bluuebunny/crossref_metadata_2025 huggingface dataset:
How to make the neighbourhood school a school for all?
Authors: Lakkala Suvi , Uusiautti Satu , Määttä Kaarina
Published: January 2014

A new special education strategy was launched in Finland by the Ministry of Education in 2007. The new Basic Act was enacted in 2010 and the new national core curriculum concerning three‐tiered support for pupils in 2011. Since the 1990s, teachers across Finland have participated in developing Finnish basic education towards greater inclusion. The goal of this study was to enhance understanding of the implementation of the Finnish educational reforms. In this study, teachers' perceptions of good inclusive teaching arrangements were analysed and compared with the theories of inclusive education. There is still a lack of information available on the implementation of inclusive education practices, and especially about teachers' experiences of teaching in inclusive classrooms. In 2010, basic education teachers (N = 327) in Lapland, Finland, were asked to describe their experiences and perceptions of inclusive teaching arrangements. The results indicated that teaching practices have become more diverse, flexible and differentiated, enabling teaching of diverse groups. More and more teachers preferred teaching in teams and planning their work together, showing that changes in schools change the teacher's profession too. In this study, a framework for inclusive schools was constructed through implementing the indexes of inclusion created by Booth and Ainscow.
Widespread infection and diverse infection patterns of Wolbachia in Chinese aphids
Authors: Wang Zhe , Su Xiao‐Min , Wen Juan , Jiang Li‐Yun , Qiao Ge‐Xia
Published: January 2014

Wolbachia are intracellular symbionts that infect a wide range of arthropods and filarial nematodes. Aphids are engaged in diverse and complex relationships with their endosymbionts. Four supergroups (A, B, M and N) of Wolbachia were previously detected in aphids and supergroups M and N were only found in aphids. In this study, we detected and described Wolbachia infections in natural populations of aphids in China. Three supergroups (A, B and M) were found in the examined aphid species. Supergroup M was preponderant, whereas supergroups A and B were only detected in certain species. Supergroup N was not found in this study. There were four infection patterns of Wolbachia in aphids, namely, infection with supergroup M alone, co‐infection with supergroups A and M, co‐infection with supergroups B and M, and co‐infection with supergroups A, B and M. The pattern of infection only with supergroup M was universal and was found in all evaluated subfamilies. Only two subfamilies, Aphidinae and Lachninae, manifested to present all four infection patterns. Three patterns were observed in Calaphidinae (M, A&M, B&M) and Eriosomatinae (M, B&M, A&B&M). Two patterns were observed in the Anoeciinae (M, A&M) and Greenideinae (M, B&M), and only one pattern (M) was observed in the remaining families and/or subfamilies of Aphidoidea. These results indicated that Wolbachia infections in Chinese aphids are widespread. Phylogenetic analyses suggest that Wolbachia supergroup M spread rapidly and recently among all host species of aphids in China. Reasons for this spread and its mechanisms are discussed along with the possible effects of Wolbachia on their aphid hosts.
Expression of B‐cell‐specific Moloney murine leukemia virus integration site 1 mRNA and protein in gastric cancer
Authors: Liu Peng Wei , Lin Yun , Chen Xiao Yu
Published: January 2014

Objective

To investigate the role of B‐cell‐specific Moloney murine leukemia virus integration site 1 (Bmi‐1) in gastric cancer (GC) and its relationship with the clinicopathological features of GC.

Methods

Laser capture microdissection combined with real‐time polymerase chain reaction and Western blot were used to determine the expressions of Bmi‐1, the cellular homologue of avian myelocytomatosis virus (c‐Myc), enhancer of Zeste homolog 2 (EZH2), phosphatase and tensin homologue (PTEN) and epithelial cadherin (E‐cadherin) in 20 GC specimens and the adjacent non‐cancerous gastric tissues.

Results

The mRNA and protein expressions of Bmi‐1 in GC were increased compared with those of the non‐cancerous gastric tissues (P = 0.012 and P = 0.000, respectively). Bmi‐1 mRNA expression was positively correlated with tumor size, degree of tumor differentiation, invasion and lymph node metastasis. At both mRNA and protein levels, Bmi‐1 was positively correlated with c‐Myc and EZH2, but negatively correlated with PTEN and E‐cadherin.

Conclusion

Bmi‐1 might be involved in GC at both transcription and translation levels.
Modelling geographical variation in voltinism of Hylobius abietis under climate change and implications for management
Authors: Wainhouse David , Inward Daegan J. G. , Morgan Geoffrey
Published: January 2014

Hylobius abietis develop in conifer root‐stumps and emerging adults attack replanted trees. Development is largely semi‐voltine and this is an important determinant of economic impact, influencing the length of a fallow period or the frequency of chemical control.

A simulation model followed a generation of weevils through the life cycle to predict voltinism based on temperature in the root‐stump microhabitat modelled from air temperature. Daily air temperatures for representative U.K. locations simulated from the U.K. Climate Projections 2009 Weather Generator for the 2030–2070s were used to predict the potential effect of climate change on voltinism.

The life cycle currently takes 2–3 years in the north and west (N&W) of the U.K. but, in the south and east (S&E), a 2‐year cycle predominates. From the 2030s onwards, a predominant 2‐year life cycle in the N&W was predicted to reduce economic impact in this region. In the S&E, however, the predicted 1–2‐year cycle would be unlikely to reduced the period over which pest management was required.

