bluuebunny/crossref_metadata_2025 huggingface dataset:
Charge Association
Authors: Oley Christine A.
Published: January 2005

The CHARGE association is a nonrandom occurrence of congenital malformations including coloboma, congenital heart defects, choanal atresia, retardation of growth, developmental delay, genital abnormalities, ear abnormalities, and deafness. The cause remains unknown. Various genetic mechanisms have been proposed, but there has not been any consistent cytogenetic or molecular defect described. Most cases are sporadic.
Coffin‐Lowry Syndrome
Authors: Hunter Alasdair G.W.
Published: January 2005

Coffin‐Lowry syndrome is a distinctive X‐linked dominantly inherited condition that has a birth prevalence of about 1/50,000 and is caused by mutations in theRDS6KA3gene. The hemizygous male presents with significant mental retardation and a facial appearance characterized by a prominent forehead and supraorbital ridges; down‐slanting palpebrae and hypertelorism; a distinctive nose with a low bridge, thick septum, small and anteverted nares; and full and patulous lips with the lower lip everted. The hands are soft and hyperextensible with tapering fingers, and there are a number of minor and nonspecific radiographic changes that may aid in the diagnosis. Progressive kyphoscoliosis can be an important complication. Clinical expression in the heterozygous female can range from completely normal intelligence and appearance, through mild degrees of intellectual impairment and facial dysmorphia, to expression equaling that in the male. There is evidence to suggest a significant risk of premature death, primarily related to pulmonary and cardiac complications but in some cases remaining unexplained.
Deletion 22
q
13 Syndrome (
P
helan‐
M
c
D
ermid Syndrome)
Authors: Phelan Mary C. , Stapleton Gail A. , Rogers R. Curtis
Published: January 2005

The deletion 22q13 syndrome results from loss of a segment of the distal long arm of chromosome 22. Simple deletions, rings, unbalanced translocations, and other less common structural chromosome abnormalities have been associated with this deletion syndrome. The major clinical features are neonatal hypotonia, global developmental delay, absent or severely delayed speech, and normal to accelerated growth. Facial features include dolichocephaly, full brow, flat midface, wide nasal bridge, bulbous nose, deep‐set eyes, ptosis, long eyelashes, puffy eyelids, full cheeks, and prominent ears. Other common features are large fleshy hands, dysplastic toenails, high tolerance to pain, and mouthing or chewing behaviors. Less common features are arachnoid cysts, lymphedema, and hearing loss. There are no apparent life‐threatening defects of the organ systems. Therapies to improve muscle tone, coordination, strength, cognitive skills, and communication skills are beneficial to many individuals. Haploinsufficiency for the gene SHANK3/PROSAP2 is the most likely cause for the neurological deficits associated with deletion 22q13. The eponym for deletion 22q13 is Phelan‐McDermid Syndrome
Kabuki Syndrome
Authors: Hudgins Louanne
Published: January 2005

Kabuki syndrome (Kabuki makeup syndrome, Niikawa‐Kuroki syndrome) is a multiple‐malformation syndrome characterized by distinctive facial features (long palpebral fissures, eversion of the lower lateral eyelid, arched eyebrows with sparse or dispersed lateral one third, depressed nasal tip, and large, prominent ears), mental retardation, and postnatal growth deficiency. The etiology is unknown, however, it is suspected to be an autosomal dominant disorder. Malformations involving almost every system have been described. The various manifestations of this disorder are described and suggested evaluations and treatment are reviewed.
Pallister‐Hall andGreig Cephalopolysyndactyly Syndromes
Authors: Biesecker Leslie G.
Published: January 2005

Pallister‐Hall syndrome and Greig cephalopolysyndactyly syndrome are allelic pleiotropic developmental anomaly syndromes due to abnormalities of the GLI3 gene. In spite of the fact that they are allelic and have a wide range of severity, the two syndromes are clinically distinct and rarely confused. Frequent manifestations of Pallister‐Hall syndrome include hypothalamic hamartoma with or without pituitary dysplasia and endocrine dysfunction, central and postaxial polydactyly, bifid epiglottis or laryngeal cleft, and imperforate anus. Individuals with typical Greig cephalopolysyndactyly syndrome have macrocephaly, hypertelorism, and postaxial or preaxial polysyndactyly. Both disorders are rare (less than 1/500,000) but rapid recognition, especially of Pallister‐Hall syndrome, is critical for making early management decisions. It appears that both disorders have an equal incidence in all population groups.
Russell‐Silver Syndrome
Authors: Saal Howard M.
Published: January 2005

Russell‐Silver syndrome is a genetically heterogeneous condition characterized by intrauterine growth retardation, postnatal growth delay, normal growth velocity, normal head circumference, triangular face, variable degrees of body asymmetry (usually limb length asymmetry), fifth‐finger clinodactyly, and normal intelligence. This diagnosis has been made in children with intrauterine growth retardation caused by various etiologies, and, therefore, the number of described clinical features found in the literature has been greatly expanded. The most consistent etiology, seen in about 10% of patients, is maternal disomy for chromosome 7. Because of the apparent etiologic heterogeneity of this condition, there exists confusion with regard to the true incidence and natural history of the Russell‐Silver syndrome, as well as to how this information may be used in counseling individual families regarding anticipatory management and recurrence risk. It is probably of greatest benefit to identify this condition as a phenotype, reserving the diagnosis of Russell‐Silver syndrome for individuals with all classical features.
Smith‐Lemli‐Opitz Syndrome
Authors: Cunniff Christopher , Grebe Theresa A.
Published: January 2005

