bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel risk genes associated with type 1 diabetes mellitus using a genome‐wide gene‐based association analysis
Authors: Qiu Ying‐Hua , Deng Fei‐Yan , Li Min‐Jing , Lei Shu‐Feng 
Published: April 2014

AbstractAims/IntroductionType 1 diabetes mellitus is a serious disorder characterized by destruction of pancreatic β‐cells, culminating in absolute insulin deficiency. Genetic factors contribute to the susceptibility of type 1 diabetes mellitus. The aim of the present study was to identify more susceptibility genes of type 1 diabetes mellitus.Materials and MethodsWe carried out an initial gene‐based genome‐wide association study in a total of 4,075 type 1 diabetes mellitus cases and 2,604 controls by using the Gene‐based Association Test using Extended Simes procedure. Furthermore, we carried out replication studies, differential expression analysis and functional annotation clustering analysis to support the significance of the identified susceptibility genes.ResultsWe identified 452 genes associated with type 1 diabetes mellitus, even after adapting the genome‐wide threshold for significance (P < 9.05E‐04). Among these genes, 171 were newly identified for type 1 diabetes mellitus, which were ignored in single‐nucleotide polymorphism‐based association analysis and were not previously reported. We found that 53 genes have supportive evidence from replication studies and/or differential expression studies. In particular, seven genes including four non‐human leukocyte antigen (HLA) genes (RASIP1, STRN4, BCAR1 and MYL2) are replicated in at least one independent population and also differentially expressed in peripheral blood mononuclear cells or monocytes. Furthermore, the associated genes tend to enrich in immune‐related pathways or Gene Ontology project terms.ConclusionsThe present results suggest the high power of gene‐based association analysis in detecting disease‐susceptibility genes. Our findings provide more insights into the genetic basis of type 1 diabetes mellitus.
A Hybrid‐Unit Energy Input‐Output Model to Evaluate Embodied Energy and Life Cycle Emissions for China's Economy
Authors: Lindner Sören , Guan Dabo 
Published: April 2014

SummaryWe develop a hybrid‐unit energy input‐output (I/O) model with a disaggregated electricity sector for China. The model replaces primary energy rows in monetary value, namely, coal, gas, crude oil, and renewable energy, with physical flow units in order to overcome errors associated with the proportionality assumption in environmental I/O analysis models. Model development and data use are explained and compared with other approaches in the field of environmental life cycle assessment. The model is applied to evaluate the primary energy embodied in economic output to meet Chinese final consumption for the year 2007. Direct and indirect carbon dioxide emissions intensities are determined. We find that different final demand categories pose distinctive requirements on the primary energy mix. Also, a considerable amount of energy is embodied in the supply chain of secondary industries. Embodied energy and emissions are crucial to consider for policy development in China based on consumption, rather than production. Consumption‐based policies will likely play a more important role in China when per capita income levels have reached those of western countries.
Patterns of morphological variation in enamel–dentin junction and outer enamel surface of human molars
Authors: Morita Wataru , Yano Wataru , Nagaoka Tomohito , Abe Mikiko , Ohshima Hayato , Nakatsukasa Masato 
Published: April 2014

AbstractTooth crown patterning is governed by the growth and folding of the inner enamel epithelium (IEE) and the following enamel deposition forms outer enamel surface (OES). We hypothesized that overall dental crown shape and covariation structure are determined by processes that configurate shape at the enamel–dentine junction (EDJ), the developmental vestige of IEE. This this hypothesis was tested by comparing patterns of morphological variation between EDJ and OES in human permanent maxillary first molar (UM1) and deciduous second molar (um2). Using geometric morphometric methods, we described morphological variation and covariation between EDJ and OES, and evaluated the strength of two components of phenotypic variability, canalization and morphological integration, in addition to the relevant evolutionary flexibility, i.e. the ability to respond to selective pressure. The strength of covariation between EDJ and OES was greater in um2 than in UM1, and the way that multiple traits covary between EDJ and OES was different between these teeth. The variability analyses showed that EDJ had less shape variation and a higher level of morphological integration than OES, which indicated that canalization and morphological integration acted as developmental constraints. These tendencies were greater in UM1 than in um2. On the other hand, EDJ and OES had a comparable level of evolvability in these teeth. Amelogenesis could play a significant role in tooth shape and covariation structure, and its influence was not constant among teeth, which may be responsible for the differences in the rate and/or period of enamel formation.
Successful full‐term twin deliveries in heterotopic cesarean scar pregnancy in a spontaneous cycle with expectant management
Authors: Kim Mi‐La , Jun Hye Sun , Kim Joo Young , Seong Seok Ju , Cha Dong Hyun 
Published: April 2014

