bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and Molecular Data on Mental Retardation in Bulgaria
Authors: Todorov T , Todorova A , Avdjieva D , Dimova P , Angelova L , Tincheva R , Mitev V 
Published: January 2011

Clinical and Molecular Data on Mental Retardation in BulgariaMental retardation (MR) is clinically and genetically highly heterogeneous. We have done molecular genetic testing on 85 Bulgarian MR patients who were clinically classed as fragile X syndrome (FXS) (n = 32), Rett syndrome (RTT) (n = 36) and Prader-Willi/Angelman syndromes (PWS/AS) (n = 17). We tested for the fragile X MR 1 (FMR1), methyl-CpG binding protein 2 (MECP2), cyclin dependent kinase-like 5 (CDKL5), and Aristaless X (ARX) genes, and did methylation analyses of exon 1 of the small nuclear ribonucleoprotein polypeptide N (SNRPN), and multiplex ligation-dependent probe amplification (MLPA) analyses for large deletions/duplications, and for the methylation status of FMR1 and SNRPN genes. In the FXS group we only found four mutations in the FMR1 gene (12.5%). In the RTT group we found nine mutations in the MECP2 gene (25.0%) but no CDKL5 gene mutations. In the PWS/AS group we found nine mutations in the 15q11-q13 region (53%). Thus, we clarified the molecular basis in 26.0% of the patients. The proportion of genetically proved diagnoses in our RTT patients (25.0%) is relatively high and all these cases are due to MECP2 mutations. Despite the type of mutation, all these cases are very similar from the clinical point of view and well recognized in Bulgaria.
Clinical Manifestations of Partial Trisomy 4p
Authors: Demirhan O , Özgünen F , Taştemir D 
Published: January 2011

Clinical Manifestations of Partial Trisomy 4pWe made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.
Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report
Authors: Bove M , Carnevali L , Cicero A , Tarugi P , Gaddi A 
Published: January 2011

Novel Mutation in theApobGene (Apo B-15.56): A Case ReportFamilial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c) or apolipoprotein B (Apo-B) equal to or less than the 5thpercentile for the population. We describe a 48-year-old male who presented with fatty liver disease (FLD), insulin resistance (IR), obesity and hypertension. Our patient thus met the latest diagnostic criteria of the metabolic syndrome (MS) proposed by the Adult Treatment Panel and the International Diabetes Federation. However, he had very low plasma concentration of LDL-c and Apo-B. DNA sequencing showed that he and two first-degree relatives affected by obesity and mild IR were heterozygous for a single nucleotide deletion on exon 15 of theAPOBgene, which was predicted to form a truncated Apo-B designated Apo B-15.56.
XYY Karyotype in a Mentally Retarded Man with Prognathism and Malformation of His Hands and Toe Nails
Authors: Mahjoubi F , Akbary M , Shafegatee Y 
Published: January 2011

XYY Karyotype in a Mentally Retarded Man with Prognathism and Malformation of His Hands and Toe NailsWe report on a 25-year-old man who was referred for evaluation of possible Fragile X syndrome on the basis of mild mental retardation and malformation of his hands and toe nails. He was found not to have this syndrome but to have a 47, XYY karyotype. Only one other case of XYY syndrome with prognathism and malformation of hands has been reported.
Peat humification character in two ombrotrophic bogs depending on peat properties
Authors: Silamiķele Inese , Nikodemus Oļgerts , Kalniņa Laimdota , Purmalis Oskars , Kļaviņš Māris 
Published: January 2011

Peat humification character in two ombrotrophic bogs depending on peat properties
Study of the living organic matter humification process is essential for understanding of the carbon biogeochemical cycle. The aim of this study is to determine the relations between peat properties and humification degree in two peat profiles in ombrotrophic bogs in Latvia, to identify the links between peat age, decomposition degree, peat properties, peat botanical composition and peat properties. The peat diagenesis process was described using multiproxy analysis of peat age, botanical composition, elemental composition, elemental ratios of the peat organic matter and peat alkaline extracts. This approach supports a better understanding of the peat properties and their relation both to peat decomposition processes, and also to original living organic matter. Multiproxy study of peat properties supports development of peat humification indicators.
Reuse in Software Development Organizations in Latvia
Authors: Kotov Vladimir 
Published: January 2011

