bluuebunny/crossref_metadata_2025_split huggingface dataset:
Down Syndrome
Authors: Hunter Alasdair G. W. 
Published: January 2005

AbstractDown syndrome is the most common identifiable genetic cause of mental retardation. The facial appearance of persons with the syndrome is very characteristic and is frequently associated with other minor anomalies and malformations of other body systems, most importantly the cardiovascular and gastrointestinal systems. Individuals with Down syndrome also have an increased rate of a number of acquired medical complications including those of the thyroid gland and the gastrointestinal, upper‐respiratory, audiological, hematological, and neurological systems. It is thus important for persons with Down syndrome to be followed in a systematic fashion and for them to have access to appropriate specialists in order to anticipate, prevent, or modify potential complications. Current research continues to shed light on many behavioral and medical aspects of Down syndrome, but many questions remain about the relationship between the trisomy of chromosome 21, the developmental and behavioral pattern, and the health complications.
Ehlers‐Danlos Syndromes
Authors: Wenstrup Richard J. , Hoechstetter Leah B. 
Published: January 2005

AbstractThe Ehlers‐Danlos syndromes are a genetically, biochemically, and clinically diverse group of heritable connective tissue conditions. Once classified as 11 separate disorders, a new nomenclature has significantly reduced this number. The Ehlers‐Danlos syndromes have a combined estimated prevalence of 1 in 5000. Features common to all forms include joint laxity and dermal findings.
Hereditary Hemorrhagic Telangiectasia
Authors: Porteous Mary E. M. , Berg Jonathan N. 
Published: January 2005

AbstractHereditary hemorrhagic telangiectasia is an autosomal dominant disease of blood vessels, affecting approximately 1 in 8000 individuals. It is characterized by mucocutaneous telangiectases, recurrent epistaxes, gastrointestinal bleeding, and arteriovenous malformations in the lungs, brain, and liver. Hereditary hemorrhagic telangiectasia can be caused by mutations in either the endoglin gene or theALK1gene, both of which encode proteins involved in serine‐threonine kinase signaling in the endothelial cell. These genes are thought to account for the majority of cases. Currently, the diagnosis is made using published clinical diagnostic criteria. Affected younger adults may be presymptomatic, so mutation analysis, where available, is an important adjunct to clinical diagnosis.
Incontinentia Pigmenti
Authors: Donnai Dian 
Published: January 2005

AbstractFamilial incontinentia pigmenti, sometimes referred to as incontinentia pigmenti 2, is a multisystem disorder affecting predominantly females, although rare male cases have been described. Pedigree analysis supports X‐linked‐dominant inheritance and 50% of the female offspring of an affected woman will inherit the condition and manifest it to a variable extent. Affected women have an increased risk of miscarriage, most likely representing male lethal conceptions. The cutaneous manifestations are diagnostic and classically occur in four stages: vesicular, verrucous, hyperpigmented, and atrophic. They occur in the distribution of Blaschko's lines. In addition to these cutaneous manifestations, there may be a variety of dental, ocular, neurologic, and developmental abnormalities.
Marfan Syndrome
Authors: Schrijver Iris , Alcorn Deborah M. , Francke Uta 
Published: January 2005

AbstractMarfan syndrome is an autosomal dominant connective tissue disorder that affects 1–2 per 10,000 individuals. The diagnosis of Marfan syndrome is strongly based on clinical criteria, such as aortic dilatation or dissection, ectopia lentis, and dural ectasia. The identification of mutations in the fibrillin‐1 (FBN1) gene may be included in the diagnostic evaluation.FBN1mutations have also been detected in individuals with other fibrillinopathies. We discuss diagnosis, pathogenesis, and treatments of this group of disorders.
Neurofibromatosis Type 1
Authors: Viskochil David 
Published: January 2005