AbstractHeterotopic cesarean scar pregnancy (CSP) usually follows assisted reproductive technologies (ART) in women who have already delivered by cesarean section. It is extremely rare: thus far, there have been only 12 individual case reports. However, over the last 20 years, the rate of cesarean delivery has increased and ART have become more common; hence, heterotopic CSP will be more prevalent in the future. Currently available data suggest that the early selective termination of CSP by medical or surgical methods is the most reliable treatment in the hemodynamically stable heterotopic CSP women because of the serious complications of continuing the CSP. We present the first case report of heterotopic CSP in a spontaneous cycle with expectant management that resulted in full‐term twin deliveries.
Prostaglandin therapy during the proliferative phase improves pregnancy rates following frozen embryo transfer in a hormone replacement cycle
Authors: Nakagawa Koji , Ojiro Yuko , Jyuen Hiroyasu , Nishi Yayoi , Sugiyama Rie , Kuribayashi Yasushi , Sugiyama Rikikazu 
Published: April 2014

AbstractAimTo determine the efficacy of prostaglandin administration during the proliferative phase in order to improve pregnancy rates following frozen embryo transfer during a hormone replacement cycle (HRC).MethodsFrom September 2010 through March 2012, patients (n = 135) were recruited who had undergone oocyte retrieval during a stimulation cycle with clomiphene and had deferred fresh embryo transfer (ET) due to a thin uterine endometrium. All patients were less than 40 years of age and underwent thawed ET following all embryo cryopreservation, and were randomly divided into two groups for thawed ET using a conventional hormone replacement cycle with or without prostaglandin derivatives (prostaglandin or conventional group). Prostaglandin derivatives were administrated during the proliferative phase. Pregnancy and implantation rates following frozen ET were compared between the two groups.ResultsAlthough the endometrial thickness on the day of ET was similar for the prostaglandin and conventional groups, the pregnancy and implantation rates for the prostaglandin group were 40.0% and 22.0%, respectively, which was significantly higher than the rates for the conventional group (P < 0.01).ConclusionAmong patients who avoided fresh ET due to a thin endometrium, the pregnancy rate following a thawed cycle was low. However, it was improved when prostaglandin derivatives were used during the proliferative phase.
Paraneoplastic cerebellar degeneration as the first evidence of malignancy: A case report
Authors: Kumari V. Aruna , Gupta Prerna , Srivastava M. V. Padma , Kumar Lalit , Kriplani Alka , Bhatla Neerja 
Published: April 2014

AbstractParaneoplastic cerebellar degeneration (PCD) is an immune‐mediated paraneoplastic disorder affecting the cerebellum. PCD associated with ovarian malignancy is a rare occurrence with fewer than 100 cases reported in published work. PCD patients express anti‐Yo antibody, one of the anti‐onconeuronal antibodies which is most likely associated with gynecologic or breast malignancies. In this report, we present the case of a 65‐year‐old postmenopausal woman presenting with acute symptoms of PCD as a first sign of ovarian malignancy.
Rare postpartum ruptured degenerated fibroid: A case report
Authors: Tan Yiap L. , Naidu Aruku 
Published: April 2014

