bluuebunny/crossref_metadata_2025_split huggingface dataset:
Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation
Authors: Morales Carme , Soler Anna , Margarit Ester , Madrigal Irene , Sánchez Aurora 
Published: September 2007

AbstractSupernumerary marker chromosomes (SMCs) have a reported frequency in the prenatal and newborn population ranging from 0.04% to 0.08% and about 37% of diagnosed SMCs are associated with an abnormal phenotype. Around 7.5% of them are derived from chromosome 22. SMCs(22) that result in tri‐ or tetrasomy of band 22q11.2 are associated with Cat‐eye syndrome (CES), a syndrome of variable penetrance and affectation. CES‐like phenotype has been also related to 22q11.2 interstitial duplications and der(22) syndrome. The 22q11.2 region, also involved in the velocardiofacial microdeletional syndrome, presents high susceptibility to chromosomal rearrangements due to the presence of low‐copy repeats sequences (LCR22). Another region in the genome rich in LCR is 17p and five recurrent disorders have been mapped on the region 17p11‐p13. Some chromosomal imbalances affecting the 17p13.3 subtelomeric region have been reported, related to cryptic unbalanced translocations and associated, in most cases, to mental retardation and dysmorphic features. We report on a healthy male carrier of a SMC that was identified as a +der(22)t(17;22)(p13.3;q11.2) consequence of an abnormal 3:1 segregation of the paternal t(17;22) and we have determined the approximate size of the trisomic regions, comparing the obtained results with other reported imbalances involving 22q11.2 and 17pter. © 2007 Wiley‐Liss, Inc.
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations
Authors: Suri Mohnish , Kelehan Peter , O'Neill David , Vadeyar Shantala , Grant Judith , Ahmed S. Faisal , Tolmie John , McCann Emma , Lam Wayne , Smith Shirley , FitzPatrick David , Hastie Nicholas D. , Reardon William 
Published: September 2007

AbstractMeacham syndrome is a rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. We report on eight new cases of this condition, two of whom were shown to have heterozygous missense mutations in the C‐terminal zinc finger domains of WT1: Arg366Cys and Arg394Trp. These data represent clinical and molecular evidence that the WT1 gene plays a central role in normal development of the diaphragm and the proepicardially derived tissues. Identification of WT1 expression in the region of coelomic mesothelium which will form the proepicardium and diaphragm provides a plausible unifying patterning defect in these cases. Interestingly, the Arg366Cys mutation has been previously reported in Denys–Drash syndrome and Arg394Trp mutation has been previously reported in both isolated Wilms tumor and Denys–Drash syndrome. This phenotypic diversity with a single mutation suggests there are other factors modulating all aspects of WT1 function during human development. If genetic modifiers of WT1 can be identified in animal models these become good candidate genes for the cases with Meacham syndrome we report on here where WT1 mutations cannot be identified. © 2007 Wiley‐Liss, Inc.
Craniofacioskeletal syndrome: An X‐linked dominant disorder with early lethality in males
Authors: Stevenson Roger E. , Brasington Cam K. , Skinner Cindy , Simensen Richard J. , Spence J. Edward , Kesler Shelli , Reiss Allan L. , Schwartz Charles E. 
Published: September 2007

