bluuebunny/crossref_metadata_2025 huggingface dataset:
Urethroplasty in hypoplastic-dysplastic corpus spongiosum and short urethra
Authors: Vitarelli Antonio , Divenuto Lucia , Altomare Mauro , Masiello Giuseppe , Pagliarulo Arcangelo
Published: February 2013

Congenital penile curvature and chordee are a rare malformative condition most frequently associated with hypospadias, but varying degrees of penile curvature are observed with an orthotopic meatus. Disease becomes evident after puberty, when curvature becomes more apparent with erection. We present a case of a young man (16 years old), with ventral congenital penile curvature without hypospadias and with hypoplastic-dysplastic corpus spongiosum and short urethra, who could not have normal sexual intercourses. The patient underwent first-stage urethroplasty with urethral opening and graft of buccal mucosa and creation of a temporary hypospadic meatus. No post-operative complications were observed. There were no residual penile curvatures. Results are promising and satisfactory after the first surgical stage and provide a solid ground for the final reconstruction.
Quality Criteria in Visual A/r/tography Photo Essays: European Perspectives After Daumier’s Graphic Ideas
Authors: Ricardo Marín-Viadel , Joaquín Roldán
Published: February 2013

A research photo essay in visual a/r/tography is a coherent, systematic, and original group of visual images about education (or any other social science). This relatively recent research methodology essentially produces new visual images about educational questions. Like any other research methodology, visual a/r/tography assumes (a) certain basic epistemological positions, (b) distinctive methodological strategies, and (c) specific quality criteria. We suggest five different paths to identify assessment criteria, the most important of these residing in the development of a framework of correspondences between quality criteria usually applied to research reports based on words (sentences, paragraphs, verbal thinking) and those based on visual images (photos, photo essays, visual thinking).
Research Into Practice and A/r/tography: A Study of Kinship
Authors: Biggs Michael , Büchler Daniela
Published: February 2013

Using a model of kinship from Cohen, we describe our interaction with other arts research communities and examine our lived experiences with them over more than a decade. We refer to objective "evidence" in the form of documentation and production, encounters and conversations, told through our own perception of our community and of the other communities. The inquiry reveals both national differences and a variety of distinct intellectual frameworks, structures, institutional variations, and limitations among arts-based research communities in the UK, Canada, Australia, and Scandinavia. In particular, we find in the UK-based research of Biggs and Büchler, and the Canadian-based work of Springgay, Irwin, and Kind, fundamental genealogical roots that allow us to conclude that, despite their differences, they are kindred.
Paradox in A/r/tography: Collective Short Animated Film-Making for Social Inclusion
Authors: Madrid Marta
Published: February 2013

This article reflects on a/r/tography as a practice-based research methodology and as a strategy for inclusivity applied to a collective creative process with a group of diverse children and teenagers creating audiovisual animated narratives. The aim of the educative experience is to create an opportunity for young people with interpersonal difficulties (family, health, or social issues) to interact with young people without such difficulties in a common creative activity. In this article I narrate how it was necessary to move away from the pre-determined syllabus in order to attend to the young peoples’ interests of studying their biographies and collective narrative inquiries. I also address my experience of facing the impossible research goal of "full equal participation" and the necessity to come to terms with contradictory intentions, actions, and results. As a result, I propose "paradox" as a key concept in a/r/tography.
A/r/tography and Place Ontology
Authors: Hannigan Shelley
Published: February 2013

Through lived experience, I learn how my education, life habits, changing abodes, and different career trajectories are intertwined with my identity and place. A/r/tography is a way of exploring these interconnections through reflexive practice as a visual artist, creative arts therapist, art educator, and researcher. Knowledge emerges from contemplating my artistic practice, my art education, the drawings of clients who participate in my creative art therapy sessions, and the work of students who attend my art classes, from which I contemplate early art images as shapes or figurative forms floating on the page. This paper asserts that creative art therapists are able to use the creative-artistic processes of living inquiry found in a/r/tography to make connections between identity and place.
Dewey Through A/r/tography
Authors: Siegesmund Richard
Published: February 2013

A/r/tography’s conceptual framework is overwhelming postmodern, and within the scholarship referenced, John Dewey’s Art as Experience is seldom cited. This essay argues for the relevancy of Art as Experience to a/r/tography. The structure of this essay follows the lines of argument within Dewey’s first three chapters: "The Live Creature," "Ethereal Things," and "Having an Experience." These chapters offer significant insight into the close links Dewey saw between science, aesthetics, and inquiry, and help to show how a/r/tography not only resonates with Dewey’s aesthetics, but to other significant traditions within Western thought as well.
Decolonizing the Divine Through Co-A/r/tographic Praxis in Matrixial Borderspaces
Authors: Bickel Barbara
Published: February 2013

This article is drawn from a dissertation study with 14 women spiritual leaders who were part of an interfaith planning team for an annual women’s spirituality conference in Vancouver, British Columbia, Canada. Engaging a praxis of co-a/r/tography as ritual, the women were enabled to manifest and explore their multiple-subjective relationships with the Divine. Through co-encounters within matrixial (Ettinger, 2005) and real religious/political borderspaces via art and ritual, the process of decolonizing the Divine (Fernandes, 2003) for each woman, and the group as a whole, proved possible when supported by a compassionate community.
Variability of alder-dominated forest vegetation along a latitudinal gradient in Slovakia
Authors: Slezák Michal , Hrivnák Richard , Petrášová Anna , Dítě Daniel
Published: February 2013