AbstractSpontaneous rupture of uterine fibroid is rarely encountered. We present a case of a 31‐year‐old who presented with acute abdominal pain at 9 weeks postpartum. On examination, the abdomen had diffuse tenderness, with rebound tenderness in the suprapubic area and in both iliac fossae. On ultrasonography, a 12.7 × 8.6 × 8.9‐cm sized hyperechoic mass was visible on the posterior wall of the uterus. A large amount of fluid was visible in the paracolic gutters and the Pouch of Douglas (POD). The patient underwent an exploratory laparotomy. A ruptured, cystic degenerated uterine fibroid with active bleeding was found, as well as approximately half a liter of free, bloodstained peritoneal fluid and pus. Myomectomy was performed, followed by evacuation of the fluid and clots. The patient's postoperative course was uneventful. In conclusion, preoperative diagnosis of a perforated, uterine fibroid with spontaneous intra‐abdominal hemorrhage is difficult; exploratory laparotomy is both diagnostic and therapeutic in this rare, life‐threatening condition.
Association of interleukin‐1 gene variations with moderate to severe chronic periodontitis in multiple ethnicities
Authors: Wu X. , Offenbacher S. , Lόpez N. J. , Chen D. , Wang H.‐Y. , Rogus J. , Zhou J. , Beck J. , Jiang S. , Bao X. , Wilkins L. , Doucette‐Stamm L. , Kornman K. 
Published: April 2014

Background and ObjectiveGenetic markers associated with disease are often non‐functional and generally tag one or more functional “causative” variants in linkage disequilibrium. Markers may not show tight linkage to the causative variants across multiple ethnicities due to evolutionary divergence, and therefore may not be informative across different population groups. Validated markers of disease suggest causative variants exist in the gene and, if the causative variants can be identified, it is reasonable to hypothesize that such variants will be informative across diverse populations. The aim of this study was to test that hypothesis using functional Interleukin‐1 (IL‐1) gene variations across multiple ethnic populations to replace the non‐functional markers originally associated with chronic adult periodontitis in Caucasians.Material and MethodsAdult chronic periodontitis cases and controls from four ethnic groups (Caucasians, African Americans, Hispanics and Asians) were recruited in the USA, Chile and China. Genotypes of IL1B gene single nucleotide polymorphisms (SNPs), including three functional SNPs (rs16944, rs1143623, rs4848306) in the promoter and one intronic SNP (rs1143633), were determined using a single base extension method or TaqMan 5′ nuclease assay. Logistic regression and other statistical analyses were used to examine the association between moderate to severe periodontitis and IL1B gene variations, including SNPs, haplotypes and composite genotypes. Genotype patterns associated with disease in the discovery study were then evaluated in independent validation studies.ResultsSignificant associations were identified in the discovery study, consisting of Caucasians and African Americans, between moderate to severe adult chronic periodontitis and functional variations in the IL1B gene, including a pattern of four IL1B SNPs (OR = 1.87, p < 0.0001). The association between the disease and this IL1B composite genotype pattern was validated in two additional studies consisting of Hispanics (OR = 1.95, p = 0.04) or Asians (OR = 3.27, p = 0.01). A meta‐analysis of the three populations supported the association between the IL‐1 genotype pattern and moderate to severe periodontitis (OR 1.95; p < 0.001). Our analysis also demonstrated that IL1B gene variations had added value to conventional risk factors in predicting chronic periodontitis.ConclusionThis study validated the influence of IL‐1 genetic factors on the severity of chronic periodontitis in four different ethnicities.
Phylogenetic relationships in Leymus (Triticeae; Poaceae): Evidence from chloroplast trnH‐psbA and mitochondrial coxII intron sequences
Authors: SHA Li‐Na , FAN Xing , ZHANG Hai‐Qin , KANG Hou‐Yang , WANG Yi , WANG Xiao‐Li , ZHANG Li , DING Chun‐Bang , YANG Rui‐Wu , ZHOU Yong‐Hong 
Published: April 2014