AbstractA syndrome with multisystem manifestations has been observed in three generations of a Caucasian family. The findings in seven females provide a composite clinical picture of microcephaly, short stature, small retroverted ears, full tip of the nose overhanging the columella, short philtrum, thin upper lip, soft tissue excrescences at the angle of the mouth, small mandible, small hands and feet with brachydactyly, finger V clinodactyly, flat feet, an excessive number of fingerprint arches, and mild impairment of cognitive function. Two males were more severely affected and died in the initial months of life. They showed intrauterine growth retardation, broad cranium with wide sutures and fontanelles, cardiac defects, small hands and feet with abnormal digital creases and small nails, and genital abnormalities. The affected males had low serum calcium in the neonatal period. Serum calcium, phosphorous, and parathormone levels in the females were normal. Radiographs showed cortical thickening of the long bones, underdevelopment of the frontal sinuses, narrow pelvis and hypoplasia of the middle phalanx of finger five. MRI of the brain showed slightly reduced brain volumes and an extra gyrus of the superior temporal region. X‐inactivation studies showed near complete skewing in two affected females, but were not informative in three others. X‐linkage as the mode of inheritance is proposed on the basis of different severity in males/females, complete skewing of X‐inactivation in informative females, and a lod score (1.5) suggestive of linkage to markers in Xq26‐q27. © 2007 Wiley‐Liss, Inc.
Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
Authors: Tsai Anne Chun‐Hui , Morel Chantal F. , Scharer Gunter , Yang Michael , Lerner‐Ellis Jordan P. , Rosenblatt David S. , Thomas Janet A. 
Published: September 2007

AbstractWe report on the case of a 36‐year‐old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC. Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed. © 2007 Wiley‐Liss, Inc.
A boy with severe craniodiaphyseal dysplasia and apparently normal mother
Authors: Bieganski Tadeusz , Baranska Dobromila , Miastkowska Irmina , Kobielski Artur , Gorska‐Chrzastek Magdalena , Kozlowski Kazimierz 
Published: September 2007

AbstractWe describe a boy and his mother affected with craniodiaphyseal dysplasia (CDD). The boy had a very severe form of the disease with extensive osteosclerosis already at birth. Facial diplegia, bilateral hearing loss and optic nerve atrophy were early, severe complications of the disease. At age 7 years progressive genu valgum and unusual epimetaphyseal radiographic appearances suggested hyperparathyroidism. This was confirmed by biochemical tests. Because of some facial similarity between the asymptomatic mother and the propositus, a limited skeletal survey of the mother was performed. It demonstrated cranial osteosclerosis and hyperostosis. It is possible that the mother has somatic mosaicism for a mutation of the genes causing CDD. © 2007 Wiley‐Liss, Inc.
Conorenal dysplasia: A syndrome of cone‐shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur
Authors: Beals Rodney K. , Weleber Richard G. 
Published: September 2007

AbstractConorenal dysplasia is a rare sydrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases. © 2007 Wiley‐Liss, Inc.
Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies
Authors: Shearer Brandon M. , Thorland Erik C. , Gonzales Patrick R. , Ketterling Rhett P. 
Published: September 2007

AbstractMicroarray‐based comparative genomic hybridization (aCGH) allows for simultaneous high‐resolution analysis of multiple genomic loci. Recently, focused aCGH platforms have emerged allowing for analysis of numerous clinically relevant chromosome loci. The purpose of our study was to evaluate the Spectral Genomics Constitutional Chip™ 1.0 (CC) for use in the clinical laboratory. The CC consisted of 429 BAC clones for 41 known genetic deletion/duplication syndromes, subtelomeric regions, and chromosomal backbone clones. We conducted a blinded study of 48 samples including 46 patients (one sample was run in triplicate) with previously determined constitutional chromosome anomalies and two negative controls. Patient samples included 31 microdeletions, four duplications, three derivative chromosomes, three trisomies, and five sex chromosome aneuploidies. Our results show that the CC identified the expected gains and/or losses in 46 of 48 samples. The two negative controls were considered to be normal and the three replicates of the same patient sample were concordant. Two samples yielded false‐negative results; however, repeat analysis produced acceptable results for one of them. One sample ultimately had an insufficient amount of DNA precluding aCGH analysis. While promising, the results suggest that further studies are needed to reduce protocol variability and to establish standard analysis and interpretation criteria. Further, this study verifies the importance of extensive validation studies prior to clinical implementation of new clinically available methodologies. © 2007 Wiley‐Liss, Inc.
An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub‐bands of gene paucity and pervasive CNV characterize the chromosome anomalies
Authors: Daniel Art , Darmanian Artur , Peters Greg , Goodwin Linda , Hort Jason R. 
Published: September 2007

