bluuebunny/crossref_metadata_2025 huggingface dataset:
Systemic linguistic analysis of samples from economic speeches by Barack Obama and John McCain
Authors: Kyrala Cadmus
Published: April 2010

Using the principles of Systemic Functional Grammar (SFG) as pioneered by Michael Halliday, this paper compares samples from speeches by John McCain and Barack Obama. Given the world-wide media coverage of the 2008 United States Presidential Election, it was thought to be both relevant and potentially informative to apply such an analysis in attempt to identify ideologies in the texts and to explore the significance of notable differences or similarities. It was discovered that both texts manage the experiential, interpersonal, and textual meanings in ways which provide clear indications of ideology.
Competing discourses in the debate on place names in Cyprus
Authors: Georgiou Vasiliki
Published: April 2010

This paper discusses discourses around language and nation as articulated in a public debate on the orthography of place names in Cyprus, triggered during the implementation stage of the standardisation/transliteration process in the 1990s. Adopting a language ideologies framework, the discussion is based on two related premises, first, language debates are indexical of deeper social conflicts and are deeply seated in the history and politics of a specific territory/community, and second, the discourses drawn upon to support/contest a particular orthographic convention are loaded with political, moral and/or historical concerns. I argue that the debate in question can be conceptualised as (partially) the outcome of a conflict between different constructions of a political discourse, here identified asnationalandcommunitydiscourses. The focus here is on the different rationalisations of language and identity each of these entails and on their implications for (i) the inclusion/exclusion of the Cypriot Greek dialect from the standardisation process, (ii) the symbolic inclusion/exclusion of theOtherfrom constructions of Greek Cypriot identity. The data consists of a corpus of newspaper texts covering the period of the peak of the debate, 1994–1995. For the analysis, I draw selectively on insights and tools from discourse analytical work in the traditions of linguistic anthropology and CDA to examine discursive links between language, place names and issues such as history, identity and tradition.
Vernacularization, globalization, and language economics in non-English-speaking countries in Africa
Authors: Kamwangamalu Nkonko M.
Published: April 2010

Research into language policy in Africa has addressed the impact of colonial language policies on efforts to formulate and implement post-colonial language policies aimed at vernacularization, defined as the use of indigenous African languages in higher domains such as education. What seems to have received very little attention to date, however, is the effect of globalization, through the medium of English, on vernacularization not only in Anglophone but also in non-English-speaking countries in the African continent. Focusing on the latter territories, this paper explores this issue from the perspective of recent theoretical developments in the field of language economics, an area of study whose focus is on the theoretical and empirical ways in which linguistic and economic variables influence one another. It argues that the spread of English to these historically non-English-speaking territories in Africa represents the second challenge to largely symbolic language policies aimed at promoting vernacularization, the first one being other western languages (e.g. French, Portuguese, Spanish). Drawing on language economics, the paper argues that the prospects for the indigenous languages will continue to be bleak, especially in the era of globalization, unless these languages are viewed as a commodity rather than as a token for cultural preservation, and are associated with some of the advantages and material gains that have for decades been the preserve of western languages. Resistance against, and successful case studies of, vernacularization informed by language economics in various parts of the world are presented in support of the proposed argument for the promotion of Africa’s indigenous languages in education.
«La cuestión de la lingua» y la defensa del judeoespañol en la prensa sefardí de Salónica (1901–1902)
Authors: Bürki Yvette
Published: April 2010

En el presente artículo nos ocupamos de las polémicas en torno al judeoespañol a partir de un corpus representativo de textos de los periódicos salonicences El Avenir y La Época (1901–1992). Durante el último tercio del siglo XIX y a lo largo del siglo XX se desataron en los periódicos en judeoespañol más importantes de las comunidades sefardíes del Imperio Otomano discusiones sobre qué lengua era la más indicada para ser empleada entre los sefardíes como vehículo de comunicación y de cultura. La actitud frente a la lengua adoptada por los periódicos, además de constituir una manifestación de la conciencia lingüística de sus dirigentes, desvela la línea ideológica de los rotativos en una época en que el agonizante Imperio Otomano estaba en pleno proceso de desmembramiento como consecuencia de los nacionalismos balcánicos, y los movimientos sionistas habían empezado a tomar fuerza en Europa.
Effects of basic human values on host community acculturation orientations
Authors: Sapienza Irene , Hichy Zira , Guarnera Maria , Di Nuovo Santo
Published: April 2010

