bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient
Authors: Morelle Alessandra , Cericatto Rodrigo , Krepischi Ana Cristina Victorino , Ruiz Itamar Romano Garcia 
Published: August 2014

Abstract

Introduction
Multiple environmental and genetic factors are involved with the development of basal cell carcinomas (BCC), as well as with breast cancers. Tumor initiation and progression are often associated with genomic instability such as aneuploidies, and gains or losses of large chromosomal segments, known as copy number alterations (CNAs). CNAs have been successfully detected using the microarray comparative genomic hybridization technique (array-CGH) at high resolution. Data thus obtained are useful to identify specific genomic aberrations, to classify tumor stages, and to stratify subgroups of patients with different prognosis and clinical behaviors.

Case description
Clinical study of a 66-year-old white female identified two primary tumors, a ductal invasive grade-II carcinoma of the breast, and one nodular BCC. Germline and tumor genomic survey utilized the 180 K array-CGH analysis to investigate chromosomal alterations.

Discussion and evaluation
Several chromosomal anomalies were detected in the breast tumor genome, including focal ~422 Kb 13q13.3 microdeletion. In the BCC, amplification of a chromosome 6 spanning the centromere region between the cytobands 6p23 and 6q12 was identified. Several 6p amplified genes correspond to families of histone and human leukocyte antigen genes, whereas some of the CNAs found in the breast tumor are uncommon. No germline CNA was detected in the normal skin of the patient at this technical resolution.

Conclusion
CNAs found in the two different tumors of the patient constitute independent events arisen in the somatic lineage. Relevant genes to both carcinogenesis and progression are to be affected by these CNAs.
Determining delayed admission to the intensive care unit for mechanically ventilated patients in the emergency department
Authors: Hung Shih-Chiang , Kung Chia-Te , Hung Chih-Wei , Liu Ber-Ming , Liu Jien-Wei , Chew Ghee , Chuang Hung-Yi , Lee Wen-Huei , Lee Tzu-Chi 
Published: August 2014

Abstract
Introduction
The adverse effects of delayed admission to the intensive care unit (ICU) have been recognized in previous studies. However, the definitions of delayed admission vary across studies. This study proposed a model to define `delayed admission’, and explored the effect of ICU waiting time on patients’ outcome.

Methods
This retrospective cohort study included nontraumatic adult patients on mechanical ventilation in the emergency department (ED), from July 2009 to June 2010. The primary outcomes measures were 21-ventilator-day mortality and prolonged hospital stays (over 30 days). Models of Cox regression and logistic regression were used for multivariate analysis. The non-delayed ICU waiting was defined as a period in which the time effect on mortality was not statistically significant in a Cox regression model. To identify a suitable cutoff point between `delayed’ and `non-delayed’ subsets from the overall data were made based on ICU waiting time and the hazard ratio of ICU waiting hour in each subset was iteratively calculated. The cutoff time was then used to evaluate the impact of delayed ICU admission on mortality and prolonged length of hospital stay.

Results
The final analysis included 1,242 patients. The time effect on mortality emerged after 4 hours, thus we deduced ICU waiting time in the ED of >4 hours as delayed. By logistic regression analysis, delayed ICU admission affected the outcomes of 21-ventilator-day mortality and prolonged hospital stay, with an odds ratio of 1.41 (95% confidence interval, 1.05 to 1.89) and 1.56 (95% confidence interval, 1.07 to 2.27) respectively.

Conclusions
For patients on mechanical ventilation in the ED, delayed ICU admission is associated with higher probability of mortality and additional resource expenditure. A benchmark waiting time of no more than 4 hours for ICU admission is recommended.
A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Authors: Lee Seong Min , Goellner Joseph J. , O'Brien Charles A. , Pike J. Wesley 
Published: August 2014

