bluuebunny/crossref_metadata_2025_split huggingface dataset:
Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
Authors: Monroy Nancy , López Marisol , Cervantes Alicia , García‐Cruz Diana , Zafra Gildardo , Canún Sonia , Zenteno Juan Carlos , Kofman‐Alfaro Susana 
Published: August 2002

AbstractTurner syndrome is a chromosomal disorder in which all or part of one X chromosome is missing. The meiotic or mitotic origin of most cases remains unknown due to the difficulty in detecting hidden mosaicism and to the lack of meiotic segregation studies. We analyzed 15 Turner patients, 10 with a 45,X whereas the rest had a second cell line with abnormal X‐chromosomes: a pseudodicentric, an isochromosome, one large and one small ring, and the last with a long arm deletion. Our aims were: to detect X cryptic mosaicism in patients with a 45,X constitution; to determine the parental origin of the abnormality; to infer the zygotic origin of the karyotype and to suggest the timing and mechanism of the error(s) leading to the formation of abnormal X chromosomes from maternal origin. Molecular investigation did not revealed heterozygosity for any microsatellite, excluding X mosaicism in the 45,X cases. Parental origin of the single X chromosome was maternal in 90% of these patients. Three of the structurally abnormal Xs were maternally derived whereas the other two were paternal. These results allowed us to corroborate breakpoints in these abnormal X chromosomes and suggest that the pseudodicentric chromosome originated from post‐zygotic sister chromatid exchange, whereas the Xq deleted chromosome probably arose after a recombination event during maternal meiosis. © 2001 Wiley‐Liss, Inc.
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene
Authors: Srivastava Tarak , O'Neill J. Patrick , Dasouki Majed , Simckes Ari M. 
Published: August 2002

AbstractA 6‐year‐old boy was determined to have partial hypoxanthine phosphoribosyl transferase (HPRT) enzyme deficiency without the phenotypic features of Lesch‐Nyhan syndrome. He presented with recurrent acute renal failure (ARF) from hyperuricemia. Treatment with allopurinol prevented further attacks of renal failure. T lymphocyte cultures were used to sequence the HPRT cDNA and a novel single nucleotide substitution at codon 65 in exon 3 was found (193C > T, 65leu > phe). This mutation was confirmed by genomic DNA sequencing and was also detected in his heterozygous, asymptomatic mother and sister. Unlike the cells from patients with classic Lesch‐Nyhan syndrome, the in vitro cultures of our patient's T‐lymphocytes did not proliferate in the presence of purine analogue 6‐thioguanine (TG). This report highlights the unusual occurrence of recurrent ARF in a child with partial HPRT enzyme deficiency. The absence of TG resistance in vitro with this mutation shows that even small alterations in enzyme activity in vivo can result in disease symptoms, in this instance, hyperuricemia sufficient to cause ARF. Atypical HPRT mutations should also be considered in cases of unusual renal failure, because correct diagnosis can allow appropriate treatment, as well as informed genetic counseling. © 2002 Wiley‐Liss, Inc.
Mutation screening and transmission disequilibrium study of ATP10C in autism
Authors: Kim Soo‐Jeong , Herzing Laura B.K. , Veenstra‐VanderWeele Jeremy , Lord Catherine , Courchesne Rachel , Leventhal Bennett L. , Ledbetter David H. , Courchesne Eric , Cook Edwin H. 
Published: August 2002

AbstractAutism is a complex genetic disorder. Chromosome 15 is of particular interest in this disorder, because of previous reports of individuals with autism with chromosomal abnormalities in the 15q11‐q13 region. Transmission disequilibrium between polymorphisms in this region and autism has been also been reported in some, but not all studies. Recently, a novel maternally expressed gene, ATP10C, was characterized and mapped to the chromosome 15q11‐q13 region, 200 kb distal to UBE3A. It encodes a putative aminophospholipid translocase likely to be involved in the asymmetric distribution of proteins in the cell membrane. Preferential maternal expression has been demonstrated in fibroblasts and brain. Because of its physical location and imprinting pattern, ATP10C was considered to be a candidate gene for chromosome 15‐associated autism. In an effort to find the genes responsible for autism in this chromosomal region, 1.5 kb of the 5′ flanking region, as well as the coding and splicing regions of ATP10C, were screened for sequence variants. Several polymorphic markers including five nonsynonymous SNPs were identified. To investigate transmission disequilibrium between ATP10C and autism, a family‐based association study was conducted for 14 markers in 115 autism trios. No significant transmission disequilibrium was found, suggesting ATP10C is unlikely to contribute strongly to susceptibility to autism in these families. However, due to limited power to detect genes of modest effect, the possible functional role of the nonsynonymous SNPs and the functional implications of the SNPs identified from 5′ flanking region and intron 2 splicing region may be evaluated in further studies. © 2002 Wiley‐Liss, Inc.
Fifty‐one prenatally diagnosed children and adolescents with sex chromosome abnormalities
Authors: Linden Mary G. , Bender Bruce G. 
Published: August 2002

