PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature

BACKGROUND: B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by recurrent genetic alterations including chromosomal translocations. The transcription factor PAX5, which is pivotal for B-cell commitment and maintenance, is affected by rearrangements, which lead to the expression of in-frame fusion genes in about 2.5% of the cases. RESULTS: Using conventional cytogenetics, fluorescence in situ hybridization (FISH), and molecular methods, an additional case with a der(9)t(7;9)(q11.23;p13) resulting in the expression of a PAX5-ELN fusion gene was identified. Furthermore, a general review of leukemia harboring a t(7;9)(q11.2;p13) or der(9)t(7;9)(q11.2;p13), which occurs more often in children than in adults and shows a remarkably high male preponderance, is given. These cytogenetically highly similar translocations lead to the expression of one of three different in frame PAX5-fusions, namely with AUTS2 (7q11.22), ELN (7q11.23), or POM121 (7q11.23), which constitute the only currently known cluster of PAX5 partner genes. CONCLUSION: Our report underlines the recurrent involvement of PAX5 in different fusion genes resulting either from t(7;9)(q11.2;p13) or der(9)t(7;9)(q11.2;p13), which cannot be distinguished cytogenetically and whose discrimination requires molecular analysis

Boron-incorporating silicon nanocrystals embedded in SiO2: absende of free carriers vs. B-induced defects

Boron (B) doping of silicon nanocrystals requires the incorporation of a B-atom on a lattice site of the quantum dot and its ionization at room temperature. In case of successful B-doping the majority carriers (holes) should quench the photoluminescence of Si nanocrystals via non-radiative Auger recombination. In addition, the holes should allow for a non-transient electrical current. However, on the bottom end of the nanoscale, both substitutional incorporation and ionization are subject to significant increase in their respective energies due to confinement and size effects. Nevertheless, successful B-doping of Si nanocrystals was reported for certain structural conditions. Here, we investigate B-doping for small, well-dispersed Si nanocrystals with low and moderate B-concentrations. While small amounts of B-atoms are incorporated into these nanocrystals, they hardly affect their optical or electrical properties. If the B-concentration exceeds ~1 at%, the luminescence quantum yield is significantly quenched, whereas electrical measurements do not reveal free carriers. This observation suggests a photoluminescence quenching mechanism based on B-induced defect states. By means of density functional theory calculations, we prove that B creates multiple states in the bandgap of Si and SiO2. We conclude that non-percolated ultra-small Si nanocrystals cannot be efficiently B-doped

Frequency and gender differences in the use of professional home care in late life: Findings from three German old-age cohorts

Aim: The aim of this study was to investigate the frequency of and the gender differences in the use of professional home care in Germany. Methods: We used harmonized data from three large cohort studies from Germany (“Healthy Aging: Gender-specific trajectories into the latest life”; AgeDifferent.de Platform). Data were available for 5,393 older individuals (75 years and older). Mean age was 80.2 years (SD: 4.1 years), 66.6% were female. Professional homecare outcome variables were use of outpatient nursing care, paid household assistance, and meals on wheels’ services. Logistic regression models were used, adjusting for important sociodemographic variables. Results: Altogether 5.2% of older individuals used outpatient nursing care (6.2% women and 3.2% men; p < 0.001), 24.2% used paid household assistance (26.1% women and 20.5% men; p < 0.001) and 4.4% used meals on wheels’ services (4.5% women and 4.0% men; p = 0.49). Regression analysis revealed that women had higher odds of using paid household assistance than men (OR = 1.48, 95% CI: [1.24–1.76]; p < 0.001), whereas they had lower odds of using meals on wheels’ services (OR = 0.64, 95% CI: [0.42–0.97]; p < 0.05). No statistically significant differences in using outpatient nursing care between women and men were found (OR = 1.26, 95% CI: [0.87–1.81]; p = 0.225). Further, the use of home care was mainly associated with health-related variables (e.g., stroke, Parkinson’s disease) and walking impairments. Conclusions: Our study showed that gender differences exist in using paid household assistance and in culinary dependency. For example, meals on wheels’ services are of great importance (e.g., for individuals living alone or for individuals with low social support). Gender differences were not identified regarding outpatient nursing care. Use of professional home care servicesmay contribute to maintaining autonomy and independence in old age

