bluuebunny/crossref_metadata_2025_split huggingface dataset:
Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination
Authors: Curcio Michele , Fornaciari Silvia , Mariotti Maria Luciana , Chelazzi Silvia , Scatena Fabrizio , Presciuttini Silvano 
Published: March 2008

AbstractObjective:  Two missense mutations of the HFE gene, one (C282Y) being a major gene for hereditary hemochromatosis and the other (H63D) playing a minor role in this disease, are carried by different haplotypes. Among other sequence variants of HFE, IVS2+4t/c polymorphism has been reported as a possible splicing mutation or risk modifier. Our aims were to identify sequence variants possibly associated with iron overload in our population, to study the intragenic haplotypes of the HFE gene, and to evaluate the role of IVS2+4t/c in hyperferritinemia.Methods:  We screened by direct sequencing the coding sequence and intron–exon boundaries of HFE in 265 patients with hyperferritinemia and 185 subjects from the general population.Results:  Linkage disequilibrium between the three pairs of polymorphic sites was complete between H63D and C282Y, whereas all four gametic types were present for both the H63D–IVS2+4t/c and the IVS2+4t/c–C282Y site pairs. The data supported a model in which the IVS2+4t/c polymorphism was ancestral, the D63 mutation occurred on the t chromosome, and the Y282 mutation occurred on the c chromosome; after the population spread of both mutations, intragenic recombination occurred on both sides of the t/c polymorphism, generating the rare haplotypes D63‐cIVS2+4‐C282 and H63‐tIVS2+4‐Y282.Conclusions:  The IVS2+4c/t is a neutral polymorphism with regard to risk of iron overload. The presence of recombinant haplotypes on both its sides suggests a considerable evolutionary age of the two main risk alleles.
Characterization of a patient with atypical amegakaryocytic thrombocytopenia
Authors: Kanaji Sachiko , Kanaji Taisuke , Migita Masahiro , Kunishima Shinji , Kunicki Thomas J. , Okamura Takashi , Izuhara Kenji 
Published: March 2008

AbstractWe report a 6‐year‐old girl with amegakaryocytic thrombocytopenia, the first case of this rare congenital disorder not to have an MPL gene mutation. Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet‐specific proteins GPIbα, GPIbβ, and GPIIb. To explore the causes for the absence of Mpl, the entire coding resion of Jak2 and AML1 were sequenced and no mutations were identified. To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets.
Peripheral blood stem cell transplant for POEMS syndrome is associated with high rates of engraftment syndrome
Authors: Dispenzieri Angela , Lacy Martha Q. , Hayman Suzanne R. , Kumar Shaji K. , Buadi Francis , Dingli David , Litzow Mark R. , Gastineau Dennis A. , Inwards David J. , Elliott Michelle A. , Micallef Ivana N. , Ansell Stephen M. , Hogan William J. , Porrata Luis F. , Johnston Patrick A. , Afessa Bekele , Bryce Alan , Kyle Robert A. , Gertz Morie A. 
Published: March 2008

AbstractPolyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome is a devastating syndrome, characterized by peripheral neuropathy, organomegaly, endocrinopathy, monoclonal plasma cells, skin changes, papilledema, volume overload, sclerotic bone lesions, thrombocytosis and high vascular endothelial growth factor (VEGF). High‐dose chemotherapy with autologous peripheral blood stem cell transplantation (ASCT) ultimately yields excellent clinical responses, but there can be considerable peritransplant morbidity. We have treated 30 POEMS patients with ASCT at Mayo Clinic, Rochester. During transplant period, patients had high rates of fever, diarrhea, weight gain and rash (93%, 77%, 53% and 43%, respectively). Only 13% remained outpatient, and median time to discharge from hospital was transplant day 17 (range 0–175). Splenomegaly was the baseline factor that best predicted for a complicated peritransplant course. Depending on the definition used, ∼50% of patients satisfied criteria for engraftment syndrome. Earlier and more aggressive use of corticosteroids may be associated with less complicated post‐transplant courses. Median overall survival has not been reached; the treatment‐related mortality was 3%. In addition, important clinical improvements and reductions in plasma VEGF levels can occur in the absence of significant decrease in the monoclonal protein. Unraveling the mechanisms of the syndrome both in the context of ASCT and in general are challenges for the future.
The Oklahoma Thrombotic Thrombocytopenic Purpura–Hemolytic Uremic Syndrome Registry: the Swiss connection
Authors: George James N. , Kremer Hovinga Johanna A. , Terrell Deirdra R. , Vesely Sara K. , Lämmle Bernhard 
Published: March 2008