AbstractChildren with sex chromosome abnormalities (SCA) are known to be at risk for developmental delays. These risks were identified 2 decades ago by seven international research groups who prospectively followed children ascertained after birth. Subsequently, some of these investigators suggested the course of prenatally identified children with SCA may be different from children in earlier studies. The first such evidence was published by Robinson et al. [1992: Am J Med Genet 44:365–368], who compared 20 prenatally diagnosed children to the original postnatally diagnosed cohort. The following report presents an update and expansion of that research and includes 51 children and adolescents prenatally diagnosed with SCA, now 7–18 years of age. Results confirm that this cohort of prenatally diagnosed children has a milder developmental course than children ascertained postnatally. The study provides new information to health professionals counseling families faced with prenatal diagnosis of SCA. © 2002 Wiley‐Liss, Inc.
Velo‐cardio‐facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders
Authors: Arnold Paul D. , Siegel‐Bartelt Jacqueline , Cytrynbaum Cheryl , Teshima Ikuko , Schachar Russell 
Published: August 2002

AbstractVelo‐cardio‐facial syndrome (VCFS) is a congenital malformation syndrome with variable phenotypic features that has been associated with chromosomal microdeletion 22q11.2. Psychiatric disorders have been reported to be highly prevalent in individuals with this syndrome, and the objective of this study was to assess the nature and extent of psychopathology among individuals with VCFS. We studied 20 children and adolescents with 22q11 deletions determined by fluorescence in situ hybridization (FISH). Control subjects were 11 nondeleted siblings who were the closest age match to the affected subjects. Both affected and control subjects were assessed using two standardized psychiatric research instruments. The results of this study confirmed the high rate of psychiatric disorders among VCFS subjects (60% of our subjects). Of the specific types of disorders, only mood disorders were significantly more common among VCFS subjects compared to sibling controls, with eight VCFS subjects having mood disorders compared with none of the control subjects (P<0.02). Three affected subjects had schizotypal traits comorbid with a mood disorder. In addition, disruptive behavior disorders were frequently diagnosed among VCFS subjects. Using a dimensional measure of psychopathology, significant differences between VCFS subjects and sibling controls were found on three scales: ADHD (P<0.02), separation anxiety (P<0.02), and depression (P<0.01). VCFS subjects were achieving significantly less well academically and requiring significantly more special educational assistance than sibling controls. Follow‐up data were available on two subjects, both of whom had been diagnosed with schizophrenia. Further research on psychopathology in VCFS may provide a model of how a specific genetic defect can lead to the development of psychiatric disorders. © 2001 Wiley‐Liss, Inc.
QTL association analysis of the DRD4 exon 3 VNTR polymorphism in a population sample of children screened with a parent rating scale for ADHD symptoms
Authors: Curran Sarah , Mill J. , Sham P. , Rijsdijk F. , Marusic K. , Taylor E. , Asherson P. 
Published: August 2002

