bluuebunny/crossref_metadata_2025_split huggingface dataset:
Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha
Authors: Tanaka Akemi , Takeda Taisuke , Hoshina Takao , Fukai Kazuyoshi , Yamano Tsunekazu 
Published: June 2010

AbstractFabry disease is an X‐linked inherited lysosomal storage disorder caused by an inborn deficiency of the enzyme α‐galactosidase A. Enzyme replacement therapy (ERT) with agalsidase alpha or beta isozymes is an effective treatment. Cross‐reactivity of immunoglobulin G (IgG) antibodies with agalsidase alpha and beta has been reported, but no such reaction has been recorded for IgE antibodies. We present the case of a patient with Fabry disease who developed antiagalsidase beta IgE antibodies without cross‐reactivity to agalsidase alpha. A 17‐year‐old boy with Fabry disease had suffered from severe atopic dermatitis since infancy, and he complained for several years of peripheral pain during the summer months and when exercising. Fabry disease was confirmed by family history and a positive enzyme test, and ERT was commenced. Following infusion of agalsidase beta (1.0 mg/kg), the patient complained of a high temperature in his hands and feet, and purulent eczema developed. The infusion dose was reduced to 0.2 mg/kg, but the hyperthermia did not change, although its duration decreased. After three infusions, eosinophilia developed (9.4%; 573 cells/μl blood) and remained unresolved after four infusions with agalsidase beta. Treatment with this enzyme was discontinued, and agalsidase alpha (0.2 mg/kg) started. This produced immediate resolution of the eosinophilia, which has been maintained during follow‐up. In conclusion, this patient developed IgE antibodies against agalsidase beta, which demonstrated no cross‐reactivity to agalsidase alpha. These findings emphasize the importance of analyzing IgE antibodies against both enzymes when patients exhibit severe infusion‐related events.
Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications
Authors: Al‐Hassnan Zuhair N. , Imtiaz Faiqa , Al‐Amoudi Mohamed , Rahbeeni Zuhair , Al‐Sayed Moeen , Al‐Owain Mohammed , Al‐Zaidan Hamad , Al‐Odaib Ali , Rashed Mohamed S. 
Published: June 2010

AbstractMedium‐chain acyl‐CoA dehydrogenase deficiency (MCADD), caused by mutated ACADM gene, is a potentially fatal fatty acid oxidation defect. Detection of MCADD is now part of tandem mass spectrometry (MS‐MS)‐based newborn screening programs worldwide. To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.985A>G, being the most common in patients of northwestern European descent. In Saudi Arabia, the Newborn Screening Program, officially launched in 2005, screens for 16 disorders including MCADD. Over a period of 3 years, 237,812 newborns were screened; 13 were identified to have MCADD giving an incidence of 1:18,293. Since the introduction of MS‐MS to our institution, however, a total of 30 patients were detected to have MCADD. These cases were either newborns, at high‐risk family members, or clinically suspected. The C8‐carnitine levels (median 3.31, range 0.81–16.33 µM) were clearly diagnostic in all analyzed samples. Sequencing ACADM in 20 DBS revealed two novel mutations: c.362C>T (p.T121I) and c.347G>A (p.C116Y) substitutions, neither of which were detected in 300 chromosomes from controls. Eighteen (90%) patients were homozygous for the T121I mutation and two (10%) were compound heterozygous (T121I/C116Y). Our molecular data lend further support to MS‐MS biochemical screening for MCADD and provide evidence for the relatively high incidence of MCADD in the Arab population. The identification of a founder mutation for MCADD has important implications for the preventive screening programs not only in Saudi Arabia but potentially also in other countries in the region.
Quantitation of Hydroperoxy‐, Keto‐ and Hydroxy‐Dienes During Oxidation of FAMEs from High‐Linoleic and High‐Oleic Sunflower Oils
Authors: Morales Arturo , Dobarganes Carmen , Márquez‐Ruiz Gloria , Velasco Joaquín 
Published: June 2010

