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Introduction: Self-regulation failure can be explained by self-licensing which is coming up with reasons (i.e. justifications) that make the prospective goal-discrepant behaviour acceptable to oneself. In the present study it is assumed that self-esteem and self-affirmation are important in relation to self-licensing. The design of this study is an experimental between-participants design with one factor that is manipulated (self-licensing vs. control condition) It was hypothesized that self-licensing could affect self-affirmation, assuming that engaging in selflicensing leads to less self-affirmation; self-esteem could predict self-affirmation assuming that high self-esteem leads to less self-affirmation and self-licensing and self-esteem could interact in predicting self-affirmation, assuming that high self-esteem leads to weaker effects of self-licensing on self-affirmation than low self-esteem. Method: The study was conducted online, and 130 participants were randomly assigned to the control or selflicensing condition. In the self-licensing condition, a vignette was presented in which an individual used an emotion as a license to justify their goal discrepant behaviour; in the control condition this license was absent. Afterwards, the variables self-esteem, self-affirmation and restrained eating were measured. Results: Expectations were not confirmed. Results did show a relation between self-esteem and self-affirmation. The higher the selfesteem, the more self-affirmation participants used. Discussion: Findings are discussed in light of the limitations of the present study and recommendations are provided for future avenues.

There seems to be an important relationship between type of emotion regulation, adaptive or maladaptive, and eating behaviour. The focus of the literature to date is mainly on reappraisal and suppression. This online study sought to extend the findings thus far to another maladaptive emotion regulation strategy, rumination. An autobiographical sadnessevoking event was recalled. Then participants were randomly allocated to a rumination condition to trigger maladaptive emotion regulation, or a reappraisal condition to trigger adaptive emotion regulation. Desire to eat was repeatedly measured at pre-recall, post-recall and post-emotion regulation. Findings revealed that desire to eat decreased after a sadness evoking event was recalled but remained untouched by the emotion regulation manipulation. The desire to eat was the same whether you ruminated or reappraised emotions. Findings are carefully interpreted in light of this study being the first to experimentally test the effect of rumination on desire to eat. More empirical evidence is necessary to make sound conclusions about the relationship between the maladaptive emotion regulation strategy rumination and eating behaviour.

Many marine industries may pose acute risks to marine wildlife. For example, tidal turbines have the potential to injure or kill marine mammals through collisions with turbine blades. However, the quantification of collision risk is currently limited by a lack of suitable technologies to collect long‐term data on marine mammal behaviour around tidal turbines.Sonar provides a potential means of tracking marine mammals around tidal turbines. However, its effectiveness for long‐term data collection is hindered by the large data volumes and the need for manual validation of detections. Therefore, the aim here was to develop and test automated classification algorithms for marine mammals in sonar data.Data on the movements of harbour seals were collected in a tidally energetic environment using a high‐frequency multibeam sonar on a custom designed seabed‐mounted platform. The study area was monitored by observers to provide visual validation of seals and other targets detected by the sonar.Sixty‐five confirmed seals and 96 other targets were detected by the sonar. Movement and shape parameters associated with each target were extracted and used to develop a series of classification algorithms. Kernel support vector machines were used to classify targets (seal vs. nonseal) and cross‐validation analyses were carried out to quantify classifier efficiency.The best‐fit kernel support vector machine correctly classified all the confirmed seals but misclassified a small percentage of non‐seal targets (~8%) as seals. Shape and non‐spectral movement parameters were considered to be the most important in achieving successful classification.Results indicate that sonar is an effective method for detecting and tracking seals in tidal environments, and the automated classification approach developed here provides a key tool that could be applied to collecting long‐term behavioural data around anthropogenic activities such as tidal turbines.

Background: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification. Methods: We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals. Results: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD. Conclusions: Due to the overlap

BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification. METHODS: We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals. RESULTS: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD. CONCLUSIONS: Due to the overlap

This chapter aims to disambiguate or make unambiguous the shift in thinking regarding educational direction from administration to leadership and discusses why, in reviewing the history of educational administration as viewed through its textbooks, Glass declared (2004, p.121), ‘Perhaps the future of general texts is a focus on leadership. Leadership texts supported by casebooks may become dominant adoptions in the standards-driven era of twenty-first century reform’. We review possible explanations for this shift and posit a perspective regarding the nature and potency of leadership that has heretofore not been considered in our on-going research on leadership as connoisseurship (Ehrich & English, 2013; English & Ehrich, 2016). In doing so, we will visit the intersection of the intellectual/conceptual history of educational administration and consider that record with the politics of ideas as they compete for influence and dominance in our field.