Syntaxonmical revision of azonal forest vegetation with dominance of Alnus glutinosa and A. incana was done along a latitudinal transect of Slovakia. A data matrix consisting of 240 phytosociological relevés was obtained in accordance with the standard Zürich-Montpellier approach. Detrended correspondence analysis was used to clarify the relationships between the vegetation composition and environmental variables, whereas one-way ANOVA was applied to quantify the differences in site requirements of particular vegetation types. The unsupervised numerical classification resulted in identification of five clusters corresponding to the traditionally described and ecologically interpretable associations within the Euro-Siberian alder carr forests of Alnion glutinosae and the European broad-leaved floodplain forests of Alnion incanae: Carici elongatae-Alnetum glutinosae Schwickerath 1933 (alder carr forests on permanently waterlogged soils), Stellario-Alnetum glutinosae Lohmeyer 1957 (riparian alder vegetation on mesic to humid sites along small brooks), Piceo-Alnetum Mráz 1959 (submontane and montane oligotrophic spruce-alder forests on waterlogged habitats), Cardamino amarae-Alnetum incanae Šomšák 1961 (grey alder vegetation in spring fed areas) and Alnetum incanae Lüdi 1921 (submontane and montane streamside grey alder forests on mesic sites). They significantly (P < 0.05) differed in the Ellenberg's indicator values for nutrients, moisture, temperature and altitude. These environmental variables were also established by DCA analysis as underlying sources of variation in alder-dominated forest composition. Special attention was given to discussion of their syntaxonomy, nomenclature, floristic structure, ecological features and distribution.
Risk Premia in the Czech Money Market
Authors: Pohl Martin
Published: February 2013

We estimate risk premia in the Czech money market and we pay special attention to the 2008-2009 crisis period. Our results imply a rising forward premium and we argue that the error correction model is the most appropriate method, but median may be used as a first guess estimator. We estimated the term premium between the policy rate and various money market interest rates. In this context, ARCH models proved to be useful in reflection of non-stationarity observed in the data. The financial crisis caused a structural break in our data sample, but the impact on the forward premium was only brief and forward premia normalized quickly. The widening of the term premium proved to be much more persistent, although it declined significantly since the peak of the crisis.
Le rire comme enjeu féministe : une lecture de l’humour dans Les mouflettes d’Atropos de Chloé Delaume et Baise-moi de Virginie Despentes
Authors: Sauzon Virginie
Published: February 2013

Virginie Despentes et Chloé Delaume, deux figures importantes de la littérature française contemporaine, ont placé l’humour – fût-il noir – au coeur de leur oeuvre. On montrera que ce rire grinçant, réel enjeu féministe, a deux fonctions principales : dénoncer avec force ironie le système de la domination masculine et court-circuiter par la parodie l’exercice conventionnel du pouvoir. Ce rire féministe, impliquant des connivences particulières, ne se réduit pas à une simple provocation ou à un amer constat. Il figure le lieu ludique et décomplexé de la résistance, pouvant encore être perçu comme trop menaçant pour une certaine réception critique.
De l’humour féminin comme d’une compétence sociale pour gérer et contester les rapports de pouvoir et les inégalités dans le couple
Authors: Henchoz Caroline
Published: February 2013

Lors d’entretiens de couples effectués dans le contexte d’une recherche qualitative sur l’organisation financière des ménages, l’humour, l’ironie et le rire ont été mobilisés par les femmes pour souligner et dénoncer les inégalités économiques entre elles et leur partenaire. Par l’humour, les femmes partagent leur expérience et démontrent leurs capacités à reconnaître le pouvoir masculin et les transgressions de la norme égalitaire. L’humour féminin est toutefois une forme de subversion douce, car les inégalités, bien qu’elles soient relevées, ne sont pas discutées explicitement. L’humour contribue-t-il pour autant à maintenir lestatu quo? Non, car, en ciblant un système plutôt qu’une personne et en créant une alliance avec le partenaire, l’humour féminin est peut-être le meilleur moyen d’introduire du changement tout en préservant la relation.
La démocratie postcoloniale, la parrêsia subalterne et le grotesque : rires de femmes
Authors: Quévreux Marie
Published: February 2013

L’auteure se penche sur un nouveau mode humoristique, apparu au cours des années 2000. Après une présentation de la société postcoloniale française et la « dispute du voile », l’auteure distingue, dans la première partie, le minoritaire du subalterne afin de suggérer l’importance d’une étude de l’humour des femmes subalternes comme revendication démocratique. Dans la deuxième partie, elle analyse deux spectacles d’humoristes femmes, Rachida Khalil et Nouara Naghouche, à l’aide de la notion antique de parrêsia, qui signifie « franc-parler ». Dans la troisième et dernière partie, elle revient sur les mutations du grotesque colonial en grotesque postcolonial, pour montrer que la parrêsia subalterne ne prétend pas dire la vérité, mais raconter les histoires « moins fausses » des subalternes et leur résistance par le rire.
Des pratiques subversives? Les humoristes françaises dans les talk-shows
Authors: Quemener Nelly
Published: February 2013