Changes in voltinism to the 2070s revealed different temporal patterns, emphasizing the importance for management of modelling local, as well as regional scale variation in the effects of climate change in Europe.
A tryptophan metabolite, kynurenine, promotes mast cell activation through aryl hydrocarbon receptor
Authors: Kawasaki H. , Chang H.‐W. , Tseng H.‐C. , Hsu S.‐C. , Yang S.‐J. , Hung C.‐H. , Zhou Y. , Huang S.‐K.
Published: January 2014

Background

Tryptophan metabolites have been suggested to play a role in immune modulation, wherein those have recently been shown to be endogenous ligands of aryl hydrocarbon receptor (AhR; a unique cellular chemical sensor). However, the involvement of tryptophan metabolites and AhR in modulating mast cell function remains to be fully defined. We therefore investigated that the functional impacts of tryptophan metabolites on human and mouse mast cell responses in vitro and their functional importance in vivo.

Methods

Three tryptophan metabolites, kynurenine (KYN), kynurenic acid (KA) and quinolinic acid (QA), were examined in terms of their effect on IgE‐mediated responses in mouse bone marrow‐derived mast cells (BMMCs) and in human peripheral blood‐derived cultured mast cells (HCMCs) and on in vivo anaphylactic responses. For evaluation of AhR involvement, we examined the responses of mast cells from AhR‐null or AhR‐wild‐type mice with the use of a known AhR antagonist, CH223191.

Results

Kynurenine, but not KA and QA, enhanced IgE‐mediated responses, including degranulation, LTC4 release, and IL‐13 production in BMMCs through the activation of PLCγ1, Akt, MAPK p38, and the increase of intracellular calcium. KYN also enhanced cutaneous anaphylaxis in vivo. These enhancing effects of KYN were not observed in AhR‐deficient BMMCs and could be inhibited by CH223191 in BMMCs. Further, KYN had similar enhancing effects on HCMCs, which were inhibited by CH223191.

Conclusion

The AhR‐KYN axis is potentially important in modulating mast cell responses and represents an example of AhR's critical involvement in the regulation of allergic responses.
Persistence of elevated deamidated gliadin peptide antibodies on a gluten‐free diet indicates nonresponsive coeliac disease
Authors: Spatola B. N. , Kaukinen K. , Collin P. , Mäki M. , Kagnoff M. F. , Daugherty P. S.
Published: January 2014

Background

Histologically nonresponsive coeliac disease (NRCD) is a potentially serious condition diagnosed during the follow‐up of coeliac disease (CD) when patients have persistent villous atrophy despite following a gluten‐free diet (GFD).

Aim

As current assessments of recovery are limited to invasive and costly serial duodenal biopsies, we sought to identify antibody biomarkers for CD patients that do not respond to traditional therapy.

Methods

Bacterial display peptide libraries were screened by flow cytometry to identify epitopes specifically recognised by antibodies from patients with NRCD, but not by antibodies from responsive CD patients. Deamidated gliadin was confirmed to be the antigen mimicked by library peptides using ELISA with sera from NRCD (n = 15) and responsive CD (n = 45) patients on a strict GFD for at least 1 year.

Results

The dominant consensus epitope sequence identified by unbiased library screening QPxx(A/P)FP(E/D) was highly similar to reported deamidated gliadin peptide (dGP) B‐cell epitopes. Measurement of anti‐dGP IgG titre by ELISA discriminated between NRCD and responsive CD patients with 87% sensitivity and 89% specificity. Importantly, dGP antibody titre correlated with the severity of mucosal damage indicating that IgG dGP titres may be useful to monitor small intestinal mucosal recovery on a GFD.

Conclusions

The finding of increased levels of anti‐dGP IgG antibodies in CD patients on strict GFDs effectively identifies patients with NRCD. Finally, anti‐dGP IgG assays may be useful to monitor mucosal damage and histological improvement in CD patients on a strict GFD.
Social isolation schema responds to positive social experiences: Longitudinal evidence from vulnerable populations
Authors: Cruwys Tegan , Dingle Genevieve A. , Hornsey Matthew J. , Jetten Jolanda , Oei Tian P. S. , Walter Zoe C.
Published: January 2014

Objectives

Maladaptive schemas are stable cognitive working models of the world, learnt early in life, that interfere with effective functioning and underlie chronic mental illness. A major challenge for cognitive therapy has been how to modify schemas when they are so enduring and stable. We propose that because maladaptive schemas are formed through social experiences (typically abusive or neglectful ones), they might best be corrected through positive social experiences that directly challenge the schema.

Design

Two longitudinal studies were conducted, one with patients undergoing group cognitive‐behavioural therapy (N = 92) and one with homeless individuals residing in temporary accommodation (N = 76).

Method

In each study, social isolation schema was measured at Time 1 and again at Time 2 following a group‐based social experience (group psychotherapy or temporary residence at a community organization). A positive experience of group life was operationalized as social identification with the therapy group in Study 1 or the community organization in Study 2.

Results

In both studies, social identification led to a significant reduction in social isolation schema. Study 2 indicated that these effects were fully mediated by the formation of ties to new social groups, such that social identification scaffolded the development of new group memberships, which in turn decreased the endorsement of maladaptive schema.