AbstractNeurofibromatosis type 1 (often abbreviated to NF1) is associated with myriad features, some of which are congenital anomalies while others are age‐related abnormalities of tissue proliferation. It is an autosomal dominant condition with a high degree of variability in clinical expression. Although it is fully penetrant in adults, there is an age‐related penetrance for a number of the individual clinical signs. Cutaneous manifestations include café‐au‐lait patches, distinctive freckling patterns, and dermal neurofibromas. Other signs include Lisch nodules, skeletal dysplasia, optic pathway tumor, and plexiform neurofibroma. Neurofibromatosis type 1 affects approximately 1 in 3500 individuals worldwide.
Oculo‐Auriculo‐Vertebral Spectrum
Authors: Gorlin Robert J. 
Published: January 2005

AbstractThe predominant defects in this nonrandom association of craniofacial anomalies represent problems in morphogenesis of the first and second branchial arches, usually of a unilateral nature. These may be accompanied by vertebral and/or ocular abnormalities. The many terms used for this complex indicate the broad spectrum of anomalies described and emphasized by those reporting them. This entity has been known as hemifacial microsomia, oculo‐auriculo‐vertebral dysplasia, Goldenhar syndrome, Goldenhar‐Gorlin syndrome, first and second branchial arch syndrome, and lateral facial dysplasia.
Prader‐Willi Syndrome
Authors: Cassidy Suzanne B. , Mccandless Shawn E. 
Published: January 2005

AbstractThe major features of this multisystem disorder include prenatal and neonatal central hypotonia causing poor suck and infantile failure to thrive, characteristic facial appearance, developmental delay/generally mild mental retardation, childhood‐onset obesity, short stature for the family, hypogonadism causing genital hypoplasia and pubertal insufficiency, and a characteristic behavior disorder. Obesity‐related complications are the major cause of morbidity and mortality. The cause of Prader‐Willi syndrome is absence of paternal contribution at chromosome 15q11‐13, a region involving genomic imprinting, through deletion, maternal uniparental disomy, or an imprinting defect. The specific genes involved are not yet definitively delineated. Clinical diagnostic criteria for Prader‐Willi syndrome have been published, but confirmation requires diagnostic testing, which is clinically available. Management is mostly supportive since no definitive treatment is known. Special feeding techniques are usually required to avoid or treat failure to thrive in infancy. Early infant stimulation followed by special educational resources can optimize developmental outcome. Obesity can be avoided or treated through appropriate nutrition, exercise, and environmental controls. Growth deficiency and abnormal body composition (high fat:lean body mass) respond well to growth hormone replacement. Sex hormones can be given to replace the deficient ones. Behavioral problems are treated through parenting skill enhancement, behavior modification, or psychotropic medication. Treatment of abnormal saliva secretion and sleep disturbance are also possible.
R
obin Sequence
Authors: Shprintzen Robert J. 
Published: January 2005

Abstract
Robin or Pierre Robin sequence is the association of micrognathia, a wide, U‐shaped cleft palate, and upper airway obstruction. It may be associated with other mandibular abnormalities such as retrognathia and asymmetry. It is an etiologically heterogeneous disorder that most often occurs as part of a multiple anomaly syndrome. Two syndromes constitute over 40% of all cases, namely Stickler and velo‐cardio‐facial syndromes. It has been estimated that only 17% of Robin sequences are isolated. Therefore an initial diagnosis of Robin sequence must be regarded as a starting point in the diagnostic search.
Rubinstein‐Taybi Syndrome
Authors: Hennekam Raoul C. M. 
Published: January 2005

AbstractThe Rubinstein‐Taybi syndrome is a multiple congenital anomaly syndrome that is mainly characterized by a peculiar face, broad thumbs, broad big toes, short stature, and mental retardation. The facial appearance is striking, in part due to the dysmorphic features, but also due to their facial expression. The syndrome shows a pleiotrophy of features, of which the behavior, orthopedic problems, keloid formation, and increased tumor risk are especially important. The syndrome is caused byde novoheterozygous constitutional deletions or mutations of the CREB‐binding protein (CBP) gene.
S
tickler Syndrome
Authors: Francomano Clair , Wilkin Douglas J. , Liberfarb Ruth M. 
Published: January 2005

