bluuebunny/crossref_metadata_2025_split huggingface dataset:
Persistent jaundice in an infant with homozygous beta thalassemia due to co‐inherited Crigler–Najjar syndrome
Authors: Aggarwal Varun , Seth Anju , Sharma Sunita , Aneja Satinder , Sammarco Pietro , Fabiano Carmelo 
Published: December 2009

AbstractClinically apparent jaundice is unusual in patients with β‐thalassemia major. Co‐inheritance of Gilbert syndrome has been reported to cause hyperbilirubinemia in these subjects. Crigler–Najjar syndrome is another rare disorder of bilirubin metabolism caused by mutation in the gene coding the enzyme UGT1A1. We report a patient of β‐thalassemia major who presented with persistent jaundice due to co‐inherited Crigler–Najjar syndrome type 2 secondary to a novel mutation in UGT1A1 gene [homozygous base substitution at position 362 (GGT>AGT) in exon 3]. Pediatr Blood Cancer 2010;54:627–628. © 2009 Wiley‐Liss, Inc.
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond‐Blackfan anemia
Authors: Song Min‐Jung , Yoo Eun‐Hyung , Lee Ki‐O , Kim Gee‐Na , Kim Hee‐Jin , Kim Sun‐Young , Kim Sun‐Hee 
Published: December 2009

AbstractDiamond‐Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in the RPS17 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c.1A>G), thus disrupting the natural start of the RPS17 protein biosynthesis. This is the third case of DBA from a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c.2T>G. Pediatr Blood Cancer 2010;54:629–631. © 2009 Wiley‐Liss, Inc.
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
Authors: Meeths Marie , Bryceson Yenan T. , Rudd Eva , Zheng Chengyun , Wood Stephanie M. , Ramme Kim , Beutel Karin , Hasle Henrik , Heilmann Carsten , Hultenby Kjell , Ljunggren Hans‐Gustaf , Fadeel Bengt , Nordenskjöld Magnus , Henter Jan‐Inge 
Published: December 2009

AbstractBackgroundGriscelli syndrome type 2 (GS2) is an autosomal‐recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed.ProcedureMutation analysis of RAB27A was performed by direct DNA sequencing. NK cell activity was evaluated and microscopy of the hair was performed to confirm the diagnosis.ResultsRAB27A mutations were found in 1 of the 21 families. This Swedish family had three affected children with heterozygous compound mutations consisting of a novel splice error mutation, [c.239G>C], and a nonsense mutation, [c.550C>T], p.R184X. The three additional children all carried homozygous RAB27A mutations, one of which is a novel splice error mutation, [c.240‐2A>C]. Of note, five of the six patients displayed neurological symptoms, while three out of six patients displayed NK cell activity within normal reference values, albeit low. A literature review revealed that 67% of GS2 patients have been reported with neurological manifestations.ConclusionsIdentification of RAB27A mutations can facilitate prompt diagnosis and treatment, and aid genetic counselling and prenatal diagnosis. Since five of six patients studied herein initially were diagnosed as having FHL, we conclude that the diagnosis of GS2 may be overlooked, particularly in fair‐haired patients with haemophagocytic syndromes. Pediatr Blood Cancer 2010;54:563–572. © 2009 Wiley‐Liss, Inc.
Ifosfamide‐induced encephalopathy and movement disorder
Authors: Ames Bethany , Lewis Lionel D. , Chaffee Sara , Kim Julie , Morse Richard 
Published: December 2009

AbstractIfosfamide is a widely used chemotherapeutic agent for the treatment of a broad spectrum of solid tumors. CNS toxicity is a well‐described side effect of ifosfamide, but the mechanism of ifosfamide‐induced neurotoxicity remains poorly defined. We present two pediatric cases of hemiballismic limb movements in the setting of ifosfamide‐associated encephalopathy. To our knowledge, there have been no prior reports of ifosfamide‐induced hemiballism in pediatric patients. One of our patient's encephalopathy and abnormal movements may have improved after the administration of methylene blue and thiamine. Pediatr Blood Cancer 2010;54:624–626. © 2009 Wiley‐Liss, Inc.
Fragmentation pathways of acylated flavonoid diglucuronides from leaves of Medicago truncatula
Authors: Marczak Łukasz , Stobiecki Maciej , Jasiński Michał , Oleszek Wiesław , Kachlicki Piotr 
Published: December 2009