Although literature provides evidence for the relationship between values and acculturation, the relationship between host community acculturation orientations has not yet been investigated. In this study we tested the effects of four high‐order values (openness to change, self‐transcendence, conservation, and self‐enhancement, devised according to Schwartz's model) on host community acculturation orientations towards immigrants (devised according the interactive acculturation model) in the public domain of employment and the private domain of endogamy/exogamy. Participants were 264 Italian University students, who completed a questionnaire containing the Portrait Values Questionnaire, a measure of personal values, and the Host Community Acculturation Scale, aimed at measuring Italian acculturation strategies towards three groups of immigrants: Immigrants (the general category), Chinese (the valued immigrant group), and Albanians (the devalued immigrant group). Results showed that personal values are related to the adoption of acculturation orientations: In particular, the values that mostly impacted on acculturation orientations were self‐transcendence and conservation. Values concerning self‐transcendence encourage the adoption of integrationism, integrationism–transformation, and individualism and reduce the adoption of assimilationism, segregationism, and exclusionism. Values concerning conservation encourage the adoption of assimilation, segregation and exclusion orientations and reduce the adoption of both types of integrationism and individualism. Minor effects were found regarding self‐enhancement and openness to change.
Linguistic Analysis to Assess the Effect of a Mindfulness Intervention on Self-Change for Adults in Substance Use Recovery
Authors: Liehr Patricia , Marcus Marianne T. , Carroll Deidra , Granmayeh L. Kian , Cron Stanley G. , Pennebaker James W.
Published: April 2010

Substance use is a pervasive health problem. Therapeutic community (TC) is an established substance abuse treatment but TC environments are stressful and dropout rates are high. Mindfulness-based TC (MBTC) intervention was developed to address TC stress and support self-change that could impact treatment retention. Self-change was assessed through feeling and thinking word-use in written stories of stress from 140 TC residents in a historical control group and 253 TC residents in a MBTC intervention group. Data were collected 5 times over a 9-month period. Linguistic analysis showed no differences between the groups over time; however, over all time points, the MBTC intervention group used fewer negative emotion words than the TC control group. Also, negative emotion ( P < .01) and anxiety ( P < .01) word-use decreased whereas positive emotion word-use increased ( P < .05) over time in both groups. Descriptive data from linguistic analyses indicated that sustained self-change demands participation in mindfulness behaviors beyond the instructor-guided MBTC intervention.
The Contribution of Mindfulness Practice to a Multicomponent Behavioral Sleep Intervention following Substance Abuse Treatment in Adolescents: A Treatment-Development Study
Authors: Britton Willoughby B. , Bootzin Richard R. , Cousins Jennifer C. , Hasler Brant P. , Peck Tucker , Shapiro Shauna L.
Published: April 2010

Poor sleep is common in substance use disorders (SUDs) and is a risk factor for relapse. Within the context of a multicomponent, mindfulness-based sleep intervention that included mindfulness meditation (MM) for adolescent outpatients with SUDs ( n = 55), this analysis assessed the contributions of MM practice intensity to gains in sleep quality and self-efficacy related to SUDs. Eighteen adolescents completed a 6-session study intervention and questionnaires on psychological distress, sleep quality, mindfulness practice, and substance use at baseline, 8, 20, and 60 weeks postentry. Program participation was associated with improvements in sleep and emotional distress, and reduced substance use. MM practice frequency correlated with increased sleep duration and improvement in self-efficacy about substance use. Increased sleep duration was associated with improvements in psychological distress, relapse resistance, and substance use–related problems. These findings suggest that sleep is an important therapeutic target in substance abusing adolescents and that MM may be a useful component to promote improved sleep.
Psychosocial Treatment for Methamphetamine Use Disorders: A Preliminary Randomized Controlled Trial of Cognitive Behavior Therapy and Acceptance and Commitment Therapy
Authors: Smout Matthew F. , Longo Marie , Harrison Sonia , Minniti Rinaldo , Wickes Wendy , White Jason M.
Published: April 2010

Acceptance and Commitment Therapy (ACT) incorporates developments in behavior therapy, holds promise but has not been evaluated for methamphetamine use disorders. The objective of this study was to test whether ACT would increase treatment attendance and reduce methamphetamine use and related harms compared to cognitive behavior therapy (CBT). One hundred and four treatment-seeking adults with methamphetamine abuse or dependence were randomly assigned to receive 12 weekly 60-minute individual sessions of ACT or CBT. Attrition was 70% at 12 weeks and 86% at 24 weeks postentry. Per intention-to-treat analysis, there were no significant differences between the treatment groups in treatment attendance (median 3 sessions), and methamphetamine-related outcomes; however, methamphetamine use (toxicology-assessed and self-reported), negative consequences, and dependence severity significantly improved over time in both groups. Although ACT did not improve treatment outcomes or attendance compared to CBT, it may be a viable alternative to CBT for methamphetamine use disorders. Future rigorous research in this area seems warranted.
Development of an Acceptance-Based Coping Intervention for Alcohol Dependence Relapse Prevention
Authors: Vieten Cassandra , Astin John A. , Buscemi Raymond , Galloway Gantt P.
Published: April 2010