AbstractObjectives:  Thrombotic thrombocytopenic purpura (TTP) was initially described as an uncommon and usually fatal disorder. With effective treatment it is more frequently diagnosed, the clinical presentations are more diverse, and long‐term sequelae are becoming recognized.Methods:  Patient data are from The Oklahoma TTP‐hemolytic uremic syndrome (HUS) Registry, an inception cohort of 348 consecutive patients with their first episode of clinically diagnosed TTP or HUS, 1989–2006. The Registry enrolls all patients in a defined region who are diagnosed with TTP or HUS and for whom plasma exchange treatment is requested. ADAMTS13 activity has been analyzed on 235 (93%) of 254 patients since 1995 at the University of Berne, Switzerland. Patients are described by clinical categories, related to their associated conditions and clinically apparent etiologies, and by the presence of severe ADAMTS13 deficiency.Results and conclusions:  The clinical spectrum of syndromes described as TTP is variable with multiple etiologies. Advances in clinical and laboratory investigation have provided better understanding of the pathogenesis of these syndromes, their clinical evaluation and management, and their long‐term outcomes. In addition to new information about TTP, these studies provide a model for translational research to define the complete community spectrum of uncommon disorders.
Serum Aluminium Levels in Glue‐Sniffer Adolescent and in Glue Containers
Authors: Akay Cemal , Kalman Süleyman , Dündaröz Ruşen , Sayal Ahmet , Aydın Ahmet , Özkan Yalçın , Gül Hüsamettin 
Published: March 2008

Abstract:  Glue sniffing is a serious medical problem among teenagers. Various chemical substances such as toluene and benzene containing glues have been reported to be toxic. It has been demonstrated that some toxic metals such as lead are elevated in the blood of solvent‐addicted patients. Whereas aluminium is an element that has toxic effects on neurological, hematopoetic system and bone metabolism. We want to determine the serum levels of aluminium in glue‐sniffer adolescents in comparison with healthy subjects. In addition, we compared aluminium levels of different commercial glue preparations (i.e. metal and plastic containers), to determine which type of container is better for less aluminium toxicity. We measured serum levels of aluminium in 37 glue‐sniffer and 37 healthy subjects using atomic absorption spectrophotometry. The average duration of glue‐sniffer was 3.8 ± 0.8 years. We also measured aluminium levels of 10 commercial glue preparations that seven of them with metal and three with plastic containers. We found that serum levels of aluminium were 63.29 ± 13.20 ng/ml and 36.7 ± 8.60 ng/ml in glue‐sniffer and in control subjects, respectively (P < 0.001). The average aluminium level in the glues was 8.6 ± 3.24 ng/g in the preparations with metal containers, whereas 3.03 ± 0.76 ng/g with plastic containers (P < 0.001). Therefore, to decrease the incidence of aluminium toxicity in glue‐sniffers, it may be a good step to market of glue preparations in plastic instead of metal containers.
THE CRIME OF STAGING AN EFFECTIVE STRIKE AND THE ENDURING ROLE OF CRIMINAL LAW IN MODERN LABOR RELATIONS
Authors: White Ahmed A. 
Published: March 2008