AbstractIntroduction – Flavonoids are important plant compounds occurring in tissues mostly in the form of glycoconjugates. Most frequently the sugar moiety is comprised of mono‐ or oligosaccharides consisting of common sugars like glucose, rhamnose or galactose. In some plant species the glycosidic moiety contains glucuronic acid and may be acylated by phenylpropenoic acids.Methodology – Flavonoid glyconjugates were extracted from leaves of Medicago truncatula ecotype R108 and submitted to analysis using high‐performance liquid chromatography combined with high‐resolution tandem (quadrupole‐time of flight, QToF) mass spectrometry.Results – The studied leaf extracts contained 26 different flavonoid glycosides among which 22 compounds were flavone (apigenin, luteolin, chrysoeriol and tricin) glucuronides and 13 were acylated with aromatic acids (p‐coumaric, ferulic or sinapic). The fragmentation pathways observed in positive and negative ion mass spectra differed substantially between each other and from these of flavonoid glycosides which did not contain acidic sugars. The application of high‐resolution MS techniques allowed unequivocal differentiation between ions with the same nominal m/z values containing different substituents (e.g. ferulic acid or glucuronic acid). Eleven of the identified flavonoids have not been reported previously in this species.Perspectives – The presented unique fragmentation pathways of flavonoid glucuronates enable detection of these compounds in tissue extracts from different plant species. Copyright © 2009 John Wiley & Sons, Ltd.
Hydroxyapatite affinity chromatography for the highly selective enrichment of mono‐ and multi‐phosphorylated peptides in phosphoproteome analysis
Authors: Mamone Gianfranco , Picariello Gianluca , Ferranti Pasquale , Addeo Francesco 
Published: December 2009

AbstractThe most challenging analytical task facing phosphoproteome determination requires the isolation of phosphorylated peptides from the myriad of unphosphorylated species. In the past, several strategies for phosphopeptide isolation have been proposed in combination with subsequent mass spectrometric investigations. Among these techniques, immobilized metal affinity chromatography and titanium dioxide have been recognized as the most effective. Here, we present an alternative method for the enrichment of phosphopeptides based on hydroxyapatite (HAP) chromatography. By taking advantage of the strong interaction of HAP with phosphate and calcium ions, we developed an efficient method for the selective separation and fractionation of phosphorylated peptides. The effectiveness and efficiency of recovery for this procedure was assayed using tryptic digests of standard phosphorylated protein mixtures. Based on the higher affinity of multi‐phosphorylated peptides for HAP surfaces, the introduction of a phosphate buffer gradient for stepwise peptide elution resulted in the separation of mono‐, di‐, tri‐, and multi‐phosphorylated peptides. Thus, we demonstrated that this technique is highly selective and independent of the degree of peptide phosphorylation.
Proteomics profile of cellular response to chiral drugs: Prospects for pharmaceutical applications
Authors: Bun Ching Chi , Zhang Jianhua , Sui Jianjun , Ning Chen Wei 
Published: December 2009

AbstractChiral drugs account for a large proportion of drugs available in the market. There is increasing awareness of the importance of drug chirality and the role it plays in explaining the oftentimes dramatic differences in biological activities in the current drug development portfolio. Using recently developed chiral drugs‐cell interaction system, several examples of protein profiles induced by chiral drugs were illustrated in detail on the platform of 2‐D LC interfaced with MS/MS system. In addition, the background of chiral drug investigation from which contemporary drug chirality research has emerged, the techniques involved in proteomics technology, the application of proteomics in this exciting area, and the perspectives in future applications are also discussed.
Label‐free detection techniques for protein microarrays: Prospects, merits and challenges
Authors: Ray Sandipan , Mehta Gunjan , Srivastava Sanjeeva 
Published: December 2009

