bluuebunny/crossref_metadata_2025_split huggingface dataset:
GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome
Authors: Sakazume Satoru , Okamoto Nobuhiko , Yamamoto Toshiyuki , Kurosawa Kenji , Numabe Hironao , Ohashi Yuko , Kako Yuko , Nagai Toshiro , Ohashi Hirohumi 
Published: June 2007

AbstractWe analyzed mutations of the GPC3gene in seven males with typical manifestations of Simpson–Golabi–Behmel syndrome (SGBS). Genomic DNA was PCR amplified for its all eight exons and exon–intron boundaries using designed set of primers, and PCR products were directly sequenced. All seven males studied had mutations: One patient had a large deletion spanning introns 6 and 7, four each had a C → T base substitution resulting in a stop codon formation in exons 2, 3, and 4, one had a single‐base insertion in exon 2, and the other had a six‐base deletion and a three‐base insertion in exon 3; all resulting in loss‐of‐function of the glypican‐3 protein. These results, together with previous studies of GPC3 mutations, indicate that there is no hot spot for GPC3 mutations or deletions in the patients with the syndrome. Also, no correlation has been noted between the location and nature of mutations and the phenotype of the patients studied, as is the case of the present study. © 2007 Wiley‐Liss, Inc.
Recurrence risk in de novo structural chromosomal rearrangements
Authors: Röthlisberger Benno , Kotzot Dieter 
Published: June 2007

AbstractAccording to the textbook of Gardner and Sutherland [2004], the standard on genetic counseling for chromosome abnormalities, the recurrence risk of de novo structural or combined structural and numeric chromosome rearrangements is less than 0.5–2% and takes into account recurrence by chance, gonadal mosaicism, and somatic‐gonadal mosaicism. However, these figures are roughly estimated and neither any systematic study nor exact or evidence‐based risk calculations are available. To address this question, an extensive literature search was performed and surprisingly only 29 case reports of recurrence of de novo structural or combined structural and numeric chromosomal rearrangements were found. Thirteen of them were with a trisomy 21 due to an i(21q) replacing one normal chromosome 21. In eight of them low‐level mosaicism in one of the parents was found either in fibroblasts or in blood or in both. As a consequence of the low number of cases and theoretical considerations (clinical consequences, mechanisms of formation, etc.), the recurrence risk should be reduced to less than 1% for a de novo i(21q) and to even less than 0.3% for all other de novo structural or combined structural and numeric chromosomal rearrangements. As the latter is lower than the commonly accepted risk of approximately 0.3% for indicating an invasive prenatal diagnosis and as the risk of abortion of a healthy fetus after chorionic villous sampling or amniocentesis is higher than approximately 0.5%, invasive prenatal investigation in most cases is not indicated and should only be performed if explicitly asked by the parents subsequent to appropriate genetic counseling. © 2007 Wiley‐Liss, Inc.
Meckel syndrome in the Hutterite population is actually a Joubert‐related cerebello‐oculo‐renal syndrome
Authors: Boycott Kym M. , Parboosingh Jillian S. , Scott James N. , McLeod D. Ross , Greenberg Cheryl R. , Fujiwara T. Mary , Mah Jean K. , Midgley Julian , Wade Andrew , Bernier Francois P. , Chodirker Bernard N. , Bunge Martin , Innes A. Micheil 
Published: June 2007

AbstractMeckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)‐related disorders (JSRDs) or cerebello‐oculo‐renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. A significant clinical overlap between MKS and JSRD/CORS has been recognized in the literature. We describe a group of 10 Hutterite patients, of which 7 had been previously diagnosed with MKS, with a JSRD. Clinical features include variable early mortality, cognitive handicap, a characteristic dysmorphic facial appearance, hypotonia, ataxia, abnormal breathing pattern, nystagmus, and MTS on MRI. Additional features include occipital encephalocele, posterior fossa fluid collections resembling Dandy–Walker malformation, hydrocephalus, coloboma, and renal disease. This JSRD is a recognizable dysmorphic syndrome characterized by hypertelorism, deep‐set eyes, down‐slanting palpebral fissures, ptosis, arched eyebrows with medial sparseness, square nasal tip, short philtrum with tented upper lip, open mouth with down‐turned corners, and posteriorly rotated low‐set ears. Renal disease is present in 70% of patients and is characterized by cystic kidneys, abnormalities in renal function and hypertension. Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity‐by‐descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD. © 2007 Wiley‐Liss, Inc.
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism
Authors: Hsu Hui‐Fang , Hou Jia‐Woei 
Published: June 2007