AbstractThe objective of this work was to study the quantitative formation of hydroperoxydienes, ketodienes and hydroxydienes during autoxidation at 40 °C of fatty acid methyl esters derived from two sunflower oils with different degree of unsaturation, high‐linoleic sunflower oil and high‐oleic sunflower oil. The analysis of the oxidation compounds was carried out by NP‐HPLC–UV and results were compared to the specific extinction at 232 nm (K232) and the peroxide value (PV). Analysis of FAME polymers by HPSEC was also performed to discard samples of advanced oxidation. Results showed that the contents of hydroperoxydienes with respect to the PV were higher for the high linoleic (HL) sample. At the end of the period of slow polymerization (ΔPol ≤ 1 wt%), the content of hydroperoxydienes was found to be 86.0 and 30.7 μg/mg for the HL and high oleic (HO) samples, respectively. Throughout this period, hydroperoxydienes constituted around 90 and 50 wt% of the total hydroperoxides in the HL and HO samples, respectively, suggesting that a significant oxidation of oleic acid also occurred in both samples. The contents of ketodienes and hydroxydienes as a whole constituted 2–3 wt% of the diene compounds analyzed at the end of the period of slow polymerization. Higher contents of ketodienes than of hydroxydienes were found throughout the oxidation time, and the ratio between the contents of ketodienes and hydroxydienes increased with a factor that changed from 1 to 2 throughout the period of slow polymerization.
Brief report: Cross‐informant ratings of self‐ and other‐regulation at career transitions in adolescence
Authors: Dietrich Julia , Kracke Bärbel 
Published: June 2010

ABSTRACTIndividual initiative is required to successfully master career transitions in adolescence, and also parents play an important role in this process. Past research largely omitted co‐agency in transition‐related activities between adolescents and their parents, which could be described in terms of self‐ and other‐regulation. The present pilot study examined adolescents’ and mothers’ career‐specific regulatory behaviors as perceived from both agents’ perspectives. 38 German adolescents rated importance and engagement in one transition‐related personal goal and reported on intensity of career exploration activities. Furthermore, they reported on their perceptions of mothers’ career‐related behaviors and confidence in their offspring's transition management. All measures were also assessed from the mothers’ point of view. Results revealed associations within and across family members’ ratings that showed similarities as well as differences in perceptions of how behaviors associate. Partial correlation analyses showed that specific maternal behavior not contingent upon her general warmth associated with child behavior.
Dissociation In Non-clinical And Clinical Sample Of Czech Adolescents. Reliability And Validity Of The Czech Version Of The Adolescent Dissociative Experiences Scale
Authors: Soukup J. , Papežová H. , Kuběna A.A. , Mikolajová V. 
Published: June 2010

AbstractObjectiveThe purpose of this study was to examine psychometric properties of the Czech language version of the Adolescent Dissociative Experiences Scale (A-DES) [2].Method653 non-clinical participants and 162 adolescent psychiatric inpatients completed Czech versions of the A-DES and the Somatoform Dissociation Questionnaire (SDQ-20), and provided further information (data regarding demographic variables, diagnoses, further psychopathology).ResultsThe Czech A-DES has very good internal consistency, test-retest reliability and a good validity, though its predictive power is limited. The ADES scores significantly correlate with the measure of somatoform dissociation, a presence of clinician-observed dissociative symptoms, reported traumatic experiences, self injurious behavior, and polysymptomatic diagnostic picture. A-DES scores were significantly higher in ADHD group, but not in a group with a diagnosis of a dissociative disorder.ConclusionThe authors stress that all adolescent psychiatric patients who show more complex behavioral disturbances, have histories of trauma, show self-injurious behaviors or have ADHD diagnosis should be screened for dissociation.
Agile manufacturing: Relation to JIT, operational performance and firm performance
Authors: Inman R. Anthony , Sale R. Samuel , Green Kenneth W. , Whitten Dwayne 
Published: June 2010

AbstractA structural model incorporating agile manufacturing as the focal construct is theorized and tested. The model includes the primary components of JIT (JIT‐purchasing and JIT‐production) as antecedents and operational performance and firm performance as consequences to agile manufacturing. Using data collected from production and operations managers working for large U.S. manufacturers, the model is assessed following a structural equation modeling methodology. The results indicate that JIT‐purchasing has a direct positive relationship with agile manufacturing while the positive relationship between JIT‐production and agile manufacturing is mediated by JIT‐purchasing. The results also indicate that agile manufacturing has a direct positive relationship with the operational performance of the firm, that the operational performance of the firm has a direct positive relationship with the marketing performance of the firm, and that the positive relationship between the operational performance of the firm and the financial performance of the firm is mediated by the marketing performance of the firm.
Late Quaternary glaciation and equilibrium-line altitudes of the Mayan Ice Cap, Guatemala, Central America
Authors: Roy Alex J. , Lachniet Matthew S. 
Published: June 2010

