Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption

Disaccharide intolerance I or congenital sucrase-isomaltase deficiency (CSID) is a disorder leading to maldigestion of disaccharides, which is autosomal recessively inherited. Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein. None of our patients had known mutations for CSID. Our analyses revealed 43 SI variants in total, 15 within exons and one at a splice site. Eight of the exonic mutations lead to amino acid exchanges, causing hypomorph or null alleles. One new variation affects a splice site, which is also predicted to result in a null allele. All potential pathological alterations were present on one allele only. In six out of the 11 patients the phenotype of CSID could be explained by compound heterozygosity.

ASSESSING THE UNRELIABILITY OF THE MEDICAL LITERATURE: A RESPONSE TO "WHY MOST PUBLISHED RESEARCH FINDINGS ARE FALSE"

A recent article in this journal (Ioannidis JP (2005) Why most published research findings are false. PLoS Med 2: e124) argued that more than half of published research findings in the medical literature are false. In this commentary, we examine the structure of that argument, and show that it has three basic components: 1)An assumption that the prior probability of most hypotheses explored in medical research is below 50%. 2)Dichotomization of P-values at the 0.05 level and introduction of a “bias” factor (produced by significance-seeking), the combination of which severely weakens the evidence provided by every design. 3)Use of Bayes theorem to show that, in the face of weak evidence, hypotheses with low prior probabilities cannot have posterior probabilities over 50%. Thus, the claim is based on a priori assumptions that most tested hypotheses are likely to be false, and then the inferential model used makes it impossible for evidence from any study to overcome this handicap. We focus largely on step (2), explaining how the combination of dichotomization and “bias” dilutes experimental evidence, and showing how this dilution leads inevitably to the stated conclusion. We also demonstrate a fallacy in another important component of the argument –that papers in “hot” fields are more likely to produce false findings. We agree with the paper’s conclusions and recommendations that many medical research findings are less definitive than readers suspect, that P-values are widely misinterpreted, that bias of various forms is widespread, that multiple approaches are needed to prevent the literature from being systematically biased and the need for more data on the prevalence of false claims. But calculating the unreliability of the medical research literature, in whole or in part, requires more empirical evidence and different inferential models than were used. The claim that “most research findings are false for most research designs and for most fields” must be considered as yet unproven.

Behavioral dominance between female color morphs of a Lake Victoria cichlid fish

Species that exhibit genetic color polymorphism are suitable for studying the evolutionary forces that maintain heritable phenotypic variation in nature. Male color morphs often differ in behavioral dominance, affecting the evolution of color polymorphisms. However, behavioral dominance among female color morphs has received far less attention. We studied a polymorphic population of the cichlid fish Neochromis omnicaeruleus from Lake Victoria, in which 3 distinct female color morphs coexist, black-and-white blotched (WB), orange blotched (OB), and plain (P) color morphs. First, we investigated dominance relationships among female morphs using triadic and dyadic encounters in the laboratory. In triadic encounters, both WB and OB females dominated plain, whereas WB females dominated OB females. Dominance of WB over OB was confirmed using dyadic encounters. In a second experiment, blotched (WB or OB) and plain full-sib sisters were bred by crossing a blotched and a plain parent. In dyadic encounters, WB female morphs dominated their plain sisters, suggesting that dominance of WB females is a pleiotropic effect of color or that genes coding for color and those influencing behavioral dominance are genetically linked, explaining the association between color and behavioral dominance despite gene flow. We conclude that behavioral dominance asymmetries exist among female color morphs of the fish N. omnicaeruleus, and discuss possible mechanisms that may account for the tight association between color and behavioral dominance.

Die Kennerschaft zelebriert ihre Krise. Beobachtungen und Überlegungen zur Ausstellung »Der Meister von Flémalle und Rogier van der Weyden«

Die Ausstellung »Der Meister von Flémalle und Rogier van der Weyden«, die derzeit im Frankfurter Städel und ab dem 22.2.2009 in der Berliner Gemäldegalerie gezeigt wird, markiert einen neuen – vielleicht für längere Zeit letzten Rekord – in der Kategorie ›Altmeisterausstellungen‹. Die Schau ist von einem Kenner der Campin/Rogier van der Weyden-Schule, Stephan Kemperdick (Berlin), zusammen mit seinem Kollegen Jochen Sander (Frankfurt a. M.) organisiert worden. In den Presseankündigungen und in den Katalogtexten wird die Ausstellung als Chance präsentiert, bestehende Divergenzen bezüglich der Zuschreibung der überlieferten Werke an die beiden Künstler und ihre Werkstätten definitiv auszuräumen. Ist diese Hoffnung berechtigt? Zweifel sind angebracht.

