Novel associations in disorders of sex development: findings from the I-DSD registry

Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report the range of associated conditions identified in the international DSD (I-DSD) Registry.<p></p> Design, Setting, and Patients: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.<p></p> Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.<p></p> Conclusions: Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.<p></p&gt

Integrated Expression Profiling and ChIP-seq Analyses of the Growth Inhibition Response Program of the Androgen Receptor

Background: The androgen receptor (AR) plays important roles in the development of male phenotype and in different human diseases including prostate cancers. The AR can act either as a promoter or a tumor suppressor depending on cell types. The AR proliferative response program has been well studied, but its prohibitive response program has not yet been thoroughly studied. Methodology/Principal Findings: Previous studies found that PC3 cells expressing the wild-type AR inhibit growth and suppress invasion. We applied expression profiling to identify the response program of PC3 cells expressing the AR (PC3-AR) under different growth conditions (i.e. with or without androgens and at different concentration of androgens) and then applied the newly developed ChIP-seq technology to identify the AR binding regions in the PC3 cancer genome. A surprising finding was that the comparison of MOCK-transfected PC3 cells with AR-transfected cells identified 3,452 differentially expressed genes (two fold cutoff) even without the addition of androgens (i.e. in ethanol control), suggesting that a ligand independent activation or extremely low-level androgen activation of the AR. ChIP-Seq analysis revealed 6,629 AR binding regions in the cancer genome of PC3 cells with an FDR (false discovery rate) cut off of 0.05. About 22.4 % (638 o

Das Abwasserproblem im Widerstreit der Interessen. Akteure, Konflikte und Lösungsmuster in der Phase der Hochindustrialisierung

Büschenfeld J. Das Abwasserproblem im Widerstreit der Interessen. Akteure, Konflikte und Lösungsmuster in der Phase der Hochindustrialisierung. In: Bebermeier W, Hennig AS, Mutz M, eds. Vom Wasser. Umweltgeschichtliche Perspektiven auf Konflikte, Risiken und Nutzungsformen. Schriften der Deutschen Wasserhistorischen Gesellschaft (DWhG) e.V.: Sonderband, 4. Norderstedt: Books on Demand GmbH; 2008: 17-47

The Irish Transport and General Workers' Union and the labour press in Ireland, 1909-1920

Officially launched by iconic labour leader James Larkin in January 1909, the Irish Transport and General Workers’ Union (ITGWU) quickly became the largest trade union in Ireland and a key institution in the country’s modern history. By 1920 membership stood at over 100,000, a peak figure until the union’s recovery in the late 1940s after several decades of decline. A notable feature of the ITGWU’s spectacular level of growth during the union’s formative years was its issuing of a series of weekly newspapers, each of which were forcefully suppressed during the First World War (1914-18) and Irish War of Independence (1919-21). What was the reason behind this succession of suppression? How did Larkin, James Connolly and Cathal O’Shannon perform as ITGWU editors throughout the period? Who were the key ITGWU press contributors? In addition to putting the union’s newspapers into context by discussing other contemporary Irish labour titles, as well as examining the first uncovered issues of Larkin’s 1917 American edition of his landmark Irish Worker newspaper, this thesis addresses these questions. Mostly utilising a close reading of the relevant ITGWU organs in conjunction with material taken from a range of declassified British intelligence files, this thesis examines the history of the union’s press up until 1920. The ITGWU’s papers are central to the story, not used as source material to chronicle the union’s turbulent early years. This thesis proves that British authorities were concerned about the potential for inciting violence in the ITGWU’s press from as early as August 1911, but it was not until the outbreak of the First World War three years later and resultant passing of the Defence of the Realm Act that the union began encountering what would prove to be six years of suppression due to its advocating in print of advanced Irish nationalism.2021-10-0

Lateral attitude change

Glaser T, Dickel N, Liersch B, Rees J, Süssenbach P, Bohner G. Lateral attitude change. Personality and Social Psychology Review. 2015;19(3):257-276.The authors propose a framework distinguishing two types of lateral attitude change (LAC): (a) generalization effects, where attitude change toward a focal object transfers to related objects, and (b) displacement effects, where only related attitudes change but the focal attitude does not change. They bring together examples of LAC from various domains of research, outline the conditions and underlying processes of each type of LAC, and develop a theoretical framework that enables researchers to study LAC more systematically in the future. Compared with established theories of attitude change, the LAC framework focuses on lateral instead of focal attitude change and encompasses both generalization and displacement. Novel predictions and designs for studying LAC are presented