bluuebunny/crossref_metadata_2025_split huggingface dataset:
Normal overall mortality rate in Addison's disease, but young patients are at risk of premature death
Authors: Erichsen Martina M , Løvås Kristian , Fougner Kristian J , Svartberg Johan , Hauge Erik R , Bollerslev Jens , Berg Jens P , Mella Bjarne , Husebye Eystein S 
Published: November 2008

ContextPrimary adrenal insufficiency (Addison's disease) is a rare autoimmune disease. Until recently, life expectancy in Addison's disease patients was considered normal.ObjectiveTo determine the mortality rate in Addison's disease patients.Design and methodsi) Patients registered with Addison's disease in Norway during 1943–2005 were identified through search in hospital diagnosis registries. Scrutiny of the medical records provided diagnostic accuracy and age at diagnosis. ii) The patients who had died were identified from the National Directory of Residents. iii) Background mortality data were obtained from Statistics Norway, and standard mortality rate (SMR) calculated. iv) Death diagnoses were obtained from the Norwegian Death Cause Registry.ResultsTotally 811 patients with Addison's disease were identified, of whom 147 were deceased. Overall SMR was 1.15 (95% confidence intervals (CI) 0.96–1.35), similar in females (1.18 (0.92–1.44)) and males (1.10 (0.80–1.39)). Patients diagnosed before the age of 40 had significantly elevated SMR at 1.50 (95% CI 1.09–2.01), most pronounced in males (2.03 (1.19–2.86)). Acute adrenal failure was a major cause of death; infection and sudden death were more common than in the general population. The mean ages at death for females (75.7 years) and males (64.8 years) were 3.2 and 11.2 years less than the estimated life expectancy.ConclusionAddison's disease is still a potentially lethal condition, with excess mortality in acute adrenal failure, infection, and sudden death in patients diagnosed at young age. Otherwise, the prognosis is excellent for patients with Addison's disease.
A High-Density Single Nucleotide Polymorphism Map for Neurospora crassa
Authors: Lambreghts Randy , Shi Mi , Belden William J , deCaprio David , Park Danny , Henn Matthew R , Galagan James E , Baştürkmen Meray , Birren Bruce W , Sachs Matthew S , Dunlap Jay C , Loros Jennifer J 
Published: November 2008

Abstract
We report the discovery and validation of a set of single nucleotide polymorphisms (SNPs) between the reference Neurospora crassa strain Oak Ridge and the Mauriceville strain (FGSC 2555), of sufficient density to allow fine mapping of most loci. Sequencing of Mauriceville cDNAs and alignment to the completed genomic sequence of the Oak Ridge strain identified 19,087 putative SNPs. Of these, a subset was validated by cleaved amplified polymorphic sequence (CAPS), a simple and robust PCR-based assay that reliably distinguishes between SNP alleles. Experimental confirmation resulted in the development of 250 CAPS markers distributed evenly over the genome. To demonstrate the applicability of this map, we used bulked segregant analysis followed by interval mapping to locate the csp-1 mutation to a narrow region on LGI. Subsequently, we refined mapping resolution to 74 kbp by developing additional markers, resequenced the candidate gene, NCU02713.3, in the mutant background, and phenocopied the mutation by gene replacement in the WT strain. Together, these techniques demonstrate a generally applicable and straightforward approach for the isolation of novel genes from existing mutants. Data on both putative and validated SNPs are deposited in a customized public database at the Broad Institute, which encourages augmentation by community users.
Reinventing the Ames Test as a Quantitative Lab That Connects Classical and Molecular Genetics
Authors: Goodson-Gregg Nathan , De Stasio Elizabeth A 
Published: November 2008