Conclusions

Social identification facilitates the correction of socially situated schema such as social isolation.

Practitioner points

Maladaptive schemas are modifiable in short‐term therapy or even in community settings.

The experience of being accepted and belonging to a social group can challenge a person's deep‐seated belief that they are socially isolated.

Positive social experiences may act as scaffolding to help socially isolated individuals build new social group memberships.

Less positively, social isolation schema can also act as a feedback loop, preventing people from identifying with groups, resulting in a negative social experience that may further embed the schema.

Further research is needed to determine how clinicians might facilitate social identification.
The Unexpected Appearance of a New German Model
Authors: Eichhorst Werner
Published: January 2014

Most Continental European labour markets and welfare states have experienced a substantial transformation. Germany is a case in point as it exhibits increasing levels of employment and a growing share of low pay and non‐standard work. The article claims that changes in labour market institutions play a major role, but changes in industrial relations at the sectoral level and individual firms' staffing practices are equally important. Regarding labour market institutions, the pattern found in Germany shows sequences of reforms addressing the margins of the labour market and contributing to a growing dualization of employment. This dualization trend was reinforced by micro‐level dynamics in industrial relations and company employment practices, where we can observe growing reliance on mechanisms of internal flexibility for the skilled core workforce and increasing use of non‐standard types of employment in less specifically skilled occupations, in particular in the private service sector. Hence, the adjustment of the German model can only be understood by taking into account the interaction of policy change and actors' adaptive behaviour.
Oil and gas infrastructure and the spatial pattern of grizzly bear habitat selection in Alberta, Canada
Authors: Laberee Karen , Nelson Trisalyn A. , Stewart Benjamin P. , McKay Tracy , Stenhouse Gordon B.
Published: January 2014

Oil and gas development is increasing in areas of Alberta, Canada that are also home to threatened grizzly bear (Ursus arctos) populations. While impacts of forest disturbances on bears have been heavily studied, research on the impacts of oil and gas activities is limited. Our research goal was to test the hypothesis that grizzly bears select locations of oil and gas development randomly, using grizzly bear telemetry data collected from 2005 to 2010 in the Kakwa region of Alberta. Maps of probability of resource use by bears were generated and used to conditionally randomize telemetry data to classify bear locations as being closer, farther, or no different than expected from oil and gas features. Our results indicated that bears were generally observed closer to oil and gas features during spring. Adult males were farther than expected to all features during the summer season. During fall, adult females showed avoidance of all oil and gas features during the day, but were closer at night. Active wellsites were avoided by all bears in the fall, and roads were avoided more than pipelines. Spatial analysis and geographic information science are ideal tools for examining the influence of landscape features on wildlife.
Relations Among Chronic Peer Group Rejection, Maladaptive Behavioral Dispositions, and Early Adolescents' Peer Perceptions
Authors: Ladd Gary W. , Ettekal Idean , Kochenderfer‐Ladd Becky , Rudolph Karen D. , Andrews Rebecca K.
Published: January 2014

Adolescents' perceptions of peers' relational characteristics (e.g., support, trustworthiness) were examined for subtypes of youth who evidenced chronic maladaptive behavior, chronic peer group rejection, or combinations of these risk factors. Growth mixture modeling was used to identify subgroups of participants within a normative sample of youth (N = 477; 50% female) for whom data had been gathered from fifth grade (Mage = 10.61) through eighth grade (Mage = 13.93). Results revealed that both enduring individual vulnerability (i.e., chronic withdrawn or chronic aggressive behavioral dispositions) and interpersonal adversity (i.e., chronic peer group rejection) were linked with either differences or changes in adolescents' perceptions of their peers' supportiveness and trustworthiness across the early adolescent age period.
Circulating TSLP associates with decreased wheezing in non‐atopic preschool children: data from the URECA birth cohort
Authors: Demehri S. , Yockey L. J. , Visness C. M. , Jaffee K. F. , Turkoz A. , Wood R. A. , O'Connor G. T. , Kattan M. , Gern J. E. , Gergen P. J. , Holtzman M. , Bloomberg G. , Kopan R.
Published: January 2014

Background

Mouse models of atopic march suggest that systemic, skin‐derived thymic stromal lymphopoietin (TSLP) mediates progression from eczema to asthma.

Objective

We investigated whether circulating TSLP is associated with eczema, allergic sensitization, or recurrent wheezing in young children.

Methods

A prospective analysis of the relationship between plasma levels of TSLP to allergic sensitization and recurrent wheezing was conducted in the birth cohort from the Urban Environment and Childhood Asthma (URECA) study. Plasma TSLP levels were measured at 1, 2, and 3 years of age and analysed for correlation with clinical parameters in each of the three years. Only those children with consecutive samples for all three years were included in this analysis.

Results

We detected TSLP in 33% of 236 children for whom plasma samples were available for all three years. Overall, a consistently significant association was not found between TSLP and eczema or allergic sensitization. With regard to recurrent wheezing, children with detectable TSLP at one year of age were significantly less likely to experience recurrent wheezing by 3 years compared with those children without detectable TSLP, but this was only seen in children without aeroallergen sensitization at 3 years (P < 0.01).