AbstractPatau syndrome (trisomy 13) is very rare in live‐born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live‐born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non‐cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of non‐mosaic trisomy 13 in Taiwan. We thus suggest that long‐term survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses. © 2007 Wiley‐Liss, Inc.
Core content and stability of n‐octadecane‐containing polyurea microencapsules produced by interfacial polymerization
Authors: Siddhan Periyasamy , Jassal Manjeet , Agrawal Ashwini K. 
Published: June 2007

AbstractMicroencapsulation of phase change material (PCM) n‐octadecane was carried out by interfacial polymerization technique using core and bulk monomers as toluene‐2,4‐diisocyanate (TDI) and diethylene triamine (DETA), respectively. Cyclohexane was used as the solvent for TDI and n‐octadecane, which formed the oil phase. The effect of encapsulation procedure, core‐to‐monomer ratio (CM ratio) and PCM‐to‐cyclohexane (PC) ratio was investigated on core content, encapsulation efficiency, and stability of microcapsules. Using a modified procedure, the core content was found to increase with the increasing CM ratio and reached a maximum at 3.7, while the encapsulation efficiency continuously decreased with the increasing CM ratio. Also the encapsulation efficiency was found to have a strong dependence on PC ratio and a maximum encapsulation efficiency of 92%, along with the core content of 70% was obtained with CM ratio of 3.7 along with the PC ratio of 6. The microcapsules were well shaped, i.e., round and regular, with narrow size distribution at these conditions. The PCM microcapsules were found to be stable to heat treatment at 150°C for 8 h. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2007
Mechanical properties of polyurethane/montmorillonite nanocomposite prepared by melt mixing
Authors: Chun Byoung Chul , Cho Tae Keun , Chong Mi Hwa , Chung Yong‐Chan , Chen Jihua , Martin David , Cieslinski Robert C. 
Published: June 2007

AbstractNanocomposites from polyurethane (PU) and montmorillonite (MMT) were prepared under melt‐mixing condition, by a twin screw extruder along with a compatibilizer to enhance dispersion of MMT. MMT used in this study was Cloisite 25A (modified with dimethyl hydrogenated tallow 2‐ethylhexyl ammonium) or Cloisite 30B (modified with methyl tallow bis‐2‐hydroxyethyl ammonium). Maleic anhydride grafted polypropylene (MAPP) was used as the compatibilizer. XRD and TEM analysis demonstrated that melt mixing by a twin‐screw extruder was effective in dispersing MMT through the PU matrix. The PU/Cloisite 30B composite exhibited better interlayer separation than the PU/Cloiste 25A composite. Nanoparticle dispersion was the best at 1 wt % of MMT and improved with compatibilizer content for both composites. Properties of the composites such as complex viscosity and storage modulus were higher than that of a pure PU matrix and increased with the increase in MMT content, but decreased with the increase in compatibilizer content. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 2007
Predominance of CD8+ T lymphocytes among periglomerular infiltrating cells and link to the prognosis of class III and class IV lupus nephritis
Authors: Couzi Lionel , Merville Pierre , Deminière Colette , Moreau Jean‐François , Combe Christian , Pellegrin Jean‐Luc , Viallard Jean‐François , Blanco Patrick 
Published: June 2007