Reuse in Software Development Organizations in Latvia
The paper presents the results of a survey, which aims to investigate the field of software reuse in software development organizations in Latvia. The topic has a particular significance since reuse may provide some economic benefits by reducing software development and operating costs, and by efficient utilization of development knowledge and corporate expertise. The objective of the study is to identify the key factors to be considered by the companies interested in establishing a software reuse program, thus improving time-to-market, costs and quality of software products by ingraining reuse into the entire software development process. Twenty factors organized into four categories were considered important within the framework of the survey. The results were obtained through the questionnaire involving software organizations in Latvia, whose responses were analyzed and used to relate the characteristics of organizations with their reuse experience. As a result, the influence of the selected factors on the success of the reuse is evaluated using four different levels (strong, weak, none, no data). Additionally, the paper includes review of related researches and comparison of the results. In conclusion, the author provides suggestions for the improvement of the reuse in Latvian software development organizations on the basis of the survey.
Decision Tree Classifiers in Bioinformatics
Authors: Polaka Inese , Tom Igor , Borisov Arkady 
Published: January 2011

Decision Tree Classifiers in BioinformaticsThis paper presents a literature review of articles related to the use of decision tree classifiers in gene microarray data analysis published in the last ten years. The main focus is on researches solving the cancer classification problem using single decision tree classifiers (algorithms C4.5 and CART) and decision tree forests (e.g. random forests) showing strengths and weaknesses of the proposed methodologies when compared to other popular classification methods. The article also touches the use of decision tree classifiers in gene selection.
Studies of New Multistory House Electrical Supply Load and Determination Methods Update
Authors: Budahs Martins , Vanzovichs Edvins , Zviedritis Mareks 
Published: January 2011

Studies of New Multistory House Electrical Supply Load and Determination Methods UpdateA large amount of work has devoted to electric supply system load determination. Most of the load calculation methods and values of the appropriate factors were found many years ago and are outdated, for example, electric supply system for new many dwelling houses. At this time, there is changed not only value of loads but also its character - thus leaving the impact on the calculation methodology and factors values.Employers of Latvenergo Distribution Network are realized wide range of load inspection in more then 24 commercial buildings and dwelling houses over two years. The results are presented in the form of official instruction. This paper is continuing the ongoing theme and dedicating improving possibilities of the calculation methodology. Particular attention has paid to existing methods of load calculation, physical interpretation of factors and possible character changes in the range.The method is designed for design engineers and engineering staff, working with the maintenance and control of apartment buildings.The methodology is not applicable in buildings with electric heating and hot water.
Experimental Research of the Overvoltage in the Insulated Neutral Network
Authors: Gvozdas Vitalijus , Valatka Povilas 
Published: January 2011

Experimental Research of the Overvoltage in the Insulated Neutral Network
The isolated neutral network isolation resistance is often affected by the lightning discharge surge to the line cables or towers. Several overvoltage waves are maid at the moment of the lightning discharge surge. It is dangerous for the devices because at the very short time period the isolation of the device is affected by the surge impact twice or even more. The analysis of the experimentally registered lightning discharge induced overvoltage transients effect from the lightning influence to the power line till the power line disconnection were analyzed in this work. Estimation of the overvoltage characteristics to the isolation resistance was made.
Determination of Equilibrium Points for Steady State Conservative Models
Authors: Panikovskaya Tatiana 
Published: January 2011

Determination of Equilibrium Points for Steady State Conservative ModelsThe development and a more sophisticated structure of electric power systems, the transition towards deregulation and competition between the participants of the electric energy market cause the necessity of a complex steady state analysis, the evaluation of the electric power system stability, with its parameters being changed. The paper addresses the steady state analysis based on algebraic methods. Regular (trivial) and non-regular (additional) equilibrium points for the electric power system conservative model are determined. Changing regular and non-regular equilibrium points in a heavily loaded electric power system is studied.
Les îles Heimaey et Surtsey de l'archipel volcanique Vestmannaejar (Islande). Étude du littoral
Authors: Moign Y. , Moign Annik 
Published: January 2011

RÉSUMÉ
L'évolution de Surtsey , depuis sa date de naissance (1963), permet d'expliquer la formation des autres îles de l'archipel. Grâce à l'étude comparative d'une île stabilisée (Heimaey) et d'un littoral en voie de formation (Surtsey), on peut évaluer le rôle et la valeur de l'action marine.
L'évolution est très rapide. Des falaises de basalte ont reculé de 100 mètres en une année. Des cordons de galets ont été mis en place en moins d'un an. Les galets, pendant un temps très court (au maximum 5 ans), ont acquis un excellent émoussé.
Il est possible qu'un état d'équilibre s'établisse rapidement. Les côtes d'Heimaey semblent stabilisées. Dès lors, la mer n'a plus qu'une action réduite sur le littoral.
Sentinel node mapping in the prostate cancer
Authors: Tabasi K.T , Bazaz S. M. M , Kakhki V. R. D , Massoom A. F , Gholami H , Zakavi S. R , Sadeghi R 
Published: January 2011