The cardinal features of Smith‐Lemli‐Opitz syndrome areprenatal growth deficiency, microcephaly, developmental delay, characteristic facial features, cleft palate, cardiac defects, hypospadias, polydactyly, and 2–3 toe syndactyly. Almost all affected individuals have developmental delay or mental retardation. The facial appearance is characterized by narrow bifrontal diameter, ptosis, down‐slanting palpebral fissures, and a short nose with a depressed nasal bridge and anteverted nares. Retrognathia is common. This is an autosomal‐recessive trait with widely variable expression. It is caused by deficiency of the enzyme 7‐dehydrocholesterol reductase, the final step of the cholesterol biogenesis pathway. The minimum incidence is 1 in 60,000 giving a carrier frequency of 1 in 122.
Smith‐Magenis Syndrome
Authors: Smith Ann C. M. , Gropman Andrea
Published: January 2005

Smith‐Magenis syndrome is a multisystem, multiple congenital anomaly/mental retardation syndrome caused by an interstitial deletion of chromosome 17p11.2. Many cases have been identified worldwide from a diversity of ethnic groups. The diagnosis is based on the clinical recognition of a unique and complex pattern of physical, developmental, and behavioral features, many of which are subtle in early childhood, becoming more distinctive with advancing age. There is a characteristic craniofacial appearance with rather close‐set, deep‐set eyes under heavy brows, a square jaw, and an unusual full, everted upper lip. Speech delay with or without hearing loss is common. Ocular abnormalities are frequently found and short stature with failure to thrive is often seen. There are variable levels of intellectual handicap and the neurobehavioral phenotype includes sleep disturbance with an inverted circadian rhythm of melatonin, self‐injurious behaviors, stereotypies, and sensory integration disorders.
S
otos Syndrome
Authors: Cole Trevor R. P.
Published: January 2005

Sotos syndrome is a well‐known overgrowth syndrome that may be only slightly less common than Beckwith‐Wiedemann syndrome, for which a birth prevalence of 1 in 13,700 has been reported. Prior to the identification of mutations in the
NSD1
gene, the diagnosis was dependant on the presence of four key features—rapid early overgrowth, advanced bone age, developmental delay, and a characteristic facial appearance. While it is now known that individuals with
NSD1
mutations may not have all four diagnostic criteria, the characteristic facial appearance remains a very reliable discriminator.
TreacherCollins Syndrome
Authors: Jones Marilyn C.
Published: January 2005

Treacher Collins syndrome is an autosomal dominant disorder with a characteristic pattern of malformations including malformation of the auricle, usually associated with hearing loss secondary to atresia of the external auditory canal and/or malformation of the ossicles of the middle ear, down‐slanting palpebral fissures with variable deficiency of the zygomatic arch, coloboma or notching of the lateral portion of the lower eyelid with absence of the eyelashes medial to the notch, and hypoplasia of the facial bones resulting in micrognathia with prominence of the central facial structures. Other manifestations may include choanal atresia or stenosis, pharyngeal hypoplasia, submucous or overt cleft palate, tags of tissue or fistulae on the line between the tragus of the ear and the corner of the mouth, and an aberrant growth of hair extending onto the cheek in front of the ear. Intelligence is normal. Cleft lip with or without cleft palate is rare.
Graph theoretic methods for the analysis of structural relationships in biological macromolecules
Authors: Artymiuk Peter J. , Spriggs Ruth V. , Willett Peter
Published: January 2005

Subgraph isomorphism and maximum common subgraph isomorphism algorithms from graph theory provide an effective and an efficient way of identifying structural relationships between biological macromolecules. They thus provide a natural complement to the pattern matching algorithms that are used in bioinformatics to identify sequence relationships. Examples are provided of the use of graph theory to analyze proteins for which three‐dimensional crystallographic or NMR structures are available, focusing on the use of the Bron‐Kerbosch clique detection algorithm to identify common folding motifs and of the Ullmann subgraph isomorphism algorithm to identify patterns of amino acid residues. Our methods are also applicable to other types of biological macromolecule, such as carbohydrate and nucleic acid structures.
Bioinformatics resources from the National Center for Biotechnology Information: An integrated foundation for discovery
Authors: Rapp Barbara A. , Wheeler David L.
Published: January 2005

The National Center for Biotechnology Information (NCBI) provides access to more than 30 publicly available molecular biology resources, offering an effective discovery space through high levels of data integration among large‐scale data repositories. The foundation for many services is GenBank®, a public repository of DNA sequences from more than 133,000 different organisms. GenBank is accessible through the Entrez retrieval system, which integrates data from the major DNA and protein sequence databases, along with resources for taxonomy, genome maps, sequence variation, gene expression, gene function and phenotypes, protein structure and domain information, and the biomedical literature via PubMed®. Computational tools allow scientists to analyze vast quantities of diverse data. The BLAST® sequence similarity programs are instrumental in identifying genes and genetic features. Other tools support mapping disease loci to the genome, identifying new genes, comparing genomes, and relating sequence data to model protein structures. A basic research program in computational molecular biology enhances the database and software tool development initiatives. Future plans include further data integration, enhanced genome annotation and protein classification, additional data types, and links to a wider range of resources.
Molecular dynamics (MD) investigations of preformed structures of the transmembrane domain of the oncogenic Neu receptor dimer in a DMPC bilayer
Authors: Aller Pierre , Voiry Loïs , Garnier Norbert , Genest Monique
Published: January 2005