AbstractLeymus Hochst. is a polyploid genus with a diverse array of morphology, cytology, ecology, and distribution in Triticeae. To investigate the phylogenetic relationships and maternal genome donor of polyploid Leymus, the chloroplast trnH‐psbA region and mitochondrial coxII intron sequences of 33 Leymus taxa were analyzed with those of 36 diploid perennial species representing 19 basic genomes in Triticeae. The results showed that reticulate evolution occurred in Leymus species, with the cytoplasmic lineage of Leymus contributed by different progenitors. Interspecific relationships of Leymus were also elucidated on the basis of orthologous comparison. Our data suggested that: (i) due to incomplete lineage sorting and/or difference in the pattern of chloroplast and mitochondrial inheritance, the genealogical conflict between the two genealogical patterns suggest the contribution of Psathyrostachys Nevski, Agropyron J. Gaertn, Eremopyrum (Ledeb.) Jaub. & Spach, Pseudoroegneria (Nevski) Á. Löve, Thinopyrum Á. Löve, and Lophopyrum (Host) Á. Löve to the cytoplasmic lineage of Leymus; (ii) there is a close relationship among Leymus species from the same area or neighboring geographic regions; (iii) L. coreanus (Honda) K. B. Jensen & R. R.‐C. Wang, L. duthiei (Stapf) Y. H. Zhou & H. Q. Zhang ex C. Yen, J. L. Yang & B. R. Baum, L. duthiei var. longearistatus (Hack.) Y. H. Zhou & H. Q. Zhang ex C. Yen, J. L. Yang & B. R. Baum, and L. komarovii (Roshev.) C. Yen, J. L. Yang & B. R. Baum are closely related to other Leymus species, and it is reasonable to transfer these species from the genus Hystrix Moench to Leymus; (iv) Leymus species from North America are closely related to L. coreanus from the Russian Far East and L. komarovii from northeast China but are evolutionarily distinct from Leymus species from Central Asia and the Qinghai–Tibet Plateau. The occurrence of multiple origin and introgression could account for the rich diversity and ecological adaptation of Leymus species.
On Learning New Primitives in the Language of Thought: Reply to Rey
Authors: CAREY SUSAN 
Published: April 2014

AbstractA theory of conceptual development must provide an account of the innate representational repertoire, must characterize how these initial representations differ from the adult state, and must provide an account of the processes that transform the initial into mature representations. In Carey, 2009 (The Origin of Concepts), I defend three theses: 1) the initial state includes rich conceptual representations, 2) nonetheless, there are radical discontinuities between early and later developing conceptual systems, 3) Quinean bootstrapping is one learning mechanism that underlies the creation of new representational resources, enabling such discontinuity. I also claim that the theory of conceptual development developed inThe Origin of Conceptsaddresses two of Fodor's challenges to cognitive science; namely, to show how learning could possibly lead to an increase in expressive power and to defeat Mad Dog Nativism, the thesis that all concepts lexicalized as mono‐morphemic words are innate. A recent article by Georges Rey (Mind & Language, 29.2, 2014) argues that my responses to Fodor's challenges fail, because, he says, I fail to distinguish concept possession from manifestation and I do not confront Goodman's new riddle of induction. My response is to show that, and how, new primitives in a language of thought can be learned, that there are easy routes and hard ones to doing so, and that characterizing the learning mechanisms involved is the key to understanding both concept possession and constraints on induction.
Meaning and Mindreading
Authors: ROBERT THOMPSON J. 
Published: April 2014

AbstractIn this article, I defend Neo‐Gricean accounts of language and communication from an objection about linguistic development. According to this objection, children are incapable of understanding the minds of others in the way that Neo‐Gricean accounts require until long after they learn the meanings of words, are able to produce meaningful utterances, and understand the meaningful utterances of others. In answering this challenge, I outline exactly what sorts of psychological states are required by Neo‐Gricean accounts and conclude that there is sufficient evidence that these types of psychological states are present in and capable of being understood by the children in question.
Scientific Inference and Ordinary Cognition: Fodor on Holism and Cognitive Architecture
Authors: FULLER TIM , SAMUELS RICHARD 
Published: April 2014

AbstractDo accounts of scientific theory formation and revision have implications for theories of everyday cognition? We maintain that failing to distinguish between importantly different types of theories of scientific inference has led to fundamental misunderstandings of the relationship between science and everyday cognition. In this article, we focus on one influential manifestation of this phenomenon which is found in Fodor's well‐known critique of theories of cognitive architecture. We argue that in developing his critique, Fodor confounds a variety of distinct claims about the holistic nature of scientific inference. Having done so, we outline more promising relations that hold between theories of scientific inference and ordinary cognition.
Unpleasantness, Motivational Oomph, and Painfulness
Authors: CORNS JENNIFER 
Published: April 2014

