bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analyzing gene expression data in terms of gene sets: methodological issues
Authors: Goeman Jelle J. , Bühlmann Peter 
Published: February 2007

AbstractMotivation: Many statistical tests have been proposed in recent years for analyzing gene expression data in terms of gene sets, usually from Gene Ontology. These methods are based on widely different methodological assumptions. Some approaches test differential expression of each gene set against differential expression of the rest of the genes, whereas others test each gene set on its own. Also, some methods are based on a model in which the genes are the sampling units, whereas others treat the subjects as the sampling units. This article aims to clarify the assumptions behind different approaches and to indicate a preferential methodology of gene set testing.Results: We identify some crucial assumptions which are needed by the majority of methods. P-values derived from methods that use a model which takes the genes as the sampling unit are easily misinterpreted, as they are based on a statistical model that does not resemble the biological experiment actually performed. Furthermore, because these models are based on a crucial and unrealistic independence assumption between genes, the P-values derived from such methods can be wildly anti-conservative, as a simulation experiment shows. We also argue that methods that competitively test each gene set against the rest of the genes create an unnecessary rift between single gene testing and gene set testing.Contact: j.j.goeman@lumc.nl
Immunohistochemical expression of the β‐catenin‐interacting protein B9L is associated with histological high nuclear grade and immunohistochemical ErbB2/HER‐2 expression in breast cancers
Authors: Toya Hiroyuki , Oyama Tetsunari , Ohwada Susumu , Togo Nozomi , Sakamoto Ichiro , Horiguchi Jun , Koibuchi Yukio , Adachi Shungo , Jigami Takafumi , Nakajima Takashi , Akiyama Tetsu 
Published: February 2007

B9L/BCL9‐2, a novel β‐catenin‐interacting protein, plays an important role in colorectal carcinogenesis by translocating β‐catenin to the nucleus and enhancing β‐catenin–T‐cell factor‐mediated transcription. To elucidate the role of B9L in breast cancers, we studied B9L expression in ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC) of the breast immunohistochemically and compared it to the immunohistochemical expression of known proteins involved in breast carcinogenesis. In breast tissues, B9L immunoreactivity was present exclusively in the nuclei of normal and neoplastic ductal cells. In DCIS, immunohistochemical B9L expression was significantly associated with the tumor nuclear grade, comedo necrosis and the expression of ErbB2/HER‐2, c‐myc and p53. In IDC, B9L expression was correlated with ErbB2/HER‐2 expression and tumor nuclear grade only. In both DCIS and IDC, immunohistochemical B9L expression was not related to the expression of cytoplasmic β‐catenin. We demonstrated that nuclear B9L expression was closely associated with the high nuclear grade cancer phenotype and the expression of ErbB2/HER‐2 in breast cancers. (Cancer Sci 2007; 98: 484–490)
Medical aspects of ageing in a population with intellectual disability: III. Mobility, internal conditions and cancer
Authors: Evenhuis H. M. 
Published: February 2007

AbstractThe aim of this study was to assess mobility Impairment and morbidity and mortality caused by Internal conditions and cancer in an ageing population with mild to severe intellectual disability. Seventy subjects with a mean age of 70 years (range 60–92 years) at initial evaluation, were assessed during a 10‐year prospective longitudinal study. As was to be expected, there was a high prevalence of mobility impairment (30% under and 58% over age 75), similar to reports from other ageing populations with Intellectual disability, and of related conditions (chronic constipation, pulmonary function loss and urinary incontinence). Overall morbidity and mortality caused by internal disease and cancer might be comparable to that In the general ageing Dutch population, but questions concerning the specific contribution of risk factors will have to be addressed. The lack of or atypical presentation of subjective symptoms was striking. Nevertheless, autopsy outcomes showed that diagnosis in people with intellectual disability can be as accurate as In the general population, if performed actively.
Expressive pragmatic skills in pre‐school children with and without Down's syndrome: parental perceptions
Authors: Johnston F. , Stansfield J. 
Published: February 2007

AbstractParental perceptions of the pragmatic skills of six pre‐school children with Down's syndrome were compared to those of six children without cognitive impairment. Children were matched for language comprehension age on the Reynell Developmental Language Scale and parents were interviewed using the Pragmatics Profile of Early Communication Skills. Data from the parental interviews was analysed taking a qualitative approach, using the technique of content analysis. The results showed that the children with and without Down's syndrome had many isimilarities in reported behaviours and responses In addition, five out of the six children with Down's syndrome had some skills which were more advanced than their matched pairs. Possible reasons for these findings are discussed. The evidence suggests that children with Down's syndrome have a normal range of pragmatic skills and communicative intentions compared with children of similar levels of comprehension functioning at an early pre‐school level.
Prevalence and incidence of health problems in people with intellectual disability
Authors: van Schrojenstein Lantman‐de Valk H. M. J. , van den Akker M. , Maaskant M. A. , Haveman M. J. , Urlings H. F. J. , Kessels A.GH. , Crebolder H. F. J. K 
Published: February 2007