L’auteure se penche sur la vague de femmes humoristes qui, de 2003 à 2007, s’emparent de l’espace dévolu à des sketches dans les émissions de talk-show pour diversifier les répertoires de la féminité. Quoique numériquement inférieures aux hommes humoristes, elles incarnent la montée en puissance d’un humour qui transforme une féminité jusque-là objet de moquerie en sujet actif du rire. L’auteure défend que les femmes humoristes dans les talk-shows revisitent les ressorts du rire en faisant du corps un élément actif et révèlent les modes de catégorisation du genre à travers des « hyperféminités » et des « féminités masculines ».
Differences in HIV knowledge and sexual practices of learners with intellectual disabilities and non‐disabled learners in Nigeria
Authors: Aderemi Toyin J , Pillay Basil J , Esterhuizen Tonya M
Published: February 2013

Introduction

Individuals with intellectual disabilities are rarely targeted by the current human immunodeficiency virus (HIV) response, thereby reducing their access to HIV information and services. Currently, little is known about the HIV knowledge and sexual practices of young Nigerians with intellectual disabilities. Thus, this study sought to compare the HIV knowledge and sexual practices of learners with mild/moderate intellectual disabilities and non‐disabled learners (NDL) in Nigeria. Findings could help in the development of HIV interventions that are accessible to Nigerian learners with intellectual impairments.

Methods

This cross‐sectional, comparative study utilized a survey to investigate HIV knowledge and sexual practices among learners with mild/moderate intellectual disabilities and NDL in Nigeria. Learners with mild/moderate intellectual disabilities (n=300) and NDL (n=300) within the age range of 12 to 19 years drawn from schools across Oyo State, Nigeria, completed a structured questionnaire to assess their knowledge of HIV transmission and sexual practices.

Results

Significantly more learners with mild/moderate intellectual disabilities (62.2%) than NDL 48 (37.8%) reported having sexual experience (p=0.002). Of the sexually experienced female learners with mild/moderate intellectual disabilities, 28 (68.3%) reported history of rape compared with 9 (2.9%) of female NDL (p=0.053). Intellectual impairment was significantly associated with lower HIV transmission knowledge scores (p<0.001). Learners with mild/moderate intellectual disabilities were less likely than NDL (p<0.001) to have heard about HIV from most of the common sources of HIV information. In addition, when compared with non‐disabled learners, learners with mild/moderate intellectual disabilities were significantly more likely to have reported inconsistent condom use with boyfriends/girlfriends (p<0.001), with casual sexual partners (p<0.001) and non‐use of condom during last sexual activity (p<0.001).

Conclusions

Findings suggest that adolescents with intellectual impairments are at higher risk of HIV infection than their non‐disabled peers. This gap could be addressed through interventions that target Nigerians with intellectual impairments with accessible HIV information and services.
The expression of lysyl‐oxidase gene family members in myeloproliferative neoplasms
Authors: Tadmor T. , Bejar J. , Attias D. , Mischenko E. , Sabo E. , Neufeld G. , Vadasz Z.
Published: February 2013

Myeloproliferative neoplasms (MPNs) are malignant disorders originating from clonal expansion of a single neoplastic stem cell and characteristically show an increase in bone marrow reticulin fibers. Lysyl oxidases (LOXs) are copper‐dependent amine oxidases that play a critical role in the biogenesis of connective tissue by crosslinking extracellular matrix proteins, collagen and elastin. Expression of LOX gene family members is increased in disorders associated with increased fibrosis. To evaluate involvement of LOX gene family in various MPNs. In‐situ hybridization was used to detect Lysyl‐Oxidase family members in bone marrow biopsies from patients with different MPNs. We compared normal bone marrows and those from patients with polycythemia vera, essential thrombocythemia, chronic myeloid leukemia, and primary myelofibrosis (PMF). Serum levels of lysyl‐oxidase from patients with PMF and healthy controls were also examined. LOX gene family was not detected in normal bone marrows. All members of the LOX gene family were over expressed in PMF. In other MPNs a differential pattern of expression was observed. Differences in gene expression were statistically significant (P < 0.010). The medianserum LOX levels in normal controls was 28.4 ± 2.5 ng\ml and 44.6 ± 9.44 ng\ml in PMF (P = 0.02). The varying pattern of expression of LOX genes may reflect differences in the pathophysiology of bone marrow fibrosis in these MPNs. These observations could be used as the basis for future targeted therapy directed against bone marrow fibrosis. Am. J. Hematol. 88:355–358, 2013. © 2013 Wiley Periodicals, Inc.
Prognostic impact of RAS mutations in patients with myelodysplastic syndrome
Authors: Al‐Kali Aref , Quintás‐Cardama Alfonso , Luthra Raja , Bueso‐Ramos Carlos , Pierce Sherry , Kadia Tapan , Borthakur Gautam , Estrov Zeev , Jabbour Elias , Faderl Stefan , Ravandi Farhad , Cortes Jorges , Tefferi Ayalew , Kantarjian Hagop , Garcia‐Manero Guillermo
Published: February 2013