AbstractPainful pains are, paradigmatically, unpleasant and motivating. The dominant view amongst philosophers and pain scientists is that these two features are essentially related and sufficient for painfulness. In this article, I first offer scientifically informed characterizations of both unpleasantness and motivational oomph and argue against other extant accounts. I then draw on folk‐characterized cases and current neurobiological and neurobehavioral evidence to argue that both dominant positions are mistaken. Unpleasantness and motivational oomph doubly dissociate and, even taken together, are insufficient for painfulness.
Assessment of genetic structure among eastern North Pacific gray whales on their feeding grounds
Authors: Lang Aimée R. , Calambokidis John , Scordino Jonathan , Pease Victoria L. , Klimek Amber , Burkanov Vladimir N. , Gearin Pat , Litovka Dennis I. , Robertson Kelly M. , Mate Bruce R. , Jacobsen Jeff K. , Taylor Barbara L. 
Published: April 2014

AbstractAlthough most eastern North Pacific (ENP) gray whales feed in the Bering, Beaufort, and Chukchi Seas during summer and fall, a small number of individuals, referred to as the Pacific Coast Feeding Group (PCFG), show intra‐ and interseasonal fidelity to feeding areas from northern California through southeastern Alaska. We used both mitochondrial DNA (mtDNA) and 12 microsatellite markers to assess whether stock structure exists among feeding grounds used by ENP gray whales. Significant mtDNA differentiation was found when samples representing the PCFG (n= 71) were compared with samples (n= 103) collected from animals feeding further north (FST= 0.012, P= 0.0045). No significant nuclear differences were detected. These results indicate that matrilineal fidelity plays a role in creating structure among feeding grounds but suggests that individuals from different feeding areas may interbreed. Haplotype diversities were similar between strata (hPCFG= 0.945,hNorthern= 0.952), which, in combination with the low level of mtDNA differentiation identified, suggested that some immigration into the PCFG could be occurring. These results are important in evaluating the management of ENP gray whales, especially in light of the Makah Tribe's proposal to resume whaling in an area of the Washington coast utilized by both PCFG and migrating whales.
Freshwater geographies: Prospects for an engaged institutional project?
Authors: Tadaki Marc , Fuller Ian C. 
Published: April 2014

AbstractFreshwater is increasingly a matter of concern in research, policy and public spheres in New Zealand. Geographers have made diverse and powerful contributions to understanding and performing multiple meanings of water in place. This special issue explores some geographical dimensions to the present political moment around freshwater in New Zealand. Prospects for further explicitly geographical contributions to freshwater discussions are manifold but need to be developed within a coherent value proposition and must be situated within the diversely composed networks of practice in which geographers are embedded.
The association between miR‐499a polymorphism and oral squamous cell carcinoma progression
Authors: Hou Y‐Y , Lee J‐H , Chen H‐C , Yang C‐M , Huang S‐J , Liou H‐H , Chi C‐C , Tsai K‐W , Ger L‐P 
Published: April 2014

ObjectiveTo investigate the association of miR‐499a genetic polymorphism with the risk of oral leukoplakia, oral submucous fibrosis (OSF), oral squamous cell carcinoma (OSCC), and clinicopathological outcomes of OSCC.MethodsThe genotyping of miR‐499a T>C (rs3746444) using TagMan assay was conducted in two case‐control studies of 1549 subjects. miR‐499a‐5p and miR‐499a‐3p were assayed using stem‐loop RT‐PCR for 63 paired OSCC and adjacent normal tissues.ResultsT/C+C/C genotypes [adjusted odds ratio (AOR) 1.84, P = 0.032] and C allelic type (AOR 1.91, P = 0.007) at miR‐499a T>C were associated with an increased risk of BQ‐related OSF as compared to those with T/T genotype or T allelic type, respectively. Conversely, T/C+C/C genotypes and C allelic type decreased the risk of OSCC, especially for non‐BQ‐related OSCC (for genotype: AOR 0.49, P = 0.010; for allelic type: AOR 0.50, P = 0.007). Additionally, downregulation of miR‐499a‐5p was found in OSCC tissues (P = 0.001) and correlated with the TT genotype (P = 0.001).ConclusionThe T/C+C/C genotypes of MiR‐499a may contribute to an increased risk of BQ‐related OSF, but a decreased risk of OSCC. miR‐499a T>C influences the expression levels of miR‐499a‐5p during the tumorigenesis of OSCC.