The critical Val/Glu mutation in the membrane spanning domain of the rat Neu receptor confers the ability for ligand‐independent signaling and leads to increased dimerization and transforming ability. There is evidence that the two transmembrane interacting helices play a role in receptor activation by imposing orientation constraints to the intracellular tyrosine kinase domains. By using MD simulations we have attempted to discriminate between correct and improper helix–helix packing by examining the structural and energetic properties of preformed left‐handed and right‐handed structures in a fully hydrated DMPC bilayer. The best energetic balance between the residues at the helix–helix interface and the residues exposed to the lipids is obtained for helices in symmetrical left‐handed interactions packed together via Glu side chain/Ala backbone interhelical hydrogen bonds. Analyses demonstrate the importance of the ATVEG motif in helix–helix packing and point to additional contacting residues necessary for association. Our findings, all consistent with experimental data, suggest that a symmetrical left‐handed structure of the helices could be the transmembrane domain configuration that promotes receptor activation and transformation. The present study may provide further insight into signal transduction mechanisms of the ErbB/Neu receptors. © 2005 Wiley Periodicals, Inc. Biopolymers, 2005
Parallel synthesis and biological evaluation of different sizes of bicyclo[2,3]‐Leu‐enkephalin analogues
Authors: Gu Xuyuan , Ying Jinfa , Min Byoung , Cain James P. , Davis Peg , Willey Patrick , Navratilova Edita , Yamamura Henry I. , Porreca Frank , Hruby Victor J.
Published: January 2005

Parallel synthesis of peptides and peptidomimetics has been an important approach to search for biologically active ligands. A novel systematic synthesis of different size bicyclic dipeptide mimetics was developed on solid‐phase supports. By taking advantage of the enantioselective synthesis of ω‐unsaturated amino acids and their N‐methylated derivatives, the hemiaminal problem was prevented in the pathway to thiazolidine formation. The bicyclic dipeptide was generated on the solid‐phase support in three steps by an unconventional method. By inserting this bicyclic scaffold into the synthesis of a larger bioactive peptide, 11 different sizes of bicyclo[2,3]‐Leu‐enkephalin analogues were synthesized in a fast and efficient way. Modeling studies show that a reversed turn structure at positions 2–3 was favored when an L‐ and L‐bicyclic scaffold was used, and that an extended conformation at the N‐terminal was favored when a D‐ and L‐bicyclic scaffold was inserted. Binding affinities and bioassay studies show ligands with micromolar binding affinities and antagonist bioactivities for the [6,5]‐ and [7,5]‐bicyclo‐Leu‐enkephalin analogues. © 2005 Wiley Periodicals, Inc. Biopolymers (Pept Sci), 2005
Synthesis, absolute configuration, and application of enantiopure trans‐1‐aminobenz[f]indan‐2‐ol
Authors: Kobayashi Yuka , Kinbara Kazushi , Sato Masaaki , Saigo Kazuhiko
Published: January 2005

Both novel enantiopure trans‐1‐aminobenz[f]indan‐2‐ols (4) were obtained from the racemate by the diastereomeric salt formation with (+)‐ and (–)‐dibenzoyltartaric acids (8), respectively, and the absolute configuration of the enantiomer 4 in the less‐soluble diastereomeric salt of racemic 4 with (+)‐8 was determined to be (1S,2S) by an X‐ray crystallographic analysis. The chiral recognition ability of the enantiopure amino alcohol was examined for the enantioseparation of racemic 2‐arylalkanoic acids by the diastereomeric salt formation. The role of the naphthylene group of the amino alcohol was found to be closely associated with the stabilization of the crystal by CH/π interactions on the basis of an X‐ray crystallographic study. Chirality 17:108–112, 2005. © 2005 Wiley‐Liss, Inc.
Thalidomide in the treatment of patients with hepatocellular carcinoma
Authors: Patt Yehuda Z. , Hassan Manal M. , Lozano Richard D. , Nooka Ajay K. , Schnirer Isaac I. , Zeldis Jerome B. , Abbruzzese James L. , Brown Thomas D.
Published: January 2005

BACKGROUND

The treatment of patients with hepatocellular carcinoma (HCC) presents a major challenge, because associated cirrhosis limits the choice of chemotherapeutic agents. However, the abundant vascularity of HCC presents an attractive target for antiangiogenic therapy that potentially may be tolerated by cirrhotic patients. The current study was conducted to assess the antitumor activity, treatment tolerance, treatment‐related toxicity, and patient survival after the administration of thalidomide in a Phase II trial.

METHODS

Thirty‐seven HCC patients were accrued between March, 1999, and March, 2000. Initially, the dose of oral thalidomide was escalated from 400 mg per day during the first week to 1000 mg per day by the fifth week, delivering one‐third of the dose in the morning and the remaining two‐thirds of the dose in the evening prior to bedtime. Changes in the daily drug administration schedule were allowed based on tolerance. Response was assessed at 8‐week intervals.

RESULTS

Thirty‐two of 37 registered patients were evaluable for response. One patient had a partial response (PR), 1 patient had a minor response (MR), 10 patients had stable disease (SD) (31%; 95% confidence interval [95%CI], 16–51%), and 20 patients) (61%; 95%CI, 42–78%) had disease progression. The most commonly encountered toxicity was somnolence, with Grade 3–4 somnolence (≥ 4 hours of sleep during normal waking hours) in 9 patients (35%) and Grade 2 somnolence (≤ 3 hours) in 30% of patients. In fact, only 48% of patients tolerated a daily dose > 800 mg if it was delivered at bedtime. Grade 3–4 skin reactions were observed in 20% of patients, and exfoliative dermatitis was observed in 1 responding patient. The overall median survival was 6.8 months.

