bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients
Authors: Narumi Satoshi , Muroya Koji , Asakura Yumi , Aachi Masanori , Hasegawa Tomonobu 
Published: September 2011

Abstract

Context:
Inborn errors of thyroid hormone biosynthesis are collectively referred to as thyroid dyshormonogenesis (DH). Seven genes have been implicated in DH, including the dual oxidase 2 gene (DUOX2), the thyroglobulin gene (TG), and the thyroid peroxidase gene (TPO).

Objective:
We aimed to define the prevalence and phenotypic spectrum of DH with single gene mutations.

Subjects and Methods:
A population-based cohort of 102 patients with permanent congenital hypothyroidism was enrolled. Fourteen were diagnosed as DH and were analyzed for the seven causative genes including DUOX2, TG, and TPO. Several common mutations were screened in the remaining 88 patients. Pathogenicity of single amino acid mutations was verified in vitro.

Results:
We identified four, five, and two patients with seemingly biallelic mutations in DUOX2, TG, and TPO, respectively. We also found two patients having one heterozygous DUOX2 mutation and one uncommon single-nucleotide polymorphism (SNP) p.H678R (rs57659670, allele frequency 0.035) and another two patients with homozygous p.H678R. Expression experiments and RT-PCR revealed that p.H678R is a functional SNP with theoretical 40% loss of function, supporting a role of p.H678R in the onset of DH. As for clinical phenotypes, patients with inactive DUOX2 alleles (mutations and/or p.H678R) showed characteristic time-dependent improvement of thyroid function and morphology. All three evaluated patients had a negative result in the perchlorate test.

Conclusions:
Mutations (or a functional SNP) in DUOX2, TG, or TPO were observed in 93% (95% confidence interval = 70–99%) of DH patients. Inactive DUOX2 alleles cause a broader phenotypic spectrum than currently accepted.
Effect of yoga on menopausal symptoms
Authors: Joshi Sulabha , Khandwe Rambhau , Bapat Dinesh , Deshmukh Ujwala 
Published: September 2011

Objectives. To observe the effect of yoga on menopausal symptoms using a prospective, randomized, controlled and interventional study. Main outcome measures. Total Menopause Rating Scale (MRS) score and three subscale scores (somatovegetative, psychological and urogenital) were measured on day 1 and day 90 in the study group which performed yoga (asana, pranayam and meditation) under supervision for three months, and were compared with the control group that did not perform yoga. MRS has been designed to measure health-related quality of life of ageing women. It consists of 11 symptoms and three subscales. Results. It was observed that on day 1 the scores in both the groups were comparable. On day 90, the scores in the yoga group showed a reduction in score on all the subscales, which was statistically significant. No significant difference was noted in the control group. Conclusion. Yoga is effective in reducing menopausal symptoms and should be considered as alternative therapy for the management of menopausal symptoms.
Characterization and expression patterns of two 70-kDa heat shock protein genes in the intertidal red alga Porphyra yezoensis
Authors: Zhou Xianghong , Wang Ping , Yan Binlun , Li Xinshu , Yi Lefei 
Published: September 2011

Abstract
Thalli of Porphyra yezoensis growing in the intertidal region periodically experience diverse abiotic stresses induced by tidal cycles. To investigate the contribution of 70-kDa heat shock proteins (HSP70s) to abiotic stress tolerance in P. yezoensis thalli, we isolated the cDNAs of two HSP70 genes (designated as PyHSP70-1 and PyHSP70-2) from P. yezoensis by in silico cloning and RT-PCR amplification, and examined their relative mRNA expression levels in P. yezoensis thalli responding to various abiotic stresses using real-time quantitative PCR. The deduced amino acid sequences of the two PyHSP70s lacked signal peptides, but contained signature motifs and conserved domains of the HSP70 family. The two PyHSP70s shared high amino acid sequence similarities with cytosolic HSP70s from other algae and higher plants, and clustered together with all cytosolic HSP70s in the phylogenetic tree, indicating they belong to the cytosolic HSP70 family. Expression of the two PyHSP70 genes was induced by cold shock at 0°C and heat shocks at 20°C and 25°C, and was significantly upregulated in a dose-dependent manner. The expression patterns under heat shock, along with the absence of introns in the coding regions, demonstrate that the two PyHSP70s are inducible HSP70s. Expression of the two PyHSP70 genes was repressed by desiccation stress, suggesting that they do not play a role in tolerance to desiccation stress. The expression patterns in response to salinity stress were different between PyHSP70-1 and PyHSP70-2 genes. The expression of PyHsp70-1 was induced by a salinity of 5; however, the expression of PyHsp70-2 was induced by salinities of 35 and 45. The different expression patterns suggest that they have distinct biological tasks.
Physiological responses of Hizikia fusiformis to copper and cadmium exposure
Authors: Zhu Xifeng , Zou Dinghui , Du Hong 
Published: September 2011