This article concerns the role of criminal law in modern, post‐New Deal labor relations. I emphasize the continuing function of the criminal law in limiting basic labor rights (to organize, strike, and provoke collective bargaining) as reflected in several common practices: the prosecution of labor organizing and protest activity as crimes; the persistent use of injunctions by the courts to curtail labor rights; and the indirect use of the criminal law by the courts and the NLRB to define unfair labor practices and to limit the scope of worker protections under the labor law. I hope to show how these functions reflect both change and continuity relative to the criminal law in pre‐New Deal times.The modern criminal law's labor‐repressive functions are far less crude and overt, and administered in a far more professional fashion, than in the days when criminal conspiracy, syndicalism, and vagrancy laws, for example, were used so extensively and blatantly to undermine labor rights. And rather than simply destroying labor rights, these functions operate alongside, and are incorporated into, a body of labor law designed to protect labor rights. On the one hand, this shift has been of real benefit to labor, allowing workers and organizers much more freedom in their struggles with employers. On the other hand, I argue, modern criminal law still plays a significant role in limiting labor rights. The very factors that now ease the criminal law's impact on workers—the subtlety, professionalism, and procedural regularity with which it is applied, and its coexistence alongside a functional system of labor laws—also obscure and rationalize its real effects on labor rights, making it easier for governments to use the criminal law against labor and harder for labor activists to challenge such practices. My goal is to help unmask these functions of the criminal law with the hope that organized labor and its supporters might better work against and around them.
Characterization of a candidate locus for malaria susceptibility in human populations: a (TA)n microsatellite in the promoter region of the CYBB gene, the gp91phox subunit of the NADPH oxidase
Authors: Soares‐Souza G. B. , Tarazona‐Santos E. , Chanock S. J. 
Published: March 2008

SummaryWe have analysed the linkage disequilibrium pattern between the promoter TA microsatellite and Single Nucleotide Polymorphism (SNP) haplotypes for the CYBB gene. None of the CYBB SNPs serve as good surrogates for the microsatellite alleles, previously associated with mild malaria. Thus, the candidate (TA)n microsatellite should be directly tested in genetic epidemiology studies.
A search for cyclophilin‐A gene (PPIA) variation and its contribution to the risk of atherosclerosis and myocardial infarction
Authors: Palacín M. , Rodríguez I. , García‐Castro M. , Ortega F. , Reguero J. R. , López‐Larrea C. , Morís C. , Alvarez V. , Coto E. 
Published: March 2008

SummaryCyclophilin A is secreted by vascular smooth muscle cells in response to inflammatory stimuli, and could thus contribute to atherosclerosis. We hypothesized that the genetic variation at the cyclophilin A gene (PPIA) could affect the risk for developing atherosclerosis and myocardial infarction. This study included 250 myocardial infarction patients (all male and < 60 years; 95% are smokers). All these cases had at least one atherosclerotic diseased coronary vessel. DNA was obtained from patients and from 250 healthy controls. The variation at the PPIA gene was determined in the patients through single‐strand conformation analysis and direct sequencing of seven polymerase chain reaction fragments. Allele and genotype frequencies were compared between patients and controls. The effect of a promoter polymorphism (–11 G/C) on gene expression was in vitro analysed with luciferase‐reporter assays. We found two common polymorphisms in the PPIA promoter (–11 G/C) and the 5′ non‐translated (+36 G/A) regions. Cells transfected with luciferase‐plasmids containing the –11 G had significantly higher luciferase activity. Genotype frequencies for these polymorphisms did not differ between patients and controls. In conclusion, we reported a functional variant in the PPIA promoter. However, the PPIA variation did not significantly contribute to the risk of suffering from myocardial infarction among patients with atherosclerotic diseased vessels.
Invertebrate vectors of Phytophthora palmivora, causing black pod disease of cocoa in Ghana
Authors: EVANS H. C. 
Published: March 2008