AbstractThe syndrome of hereditary 1,25-dihydroxyvitamin D–resistant rickets (HVDRR) is a genetic disease of altered mineral homeostasis due to mutations in the vitamin D receptor (VDR) gene. It is frequently, but not always, accompanied by the presence of alopecia. Mouse models that recapitulate this syndrome have been prepared through genetic deletion of the Vdr gene and are characterized by the presence of rickets and alopecia. Subsequent studies have revealed that VDR expression in hair follicle keratinocytes protects against alopecia and that this activity is independent of the protein's ability to bind 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]. In the present study, we introduced into VDR-null mice a human VDR (hVDR) bacterial artificial chromosome minigene containing a mutation that converts leucine to serine at amino acid 233 in the hVDR protein, which prevents 1,25(OH)2D3 binding. We then assessed whether this transgene recreated features of the HVDRR syndrome without alopecia. RT-PCR and Western blot analysis in one strain showed an appropriate level of mutant hVDR expression in all tissues examined including skin. The hVDR-L233S mutant failed to rescue the aberrant systemic and skeletal phenotype characteristic of the VDR null mouse due to the inability of the mutant receptor to activate transcription after treatment with 1,25(OH)2D3. Importantly, however, neither alopecia nor the dermal cysts characteristic of VDR-null mice were observed in the skin of these hVDR-L233S mutant mice. This study confirms that we have created a humanized mouse model of HVDRR without alopecia that will be useful in defining additional features of this syndrome and in identifying potential novel functions of the unoccupied VDR.
No Evidence of Ectopic Lipid Accumulation in the Pathophysiology of the Acromegalic Cardiomyopathy
Authors: Winhofer Yvonne , Wolf Peter , Krššák Martin , Wolfsberger Stefan , Tura Andrea , Pacini Giovanni , Gessl Alois , Raber Wolfgang , Kukurova Ivica Just , Kautzky-Willer Alexandra , Knosp Engelbert , Trattnig Siegfried , Krebs Michael , Luger Anton 
Published: August 2014

Context:
Patients with acromegaly frequently display disturbances of glucose and lipid metabolism, which might contribute to their increased cardiovascular risk. Because insulin resistance and increased lipolysis have been linked to ectopic lipid deposition, altered lipid accumulation in the liver and the myocardium might contribute to metabolic and cardiac complications in these patients.

Objective:
The aim of this study was to investigate myocardial (MYCL) and hepatic lipid content (HCL), insulin sensitivity, and cardiac function in active acromegaly and after control of GH excess through transsphenoidal surgery.

Patients:
Ten patients with newly diagnosed acromegaly (ACRO_active) were compared with 12 healthy controls (CON), matched for age, body mass index, and gender. In seven patients GH excess was controlled, and they were compared with their active state.

Methods:
MYCL and HCL were assessed by 1H-magnetic resonance spectroscopy, pericardial fat and cardiac function by 1H-magnetic resonance imaging, and insulin sensitivity and secretion by an oral glucose tolerance test.

Results:
Although MYCL tended to be lower, HCL was significantly lower in ACRO_active compared with CON (HCL: 1.2% ± 1.2% vs 4.3% ± 3.5% of 1H-magnetic resonance spectroscopy signal, P &lt; .02). Parameters of systolic function and hypertrophy were significantly increased in ACRO_active compared with CON, as were insulin secretion and resistance. After the control of GH excess, HCL and MYCL remained unchanged, but pericardial fat was increased in the patients in whom GH excess was controlled (from 11.6 ± 5.5 to 14.7 ± 6.2 cm2, P = .02).

Conclusion:
Acromegaly represents a unique condition characterized by low myocardial and hepatic lipid content despite decreased insulin sensitivity, hyperinsulinemia, and hyperglycemia. Hence, ectopic lipid accumulation does not appear to contribute to cardiac morbidity, and increased lipid oxidation might counteract ectopic lipid accumulation in GH excess.
“Drink Better, but Less”: The Rise of France’s Appellation System in the European Community, 1946-1976
Authors: Bohling Joseph 
Published: August 2014