Abstract
The brown macroalga Hizikia fusiformis was cultured in media with different copper (Cu) or cadmium (Cd) concentrations for 7 days; physiological indicators were measured to establish the toxic effects of Cu and Cd on this economically important seaweed. Relative growth rate of H. fusiformis was significantly reduced at Cu concentrations of ≥0.05 mg l-1 or Cd ≥4 mg l-1. Chlorophyll a and carotenoid contents increased at low Cu or Cd concentrations, but significantly decreased at 0.25 and 0.50 mg l-1 Cu. Optimal quantum yield, maximum net photosynthetic rate and apparent photosynthetic efficiency were reduced with increasing Cu or Cd concentrations. Malondialdehyde content and the superoxide dismutase activity increased under Cu or Cd stress. Catalase activity also increased at low Cu or Cd concentrations, but significantly decreased at high concentrations. Nitrate reductase activity significantly increased at 0.05 mg l-1 Cu and 4 mg l-1 Cd, but was inhibited at high Cu or Cd concentrations. Thus, both Cu and Cd were physiological stressors for H. fusiformis, with Cu being more toxic than Cd.
Heterophilic antibody interference in commercial immunoassays; a screening study using paired native and pre-blocked sera
Authors: Bolstad Nils , Warren David J. , Bjerner Johan , Kravdal Gunnhild , Schwettmann Lutz , Olsen Kari H. , Rustad Pål , Nustad Kjell 
Published: September 2011

AbstractHeterophilic antibodies are still an important source of interference in immunoassays. We have conducted a screening study for interference in a panel of commercially available assays using two sera known to contain high titer Fc-reactive heterophilic antibodies.The sera were distributed to laboratories participating in the Nordic External Quality Assessment cooperation (EQANord). Duplicate samples pre-blocked with aggregated murine monoclonal MAK33 were also supplied. Discrepancies (>50%) between the results for native and blocked samples were used to classify the tested assays as susceptible to interference. A total of 170 different assay kits covering 91 analytes were tested.We found that 21 assays, covering 19 different analytes, were susceptible to interference from the heterophilic antibodies in the two sera. Many of these are clinically and commercially important assays. Some of the false results were grossly elevated and could have been detrimental to patient care in a clinical setting.Heterophilic antibodies with Fc-reactivity remain a threat. A more widespread use of antibody fragments and aggregated immunoglobulin could potentially improve the heterophilic antibody resistance of assays intended for clinical use.
Novel paper sizing agents based on renewables. Part 5: characterization of maleated oleates by ozonolysis
Authors: Lackinger Elisabeth , Sartori Jürgen , Potthast Antje , Rosenau Thomas 
Published: September 2011

Abstract
Maleated high oleic sunflower oil (maleated SOHO, MSOHO) is a promising substitute for alkenyl succinic anhydrides (ASA) that are widely used as sizing agents for paper. The part of the MSOHO molecule that is believed to be responsible for adhesion of the molecule onto cellulose, i.e., the maleated oleic acid moiety, was separately prepared and analytically characterized. Structural analysis was completed by studies of the molecular fragments obtained upon ozonolysis. The interesting question of whether there was a preferential reactivity during the ene-reaction of maleic anhydride with oleates was answered in a way that the newly formed double bond was placed to either side with no apparent selectivity.
Ab initio study of the properties of CuAlSe2: A chalcopyrite compound
Authors: Verma U. P. , Sharma Monika , Jensen Per 
Published: September 2011