SUMMARYEvidence is presented for the involvement of a range of invertebrates in the epidemiology of black pod disease of cocoa. Tent‐building ant species, notably Crematogaster striatula, Camponotus acvapimensis and Pheidole megacephala, are considered to contribute to vertical spread of the pathogen within the cocoa tree. The building material used in tent construction is a potential source of inoculum. Certain phytophagous invertebrates and sugar‐feeding Diptera colonize black pods in the field and may carry viable inoculum externally, on their bodies and mouthparts, or internally, in their faeces. Two species, Brachypeplus pilosellus (Coleoptera) and Chaetonerius latifemur (Diptera), stand out as important vectors because of their abundance, their habit of visiting wounded pods and their proven efficiency in transmission experiments. These vector species quickly colonize the lesions of pod‐wounding insects (mirids, pod borers) and are considered to be the main means of local and long‐distance horizontal spread of the pathogen. Radioactive tracers were extensively used to determine the movements of potential vectors.
Studies on plant growth‐regulating substances: The metabolism of indole‐3‐acetonitrile and related compounds in wheat and pea tissues
Authors: CHAMBERLAIN K. , WAIN R. L. 
Published: March 2008

SUMMARYThe plant growth‐regulating activity of a number of new indole derivatives is reported. It is shown that indole‐3‐acetonitrile (IAN) is converted to indole‐3‐carboxylic acid by metabolism within wheat and pea tissues, and the mechanism of this a‐oxidation reaction has been studied. The relevant indole compounds were synthesized and their metabolism investigated by T.L.C. techniques. N‐Methylindole‐3‐acetonitrile was also shown to be degraded by a‐oxidation in wheat and pea tissues and this was separately investigated. While no definite conclusions can be drawn, the evidence indicates that conversion of indole‐ and Af‐methylindole‐3‐acetonitriles to the corresponding indole‐3‐aldehyde‐cyanohydrins can occur. These compounds then become metabolized to the aldehydes and then to the respective indole‐3‐carboxylic acids. Indole‐ and A7‐methylindole‐3‐glyoxylic acids do not appear to be involved in the a‐oxidation reaction to any significant extent. Relevant studies on the metabolism of indole‐3‐acetaldehyde‐cyanohydrin are also described.
Effects of time of application of Ethrel on male sterility and ear emergence in wheat Triticum aestivum
Authors: HUGHES W. G. , BENNETT M. D. , BODDEN J. J. , GALANOPOULOU STELLA 
Published: March 2008

SUMMARYThe induction of male sterility in wheat by application of Ethrel at different concentrations and times was investigated in glasshouse‐grown Triticum aestivum cv. Sirius. The results obtained agree with our previous findings, that to induce full sterility, Ethrel must be applied before meiosis is initiated in the oldest florets of the ear. However, to ensure full emergence of sterilized ears, the application has to be made as close to this stage as possible using a concentration of between 1000 and 2000 ppm. Ethrel application thus shows promise as a method for detecting heterotic combinations by producing sufficient F1 seed for small‐scale field trials.
Cyclical training enhances the melanophore responses of zebrafish to background colours
Authors: Hatamoto Kenji , Shingyoji Chikako 
Published: March 2008

SummaryZebrafish respond to visual stimuli to adapt their body colour to the background. If, rather than being a simple on/off reaction to visual stimulation, the colour change involves cognitive and memory‐related processes, training fish with cyclical changes of the background would be expected to increase its ability to change colour. To test this, we developed a standardized procedure for quantifying the responses of melanophores to background changes in living adult specimens of leopard, a zebrafish mutant with spotted stripes. After training with 2‐day cyclical alternation of white and black backgrounds for over 20 days, the proportion of the melanosome‐filled area of dorsal melanophores, which was 20% on the black background before the training, increased up to 97%. In these trained fish, a rapid melanosome aggregation occurred within 10 s of the background change from black to white. The results indicate that the zebrafish melanophore responses can be modulated by learning, in which areal and speed control of melanosome movement are important for dispersion and aggregation, respectively.
Inlet Air Cooling Applied to Combined Cycle Power Plants: Influence
of Site Climate and Thermal Storage Systems
Authors: Palestra Nicola , Barigozzi Giovanna , Perdichizzi Antonio 
Published: March 2008