Conclusions and Clinical Relevance

Contrary to our expectations, circulating TSLP was not significantly associated with eczema, allergen sensitization, or recurrent wheezing during the first three years of life. Early presence of circulating TSLP was significantly associated with reduced incidence of recurrent wheeze in those children not sensitized to aeroallergen. These findings suggest a possible underlying distinction between pathogenesis of developing atopic vs. non‐atopic recurrent wheeze.
No significant difference in the prognostic value of the 5th and 7th editions of AJCC staging for differentiated thyroid cancer
Authors: Vrachimis Alexis , Gerss Joachim , Stoyke Maren , Wittekind Christian , Maier Tobias , Wenning Christian , Rahbar Kambiz , Schober Otmar , Riemann Burkhard
Published: January 2014

Objective

The seventh edition of the American Joint Committee on Cancer (AJCC) has more detailed staging categories for differentiated thyroid cancer (DTC) than the fifth edition. The aim was to compare potential alterations in the disease‐specific (DSS), event‐free (EFS) and overall survival (OS), after reclassification from the fifth to the seventh edition.

Methods

Data of 2460 patients with DTC referred to our centre were reclassified from the fifth to the seventh edition of AJCC. DSS, EFS and OS were calculated using the Kaplan‐Meier method and compared by the log‐rank test. The relative abilities of each edition to predict survival were calculated by the proportion of variance explained (PVE).

Results

After reclassification to the seventh edition, there was an increase in stage I and IV patients from 58·1% to 65·0% and from 6·2% to 10·1%, respectively, and a corresponding decrease in stage II and III patients from 22·4% to 12·5% and 13·3% to 12·4%, respectively. As to DSS, the seventh edition had only a marginally higher PVE value than the fifth edition. With respect to EFS, the predictability of the seventh edition was even inferior to that of the fifth edition. Similarly, with regard to OS, the PVE value was slightly better for the older edition. Furthermore, a comparison only for those patients affected by the reclassification revealed no differences for DSS, EFS or OS between classifications.

Conclusion

When comparing the stages of the seventh with the fifth edition of the AJCC for DTC, there was no significant difference in predicting DSS, EFS and OS.
Historical control data on developmental toxicity studies in rodents
Authors: Ema Makoto , Endoh Katsumi , Fukushima Ryou , Fujii Sakiko , Hara Hiroaki , Hirata‐Koizumi Mutsuko , Hirose Akihiko , Hojo Hitoshi , Horimoto Masao , Hoshino Nobuhito , Hosokawa Yoshinori , Imai Yukari , Inada Hiroshi , Inawaka Kunifumi , Itoh Keiichi , Katsumata Yoshihiro , Izumi Hiroyuki , Kato Hirohito , Maeda Maki , Matsumoto Kiyoshi , Matsuo Seiki , Matsuoka Toshiki , Matsuura Ikuo , Mineshima Hiroshi , Miwa Yoji , Nakano Nao , Naya Masato , Noyori Hiroko , Ohta Takafumi , Oku Harutaka , Ono Atsushi , Shimizu Tatsuya , Shimomura Kazuhiro , Takakura Ikuro , Tanaka Ryota , Tateishi Taishi , Tominaga Yuko , Uesugi Tohru , Urakawa Chizuru , Yabe Kaoru , Yamashita Akihito , Yamauchi Toshiaki , Yokoi Ryohei
Published: January 2014

Historical control data on rodent developmental toxicity studies, performed between 1994 and 2010, were obtained from 19 laboratories in Japan, including 10 pharmaceutical and chemical companies and nine contract research organizations. Rats, mice, and hamsters were used for developmental toxicity studies. Data included maternal reproductive findings at terminal cesarean sections and fetal findings including the spontaneous incidences of external, visceral, and skeletal anomalies. No noticeable differences were observed in maternal reproductive data between laboratories. Inter‐laboratory variations in the incidences of fetuses with anomalies appeared to be due to differences in the selection of observation parameters, observation criteria, classification of the findings, and terminology of fetal alterations. Historical control data are useful for the appropriate interpretation of experimental results and evaluation of the effects of chemical on reproductive and developmental toxicities.
Subfatin is a Novel Adipokine and Unlike Meteorin in Adipose and Brain Expression
Authors: Li Zhi‐Yong , Zheng Si‐Li , Wang Pei , Xu Tian‐Ying , Guan Yun‐Feng , Zhang Yi‐Jie , Miao Chao‐Yu
Published: January 2014

Aims

Adipose tissue releases adipokines that play important roles in metabolic and cardio‐cerebro‐vascular homeostasis. This study was to discover novel adipokines using caloric restriction model.

Methods

Adipokine candidates were captured by gene array and bioinformatics analysis and verified by preparation of recombinant protein and antibody.

Results

We established a potential secreted protein database containing 208 genes and identified a novel adipokine, Subfatin, that was the highest expressed in subcutaneous fat of both rodents and humans among 15 detected tissues. The secreted mammalian Subfatin was a glycosylated protein. Subfatin was located diffusely throughout the adipose tissue except lipid droplets, with comparable expression between adipocytes and stromal cells, but much lower expression in macrophages than adipocytes. Subfatin was downregulated in white adipose tissue of caloric restriction rats, whereas dramatically upregulated during white adipocyte differentiation as well as in white adipose tissue of diet‐induced obese mice. Subfatin was annotated as Meteorin‐like (Metrnl) in public databases, a similar transcript of Meteorin (Metrn, also known as glial cell differentiation regulator). Meteorin displayed a brain‐specific expression and was scarce in various adipose tissues, in contrast to the tissue expression patterns of Subfatin.