AbstractThe Sierra los Cuchumatanes (3837 m), Guatemala, supported a plateau ice cap and valley glaciers around Montaña San Juan (3784 m) that totaled ∼ 43 km2 in area during the last local glacial maximum. Former ice limits are defined by sharp-crested lateral and terminal moraines that extend to elevations of ∼ 3450 m along the ice cap margin, and to ca. 3000–3300 m for the valley glaciers. Equilibrium-line altitudes (ELAs) estimated using the area–altitude balance ratio method for the maximum late Quaternary glaciation reached as low as 3470 m for the valley glaciers and 3670 m for the Mayan Ice Cap. Relative to the modern altitude of the 0°C isotherm of ∼ 4840 m, we determined ELA depressions of 1110–1436 m. If interpreted in terms of a depression of the freezing level during maximal glaciation along the modern lapse rate of − 5.3°C km–1, this ΔELA indicates tropical highland cooling of ∼ 5.9 to 7.6 ± 1.2°C. Our data support greater glacial highland cooling than at sea level, implying a high tropical sensitivity to global climate changes. The large magnitude of ELA depression in Guatemala may have been partially forced by enhanced wetness associated with southward excursions of the boreal winter polar air mass.
Localization and function ofRhipicephalus (Boophilus) microplusvitellin-degrading cysteine endopeptidase
Authors: SEIXAS ADRIANA , ESTRELA ANDRÉIA B. , CEOLATO JULIANA C. , PONTES EMERSON G. , LARA FLÁVIO , GONDIM KATIA C. , TERMIGNONI CARLOS 
Published: June 2010

SUMMARYThe tickRhipicephalus (Boophilus) microplusis an important parasite of cattle in many areas of the tropics. Characterization of molecules involved in mechanisms such as vitellogenesis and embryo development may contribute to a better understanding of this parasite's physiology. The vitellin-degrading cysteine endopeptidase (VTDCE) is the most active enzyme involved in vitellin hydrolysis inR. micropluseggs. Here we show an association between VTDCE and vitellin in an additional site, apart from the active site. Our data also demonstrate cysteine endopeptidase activity in different tissues such as ovary, gut, fat body, salivary gland and female haemolymph, where it is controlled by a physiological inhibitor. InR. microplusfemale gut, VTDCE is localized in areas of protein synthesis and trafficking with the underlying haemolymph. VTDCE is also localized in the ovary basal region, in vesicle membranes of ovary pedicel cells and in oocyte cytosol. These results suggest that VTDCE plays a role in vitellin digestion during tick development.
Use of fluorescent probes as a useful tool to identify resistantSchistosoma mansoniisolates to praziquantel
Authors: COUTO F. F. B. , COELHO P. M. Z. , ARAÚJO N. , KUSEL J. R. , KATZ N. , MATTOS A. C. A. 
Published: June 2010

SUMMARYThe use of chemotherapy on a mass scale in endemic areas may lead to the appearance of resistant isolates through the mechanism of selective drug pressure. Studies have demonstrated that praziquantel (PZQ) is able to inhibit the excretory activity and to cause tegumental damage inSchistosoma mansoniadult worms. The use of the probe resorufin to evaluate excretory activity, as well as the probe Hoechst 33258 to detect tegumental damage in adult worms, may represent a method to identify resistant (or less susceptible) isolates. The purpose of the present work was to compare the changes caused by PZQ in the function of the excretory system and in the integrity of the tegument of adult worms from the LE isolate (susceptible to PZQ) and the LE-PZQ isolate (less susceptible to PZQ). Worms from the isolate LE-PZQ showed less severe tegumental lesions, in bothin vitroandin vivoexperiments, detected by labelling with Hoechst 33258 and continued to have a functional excretory system as shown by labelling with resorufinin vitro.
Characteristics of granuloma formation and liver fibrosis in murine schistosomiasis mekongi: a morphological comparison between Schistosoma mekongi and S. japonicum infection
Authors: SHIMADA M. , KIRINOKI M. , SHIMIZU K. , KATO-HAYASHI N. , CHIGUSA Y. , KITIKOON V. , PONGSASAKULCHOTI P. , MATSUDA H. 
Published: June 2010