AbstractThe objective of this study was to determine the prevalence and incidence of the most frequent chronic health problems in relation to age in people with intellectual disabilities living in residential facilities in the Netherlands. A prospective cohort study was done with four data collections, each with an interval of one year. Data were collected by means of questionnaires which were completed by each person's physician. Striking results included the reported high prevalence and incidence of visual and hearing impairment, which was even more pronounced in people with Down's syndrome than in people with intellectual disability resulting from other causes. Gastrointestinal problems also appeared to have high incidence rates. Dementia was frequently reported in people with Down's syndrome aged 40 years and older. The results reflect the need for a more predictive policy which can anticipate health problems in people with intellectual disability.
The epidemiology of Alzheimer disease in intellectual disability: results and recommendations from an international conference
Authors: Zigman W. , Schupf N. , Haveman M. , Silverman W. 
Published: February 2007

AbstractAmong adults with intellectual disability, virtually everyone with Down's syndrome (DS) over the age of 40 years has neuropathology currently viewed to be consistent with a diagnosis of Alzheimer disease (AD), while other adults with intellectual disability without DS display an increased prevalence of Alzheimer‐type neuropathology after they reach the age of 65. This paper presents the results of discussions by an epidemiology workgroup, formed at an international conference convened to discuss AD among people with intellectual disability, concerning: (I) the incidence and prevalence of clinical dementia in adults with intellectual disability; (2) risk factors for the development of AD in adults with intellectual disability; and (3) a minimum data set that would be of great utility for future research on AD in adults with intellectual disability.
Autism in Down's syndrome: family history correlates
Authors: Ghaziuddin M 
Published: February 2007

AbstractAlthough the association of autism with Down's syndrome is said to be uncommon, several reports have described the co‐occurrence of the two disorders. This report describes three additional cases of Down's syndrome with autism. In all the patients, a history suggestive of the broader phenotype of autism was obtained In parents. This suggests that familial factors SFtecific to autism may play an important role even when autism complicates a known medical condition such as Down's syndrome.
Disability: the place of judgement in a world of fact*
Authors: Rioux M. H. 
Published: February 2007

AbstractWays of viewing disability, of developing research questions, of interpreting research results, of justifying research methodology, and of putting policies and programmes in place are as much about ideology as they are about fact. It is important to recognize how significant this is to research generally and to the field of intellectual disability in particular. The roots of scientific and socio‐economic justification for the allocation of research funding, and of political (or state) action based on research findings can be found in identifiable and shifting ideological frameworks. Therefore, to understand the field, it is useful to explore the social and scientific formulations of disability which underpin the research agenda, and the ways of knowing disability.
Old World—new territory: European perspectives on intellectual disability
Authors: Walsh P. N. 
Published: February 2007

AbstractPeople with intellectual disability share the mixed fortunes of the diverse countries in that they live, as well as the social and political changes that mark life in Europe at the close of the twentieth century. The European Union exerts its influence through common policies and centrally funded initiatives which promote the social and vocational integration of people with intellectual disabilities. At the same time, many countries in Central and Eastern Europe are building a new and as‐yet untested social order. This paper outlines the distinctive features of European identity. Some of the gains already achieved on behalf of Europeans with intellectual disability are presented, as well as some of the problems which continue to threaten their well‐being and inclusion. It is suggested that partnerships between countries and regions can help to chart new territory for citizens of the Old World.
Diagnosis of dementia in individuals with intellectual disability*
Authors: Aylward E. H. , Burt D. B. , Thorpe L U. , Lai F. , Dalton A. 
Published: February 2007

AbstractThe foremost impediment to progress in the understanding and treatment of dementia in adults with intellectual disability is the lack of standardized criteria and diagnostic procedures. Standardized criteria for the diagnosis of dementia in individuals with intellectual disability are proposed, and their application is discussed. In addition, procedures for determining v/hether or not
A story description task in children with Down's syndrome: lexical and morphosyntactic abilities
Authors: Fabbretti D. , Pizzuto E. , Vicari S. , Volterra V. 
Published: February 2007