AbstractWhile many institutions use a version of the Ames test in the undergraduate genetics laboratory, students typically are not exposed to techniques or procedures beyond qualitative analysis of phenotypic reversion, thereby seriously limiting the scope of learning. We have extended the Ames test to include both quantitative analysis of reversion frequency and molecular analysis of revertant gene sequences. By giving students a role in designing their quantitative methods and analyses, students practice and apply quantitative skills. To help students connect classical and molecular genetic concepts and techniques, we report here procedures for characterizing the molecular lesions that confer a revertant phenotype. We suggest undertaking reversion of both missense and frameshift mutants to allow a more sophisticated molecular genetic analysis. These modifications and additions broaden the educational content of the traditional Ames test teaching laboratory, while simultaneously enhancing students' skills in experimental design, quantitative analysis, and data interpretation.
Loss of the Mitochondrial Nucleoid Protein, Abf2p, Destabilizes Repetitive DNA in the Yeast Mitochondrial Genome
Authors: Sia Rey A , Carrol Stephanie , Kalifa Lidza , Hochmuth Christine , Sia Elaine A 
Published: November 2008

AbstractLoss of Abf2p, an abundant mitochondrial nucleoid-associated protein, results in increased mitochondrial frameshifts and direct-repeat mediated deletions but has no effect on the rate of mitochondrial point mutations. The instability of repeated sequences in this strain may be linked to the loss of mitochondrial DNA in abf2-Δ strains.
Cell Survival and Polarity of Drosophila Follicle Cells Require the Activity of Ecdysone Receptor B1 Isoform
Authors: Romani Patrizia , Bernardi Fabio , Hackney Jennifer , Dobens Leonard , Gargiulo Giuseppe , Cavaliere Valeria 
Published: November 2008

Abstract
Proper assembly and maintenance of epithelia are critical for normal development and homeostasis. Here, using the Drosophila ovary as a model, we identify a role for the B1 isoform of the ecdysone receptor (EcR-B1) in this process. We performed a reverse genetic analysis of EcR-B1 function during oogenesis and demonstrate that silencing of this receptor isoform causes loss of integrity and multilayering of the follicular epithelium. We show that multilayered follicle cells lack proper cell polarity with altered distribution of apical and basolateral cell polarity markers including atypical-protein kinase C (aPKC), Discs-large (Dlg), and Scribble (Scrib) and aberrant accumulation of adherens junctions and F-actin cytoskeleton. We find that the EcR-B1 isoform is required for proper follicle cell polarity both during early stages of oogenesis, when follicle cells undergo the mitotic cell cycle, and at midoogenesis when these cells stop dividing and undergo several endocycles. In addition, we show that the EcR-B1 isoform is required during early oogenesis for follicle cell survival and that disruption of its function causes apoptotic cell death induced by caspase.
Orthology, Function and Evolution of Accessory Gland Proteins in the Drosophila repleta Group
Authors: Almeida Francisca C , DeSalle Rob 
Published: November 2008

Abstract
The accessory gland proteins (Acps) of Drosophila have become a model for the study of reproductive protein evolution. A major step in the study of Acps is to identify biological causes and consequences of the observed patterns of molecular evolution by comparing species groups with different biology. Here we characterize the Acp complement of Drosophila mayaguana, a repleta group representative. Species of this group show important differences in ecology and reproduction as compared to other Drosophila. Our results show that the extremely high rates of Acp evolution previously found are likely to be ubiquitous among species of the repleta group. These evolutionary rates are considerably higher than the ones observed in other Drosophila groups' Acps. This disparity, however, is not accompanied by major differences in the estimated number of Acps or in the functional categories represented as previously suggested. Among the genes expressed in accessory glands of D. mayaguana almost half are likely products of recent duplications. This allowed us to test predictions of the neofunctionalization model for gene duplication and paralog evolution in a more or less constrained timescale. We found that positive selection is a strong force in the early divergence of these gene pairs.
Sex-Specific Splicing in Drosophila: Widespread Occurrence, Tissue Specificity and Evolutionary Conservation
Authors: Telonis-Scott Marina , Kopp Artyom , Wayne Marta L , Nuzhdin Sergey V , McIntyre Lauren M 
Published: November 2008