AbstractA boy with autistic spectrum disorder without dysmorphisms was found to have a chromosome duplication of part of band 13q21. His mother and grandfather both of normal intellect had the same chromosomal duplication. Comparison was made with the Chromosome anomaly database www.som.soton.ac.uk/research/geneticsdiv/anomaly%20register which revealed similar cases. Mapping on DNA microarray for the proband and mother showed the duplication to be of length 11.2 Mb, encompassing the 13q21.1–13q21.32 region. The duplicated region is profoundly gene poor, with a mean gene density of 0.45 genes/Mb. We estimate, that the mean gene density in the sub‐bands of the chromosome anomalies is 2.4–2.5 genes/Mb. In addition the percentages of the sub‐bands reported as copy number variants (CNV) was estimated from the Database of Chromosome Genomic Variants (http://projects.tcag.ca/variation/). It was found that for some of these sub‐bands, gene paucity was likely to be a major contributor to their innocuous phenotypic effect, for example, the gene densities were for: 1p31.2 (1.25 genes/Mb); 2p12 (1.7); 4p15.31 (1.3); 5p14.1 (0.22); 5p14.3 (0.8); 5q21.2 (0.6); 5q21.3 (1.2); 8p23.2 (0.25); 13q21.1 (0.9); 14q31.1 (1.4); 18q22.1 (1.4); 21q21.1 (1.2); and 21q21.2 (0.7). For other sub‐bands the percentage of the band in which CNV have been reported was found to be markedly increased, for example, 8p23.2 (94.7% of the band is defined by reported CNV); 3p26.3 (81.6); 5p14.3 (59.3); 8p22 (48.8); 2p12 (44.0); 5q21.1 (43.6); 6q24.2 (41.4); 9p23 (38.8); 10q21.1 (36.5); 5q21.2 (35.4), and 11q14.3 (33.8). We argue that both gene paucity and pervasive CNV are major indicators of bands conforming to the Chromosome Anomaly phenomenon. © 2007 Wiley‐Liss, Inc.
Executive function and genetic predisposition to schizophrenia—the Maudsley family study
Authors: Birkett P. , Sigmundsson T. , Sharma T. , Toulopoulou T. , Griffiths T.D. , Reveley A. , Murray R. 
Published: September 2007

AbstractExecutive cognitive impairment has been found in families affected by schizophrenia and is a putative endophenotype. We wished to explore its genetic basis further by studying the association between impairment and genetic loading for schizophrenia. We studied 30 schizophrenia patients with a family history of schizophrenia, 53 of their nonpsychotic first‐degree relatives (familial), 32 patients with schizophrenia but no known family history of psychosis, 52 of their first‐degree relatives (nonfamilial), and 47 normal controls. They were tested using the National Adult Reading Test (NART), Trails A and B, Verbal fluency tasks, and a computerized version of the Wisconsin Card Sorting Test (WCST). Familial, but not nonfamilial, relatives were impaired on NART, letter fluency, Trails B, and WCST total errors. They were inferior to nonfamilial relatives on letter fluency and Trails A. Both sets of relatives were impaired on Trails B controlling for Trails A, and on WCST categories achieved. There were no significant differences between schizophrenia patients with and without a family history. Our results suggest that executive deficits qualitatively similar to those seen in those with schizophrenia reflect familial susceptibility, even taking early IQ and education into consideration, consistent with a genetic mechanism. © 2007 Wiley‐Liss, Inc.
Colorless polyimide nanocomposite films: Thermomechanical properties, morphology, and optical transparency
Authors: Jin Hyo‐Seong , Chang Jin‐Hae 
Published: September 2007