Conclusions

Subfatin is a novel adipokine regulated by adipogenesis and obesity, with tissue distribution different from its homologue Meteorin.
A universal, accurate intensity‐based classification of different physical activities using raw data of accelerometer
Authors: Vähä‐Ypyä Henri , Vasankari Tommi , Husu Pauliina , Suni Jaana , Sievänen Harri
Published: January 2014

Objective

Accelerometers are increasingly used for objective assessment of physical activity. However, because of lack of the proprietary analysis algorithms, direct comparisons between accelerometer brands are difficult. In this study, we propose and evaluate open source methods for commensurate assessment of raw accelerometer data irrespective of the brand.

Design

Twenty‐one participants carried simultaneously three different tri‐axial accelerometers on their waist during five different sedentary activities and five different intensity levels of bipedal movement from slow walking to running. Several time and frequency domain traits were calculated from the measured raw data, and their performance in classifying the activities was compared.

Results

Of the several traits, the mean amplitude deviation (MAD) provided consistently the best performance in separating the sedentary activities and different speeds of bipedal movement from each other. Most importantly, the universal cut‐off limits based on MAD classified sedentary activities and different intensity levels of walking and running equally well for all three accelerometer brands and reached at least 97% sensitivity and specificity in each case.

Conclusion

Irrespective of the accelerometer brand, a simply calculable MAD with universal cut‐off limits provides a universal method to evaluate physical activity and sedentary behaviour using raw accelerometer data. A broader application of the present approach is expected to render different accelerometer studies directly comparable with each other.
Guidelines for future research in constraint‐induced movement therapy for children with unilateral cerebral palsy: an expert consensus
Authors: Eliasson Ann Christin , Krumlinde‐Sundholm Lena , Gordon Andrew M , Feys Hilde , Klingels Katrijn , Aarts Pauline B M , Rameckers Eugene , Autti‐Rämö Ilona , Hoare Brian
Published: January 2014

Aim

The aim of this study was to provide an overview of what is known about constraint‐induced movement therapy (CIMT) in children with unilateral cerebral palsy (CP), to identify current knowledge gaps, and to provide suggestions for future research.

Method

Nine experts participated in a consensus meeting. A comprehensive literature search was conducted and data were summarized before the meeting. The core model produced by the European network for Health Technology Assessment was used as a framework for discussion and to identify critical issues for future research.

Results

All models of CIMT have demonstrated improvements in the upper limb abilities of children with unilateral CP. A consensus was reached on 11 important questions to be further explored in future studies. The areas of highest priority included the effect of dosage, the effect of repeated CIMT, and the impact of predictive factors, such as age, on the response to CIMT. Consensus suggestions for future study designs and the use of validated outcome measures were also provided.

Interpretation

The CIMT construct is complex, and much remains unknown. It is unclear whether a specific model of CIMT demonstrates superiority over others and whether dosage of training matters. Future research should build upon existing knowledge and aim to provide information that will help implement CIMT in various countries with different health care resources and organizational structures.
Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases
Authors: Romaniello Romina , Arrigoni Filippo , Cavallini Anna , Tenderini Erika , Baschirotto Cinzia , Triulzi Fabio , Bassi Maria‐Teresa , Borgatti Renato
Published: January 2014

Aim

The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin.

Method

In total, 79 out of 156 patients (41 males, 38 females; age range 8mo–55y (mean age 13y 3mo, SD 11y 2mo) with a neuroradiological diagnosis of MCDs were enrolled in the study. The 77 excluded patients were excluded for the following reasons: suspected or proven diagnosis of pre‐ or perinatal ischaemic insult (n=13); syndromic disease (n=10); congenital infection (n=14); pregnancy complicated by twin‐to‐twin transfusion syndrome (n=2); proven mutations in known genes (n=13); poor magnetic resonance imaging (MRI) quality, or lack of informed consent (n=25). A genetic analysis of the TUBA1A, TUBB2B and TUBB3 genes was carried out by direct sequencing of the coding regions of the relevant genes for each participant. Previously described patients with mutations in the TUBB2B and TUBA1A genes were reviewed; clinical and neuroradiological findings were compared and discussed.

Results

Two novel heterozygous mutations were detected: a heterozygous mutation in exon 4 of the TUBA1A gene (c.1160C>T) in a 5‐year‐old female with microcephaly, severe intellectual disability, and absence of language, and a c.1080 _1084del CCTGAinsACATCTTC in exon 4 of the TUBB2B gene in a 31‐year‐old female with microcephaly, spastic tetraparesis, severe intellectual disability, and scoliosis. Different types of cortical abnormalities, cerebellar vermis hypoplasia, and optic nerve hypoplasia/atrophy were detected on MRI. Dysmorphisms of the basal ganglia and the hippocampi with abnormalities of the midline commissural structures were present in both cases.