AbstractMany genes in eukaryotic genomes produce multiple transcripts through a variety of molecular mechanisms including alternative splicing. Alternatively spliced transcripts often encode functionally distinct proteins, indicating that gene regulation at this level makes an important contribution to organismal complexity. The multilevel splicing cascade that regulates sex determination and sex-specific development in Drosophila is a classical example of the role of alternative splicing in cell differentiation. Recent evidence suggests that a large proportion of genes in the Drosophila genome may be spliced in a sex-biased fashion, raising the possibility that alternative splicing may play a more general role in sexually dimorphic development and physiology. However, the prevalence of sex-specific splicing and the extent to which it is shared among genotypes are not fully understood. Genetic variation in the splicing of key components of the sex determination pathway is known to influence the expression of downstream target genes, suggesting that alternative splicing at other loci may also vary in functionally important ways. In this study, we used exon-specific microarrays to examine 417 multitranscript genes for evidence of sex-specific and genotype-specific splicing in 80 different genotypes of Drosophila melanogaster. Most of these loci showed sex-biased splicing, whereas genotype-specific splicing was rare. One hundred thirty-five genes showed different alternative transcript use in males vs. females. Real-time PCR analysis of 6 genes chosen to represent a broad range of biological functions showed that most sex-biased splicing occurs in the gonads. However, somatic tissues, particularly adult heads, also show evidence of sex-specific splicing. Comparison of splicing patterns at orthologous loci in seven Drosophila species shows that sexual biases in alternative exon representation are highly conserved, indicating that sex-specific splicing is an ancient feature of Drosophila biology. To investigate potential mechanisms of sex-biased splicing, we used real-time PCR to examine the expression of six known regulators of alternative splicing in males vs. females. We found that all six loci are themselves spliced sex specifically in gonads and heads, suggesting that regulatory hierarchies based on alternative splicing may be an important feature of sexual differentiation.
Recombination and Speciation: Loci Near Centromeres Are More Differentiated Than Loci Near Telomeres Between Subspecies of the European Rabbit (Oryctolagus cuniculus)
Authors: Carneiro Miguel , Ferrand Nuno , Nachman Michael W 
Published: November 2008

AbstractRecent empirical and theoretical studies suggest that regions of restricted recombination play an important role in the formation of new species. To test this idea, we studied nucleotide variation in two parapatric subspecies of the European rabbit (Oryctolagus cuniculus). We surveyed five loci near centromeres, where recombination is expected to be suppressed, and five loci near telomeres, where recombination is expected to be higher. We analyzed this multilocus data set using a divergence-with-gene flow framework and we report three main findings. First, we estimated that these subspecies diverged ∼1.8 MYA and maintained large effective population sizes (O. c. algirus Ne ≈ 1,600,000 and O. c. cuniculus Ne ≈ 780,000). Second, we rejected a strict allopatric model of divergence without gene flow; instead, high rates of gene flow were inferred in both directions. Third, we found different patterns between loci near centromeres and loci near telomeres. Loci near centromeres exhibited higher levels of linkage disequilibrium than loci near telomeres. In addition, while all loci near telomeres showed little differentiation between subspecies, three of five loci near centromeres showed strong differentiation. These results support a view of speciation in which regions of low recombination can facilitate species divergence in the presence of gene flow.
EPR Spectroscopy and Imaging of Free Radicals in Food
Authors: Levêque Philippe P. , Godechal Quentin , Gallez Bernard 
Published: November 2008

AbstractElectron Paramagnetic Resonance (EPR) is a well‐known spectroscopic and imaging technique that can detect free radicals both in vitro and non‐invasively in vivo, with high sensitivity. In food, free radicals can be generated by several commonly used industrial processes, such as radiosterilization or heat treatment. EPR spectroscopy has been widely used to detect radioinduced free radicals in food, but is limited to the measurement of the global response of a sample. EPR imaging (EPRI) allows the spin density distribution of free radicals to be mapped within objects. We investigated the possibility of acquiring 2D and 3D EPR images of the distribution of free radicals in various foodstuffs with naturally occurring or induced free radicals, including frogs' legs, tea leaves, coffee beans, and sunflower seeds.Our results demonstrated that the free radicals contained in foodstuffs give EPR signals with characteristics compatible with the acquisition of high‐quality images. Small‐size structures (e.g., frog bones, 1.0–1.5 mm width) could be delineated with accuracy. The strongest signals came from irradiated samples, but low‐intensity signals from naturally occurring free radicals could also be imaged. EPRI is likely to be used when additional information is needed about the spatial distribution of unpaired electrons. The method offers the unique ability to monitor the fate of these free radicals in biological samples and in vivo.
Redox Mapping of Biological Samples Using EPR Imaging
Authors: Kulkarni Aditi C. , Bratasz Anna , Rivera Brian , Krishna Murali C. , Kuppusamy Periannan 
Published: November 2008

