bluuebunny/crossref_metadata_2025_split huggingface dataset:
A new patient with Lowry–Wood syndrome with mild phenotype
Authors: Brunetti‐Pierri Nicola , De Brasi Daniele , Ikegawa Shiro , Camera Giovanni , Andria Generoso , Sebastio Gianfranco 
Published: March 2003

AbstractLowry–Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations. © 2003 Wiley‐Liss, Inc.
Adhesion between poly(ethylene terephthalate) silk and chlorohydrin rubber for aerial film
Authors: Song Yuexian , Zheng Yuansuo , Wang Youdao 
Published: March 2003

AbstractThe surface adhesion activation of poly(ethylene terephthalate) silk (PET silk) was accomplished through dipping in a reaction product of a water‐soluble modified epoxide resin (SJR‐2) and a precondensed resorcinol‐formaldehyde (SJR‐1), and by partial curing of the dip. Then, the adhesion activated sample was coated with a single resorcinol‐formaldehyde latex (RFL) dip prepared from SJR‐1. The effects of heat treatment conditions and formulation of impregnation solution as well as RFL prepared with water‐soluble SJR‐1 resin on the adhesion between PET silk and chlorohydrin rubber for aerial film were studied. High adhesion between PET silk and chlorohydrin rubber was obtained by using optimized RFL formulation and heat treatment condition, and the high levels of adhesion were maintained after oil impregnating test, dynamic fatigue and storage stability test. The PET silk possessed good adhesion to natural rubber (NR), chloroprene rubber (CR), hydrogenated nitrile rubber (HNBR), acrylonitrile‐butadiene and rubber (NBR), and chlorohydrin rubber (CHR). RFL filled with diffused carbon black improved the fatigue endurance and oil resistance of adhesion. The adhesion activator is nontoxic. This method of adhesion activation and RFL preparation for adhesion treatment of poly(ethylene terephthalate) silk is a practical technique with excellent technological, economical, and safety effects. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 2097–2099, 2003
Quantitative evaluation of cotton‐bound glyoxal in the presence of glycols
Authors: Schramm C. , Rinderer B. 
Published: March 2003

AbstractCotton fabric is modified chemically to convey crease resistance to the cellulosic material by means of an appropriate crosslinking agent. For this purpose glyoxal was tested as a nonformaldehyde durable press agent. The cotton‐bound glyoxal can be quantified by means of isocratic HPLC, whereby the glyoxal‐treated fabric is hydrolyzed by a NaOH solution. During this pretreatment glyoxal is extracted from the cellulosic sample and converted into glycolate by an internal Cannizzaro reaction. The addition of glycols such as ethylene glycol or diethylene glycol into the formulation results in a remarkable decrease of the amount of glyoxal that is detected. This phenomenon can be explained by the fact that the glycol reacts with the glyoxal, thus hampering the internal Cannizzaro reaction. The acidic hydrolysis and the alkaline hydrolysis provide the same results, thus indicating that the alkaline treatment removes all the cotton‐bound glyoxal. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 1870–1875, 2003
Identification and characterization of a peptide mimetic that may detect a species of disease‐associated anticardiolipin antibodies in patients with the antiphospholipid syndrome
Authors: Visvanathan Sudha , Scott Jamie K. , Hwang Kwan‐Ki , Banares Michelle , Grossman Jennifer M. , Merrill Joan T. , FitzGerald John , Chukwuocha Reginald U. , Tsao Betty P. , Hahn Bevra H. , Chen Pojen P. 
Published: March 2003