AbstractProtein microarrays, on which thousands of discrete proteins are printed, provide a valuable platform for functional analysis of the proteome. They have been widely used for biomarker discovery and to study protein–protein interactions. The accomplishments of DNA microarray technology, which had enabled massive parallel studies of gene expression, sparked great interest for the development of protein microarrays to achieve similar success at the protein level. Protein microarray detection techniques are often classified as being label‐based and label‐free. Most of the microarray applications have employed labelled detection such as fluorescent, chemiluminescent and radioactive labelling. These labelling strategies have synthetic challenges, multiple label issues and may exhibit interference with the binding site. Therefore, development of sensitive, reliable, high‐throughput, label‐free detection techniques are now attracting significant attention. Label‐free detection techniques monitor biomolecular interactions and simplify the bioassays by eliminating the need for secondary reactants. Moreover, they provide quantitative information for the binding kinetics. In this article, we will review several label‐free techniques, which offer promising applications for the protein microarrays, and discuss their prospects, merits and challenges.
Identification of candidate biomarkers with cancer‐specific glycosylation in the tissue and serum of endometrioid ovarian cancer patients by glycoproteomic analysis
Authors: Abbott Karen L. , Lim Jae‐Min , Wells Lance , Benigno Benedict B. , McDonald John F. , Pierce Michael 
Published: December 2009

AbstractEpithelial ovarian cancer is diagnosed less than 25% of the time when the cancer is confined to the ovary, leading to 5‐year survival rates of less than 30%. Therefore, there is an urgent need for early diagnostics for ovarian cancer. Our study using glycotranscriptome comparative analysis of endometrioid ovarian cancer tissue and normal ovarian tissue led to the identification of distinct differences in the transcripts of a restricted set of glycosyltransferases involved in N‐linked glycosylation. Utilizing lectins that bind to glycan structures predicted to show changes, we observed differences in lectin‐bound glycoproteins consistent with some of the transcript differences. In this study, we have extended our observations by the use of selected lectins to perform a targeted glycoproteomic analysis of ovarian cancer and normal ovarian tissues. Our results have identified several glycoproteins that display tumor‐specific glycosylation changes. We have verified these glycosylation changes on glycoproteins from tissue using immunoprecipitation followed by lectin blot detection. The glycoproteins that were verified were then analyzed further using existing microarray data obtained from benign ovarian adenomas, borderline ovarian adenocarcinomas, and malignant ovarian adenocarcinomas. The verified glycoproteins found to be expressed above control levels in the microarray data sets were then screened for tumor‐specific glycan modifications in serum from ovarian cancer patients. Results obtained from two of these glycoprotein markers, periostin and thrombospondin, have confirmed that tumor‐specific glycan changes can be used to distinguish ovarian cancer patient serum from normal serum.
Proteomic analysis of temperature stress in plants
Authors: Neilson Karlie A. , Gammulla C. Gayani , Mirzaei Mehdi , Imin Nijat , Haynes Paul A. 
Published: December 2009

AbstractIn this review we examine current approaches used for proteomic analysis of temperature stress in plants. Rapid advances in this field in recent years are discussed, including metabolic, chemical and isotopic labeling, and label‐free quantitative techniques. These are compared and contrasted with well‐established methods such as 2‐DE approaches. Examples of applications of various methods are presented, and technical difficulties and limitations of each are also considered. Results of previous studies are examined in detail, and commonly occurring temperature stress response proteins are collated. We conclude that technical advances, and improvements in genome sequence availability, will have an ever increasing impact on our understanding of molecular mechanisms of stress response in plants.
Fish proteome analysis: Model organisms and non‐sequenced species
Authors: Forné Ignasi , Abián Joaquin , Cerdà Joan 
Published: December 2009

AbstractIn the last decade, proteomic technologies have been increasingly used in fish biology research. Proteomics has been applied primarily to investigate the physiology, development biology and the impact of contaminants in fish model organisms, such as zebrafish (Danio rerio), as well as in some commercial species produced in aquaculture, mainly salmonids and cyprinids. However, the lack of previous genetic information on most fish species has been a major drawback for a more general application of the different proteomic technologies currently available. Also, many teleosts of interest in biological research and with potential application in aquaculture hold unique physiological characteristics that cannot be directly addressed from the study of small laboratory fish models. This review describes proteomic approaches that have been used to investigate diverse biological questions in model and non‐model fish species. We will also evaluate the current possibilities to integrate fish proteomics with other “omic” approaches, as well as with additional complementary techniques, in order to address the future challenges in fish biology research.
Comparative protein profiling of serum and plasma using an antibody suspension bead array approach
Authors: Schwenk Jochen M. , Igel Ulrika , Kato Bernet S. , Nicholson George , Karpe Fredrik , Uhlén Mathias , Nilsson Peter 
Published: December 2009