Both psychological and neurobiological findings lend support to the long-standing clinical observation that negative affect is involved in the development and maintenance of alcohol dependence, and difficulty coping with negative affect is a common precipitant of relapse after treatment. Although many current approaches to relapse prevention emphasize change-based strategies for managing negative cognitions and affect, acceptance-based strategies for preventing relapse to alcohol use are intended to provide methods for coping with distress that are fundamentally different from, though in theory complementary to, approaches that emphasize control and change. This paper describes the development of Acceptance-Based Coping for Relapse Prevention (ABCRP), a new intervention for alcohol-dependent individuals who are within 6 months of having quit drinking. Results of preliminary testing indicate that the intervention is feasible with this population; and a small uncontrolled pilot study ( N = 23) showed significant ( P < .01) improvements in self-reported negative affect, emotional reactivity, perceived stress, positive affect, psychological well-being, and mindfulness level, as well as a trend ( P = .06) toward reduction in craving severity between pre- and postintervention assessments. The authors conclude that this acceptance-based intervention seems feasible and holds promise for improving affect and reducing relapse in alcohol-dependent individuals, warranting further research.
Implantable defibrillator therapy for ventricular tachyarrhythmia in left ventricular assist device patients
Authors: Oswald Hanno , Schultz‐Wildelau Claudia , Gardiwal Ajmal , Lüsebrink Ulrich , König Thorben , Meyer Anna , Duncker David , Pichlmaier Maximilian A. , Klein Gunnar , Strüber Martin
Published: April 2010

Aims

Ventricular arrhythmias (VA) occur frequently after permanent left ventricular assist device (LVAD) implantation in end stage heart failure. Left ventricular assist device patients require rhythm control in contrast to patients with biventricular support. However, the rationale for implantable cardioverter‐defibrillator (ICD) utilization in LVAD patients remains unclear. This study investigated the safety and efficacy of primary prevention ICD therapy and the rate of appropriate ICD interventions in LVAD patients.

Methods and results

We prospectively collected data from patients receiving LVADs. Patients without previous ICD received an ICD after LVAD implantation for primary prevention. Sixty‐one patients with LVAD and ICD were followed prospectively for 365 ± 321 days. Nine patients died from thromboembolism or haemorrhage. Overall, the rate of appropriate ICD interventions was 34%, mostly for treatment of monomorphic VT in 52%, polymorphic VT in 13%, and VF in 35%. Seventy‐one percent of VA were terminated by overdrive pacing, 29% by shock. Patients with a history of VA before LVAD implantation had a significantly higher 1‐year rate for ICD therapy compared with LVAD patients with a primary prevention ICD indication LVAD patients (50 vs. 24%). Similarly, patients with non‐ischaemic cardiomyopathy had a significantly higher risk for ICD therapy than patients with ischaemic heart disease (50 vs. 22%).

Conclusion

Implantable cardioverter‐defibrillator therapy is safe and effective in LVAD patients. Ventricular arrhythmias leading to ICD intervention occur frequently in 34% of LVAD patients after 1 year, with large variations depending on the underlying cardiac disease and previous arrhythmia history. Primary prevention ICD indication after LVAD implantation yields high rates of ICD intervention. A history of previous VA strongly predicts future use of ICD treatment after LVAD implantation.
Hyperglycaemia protects the heart after myocardial infarction: aspects of programmed cell survival and cell death
Authors: Malfitano Christiane , Alba Loureiro Tatiana C. , Rodrigues Bruno , Sirvente Raquel , Salemi Vera Maria Cury , Rabechi Nara B. , Lacchini Silvia , Curi Rui , Irigoyen Maria Claudia C.
Published: April 2010

Aims

Exposure to a high glucose medium or diabetes has been found to protect the heart against ischaemia. The activation of antiapoptotic and proliferative factors seems to be involved in this cardioprotection. This study was designed to evaluate the role of hyperglycaemia in cardiac function, programmed cell survival, and cell death in diabetic rats after myocardial infarction (MI).

Methods and results

Male Wistar rats were divided into four groups (n = 8): control (C), diabetic (D), myocardial infarcted (MI), and diabetic myocardial infarcted (DI). The following measures were assessed in the left ventricle: size of MI, systolic and diastolic function by echocardiography, cytokines by ELISA (TNF‐α, IL‐1β, IL‐6, and IL‐10), gene expression by real‐time PCR (Bax, Fas, p53, Bcl‐2, HIF1‐α, VEGF, and IL8r), caspase‐3 activity by spectrofluorometric assay, glucose transporter type 1 and 4 (GLUT‐1 and GLUT‐4) protein expression by western blotting, and capillary density and fibrosis by histological analysis. Systolic function was improved by hyperglycaemia in the DI group, and this was accompanied by no improvement in diastolic dysfunction, a reduction of 36% in MI size, reduced proinflammatory cytokines, apoptosis activation, and an increase in cell survival factors (HIF1‐α, VEGFa and IL8r) assessed 15 days post‐MI. Moreover, hyperglycaemia resulted in angiogenesis (increased capillary density) before and after MI, accompanied by a reduction in fibrosis.