AbstractUnder normal conditions, cells meticulously maintain redox homeostasis. However, under abnormal conditions, such as stress, the redox equilibrium is disturbed, leading to a threat to the cellular wellbeing. Techniques that are capable of measurement of the redox status might prove useful in the detection and treatment of adverse conditions that change the cellular redox equilibrium. Electron paramagnetic resonance (EPR) imaging is a unique non‐invasive imaging technique that is capable of redox measurements in vivo. EPR utilizes redox‐sensitive spin labels, nitroxides. These EPR‐active probes are reduced by cellular reducing agents to EPR‐inactive species (hydroxylamines). The rate of reduction, among various factors, depends on the redox status of the cell, thus providing information about the redox environment of the region of interest. This review focuses on the principle, method, and application of redox mapping to biological systems.
Magnetic Force Microscopy of an Oxygen‐Sensing Spin‐Probe
Authors: Savla Mayur , Pandian Ramasamy P. , Kuppusamy Periannan , Agarwal Gunjan 
Published: November 2008

AbstractIn the present work we provide magnetic force microscopy (MFM) analysis on particles of a paramagnetic spin‐probe lithium octa‐n‐butoxy‐naphthalo‐cyanine (LiNc‐BuO) used for EPR oximetry. We demonstrate how MFM can generate a magnetic contrast in ambient air for LiNc‐BuO particles when they assemble into structures >50 nm in size. The same sample when assembled into particles <10 nm in size failed to show contrast in MFM images. The potential for utilizing MFM to understand the magnetic signature of paramagnetic nanoparticles in biological samples is discussed.
High‐Resolution ESR Imaging of N@C60 Radicals on a Surface
Authors: Suhovoy Ekaterina , Blank Aharon 
Published: November 2008

AbstractElectron Spin Resonance Microcopy (ESRM) is an imaging method capable of observing stable free radicals in small samples with a spatial resolution of ∼1 micron. Currently this technique is pursued mainly for biological applications at room temperature and at relatively low static magnetic fields. Future progress, which involves the use of higher magnetic fields at cryogenic temperatures, could significantly improve sensitivity and resolution and thus make this method attractive to many solid‐state and physical science applications. Here we consider a possible application of ESRM to the field of quantum computing employing Endohedral Nitrogen fullerene (N@C60) molecules. In order to fully address the challenges of quantum computing, the resolution should be significantly improved to ∼10 nm and the sensitivity should approach the single spin level. In the present work we show some preliminary results conducted with diluted N@C60 samples. A 2D image of N@C60 dispersed on a surface was obtained at a field of ∼0.6 T and at room temperature. Under these conditions the current sensitivity of the ESRM system is around 107−108 spins, and due to the low enrichment factor of the N@C60 sample (∼10−6), we were able to reach image resolution of only ∼50 m̈m. Future steps that are taken in order to significantly improve resolution and sensitivity of the system are discussed. These include the use of highly concentrated samples to be measured at ∼4 K and at a field of more than 1 T, which would lead to a resolution of ∼100 nm and a sensitivity of ∼100 spins.
Integrated Microwave and Optical Scanning Probe for Magnetic Resonance Imaging
Authors: Sakran Fadi , Golosovsky Michael , Davidov Dan 
Published: November 2008

AbstractWe demonstrate a scanning microwave near‐field probe based on a slit aperture that is capable of performing spatially‐resolved magnetic resonance measurements in the frequency range of 3–90 GHz. We demonstrate local electron spin resonance (ESR), ferromagnetic resonance (FMR), and spin‐wave resonance (SWR) studies on model materials. The probe can serve as a local contactless heater as well. We demonstrate also a further application, a dual microwave/optical near‐field probe that can be useful in contactless measurements of photoconductivity and fluorescence under microwave irradiation.
Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study
Authors:   The HAPO Study Cooperative Research Group
Published: November 2008