Abstract
The paper presents the results of an investigation on inlet air cooling systems based on cool thermal storage, applied to combined cycle power plants. Such systems provide a significant increase of electric energy production in the peak hours; the charge of the cool thermal storage is performed instead during the night time. The inlet air cooling system also allows the plant to reduce power output dependence on ambient conditions. A 127MW combined cycle power plant operating in the Italian scenario is the object of this investigation. Two different technologies for cool thermal storage have been considered: ice harvester and stratified chilled water. To evaluate the performance of the combined cycle under different operating conditions, inlet cooling systems have been simulated with an in-house developed computational code. An economical analysis has been then performed. Different plant location sites have been considered, with the purpose to weigh up the influence of climatic conditions. Finally, a parametric analysis has been carried out in order to investigate how a variation of the thermal storage size affects the combined cycle performances and the investment profitability. It was found that both cool thermal storage technologies considered perform similarly in terms of gross extra production of energy. Despite this, the ice harvester shows higher parasitic load due to chillers consumptions. Warmer climates of the plant site resulted in a greater increase in the amount of operational hours than power output augmentation; investment profitability is different as well. Results of parametric analysis showed how important the size of inlet cooling storage may be for economical results.
Prevalence of Hepatitis E Virus Infection in Children in the Northeast of Spain
Authors: Buti Maria , Plans Pere , Domínguez Angela , Jardi Rossend , Frias Francisco Rodriguez , Esteban Rafael , Salleras Luis , Plasencia Antoni 
Published: March 2008

ABSTRACT
The prevalence of immunoglobulin G (IgG) anti-hepatitis E virus (anti-HEV) antibodies was studied with a representative sample of 1,249 healthy children aged between 6 and 15 years. IgG anti-HEV antibodies were detected in 57 (4.6%) of the 1,249 samples analyzed, suggesting that some children are exposed to HEV in early childhood.
Measuring Immunoglobulin G Antibodies to Tetanus Toxin, Diphtheria Toxin, and Pertussis Toxin with Single-Antigen Enzyme-Linked Immunosorbent Assays and a Bead-Based Multiplex Assay
Authors: Reder Sabine , Riffelmann Marion , Becker Christian , Wirsing von König Carl Heinz 
Published: March 2008

ABSTRACT

Bead-based assay systems offer the possibility of measuring several specific antibodies in one sample simultaneously. This study evaluated a vaccine panel of a multianalyte system that measures antibodies to tetanus toxin, diphtheria toxin, and pertussis toxin (PT) from
Bordetella pertussis
. The antibody concentrations of human immunoglobulin G (IgG) to PT, tetanus toxin, and diphtheria toxin were measured in 123 serum pairs (total of 246 sera) from a vaccine study. The multianalyte bead assay was compared to a standardized in-house IgG- anti-PT enzyme-linked immunosorbent assay (ELISA) of the German reference laboratory for bordetellae, as well as to various commercially available ELISAs for anti-PT IgG, anti-tetanus IgG, and anti-diphtheria IgG. The results of the multiplex assay regarding the antibodies against diphtheria toxin compared favorably with a regression coefficient of 0.938 for values obtained with an ELISA from the same manufacturer used as a reference. Similarly, antibodies to tetanus toxin showed a correlation of 0.910 between the reference ELISA and the multianalyte assay. A correlation coefficient of 0.905 was found when an “in-house” IgG anti-PT and the multiplex assay were compared. Compared to single ELISA systems from two other manufacturers, the multiplex assay performed similarly well or better. The multianalyte assay system was a robust system with fast and accurate results, analyzing three parameters simultaneously in one sample. The system was well suited to quantitatively determine relevant vaccine induced antibodies compared to in-house and commercially available single-antigen ELISA systems.
Agammaglobulinemia and
Staphylococcus aureus
Botryomycosis in a Cohort of Related Sentinel Swiss Webster Mice
Authors: Bridgeford Erin C. , Fox James G. , Nambiar Prashant R. , Rogers Arlin B. 
Published: March 2008

ABSTRACT

Sentinel mouse seroconversion to infectious agents is critical for laboratory animal facility disease monitoring. We report spontaneous emergence of non-sex-linked agammaglobulinemia with B-cell deficiency and cutaneous
Staphylococcus aureus
granulomatosis (botryomycosis) in a cohort of related Swiss Webster sentinel mice. Our experience reinforces the importance of immunocompetency validation in surveillance programs.