CONCLUSIONS

With a 5% PR rate, a 5% MR rate, and a 31% SD rate, the results indicate that thalidomide mostly may offer HCC patients disease stabilization. It is possible that, at a different dosage, or combined with other chemotherapy agents, or with the use of a different thalidomide analogue, longer patient survival may be achieved. However, in view of the significant neurologic toxicity encountered among these commonly cirrhotic HCC patients, thalidomide monotherapy at the high doses studied cannot be recommended for the treatment of HCC. Cancer 2005. © 2005 American Cancer Society.
Development of camera model and calibration procedure for an oblique‐viewing endoscope
Authors: Yamaguchi Tetsuzo , Nakamoto Masahiko , Sato Yoshinobu , Hashizume Makoto , Sugano Nobuhiko , Yoshikawa Hideki , Tamura Shinichi
Published: January 2005

This paper proposes a camera projection model for an oblique‐viewing endoscope, intended for application to an extended virtual reality system. The oblique‐viewing endoscope differs from the forward‐viewing endoscope by the fact that the view field can be shifted by rotating the scope cylinder. The projection model proposed in this study describes the systematic relation between the rotation angle of the scope cylinder and the external parameters of the camera model. A calibration method is also proposed for estimating the parameters of the projection model, and its accuracy is investigated. The oblique‐viewing projection model is derived as an extension of the general pinhole camera model by adding two axes of rotation as parameters and using the angle of rotation of the scope cylinder as the input. In the experiment, an abdominal endoscope is used as the real equipment. A rotary encoder with an angular resolution of 0.25° is used to input the rotation angle of the scope cylinder. The accuracy is examined by the above condition for a scope cylinder rotation angle of 0 to 132°. The average projection error in the proposed model is 2.4 pixels. When the parameters needed in the model are not estimated, the error is increased to 5 to 8 pixels compared to the case in which they are estimated. It is thus shown that the parameters of the proposed model are indispensable in the description of the actual oblique‐viewing endoscope. Even if the number of data points for each angle is 2, an accuracy such that the average error is less than 2.8 pixels is obtained. © 2005 Wiley Periodicals, Inc. Electron Comm Jpn Pt 2, 88(2): 19–31, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/ecjb.20145
Extraction of outline in arbitrary shape from binary images using genetic algorithm
Authors: Abe Masahide , Ouchi Takashi , Kawamata Masayuki
Published: January 2005

This paper proposes a method of extracting the outline of an arbitrary shape in an image by using a genetic algorithm (GA). The image under consideration is a binary image containing a disconnected outline and noise. The proposed method extracts the outline from such a binary image as visually recognized by a human observer. First, the single outline extraction method is proposed, which extracts a single outline from the image. In the proposed method, Delaunay triangulation is applied to the point set in the binary image, and the graph containing the outline is derived. Then, the points and edges which can be recognized locally as the noise are eliminated. The outline is extracted from the graph after noise elimination using the GA. In the GA, gene coding is applied in which the polygons in the graph correspond to genes. It is shown experimentally that the outline of an arbitrary shape can be extracted by the proposed method. Next, the single outline extraction method is extended to a method by which multiple outlines contained in an image can be extracted. An experimental result is presented in which multiple outlines are extracted from an image. © 2005 Wiley Periodicals, Inc. Electron Comm Jpn Pt 2, 88(2): 32–46, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/ecjb.20146
Effects of priors in model selection problem of learning machines with singularities
Authors: Nishiue Koichiro , Watanabe Sumio
Published: January 2005

In statistical learning by information systems, operations are required for selecting the model that best fits the given criterion from among multiple model candidates. The types of criteria that can be used include a consistency criterion for detecting the true distribution according to a maximum probability and an efficiency criterion for minimizing the prediction error. Although criteria such as the AIC or BIC have been proposed and their characteristics have been studied in detail for a regular statistical model, there are many unknowns concerning criteria for selecting a learning model having singularities such as a neural network or mixed normal distribution. In this paper, the authors examine Bayesian learning by models having singularities and compare a method that always uses a positive prior distribution and a method that uses Jeffreys' prior distribution from viewpoints related to consistency and efficiency when selecting a model for minimizing the stochastic complexity. Based on a theoretical proposition that is already known, they rationally predict the difference between the two distributions and verify that prediction experimentally. In particular, they clearly demonstrate experimentally that when the family of learning models includes the true distribution, Jeffreys' prior distribution is superior in terms of both consistency and efficiency, but when the family of learning models does not include the true distribution, the prior distribution that always takes positive values is superior in terms of efficiency. © 2005 Wiley Periodicals, Inc. Electron Comm Jpn Pt 2, 88(2): 47–58, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/ecjb.20147
Electric field optimization of the power cable joint by using evolutionary calculation method
Authors: Yonetsu Daigo , Hara Takehisa , Shimada Shigeki , Kaji Mikio
Published: January 2005