Abstract
The ground-state structural, electronic, optical and thermal properties of CuAlSe2 compound in the body centered tetragonal phase have been studied by employing the full potential linearized augmented plane wave plus local orbitals method based on the density functional theory. For the exchange-correlation effects we have adopted the local density approximation (LDA), generalized gradient approximation (GGA) due to Perdew, Burke and Ernzerhof (PBE) and Engel and Vosko (EV). At the equilibrium unit cell volume, ration of the lattice constants, c/a, has been obtained as 1.99 and the unit cell constant a
0 = 5.51Å which are well comparable with the experimental results. The energy band gap obtained using EVGGA (1.92 eV) is in good agreement in comparison to that using LDA (1.09 eV), GGA (PBE) (1.26 eV) and other earlier available data. Upper portion of the valance band is mainly composed of Cu-d and Se-p states and they are highly hybridized. The optical properties such as dielectric function, refraction, reflection, conductivity, absorption and loss of energy of CuAlSe2 are presented. The quasi Harmonic Debye model is applied to study the thermal and vibrational effects for the stable BCT CuAlSe2. Thermal parameters such as Gruneisen parameter, Debye temperature, specific heat etc have been determined as a function of pressure and temperature.
Femtosecond interferometry of molecular dynamics – the role of relative and absolute phase of two individual laser pulses
Authors: Korolkov M. V. , Weitzel Karl-Michael 
Published: September 2011

Abstract
Dynamical implications of the dissociation of a molecular ion under the influence of interferometrically generated light fields have been investigated by numerical solution of time dependent Schrödinger equations. As an example the dissociation of DCl+ ions by means of two interfering 7 fs laser pulses at 800 nm has been chosen. We demonstrate that product branching ratios D+:Cl+ can be manipulated from 10:1 to 1:10 not only by adjusting the appropriate delay time in the time-shifted two-pulse approach, but also by choosing the proper carrier envelope phase (CEP) of the two partial light fields. The effects of the phase shift related to the time shift and that of the CEP can be clearly distinguished.
Can we ever stop imaging in surgically treated and radiotherapy-naive patients with non-functioning pituitary adenoma?
Authors: Reddy Raghava , Cudlip Simon , Byrne James V , Karavitaki Niki , Wass John A H 
Published: September 2011

BackgroundNon-functioning pituitary adenomas (NFAs) are slow-growing tumours with reported re-growth rates following surgical resection alone of up to 50% at 10 years. Currently, the desired length of follow-up surveillance imaging in un-irradiated patients is unclear.AimTo clarify the timing of re-growth in patients with NFAs, treated solely by surgery without post-operative pituitary radiotherapy, and also to clarify whether continued imaging is necessary in these patients.MethodsA case note analysis of all patients who underwent surgery alone for NFA between January 1984 and December 2007 was undertaken. Patients were followed for a minimum of 1 year. Re-growth was diagnosed on the basis of radiological appearances with or without associated manifestations.ResultsOne hundred and fifty-five patients (94 males, mean age at diagnosis 57.9 (range 18.3–88) years) were included. Twenty-nine were followed up for more than 10 years. The mean follow-up following surgery was 6.1 years (median 4.3 (range 1–25.8)). Re-growth was documented in 54 (34.8%) cases and 20.4% of these cases showed relapse/re-growth 10 or more years after the initial surgery. Kaplan–Meier analysis showed relapse rates of 23.1, 46.7 and 67.9% at 5, 10 and 15 years respectively. There was a significant increase in the re-growth rates if there was either pituitary tumour remnant observed on the first post-operative scan (P≤0.001) or a younger age at initial surgery (P=0.034).ConclusionThese results suggest that patients with NFAs need to be closely monitored following surgery, particularly those with post-operative tumour remnants. With 20% of relapse occurring after 10 years, follow-up surveillance needs to be continued beyond this time.
A General Method for Calculating Likelihoods Under the Coalescent Process
Authors: Lohse K , Harrison R J , Barton N H 
Published: September 2011

Abstract
Analysis of genomic data requires an efficient way to calculate likelihoods across very large numbers of loci. We describe a general method for finding the distribution of genealogies: we allow migration between demes, splitting of demes [as in the isolation-with-migration (IM) model], and recombination between linked loci. These processes are described by a set of linear recursions for the generating function of branch lengths. Under the infinite-sites model, the probability of any configuration of mutations can be found by differentiating this generating function. Such calculations are feasible for small numbers of sampled genomes: as an example, we show how the generating function can be derived explicitly for three genes under the two-deme IM model. This derivation is done automatically, using Mathematica. Given data from a large number of unlinked and nonrecombining blocks of sequence, these results can be used to find maximum-likelihood estimates of model parameters by tabulating the probabilities of all relevant mutational configurations and then multiplying across loci. The feasibility of the method is demonstrated by applying it to simulated data and to a data set previously analyzed by Wang and Hey (2010) consisting of 26,141 loci sampled from Drosophila simulans and D. melanogaster. Our results suggest that such likelihood calculations are scalable to genomic data as long as the numbers of sampled individuals and mutations per sequence block are small.
Interfering Waves of Adaptation Promote Spatial Mixing
Authors: Martens Erik A , Hallatschek Oskar 
Published: September 2011