Abstract
Stickler syndrome, also known as hereditary progressive arthro‐ophthalmopathy, is an autosomal dominant connective tissue disorder affecting primarily the ocular, orofacial, and skeletal systems. Progressive myopia begins in the first decade of life and affected persons exhibit premature degenerative changes in various joints with slight hypermobility. Midface hypoplasia is usually evident in early life. Changes in three collagen genes lead to these features.
Trisomy 18 and Trisomy 13 Syndromes
Authors: Carey John C. 
Published: January 2005

AbstractThe trisomy 18 and trisomy 13 syndromes represent important and common conditions of human aneusomy. Together, their combined prevalence in live‐born infants approaches 1 in 4000 births. These syndromes are unique among chromosome disorders as well as the other conditions described in this text since about 90% of children with trisomies 18 and 13 die before their first birthday. Because of this high infant mortality rate, the conditions are sometimes labeled simplistically as “lethal.” However, about 10% of infants do indeed survive. Regardless of the figures for survival, the parents of the child and the practitioners caring for the family seek an approach to management and health supervision as in any other serious medical disorder. Ongoing support and care by professionals are crucial to a family whose child has an uncertain prognosis. This chapter will provide a concise review of the literature of the syndromes and a plan of management for the primary care of children with trisomies 18 and 13.
Tuberous Sclerosis
Authors: Yates John R. W. 
Published: January 2005

AbstractTuberous sclerosis (or tuberous sclerosis complex) is a multisystem disorder characterized by tumor‐like lesions (hamartomas) in the brain, skin, and other organs and is often associated with seizures and mental retardation. The major diagnostic features are facial angiofibromas, forehead plaques, ungual fibromas, hypomelanotic macules, shagreen patches, retinal astrocytic hamartomas, cortical tubers, subependymal nodules, subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. The disorder shows autosomal dominant inheritance with approximately two‐thirds of affected children being born to unaffected parents as the result of a new dominant mutation. The condition is caused by mutations in either theTSC1gene (chromosome 9q34) or theTSC2gene (chromosome 16p13.3). The management of tuberous sclerosis presents many challenges because of the range of organs involved, the different ages at which the manifestations can appear, and the wide variation in severity.
VATER
Association
Authors: Hall Bryan D. 
Published: January 2005

Abstract
The VATER/VACTERL association is a complex malformation disorder with three to seven primary anomalies of unknown etiology involving the spine, anus, heart, trachea, esophagus, kidneys, and limbs. Prognosis varies depending on which areas are abnormal and the degree to which each malformation can be corrected or ameliorated. Many surgical and medical specialists may be utilized acutely and chronically to treat and manage each child's problems. Successful management of children with the VATER/VACTERL association optimizes a potentially good prognosis.
Properties and microstructure of polyurethane resins from liquefied wood
Authors: Wei Yuping , Cheng Fa , Li Houping , Yu Jiugao 
Published: January 2005

AbstractIn this article, polyurethane resins were synthesized from liquefied benzylated wood and toluene diisocyanate (TDI)–trihydromethylene propane (TMP) prepolymer (as curing agent). The relations of their segmented structure and properties of were investigated. Results indicated that polyurethane resins made from benzylated wood solution have good mechanical and thermal properties. With the increase of curing agent amount from 23.8 to 53.5%, the degree of phase segregation increased, and under experimental conditions in this article, phase transition was detected with a curing agent amount of 69.9%. After this transition, the mechanical properties of polyurethane resins were improved. Thermal history treatment can also influence microstructure and thermal stabilities of polyurethane samples. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95: 1175–1180, 2005
Studies on chain transfer reaction in butadiene polymerization initiated withn‐butyl lithium and novel promoter potassiumpara‐methylphenoxide
Authors: Yang Xiao , Wang Yurong , Jia Jingsheng 
Published: January 2005