This paper examines electric field optimizations at the joint of power cables by using evolution strategy [(1+1)‐ES, (µ+λ)‐ES] and genetic algorithm which are so‐ called evolutionary calculation methods. The object of the paper is to minimize the electric field strength on the inner curved electrode under the constraint that the electric field strength along the interface between the two different insulators should be below the permissible value. The surface charge method that provides accurate solutions on the boundaries for the multilayer substances with a relatively small number of elements is employed for the calculation of the electric field distribution. Three evolutionary calculation methods are employed for the optimization method. Because these methods employ mutation and rearrangement (cross‐over) processes, the shape design can be performed widely and locally. As a result, each method can reduce the electric field strength on the inner curved electrode while the electric field strength along the interface was kept below the permissible value. The search results of each optimization method were compared and (µ+λ)‐ES was found to have the best performance of the three methods. © 2005 Wiley Periodicals, Inc. Electr Eng Jpn, 150(4): 44–53, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/eej.10287
Hybrid configuration of Darrieus and Savonius rotors for stand‐alone wind turbine‐generator systems
Authors: Wakui Tetsuya , Tanzawa Yoshiaki , Hashizume Takumi , Nagao Toshio
Published: January 2005

The suitable hybrid configuration of Darrieus lift‐type and Savonius drag‐type rotors for stand‐alone wind turbine‐generator systems is discussed using our dynamic simulation model. Two types of hybrid configurations are taken up. Type A installs the Savonius rotor inside the Darrieus rotor and Type B installs the Savonius rotor outside the Darrieus rotor. The computed results of the output characteristics and the dynamic behavior of the system operated at the maximum power coefficient points show that Type A, which has fine operating behavior to wind speed changes and can be compactly designed because of a shorter rotational axis, is an effective way for stand‐alone small‐scale systems. © 2005 Wiley Periodicals, Inc. Electr Eng Jpn, 150(4): 13–22, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/eej.20071
Monomeric and polymeric anionic gemini surfactants and mixed surfactant systems in micellar electrokinetic chromatography. Part I: Characterization and application as novel pseudostationary phases
Authors: Akbay Cevdet , Gill Nicole L. , Powe Aleeta , Warner Isiah M.
Published: January 2005

Sodium di(undecenyl) tartarate monomer (SDUT), a vesicle‐forming amphiphilic compound possessing two hydrophilic carboxylate head groups and two hydrophobic undecenyl chains gemini surfactant, was prepared and polymerized to form a polymeric gemini surfactant (i.e., poly‐SDUT). These anionic surfactant systems with carboxylate (SDUT and poly‐SDUT) and sulfate (sodium dodecyl sulfate, SDS) head groups as well as mixed surfactant systems (SDS/SDUT, SDS/poly‐SDUT, and SDUT/poly‐SDUT) were then applied as novel pseudostationary phases in micellar electrokinetic chromatography (MEKC). The SDUT and poly‐SDUT were characterized using various analytical techniques. Retention factors of 36 benzene derivatives were calculated in 20 mM phosphate buffer of each surfactant system. The retention factor values of the test solutes show that there are distinctive selectivity differences between the surfactant systems. Solute‐pseudostationary phase interactions in MEKC were also examined by determining the free energy of transfer of the substituted functional groups from the aqueous buffer phase into the pseudostationary phase.
A new type of migrating zone boundary in electrophoresis: 1. General description of boundary behavior based on electromigration dispersion velocity profiles
Authors: Gebauer Petr , Boček Petr
Published: January 2005

Till now two principal types of electrophoretic boundaries have been recognized: a steady‐state one showing self‐sharpening properties and an unsteady‐state one showing electromigration dispersion (EMD). In this contribution, the existence of a third (hybrid) type of electrophoretic boundary is revealed, that shows simultaneously: (i) steady‐state character with self‐sharpening properties in a certain part of the boundary, demarcated by a certain range of its composition; (ii) unsteady‐state character with EMD in the resting part. A new theoretical approach to the study of the structure and properties of electrophoretic boundaries is presented, based on EMD velocity profiles representing the dependence of the EMD velocity on the composition in any point of the transition region across the boundary. According to this approach, the linearity or nonlinearity of the EMD velocity profile is recommended as the criterion for distinguishing the actual type of the boundary in question. It is shown that the new type of electrophoretic boundary is not an exotic case but may be observed even in simple systems as, e.g., formed by adjacent zones containing mixtures of current species such as picrate and acetate. Computer simulations are presented which confirm the theoretical conclusions and illustrate the three types of electrophoretic boundaries.
An integrated mBAND and submegabase resolution tiling set (SMRT) CGH array analysis of focal amplification, microdeletions, and ladder structures consistent with breakage–fusion–bridge cycle events in osteosarcoma
Authors: Lim Gloria , Karaskova Jana , Beheshti Ben , Vukovic Bisera , Bayani Jane , Selvarajah Shamini , Watson Spencer K. , Lam Wan L. , Zielenska Maria , Squire Jeremy A.
Published: January 2005