Strategien entwickeln, Potenziale nutzen: Fachkräftebedarf; Angebot an Arbeitskräften wird knapper

"Das IAB nimmt nach einer allgemeinen Einschätzung des Fachkräftebedarfs und einer Darstellung der Erwartungen für die Zukunft Stellung zu den folgenden Punkten der Anträge der Fraktionen Die Linke und Bündnis 90/Die Grünen: Ausbau von Ganztagsschulen, Konzept DualPlus, Grüner Pakt für Hochschulen, Bildungsberatung, Finanzierung der Berufsberatung durch Umlagesystem, Kürzungen bei der Förderung der beruflichen Weiterbildung, Weiterbildung Geringqualifizierter und beschäftigter älterer Arbeitnehmer in Unternehmen (WeGebAU)-Programm, Weiterbildung in Klein- und Großbetrieben, stärkere Erwerbsbeteiligung von Frauen, Erwerbsbeteiligung älterer Arbeitnehmer, Erwerbsbeteiligung von Menschen mit Behinderung, Anerkennung ausländischer Qualifikationen, Fachkräfteeinwanderung, Punktesystem, Weiterentwicklung des bisherigen Rechtssystems, Blue Card-Richtlinie, Anwerbung ausländischer Studenten, flächendeckender gesetzlicher Mindestlohn, Zurückdrängen prekärer Beschäftigungsformen, Anhebung der Hartz-IV-Regelsätze auf 500 Euro, Senkung des Renteneintrittsalters und kürzere Wochenarbeitszeiten." (Autorenreferat)"Preceded by a general assessment of qualified labour demand and a presentation of respective expectations for the future, the IAB comments on the following issues in the Left (Die Linke) and Green (Bündnis 90/DieGrünen) parliamentary parties’ petitions: expansion of fulltime schools, the concept "DualPlus", the Green Pact for institutions of higher education, educational counselling, funding of vocational edu-cation and training by a pay-as-you-go scheme, cuts in the promotion of continued vocational education, continued education of low-qualified workers and older employees in private companies (WeGebAU programme), continued education in small- and large-sized establishments, increased employment participation of women, employment participation of elderly employees, employment participation of handicapped people, recognition of foreign-country qualifications, immigration of skilled labour, labour immigration credit system, further development of the current legal system, the Blue Card guideline, attracting international university students, general minimum wage, confining precarious forms of employment, raising Hartz IV unemployment benefits to 500 Euros, lowering the retirement age, and reduced weekly working hours." (author's abstract

Mittelalter im Labor

Mit diesem Band präsentiert das Schwerpunktprogramm 1173 der Deutschen Forschungsgemeinschaft „Integration und Desintegration der Kulturen im europäischen Mittelalter“ erste Ergebnisse seiner Arbeit. Von Anfang an war ihm die Aufgabe gestellt, das mittelalterliche Europa in transkultureller Perspektive und auf Wegen einer transdisziplinären Wissenschaft zu erforschen und zu begreifen. Immer ging es darum, die disziplinär verfassten Einzelwissenschaften durch transdisziplinäre Arbeit zu ergänzen. Das wissenschaftliche Anliegen des Programms ist es, das europäische Mittelalter von seinen geografischen Rändern und seinen kulturellen Differenzen her zu erforschen und zu beschreiben. Der holistischen Frage nach der Einheit Europas wird die innere Vielfalt als gegenständlicher Ausgangspunkt entgegengesetzt. Europa wird nicht als abgeschlossenes, kohärentes Gebilde verstanden, sondern als ein Kontinent, dessen permanente Austausch- und Wechselbeziehungen zwischen den verschiedenen Regionen und Kulturen überhaupt erst zur Ausbildung seiner charakteristischen Merkmale geführt haben