AbstractObjectiveTo test the feasibility of applying a mimetic (specific for a patient‐derived prothrombotic anticardiolipin antibody [aCL]) to study the homologous, disease‐associated aCL in patients with antiphospholipid syndrome (APS).MethodsWe used the CL15 monoclonal aCL to screen 17 phage‐display peptide libraries. Peptides (corresponding to recurrent peptide sequences) and their derivatives were synthesized and analyzed for binding to CL15 and for their abilities to inhibit CL15 from binding to cardiolipin. A peptide was chosen and used to study CL15‐like IgG aCL in plasma samples from patients with APS, patients with systemic lupus erythematosus (SLE) but without APS, and normal healthy donors.ResultsLibrary screening with CL15 yielded 4 recurrent peptide sequences. Analyses of peptides showed that peptide CL154C reacted with antibody CL15 and inhibited binding of CL15 to cardiolipin, indicating that peptide CL154C may be a peptide mimetic for the CL15 aCL. Initial studies with plasma samples revealed that CL154C‐reactive IgG was present (positivity defined as the mean + 3 SD optical density of the 25 normal controls) in 15 of 21 APS patients and 1 of 12 SLE patients.ConclusionThese findings suggest that it is feasible to develop a specific enzyme‐linked immunosorbent assay for each immunologically and functionally distinct disease‐associated aCL. Additional testing of CL154C with a larger number of APS patients and SLE patients, as well as identification of peptide mimetics for each distinct aCL, will reveal the diagnostic potential of CL154C and other mimetics in identifying patients with aCL who are at risk of developing life‐threatening thrombosis.
Incorporating user search behavior into relevance feedback
Authors: Ruthven Ian , Lalmas Mounia , van Rijsbergen Keith 
Published: March 2003

AbstractIn this paper, we present five user experiments on incorporating behavioral information into the relevance feedback process. In particular, we concentrate on ranking terms for query expansion and selecting new terms to add to the user's query. Our experiments are an attempt to widen the evidence used for relevance feedback from simply the relevant documents to include information on how users are searching. We show that this information can lead to more successful relevance feedback techniques. We also show that the presentation of relevance feedback to the user is important in the success of relevance feedback.
Requirements for a cocitation similarity measure, with special reference to Pearson's correlation coefficient
Authors: Ahlgren Per , Jarneving Bo , Rousseau Ronald 
Published: March 2003

AbstractAuthor cocitation analysis (ACA), a special type of cocitation analysis, was introduced by White and Griffith in 1981. This technique is used to analyze the intellectual structure of a given scientific field. In 1990, McCain published a technical overview that has been largely adopted as a standard. Here, McCain notes that Pearson's correlation coefficient (Pearson's r) is often used as a similarity measure in ACA and presents some advantages of its use. The present article criticizes the use of Pearson's r in ACA and sets forth two natural requirements that a similarity measure applied in ACA should satisfy. It is shown that Pearson's r does not satisfy these requirements. Real and hypothetical data are used in order to obtain counterexamples to both requirements. It is concluded that Pearson's r is probably not an optimal choice of a similarity measure in ACA. Still, further empirical research is needed to show if, and in that case to what extent, the use of similarity measures in ACA that fulfill these requirements would lead to objectively better results in full‐scale studies. Further, problems related to incomplete cocitation matrices are discussed.
Pharmacokinetics of intravenous chlorzoxazone in rats with dehydration and rehydration: effects of food intakes
Authors: Kim Yu C. , Kim Yoon G. , Kim Eun J. , Cho Min K. , Kim Sang G. , Lee Myung G. 
Published: March 2003