AbstractObjectiveRecent studies have revealed a potential implication of CD8+ T lymphocytes in the pathogenesis of systemic lupus erythematosus (SLE) through their ability to induce tissue damage. The aim of the present study was to analyze the localization of CD8+ cells in the kidneys of patients with class III and class IV lupus nephritis and to establish correlations with histologic, biologic, and clinical features of SLE.MethodsTwenty‐five consecutive SLE patients with class III or class IV lupus nephritis were enrolled. Phenotype analyses of blood lymphocytes and renal immunohistochemistry studies were performed.ResultsCD8+ T cells were the predominant kidney‐infiltrating subset of cells. The mean ± SD numbers of CD8+ T cells and CD4+ T cells were 66.2 ± 65.2/mm2 and 19.3 ± 29.4/mm2, respectively. There was a significant correlation between the percentage of blood CD3+,CD8+,DR+ cells and the total number of renal CD8+ T cells (r = 0.42, P = 0.039). Renal CD8+ T cell infiltration correlated well with the renal activity index (r = 0.63, P = 0.0007) and with high serum creatinine levels (r = 0.75, P = 0.0001). This CD8+ T cell infiltrate, which was predominantly in the periglomerular area, was correlated with cellular crescents and Bowman's capsule rupture and was associated with a poor response after conventional induction therapy.ConclusionCD8+ T lymphocytes infiltrate the periglomerular area in patients with severe (class III and class IV) lupus nephritis and are linked to a poor outcome after induction therapy. These results reveal a new potential effector pathway operant in lupus nephritis.
Sjögren's syndrome disease damage index and disease activity index: Scoring systems for the assessment of disease damage and disease activity in Sjögren's syndrome, derived from an analysis of a cohort of Italian patients
Authors: Vitali Claudio , Palombi Gianluigi , Baldini Chiara , Benucci Maurizio , Bombardieri Stefano , Covelli Michele , Del Papa Nicoletta , De Vita Salvatore , Epis Oscar , Franceschini Franco , Gerli Roberto , Govoni Marcello , Bongi Susanna Maddali , Maglione Wanda , Migliaresi Sergio , Montecucco Carlomaurizio , Orefice Maddalena , Priori Roberta , Tavoni Antonio , Valesini Guido 
Published: June 2007

AbstractObjectiveTo develop valid instruments for the assessment of disease‐related damage and disease activity in Sjögren's syndrome (SS).MethodsData on 206 patients with primary SS were collected in 12 Italian centers. Each patient was scored by 1 investigator, on the basis of a global assessment of the degree of disease damage and disease activity. Patients judged to have active disease at the time of enrollment underwent a second evaluation after 3 months. Univariate and multivariate analyses were performed to select the clinical and serologic variables that were the best predictors of damage and of disease activity, and these variables were used to construct the Sjögren's Syndrome Disease Damage Index (SSDDI) and the Sjögren's Syndrome Disease Activity Index (SSDAI). The weight of each variable in the index was determined by the β coefficients in multivariate regression models. Scores obtained using the SSDDI and the SSDAI were compared with scores initially given by the investigators. Finally, a receiver operating characteristic (ROC) curve was used to determine the cutoff value in the SSDAI with the highest level of accuracy in identifying patients with a significant level of disease activity.ResultsA multivariate model with 9 variables was the best predictor of investigator scores of damage. The scores obtained using the SSDDI were closely correlated with investigator ratings (R = 0.760, P < 0.0001). A model composed of 11 variables was the best predictor of investigator scores of disease activity. The scores obtained using the SSDAI were strongly correlated with the investigator ratings both at the time of enrollment and 3 months after enrollment (R = 0.872, P < 0.0001, and R = 0.817, P < 0.0001, respectively). The differences between scores given by investigators at study enrollment and after 3 months, a measure of variation of disease activity over time, were also closely correlated with the differences calculated using the SSDAI (R = 0.683, P < 0.0001). The ROC curve analysis showed that patients with the highest level of disease activity could be identified on the basis of an SSDAI score of ≥5.ConclusionOur findings indicate that the SSDDI is an adequate instrument to objectively measure damage in patients with SS, and that the SSDAI is a valid tool to measure disease activity when used either as a single‐state index or as a transition index.
Impairment of the antifibrotic effect of hepatocyte growth factor in lung fibroblasts from African Americans: Possible role in systemic sclerosis
Authors: Bogatkevich Galina S. , Ludwicka‐Bradley Anna , Highland Kristin B. , Hant Faye , Nietert Paul J. , Singleton C. Beth , Feghali‐Bostwick Carol A. , Silver Richard M. 
Published: June 2007