AbstractCurrent developments in molecular genetics have led to a rapid increase in research aimed at the identification of genetic variation that influences complex human phenotypes. One phenotype that has aroused a great deal of interest is the behavioral trait hyperactivity and the related clinical disorder attention‐deficit hyperactivity disorder (ADHD). The driving force behind the molecular genetic research in this area is the overwhelming evidence from quantitative genetic studies that show high heritablility (h2 = 0.7–0.9) for the behaviors characterizing the diagnosis of ADHD, whether the disorder is viewed as a categorical entity or a continuous trait. To date, molecular studies have aimed at identifying susceptibility genes for ADHD, defined using operational diagnostic criteria, and have focused on variation within genes that regulate dopamine neurotransmission. Several studies report ADHD to be associated with the 7‐repeat allele of a 48 bp repeat polymorphism (DRD4–7) in exon 3 of the dopamine D4 receptor gene (DRD4). In this study, we take a dimensional perspective of ADHD and examine the relationship of this DRD4 polymorphism in a sample of children selected from the general population on the basis of high and low scores on the five ADHD items of the Strengths and Difficulties Questionnaire (SDQ) as rated by their parents. We found a significant relationship between DRD4–7 and high‐scoring individuals [chi‐square = 8.63; P = 0.003; OR = 2.09 (95% CI 1.24 < OR < 3.54), F‐statistic = 7.245; P = 0.008]. © 2001 Wiley‐Liss, Inc.
Cloning, sequencing, and functional characterization of the vitamin D receptor in vitamin D‐resistant New World primates
Authors: Chun Rene F. , Chen Hong , Boldrick Lorrie , Sweet Connie , Adams John S. 
Published: August 2002

AbstractNew World primates (NWPs) have high circulating 1,25‐dihydroxyvitamin D (1,25‐(OH)2D) levels. Comparable levels would be harmful to Old World primates (OWPs) and humans. Thus, NWPs must have developed mechanisms of 1,25‐(OH)2D resistance to survive. In humans, patients with hypocalcemic vitamin D‐resistant rickets type II have high circulating vitamin D levels and vitamin D resistance due to expression of a dysfunctional vitamin D receptor (VDR). To examine if this could wholly or in part explain vitamin D resistance in NWPs, VDR from Saguinus oedipus (cotton top tamarin) NWP B95‐8 cells was cloned by reverse‐transcription polymerase chain reaction (RT‐PCR). The NWP VDR cDNA sequence showed 96% homology at the DNA level and 98% homology at the amino acid level compared to human VDR. To assay for function, NWP VDR cDNA was transiently transfected into CV‐1 cells with a vitamin D response element reporter plasmid. No difference between OWP and NWP VDR‐directed transactivation was observed. These results indicate that the mechanism of vitamin D resistance in NWPs is not due to a dysfunctional VDR, and is consistent with our hypothesis that vitamin D resistance in NWPs is mediated by overexpression of a VDR‐independent vitamin D response element binding protein. Am. J. Primatol. 54:107–118, 2001. © 2001 Wiley‐Liss, Inc.
Single‐copy nuclear DNA sequences obtained from noninvasively collected primate feces
Authors: Surridge Alison K. , Smith Andrew C. , Buchanan‐Smith Hannah M. , Mundy Nicholas I. 
Published: August 2002

AbstractNoninvasively collected primate feces have been shown to provide a useful source of mitochondrial DNA for sequencing and nuclear microsatellite DNA for size analysis. In this study, single‐copy nuclear DNA sequences were obtained from noninvasively collected fecal samples of two species of wild tamarins, Saguinus fuscicollis and S. mystax, in the context of a project on the functional utility of color vision. Noninvasive genotyping of the X‐linked opsin gene is important for future studies of selection and adaptation at this locus in a number of primate species. The wide range of techniques that can now be applied successfully to DNA extracted from feces introduces a broad spectrum of potential genetic studies that can be undertaken on primates, without the need for intrusive or invasive methods. Am. J. Primatol. 56:185–190, 2002. © 2002 Wiley‐Liss, Inc.
The Upper Paleolithic triple burial of Dolní Věstonice: Pathology and funerary behavior
Authors: Formicola Vincenzo , Pontrandolfi Antonella , Svoboda Jiří 
Published: August 2002