AbstractA story description task was used to elicit short stories by 10 Italian children and adolescents with Down's syndrome and 10 normal children matched on mean length of utterance (MLU). Data analysis focused on a subset of lexical, morphological and syntactic aspects of language use. The results show that the subjects with Down's syndrome and their normal matches use a similar lexical repertoire. However, the two groups differ with respect to omissions of free morphemes, and some aspects of syntactic and pragmatic abilities. These data on Italian subjects corroborate and extend previous findings on other languages: despite an extensive repertoire of lexical and grammatical items, subjects with Down's syndrome seem unable to use such elements appropriately and consistently across contexts.
Classification, prevalence, prevention and rehabilitation of intellectual disability: an overview of research in the People's Republic of China
Authors: Sonnander K. , Claesson M. 
Published: February 2007

AbstractThe People's Republic of China is a developing country with all the problems and challenges that face such countries all over the world. Progress has been hampered by scarcity of resources, and a lack of relevant information and appropriate skills, as well as by the stigma traditionally attached to people with intellectual disability. The present rapid economic development has made possible further improvement and expansion of educational opportunities, and health and rehabilitation services. According to a recent census and sample surveys conducted in the People's Republic of China, the overall prevalence rate of people with disabilities was estimated to 4.9%. Thus, China has more individuals with disabilities than any other country in the world. According to these figures, the prevalence of intellectual disability in the population is × I %. For children younger than 14 years of age, the prevalence is around 2%, which accounts for 66% of all handicapped children, making it the most frequent childhood disability. Today, the existing medical facilities, and educational and social welfare organizations cannot meet the tremendous need of care and services. The problems of the large number of disabled children and adults are a major challenge for contemporary Chinese society. This paper is devoted to research pertinent to intellectual disability in China. With a few exceptions, only publications in the English language were included in this review, which makes the overview selective rather than comprehensive. Publications on classification systems and diagnostic criteria, screening methods and assessment instruments, prevalence rates, aetiology and risk factors, prevention and intervention efforts, special education, and families with children with intellectual disability are presented.
The effect of the disaster caused by the great Hanshin earthquake on people with intellectual disability
Authors: Takahashi A. , Watanabe K. , Oshima M. , Shimada H. , Ozawa A. 
Published: February 2007

AbstractThe vulnerability of people with intellectual disability when services are disrupted by a major earthquake is described. The value of an accessible register and multiple networks of support at the time of a major disaster is emphasized.
Sexual Selection on Accessory Glands, Genitalia and Protarsal Pads in the Whirligig Beetle Dineutus nigrior Roberts (Coleoptera: Gyrinidae)
Authors: Fairn Evan R. , Schulte‐Hostedde Albrecht I. , Alarie Yves 
Published: February 2007

AbstractSexual selection is a potent force in the evolution of morphology in sexually reproducing species. When large size in a trait is favored by sexual selection the trait often exhibits positive allometry. Mating behavior in whirligig beetles consists of males attempting to grasp reluctant females using enlarged protarsi (protarsal pads). Here we use allometry and a mating experiment to investigate sexual selection pressures on accessory glands, intromittant genitalia (aedeagus), and protarsal pads in males of the whirligig beetle Dineutus nigrior Roberts. Accessory gland size exhibited positive allometry and males with larger accessory glands were more likely to copulate suggesting that larger size in this trait is favored by sexual selection. Males with larger accessory glands attempted to copulate more often but did not exhibit fewer failed mating attempts before copulating. This suggests that the increased probability of mating in males with large accessory glands is due to higher mating attempt frequency and not to increased ability to overcome female resistance. The length of the aedeagus exhibited negative allometry and males with a longer aedeagus did not have increased mating success. This is consistent with stabilizing selection favoring an intermediate size in this trait. The allometric slope of the protarsal pad did not differ from isometry and males with larger protarsal pads did not have increased mating success. This suggests that larger protarsal pads are not favored by sexual selection.
Detection of the Sexual Identity of Conspecifics through Volatile Chemical Signals in a Territorial Salamander
Authors: Dantzer Benjamin J. , Jaeger Robert G. 
Published: February 2007

AbstractTerritorial red‐backed salamanders (Plethodon cinereus) have been shown to use nonvolatile chemical signals in both territorial defense and to convey a variety of information to conspecifics. We investigated whether or not red‐backed salamanders could determine the sexual identity of conspecifics through volatile chemical signals, and we explored their use in the context of territorial defense. We exposed male and female red‐backed salamanders to four experimental treatments (i.e. filter papers that had been scent marked by male or female conspecifics for 1 and 5 d) and two control treatments (i.e. unscented filter papers for 1 and 5 d tests). The focal salamanders were prevented from physically accessing the scent marked filter papers and, presumably, some of the substrate scent marks had volatile components that were detected and interpreted by the focal salamanders. Both male and female red‐backed salamanders spent significantly more time in threat displays when they were exposed to volatile chemical signals from same‐sex conspecifics than they did toward similar signals from opposite‐sex conspecifics. A similar statistical pattern was observed for the amount of chemosensory sampling exhibited by focal red‐backed salamanders. From these results, we infer that red‐backed salamanders can determine the sexual identity of conspecifics through volatile chemical signals, some of which may be used in territorial defense. Further, such airborne pheromones may influence the spatial organization of salamander territories on the forest floor.
Communal Roost Site Selection in a Neotropical Harvestman: Habitat Limitation vs. Tradition
Authors: Grether Gregory F. , Donaldson Zoe R. 
Published: February 2007