AbstractObjectiveTo compare the composition of cytokines in African American and Caucasian patients with systemic sclerosis (SSc; scleroderma) and in healthy individuals, particularly the expression and function of hepatocyte growth factor (HGF).MethodsBronchoalveolar lavage (BAL) fluid samples were analyzed using cytokine array techniques. HGF in plasma and cell culture medium samples was measured by enzyme‐linked immunosorbent assay. Connective tissue growth factor (CTGF), type I collagen expression, and c‐Met receptor phosphorylation were studied by immunoblotting.ResultsOverall greater expression of cytokines in BAL fluid from African American patients as compared with Caucasian patients was observed. Significant increases in HGF concentrations were detected in BAL fluid, plasma, and fibroblast culture medium from Caucasian SSc patients. In contrast, African American SSc patients did not demonstrate an increase in HGF. Recombinant HGF readily abolished CTGF expression and collagen accumulation in lung fibroblasts isolated from Caucasian SSc patients. Pretreatment of lung fibroblasts with neutralizing anti–c‐Met antibody abolished the effects of HGF on CTGF expression and collagen accumulation, suggesting that the antifibrotic activity of HGF is mediated via c‐Met receptor tyrosine kinase. Whereas recombinant HGF rapidly induced c‐Met receptor phosphorylation in lung fibroblasts from Caucasian patients, c‐Met receptor phosphorylation was significantly reduced in lung fibroblasts from African American subjects. Moreover, recombinant HGF failed to prevent CTGF expression and collagen accumulation in lung fibroblasts derived from African American subjects.ConclusionEthnic differences exist in terms of antifibrotic HGF expression in lung fibroblasts derived from Caucasian and African American subjects. Reduced levels of HGF as well as a deficiency in c‐Met receptor function appear to be present in African American patients with SSc. These findings may explain in part the greater disease severity and worse prognosis observed in African Americans with SSc.
Association between serum vitamin D metabolite levels and disease activity in patients with early inflammatory polyarthritis
Authors: Patel Sanjeev , Farragher Tracey , Berry Jacqueline , Bunn Diane , Silman Alan , Symmons Deborah 
Published: June 2007

AbstractObjectivePrevious in vitro and animal studies have suggested that vitamin D, in particular, its metabolite 25‐hydroxyvitamin D (25[OH]D), may have immunomodulatory effects. To study further the potential immunomodulatory effects of vitamin D in humans, we explored the hypothesis that serum vitamin D metabolites may be inversely associated with current disease activity, severity, and functional disability in patients with early inflammatory polyarthritis (IP).MethodsWe studied 206 consecutive patients with IP who were enrolled in the Norfolk Arthritis Register between January 2000 and November 2003 inclusive. Patients were studied within 6 months of symptom onset. None of the patients was taking steroids, and all had received <6 weeks of disease‐modifying therapy. Associations between serum levels of 25(OH)D and 1,25‐dihydroxyvitamin D (1,25[OH]2D) at baseline and the swollen and tender joint counts, Health Assessment Questionnaire (HAQ) scores, C‐reactive protein (CRP) levels, and the Disease Activity Score 28‐joint assessment (DAS28) scores at baseline and 1 year were assessed.ResultsThe median age at symptom onset was 59 years (range 20–88 years), with a median disease duration of 4 months. At baseline, there was an inverse relationship between 25(OH)D levels and the tender joint count, DAS28 score, and HAQ score. The only inverse relationship with 1,25(OH)2D was with the HAQ score. Each 10‐ng/ml increase in the level of 25(OH)D was associated with a decrease in the DAS28 score of 0.3 and in the CRP level of ∼25%. At 1 year, the only significant result was an inverse association between baseline vitamin D metabolite levels and the HAQ score; that is, those with higher metabolite levels had lower HAQ scores.ConclusionThese data provide further support that vitamin D plays an immunomodulatory role in inflammatory arthritis. This association needs to be examined in other cohorts of patients with early IP, as well as in longitudinal studies. If confirmed, the clinical response to vitamin D supplementation should be examined in early IP.
National publication and citation comparisons
Authors: Narin Francis , Carpenter Mark P. 
Published: June 2007