Abstract
A fundamental problem of asexual adaptation is that beneficial substitutions are not efficiently accumulated in large populations: Beneficial mutations often go extinct because they compete with one another in going to fixation. It has been argued that such clonal interference may have led to the evolution of sex and recombination in well-mixed populations. Here, we study clonal interference, and mechanisms of its mitigation, in an evolutionary model of spatially structured populations with uniform selection pressure. Clonal interference is much more prevalent with spatial structure than without, due to the slow wave-like spread of beneficial mutations through space. We find that the adaptation speed of asexuals saturates when the linear habitat size exceeds a characteristic interference length, which becomes shorter with smaller migration and larger mutation rate. The limiting speed is proportional to μ1/2 and μ1/3 in linear and planar habitats, respectively, where the mutational supply μ is the product of mutation rate and local population density. This scaling and the existence of a speed limit should be amenable to experimental tests as they fall far below predicted adaptation speeds for well-mixed populations (that scale as the logarithm of population size). Finally, we show that not only recombination, but also long-range migration is a highly efficient mechanism of relaxing clonal competition in structured populations. Our conservative estimates of the interference length predict prevalent clonal interference in microbial colonies and biofilms, so clonal competition should be a strong driver of both genetic and spatial mixing in those contexts.
Genetic Dissection of Salicylic Acid-Mediated Defense Signaling Networks in Arabidopsis
Authors: Ng Gina , Seabolt Savanna , Zhang Chong , Salimian Sasan , Watkins Timley A , Lu Hua 
Published: September 2011

Abstract
Properly coordinated defense signaling networks are critical for the fitness of plants. One hub of the defense networks is centered on salicylic acid (SA), which plays a key role in activating disease resistance in plants. However, while a number of genes are known to affect SA-mediated defense, relatively little is known about how these gene interact genetically with each other. Here we exploited the unique defense-sensitized Arabidopsis mutant accelerated cell death (acd) 6-1 to dissect functional relationships among key components in the SA hub. We show that while enhanced disease susceptibility (eds) 1-2 and phytoalexin deficient (pad) 4-1 suppressed acd6-1–conferred small size, cell death, and defense phenotypes, a combination of these two mutations did not incur additive suppression. This suggests that EDS1 and PAD4 act in the same signaling pathway. To further evaluate genetic interactions among SA regulators, we constructed 10 pairwise crosses in the acd6-1 background among mutants defective in: SA INDUCTION-DEFICIENT 2 for SA biosynthesis; AGD2-LIKE DEFENSE 1, EDS5, and PAD4 for SA accumulation; and NONEXPRESSOR OF PR GENES 1 for SA signaling. Systematic analysis of the triple mutants based on their suppression of acd6-1–conferred phenotypes revealed complex and interactive genetic relationships among the tested SA genes. Our results suggest a more comprehensive view of the gene networks governing SA function and provide a framework for further interrogation of the important roles of SA and possibly other signaling molecules in regulating plant disease resistance.
Rapid Mapping and Identification of Mutations inCaenorhabditis elegansby Restriction Site-Associated DNA Mapping and Genomic Interval Pull-Down Sequencing
Authors: O’Rourke Sean M , Yochem John , Connolly Amy A , Price Meredith H , Carter Luke , Lowry Joshua B , Turnbull Douglas W , Kamps-Hughes Nick , Stiffler Nicholas , Miller Michael R , Johnson Eric A , Bowerman Bruce 
Published: September 2011