SummaryAim: Sentinel node (SN) biopsy is becoming a standard procedure in the management of several malignancies. Several groups have evaluated the feasibility and value of this procedure in prostate cancer patients. In the current meta-analysis, we comprehensively and quantitatively summarized the results of these studies. Methods: Several databases including Medline, SCOPUS, Google Scholar, Ovid, Springer, and Science direct were systematically searched for the relevant studies regarding SL biopsy in the prostate cancer (“prostate” AND “sentinel” as search keywords). The outcomes of interest were sensitivity and detection rate of the procedure. Results: For detection rate and sensitivity 21 and 16 studies met the criteria of inclusion respectively. Pooled detection rate was 93.8% (95% CI 89–96.6%). Cochrane Q value was 216.077 (I2 = 89.81% and p < 0.001). Pooled sensitivity was 94% (95% CI 91–96%). Cochrane Q value was 14.12 (I2 = 0.0 and p = 0.516). Conclusion: SL biopsy can prevent unnecessary pelvic lymph node dissection in prostate cancer patients. This procedure is feasible with low false negative rate and high detection rate.
Réforme psychiatrique et psychothérapie systémique. Continuité, développement, questions non résolues
Authors: Onnis Luigi 
Published: January 2011

Résumé Dans cet article, l’auteur retrace les phases historiques du bouleversement des théories et des pratiques qui ont précédé et accompagné le vote de la loi 180 qui a conduit à la fermeture des asiles psychiatriques en Italie. Il décrit ensuite les caractéristiques de la réforme psychiatrique italienne en soulignant comment elle a fourni les bases de l’exigence de nouvelles méthodes d’interprétation et d’intervention vis-à-vis du malaise psychique ; la psychothérapie en est l’élément essentiel et la loi italienne sur la réglementation de la formation des psychothérapeutes en est une expression ultérieure. La psychothérapie systémique présente des principes communs avec la réforme psychiatrique et peut devenir un instrument d’approfondissement et de développement de concepts et de pratiques nouvelles. Enfin, l’auteur aborde de façon critique les problèmes non résolus, non seulement à propos de la nécessité d’appliquer entièrement la loi de réforme en renforçant ou en créant plus de structures territoriales, mais aussi pour ce qui concerne l’accès à l’aide psychologique en prônant une plus large diffusion dans les services publics d’une culture et d’une pratique psychothérapeutique.
Nouveaux étudiants, nouveaux parcours ? La présence étudiante dans l'enseignement postsecondaire. Présentation
Authors: Doray Pierre , Murdoch Jake 
Published: January 2011

Résumé Ce dossier analyse la recomposition du public étudiant et la reconfiguration institutionnelle qui se conjuguent dans le nouveau visage de l’enseignement postsecondaire, sous l’effet des politiques et des choix scolaires. Son expansion –par massification ou démocratisation quantitative– conduit une proportion croissante d’une classe d’âge vers le postsecondaire. Sur le plan qualitatif, cela se traduit par l’augmentation d’étudiants de catégories sociales précédemment exclues. La distinction entre héritiers et boursiers n’étant plus opératoire, les désignations foisonnent : étudiants nouveaux, non traditionnels, de première génération. À la différence des traditionnels, ils sont inscrits à temps partiel mais travaillent souvent à temps plein et sont indépendants financièrement, interrompent leurs études, ont des responsabilités familiales… Face à cette évolution, des cursus plus interdisciplinaires et plus professionnels apparaissent, l’université n’est plus reine, de nouvelles institutions sont créées –collèges communautaires (Canada, États-Unis), d’enseignement général et professionnel (Québec), universitaires (Californie, Colombie-Britannique), Hautes Écoles professionnelles (Suisse), Instituts universitaires de technologie (France), etc. Le dossier explore cette évolution dans différents pays (Belgique, Canada, France, Royaume-Uni, Suisse).
« Tectonique des plaques monétaires » : création et extension de zones monétaires au sein du système monétaire international
Authors: Gilson Natacha 
Published: January 2011

Résumé L’objectif de ce texte est de présenter la diversité monétaire actuelle ainsi que quelques arrangements en vigueur au sein du système monétaire international. Finalement, l’évolution future du système monétaire international est brièvement esquissée. Codes JEL : F31, F33, F36
La genèse du système monétaire international actuel
Authors: Maes Ivo 
Published: January 2011

Résumé Cet article analyse l’émergence du système monétaire international actuel. Nous étudions d’abord l’établissement du système de Bretton Woods dans les années 1940, son fonctionnement durant la période d’après-guerre et enfin son effondrement en 1973. Nous analysons ensuite le régime de taux de change flottant qui l’a suivi, nous attachant également à l’incidence des pays émergents, en particulier en Asie. Nous examinons enfin la relation entre le système monétaire international et la crise financière actuelle. JEL classification : E42, E60, F32, F33, F42, N10
L'union monétaire européenne : de la lumière à l'ombre…
Authors: Echinard Yann , Laurent Alain 
Published: January 2011