Interpretation

The consistent presence of hypoplastic and disorganized white matter tracts suggests that, in addition to defects in neuronal migration, disruption of axon growth and guidance is a peculiar feature of tubulin‐related disorders.
Neighboring genes shaping a single adaptive mimetic trait
Authors: Pardo‐Diaz Carolina , Jiggins Chris D.
Published: January 2014

The colorful wing patterns of Heliconius butterflies represent an excellent system in which to study the genetic and developmental control of adaptation and convergence. Using qRT‐PCR and in situ hybridization on developing wings of the co‐mimic species Heliconius melpomene and Heliconius erato, we have profiled the expression of three candidate genes located in the genomic locus controlling red color pattern variation. We found convergent domains of gene expression in H. melpomene and H. erato associated with red wing elements in the two genes optix and kinesin. During early pupal development of both species, the expression of optix perfectly associated with all red pattern elements whereas that of kinesin was specifically correlated with the presence of the red forewing band. These results provide evidence for the use of these two tightly linked patterning genes, acting together to create convergent wing phenotypes in Heliconius and constituting a hotspot of adaptation.
Evaluating scenarios for the evolutionary assembly of the brachiopod body plan
Authors: Murdock Duncan J. E. , Bengtson Stefan , Marone Federica , Greenwood Jenny M. , Donoghue Philip C. J.
Published: January 2014

The fossil faunas of the Cambrian provide the only direct insight into the assembly of animal body plans. However, for many animal groups, their early fossil record is linked to disarticulated remains, interpretation of which is problematic since they possess few characters from which their affinity to phyla can be established and, indeed, few characters at all. One such group is the tommotiids, which has been interpreted, on the basis of skeletal anatomy, as a paraphyletic assemblage uniting brachiopods and phoronids, through the acquisition and subsequent modification, or loss, of an imbricated set of dorsal phosphatic sclerites. Here we present a reexamination of the fossil evidence uniting the tommotiids and brachiopods, supplemented with new anatomical data from synchrotron radiation X‐ray tomographic microscopy of key tommotiid taxa. The characters used to support the complex hypothesis of character evolution in the brachiopod stem lineage relies on scleritome reconstructions and inferred mode of life which themselves rely on brachiopods being chosen as the interpretative model. We advocate a more conservative interpretation of the affinity of these fossils, based a priori on their intrinsic properties, rather than the modern analogue in whose light they have been interpreted.
The lateral mesodermal divide: an epigenetic model of the origin of paired fins
Authors: Nuño de la Rosa Laura , Müller Gerd B. , Metscher Brian D.
Published: January 2014

By examining development at the level of tissues and processes, rather than focusing on gene expression, we have formulated a general hypothesis to explain the dorso‐ventral and anterior–posterior placement of paired appendage initiation sites in vertebrates. According to our model, the number and position of paired appendages are due to a commonality of embryonic tissue environments determined by the global interactions involving the two separated layers (somatic and visceral) of lateral plate mesoderm along the dorso‐ventral and anterior–posterior axes of the embryo. We identify this distribution of developmental conditions, as modulated by the separation/contact of the two LPM layers and their interactions with somitic mesoderm, ectoderm, and endoderm as a dynamic developmental entity which we have termed the lateral mesodermal divide (LMD). Where the divide results in a certain tissue environment, fin bud initiation can occur. According to our hypothesis, the influence of the developing gut suppresses limb initiation along the midgut region and the ventral body wall owing to an “endodermal predominance.” From an evolutionary perspective, the lack of gut regionalization in agnathans reflects the ancestral absence of these conditions, and the elaboration of the gut together with the concomitant changes to the LMD in the gnathostomes could have led to the origin of paired fins.
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood
Authors: van de Warrenburg B. P. C. , van Gaalen J. , Boesch S. , Burgunder J.‐M. , Dürr A. , Giunti P. , Klockgether T. , Mariotti C. , Pandolfo M. , Riess O.
Published: January 2014

Background and objectives

The ataxias are a challenging group of neurological diseases due the aetiological heterogeneity and the complexity of the genetic subtypes. This guideline focuses on the heredodegenerative ataxias. The aim is to provide a peer‐reviewed evidence‐based guideline for clinical neurologists and other specialist physicians responsible for the care of patients with ataxia.

Methods

This guideline is based on systematic evaluations of the relevant literature and on three consensus meetings of the task force.

Diagnosis

If acquired causes are ruled out, and if the disease course is rather slowly progressive, a (heredo)degenerative disease is likely. A positive family history gives much guidance. In the case of a dominant family history, first line genetic screening is recommended for spinocerebellar ataxia (SCA) 1, 2, 3, 6, 7 and 17 (level B), and in Asian patients also for dentatorubral‐pallidoluysian atrophy (DRPLA). In the case of recessive disease, a stepwise diagnostic work‐up is recommended, including both biochemical markers and targeted genetic testing, particularly aimed at Friedreich's ataxia, ataxia telangiectasia, ataxia due to vitamin E deficiency, polymerase gamma gene (POLG gene, various mutations), autosomal recessive spastic ataxia of Charlevoix−Saguenay (ARSACS) and ataxia with oculomotor apraxia (AOA) types 1 and 2. If family history is negative, we still advise to screen for the more common dominant and recessive ataxias. In addition, if onset is below 45 years we recommend the full work‐up for recessive ataxias; if onset is above 45 years we recommend to screen for fragile X mental retardation 1 FMR1 premutations (good practice points). In sporadic cases with an onset after 30 years, a diagnosis of multiple system atrophy should be considered (good practice point). In particular the genetic work‐up will change over the upcoming years due to the diagnostic utility of new techniques such as gene panel diagnostics based on next generation sequencing for routine work‐up, or even whole exome and genome sequencing for selected cases.