AbstractThe chain transfer reaction was examined in the anionic telomerization of butadiene withn‐BuLi as the initiator, potassiumpara‐methylphenoxide (ROK) as the novel promoter, mixed xylene as the transfer agent as well as a solvent in the presence of diglyme as the polar modifier. Effects of ROK, diglyme, and the polymerizing temperature were studied. It was demonstrated that they all promote the chain transfer reaction. The relative constant of chain transfer to the solvent was also calculated. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95: 1215–1218, 2005
Prediction of rubber stability by accelerated aging test modeling
Authors: Rodionova Oxana Y. , Pomerantsev Alexey L. 
Published: January 2005

AbstractThis study was devoted to the prediction of polymer material aging. The prediction of the shelf time of tire rubber is used as an example in this article. The main steps of the whole procedure are described. They are the design of the experiment, accelerated aging testing, the construction of a multiresponse mathematical model and parameter estimation, and the extrapolation of the model in real‐life settings. The main pitfalls were deduced, and techniques to overcome these pitfalls are described. Novel methods of data modeling, such as evolutionary design of experiment and successive Bayesian estimation, were used. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95: 1275–1284, 2005
Moisture effects on FM300 structural film adhesive: Stress relaxation, fracture toughness, and dynamic mechanical analysis
Authors: LaPlante Gabriel , Lee‐Sullivan Pearl 
Published: January 2005

AbstractThe behavior of cured FM300 epoxy, a structural film adhesive, subjected to partial and full moisture saturation has been evaluated. Three separate but interrelated test methods were used: stress relaxation, fracture toughness, and dynamic mechanical testing. The mechanical response of the epoxy due to increasing moisture content was dependent on the testing method. In stress relaxation testing, the epoxy was plasticized when partially saturated with moisture, but it became more rigid when fully saturated. The plasticization‐to‐stiffening transition was not observed in the other two test methods. Fracture testing showed that the material toughness increased with increasing moisture concentration: plasticization effects were dominant. Similar changes in the loss modulus were found in dynamic mechanical analysis. We propose that the differences in behavior have been due to differences in load levels and loading rates used in these probing techniques. Stress relaxation testing, at a relatively lower load and loading rate, appeared to be more sensitive to the localized interactions between the absorbed water molecules and the crosslinked structure. Higher loads and loading rates tended to reveal the bulk effects of plasticization only. Nevertheless, there was also strong evidence from glass‐transition temperature measurements that these moisture effects were mostly reversible. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95:1285–1294, 2005
NMR structures and orientation of the fourth transmembrane domain of the rat divalent metal transporter (DMT1) with G185D mutation in SDS micelles
Authors: Li Hongyan , Li Fei , Kwan Miufan , He Qing‐Yu , Sun Hongzhe 
Published: January 2005

AbstractDMT1, also known as Nramp2, is an iron transporter, and belongs to the family of Nramp proteins. Disease‐causing mutations both in Nramp1 and Nramp2 occurring at the conserved two adjacent glycine residues located within the fourth transmembrane domain (TM4) suggest that TM4 may serve an important biological function. In the present study, we have determined the high‐resolution structures of a synthetic peptide, corresponding to the sequence of the fourth transmembrane domain of rat DMT1 with G185D mutation, in membrane‐mimetic environments (e.g., SDS micelles) using NMR spectroscopy and distance‐geometry/simulated annealing calculations. The spatial structures showed α‐helices without a kink in the middle portion of the peptide, with a highly flexible and poorly defined N‐terminus. Both the N‐terminus and the helical core of the peptide were embedded into the SDS micelles. Interestingly, the folding and membrane location of the C‐terminus was pH dependent, being well‐folded and inserted into SDS micelles only at a low pH value (4.0). The peptide exhibited amphipathic characteristics, with hydrophilic residues (Asp7, Thr11, Asp14, and Thr15) lying in one side of the helix, which provide a basis for the formation of water‐filled channel architectures through self‐associations. The significant broadening of the resonances of the hydrophilic residues Asp7, Thr11, and Asp14, which are buried inside SDS micelles, upon addition of Mn2+ further verified the possibility of the formation of a channel through which metal ions pass. The substitution of Gly7 by an aspartate residue neither significantly altered the structure and membrane location of the peptide nor abolished its properties of channel forming and metal permeation compared with the wild‐type peptide. © 2005 Wiley Periodicals, Inc. Biopolymers, 2005
The characteristics of young and adult dyslexics readers on reading and reading related cognitive tasks as compared to normal readers
Authors: Miller‐Shaul Shelley 
Published: January 2005