Conclusion

Together, these results suggest that greater plasticity and cellular resistance to ischaemic injury result from chronic diabetic hyperglycaemia in rat hearts.
Functional Modules in the Arabidopsis Core Cell Cycle Binary Protein–Protein Interaction Network
Authors: Boruc Joanna , Van den Daele Hilde , Hollunder Jens , Rombauts Stephane , Mylle Evelien , Hilson Pierre , Inzé Dirk , De Veylder Lieven , Russinova Eugenia
Published: April 2010

As in other eukaryotes, cell division in plants is highly conserved and regulated by cyclin-dependent kinases (CDKs) that are themselves predominantly regulated at the posttranscriptional level by their association with proteins such as cyclins. Although over the last years the knowledge of the plant cell cycle has considerably increased, little is known on the assembly and regulation of the different CDK complexes. To map protein–protein interactions between core cell cycle proteins of Arabidopsis thaliana, a binary protein–protein interactome network was generated using two complementary high-throughput interaction assays, yeast two-hybrid and bimolecular fluorescence complementation. Pairwise interactions among 58 core cell cycle proteins were tested, resulting in 357 interactions, of which 293 have not been reported before. Integration of the binary interaction results with cell cycle phase-dependent expression information and localization data allowed the construction of a dynamic interaction network. The obtained interaction map constitutes a framework for further in-depth analysis of the cell cycle machinery.
Plasma concentrations of VCAM‐1 and PAI‐1: A predictive biomarker for post‐operative recurrence in colorectal cancer
Authors: Yamada Yasuhide , Arao Tokuzo , Matsumoto Kazuko , Gupta Vinita , Tan Woei , Fedynyshyn Joe , Nakajima Takako E. , Shimada Yasuhiro , Hamaguchi Tetsuya , Kato Ken , Taniguchi Hirokazu , Saito Yutaka , Matsuda Takahisa , Moriya Yoshihiro , Akasu Takayuki , Fujita Shin , Yamamoto Seiichiro , Nishio Kazuto
Published: April 2010

This prospective study used antibody suspension bead arrays to identify biomarkers capable of predicting post‐operative recurrence with distal metastasis in patients with colorectal cancer. One hundred colorectal cancer patients who underwent surgery were enrolled in this study. The median follow‐up period was 3.9 years. The pre‐operative plasma concentrations of 24 angiogenesis‐related molecules were analyzed with regard to the TNM stage and the development of post‐operative recurrence. The concentrations of half of the examined molecules (13/24) increased significantly according to the TNM stage (P < 0.05). Meanwhile, a multivariate logistic regression analysis revealed that the concentrations of vascular cell adhesion molecule 1 (VCAM‐1) and plasminogen activator inhibitor‐1 (PAI‐1) were significantly higher in the post‐operative recurrence group. The VCAM‐1 and PAI‐1 model discriminated post‐operative recurrence with an area under the curve of 0.82, a sensitivity of 0.75, and a specificity of 0.73. A leave‐one‐out cross‐validation was applied to the model to assess the prediction performance, and the result indicated that the cross‐validated error rate was 12.5% (12/96). In conclusion, our results demonstrate that antibody suspension bead arrays are a powerful tool to screen biomarkers in the clinical setting, and the plasma levels of VCAM‐1 and PAI‐1 together may be a promising biomarker for predicting post‐operative recurrence in patients with colorectal cancer. (Cancer Sci 2010)
The Lusitano horse maternal lineage based on mitochondrial D‐loop sequence variation
Authors: Lopes M. S. , Mendonça D. , Cymbron T. , Valera M. , Da Costa‐Ferreira J. , Da Câmara Machado A.
Published: April 2010

The analysis of mitochondrial D‐loop sequences (408 bp) from 145 Lusitano founder mares yielded a total of 27 different haplotypes. The distribution of these mtDNA sequences was quite unequal, with the three most frequent ones representing 56.5% of all the Lusitano founder mares and 14 haplotypes (51.9%) being rare variants found only once in the sampling. Four main haplotype clusters were present in the Lusitano breed. The comparison of these sequences with other equine haplotypes shows that they fall in groups shared with other horse breeds. These data support the hypothesis of multiple domestication events in many distinct geographic areas over a broad time span. However, the analysis of 145 Lusitano, 55 Pura Raza Española and 18 Sorraia sequences indicates that half of the samples (50.9%) fall in one specific‐cluster (A), which has previously been described as characteristic of the Iberian and Northern African horse breeds. The presence of a phylogeographic structure in cluster A associated with its star‐like structure was interpreted as suggestive of a centre of horse domestication in the Iberia Peninsula.
Nine porcine microsatellite loci tested for size homoplasy in genetically diverse breeds
Authors: Peischl T. , Kuss A. W. , Melchinger‐Wild E. , Geldermann H.
Published: April 2010

Kind and probability of homoplasy across allelic microsatellite fragments can be investigated using DNA of genetically diverse pig breeds. In this study, nine microsatellite loci (SW1897, SW2427, SW489, SW957, TNFB, IFNG, SW2410, SW2019 and S0215) were analysed using DNA samples of pigs from Vietnam (Indigenous breeds Co, Meo, Muong Khuong, Tap Na) and Germany (European Wild Boar, Piétrain). In a total of 39 sequences, 20 differences within isomorphic alleles were observed in comparison with the respective reference sequences. They affected five of the nine tested microsatellite loci. The majority (18) of SNPs occurred in the 5′‐flanking regions of the microsatellite repeats, 10 were found in the 3′‐flanking regions and only one SNP occurred within the repeat of the Wild Boar sequence of SW2427. The compound microsatellites IFNG and S0215 were unaffected by size homoplasy (SH) within our material. We conclude that the fragment length analysis of microsatellites is a reliable tool for intraspecific phylogenetic studies because SH rates within a species were low.
Construction of a genetic linkage map of Japanese quail (Coturnix japonica) based on AFLP and microsatellite markers
Authors: Kikuchi S. , Fujima D. , Sasazaki S. , Tsuji S. , Mizutani M. , Fujiwara A. , Mannen H.
Published: April 2010