AbstractThe following results were obtained recently from our laboratories; in rats with 72‐h water deprivation (rats with dehydration), the hepatic cytochrome P450 2E1 (CYP2E1) was three‐fold induced with an increase in the mRNA. Rehydration of 48‐h water‐deprived rats for the next 24 h with free access of food (rats with rehydration) restored CYP2E1 level to that of control. However, rehydration of 48‐h water‐deprived rats for the next 24 h with limited food supply (20% of control) failed to restore the CYP2E1 level to that of control. Hence, the CYP2E1 changes in rats with dehydration and rehydration resulted from differences in food intakes but not from dehydration or rehydration per'se. Chlorzoxazone (CZX) is metabolized to 6‐hydroxychlorzoxazone (OH‐CZX) mainly by CYP2E1 in rats. Therefore, the pharmacokinetics of CZX and OH‐CZX were compared after intravenous administration of CZX, 25 mg/kg, to control rats and rats with dehydration and rehydration with free access of food. In rats with dehydration, the amount of 24‐h urinary excretion of free OH‐CZX plus its glucuronide conjugates (Ae OH−CZX, 0–24 h, expressed in terms of intravenous dose of CZX) was significantly greater (45.6 compared with 35.6%) and area under the plasma concentration–time curve from time zero to time infinity (AUC) of CZX was significantly smaller (2190 compared with 3200 µg min/ml) than those in control rats. The above data indicated that the formation of OH‐CZX increased significantly in rats with dehydration due to 3‐fold induction of CYP2E1. In rats with rehydration with free access of food, the Ae OH−CZX, 0–24 h (39.0 compared with 35.6%) and AUC of CZX (2870 compared with 3200 µg min/ml) were restored (comparable) to control levels since the expression of CYP2E1 in rats with dehydration returned to control level by rehydration. The above data indicate that CZX could be used as a chemical probe to assess the activity of CYP2E1 in rats with dehydration and rehydration. Copyright © 2003 John Wiley & Sons, Ltd.
Specific congenital heart defects in RSH/Smith‐Lemli‐Opitz syndrome: Postulated involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia
Authors: Digilio Maria Cristina , Marino Bruno , Giannotti Aldo , Dallapiccola Bruno , Opitz John M. 
Published: March 2003

AbstractBACKGROUNDRSH/Smith‐Lemli‐Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2–3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated.METHODSWe report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes.RESULTSAnatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis.CONCLUSIONSThe specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD ± common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations. Birth Defects Research (Part A) 67149–153, 2003. © 2003 Wiley‐Liss, Inc.
Guidelines for case classification for the national birth defects prevention study
Authors: Rasmussen Sonja A. , Olney Richard S. , Holmes Lewis B. , Lin Angela E. , Keppler‐Noreuil Kim M. , Moore Cynthia A. 
Published: March 2003

AbstractBackgroundPrevious studies have suggested that etiologic heterogeneity may complicate epidemiologic analyses designed to identify risk factors for birth defects. Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies.METHODSThe goal of the National Birth Defects Prevention Study (NBDPS), an ongoing multi‐site case–control study, is to identify environmental and genetic risk factors for birth defects. Information on environmental risk factors is collected through an hour‐long maternal interview, and DNA is collected from the infant and both parents for evaluation of genetic risk factors. Clinical data on infants are reviewed by clinical geneticists to ensure they meet the detailed case definitions developed specifically for the study. To standardize the methods of case classification for the study, an algorithm has been developed to guide NBDPS clinical geneticists in this process.RESULTSMethods for case classification into isolated, multiple, and syndrome categories are described. Defects considered minor for the purposes of case classification are defined. Differences in the approach to case classification for studies of specific defects and of specific exposures are noted.CONCLUSIONSThe case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology. Consideration of these guidelines will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects. Birth Defects Research (Part A) 67:193–201, 2003. © 2003 Wiley‐Liss, Inc.
Population‐based study of l‐transposition of the great arteries: Possible associations with environmental factors
Authors: Kuehl Karen S. , Loffredo Christopher A. 
Published: March 2003