AbstractForward genetic screens provide a powerful approach for inferring gene function on the basis of the phenotypes associated with mutated genes. However, determining the causal mutation by traditional mapping and candidate gene sequencing is often the rate-limiting step, especially when analyzing many mutants. We report two genomic approaches for more rapidly determining the identity of the affected genes in Caenorhabditis elegans mutants. First, we report our use of restriction site-associated DNA (RAD) polymorphism markers for rapidly mapping mutations after chemical mutagenesis and mutant isolation. Second, we describe our use of genomic interval pull-down sequencing (GIPS) to selectively capture and sequence megabase-sized portions of a mutant genome. Together, these two methods provide a rapid and cost-effective approach for positional cloning of C. elegans mutant loci, and are also applicable to other genetic model systems.
Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum
Authors: Djordjevic Ivona , Jovanovic Danica , Grujic Blagoje 
Published: September 2011

AbstractCurrarino syndrome was first described as a triad by Guido Currarino, an American radiologist in 1981. It is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele.We represent a 3 year boy with refractory constipation from birth, which had been wrongly diagnosed and treated as Hirschsprung’s disease since early childhood. The patient underwent urgent colostomy because of water intoxication due to bowel irrigation, and following investigations (CT, MRI) revealed anorectal anomaly and presacral mass compatible with Curarrino’s syndrome.Definitive operation was done with perineal approach, posterior sagittal anorectoplasty, with interval colostomy closure 2 months after perineal operation. An uncomplicated postoperative recovery ensued. The patient’s bowel habits successfully returned to normal soon after the operation. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are rectal examination, sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of Currarino syndrome families, CT scan, magnetic resonance (MR) evaluation of patient spine and pelvis and suction rectal biopsies. If the mass is a meningocele, colostomy and neurosurgical exploration should precede anoplasty due to the risk of meningitis.
Antiviral Treatment of Calves Persistently Infected with Bovine Viral Diarrhoea Virus
Authors: Newcomer Benjamin W , Marley M Shonda , Galik Patricia K , Walz Paul H , Zhang Yijing , Riddell Kay P , Dykstra Christine C , Boykin David W , Kumar Arvind , Cruz-Espindola Crisanta , Boothe Dawn M , Joiner Kellye S , Givens M Daniel 
Published: September 2011

Background: Animals persistently infected (PI) with bovine viral diarrhoea virus (BVDV) are a key source of viral propagation within and among herds. Currently, no specific therapy exists to treat PI animals. The purpose of this research was to initiate evaluation of the pharmacokinetic and safety data of a novel antiviral agent in BVDV-free calves and to assess the antiviral efficacy of the same agent in PI calves. Methods: One BVDV-free calf was treated with 2-(2-benzimidazolyl)-5-[4-(2-imidazolino)phenyl]furan dihydrochloride (DB772) once at a dose of 1.6 mg/kg intravenously and one BVDV-free calf was treated three times a day for 6 days at 9.5 mg/kg intravenously. Subsequently, four PI calves were treated intravenously with 12 mg/kg DB772 three times a day for 6 days and two PI control calves were treated with an equivalent volume of diluent only. Results: Prior to antiviral treatment, the virus isolated from each calf was susceptible to DB772 in vitro. The antiviral treatment effectively inhibited virus for 14 days in one calf and at least 3 days in three calves. Subsequent virus isolated from the three calves was resistant to DB772 in vitro. No adverse effects of DB772 administration were detected. Conclusions: Results demonstrate that DB772 administration is safe and exhibits antiviral properties in PI calves while facilitating the rapid development of viral resistance to this novel therapeutic agent.
La persistance de l'effet patrimoine lors des élections présidentielles françaises
Authors: Foucault Martial , Nadeau Richard , Lewis-Beck Michael S. 
Published: September 2011

Résumé Dans un ouvrage novateur, France de gauche, vote à droite (1981), Jacques Capdevielle et al . ont mis à jour il y a une trentaine d’années l’existence d’un « effet patrimoine » expliquant de façon significative le comportement électoral en France. Malgré la portée de ce résultat, l’étude de cette question a reçu moins d’attention par la suite. La mesure du patrimoine a occupé de moins en moins de place dans les enquêtes électorales françaises, notamment au moment des élections présidentielles de 2007. Nous démontrons dans ce texte que l’effet patrimoine est toujours aussi pertinent aujourd’hui pour expliquer le comportement électoral en France. En proposant un modèle général inspiré des travaux sur l’aversion au risque, nous montrons comment le patrimoine risqué se révèle être un puissant prédicteur du vote à droite en France sur la période 1988-2007. Ce constat montre l’intérêt de renouer avec un concept novateur de la science politique française.