Osteosarcoma (OS) is characterized by chromosomal instability and high‐copy‐number gene amplification. The breakage–fusion–bridge (BFB) cycle is a well‐established mechanism of genomic instability in tumors and in vitro models used to study the origins of complex chromosomal rearrangements and cancer genome amplification. However, until now, there have been no high‐resolution cytogenetic or genomic array studies of BFB events in OS. In the present study, multicolor banding (mBAND) FISH and submegabase resolution tiling set (SMRT) array comparative genomic hybridization (CGH) were used to identify and map genomic signatures of BFB events in four OS cell lines and one patient tumor. The expected intermediates associated with BFB—dicentric chromosomes, inverted duplications, and intra‐ and interchromosomal amplifications—were identified. mBAND analysis provided detailed mapping of rearrangements in 1p, 6p, and 8q and showed that translocation junctions were often in close proximity to fragile sites. More detailed mBAND studies of OS cell line MG‐63 revealed ladderlike FISH signals of equally spaced interchromosomal coamplifications of 6p21, 8q24, and 9p21–p22 in a homogeneously staining region (hsr). Focal amplifications that concordantly mapped to the hsr were localized to discrete genomic intervals by SMRT array CGH. The complex amplicon structure in this hsr suggests focal amplifications immediately adjacent to microdeletions. Moreover, the genomic regions in which there was deletion/amplification had a preponderance of fragile sites. In summary, this study has provided further support for the role of the BFB mechanism and fragile sites in facilitating gene amplification and chromosomal rearrangement in OS. © 2005 Wiley‐Liss, Inc.
Components of behavioral pathology in dementia
Authors: Schreinzer Daniel , Ballaban Thomas , Brannath Werner , Lang Thomas , Hilger Eva , Fasching Peter , Fischer Peter
Published: January 2005

Objective

The purpose of this study was to examine the occurence of the noncognitive behavioral and psychological symptoms and signs of dementia in a geriatric chronic‐care hospital and to separate agitated and affective components of behavioral pathology using factor analysis.

Methods

The frequency and severity of Alzheimer's disease, vascular dementia, mixed dementia and Lewy Body dementia was assessed in 145 consecutive residents of a chronic‐care hospital. The presence of noncognitive behavioral symptoms was evaluated with the Behavioral Pathology in Alzheimer's Disease Rating Scale (BEHAVE‐AD) and the Cohen‐Mansfield Agitation Inventory (CMAI). A Factor analysis on the BEHAVE‐AD subscores was performed to create symptom clusters. Analysis of covariance and post hoc tests were used to compare means of factor variables between different types of dementia.

Results

Statistical analysis showed a significant correlation between severity of dementia and BEHAVE‐AD total score and between severity of dementia and CMAI total score. Factor analysis with Varimax rotation revealed the presence of three behavioral subsyndromes: agitation, affectivity and day/night disturbances.

Conclusions

The finding of three factors of behavioral pathology in demented patients reflects the possibility that different etiological mechanisms could explain the expression of the symptoms and signs of psychosis in demented patients. Copyright © 2005 John Wiley & Sons, Ltd.
Physical health, depression and cognitive function as correlates of disability in an older Korean population
Authors: Kim Jae‐Min , Stewart Robert , Glozier Nicholas , Prince Martin , Kim Sung‐Wan , Yang Su‐Jin , Shin Il‐Seon , Yoon Jin‐Sang
Published: January 2005

Background

The World Health Organisation Disability Assessment Schedule II (WHODAS II) measures functioning and disability in concordance with the bio‐psycho‐social model of the WHO's International Classification of Functioning, Disability, and Health. Our objectives were to investigate the independent associations of physical health, depression and cognitive function with WHODAS II disability in an older Korean population.

Methods

The WHODAS II was administered to a community sample of 1204 residents age 65 or over. Data on demographic characteristics (age, gender, living area, marital state, and religion), socio‐economic state (education, type of accommodation, number of rooms, previous occupation, current employment, monthly income), social support, number of physical illness, depression (GMS), and cognitive function (MMSE) was gathered. A subsample (n = 746) received a clinical examination for dementia.

Results

Scores on the WHODAS II were significantly and independently associated with worse physical health, depression, and lower cognitive function. Associations with other factors were no longer apparent after adjustment for these. These associations persisted in the absence of dementia. In participants with dementia (n = 110), WHODAS II scores were principally associated with physical health and accommodation type.

Conclusions

Level of disability, as measured by the WHODAS II, was principally associated with physical health, depression and cognitive function, rather than socio‐demographic factors. Copyright © 2005 John Wiley & Sons, Ltd.
Helix Inversion and Aggregation Behavior of Chiral Poly(N‐propargylamides)
Authors: Tabei Junichi , Nomura Ryoji , Shiotsuki Masashi , Sanda Fumio , Masuda Toshio
Published: January 2005

Summary: N‐Propargyl‐2‐methyloctanamide, (1), N‐propargyl‐2‐ethyloctanamide, (2), and N‐propargyl‐2‐propyloctanamide, (3) were polymerized with (nbd)Rh+[η6‐C6H5B−(C6H5)3] as a catalyst to obtain the polymers with moderate molecular weights ( = 15 000–57 000). The 1H NMR spectra demonstrated that the polymers had a stereoregular structure (cis = 100%). The polymers were proven to take a helical conformation with an excess of one‐handed screw‐sense in CHCl3, which was supported by their intense CD signals and large specific rotations. The signs of Cotton effects of poly(2) and poly(3) were dependent on the solvents used for CD measurement, while that of poly(1) was independent of the solvents. In CHCl3/THF or CHCl3/toluene mixtures, the sign of Cotton effect of poly(2) was inverted with changing the solvent composition at 20 °C, and the Cotton effects of poly(2) in CHCl3/toluene = 70/30 and CHCl3/THF = 80/20 were largely influenced by temperature. From the filtration and light scattering experiments of poly(2), the CD sign inversion was proved to be the screw sense inversion.

magnified image
Cover Picture: Macromol. Chem. Phys. 2/2005
Authors: Wang Zhaobo , Li Guicun , Xie Guangwen , Zhang Zhikun
Published: January 2005

Cover: The cover picture presents the dispersion behavior of LDPE/TiO2 master batch and TiO2 nanoparticles in the LLDPE/LDPE/TiO2 composite films during the melt compounding process. The LDPE/TiO2 master batch is crushed into micron scale dispersed phases as a result of shear stress. TiO2 nanoparticles are released to ambient matrix, then form a wide ring surrounding the dispersed phases.