Treatment

Some of the rare recessive ataxias are treatable, but for most of the heredodegenerative ataxias treatment is purely symptomatic. Idebenone is not effective in Friedreich's ataxia (level A). Riluzole (level B) and amantadine (level C) might provide symptomatic relief, irrespective of exact etiology. Also, varenicline for SCA3 patients (level B) can be considered. There is level Class II evidence to recommend physiotherapy, and Class III data to support occupational therapy.
Biomarkers of epileptogenic zone defined by quantified stereo‐EEG analysis
Authors: Gnatkovsky Vadym , de Curtis Marco , Pastori Chiara , Cardinale Francesco , Lo Russo Giorgio , Mai Roberto , Nobili Lino , Sartori Ivana , Tassi Laura , Francione Stefano
Published: January 2014

Objective

In one third of patients with a diagnosis of pharmacoresistant focal epilepsy who are candidates for therapeutic surgery, cerebral areas responsible for seizure generation can be defined exclusively with invasive intracranial recordings. A correct presurgical identification of the epileptogenic zone (EZ) with intracranial electrodes has a direct impact on postsurgical outcome. We aimed at identifying biomarkers of the EZ based on computer‐assisted inspection of intracranial electroencephalography (EEG).

Methods

Computer‐driven intracranial EEG analysis in the domains of time, frequency, and space was retrospectively applied to a population of 10 patients with focal epilepsy to detect EZ electrophysiologic markers. Next, a prospective study was performed on 14 surgery candidate patients. The stereo‐EEG computer‐assisted analysis of EZ boundaries performed blind from patients data was compared to that defined with the traditional visual inspection completed by neurophysiologists.

Results

In the retrospective study, the EZ was characterized by the combined detection of three biomarkers observed at seizure onset: (1) fast activity at 80–120 Hz associated with (2) very slow transient polarizing shift and (3) voltage depression (flattening). Correlations between these indexes were calculated for each seizure. In the prospective study, the quantified analysis based on the three biomarkers confirmed a complete overlap between leads within the EZ identified by expert clinicians. In 2 of 14 patients the proposed biomarkers partially identified the EZ.

Significance

Our findings demonstrate and validate with a prospective unbiased study the use of three neurophysiologic intracranial EEG parameters as excellent biomarkers of ictogenesis and as reliable indicators of EZ boundaries.
Simultaneous subdural and scalpEEGcorrelates of frontal lobe epileptic sources
Authors: Ramantani Georgia , Dümpelmann Matthias , Koessler Laurent , Brandt Armin , Cosandier‐Rimélé Delphine , Zentner Josef , Schulze‐Bonhage Andreas , Maillard Louis Georges
Published: January 2014

Objective

To assess the visibility and detectability in scalp electroencephalography (EEG) of cortical sources in frontal lobe epilepsy (FLE) as to their localization, and the extent and amplitude of activation.

Methods

We analyzed the simultaneous subdural and scalp interictalEEGrecordings of 14 patients with refractory frontal lobe epilepsy (FLE) associated with focal cortical dysplasia. Subdural spike types were identified and averaged for source localization and detection of their scalpEEGcorrelates. Both raw and averaged scalpEEGsegments were reviewed for spikes, blinded to subdural segments. We further analyzed the correlation of spike‐to‐background amplitude ratios in subdural and scalpEEG.

Results

We identified 36 spike types in subduralEEG, corresponding to 29 distinct sources. Four of 29 sources werevisibleby visual evaluation of scalpEEGand six additional sources weredetectableafter averaging: four in the medial frontal, two in the dorsolateral gyri, two in the depth of dorsolateral sulci, and two in the basal frontal region. Cortical sources generating scalp‐detectable spikes presented a median of 6 cm2of activated cortical convexity surface and a subdural spike‐to‐background‐amplitude ratio >8. These sources were associated with a higher number of activated subdural grid contacts and a higher subdural spike‐to‐background amplitude ratio than sources generating non–scalp‐detectable spikes.

Significance

Not only dorsolateral but also basal and medial sources can be detectable inFLE. This is the first in vivo demonstration derived from simultaneous subdural and scalpEEGrecordings of the complementary significance of extensive source activation and higher subdural spike‐to‐background amplitude ratio in the detection of cortical sources inFLE.
Dawn Singing Intensity of the Male Brownish‐Flanked Bush Warbler: Effects of Territorial Insertions and Number of Neighbors
Authors: Xia Canwei , Wei Chentao , Lloyd Huw , Liu Jiayu , Wu Qiao , Zhang Yanyun
Published: January 2014

The dawn chorus is a period of peak singing activity of many songbirds. Numerous studies have sought to understand this widespread phenomenon, and many hypotheses have been proposed to explain the dawn chorus. The social dynamics hypothesis proposes that dawn singing plays an important role in the announcement of territorial occupancy and the regulation of social relationships between males; it predicts that the dawn chorus vocal behavior varies with changes in social relationships. In this study, we tested the influence of territorial insertions and the number of neighbors, on the intensity of the brownish‐flanked bush warbler (Cettia fortipes)'s dawn singing. We found that simulated territorial insertions (playback) caused the males to increase their dawn singing significantly the next day, and males that had many neighbors exhibited more intense dawn singing than did males with few neighbors. Our study provides evidence that dawn singing plays an important role in the announcement of territorial occupancy and the regulation of the social relationships between the males.
Why International Trusteeship Fails: The Politics of External Authority in Areas of Limited Statehood
Authors: Lake David A. , Fariss Christopher J.
Published: January 2014