Integration und Desintegration der Kulturen im europäischen Mittelalter

Das mittelalterliche Europa war keine christliche Einheitskultur, sondern geprägt von vielfältigen Prozessen des Kontakts und der Abgrenzung zwischen Kulturen, bei denen die drei monotheistischen Religionen Christentum, Judentum und Islam eine herausragende Rolle spielten. Seit 2005 erforscht das DFG-Schwerpunktprogramm "Integration und Desintegration der Kulturen im europäischen Mittelalter" die Geschichte Europas als Geschichte kultureller Differenzen. Der Band dokumentiert die Dynamiken und Erträge eines wissenschaftsorganisatorischen Experiments: Gegliedert in fächerübergreifende Arbeitsgruppen, erforschten 24 Einzelprojekte aus 14 Disziplinen Integrations- und Desintegrationsprozesse von Skandinavien bis Ägypten, von der Iberischen Halbinsel bis zu den Steppen Zentralasiens in komparativem Zugriff; sie präsentieren ihre Ergebnisse nun in Beiträgen, die von mehreren Autorinnen und Autoren gemeinsam verfasst worden sind. Dabei werden Begriffe wie "Kultur" problematisiert und schon eingeführte Konzepte wie "Integration/Desintegration", "Inklusion/Exklusion", "Hybridisierung" und "Transfer" als Instrumente transkultureller Mediävistik auf den Prüfstand gestellt. Das Ende der Laufzeit des Schwerpunktprogramms gibt zugleich Anlass, methodisch-theoretische Einsichten der gemeinsamen Forschung wie auch praktische Erfahrungen bei der transdisziplinären Zusammenarbeit zu bilanzieren

Genome-Wide Association Study Identifies Single Nucleotide Polymorphism in DYRK1A Associated with Replication of HIV-1 in Monocyte-Derived Macrophages

Background: HIV-1 infected macrophages play an important role in rendering resting T cells permissive for infection, in spreading HIV-1 to T cells, and in the pathogenesis of AIDS dementia. During highly active anti-retroviral treatment (HAART), macrophages keep producing virus because tissue penetration of antiretrovirals is suboptimal and the efficacy of some is reduced. Thus, to cure HIV-1 infection with antiretrovirals we will also need to efficiently inhibit viral replication in macrophages. The majority of the current drugs block the action of viral enzymes, whereas there is an abundance of yet unidentified host factors that could be targeted. We here present results from a genome-wide association study identifying novel genetic polymorphisms that affect in vitro HIV-1 replication in macrophages. Methodology/Principal Findings: Monocyte-derived macrophages from 393 blood donors were infected with HIV-1 and viral replication was determined using Gag p24 antigen levels. Genomic DNA from individuals with macrophages that had relatively low (n = 96) or high (n = 96) p24 production was used for SNP genotyping with the Illumina 610 Quad beadchip. A total of 494,656 SNPs that passed quality control were tested for association with HIV-1 replication in macrophages, using linear regression. We found a strong association between in vitro HIV-1 replication in monocyte-derived macrophages and SNP rs12483205 in DYRK1A (p = 2.16×10-5). While the association was not genome-wide significant (p<1×10-7), we could replicate this association using monocyte-derived macrophages from an independent group of 31 individuals (p = 0.0034). Combined analysis of the initial and replication cohort increased the strength of the association (p = 4.84×10-6). In addition, we found this SNP to be associated with HIV-1 disease progression in vivo in two independent cohort studies (p = 0.035 and p = 0.0048). Conclusions/Significance: These findings suggest that the kinase DYRK1A is involved in the replication of HIV-1, in vitro in macrophages as well as in vivo. © 2011 Bol et al