bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pallister‐Hall andGreig Cephalopolysyndactyly Syndromes
Authors: Biesecker Leslie G. 
Published: January 2005

AbstractPallister‐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

AbstractRussell‐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

AbstractThe 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

AbstractSmith‐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

Abstract

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

AbstractTreacher 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

AbstractSubgraph 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

AbstractThe 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

AbstractThe 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

AbstractParallel 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

AbstractBoth 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

AbstractBACKGROUNDThe 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.METHODSThirty‐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.RESULTSThirty‐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.CONCLUSIONSWith 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

AbstractThis 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

AbstractThis 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

AbstractIn 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

AbstractThis 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

AbstractThe 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