International trusteeship is widely touted as a solution to the problem of failed states, an extreme form of limited statehood. Current theories of legitimacy and statebuilding suggest that trusteeships should produce more capable states. These theories, however, fail to take into account the self‐interest and political strategies available to trustees and politicians within new states. We pose a more political model of statebuilding by the international community, the trustee, and national politicians that predicts that trusteeship will fail to produce states with greater capacity. We test for the effects of trusteeship on state capacity, measured by service provision, by creating a matched sample of countries. We find that there is no evidence that states under trusteeship develop greater capacity leading to better provision of public goods than comparable states not under trusteeship. Would‐be statebuilders must be more aware of the political incentives of all parties involved in the process.
Transnational Partnerships: Conditions for Successful Service Provision in Areas of Limited Statehood
Authors: Beisheim Marianne , Liese Andrea , Janetschek Hannah , Sarre Johanna
Published: January 2014

Transnational public–private partnerships (PPPs) are external governance actors in the field of development cooperation and vary in composition, potentially including nonprofit and for‐profit organizations, state and public agencies, and intergovernmental organizations. This article analyzes the conditions under which PPPs have been successful in providing access to basic services (water, sanitation, and food) in areas of limited statehood in Bangladesh, India, and Kenya. We focus on 10 projects carried out by two PPPs that differ in two key respects: legitimacy and institutional design. We show that partnerships with high empirical legitimacy and an appropriate institutional design are best able to fulfill complex tasks in contexts of limited statehood. A participatory approach can promote legitimacy and thus success; projects that lack legitimacy are prone to failure. Additionally, a project's institutional design must address problems that commonly affect areas of limited statehood: It should provide access to resources for capacity development, ensure adequate monitoring, and be tailored to local needs.
Esophageal actinomycosis in a patient with end‐stage renal disease
Authors: Nagaraju Shankar Prasad , Kirpalani Dilip Ashok , Bhabhe Aditya S. , Prasad Raghvendra , Shah Hardik , Kirpalani Ashok L.
Published: January 2014

Actinomycosis of esophagus is uncommon. Herpes simplex virus, cytomegalovirus, candidiasis, tuberculosis, and other fungal infections are the commonly reported infections in both immunocompromised and immunocompetent patients. We report a case of esophageal actinomycosis in an end‐stage renal disease patient. A 28‐year‐old lady, known case of systemic lupus erythematosus, hepatitis B virus infection with end‐stage renal disease on regular maintenance hemodialysis since 5 years presented with history of epigastric pain and odynophagia for 1 week. Her upper gastrointestinal endoscopic examination revealed extensive necrotic areas with membrane in the esophagus. Histopathology revealed actinomycotic colonies and bacterial clumps. She was treated with intravenous penicillin followed by oral ampicillin for 6 months. She showed marked clinical improvement, and repeat endoscopy showed healing of ulceration and no evidence of actinomycosis.
Reprocessing high‐flux polysulfone dialyzers does not negatively impact solute removal in short‐daily online hemodiafiltration
Authors: Melo Natalia C. V. , Moyses Rosa M. A. , Elias Rosilene M. , Castro Manuel C. M.
Published: January 2014

There are no studies evaluating the impact of dialyzer reprocessing on solute removal in short‐daily online hemodiafiltration (OL‐HDF). Our aim was to evaluate the impact of dialyzer reuse on solute removal in daily OL‐HDF and compare with that in high‐flux short‐daily hemodialysis (SDH). Fourteen patients undergoing a SDH program were included. Pre‐dialysis and post‐dialysis blood samples and effluent dialysate were collected in the 1st, 7th, and 13th dialyzer uses in SDH sessions and in daily OL‐HDF sessions. Directly quantified small solute (urea, phosphorus, creatinine, and uric acid) total mass removal (TMDQ) and clearance (KDQ) were similar when the 1st, 7th, and 13th dialyzer SDH uses were compared with the 1st, 7th, and 13th daily OL‐HDF uses. TMDQ and KDQ of small solutes were similar among analyzed dialyzer uses in SDH sessions and in daily OL‐HDF sessions. β2‐Microglobulin TMDQ and KDQ were statistically higher in daily OL‐HDF dialyzer uses than in the respective SDH uses. There was no difference in β2‐microglobulin TMDQ and KDQ among dialyzer uses in daily OL‐HDF sessions or in SDH sessions. In daily OL‐HDF, albumin loss was significantly different among dialyzer uses (P < 0.001), being lower in the 7th and 13th dialyzer uses than in the first use. Dialyzer reprocessing did not impair solute extraction in daily OL‐HDF. β2‐Microglobulin removal was greater in daily OL‐HDF than in SDH sessions, without significant differences in other solutes extraction. There was a significant reduction in intradialytic albumin loss with dialyzer reprocessing in daily OL‐HDF sessions.