RAS is an oncogene frequently mutated in human cancer. RAS mutations have been reported in 10–15% of cases of acute myeloid leukemia (AML) but they appear to be less frequent among patients with myelodysplastic syndrome (MDS). The impact of RAS mutations in patients with MDS is unclear. We conducted a retrospective study in 1,067 patients with newly diagnosed MDS for whom RAS mutational analysis was available. Overall, 4% of patients carried mutant RAS alleles. Notably, FLT3 mutations, which were found in 2% of patients, were mutually exclusive with RAS mutations. Patients with RAS mutations had a higher white blood cell count as well as bone marrow blasts compared with patients carrying wild‐type RAS. However, no differences were observed between both groups regarding the risk of AML transformation (9% vs. 7%) and overall survival (395 days vs. 500 days, P = 0.057). In summary, RAS mutations are infrequent in patients with MDS and do not appear to negatively impact their outcome. Am. J. Hematol. 88:365–369, 2013. © 2013 Wiley Periodicals, Inc.
Two extraordinarily severe cases of Treacher Collins syndrome
Authors: Bauer Mislen , Saldarriaga Wilmar , Wolfe S. Anthony , Beckwith J. Bruce , Frias Jaime L. , Cohen Jr. M. Michael
Published: February 2013

Here, we report two extraordinarily severe cases of Teacher Collins syndrome. Initially, amniotic bands and plical fold disruption were considered, but downslanting eyes made us consider severe Treacher Collins syndrome. ATCOF1mutation in exon 24 was identified in Patient 1 (c.4355_4356ins14, resulting in p.1456Thrfs*18). Patient 2, who expired on day 4, is so similar to Patient 1 that severe Treacher Collins syndrome may be inferred in this instance. Neither theTCOF1mutation nor the well‐known variability in the expression in affected families with Treacher Collins syndrome (∼40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time. We are unaware of any recent sporadic cases (∼60% of reported cases) exactly like ours either with a single exception in the case reported by Writzl et al. [2008] with aTCOF1mutation. The case described by Otto in 1841 is spectacular. We propose several hypotheses to be considered in explaining this developmental amplification, including some promoter effect on the gene, some position effect on the gene, a polymorphism elsewhere in the gene, a point mutation elsewhere in the gene, a polymorphism in another gene, or a point mutation in another gene, such asPOLR1C(which maps to 6p21.1) orPOLR1D(which maps to13q12.2). We also review the etiology and pathogenesis of Treacher Collins syndrome, and discuss several other severe cases from the past. © 2013 Wiley Periodicals, Inc.
Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes
Authors: Bint Susan M. , Scriven Paul N. , Ogilvie Caroline Mackie
Published: February 2013

Preimplantation genetic diagnosis (PGD) has been carried out for two couples with different mosaic Robertsonian translocations. Two PGD cycles for a mosaic 13;13 homologous Robertsonian translocation carrier resulted in the birth of a healthy child in each cycle, illustrating the importance of scanning G‐banded preparations from homologous Robertsonian carriers for the presence of a normal cell line. One couple was referred for PGD because the male partner carried a mosaic 14;15 Robertsonian translocation with a normal cell line. A single PGD cycle resulted in the birth of a healthy child. Follow‐up studies and extended FISH analysis of the carrier's lymphocytes detected three cell lines, two carrying different 14;15 Robertsonian chromosomes and one normal cell line. The two 14;15 Robertsonian chromosomes had different breakpoints in the proximal short arm regions. We suggest that the presence of the D15Z1 polymorphism on the short arm of one chromosome 14 mediated the post‐zygotic formation of the two different Robertsonian chromosomes. © 2013 Wiley Periodicals, Inc.
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome
Authors: Ghanim Mustafa , Rossignol Sylvie , Delobel Bruno , Irving Melita , Miller Owen , Devisme Louise , Plennevaux Jean‐Louis , Lucidarme‐Rossi Sophie , Manouvrier Sylvie , Salah Azzi , Chivu Olimpia , Netchine Irène , Vincent‐Delorme Catherine
Published: February 2013

Silver–Russell syndrome (SRS) is characterized by pre‐ and post‐natal growth restriction that spares head growth, feeding difficulties, and variable dysmorphic facial features without major malformations. Hypomethylation of the paternal 11p15 imprinting control region 1 (ICR1) and maternal uniparental disomy of chromosome 7 are found in 50–60% and in 5–10% of SRS patients, respectively. We report on the pre‐ and post‐natal features of three unrelated SRS patients with unusual congenital heart defects (CHDs). Two patients born prematurely had total anomalous pulmonary venous return and died shortly after birth, and a third patient, now 4 years old, had cor triatriatum sinistrum, which was surgically corrected. In all three patients, the underlying molecular defect was 11p15 ICR1 hypomethylation. Based on a large cohort with molecularly proven SRS, the prevalence of CHD in SRS is estimated at 5.5%. We suggest that the occurrence of CHD in SRS with 11p15 ICR1 hypomethylation is not coincidental, but specific to this genotype. © 2013 Wiley Periodicals, Inc.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
Authors: Plaisancié Julie , Bailleul‐Forestier Isabelle , Gaston Véronique , Vaysse Fréderic , Lacombe Didier , Holder‐Espinasse Muriel , Abramowicz Marc , Coubes Christine , Plessis Ghislaine , Faivre Laurence , Demeer Bénédicte , Vincent‐Delorme Catherine , Dollfus Hélène , Sigaudy Sabine , Guillén‐Navarro Encarna , Verloes Alain , Jonveaux Philippe , Martin‐Coignard Dominique , Colin Estelle , Bieth Eric , Calvas Patrick , Chassaing Nicolas
Published: February 2013

Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (WNT10A, EDAR, or more rarely EDARADD). We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. We identified eight EDAR mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 WNT10A mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED. © 2013 Wiley Periodicals, Inc.
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria
Authors: Plotkin Scott R. , Blakeley Jaishri O. , Evans D. Gareth , Hanemann C. Oliver , Hulsebos Theo J.M. , Hunter‐Schaedle Kim , Kalpana Ganjam V. , Korf Bruce , Messiaen Ludwine , Papi Laura , Ratner Nancy , Sherman Larry S. , Smith Miriam J. , Stemmer‐Rachamimov Anat O. , Vitte Jeremie , Giovannini Marco
Published: February 2013