AbstractIn the pursuit towards a systematic analysis of human diseases, array‐based approaches within antibody proteomics offer high‐throughput strategies to discover protein biomarkers in serum and plasma. To investigate the influence of sample preparation on such discovery attempts, we report on a systematic effort to compare serum and plasma protein profiles determined with an antibody suspension bead array. The intensity levels were used to define protein profiles and no significant differences between serum and plasma were observed for 79% of the 174 antibodies (targeting 156 proteins). By excluding 36 antibodies giving rise to differential intensity levels, cluster analysis revealed donor‐specific rather than preparation‐dependent grouping. With a cohort from a clinically relevant medical condition, the metabolic syndrome, the influence of the sample type on a multiplexed biomarker discovery approach was further investigated. Independent comparisons of protein profiles in serum and plasma revealed an antibody targeting ADAMTSL‐4, a protein that would qualify to be studied further in association with the condition. In general, the preparation type had an impact on the results of the applied antibody suspension bead array, and while the technical variability was equal, plasma offered a greater biological variability and allowed to give rise to more discoveries than serum.
Effects of pH on Bacterial Inactivation in Aqueous Solutions due to Low‐Temperature Atmospheric Pressure Plasma Application
Authors: Ikawa Satoshi , Kitano Katsuhisa , Hamaguchi Satoshi 
Published: December 2009

AbstractLow‐temperature atmospheric pressure plasmas applied to the surface of an aqueous solution have been shown to be efficient bactericides for bacteria suspended in the solution, if the solution is sufficiently acidic. Especially of interest is the finding that there is a critical pH value of about 4.7 for the bactericidal effects, below which the bacteria are efficiently inactivated and above which the bacteria are hardly affected by the plasma application. It has been also found that the presence of superoxide anion radicals O• in the solution is essential for bacterial inactivation by the plasma application. Therefore, the critical pH value may arise from the pKa of the equilibrium reaction between O• and hydroperoxy radicals HOO•, which is known to be approximately 4.8. The present experiments, where plasmas are not directly applied to bacterium surfaces and it has been confirmed that neither UV light nor heat from the plasma is the cause of bacterial inactivation, suggest the importance of highly reactive species generated in the solution via plasma–liquid interaction for the bactericidal effects.
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Locally Resolved Analysis of Polymer Surface Functionalization by an Atmospheric Pressure Argon Microplasma Jet with Air Entrainment
Authors: Vogelsang Andreas , Ohl Andreas , Steffen Hartmut , Foest Rüdiger , Schröder Karsten , Weltmann Klaus‐Dieter 
Published: December 2009

AbstractLocal analysis was performed of the chemical modification of polymeric surfaces induced by an atmospheric pressure microplasma jet operated with argon and small additions of air (1%). In particular, radial profiles were determined of water contact angle measurements and of the chemical surface composition using X‐ray photoelectron spectroscopy. Special emphasis was given to the effects of air entrainment. Contact angle profiles significantly vary with treatment time. For longer treatment, the narrow primary profiles are superimposed by much wider secondary profiles of different shapes. That indicates the existence of different modification mechanisms. One possible reason for that is additional oxygen admixture to the radial afterglow. According to the analysis of nitrogen incorporation, substantial radial variations are found for the portion of gas phase oxygen and alkyl surface radicals, respectively.magnified image
Fluorine Plasma Treatments of Polypropylene Films, 1 – Surface Characterization
Authors: Kirk Seth , Strobel Mark , Lee Chi‐Ying , Pachuta Steven J. , Prokosch Michael , Lechuga Hyacinth , Jones Marvin E. , Lyons Christopher S. , Degner Scott , Yang Yang , Kushner Mark J. 
Published: December 2009