Die Kennerschaft zelebriert ihre Krise. Beobachtungen und Überlegungen zur Ausstellung »Der Meister von Flémalle und Rogier van der Weyden«

Die Ausstellung »Der Meister von Flémalle und Rogier van der Weyden«, die derzeit im Frankfurter Städel und ab dem 22.2.2009 in der Berliner Gemäldegalerie gezeigt wird, markiert einen neuen – vielleicht für längere Zeit letzten Rekord – in der Kategorie ›Altmeisterausstellungen‹. Die Schau ist von einem Kenner der Campin/Rogier van der Weyden-Schule, Stephan Kemperdick (Berlin), zusammen mit seinem Kollegen Jochen Sander (Frankfurt a. M.) organisiert worden. In den Presseankündigungen und in den Katalogtexten wird die Ausstellung als Chance präsentiert, bestehende Divergenzen bezüglich der Zuschreibung der überlieferten Werke an die beiden Künstler und ihre Werkstätten definitiv auszuräumen. Ist diese Hoffnung berechtigt? Zweifel sind angebracht.

Anomic Crime in Post-Welfarist Societies. Cult of the Individual, Integration Patterns and Delinquency

Post-Fordist economies come along with post-welfarist societies marked by intensified cultural individualism and increased structural inequalities. These conditions are commonly held to be conducive to relative deprivation and, thereby, anomic crime. At the same time, post-welfarist societies develop a new ‘balance of power’ between institutions providing for welfare regulation, such as the family, the state and the (labour) market – and also the penal system. These institutions are generally expected to improve social integration, ensure conformity and thus reduce anomic crime. Combining both perspectives, we analyse the effects of moral individualism, social inequality, and different integration strategies on crime rates in contemporary societies through the lenses of anomie theory. To test our hypotheses, we draw on time-series cross-section data compiled from different data sources (OECD, UN, WHO, WDI) for twenty developed countries in the period 1970-2004, and run multiple regressions that control for country-specific effects. Although we find some evidence that the mismatch between cultural ideal (individual inclusion) and structural reality (stratified exclusion) increases the anomic pressure, whereas conservative (i. e. family-based), social-democratic (i. e. state-based) and liberal (i. e. market-based) integration strategies to a certain extent prove effective in controlling the incidence of crime, the results are not very robust. Moreover, reservations have to be made regarding the effects of “market” income inequality as well as familialist, unionist and liberalist employment policies that are shown to have reversed effects in our sample: the former reducing, the latter occasionally increasing anomic crime. As expected, the mismatch between cultural ideal (individual inclusion) and structural reality (stratified exclusion) increases the anomic pressure, whereas conservative (i. e. family-based), social-democratic (i. e. state-based) and liberal (i. e. market-based) integration strategies generally prove effective in controlling the incidence of crime. Nevertheless, we conclude that the new cult of the individual undermines the effectiveness of conservative and social-democratic integration strategies and drives societies towards more “liberal” regimes that build on incentive as well as punitive elements.

Motive Structures and Violence among Young Globalization Critics. A Statistical Typology of the Motives for Protest at the 2007 G8 Summit

The results of a questionnaire survey of 3,578 young protesters aged 15 to 24 were used to create a typology of the motive structures of the young globalization critics who participated in protests against the G8 summit in Heiligendamm in June 2007. Eight groups with different motive structures identified using cluster analysis reveal the spectrum of motives of the young demonstrators, ranging from social and political idealism to hedonistic fun-seeking and nationalist motives. Despite the diversity of motives, two cross-cluster motives can be identified: the results clearly show that the majority of respondents were motivated by political idealism and rejected violence. Two overlapping minorities were found: one where political idealism was largely lacking, and another where violence was a prominent motive.