Schwannomatosis is the third major form of neurofibromatosis and is characterized by the development of multiple schwannomas in the absence of bilateral vestibular schwannomas. The 2011 Schwannomatosis Update was organized by the Children's Tumor Foundation (www.ctf.org) and held in Los Angeles, CA, from June 5–8, 2011. This article summarizes the highlights presented at the Conference and represents the “state‐of‐the‐field” in 2011. Genetic studies indicate that constitutional mutations in the SMARCB1 tumor suppressor gene occur in 40–50% of familial cases and in 8–10% of sporadic cases of schwannomatosis. Tumorigenesis is thought to occur through a four‐hit, three‐step model, beginning with a germline mutation in SMARCB1 (hit 1), followed by loss of a portion of chromosome 22 that contains the second SMARCB1 allele and one NF2 allele (hits 2 and 3), followed by mutation of the remaining wild‐type NF2 allele (hit 4). Insights from research on HIV and pediatric rhabdoid tumors have shed light on potential molecular pathways that are dysregulated in schwannomatosis‐related schwannomas. Mouse models of schwannomatosis have been developed and promise to further expand our understanding of tumorigenesis and the tumor microenvironment. Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations. The authors propose updated diagnostic criteria to incorporate new clinical and genetic findings since 2005. In the next 5 years, the authors expect that advances in basic research in the pathogenesis of schwannomatosis will lead toward clinical investigations of potential drug therapies. © 2013 Wiley Periodicals, Inc.
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
Authors: D'Angelo Carla Sustek , Kohl Ilana , Varela Monica Castro , de Castro Cláudia Irene Emílio , Kim Chong Ae , Bertola Débora Romeo , Lourenço Charles Marques , Perez Ana Beatriz Alvarez , Koiffmann Celia Priszkulnik
Published: February 2013

Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader–Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array‐based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions. © 2013 Wiley Periodicals, Inc.
Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child
Authors: Waxler Jessica L. , Cherniske Elizabeth M. , Dieter Kristen , Herd Pamela , Pober Barbara R.
Published: February 2013

Healthcare providers often share difficult or life‐altering news with their patients yet this challenging and delicate process is frequently met with dissatisfaction by those receiving this news. Articles and guidelines exist to aid providers in sharing diagnoses such as Down syndrome, but relatively few have focused on rare genetic conditions often diagnosed years after birth. For this reason, we sought to learn about the experience of receiving a diagnosis from parents of children with Williams syndrome. We asked members of the Williams Syndrome Association to complete an anonymous online survey about recollections related to the diagnostic process. Responses, both close‐ended and open‐ended, were received from 600 families across the United States. Analysis revealed a high proportion of families (59.91%) with at least some negative recollections about the experience (and nearly half of those with negative recollections denied recalling anything positive). Factors influencing a more positive overall perception of the experience included receiving written information about Williams syndrome and seeing a genetic counselor. Analysis of open‐ended responses identified additional positive and negative themes; for example, nearly one quarter of respondents expressed a desire to be given hope when receiving the diagnosis. Based on these analyses, we offer several specific recommendations for improving the diagnostic process in the future. © 2013 Wiley Periodicals, Inc.
Genetics professionals' perspectives on reporting incidental findings from clinical genome‐wide sequencing
Authors: Lohn Zoe , Adam Shelin , Birch Patricia , Townsend Anne , Friedman Jan
Published: February 2013

Whole exome or whole genome analysis using massively parallel sequencing technologies will undoubtedly solve diagnostic dilemmas; however, incidental findings (IF) that may have medical and social implications will also be discovered. While there is consensus in the literature that analytically valid and medically actionable IF should be returned to patients if requested, there is debate regarding the return of other IF. There are currently no guidelines established for managing IF in the clinical context. We therefore distributed an online questionnaire to 496 geneticists and genetic counselors in Canada to explore this unresolved issue, and 210 professionals participated (response rate = 42%). The proportion of respondents who indicated that they would return IF to patients depended on the nature of the finding, ranging from 95% for information pertaining to a serious and treatable condition to 12% for information with only social implications (e.g., non‐paternity). There was a lack of consensus around the disclosure of certain IF such as genetic carrier status, especially for pediatric patients. The most important considerations identified as impacting IF disclosure included condition‐specific factors such as treatment availability, test accuracy, and evidence indicating pathogenicity. This is the first study to document the views of geneticists and genetic counselors in Canada towards the disclosure of IF, and represents a step towards evidence‐based guidelines for clinical genome‐wide sequencing investigations. © 2013 Wiley Periodicals, Inc.
Steroid‐independent upregulation of matrix metalloproteinase 9 in chronic rhinosinusitis patients with radiographic evidence of osteitis
Authors: Detwiller Kara Y. , Smith Timothy L. , Mace Jess C. , Trune Dennis R. , Sautter Nathan B.
Published: February 2013

Background

Chronic sinonasal inflammation is associated with tissue remodeling, such as osteitis, which may be a marker of refractory disease; however, the pathophysiology of osteitis in chronic rhinosinusitis (CRS) is insufficiently understood.