The Japanese quail (Coturnix japonica) is a notably valuable egg and meat producer but has also been used as a laboratory animal. In the present study, we constructed a Japanese quail linkage map with 1735 polymorphic amplified fragment length polymorphisms markers, and nine chicken microsatellite (MS) markers, as well as sex and phenotypes of two genetic diseases; a muscular disorder (LWC) and neurofilament‐deficient mutant (Quv). Linkage analysis revealed 578 independent loci. The resulting linkage map contained 44 multipoint linkage groups covering 2597.8 cM and an additional 218.2 cM was contained in 21 two‐point linkage groups. The total map was 2816 cM in length with an average marker interval of 5.5 cM. The Quv locus was located on linkage group 5, but linkage was not found between the LWC locus and any of the markers. Comparative mapping with chicken using orthologous markers revealed chromosomal assignments of the quail linkage group 1 to chicken chromosome 2 (GGA2), 5 to GGA22, 2 to GGA5, 8 to GGA7, 27 to GGA11, 29 to GGA1 and 45 to GGA4.
Addressing longitudinal connectivity in the systematic conservation planning of fresh waters
Authors: HERMOSO V. , LINKE S. , PRENDA J. , POSSINGHAM H. P.
Published: April 2010

1. Freshwater conservation has received less attention than its terrestrial or marine counterparts. Given the accelerated rate of change and intensive human use that freshwater ecosystems are submitted to, it is urgent to focus more attention on fresh waters. Existing conservation planning tools – such as Marxan – need to be modified to account for the special nature of these systems. Connectivity plays a key role in freshwater ecosystems. Threats are mediated along river corridors, and the condition of the entire catchment influences river biodiversity downstream. This needs to be considered in conservation planning.

2. The probabilities of occurrence of nine native freshwater fish species in a Mediterranean river basin, obtained from Multivariate Adaptive Regression Splines‐ Generalized Linear Model (MARS‐GLM) models, were used as features to develop spatial conservation priorities. The priorities accounted for complementarity and spatial design issues.

3. To deal with the connected nature of rivers, we modified Marxan’s boundary length penalty, avoiding the selection of isolated planning units and forcing the inclusion of closer upstream areas. We introduced ‘virtual boundaries’ between non‐headwater stream segments and added distance‐weighted penalties to the overall connectivity cost (CP) when stream segments upstream of the selected planning units are not selected.

4. This approach to prioritising connectivity is concordant with ecological theory, as it considers the natural and roughly exponential decay of upstream influences with distance. It accounts for the natural capacity of rivers to mitigate impacts when designing reserves. When connectivity was not emphasised, Marxan prioritised natural corridors for longitudinal movements. In contrast, whole sub‐basins were prioritised when connectivity was emphasised. Changing the relative emphasis on connectivity substantially changed the spatial prioritisation; our conservation investment could move from one basin to another.

5. Our novel approach to dealing with directional connectivity enables managers of freshwater systems to set ecologically meaningful spatial conservation priorities.
Response of human pulps after professionally applied vital tooth bleaching
Authors: Kina J. F. , Huck C. , Riehl H. , Martinez T. C. , Sacono N. T. , Ribeiro A. P. D. , Costa C. A. S.
Published: April 2010

Kina JF, Huck C, Riehl H, Martinez TC, Sacono NT, Ribeiro APD, Costa CAS. Response of human pulps after professionally applied vital tooth bleaching. International Endodontic Journal 43, 572–580, 2010.

Aim  To evaluate in vivo the microscopic pulpal response in sound human premolar teeth subjected to vital tooth bleaching with a 38% hydrogen peroxide (H2O2) bleaching gel (Opalescence X‐tra Boost) catalysed or not by a halogen light source.

Methodology  Twelve pairs of sound maxillary and/or mandibular premolar teeth from 12 to 18‐year‐old patients were selected and randomly assigned to the following experimental (n = 10) and control (n = 4) groups: group 1: bleaching gel + halogen light; group 2: bleaching gel; group 3: no treatment (control). The teeth were extracted 2–15 days after bleaching and were subjected to routine laboratory processing for histological analysis of the pulpal response under light microscopy.

Results  In almost all specimens of the experimental groups, the pulp tissue exhibited histological characteristics of normality. Only one specimen in each group exhibited some dilated and congested blood vessels among a discrete number of mononuclear inflammatory cells in the peripheral pulp region related to the buccal surface of the tooth. These specimens had a slight disruption to the odontoblastic layer, which characterized discrete tissue disorganization. Some deposition of reactionary dentine occurred in only one specimen of group 2.