AbstractBACKGROUNDL transposition of the great arteries (l‐tga) is an uncommon congenital cardiovascular malformation that occurs from abnormal looping of the primitive cardiac tube. Little is known about risk factors for the development of l‐tga.METHODSThis study is a case–control study of 36 cases of l‐tga compared to 3,495 population‐based live born infant controls in the Baltimore Washington Infant Study (1981–1989 births). Extensive personal and occupational exposure data from parental interviews were available for all subjects. A geographic information system was used to identify potential environmental exposures, for example, hazardous waste sites prioritized for cleanup (National Priority List sites). Adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated using exact parameter estimates from logistic regression.RESULTSMost infants with l‐tga had multiple cardiovascular anomalies, with single ventricle in 47%. Over 75% of all cases of l‐tga occur in two regions of contiguous cases. Within these regions, the case control OR of l‐tga are 13.4 (95%CI, 4.7–37.8) Both areas are characterized by release of toxic chemicals into air and by hazardous waste sites. Parental exposures to hair dye, smoking and laboratory chemicals are also associated with case status.CONCLUSIONSL‐tga, a congenital cardiovascular malformation due to very early abnormalities in embryogenesis, is associated strongly with residency in two small regions of Maryland and District of Columbia (DC), and with other parental personal or occupational exposures. Additional research is needed to identify the components of spatial and other associations that constitute etiologic risk factors. Birth Defects Research (Part A) 67162–167, 2003. © 2003 Wiley‐Liss, Inc.
Exposure‐disease continuum for 2‐chloro‐2′‐deoxyadenosine, a prototype ocular teratogen. 3. Intervention with PK11195
Authors: Charlap Jeffrey H. , Donahue Ronald J. , Knudsen Thomas B. 
Published: March 2003

AbstractBACKGROUNDTreatment of pregnant mice with 2‐chloro‐2′‐deoxyadenosine (2CdA) on Day 8 of gestation induces microphthalmia through a mechanism linked to the p53 tumor suppressor pathway. The present study defines the response of Day 8 mouse embryos through time with respect to pharmacologic intervention with PK11195, a ligand of the mitochondrial peripheral benzodiazepine receptor (Bzrp).METHODSPregnant CD‐1 mice dosed with 2CdA with or without PK11195 on gestation Day 8 provided fetuses for teratologic evaluation on Day 14 and Day 17; HPLC measured pyridine nucleotides (NADH/NAD+) at 1.5 hr, RT‐PCR measured mitochondrial 16S rRNA abundance at 3.0 hr, and p53 protein induction was assessed with immunostaining at 4.5 hr postexposure.RESULTSThe mean incidences of malformed fetuses were significantly higher in the 7.5 mg/kg 2CdA treatment group (50.2% malformed) vs. the 2CdA + 4.0 mg/kg PK11195 co‐treatment group (4.4% malformed). Malformed fetuses displayed a range of ocular defects that included microphthalmia and keratolenticular dysgenesis (Peters anomaly). No malformations were observed in the control or PK11195 alone groups. PK11195 also protected litters from increased resorption rates and fetal weight reduction. It did not rescue early effects on NADH balance (1.5 hr) or 16S rRNA expression (3.0 hr); however, the p53 response (4.5 hr) was downgraded in 2CdA + PK11195 embryos vs. 2CdA alone. By delaying the administration of PK11195 in 1.5 hr intervals it was determined that the window for protection closed between 4.5 to 6.0 hr after 2CdA.CONCLUSIONSThe capacity of PK11195 to suppress the pathogenesis of microphthalmia implies a critical role for mitochondrial peripheral benzodiazepine receptors in the p53‐dependent mode of action of 2CdA on ocular development. Birth Defects Research (Part A) 67:108–115, 2003. © 2003 Wiley‐Liss, Inc.
T‐box genes and cardiac development
Authors: Ryan Kenneth , Chin Alvin J. 
Published: March 2003