Methods

Ethmoid mucosa and bone samples were obtained from 35 medically refractory CRS patients and 9 control subjects. Quantitative real‐time polymerase chain reaction (RT‐PCR) was performed separately on bone and mucosa for matrix metalloproteinase 2 and 9 (MMP2, MMP9) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1). Osteitis was classified as mild, moderate, or severe by measuring bone thickness of the maxillary, sphenoid, and ethmoid sinuses on multiplanar computed tomography (CT). Patients were classified based on severity of osteitis and compared to controls.

Results

Nine patients demonstrated radiographic evidence of osteitis (mild = 3, moderate/severe = 6). Bone PCR revealed biologically significant upregulation of MMP9 in all patients with CRS, but the magnitude of the upregulation decreased with severity of osteitis. Mucosa PCR showed upregulation of MMP9 in moderate/severe osteitis only. No significant changes were seen in MMP2 or TIMP1 regulation.

Conclusion

This is the first study to evaluate the role of MMP in the bone and mucosa of patients with sinonasal osteitis. The pattern of expression suggests there may be a time‐ and tissue‐dependent role for MMP9 in the pathophysiology of osteitis. In addition, MMP9 overexpression is seen despite preoperative oral and intranasal steroid use, suggesting that if MMP9 is an important factor in the development of osteitis then steroids may not be the best treatment in prevention of osteitis.
Mikroplastik – ein unsichtbarer Störenfried
Authors: Holm Patricia , Schulz Gerhard , Athanasopulu Kiriaki
Published: February 2013

Plastik wird heute in großen Mengen produziert und für viele Zwecke eingesetzt. Am Ende der Verwendung gelangt ein großer Teil davon in die Umwelt, oftmals auch ins Meer. Dort wird es in kleinste Bruchstücke fragmentiert, so genanntes Mikroplastik, und kann von Strudlern, Filtrierern und Benthosfressern als vermeintliche Nahrung aufgenommen werden. Wir zeigen, dass Mikroplastik‐Partikel von Pantoffeltierchen, Wasserflohkrebsen und Miesmuscheln aufgenommen werden. In den Muscheln konnten wir zudem nachweisen, dass die Plastikpartikel bis in die Zellen der Mitteldarmdrüsen gelangen und dort pathologische Reaktionen nach sich ziehen. Mikroplastik ist nicht nur problematisch, da die Tiere keinen Nährwert aus dem Plastik ziehen und mit vollem Magen verhungern können, sondern auch weil scharfe Kanten der Plastikteile die Darmschleimhäute der Tiere verletzen können. Zudem lagern sich persistente Schadstoffe, die nachteilige Effekte, z.B. auf die Fortpflanzung haben können, leicht an Plastik an. Im Artikel werden Lösungsmöglichkeiten skizziert und Organisationen genannt, die sich des Problems annehmen.
Vom Phänotyp zum Genotyp
Authors: Hiller Michael
Published: February 2013

Trotz der Sequenzierung der Genome vieler Spezies wissen wir nur sehr wenig darüber, welche Änderungen in der DNA für die vielen phänotypischen Unterschiede zwischen Spezies verantwortlich sind. Der Hauptgrund ist, dass es sowohl viele genomische als auch phänotypische Unterschiede gibt. Eine neue Methode der vergleichenden Genomik versucht diese Frage für Phänotypen zu beantworten, welche in unabhängigen Abstammungslinien verlorengegangen sind. Dazu sucht man nach genomischen Regionen, die in den Spezies, wo der Phänotyp fehlt, eine größere Anzahl an Mutationen haben. Die Sequenzierung von tausenden neuen Genomen in naher Zukunft wird es möglich machen, mit Hilfe der vergleichenden Genomik systematisch nach den DNA‐Unterschieden zu suchen, welche mit phänotypischen Unterschieden assoziiert sind.
Therapie mit Stammzellen
Authors: Müller Werner
Published: February 2013

In diesem Artikel wird das System zur laufenden Erneuerung der Blut‐ und Immunzellen vorgestellt und auf Erfolge der Stammzellentherapie bei der Heilung von Leukämien und malignen Lymphomen hingewiesen. Auf unterschiedlichen HLA‐Typen beruhende Gewebeunverträglichkeiten zwischen Empfängern und Spendern setzen solchen Therapien enge Grenzen. Ob durch bloße Infusion von Stammzellen auch andere Krankheiten, beispielsweise Parkinson, geheilt werden könnten, ist derzeit fraglich.
Heterosis: Maishybride exprimieren mehr Gene als ihre Eltern
Authors: Hochholdinger Frank , Paschold Anja , Marcon Caroline
Published: February 2013

Die molekularen Grundlagen der Überlegenheit von Hybriden im Vergleich zu ihren reinerbigen Eltern, welche als Heterosis bezeichnet wird, sind bislang nur unzureichend verstanden. In einer neuen Studie konnte gezeigt werden, dass Maishybride einige hundert Gene mehr exprimieren als ihre Eltern. Dies könnte ein Ansatz zur gezielten Vorauswahl geeigneter Maislinien in der Züchtung bieten und so auf lange Sicht Zeit und Kosten sparen.
Traumata im Kindesalter führen zu epigenetischen Veränderungen bei Risikogruppen
Authors: Klengel Torsten
Published: February 2013