Conclusions  Professionally applied vital tooth bleaching with a 38% H2O2 gel with or without activation by a halogen light source did not cause damage to the pulp tissue of sound human premolar teeth.
Maternal responses to child frustration and requests for help in dyads with fragile X syndrome
Authors: Wheeler A. C. , Hatton D. , Holloway V. T. , Sideris J. , Neebe E. C. , Roberts J. E. , Reznick J. S.
Published: April 2010

Background  Variability in behaviour displayed by children with fragile X syndrome (FXS) may be partially attributable to environmental factors such as maternal responsivity. The purpose of this study was to explore variables associated with maternal behaviour during a task designed to elicit frustration in their children with FXS.

Methods  Forty‐six mother–child dyads, in which the child had full‐mutation FXS, were observed in their homes during a task designed to elicit frustration in the child. Each child was given a wrong set of keys and asked to open a box to retrieve a desired toy. Mothers were provided with the correct set of keys and instructed to intervene when they perceived their child was getting too frustrated. Child‐expressed frustration and requests for help and maternal behaviours (comforting, negative control, and encouraging/directing) were observed and coded. Maternal variables (e.g. depression, stress, education levels), child variables (e.g. autistic behaviours, age, medication use) and child behaviours (frustration, requests for help) were explored as predictors of maternal behaviour.

Results  Almost all mothers intervened to help their children and most used encouraging/directing behaviours, whereas very few used comforting or negative control. Child age and child behaviours during the frustrating event were significant predictors of encouraging/directing behaviours in the mothers. Children whose mothers reported higher depressive symptomology used fewer requests for help, and mothers of children with more autistic behaviours used more negative control.

Conclusions  The results of this study suggest that child age and immediate behaviours are more strongly related to maternal responsivity than maternal traits such as depression and stress.
Use of antipsychotic drugs in individuals with intellectual disability (ID) in the Netherlands: prevalence and reasons for prescription
Authors: de Kuijper G. , Hoekstra P. , Visser F. , Scholte F. A. , Penning C. , Evenhuis H.
Published: April 2010

Background  We investigated antipsychotic drug prescription practice of Dutch ID physicians, studying prevalence of antipsychotic drug use, reasons for prescription and the relationship between these reasons and patient characteristics.

Methods  A cross‐sectional study of medical and pharmaceutical records in a population living in residential settings of three care providers for persons with IDs in the Netherlands (n = 2373).

Results  Prevalence of antipsychotic drug use was 32.2% (95% CI 30.1–33.9). Behavioural problems were the reason for prescription of antipsychotic drugs in 58% of cases and psychotic disorder or psychotic symptoms in 22.5%. In 11.7% the diagnosis of psychotic disorder was specified according to DSM‐IV criteria. In 18.5% the reason for prescription was not noted in the medical record. Behavioural problems as reason for prescription was associated with profound and severe ID, living in a central location and male sex. Psychotic disorder specified according to DSM‐IV as indication for prescription was negatively associated with profound and severe ID and with presence of an additional mental disorder. Absence of a noted reason for prescription was associated with female sex and with the presence of an additional mental disorder.

Discussion  Current prevalence and reason for prescription of antipsychotic drugs are similar with outcomes of previous studies. Our results show the continuing lack of evidence‐based psychopharmacological treatment in mental health care for persons with IDs.
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease
Authors: Stallmeyer B , Fenge H , Nowak‐Göttl U , Schulze‐Bahr E
Published: April 2010

Stallmeyer B, Fenge H, Nowak‐Göttl U, Schulze‐Bahr E. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

Heterozygous mutations in the human transcription factor gene NKX2.5 are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect‐II (ASD‐II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF). Thus, NKX2.5 has an important role at different stages of cardiac development. The frequency of NKX2.5 mutations in a broader phenotypic spectrum of CHD is not completely determined. Here, we report the identification of two novel mutations in the NKX2.5 gene in a screening of 121 patients with a broad spectrum of CHDs. However, mutations were only associated with familial ASD‐II and in both, patients also showed atrioventricular (AV) block. We found one missense mutation (R190L) in two siblings with ASD‐II and a frame‐shift mutation (A255fsX38) at the C‐terminus in a mother and daughter. In addition, a single patient with hypoplastic left heart syndrome (HLHS) had the reported sequence variant R25C. Importantly, sporadic cases of CHD that share phenotypic aspects of NKX2.5 mutation carriers were negative for genetic analysis. Thus, even important for cardiac development, germline mutations in NKX2.5 are rare in patients with sporadic CHD and genetic and/or pathophysiologic heterogeneity is likely for sporadic forms of CHD.
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
Authors: Brožková D , Mazanec R , Haberlová J , Sakmaryová I , Seeman P
Published: April 2010

Brožková D, Mazanec R, Haberlová J, Sakmaryová I, Seeman P. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.

Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot‐Marie‐Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the new mutation in larger families are crucial for the correct interpretation of the pathogenic or non‐pathogenic character of each novel mutation. We examined 11 families with novel MPZ mutations. Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c.645+1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non‐pathogenic/rare polymorphisms because they are present in healthy relatives. The character of the V46M mutation is difficult to interpret definitely; it may cause a sensory neuropathy or may also be a rare polymorphism. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot deformities and mild or even absent atrophies in the lower limbs. Our report and careful family investigations with genotype–phenotype correlations should help to improve genetic counselling and correct interpretation of DNA testing results in further isolated patients or smaller families worldwide where these novel mutations might be found.
ERCC6 founder mutation identified in Finnish patients with COFS syndrome
Authors: Jaakkola E , Mustonen A , Olsen P , Miettinen S , Savuoja T , Raams A , Jaspers NGJ , Shao H , Wu BL , Ignatius J
Published: April 2010

Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NGJ, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome.

Cerebro‐oculo‐facio‐skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients have been published previously in 1982 as the first cases exhibiting cerebral calcifications typical for this disorder. Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB)] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases. Genealogical investigation showed a common ancestor living in a northeastern village in Finland in the 18th century for all six patients implying a founder effect.
Hypogammaglobulinemia and bronchiectasis in mycophenolate mofetil‐treated renal transplant recipients: an emerging clinical phenomenon?
Authors: Boddana Preetham , Webb Lynsey H. , Unsworth Joseph , Brealey Matthew , Bingham Coralie , Harper Steven J.
Published: April 2010

Boddana P, Webb LH, Unsworth J, Brealey M, Bingham C, Harper SJ. Hypogammaglobulinemia and bronchiectasis in mycophenolate mofetil‐treated renal transplant recipients: an emerging clinical phenomenon? Clin Transplant 2011: 25: 417–419. © 2010 John Wiley & Sons A/S.

Abstract: Background:  Mycophenolate mofetil (MMF) inhibits T‐ and B‐cell proliferation and can cause acquired or secondary hypogammaglobulinemia. This finding and the subsequent development of opportunistic infection, including pneumonia, have been reported in patients receiving MMF. Chronic pulmonary infection and hypogammaglobulinemia predispose to bronchiectasis, and we aimed to establish the incidence and clinical pattern of this condition within our MMF‐treated renal transplant population.

Methods:  We performed a retrospective analysis of MMF‐treated transplant recipients. Two hundred and eighty‐nine patients were identified and for each, demographic, clinical, radiological and laboratory data from case notes and electronic records were collected.

Results:  Twenty‐three of 289 patients had recurrent severe chest infections (>2 episodes) between 12 and 95 months after the introduction of MMF. The mean age was 53 ± 17 yr. Pulmonary lesions fulfilled clinical, radiographic and computerized tomography criteria for bronchiectasis in 7/289 (2.4%). All seven patients with bronchiectasis had low serum IgG levels. Three patients had sufficient samples available for B‐cell phenotype analysis but no conclusive results emerged. No cases of post‐transplant bronchiectasis were identified in our transplant population not receiving MMF.

Discussion:  We report seven cases of bronchiectasis in renal transplant patients receiving MMF. We speculate that low immunoglobulin levels may contribute to the development of this significant pulmonary disease.
Divergent patterns of diversification in courtship and genitalic characters of Timema walking‐sticks
Authors: ARBUTHNOTT D. , ELLIOT M. G. , McPEEK M. A. , CRESPI B. J.
Published: April 2010

Understanding the patterns of diversification in sexual traits and the selection underlying such diversification represents a major unresolved question in evolutionary biology. We examined the phylogenetic diversification for courtship and external genitalic characters across ten species of Timema walking‐sticks, to infer the tempos and modes of character change in these sexual traits and to draw inferences regarding the selective pressures underlying speciation and diversification in this clade. Rates of inferred change in male courtship behaviours were proportional to speciation events, but male external genitalic structures showed a pattern of continuous change across evolutionary time, with divergence proportional to branch lengths. These findings suggest that diversification of courtship behaviour is mediated by processes that occur in association with speciation, whereas diversification of genitalia occurs more or less continuously, most likely driven by forces of sexual selection.
Observational comparative trial of the efficacy of proton pump inhibitors versus histamine‐2 receptor antagonists for uninvestigated dyspepsia
Authors: Nagahara Akihito , Asaoka Daisuke , Hojo Mariko , Oguro Masako , Shimada Yuji , Ishikawa Dai , Osada Taro , Kawabe Masato , Yoshizawa Takashi , Otaka Michiro , Watanabe Sumio
Published: April 2010

Background and Aims: It is still controversial which drugs, proton pump inhibitors (PPI) or histamine‐2 receptor antagonists (H2RA), are more effective for dyspepsia in the Japanese population.