AbstractMost of the research into dyslexia has been carried out among children and has raised the question whether the characteristics of young dyslexics are similar to those of adult dyslexics. The aim of this research was, therefore, to confirm whether the cognitive deficits, which appear among young dyslexics on reading and reading related tasks, are similar among adult dyslexics.Four groups of subjects were tested in this study: two groups of fourth graders, dyslexic and normal readers, and two groups of students, compensated dyslexics and normal readers.A comparison of the differences in research measures between the young dyslexics and their control group, and between the adult dyslexics and their control group, clearly indicates that the difference between regular readers and dyslexics is significantly smaller in the adult group on orthographic tasks, and this difference increases in adults on phonological tasks.The findings of this study reinforce the assumption that dyslexics have particular difficulty with the phonological‐auditory channel. Another main finding is the slow speed of processing in verbal and non‐verbal tasks. It can be assumed that these problems start at a young age and persist in compensated adult dyslexics. Copyright © 2005 John Wiley & Sons, Ltd.
A forward‐propagation learning rule for acquiring inverse models in multilayered neural networks
Authors: Nagasawa Kazuyuki , Fukumura Naohiro , Uno Yoji 
Published: January 2005

AbstractMany proposals have been presented for the acquisition of inverse models in multilayered neural networks. However, most are concerned with the backpropagation rule or its improvement. In learning in a multilayered neural network based on the backpropagation rule, there must be a supervisor signal for the output layer, and there must be a particular path to propagate the learning signal in the reverse direction. In addition, convergence is slow due to the use of the method of steepest descent in updating the weights. Consequently, this paper proposes a forward‐propagation rule in which the neural network model is trained by propagating the motion error exhibited by the control object in the forward direction in the neural network. In the proposed algorithm, the extended Newton's method is used to derive the goal signal (which corresponds to the supervisor signal) in the hidden layer and the output layer. Since linear multiple regression can be used in weight updating for realizing the goal signals, the iteration of weight updating can be reduced compared to the method of steepest descent. A computer simulation was performed for acquisition of a two‐link arm model, and the effectiveness of the proposed learning scheme was verified. © 2005 Wiley Periodicals, Inc. Electron Comm Jpn Pt 2, 88(2): 59–68, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/ecjb.20148
Impact of reservoir potentials on the analyte behavior in microchip electrophoresis: Computer simulation and experimental validation for DNA fragments
Authors: Xu Zhongqi , Nakamura Yousuke , Hirokawa Takeshi 
Published: January 2005

AbstractFundamental understanding of the impact of reservoir potentials on the analyte behavior on the microfluidic chips is an important issue in microchip electrophoresis (MCE) for suitable injection and separation of analytes, since the applied potentials may significantly affect the shape of sample plug, sample leakage from the injection channel to the separation channel, injected sample amount, and separation efficiency. This study addressed this issue for the case of a conventional cross‐geometry microchip with four reservoirs using computer simulations, the results of which were verified by the analysis of DNA fragments. For the microchip with a definite structure and migration distance, the injected sample amount was shown to be the vital parameter for improving the limit of detection and resolution. During injection, the shape of the sample plug could be adjusted by varying the reservoir potentials. It was demonstrated that a “magnified injection” (applying high voltage on the three reservoirs to the sample reservoir) is useful to enhance the detection sensitivity depending on the analyte composition, although such injection was previously avoided because of introducing too large amounts of the analyte in comparison with two established modes, floating and pinched injection. Optimal magnified injection was proved to improve the sensitivity for about 4 times over that of pinched injection for the analysis of DNA step ladders using microchip gel electrophoresis (MCGE). Sample leakage of DNA fragments could be suppressed by applying a high positive voltage on injection channel during separation, but the voltage degraded the injected amount and resolution.