SUMMARYA histopathological study was performed to clarify the characteristics of granuloma formation and liver fibrosis in Schistosoma mekongi infection in comparison with S. japonicum infection. Mice were exposed to S. mekongi (Laotian strain) and S. japonicum (Japanese strain) cercariae, and were dissected at 6, 8, 12, 16, and 20 weeks post-exposure. In the liver, granulomas in S. mekongi infection were cellular, initially organized with foam cells, and continuously appeared in the intralobular area, while granulomas in S. japonicum infection were fibrous and did not continuously appear in the intralobular area. Portal fibrosis was not seen in S. mekongi infection, but was commonly seen in S. japonicum infection in the later weeks. Granulomas in the small intestine were seen mainly in the submucosa with foam cells in S. mekongi infection and without foam cells in S. japonicum infection. The lung granulomas contained mainly histiocytes in both S. mekongi and S. japonicum infection. The absence of portal fibrosis in S. mekongi infection allows schistosome eggs to infiltrate into the intralobular area continuously, which can be what lies behind the ultrasonographic differences; the echogenic network pattern as was seen in S. japonicum infection, has not been noted in S. mekongi infection.
Post 3.9 Ma fault activity within the West Antarctic rift system: onshore evidence from Gandalf Ridge, Mount Morning eruptive centre, southern Victoria Land, Antarctica
Authors: Martin Adam P. , Cooper Alan F. 
Published: June 2010

AbstractA hawaiite dyke dated at 3.88 ± 0.05 Ma from the Mount Morning eruptive centre intrudes a diamictite deposit at Gandalf Ridge in the southern Ross Sea. The dyke has been dextrally offset up to 6 m horizontally by faults interpreted as the onshore continuation of the West Antarctic rift system (WARS) fault array. Felsic dykes emplaced during the Miocene are also present at Gandalf Ridge. The offset of the Miocene dykes is equivalent to the offset on the hawaiite dyke, suggesting that at this locality movement on faults within WARS has been restricted to a period more recent than c. 3.88 Ma. Over this period the minimum average rate of movement on these faults within WARS is 0.0015 mm yr-1.
Hierarchical cognitive and psychosocial predictors of amnestic mild cognitive impairment
Authors: HAN S. DUKE , SUZUKI HIDEO , JAK AMY J. , CHANG YU-LING , SALMON DAVID P. , BONDI MARK W. 
Published: June 2010

AbstractTo identify neuropsychological and psychosocial factors predictive of amnestic Mild Cognitive Impairment (aMCI) among a group of 94 nondemented older adults, we employed a novel nonlinear multivariate classification statistical method called Optimal Data Analysis (ODA) in a dataset collected annually for 3 years. Performance on measures of memory and visuomotor processing speed or symptoms of depression in year 1 predicted aMCI status by year 2. Performance on a measure of learning at year 1 predicted aMCI status at year 3. No other measures significantly predicted incidence of aMCI at years 2 and 3. Results support the utility of multiple neuropsychological and psychosocial measures in the diagnosis of aMCI, and the present model may serve as a testable hypothesis for prospective investigations of the development of aMCI. (JINS, 2010, 16, 721–729.)
Commercial Cucurbita pepo squash hybrids carrying disease resistance introgressed from Cucurbita moschata have high genetic similarity
Authors: Formisano Gelsomina , Paris Harry S. , Frusciante Luigi , Ercolano Maria R. 
Published: June 2010