Two centerpieces of French identity, wine and statism, survived Europeanization and globalization in the postwar era. In charting the rise of France’s modern wine system, the Controlled Appellation of Origin (Appellation d’Origine Contrôlée; AOC), this article explains how the wine industry and the state adjusted to economic integration. The AOC system has been commonly viewed as a protector of local traditions when, more important, it developed as an economic strategy to promote the interests of French winegrowers and the state in an increasingly globalized world. The system’s success depended on the efforts of luxury wine producers, public health advocates, and state technocrats, who all invoked the “general interest” of consumers. This article inverts our understanding of the relationship between states and market integration to show how the Common Market and the world market actually reinforced state control over French vineyards, ultimately rebranding European wine production. Terroir gained widespread currency in the context of globalization.
Deux piliers de l’identité française—le dirigisme et le vin—ont réussi à faire face à l’Européanisation et la mondialisation après la Seconde Guerre mondiale. En montrant la montée en puissance du système de l’Appellation d’origine contrôlée (AOC)—cet article explique comment la filière viticole et l’Etat s’adaptent à l’intégration des marchés. L’opinion généralement répandue est que l’AOC a été une protection des traditions locales alors que, de manière plus importante encore, elle se développe comme une stratégie pour promouvoir les intérêts de la filière et l’Etat dans une économie de plus en plus mondialisée. Cet article intervertit notre compréhension du rapport entre l’Etat et l’intégration des marchés pour démontrer comment le Marché commun européen renforce l’autorité de l’Etat sur les vignobles français, changeant finalement l’image du vin français et européen. La notion du terroir se répand dans le contexte de la mondialisation.
The relationship between cardiopulmonary size and aerobic performance in adult deer mice at high altitude
Authors: Shirkey Nicholas J. , Hammond Kimberly A. 
Published: August 2014

AbstractDeer mice (Peromyscus maniculatus sonoriensis) populations in the White Mountains of Eastern California are found across a substantial range of partial pressures of oxygen (pO2). Reduction in pO2 at high altitude can have a negative impact on aerobic performance. We studied plastic changes in organ mass and volume involved in aerobic respiration in response to acclimation to high altitude, and how those changes are matched with aerobic performance measured by VO2 max. Adult deer mice born and raised at 340 m were acclimated at either 340 m or 3800 m for a period of nine weeks. Lung volume increased by 9% in mice acclimated to high altitude. VO2 max was also significantly higher under hypoxic conditions after high altitude acclimation compared to controls. Body mass corrected residuals of VO2 max were significantly correlated with an index of cardiopulmonary size (summed standardized residuals of lung volume and heart mass) under both hypoxic and normoxic conditions. These data show that phenotypic plasticity in lung volume and heart mass plays an important role in maintaining aerobic performance under hypoxic conditions, and account for up to 55% of the variance in aerobic performance.
Electromyographic analysis of goal-directed grasping behavior in American lobster
Authors: Tomina Yusuke , Takahata Masakazu 
Published: August 2014

AbstractAnimals spontaneously initiate goal-directed behavior including foraging action based on their appetitive motivation. American lobster Homarus americanus exhibits grasping behavior with its crusher claw as feeding behavior that can be initiated after appropriate operant conditioning. In order to quantitatively characterize the goal-directed grasping behavior with a time resolution fine enough for neurophysiological analysis of its initiation and control mechanisms, we made simultaneous electromyographic (EMG) recording from grasping- and reaching- related muscles of the crusher claw while animals initiated grasping behavior. We developed an in vivo extracellular recording chamber that allowed the animal under a semi-restrained condition to perform operant reward learning of claw grasping. Three muscles in the crusher claw (propodite-dactyl closer/ opener and coxal protractor) were found to be closely associated with spontaneous grasping behavior. In spontaneous grasping, the activation of those muscles consistently preceded the grasping onset time and exhibited different activity patterns from the grasp induced by a mechanical stimulus. Furthermore, we found that the timing of coxal protractor activation was closer to the grasp onset and its activity was briefer for goal-directed grasping behavior in trained and hungry animals than for non goal-directed spontaneous grasping behavior in naive or satiated animals. It is suggested that the goal-directed grasping behavior of lobster is characterized, at least partly, by experience-dependent briefer activity of specific muscles involved in reaching action.
Train the Trainer Effectiveness Trials of Behavioral Intervention for Individuals With Autism: A Systematic Review
Authors: Shire Stephanie Yoshiko , Kasari Connie 
Published: August 2014