AbstractThis work focuses on paleopathological analysis of one of the skeletons from the Gravettian triple burial of Dolní Věstonice (Moravia) and addresses issues of Upper Paleolithic funerary behavior. The burial includes the well‐preserved skeletons of three young individuals. The skeleton in the middle (DV 15) is pathological and very problematic to sex; the other two (DV 13 and DV 14) are males and lie in an unusual position. The young age, the possibility of a simultaneous interment, and the position of the three specimens have given rise to speculations about the symbolic significance of this spectacular and intriguing funerary pattern. The pathological condition of the skeleton in the middle further emphasizes its peculiarity.Main pathological changes of the DV 15 skeleton include: asymmetric shortening of the right femur and of left forearm bones, bowing of the right femur, right humerus, and left radius, elongation of fibulae, dysplasias of the vertebral column, and very marked enamel hypoplasias. Scrutiny of the medical literature suggests that the most likely etiology is chondrodysplasia calcificans punctata (CCP) complicated by trauma and early fractures of the upper limbs. CCP is a rare inherited disorder characterized by stippled ossification of the epiphyses. The cartilaginous stippling is a transient phenomenon that disappears during infancy, leaving permanent deformities on affected bones. Among the different forms of CCP, the X‐linked dominant form is that resulting in asymmetric shortening and is lethal during early infancy in males. Thus, survival of DV 15 until young adult age would require the specimen to be a female. Clinical findings often associated with the disease (erythemas, ichthyosis, alopecia, cataracts, and joint contractures, among others) would emphasize the singular aspect of this individual, pointing to a condition that should be carefully taken into account when speculating on the significance of that peculiar burial. Am J Phys Anthropol 115:372–379, 2001. © 2001 Wiley‐Liss, Inc.
Dextran reduces embolic signals after carotid endarterectomy
Authors: Levi Christopher R. , Stork Jacinda L. , Chambers Brian R. , Abbott Anne L. , Cameron Heather M. , Peeters Anna , Royle John P. , Roberts Andrew K. , Fell Gary , Hoare Michael C. , Chan Anthony T. W. , Donnan Geoffrey A. 
Published: August 2002

AbstractOne hundred fifty patients undergoing carotid endarterectomy were randomly assigned to receive intravenous 10% dextran 40 or placebo. Transcranial Doppler monitoring of the ipsilateral middle cerebral artery 0 to 1 hour postoperatively detected embolic signals in 57% of placebo and 42% of dextran patients, with overall embolic signal counts 46% less for dextran (p = 0.052). Two to 3 hours postoperatively, embolic signals were present in 45% of placebo and 27% of dextran patients, with embolic signal counts 64% less for dextran (p = 0.040). We conclude that dextran reduces embolic signals within 3 hours of CEA.
Dextran–rare earth ion interactions. II. Solid‐state characteristics
Authors: Zümreoğlu‐Karan B. , Mazi H. , Güner A. 
Published: August 2002

AbstractThe solid‐state characteristics of dextran complexes precipitated from aqueous solutions with three different light‐lanthanoid cations (La3+, Ce3+, and Nd3+) were investigated by spectroscopic and thermal methods. Spectroscopic characterization was realized by the comparative interpretation of the FTIR spectra, and the complexes were found to involve both ligating water and dextran through its O(2) and O(3) atoms. Remarkable spectral changes were noted, particularly with La3+, which parallels the previous solution studies. The order of La3+ > Ce3+ > Nd3+ was determined to display the tendency of the Ln3+ ion in favor of dextran throughout the competition between water and dextran. The thermal stabilities of the complexes were examined by thermogravimetry (TG), differential TG, and DSC methods. The decomposition steps and temperatures were assigned with respect to the lanthanoid ions used. The TG and DSC results indicated that the complexes are less stable thermally than dextran itself with increasing thermal stabilities in the order of La3+ < Ce3+ < Nd3+ in their anhydrous states. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2168–2174, 2002
Thermal analysis of curing process of epoxy prepreg
Authors: Sun Liangfeng , Pang Su‐Seng , Sterling Arthur M. , Negulescu Ioan I. , Stubblefield Michael A. 
Published: August 2002

AbstractThe curing process of epoxy prepreg was studied by means of differential scanning calorimetry analysis. The dynamic, isothermal, and combinations of dynamic and isothermal measurements were done over selected temperature ranges and isothermal cure temperatures. The heats of reaction for dynamic and isothermal cure were determined. The results show that the heat of the isothermal‐cure reaction increased with the increment of temperature. The degree of cure was calculated from the heat of the isothermal‐cure reaction. The complete cure reaction could be achieved at 220°C within a very short cure time. The changes of cure rate with time were given for the studied isothermal cure temperatures. To simulate the relationship between the cure rate and degree of cure, the autocatalytic model was used and the four parameters were calculated. Except in the late stage of the cure reaction, the model agrees well with the experimental data, especially at high temperatures. To account for the effect of diffusion on the cure rate, a diffusion factor was introduced into the model. The modified model greatly improved the predicted data at the late stage of cure reaction. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 1074–1083, 2002
Compatibility studies on polystyrene and poly‐n‐butyl methacrylate
Authors: Somanathan N. , Sanjay A. , Arumugam V. 
Published: August 2002