Further details can be found in the Full Paper by Zhaobo Wang*, Guicun Li, Guangwen Xie, Zhikun Zhang on page 258.
The Synthesis of Magnetic Core‐Shell Nanoparticles by Surface‐Initiated Ring‐Opening Polymerization of ε‐Caprolactone
Authors: Schmidt Annette M.
Published: January 2005

Summary: The synthesis of core‐shell particles with a poly(ε‐caprolactone) (PCL) shell and magnetite (Fe3O4) contents of between 10 wt.‐% and 41 wt.‐% proceeds by surface‐initiated ring‐opening polymerization of ε‐caprolactone to give surface‐immobilized oligomers with $\overline M _{\rm n}$ between 1 400 g · mol−1 and 11 500 g · mol−1. The particles are dispersable in good solvents for the PCL shell. Magnetization experiments on the resulting superparamagnetic ferrofluids give a core‐size distribution with an average diameter, dv, of about 9.7 nm.

TEM image of Fe3O4/PCL core‐shell particles cast from CHCl3 dispersion.

image

TEM image of Fe3O4/PCL core‐shell particles cast from CHCl3 dispersion.
Cognitive‐ and movement‐related potentials recorded in the human basal ganglia
Authors: Rektor Ivan , Bareš Martin , Brázdil Milan , Kaňovský Petr , Rektorová Irena , Sochǔrková Daniela , Kubová Dagmar , Kuba Robert , Daniel Pavel
Published: January 2005

Sources of potentials evoked by cognitive processing of sensory and motor activities were studied in 9 epilepsy surgery candidates with electrodes implanted in the basal ganglia (BG), mostly in the putamen. Several contacts were also located in the pallidum and the caudate. The recorded potentials were related to a variety of cognitive and motor activities (attentional, decisional, time estimation, sensory processing, motor preparation, and so on). In five different tests, we recorded P3‐like potentials evoked by auditory and visual stimuli and sustained potential shifts in the Bereitschaftspotential and Contingent Negative Variation protocols. All of the studied potentials were generated in the BG. They were recorded from all over the putamen. Various potentials on the same lead or nearby contacts were recorded. A functional topography in the BG was not displayed. We presume that the cognitive processes we studied were produced in clusters of neurons that are organized in the basal ganglia differently than the known functional organization, e.g., of motor functions. The basal ganglia, specifically the striatum, may play an integrative role in cognitive information processing, in motor as well as in nonmotor tasks. This role seems to be nonspecific in terms of stimulus modality and in terms of the cognitive context of the task. © 2005 Movement Disorder Society
The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium
Authors: Zauber N Peter , Sabbath‐Solitare Marlene , Marotta Stephen P , Timothy Bishop D
Published: January 2005

Mutations of the adenomatous polyposis coli (APC) gene play a critical role in the development of colorectal neoplasms. A novel mechanism involves a germline variant, at codon 1307 of the APC gene. The mutation is thought to create an unstable segment of DNA, which facilitates the development of somatic mutations. I1307K has been shown to be ancestral in Middle Eastern populations. The aim of the present study was to confirm this observation for a Western population and to utilize this information in the characterization of the somatic changes in colorectal neoplasia in carriers of I1307K. DNA from 182 US Ashkenazim was screened for the I1307K variant, which was found in 22 (12.1%), and the ancestral nature of this variant was confirmed in this population by showing that all of those with the I1307K variant carried a specific allele at the D5S346 locus, while the majority shared a D5S1385 allele. Subsequently, 79 neoplasms were analysed from 15 I1307K carriers for loss of heterozygosity (LOH) at the D5S346 locus. LOH was detected in 18 neoplasms (23%). Of these 18, four neoplasms showed loss of the I1307K‐associated allele, while 14 neoplasms had retained the I1307K‐associated allele and, by implication, the I1307K variant. PCR products were also cloned into a plasmid vector to isolate individual APC alleles. For those neoplasms with LOH, 13 of the 18 neoplasms (72%) had a somatic mutation, of which 12 involved the I307K‐bearing chromosome. This study is consistent with two previous studies in showing that additional somatic mutations close to codon 1307 are almost always on the I1307K‐bearing chromosome, but either allele may demonstrate LOH. Further evidence for the interpretation of the action of I1307K as producing DNA instability is provided by analysing multiple neoplasms from the same person and by showing that these neoplasms have differing patterns of LOH and associated somatic mutations. Copyright © 2002 John Wiley & Sons, Ltd.
Diverse p53 alterations in ulcerative colitis‐associated low‐grade dysplasia: full‐length gene sequencing in microdissected single crypts
Authors: Yoshida Tsutomu , Mikami Tetuo , Mitomi Hiroyuki , Okayasu Isao
Published: January 2005