AbstractIn this work, an experimental investigation of fluorine gas (F2) plasma treatment of polypropylene (PP) film reveals the evolution of PP fluorination. Surface analysis of fluorinated PP surfaces describes a surface modification process that is initially quite rapid but slows sharply as the fluorination progresses. The fluorination reaction occurs more rapidly at the PP film surface and evidence of a treatment gradient is seen in the ESCA sampling depth of 10 nm. The increasingly fluorinated surface becomes less reactive to the plasma chemistry and develops a fully fluorinated, cross‐linked surface layer that eventually extends the full ESCA sampling depth.magnified image
High volume normal saline alone is as effective as nebulized salbutamol‐normal saline, epinephrine‐normal saline, and 3% saline in mild bronchiolitis
Authors: Anil Ayse Berna , Anil Murat , Saglam Ayse Bircan , Cetin Nevin , Bal Alkan , Aksu Nejat 
Published: December 2009

AbstractThe objective of this study was to investigate the effectivenesses of nebulized salbutamol, epinephrin, 3% saline, and normal saline (0.9% NaCl) in the treatment of mildly affected infants with acute bronchiolitis. We enrolled 186 children (mean age 9.5 ± 5.3 months, range 1.5–24 months, 65.1% male) with a first episode of wheezing diagnosed as mild bronchiolitis in emergency department. Patients were randomized in a double‐blind fashion to receive 4 ml dose either of 1.5 mg epinephrine plus normal saline (group 1; n = 38) or 1.5 mg epinephrine plus 3% saline (group 2; n = 39) or 2.5 mg salbutamol plus normal saline (group 3; n = 36) or 2.5 mg salbutamol plus 3% saline (group 4; n = 36) or normal saline alone (group 5; n = 37) at 0 and 30 min. Thus, all treatment modalities included high amount of NaCl (72–240 mg). Clinical score, oxygen saturation and heart rate were assessed at 0, 30, 60, and 120 min. After discharge, patients were reassessed by telephone contact at 48 hr and 6 months. The baseline characteristics were similar in all groups (P > 0.05). The outcome of patients at 120 min was found significantly better than the baseline values (P < 0.05). There were no significant differences between the outcome variables of the groups (P > 0.05). No adverse effects attributable to nebulized therapy were seen. In conclusion, all treatment modalities used in this study, including a total of 8 ml normal saline inhalation at 30‐min interval showed clinically significant and swift improvement in mildly affected ambulatory infants with acute bronchiolitis. Pediatr Pulmonol. 2010; 45:41–47. © 2009 Wiley‐Liss, Inc.
Mealtime problems predict outcome in clinical trial to improve nutrition in children with CF
Authors: Opipari‐Arrigan Lisa , Powers Scott W. , Quittner Alexandra L. , Stark Lori J. 
Published: December 2009

AbstractBetter growth and nutritional status is strongly associated with better pulmonary function and survival in children with CF. Behavioral intervention is an efficacious treatment approach for improving calorie intake and weight gain in children with CF; and recently has been shown to facilitate maintenance of daily energy intake at 120% of the healthy population over a 2‐year period. However, no study to date has examined factors that predict outcome with behavior intervention to promote weight gain in CF. The objectives of this study were to examine the influence of nutritional status, mealtime behavior problems, and maternal depressive symptoms on calorie intake and weight gain following participation in a randomized trial to improve nutritional status in cystic fibrosis. Sixty‐seven children, aged 4–12 years with cystic fibrosis participated in a clinical trial targeting calorie and weight increases. Participants completed baseline measures of mealtime behavior problems, maternal depression, and fat absorption, and baseline and post‐treatment caloric intake and weight. Assignment to behavioral group (R2 change = 0.17), lower frequency of mealtime behavior problems (R2 change = 0.11), and higher maternal depression (R2 change = 0.06) predicted greater calorie increase baseline to post‐treatment. Assignment to behavioral group (R2 change = 0.09), higher baseline weight (R2 change = 0.10), fat absorption (R2 change = 0.02), and lower frequency of mealtime behavior problems (R2 change = 0.06) predicted greater weight gain baseline to post‐treatment. Less frequent mealtime behavior problems led to better calorie intake and weight gain in a 9‐week clinical trial of behavior intervention and nutrition education to improve nutritional status in cystic fibrosis. The key implication from these findings is that early referral to behavioral intervention as soon as growth deficits become a concern will likely yield the best nutritional outcomes. Pediatr Pulmonol. 2010; 45:78–82. © 2009 Wiley‐Liss, Inc.