AbstractPolystyrene (PS) was a solution blended with poly‐n‐butyl methacrylate (PnBMA) at different compositions and the interactions between the two polymers were studied by using viscometry, ultrasound studies, and mechanical properties. All the properties show a characteristic variation in three stages. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2322–2330, 2002
Preparation of hyperbranched polymers by atom transfer radical polymerization
Authors: Bibiao Jiang , Yang Yang , Jian Deng , Shiyang Fu , Rongqi Zhu , Jianjun Hao , Wenyun Wang 
Published: August 2002

AbstractA cheap acrylic AB* monomer, 2‐(2‐chloroacetyloxy)‐isopropyl acrylate (CAIPA), was prepared from 2‐hydroxyisopropyl acrylate with chloroacetyl chloride in the presence of triethylamine. The self‐condensing vinyl polymerization by atom transfer radical polymerization (ATRP), a “living”/controlled radical polymerization, has yielded hyperbranched polymers. All the polymerization products were characterized by proton nuclear magnetic resonance spectroscopy (1H NMR). CAIPA exhibited distinctive polymerization behavior that is similar to a classical step‐growth polymerization in the relationship of molecular weight to polymerization time, especially during the initial stage of the polymerization. However, a significant amount of monomer remained present throughout the polymerization, which is consistent with typical chain polymerization. Also, if a much longer polymerization time was used, the polymer became gel. As a result of the unequal reactivity of group A* and B*, the polymerization is different from an ideal self‐condensing vinyl polymerization: the branch structures of polymers prepared depend dramatically on the ratio of 2,2'‐bipyridyl to CAIPA. Hyperbranched polymers exhibit improved solubility in organic solvent, however, they have lower thermal stability than their linear analogs. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2114–2123, 2002
Mechanical properties of wood flake–polyethylene composites. II. Interface modification
Authors: Balasuriya P. W. , Ye L. , Mai Y.‐W. , Wu J. 
Published: August 2002

AbstractThis article discusses the methods of interface modification of composites based on raw wood flakes and high‐density polyethylene (HDPE) and the effects of these modifications on composite properties. An HDPE matrix was modified by a reaction with maleic anhydride (MA) in a twin‐screw extruder and then compounded with wood flakes to produce wood–polyethylene composites. Wood flakes were modified by a reaction with a silane coupling agent in an aqueous medium before being compounded with HDPE to produce silane‐modified WPCs. Differential scanning calorimetry and Fourier transform infrared spectroscopy data provide evidence for the existence of a polyethylene (PE)–silane‐grafted wood structure, which acts as a compatibilizer for wood flakes and PE. The results of MA‐modified composites indicate that some maleated HDPE is reacting with wood through esterification to form a compatibilizer for wood flakes and HDPE. Significant improvements in tensile strength, ductility, and Izod impact strength were obtained. Scanning electron micrographs provide evidence for strong interactions between the wood flakes and the matrix agent. The results indicate that 1–2 wt % MA modification on HDPE and 1–3 wt % silane treatment on wood flakes provide WPCs with the optimum properties. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2505–2521, 2002
DSC study on simultaneous interpenetrating polymer network formation of epoxy resin and unsaturated polyester
Authors: Ivanković M. , Džodan N. , Brnardić I. , Mencer H. J. 
Published: August 2002

AbstractA kinetic study on simultaneous interpenetrating polymer network formation of epoxy resin based on diglycidyl ether of Bisphenol A (DGEBA) and unsaturated polyester (UP) was performed by means of differential scanning calorimetry (DSC). Isothermal DSC characterizations of neat resins and their mixture (in a weight ratio of 50/50) were performed at different temperatures. Dynamic DSC characterization of the systems were performed at three different heating rates. A lower total heat of reaction developed during simultaneous polymerization in dynamic DSC tests was found, compared to the total heats developed during pure resins network formation. This phenomenon can be interpreted as an effect of network interlock that could not be compensated for completely by an increase in curing temperature. The kinetics of the reactions was described by empirical models. The DGEBA, in a 50/50 UP/DGEBA blend, indicated a higher rate constant than the pure DGEBA. The obtained results suggests that the hydroxyl end group of UP in the blend provided a favorably catalytic environment for the DGEBA cure. The results are in good agreement with the literature data. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2689–2698, 2002