Das Risiko, an einer psychischen Erkrankung zu leiden, ist das Resultat des Zusammenspiels zwischen einer genetischen Veranlagung und vielfältigen Umweltfaktoren. Was so einleuchtend klingt und durch epidemiologische Studien unterstützt wird, konnte nun im Fall von traumatisierten Kindern durch einen molekularen Mechanismus erklärt werden.
Biologielernen außerhalb der Schule
Authors: Scheersoi Annette
Published: February 2013

Das Angebot ist groß – die Biologie ist zum Greifen nah: Zoos, Botanische Gärten und Museen bieten Einblicke in die Tier‐ und Pflanzenwelt und ermöglichen vielen Menschen den unmittelbaren Kontakt mit biologischen Phänomenen. Science Center laden dazu ein, mit spektakulären Experimenten die Naturwissenschaften zu entdecken. Aber tragen diese Angebote wirklich zum gewünschten “Public understanding of Science” bei? Sind sie in der Lage, das Interesse der Besucher für Biologie zu wecken und grundlegende Inhalte zu vermitteln?
Netzwerk zur Stärkung einer biobasierten Wirtschaft
Authors: Saningong Akuma
Published: February 2013

Die effiziente und nachhaltige Nutzung von Biomasse ist als Instrument zur Bewältigung der von der Bundesregierung angestrebten Energiewende kaum wegzudenken. Das Schlagwort der Stunde, die “Bioökonomie”, sieht die Verknüpfung von Ökonomie und Ökologie vor. Hierbei werden keine fossilen Ressourcen verbraucht, sondern Biomasse aus Pflanzen, Tieren und Mikroorganismen zur Herstellung von Nahrung, Materialien und Energie genutzt. Das Netzwerk “biomastec” will mit diesem Thema befasste Unternehmen und die Forschung besser miteinander vernetzen.
Die Dot‐Blot‐Technik
Authors: Hauk Andrea
Published: February 2013

Die Übertragung von Nukleinsäuren oder Proteinen auf eine Trägermembran wird im Labor durch die Anfertigung eines “Blots” durchgeführt. Die Dotblot‐Technik kann hierbei als eine Art “Schnelltest” eingesetzt werden. DNA, RNA oder auch Proteinproben werden ohne vorherige Gelelektrophorese auf eine Membran übertragen und anschließend detektiert. Die zu untersuchenden Proben werden punktförmig (engl. dot = Punkt / Fleck) auf einen Träger aufgetropft. Analog zur Southern‐, Northern‐ oder Western‐Blot‐Technik wird geprüft, ob die gesuchten DNA‐ oder RNA‐Sequenzen oder Proteine in der Probe vorhanden sind.
Transfer Associate Degrees in Historical Context
Authors: Cohen Arthur M.
Published: February 2013

The implementation of transfer associate degrees moves America's system of higher education away from long‐ingrained, isolated practices and toward greater trust and collaboration among institutions.
Widening and Wandering the Short Road to Success: The Louisiana Transfer Degree Guarantee
Authors: Cope Kevin L.
Published: February 2013

This chapter analyzes the complex and often surprising process by which Louisiana, a small state with four higher education systems, deployed a transfer degree program in a scant two years. The author reviews the full range of challenges, from social to curricular to promotional, that were overcome and makes recommendations concerning the development of transfer degree programs under both normal and extreme or unusual circumstances.
Faculty Reflections on Implementing Associate Degrees for Transfer in California
Authors: Patton Jane , Pilati Michelle
Published: February 2013

This chapter describes how California Community College and California State University faculty developed a system for implementing associate degrees for transfer that has the potential to simplify transfer and decrease unit accumulation. This intersegmental, faculty‐led system provides a mechanism for maintaining local control of curriculum, while identifying curricular commonalities that can ultimately facilitate student movement within and between higher education segments in California.
Putting the Pieces Together and Asking the Hard Questions: Transfer Associate Degrees in Perspective
Authors: Wagoner Richard L. , Kisker Carrie B.
Published: February 2013

This chapter synthesizes information from the volume; suggests a state‐level model organizational structure for implementing transfer associate degrees; describes the interests and values of the major constituencies in systemic transfer reforms; and offers a view to the future, including potential areas of concern.
Dynamics of oscillators coupled by a medium with adaptive impact
Authors: Daneshvar Roozbeh
Published: February 2013

In this article, we study the dynamics of coupled oscillators. We use mechanical metronomes that are placed over a rigid base. The base moves by a motor in a one‐dimensional direction and the movements of the base follow some functions of the phases of the metronomes (in other words, it is controlled to move according to a provided function). Because of the motor and the feedback, the phases of the metronomes affect the movements of the base, whereas on the other hand, when the base moves, it affects the phases of the metronomes in return. For a simple function for the base movement (such asy= γx[rθ1+ (1 −r)θ2] in whichyis the velocity of the base, γxis a multiplier,ris a proportion, and θ1and θ2are phases of the metronomes), we show the effects on the dynamics of the oscillators. Then, we study how this function changes in time when its parameters adapt by a feedback. By numerical simulations and experimental tests, we show that the dynamic of the set of oscillators and the base tends to evolve towards a certain region. This region is close to a transition in dynamics of the oscillators, where more frequencies start to appear in the frequency spectra of the phases of the metronomes. We interpret this as an adaptation towards the edge of chaos.
Organoruthenium‐Containing Heteropoly‐23‐Tungstate Family [{Ru(L)}2(α‐XW11O39)2WO2]m– (L = benzene, p‐cymene; X = GeIV, SiIV, m = 10; BIII, m = 12)
Authors: Nsouli Nadeen H. , Chubarova Elena V. , Al‐Oweini Rami , Bassil Bassem S. , Sadakane Masahiro , Kortz Ulrich
Published: February 2013