OBJECTIVE—To examine associations of neonatal adiposity with maternal glucose levels and cord serum C-peptide in a multicenter multinational study, the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study, thereby assessing the Pederson hypothesis linking maternal glycemia and fetal hyperinsulinemia to neonatal adiposity.
RESEARCH DESIGN AND METHODS—Eligible pregnant women underwent a standard 75-g oral glucose tolerance test between 24 and 32 weeks gestation (as close to 28 weeks as possible). Neonatal anthropometrics and cord serum C-peptide were measured. Associations of maternal glucose and cord serum C-peptide with neonatal adiposity (sum of skin folds &gt;90th percentile or percent body fat &gt;90th percentile) were assessed using multiple logistic regression analyses, with adjustment for potential confounders, including maternal age, parity, BMI, mean arterial pressure, height, gestational age at delivery, and the baby's sex.
RESULTS—Among 23,316 HAPO Study participants with glucose levels blinded to caregivers, cord serum C-peptide results were available for 19,885 babies and skin fold measurements for 19,389. For measures of neonatal adiposity, there were strong statistically significant gradients across increasing levels of maternal glucose and cord serum C-peptide, which persisted after adjustment for potential confounders. In fully adjusted continuous variable models, odds ratios ranged from 1.35 to 1.44 for the two measures of adiposity for fasting, 1-h, and 2-h plasma glucose higher by 1 SD.
CONCLUSIONS—These findings confirm the link between maternal glucose and neonatal adiposity and suggest that the relationship is mediated by fetal insulin production and that the Pedersen hypothesis describes a basic biological relationship influencing fetal growth.
Determination and modelling of clinical laboratory data of healthy individuals and patients with end-stage renal failure
Authors: Papaioannou Agelos , Karamanis George , Rigas Ioannis , Spanos Thomas , Roupa Zoe 
Published: November 2008

Abstract
The analyses of 18 biochemical parameters (alanine aminotransferase, albumin, aspartate aminotransferase, calcium, cholesterol, chloride, creatinine, iron, glucose, γ- glutamyl transferase, alkaline phosphatase, phosphorus, potassium, sodium, total protein, triglycerides, uric acid, and urea nitrogen) were performed for 166 healthy individuals and 108 patients with end-stage renal failure (ESRF). The application of cluster analysis proved that there were points of similarity among all 18 biochemical parameters that formed major groups; these groups corresponded to the authors’ assumption of the existence of several overall patterns of biochemical parameters that may be termed “enzyme-specific”; “general health indicator”; “major component excretion”; “blood-specific indicator”; and “protein-specific”. These patterns also appear in the subsets of males and females that were obtained by separation of the general dataset. In addition, the performance of factor analysis similarly proved the validity of this assumption. This projection and modelling method indicated the existence of seven latent factors, which explained 70.05% of the total variance in the system for healthy individuals and more than 72% of the total variance in the system for patients with ESRF. All these results support the probability that a general health indicator could be constructed by taking into account the existing classification groups in the list of biochemical parameters.
PEDOT as an alignment layer and electrode in AFLC devices
Authors: Medialdea D.P. , Bennis N. , Cerrolaza B. , Quintana X. , Otón J.M. , Arredondo B. , Romero B. , Geday M.A. 
Published: November 2008

AbstractPEDOT [Poly (3, 4-ethylenedioxythiophene) poly (styrenesulfonate)] is a material typically used organic light emission displays (OLEDs) manufactured as a conductor, or rather, as a hole injector. In this paper, three different issues have been studied: the use of rubbed PEDOT as alignment layer, the resistivity of the applied PEDOT layers, i.e., its potential as a replacement of ITO electrodes, and the induction of asymmetry in the electro-optical response of liquid crystal cells by assembling the display with dissimilar coated aligning surfaces — PEDOT on one side and buffed nylon on the counter electrode