Production of summer squash, Cucurbita pepo, can be severely limited by viral pathogens and powdery mildew. Resistance has been introgressed from Cucurbita moschata, and resistant hybrids have been commercially deployed. Our objective was to assess genetic affinities of such hybrids with susceptible, open-pollinated cocozelle and zucchini cultivars, and two disease-resistant lines derived from six generations of backcrossing to a susceptible zucchini cultivar. Amplified fragment length polymorphism (AFLP) EcoRI/MseI primer combinations were employed and, based on the resulting polymorphic bands, genetic similarities were estimated, and an unweighted pair group method using arithmetic average (UPGMA) cluster analysis was conducted. The open-pollinated cocozelle cultivars clustered with the resistant hybrids. The hybrids had greater similarities with one another than did the open-pollinated cultivars. The zucchini cultivars and their resistant backcross lines formed their own exclusive cluster. However, the resistant backcross lines showed less than 0.80 similarity with their recurrent parent. As the chromosome number of Cucurbita is high (2n = 2x = 40) and the resistances are inherited monogenically and oligogenically, these results, after six generations of backcrossing, cannot be explained by classical genetic linkage.
Viral Gastroenteritis in Charleston, West Virginia, in 2007: From Birth to 99 Years of Age
Authors: Wilhelm Carolyn M. , Hanna Samantha L. , Welch Christine A. , Shahid Haider , Minnich Linda L. , Daly Shane B. , Udall John N. 
Published: June 2010

Objective.To describe factors associated with a rectal swab or stool sample positive for norovirus, rotavirus, or adenovirus.Design.Retrospective study.Setting.Charleston Area Medical Center, a regional academic medical center in Charleston, West Virginia.Methods.Rectal swab or stool samples were obtained from patients suspected of having viral gastroenteritis. These samples were sent to the Charleston Area Medical Center virology laboratory for testing in 2007. Viral antigen in rectal swab and stool samples is detected by use of commercially available immunoassay kits for each virus. Data were extracted from the virology laboratory database for the following 1-year time period: January 1, 2007, through December 31, 2007. When necessary, additional information was obtained from electronic administrative data on patients.Results.There were 2,867 rectal swab and stool samples available for viral testing. Of these samples, 1,261 (44%) were positive for a virus. Of these positive samples, 972 (77%) were positive for norovirus, 182 (14%) were positive for rotavirus, and 110 (9%) were positive for adenovirus. The patients in the youngest age group had the highest number of test results positive for all 3 viruses. When the test results for the youngest age group (0-9 years) were compared with those for all the other age groups combined (10-99 years), the proportion of positive cases was highest for the youngest age group (P<.001). There were significant seasonal trends for all 3 viruses. Multivariate analysis of norovirus showed that season, source, sex, and age were significant predictors of a positive test result. Multivariate analysis of rotavirus showed that season and source were significant predictors of a positive test result. Multivariate analysis of adenovirus showed that season and age were significant predictors of a positive test result.Conclusions.We conclude (1) that these 3 viruses are common causes of gastroenteritis in Charleston, West Virginia; (2) that infants and young children are more likely to test positive for these viruses than are older individuals; (3) that norovirus was the most common cause of gastroenteritis; and (4) that there are seasonal trends for all 3 viruses.
Savant: genome browser for high-throughput sequencing data
Authors: Fiume Marc , Williams Vanessa , Brook Andrew , Brudno Michael 
Published: June 2010

Abstract
Motivation: The advent of high-throughput sequencing (HTS) technologies has made it affordable to sequence many individuals' genomes. Simultaneously the computational analysis of the large volumes of data generated by the new sequencing machines remains a challenge. While a plethora of tools are available to map the resulting reads to a reference genome, and to conduct primary analysis of the mappings, it is often necessary to visually examine the results and underlying data to confirm predictions and understand the functional effects, especially in the context of other datasets.
Results: We introduce Savant, the Sequence Annotation, Visualization and ANalysis Tool, a desktop visualization and analysis browser for genomic data. Savant was developed for visualizing and analyzing HTS data, with special care taken to enable dynamic visualization in the presence of gigabases of genomic reads and references the size of the human genome. Savant supports the visualization of genome-based sequence, point, interval and continuous datasets, and multiple visualization modes that enable easy identification of genomic variants (including single nucleotide polymorphisms, structural and copy number variants), and functional genomic information (e.g. peaks in ChIP-seq data) in the context of genomic annotations.
Availability: Savant is freely available at http://compbio.cs.toronto.edu/savant
Contact: savant@cs.toronto.edu