Abstract
This systematic review examines train the trainer (TTT) effectiveness trials of behavioral interventions for individuals with autism spectrum disorder (ASD). Published methodological quality scales were used to assess studies including participant description, research design, intervention, outcomes, and analysis. Twelve studies including 9 weak quality quasi-experimental studies, 2 single-subject experimental design studies of moderate and weak quality, and 1 high quality randomized control trial were included. Overall, author reported effect sizes and calculation of improvement rate difference for SSRDs indicate positive effects of intervention across participant outcomes including cognition, language, and autism symptoms postcommunity delivered interventions primarily based in applied behavior analysis. Effects varied by children's developmental level.
The Purported Association Between Depression, Aggression, and Self-Injury in People With Intellectual Disability: A Critical Review of the Literature
Authors: Davies Louise Ellen , Oliver Chris 
Published: August 2014

AbstractThe prevalence of depression in individuals with an intellectual disability is estimated to lie between 3% and 6%. It has been suggested that symptoms of depression in this population might be atypical and include unusual features such as challenging behavior. However, there is significant disagreement regarding the use of challenging behavior as “depressive equivalent” symptomatology. The aim of this review is to evaluate published research reporting on the association between challenging behavior, specifically aggression and self-injury, and depression in people with an intellectual disability as a first step toward evaluating whether challenging behaviors might be considered as depressive equivalent symptoms. The results of the studies identified indicated that the association between depression and aggression, and depression and self-injury are equivocal and the interpretations of the results limited by threats to validity. Based on this analysis, there is insufficient evidence to support the use of challenging behavior as a depressive equivalent symptom. Further research to examine potentially confounding variables and the association between challenging behaviour and depression using methodologically robust designs and measures is clearly warranted.
A Saturated Genetic Linkage Map of Autotetraploid Alfalfa (Medicago sativa L.) Developed Using Genotyping-by-Sequencing Is Highly Syntenous with the Medicago truncatula Genome
Authors: Li Xuehui , Wei Yanling , Acharya Ananta , Jiang Qingzhen , Kang Junmei , Brummer E Charles 
Published: August 2014

Abstract
A genetic linkage map is a valuable tool for quantitative trait locus mapping, map-based gene cloning, comparative mapping, and whole-genome assembly. Alfalfa, one of the most important forage crops in the world, is autotetraploid, allogamous, and highly heterozygous, characteristics that have impeded the construction of a high-density linkage map using traditional genetic marker systems. Using genotyping-by-sequencing (GBS), we constructed low-cost, reasonably high-density linkage maps for both maternal and paternal parental genomes of an autotetraploid alfalfa F1 population. The resulting maps contain 3591 single-nucleotide polymorphism markers on 64 linkage groups across both parents, with an average density of one marker per 1.5 and 1.0 cM for the maternal and paternal haplotype maps, respectively. Chromosome assignments were made based on homology of markers to the M. truncatula genome. Four linkage groups representing the four haplotypes of each alfalfa chromosome were assigned to each of the eight Medicago chromosomes in both the maternal and paternal parents. The alfalfa linkage groups were highly syntenous with M. truncatula, and clearly identified the known translocation between Chromosomes 4 and 8. In addition, a small inversion on Chromosome 1 was identified between M. truncatula and M. sativa. GBS enabled us to develop a saturated linkage map for alfalfa that greatly improved genome coverage relative to previous maps and that will facilitate investigation of genome structure. GBS could be used in breeding populations to accelerate molecular breeding in alfalfa.
Crossability ofTriticum urartuandTriticum monococcumWheats, Homoeologous Recombination, and Description of a Panel of Interspecific Introgression Lines
Authors: Fricano Agostino , Brandolini Andrea , Rossini Laura , Sourdille Pierre , Wunder Joerg , Effgen Sigi , Hidalgo Alyssa , Erba Daniela , Piffanelli Pietro , Salamini Francesco 
Published: August 2014