In long‐standing ulcerative colitis (UC), p53 mutations have been shown to occur by indirect detection methods such as PCR–SSCP. To clarify whether p53 gene mutations are early events in UC‐associated neoplasia and to analyse clonality within dysplasia‐associated lesions or masses (DALMs), the entire coding region of the p53 gene was analysed in DNA of microdissected single crypts by the polymerase chain reaction (PCR)–direct sequencing method. With a novel microdissection method using serial histological sections, the p53 gene (exons 2–11) was analysed in a total of 11 regenerative crypts and 76 single crypts within seven DALMs selected from three colectomy specimens of long‐standing UC patients. Although p53 point mutations were found in at least one crypt in each DALM, heterogeneity in terms of the presence and the type of genetic change was marked, except in one carcinoma. As early events, p53 gene mutations were apparent even in some regenerative crypts (8/12 crypts). Some were of silent type. Altered p53 protein expression was confirmed in only 14/32 mutated crypts and was also evident in 24 other non‐mutated examples by immunostaining of serial sections. Polyclonal p53 gene mutations were found in regenerative (REG) crypts and low‐grade dysplasia (LGD), but monoclonal changes were noted in high‐grade dysplasia (HGD) or carcinoma (Ca) in long‐standing UC. At the single crypt level, however, p53 point mutations were not always linked to p53 overexpression, indicating a discrepancy between gene alteration and protein accumulation in LGD. Copyright © 2002 John Wiley & Sons, Ltd.
Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?
Authors: Sieber Oliver , Lipton Lara , Heinimann Karl , Tomlinson Ian
Published: January 2005

The APC I1307K allele is believed to predispose to multiple colorectal tumours because the change at the nucleotide level—A3TA4 to A8—creates a hypermutable site. Slippage of the A8 tract undoubtedly occurs more often than expected in the tumours of I1307K carriers, but many of these tumours do not harbour changes at this site. Outside the A8 tract, the tumours of I1307K carriers appear to harbour fewer somatic frameshift mutations than expected. There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer. Most I1307K patients and families who have undergone analysis of somatic APC mutations have been highly selected. It is therefore possible that many APC I1307K carriers with multiple adenomas have a susceptibility to tumours additional to that resulting from the A8 tract. Copyright © 2003 John Wiley & Sons, Ltd.
Comparative genomic hybridization analysis of bilateral hyperplasia of usual type of the breast
Authors: Jones Chris , Merrett Samantha , Thomas Valerie A , Barker Tim H , Lakhani Sunil R
Published: January 2005

Hyperplasia of usual type (HUT) is part of the spectrum of benign proliferative disease in the breast and confers an increased risk of developing invasive cancer. Its role as a putative precursor of invasive ductal carcinomas in the breast is, however, controversial. HUT is occasionally seen bilaterally but it is not clear whether there is a genetic predisposition to the process. This study has analysed 14 cases of bilateral HUT in the breast (28 independent lesions) by comparative genomic hybridization (CGH) analysis to define DNA copy number changes and to investigate any commonality in these genetic alterations. The mean number of alterations seen was 1.6 (46/28) in all lesions, with common losses at chromosomes 1p, 16p, 17q, and 22q. Bilaterally, only five alterations were seen in common across both lesions in both breasts, but no single locus was altered preferentially. These data indicate that a proportion of HUT in the breast are indeed clonal, neoplastic proliferations which exhibit genetic alterations in common with invasive breast cancer, albeit at very low levels. The limited data from these experiments do not reveal a specific predisposition locus. Copyright © 2003 John Wiley & Sons, Ltd.
Nuclear expression of Y‐box‐binding protein‐1 correlates with P‐glycoprotein and topoisomerase II alpha expression, and with poor prognosis in synovial sarcoma
Authors: Oda Yoshinao , Ohishi Yoshihiro , Saito Tsuyoshi , Hinoshita Eiji , Uchiumi Takeshi , Kinukawa Naoko , Iwamoto Yukihide , Kohno Kimitoshi , Kuwano Michihiko , Tsuneyoshi Masazumi
Published: January 2005

Nuclear expression of the Y‐box‐binding protein (YB‐1) has been reported to correlate with the expression of P‐glycoprotein in breast cancer and osteosarcoma. Overexpression of the ATP‐binding cassette (ABC) superfamily, such as P‐glycoprotein/multi‐drug resistance (MDR) 1 and MDR‐associated protein (MRP) 1, 2 and 3, has been reported in various malignant neoplasms. Fifty‐four surgically resected synovial sarcomas were examined immunohistochemically for nuclear expression of YB‐1 and intrinsic expression of P‐glycoprotein, MRP1, MRP2, and topoisomerase II α, and the findings were compared with clinicopathological parameters, proliferative activities as evaluated by MIB‐1 labelling index (LI), and the patients' prognoses. In addition, MDR1, MRP1, MRP2, and MRP3 mRNA levels were assessed using a quantitative reverse transcriptase‐polymerase chain reaction (RT‐PCR) method in 22 concordant frozen specimens from these cases and the findings were compared with six control skeletal muscle tissues. Independent prognostic factors were investigated using the Cox proportional hazards regression model. Nuclear expression of YB‐1 protein correlated with P‐glycoprotein expression (p = 0.0126). Moreover, cases with nuclear expression of YB‐1 correlated with poor survival (p = 0.0495) and showed a high topoisomerase II α labelling index (topo II α LI) (p = 0.0056) and a high MIB‐1 LI (p = 0.01). Multivariate Cox analysis showed that only the nuclear expression of YB‐1 (p = 0.0136) and high American Joint Committee on Cancer (AJCC) stage (ie stage III or IV) (p < 0.0001) were independent factors for poor prognosis, while the expression of the YB‐1 responsive gene products examined was not. These results indicate that the nuclear expression of YB‐1 protein is associated with P‐glycoprotein expression and proliferative activity as shown by the topo II α LI and the MIB‐1 LI, and that expression of this protein is an important independent prognostic factor in synovial sarcoma. Copyright © 2003 John Wiley & Sons, Ltd.