AbstractPolyimide (PI)/organoclay hybrid films were prepared by the solution intercalation method, using dodecyltriphenylphosphonium‐mica (C12PPh‐Mica) as the organoclay. The variations with organoclay content of the thermomechanical properties, morphology, and optical transparency of the hybrids were examined for concentrations from 0 to 1.0 wt %. For low clay contents (≤ 0.5 wt %), the clay particles are better dispersed in the matrix polymer, without the formation of large agglomerates of particles, than they are for high clay contents. However, agglomerated structures form and become denser in the PI matrix for clay contents ≥ 0.75 wt %. This is in agreement with the observed trends in the thermomechanical properties and the optical transparency, which worsen drastically when the clay content of the C12PPh‐Mica/PI hybrids reaches 0.75 wt %. However, when the amount of organoclay in the hybrid is 0.75 wt %, the initial modulus of the hybrid film is at its maximum value. The PI hybrid films were found to exhibit excellent optical transparencies and to be almost colorless. It was found, however, that the transparency decreases slightly with increases in the organoclay content because of agglomeration of the clay particles. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Restraining the associations of anthracene fluorophore by chemically linking to poly(methyl methacrylate)
Authors: Su Fu‐Kun , Hong Jin‐Long , Lin Lieh‐Li 
Published: September 2007

AbstractAssociations (dimer or aggregate) of anthracene (An) fluorophores tend to interrupt the monomer emission and reduce the quantum yield (ΦPL); therefore, poly(methyl methacrylate) (PMMA) chain was used in this study to chemically link to anthracene and to block the mutual associations among the anthracene fluorophores. With this aim, the target polymers were prepared by anionic polymerizations with 9,10‐dibromoanthracene/s‐butyllithium as initiating system to proceed polymerizations of methyl methacrylate (MMA) directly or in the presence of 1,1‐diphenylethylene (DPE). Use of DPE before addition of MMA produces stable initiating anionic species and avoids potential side reactions during polymerization; however, it also introduces four β‐phenylene rings around the central anthracene ring, which interfere with the corresponding emission pattern and reduce the ΦPL (32%) value due to potential interactions between phenylene rings and anthracene. On the contrast, polymerization without participation of DPE results in polymer with central anthracene ring directly connected to two PMMA chains, which gives clean vibronic emission pattern with limited association emissions and enhanced ΦPL (52%) value. Physical blending of anthracene by PMMA is less efficient to restrain the associations and results in a film of lower ΦPL (20%). © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Amphiphilic styrene–butadiene–styrene triblock copolymer grafted with polyoxyethylene
Authors: Xie Hong‐Quan , Zhao Wei , Xie Dong 
Published: September 2007

AbstractA styrene–butadiene–styrene triblock copolymer (SBS) was grafted with polyoxyethylene via a ring‐opening reaction of an epoxidized styrene–butadiene– styrene triblock copolymer (ESBS) with monocarboxylic‐group‐terminated methoxypoly(ethylene glycol) (CMPEG). The latter was prepared through the esterification of methoxypoly(ethylene glycol) with maleic anhydride. The optimum conditions for the preparation of the graft copolymer were studied. The graft copolymer was characterized with Fourier transform infrared spectrophotometry. Its water absorbency, oil absorbency, emulsifying property, phase‐transfer catalysis property in the Williamson solid–liquid reaction, and use as a compatibilizer in the blending of SBS with oil‐resistant chlorohydrin rubber (CHR) were also studied. The optimum conditions were a CMPEG/epoxy group molar ratio of 1.5, an N,N‐dimethyl aniline/ESBS concentration of 5 wt %, and an ESBS concentration of 12–14 g/100 mL at 75–80°C for 10 h. The polyoxyethylene content could reach 0.27 mmol/g. The graft copolymer absorbed a certain amount of water, fairly resisted kerosene, and possessed good emulsifying and phase‐transfer catalysis properties, both of which were enhanced with increasing polyoxyethylene graft content. The graft copolymer could be used as a compatibilizer for a blend of SBS and CHR. A 3 wt % concentration of the graft copolymer based on a 50/50 blend could increase both the tensile strength and ultimate elongation of the blend about 1.7 times. The blend behaved like an oil‐resistant thermoplastic elastomer. Scanning electron microscopy demonstrated the improved compatibility of the two components by the graft copolymer. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Processability modifications of poly(3‐hydroxybutyrate) by plasticizing, blending, and stabilizing
Authors: Wang Liang , Zhu Wenfu , Wang Xiaojuan , Chen Xianyu , Chen Guo‐Qiang , Xu Kaitian 
Published: September 2007