Methods: Patients with uninvestigated dyspepsia (n = 104; male/female 41/63) were treated with either rabeprazole 10 mg o.d. (n = 62) or lafutidine 10 mg b.i.d. (n = 42) for 4 weeks. Questionnaires (modified Frequency Scale for the Symptoms of Gastroesophageal Reflux Disease [mFSSG] and quality of life [QOL], SF‐8) were administered before and after therapy. The mFSSG was classified into a total score (Q‐T), reflux score (Q‐R), dyspepsia score (Q‐D) and pain score (Q‐P). The SF‐8 had a physical component summary (PCS) and mental component summary (MCS). The predominant type of symptom was reflux (R‐S), pain (P‐S) or dysmotility (D‐S).

Results: R‐S was 19.2%, P‐S 48.1%, D‐S 24.0% and overlap 8.7%. In the R‐S, Q‐T and Q‐R significantly improved with rabeprazole, but neither scale improved with lafutidine. MCS significantly improved with rabeprazole. In P‐S, Q‐T, Q‐R, Q‐D and Q‐P significantly improved with both drugs. PCS significantly improved with both, whereas the MCS significant improved with rabeprazole. In D‐S, Q‐R and Q‐D significant improved with rabeprazole, but neither improved with lafutidine. QOL did not improve with either. With overlap, neither scale nor the QOL reached a significant difference.

Conclusion: Both PPI and H2RA have a positive effect on P‐S, but H2RA therapy is limited for R‐S and D‐S, whereas PPI therapy is generally effective. Therefore, careful prescription based on symptoms is important.
Combined Mathieu and Snodgrass urethroplasty for hypospadias repair: A prospective randomized study
Authors: ElGanainy Ehab O , Abdelsalam Yaser M , Gadelmoula Mohamad M , Shalaby Mahmoud M
Published: April 2010

Objectives:  To evaluate the outcomes of combined Mathieu and Snodgrass urethroplasty for distal hypospadias repair and to compare them with the two techniques separately.

Methods:  Between January 2006 and February 2009, patients with distal hypospadias were prospectively randomized to undergo one of the three following urethroplasty techniques: Mathieu urethroplasty, Snodgrass urethroplasty or a combination of the two. Operative time, intraoperative, early and late postoperative complications were reported for each procedure.

Results:  101 patients were included in this study. The Mathieu technique was used for 30 patients, Snodgrass repair was carried out in 37 patients and 34 patients underwent the combined technique. Operative time ranged from 43 to 120 min. Eight patients developed urethrocutaneous fistulae. Meatal stenosis was encountered in five cases. Thirty‐seven patients had rounded meatus, while a slit‐like urethral opening was found in 64 cases.

Conclusions:  In our hands, the combined Mathieu and Snodgrass urethroplasty technique provided a better cosmetic outcome than the Mathieu technique with no incidence of meatal stenosis as seen with the Snodgrass technique.
Detecting the impact of invasive species on native fauna: Cane toads (Bufo marinus), frillneck lizards (Chlamydosaurus kingii) and the importance of spatial replication
Authors: UJVARI BEATA , SHINE RICHARD , MADSEN THOMAS
Published: April 2010

An understanding of which native species are severely impacted by an anthropogenic change (such as the arrival of an invasive species) and which are not is critical to prioritizing conservation efforts. However, it is difficult to detect such impacts if the native taxa exhibit strong stochastic variations in abundance; a ‘natural’ population decline might be wrongly interpreted as an impact of the invader. Frillneck lizards (Chlamydosaurus kingii) are large iconic Australian agamids, and have been reported to decline following the invasion of toxic cane toads. We monitored three populations of the species in the savanna woodland of tropical Australia over a 7‐year period bracketing toad arrival. One population crashed, one remained stable and one increased. Hence, studies on any single population might have inferred that cane toads have negative, negligible or positive effects on frillneck lizards. With the benefit of spatial replication, and in combination with observations of prey choice by captive lizards, our data suggest that invasive cane toads have had little or no effect on frillneck abundance.
Relationships among microclimate, edaphic conditions, vegetation distribution and soil nitrogen dynamics on the Bogong High Plains, Australia
Authors: HUBER EDITH , BELL TINA L. , SIMPSON ROBERT R. , ADAMS MARK A.
Published: April 2010

We examined microclimatic conditions and soil nitrogen (N) dynamics of different alpine plant community types on the Bogong High Plains in Victoria, Australia. Three community types are predominant in the High Plains region, namely grassland, heathland and woodland and together they form so‐called inverted treelines, with grassland in valley floors below the treeline. Outdoor temperature loggers were deployed in the three vegetation types to establish differences among microclimatic conditions. We incubated soils to determine rates of N production and collected additional soil samples for analysis of soil properties and soluble N. Temperature data showed that only grassland communities experienced sub‐zero temperatures in winter. Temperature and soil moisture influenced indices of N mineralization and N nitrification in this alpine ecosystem. Rates of N mineralization were significantly faster than nitrification that only produced consequential amounts of nitrate in summer. This information, together with considerably lower pools of nitrate than ammonium and organic N in the soil, implies that ammonium is the dominant form of soluble N in the ecosystem whereas nitrate most likely only has minor importance for plant nutrition. The results of this study provide insight into ecological processes of this alpine ecosystem and demonstrate the vulnerability of the system to altered climatic and edaphic conditions in the course of climate change.