AbstractMany species have been reported to form roosting (resting, sleeping) aggregations at ‘traditional’ sites, but the alternative hypothesis that specific sites are used repeatedly because of habitat limitation is rarely tested. We studied the roosting behavior of a species of harvestman (Opiliones, Prionostemma sp.) at a lowland rainforest site in Nicaragua. Both sexes roosted by day in spiny palm trees, dispersed at dusk to forage, and rejoined aggregations just before dawn. The distribution of harvestmen among spiny palms was significantly clumped, and harvestman density did not correlate with spiny palm density. Aggregations formed repeatedly in a small subset of the available spiny palms and the same sites were used in two different years (2001, 2003). Nevertheless, the membership of aggregations was fluid; individual harvestmen were found at multiple roosts and moved up to 0.2 km per night. Translocated animals often returned to the roost where they had been released or nearby roosts but were never found at previously unused sites. The high consistency of site use but low site fidelity of individuals suggests that roost sites differed conspicuously (to the harvestmen) from sites that were not used. We found no univariate or multivariate differences between used and unused sites, however, in the characteristics of the trees or microclimate. These results conflict with the habitat limitation hypothesis but are consistent with the traditional site use hypothesis. The tradition may be mediated by a site‐labeling chemical, a mechanism that does not require individual site fidelity. We discuss these results in relation to the proposed functions of roosting aggregations.
Effect of Various Degrees of Dystocia in Dairy Cattle on Calf Viability, Milk Production, Fertility and Culling
Authors: Tenhagen B.‐A. , Helmbold A. , Heuwieser W. 
Published: February 2007

SummaryThe objective of this study was to analyse the effect of dystocia on calf viability, milk production, fertility and culling under field (farm) conditions in a retrospective case–control study. A total of 253 calvings that were attended by a veterinarian were classified into three categories: mild dystocia (MD), severe dystocia (SD) and caesarean section (CS). For every case of dystocia, a control was chosen from the same farm and matched for calving month, breed and parity. Cases and controls were compared concerning calf viability, milk production, fertility and culling. The proportion of stillbirths was significantly higher in cows with dystocia compared with their controls. However, the difference was lower in CS cows than in the other two groups. MD had no significant effects on milk production, fertility and culling. There were no obvious effects of SD on monthly test day milk production, while CS cows produced significantly less milk than their controls. Compared with controls, less SD (50.0% versus 61.6%) and CS cows (48.6% versus 70.3%) conceived until 200 days in milk and more CS cows (31.1% versus 16.2%) were culled in the same time interval. These data demonstrate the scope of economic and animal welfare opportunities associated with the reduction of dystocia by management and breeding.
Pneumonia Disease Assessment using a Slaughterhouse Lung‐Scoring Method
Authors: Ostanello F. , Dottori M. , Gusmara C. , Leotti G. , Sala V. 
Published: February 2007

SummaryThe aims of this study were the evaluation of a quantitative method for the assessment of pneumonia lesions applied to heavy‐weight slaughtered pigs, the identification of risk factors connected with the increase in the prevalence and severity of the lesions and the evaluation of a possible correlation between the presence of pneumonia lesions and the decrease in the carcass quality. The lungs of 10 041 pigs (109 slaughtered batches) coming from 91 farms located in Northern Italy were examined. Lung lesions were scored using the method developed byMadec and Kobisch (Journ. Rech. Porc. Fr.,14, 1982, 405). Before the scoring, anamnestic information regarding the farm of origin of each batch were collected. For 41 batches (3603 pigs), information about carcass quality were also collected. Pneumonia lesions were found in 59.6% of the lungs (range 3–91%), and the average batch score was 2.11 (range 0.03–7.15). We identified as farm risk factors those related to an increase in the severity of the lung lesions, the presence of breeders within the herd, the starting of a growing cycle during the winter season and the lack of vaccination programmes toMycoplasma hyopneumoniae. Moreover, we also found a statistically significant association between the increase in the mean lung score of the batch and the decrease of the carcass quality.