Résumé Cet article présente les raisons ayant conduit les pays européens à s’unir sur le plan monétaire. Il rappelle également que le processus d’unification a été long et sinueux puisqu’il débute en 1969 et se termine en 1999 avec l’adoption de l’euro comme monnaie unique. Si cette union est un des événements les plus importants du XX e siècle, elle demeure encore fragile. L’incomplétude de la gouvernance économique constitue sans doute sa faiblesse originelle. Codes JEL : E42, F15, H77
Le rôle international de l'euro
Authors: Labondance Fabien 
Published: January 2011

Résumé Cet article s’intéresse au rôle international de la devise européenne. Il apparaît que l’euro prend une place de plus en plus importante au sein du système monétaire international, et il s’est constitué un statut de deuxième devise clé derrière le dollar, mais loin devant le yen. Pour autant, la gestion externe de l’euro se heurte aux ambiguïtés de la gouvernance économique européenne. De sorte qu’actuellement l’euro ne semble pas à même de profiter d’un réel pouvoir capable d’influer les règles du jeu monétaire international. Classification JEL : E52, E58, F02, F30, F50
La montée des pays asiatiques dans le système monétaire international
Authors: Aglietta Michel 
Published: January 2011

Résumé Depuis la chute de l’ordre monétaire établi à Bretton Woods le système monétaire international est dépourvu de règles communes. Le dollar est demeuré prépondérant, mais les régimes de change adoptés par les pays ont été disparates en fonction des degrés d’ouverture de leurs systèmes financiers. C’est pourquoi le SMI est un semi-étalon dollar. Couplé à l’avancée de la globalisation depuis les années 1990, il présente des dysfonctionnements qui ont alimenté la crise financière. Il a, en effet, favorisé l’accumulation des déséquilibres de balances de paiements et l’explosion corrélative des réserves en dollars. Les pays asiatiques et la Chine au premier chef sont devenus les principaux créanciers des États-Unis. La crise financière a mis cet héritage dans une nouvelle perspective. L’espace asiatique s’intègre autour de la Chine, laquelle transforme son régime de croissance. Les liens étroits tissés avec le monde émergent conduisent à préparer progressivement la convertibilité du yuan. Le découplage avec le dollar va s’affirmer en même temps que des formes souples de coopération monétaire devront être introduites en Asie de l’Est. La formation d’une zone de coopération monétaire dans la région du monde la plus dynamique pourrait être une force de renouvellement de la gouvernance monétaire internationale. Codes JEL : F31, F33
Comparisons of magnetic and electrical resistivity surveys over simulated clandestine graves in contrasting burial environments
Authors: Juerges A. , Pringle J.K. , Jervis J.R. , Masters P. 
Published: January 2011

ABSTRACTDetermining the effectiveness and limitations of near‐surface, non‐invasive geophysical techniques is imperative when attempting to locate clandestine burials. Unlike in archaeology, there has been limited forensic research with regard to optimum methodologies, with most emphasis to date being on metal detectors and ground‐penetrating radar. However, these techniques may not be suitable in certain soil types (e.g., conductive or highly magnetic) or for certain non‐metallic targets. Therefore, in this study, magnetic and electrical resistivity detection techniques have been utilized over different aged (0.25–1 year) simulated clandestine burials with no buried metal, in contrasting depositional environments. These environments included semi‐rural, urban, woodland and a parkland medieval grave site acting as an archaeological analogue.The magnetic surveys showed mixed success in detecting clandestine burials. Elevated magnetic gradient readings, with respect to background values, were observed over very shallow burials, whereas deeper burials displayed a reduction in gradient and/or no associated magnetic anomalies. Magnetic anomalies were observed over surface‐burials and validated by simple 2D forward modelling. Magnetic anomalies were also observed in the control data set. Electrical resistivity surveys produced anomalies over all the simulated burial positions, including surface burials but did not produce anomalies at the archaeological analogue site.Laboratory analysis of fluid retrieved from simulated graves showed an overall increase in iron levels over a year post‐burial, which may account for the observed magnetic anomaly variation. There was also a corresponding increase in grave ‘fluid’ conductivity, which was interpreted to be the cause of the observed low resistivity anomalies.This research suggests that, as a technique for locating clandestine burials, bulk ground resistivity is more successful than the tested magnetic methods. Moreover, magnetic techniques are more effective when used as part of a multi‐technique study over rural and semi‐rural sites that are relatively low in magnetic and electrical ‘noise’. These results have important implications for the use of geophysical techniques when searching for clandestine burials. We emphasize that local depositional environment, soil type, likely style of burial and search area size should all be considered when choosing forensic geophysical detection techniques. We also provide evidence to show that geophysical data can assist in locating a primary deposition site even when no physical evidence remains.