AbstractTriticum monococcum (genome Am) and T. urartu (genome Au) are diploid wheats, with the first having been domesticated in the Neolithic Era and the second being a wild species. In a germplasm collection, rare wild T. urartu lines with the presence of T. monococcum alleles were found. This stimulated our interest to develop interspecific introgression lines of T. urartu in T. monococcum, a breeding tool currently implemented in several crop species. Moreover, the experiments reported were designed to reveal the existence in nature of Am/Au intermediate forms and to clarify whether the two species are at least marginally sexually compatible. From hand-made interspecific crosses, almost-sterile F1 plants were obtained when the seed-bearing parent was T. monococcum. A high degree of fertility was, however, evident in some advanced generations, particularly when T. urartu donors were molecularly more related to T. monococcum. Analysis of the marker populations demonstrated chromosome pairing and recombination in F1 hybrid plants. Forty-six introgression lines were developed using a line of T. monococcum with several positive agronomic traits as a recurrent parent. Microsatellite markers were tested on Au and Am genomes, ordered in a T. monococcum molecular map, and used to characterize the exotic DNA fragments present in each introgression line. In a test based on 28 interspecific introgression lines, the existence of genetic variation associated with T. urartu chromosome fragments was proven for the seed content of carotenoids, lutein, β-cryptoxanthin, and zinc. The molecular state of available introgression lines is summarized.
The Alternative Oxidase AOX Does Not Rescue the Phenotype oftko25tMutant Flies
Authors: Kemppainen Kia K , Kemppainen Esko , Jacobs Howard T 
Published: August 2014

AbstractA point mutation [technical knockout25t (tko25t)] in the Drosophila gene coding for mitoribosomal protein S12 generates a phenotype of developmental delay and bang sensitivity. tko25t has been intensively studied as an animal model for human mitochondrial diseases associated with deficiency of mitochondrial protein synthesis and consequent multiple respiratory chain defects. Transgenic expression in Drosophila of the alternative oxidase (AOX) derived from Ciona intestinalis has previously been shown to mitigate the toxicity of respiratory chain inhibitors and to rescue mutant and knockdown phenotypes associated with cytochrome oxidase deficiency. We therefore tested whether AOX expression could compensate the mutant phenotype of tko25t using the GeneSwitch system to activate expression at different times in development. The developmental delay of tko25t was not mitigated by expression of AOX throughout development. AOX expression for 1 d after eclosion, or continuously throughout development, had no effect on the bang sensitivity of tko25t adults, and continued expression in adults older than 30 d also produced no amelioration of the phenotype. In contrast, transgenic expression of the yeast alternative NADH dehydrogenase Ndi1 was synthetically semi-lethal with tko25t and was lethal when combined with both AOX and tko25t. We conclude that AOX does not rescue tko25t and that the mutant phenotype is not solely due to limitations on electron flow in the respiratory chain, but rather to a more complex metabolic defect. The future therapeutic use of AOX in disorders of mitochondrial translation may thus be of limited value.
Competence for Chemical Reprogramming of Sexual Fate Correlates with an Intersexual Molecular Signature inCaenorhabditis elegans
Authors: Sorokin Elena P , Gasch Audrey P , Kimble Judith 
Published: August 2014

AbstractIn multicellular organisms, genetic programs guide cells to adopt cell fates as tissues are formed during development, maintained in adults, and repaired after injury. Here we explore how a small molecule in the environment can switch a genetic program from one fate to another. Wild-type Caenorhabditis elegans XX adult hermaphrodites make oocytes continuously, but certain mutant XX adults make sperm instead in an otherwise hermaphrodite soma. Thus, puf-8; lip-1 XX adults make only sperm, but they can be switched from sperm to oocyte production by treatment with a small-molecule MEK inhibitor. To ask whether this chemical reprogramming is common, we tested six XX sperm-only mutants, but found only one other capable of cell fate switching, fbf-1; lip-1. Therefore, reprogramming competence relies on genotype, with only certain mutants capable of responding to the MEK inhibitor with a cell fate change. To gain insight into the molecular basis of competence for chemical reprogramming, we compared polyadenylated transcriptomes of competent and noncompetent XX sperm-only mutants in the absence of the MEK inhibitor and hence in the absence of cell fate reprogramming. Despite their cellular production of sperm, competent mutants were enriched for oogenic messenger RNAs relative to mutants lacking competence for chemical reprogramming. In addition, competent mutants expressed the oocyte-specific protein RME-2, whereas those lacking competence did not. Therefore, mutants competent for reprogramming possess an intersexual molecular profile at both RNA and protein levels. We suggest that this intersexual molecular signature is diagnostic of an intermediate network state that poises the germline tissue for changing its cellular fate in response to environmental cues.