A family of {Ru(arene)}2+‐containing heteropolytungstates of general formula [{Ru(L)}2(α‐XW11O39)2WO2]m– (L = benzene, p‐cymene; X = GeIV, SiIV, m = 10; X = BIII, m = 12) has been prepared in aqueous acidic medium (pH ≈ 4). The 1:1 interaction of [Ru(C6H6)Cl2]2 or [Ru(p‐cymene)Cl2]2 with [β2‐GeW11O39]8– led to the formation of [{Ru(benzene)}2(GeW11O39)2WO2]10– (1) and [{Ru(p‐cymene)}2(GeW11O39)2WO2]10– (2), respectively. Replacing [β2‐GeW11O39]8– by [α‐SiW11O39]8– resulted in [{Ru(benzene)}2(SiW11O39)2WO2]10– (3) and [{Ru(p‐cymene)}2(SiW11O39)2WO2][SiW12O40]0.512– (4), respectively. The reaction of [α‐HBW11O39]8– with the respective {Ru(arene)}2+‐containing precursors resulted in polyanions [{Ru(benzene)}2(HBW11O39)2WO2]10– (5) and [{Ru(p‐cymene)}2(HBW11O39)2WO2]10– (6), respectively. Single‐crystal XRD analysis of the hydrated salts of 1–6 revealed that these species comprise two Keggin fragments, [{Ru(L)}α‐XW11O39]6– (L = benzene, p‐cymene; X = GeIV, SiIV) for polyanions 1–4 and [{Ru(L)}α‐HBW11O39]6– (L = benzene, p‐cymene) for 5 and 6, connected via a cis‐dioxo {WO2}2+ unit. In addition, the heteropolytungstates were characterized by thermogravimetric analysis, IR spectroscopy, elemental analysis, and solution electrochemical studies.
One “Click” to Access Push–Triazole–Pull Fluorophores Incorporating a Pyrimidine Moiety: Structure–Photophysical Properties Relationships
Authors: Cornec Anne‐Sophie , Baudequin Christine , Fiol‐Petit Catherine , Plé Nelly , Dupas Georges , Ramondenc Yvan
Published: February 2013

Using copper‐catalysed Huisgen 1,3‐dipolar cycloaddition, we describe the synthesis of new A‐π‐D compounds containing a pyrimidine moiety as π‐acceptor (A) and various para‐substituted benzene rings as donors (D). Structure–photophysical properties relationships revealed the triazole ring to be a better π‐conjugated linker than the triple bond.
One pot, single step, room temperature dielectrophoretic deposition of gold nanoparticles clusters on polyethylene terephthalate substrate
Authors: Koiry Shankar P. , Celestin Michael E. , Ratnadurai Rudraskandan , Veerender Putta , Krishnan Subramanian , Aswal Dinesh K. , Bhansali Shekhar
Published: February 2013

The major challenge of plastic electronics is the deposition of gold nanoparticles (AuNPs) on flexible substrates at room temperature. Here, we show fast, single step, room temperature deposition of AuNPs on polyethylene terephthalate (PET) and biaxially oriented PET (BoPET) substrate by employing dielectrophoresis. The deposition has been carried out using two‐electrode system, with BoPET (or PET) and metallic (Pt or stain steel) mesh, under an AC signal of 20 kHz and 20 V peak‐to‐peak (Vpp) (signal for PET is 6 Vpp and 6 kHz). In this method, we show how to deposit AuNPs on PET‐like insulator by exploiting its polarization capability under an AC signal. The polarization of PET has been confirmed by change in the Raman spectra of the PET film under in situ AC signals. Furthermore, we show that using this dielectrophoretic deposition method, the PET films can be patterned by AuNPs at room temperature without any pre‐ and posttreatment.
Statistical fluctuation in zeta potential distribution of nanoliposomes measured by on‐chip microcapillary electrophoresis
Authors: Kato Kei , Koido Masaru , Kobayashi Masashi , Akagi Takanori , Ichiki Takanori
Published: February 2013

The zeta potential of nanoliposomes with a diameter below 100 nm has been studied by the combined use of on‐chip microcapillary electrophoresis (μCE) and sensitive fluorescence imaging. Tracking the electrophoretic migration of individual nanoliposomes has enabled the accurate evaluation of the zeta potential distribution of nanoliposomes and the first observation of its abnormal broadening due to a statistical fluctuation phenomenon specific to the “nanoscale world.” The materials used for liposome preparation were phosphocholine as the neutral lipid, phosphatidylserine as the anionic lipid, and cholesterol. The size of the liposomes encapsulating calcein, a fluorescent dye used for imaging convenience, was tailored by extrusion through polycarbonate membrane filters of different pore sizes ranging from 50 to 1000 nm. The on‐chip μCE system comprised a μCE chip, a laser source, an inverted microscope, and an electron‐multiplying charge‐coupled device camera. The electrophoresis experiment using this system revealed that the relative standard deviation of the zeta potential distribution of nanoliposomes is inversely proportional to their diameter and apparently increases below 100 nm. This abnormal broadening of zeta potential distribution of nanoliposomes is explained by prominent discreteness effect of the number of anionic lipid molecules in nanoliposomes.