AbstractIndicators of national scientific activity have been derived from counts of 500,000 publications, and millions of citations, in 492 large and heavily cited scientific journals in seven major disciplines, six major countries, and a time span from 1965 to 1971. For 1972 the publication and citation counts covered 2143 journals. All of the citation data, and much of the publication data, were from journals covered by the Science Citation Index (SCI). The publication counts indicate clear first rank position for the U.S. in scientific publications, followed at a significant distance by the Soviet Union. Far below the U.S. and U.S.S.R. are the United Kingdom and Germany, followed by Japan and France. The national publication rankings vary widely from discipline to discipline, with Soviet chemistry high, physics moderate and biology low. The U.S. is the most highly cited country, followed by the U.K.; Germany and Japan are at a middle level, with French and Soviet publications the least heavily cited.
On the equivalence of boolean and weighted searching based on the convertibility of query forms
Authors: Angione Pauline V. 
Published: June 2007

AbstractConsideration is given to the nature of the retrieval process with emphasis on the selection algorithm employed, and its relation to document set and query form.Proof is given of the equivalence of Boolean and weighted search methods, this proof being based on the ability to convert any Boolean search request to weighted form and, similarly, any weighted request to Boolean form.
The stability of two common matching functions in classification with respect to a proposed measure
Authors: Yu C. T. 
Published: June 2007

AbstractA measure for the quantification of the changes in classification under small changes in data is proposed. A comparison of two common matching functions, namely the single matching function and the cosine function, is made with respect to the measure. The sensitivities of clusters defined as connected components and as maximal complete subgraphs are also compared.
A general theory of bibliometric and other cumulative advantage processes
Authors: Price Derek De Solla 
Published: June 2007

AbstractA Cumulative Advantage Distribution is proposed which models statistically the situation in which success breeds success. It differs from the Negative Binomial Distribution in that lack of success, being a non‐event, is not punished by increased chance of failure. It is shown that such a stochastic law is governed by the Beta Function, containing only one free parameter, and this is approximated by a skew or hyperbolic distribution of the type that is widespread in bibliometrics and diverse social science phenomena. In particular, this is shown to be an appropriate underlying probabilistic theory for the Bradford Law, the Lotka Law, the Pareto and Zipf Distributions, and for all the empirical results of citation frequency analysis. As side results one may derive also the obsolescence factor for literature use. The Beta Function is peculiarly elegant for these manifold purposes because it yields both the actual and the cumulative distributions in simple form, and contains a limiting case of an inverse square law to which many empirical distributions conform.
Development of a semantic differential to access users' attitudes towards a batch mode information retrieval system (ERIC)
Authors: Allen Sheilah , Matheson Joyce 
Published: June 2007

AbstractA semantic differential scale was designed to assess users' attitudes toward a batch mode retrieval system based on the ERIC tape data base operated by the Information/Knowledge Research Center of the Faculty of Education of the University of British Columbia. Ten concepts representative of the system were grouped (Input, Output, and General) and matched with sixteen adjective pairs (Evaluative, Desirability, and Enormity). Demographic information was obtained from the 35 faculty members and graduate student users responding to the questionnaire. Although questionnaire returns were somewhat low (37%), statistical analysis by grouping and item analysis generally confirmed the hypothetical clustering of both concepts and adjective pairs. Moreover, credence was given to more recent semantic differential study results (Katzer, 1972) as opposed to the classic conclusions of Osgood, Suci, and Tannen‐baum (1957). A short form of the questionnaire was designed to provide for continuous evaluation of the system.