AbstractBackgroundT‐box genes play roles in vertebrate gastrulation and in later organogenesis. Their existence in all metazoans examined so far indicates that this is an evolutionarily ancient gene family. Drosophila melanogaster has eight T‐box genes, whereas Caenorhabditis elegans has 22. Mammals appear to have at least 18 T‐box genes, comprising five subfamilies.MethodsA full range of cytological, developmental, molecular and genetic methodologies have recently been applied to the study of T‐box genes.ResultsOver the last 5 years, mutations in TBX1 and TBX5 have been implicated in two human disorders with haplo‐insufficient cardiovascular phenotypes, DiGeorge/velocardiofacial syndrome and Holt‐Oram (“heart‐hand”) syndrome. Interestingly, the number of T‐box gene family members discovered to have cardiac or pharyngeal arch expression domains during vertebrate embryonic development has steadily grown. In addition, various Tbx5 loss‐of‐function models in organisms as distant as the mouse and zebrafish do indeed phenocopy Holt‐Oram syndrome. Finally, the intriguing discovery earlier this year that a T‐box gene is expressed in a subset of cardioblasts in D. melanogaster suggests that members of this gene family may have fundamental, conserved roles in cardiovascular pattern formation.ConclusionsThese developments prompted us to review the current understanding of the contribution of T‐box genes to cardiovascular morphogenesis. Birth Defects Research (Part C) 69:25–37, 2003. © 2003 Wiley‐Liss, Inc.
Neural crest and cardiovascular development: A 20‐year perspective
Authors: Hutson Mary Redmond , Kirby Margaret L. 
Published: March 2003

AbstractBackgroundTwenty years ago this year was the first publication describing a region of neural crest cells necessary for normal cardiovascular development. Ablation of this region in chick resulted in persistent truncus arteriosus, mispatterning of the great vessels, outflow malalignments, and hypoplasia or aplasia of the pharyngeal glands.MethodsWe begin with a historical perspective and then review the progress that has been made in the ensuing 20 years in determining the direct and indirect contributions of the neural crest cells, now termed cardiac neural crest cells, in cardiovascular and pharyngeal arch development. Many of the molecular pathways that are now known to influence the specification, migration, patterning and final targeting of the cardiac neural crest cells are also reviewed.ResultsAlthough much knowledge has been gained by using many genetic manipulations to understand the cardiac neural crest cells' role in cardiovascular development, most models fail to explain the phenotypes seen in syndromic and non‐syndromic human congenital heart defects, such as the DiGeorge syndrome.ConclusionsWe propose that the cardiac neural crest exists as part of a larger cardiocraniofacial morphogenetic field and describe several human syndromes that result from abnormal development of this field. Birth Defects Research (Part C) 69:2–13, 2003. © 2003 Wiley‐Liss, Inc.
Development of the cardiac pacemaking and conduction system
Authors: Gourdie Robert G. , Harris Brett S. , Bond Jaqueline , Justus Charles , Hewett Kenneth W. , O'Brien Terrence X. , Thompson Robert P. , Sedmera David 
Published: March 2003

AbstractThe heartbeat is initiated and coordinated by a heterogeneous set of tissues, collectively referred to as the pacemaking and conduction system (PCS). While the structural and physiological properties of these specialized tissues has been studied for more than a century, distinct new insights have emerged in recent years. The tools of molecular biology and the lessons of modern embryology are beginning to uncover the mechanisms governing induction, patterning and developmental integration of the PCS. In particular, significant advances have been made in understanding the developmental biology of the fast conduction network in the ventricles – the His‐Purkinje system. Although this progress has largely been made by using animal models such as the chick and mouse, the insights gained may help explain cardiac disease in humans, as well as lead to new treatment strategies. Birth Defects Research (Part C) 69:46–57, 2003. © 2003 Wiley‐Liss, Inc.
A Combined Invariant Test for a Null Variance Ratio
Authors: El‐Bassiouni M.Y. , Halawa A.M. 
Published: March 2003

AbstractThis paper investigates the properties of a test that combines the Wald and LMPI (locally most powerful invariant) tests of variance components in unbalanced mixed models. The combined test statistic is easily computed and its null distribution may be approximated by a central F distribution with the degrees of freedom of the numerator adjusted in accordance with the degree of imbalance of the design. Numerical methods are used to show that the approximation is accurate over a wide range of conditions and that the efficiency of the combined test, relative to the power envelope, is satisfactorily high overall.