, but uses highly developed techniques for the solution of symmetric systems of linear equations. A general description of the method, which is based on particular class of regular splitting, is given. The GRSIM subroutine uses a regular splitting and the convergence is, therefore, guaranteed. Copyright © 2002 John Wiley & Sons, Ltd.