AbstractPoly(3‐hydroxybutyrate) (PHB) was plasticized with dioctyl (o‐)phthalate, dioctyl sebacate, and acetyl tributyl citrate (ATBC). The thermal properties, mechanical properties, and melt flow ability were studied with differential scanning calorimetry, thermogravimetric analysis, a universal material testing machine, and a melt flow indexer. ATBC was revealed to be an efficient plasticizer, reducing the glass‐transition temperature and increasing the thermoplasticization ability of PHB. We also blended poly(3‐hydroxybutyrate‐co‐hydroxyhexanoate) (PHBHHx) and poly(3‐hydroxybutyrate‐co‐4‐hydroxybutyrate) [P(3/4HB)] with PHB, ATBC, and antioxidant 1010 to overcome the brittleness of PHB and improve the melt flow stability of the materials. PHBHHx did little to improve the thermal processing but increased the fluidity of PHB, and P(3/4HB) toned the toughness of PHB. The addition of antioxidant 1010 enhanced the thermal stabilization of PHB. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Evaluation of the light polymerization efficiency of copolymers used in dental formulations by differential scanning calorimetry
Authors: Rigoli Isabel C. , Riga Alan T. , Cavalheiro Carla C. S. , Neumann Miguel G. , Cavalheiro Éder T. G. 
Published: September 2007

AbstractDifferent compositions of visible‐light‐curable triethylene glycol dimethacrylate/bisglycidyl methacrylate copolymers used in dental resin formulations were prepared through copolymerization photoinitiated by a camphorquinone/ethyl 4‐dimethylaminobenzoate system irradiated with an Ultrablue IS light‐emitting diode. The obtained copolymers were evaluated with differential scanning calorimetry. From the data for the heat of polymerization, before and after light exposure, obtained from exothermic differential scanning calorimetry curves, the light polymerization efficiency or degree of conversion of double bonds was calculated. The glass‐transition temperature also was determined before and after photopolymerization. After the photopolymerization, the glass‐transition temperature was not well defined because of the breadth of the transition region associated with the properties of the photocured dimethacrylate. The glass‐transition temperature after photopolymerization was determined experimentally and compared with the values determined with the Fox equation. In all mixtures, the experimental value was lower than the calculated value. Scanning electron microscopy was used to analyze the morphological differences in the prepared copolymer structures. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Utilization of bowstring hemp fiber as a filler in natural rubber compounds
Authors: Osabohien E. , Egboh S. H. O. 
Published: September 2007

AbstractThe cure characteristics and physicomechanical properties of natural rubber (standard Nigerian rubber) vulcanizates filled with the fiber of bowstring hemp (Sansevieria liberica) and carbon black were investigated. The results showed that the scorch and cure times decreased, whereas the maximum torques increased, with increasing filler loadings for both bowstring hemp fiber and carbon black filled vulcanizates. The tensile strength of both bowstring hemp fiber and carbon black filled vulcanizates increased to a maximum at a 40 phr filler concentration before decreasing. The elongation at break and rebound resilience decreased, whereas the modulus, specific gravity, abrasion resistance, and hardness increased, with increasing filler contents. The carbon black/natural rubber vulcanizates had higher tensile strength, which was about 1.5 times that of bowstring hemp fiber/natural rubber vulcanizates. This superiority in the tensile strength was probably due to the higher moisture content and larger particle size of the bowstring hemp fiber. However, the bowstring hemp fiber/natural rubber vulcanizates showed superior hardness. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008