Background: In order to reduce the number of people unaware of their HIV diagnosis and to encourage regular testing, it is important to have testing facilities that fit the need of their users. A first step towards reaching optimal testing conditions is to investigate the needs, specifically among high-risk groups such as men who have sex with men (MSM). The needs of MSM for HIV testing, and why they prefer certain test facilities are largely unknown. In the present study, we aim to fill this void with a needs assessment. Methods: This study was a web-based survey, published on several (gay) websites exploring testing behavior and testing needs. Needs were measured with 21 facility characteristics, stratified for MSM who never or ever tested, further divided in irregular tested or regular tested. Results: A total of 179 MSM aged 16 to 70 years completed the survey of whom 13.4% never tested for HIV. Of the ever tested MSM 53.5% was irregular tested. Never tested and irregular tested MSM had significant lower test intentions than regular tested MSM. Never tested MSM have higher needs for testing in weekends, anonymity, privacy and choosing the type of test compared to ever tested MSM. Irregular testers have higher need for choosing the type of test and less need for 24/7 accessibility of the facility compared to regular testers. The STI clinics are the preferred test location amongst all MSM. Conclusions: Testing facilities in the Netherlands work well, as the never tested group is small. However, there are some improvements that can help changing the consistency with which MSM test and further reduce the group of never and irregular testers, who have been at risk of acquiring HIV.

Background Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. Objectives This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis. Methods We combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography, and transthoracic echocardiography was performed. In adults, imaging of the entire aorta using computed tomography or magnetic resonance imaging was done. Results Here, we report on 43 patients from 11 families with syndromic presentations of aortic aneurysms caused by TGFB3 mutations. We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity. In line with previous observations in aortic wall tissues of patients with mutations in effectors of TGF-β signaling (TGFBR1/2, SMAD3, and TGFB2), we confirm a paradoxical up-regulation of both canonical and noncanonical TGF-β signaling in association with up-regulation of the expression of TGF-β ligands. Conclusions Our findings emphasize the broad clinical variability associated with TGFB3 mutations and highlight the importance of early recognition of the disease because of high cardiovascular risk.

Contains fulltext : 153458.pdf (publisher's version ) (Open Access), BACKGROUND: Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-beta signaling. OBJECTIVES: This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis. METHODS: We combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography, and transthoracic echocardiography was performed. In adults, imaging of the entire aorta using computed tomography or magnetic resonance imaging was done. RESULTS: Here, we report on 43 patients from 11 families with syndromic presentations of aortic aneurysms caused by TGFB3 mutations. We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity. In line with previous observations in aortic wall tissues of patients with mutations in effectors of TGF-beta signaling (TGFBR1/2, SMAD3, and TGFB2), we confirm a paradoxical up-regulation of both canonical and noncanonical TGF-beta signaling in association with up-regulation of the expression of TGF-beta ligands. CONCLUSIONS: Our findings emphasize the broad clinical variability associated with TGFB3 mutations and highlight the importance of early recognition of the disease because of high cardiovascular risk.

Contains fulltext : 153652.pdf (publisher's version ) (Open Access), BACKGROUND: Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK mutations have also been reported in males. The associated phenotypes range from nonsyndromic ID to Ohtahara syndrome with cerebellar hypoplasia. However, the phenotypic spectrum in males has not been systematically evaluated to date. METHODS: We identified a CASK alteration in 8 novel unrelated male patients by targeted Sanger sequencing, copy number analysis (MLPA and/or FISH) and array CGH. CASK transcripts were investigated by RT-PCR followed by sequencing. Immunoblotting was used to detect CASK protein in patient-derived cells. The clinical phenotype and natural history of the 8 patients and 28 CASK-mutation positive males reported previously were reviewed and correlated with available molecular data. RESULTS: CASK alterations include one nonsense mutation, one 5-bp deletion, one mutation of the start codon, and five partial gene deletions and duplications; seven were de novo, including three somatic mosaicisms, and one was familial. In three subjects, specific mRNA junction fragments indicated in tandem duplication of CASK exons disrupting the integrity of the gene. The 5-bp deletion resulted in multiple aberrant CASK mRNAs. In fibroblasts from patients with a CASK loss-of-function mutation, no CASK protein could be detected. Individuals who are mosaic for a severe CASK mutation or carry a hypomorphic mutation still showed detectable amount of protein. CONCLUSIONS: Based on eight novel patients and all CASK-mutation positive males reported previously three phenotypic groups can be distinguished that represent a clinical continuum: (i) MICPCH with severe epileptic encephalopathy caused by hemizygous loss-of-function mutations, (ii) MICPCH associated with inactivating alterations in the mosaic state or a partly penetrant mutation, and (iii) s

Item does not contain fulltext, 22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22-A and LCR22-D. Loss of the TBX1 gene is considered the most important cause of the phenotype. A limited number of patients with smaller, overlapping deletions distal to the TBX1 locus have been described in the literature. In these patients, the CRKL gene is deleted. Haploinsufficiency of this gene has also been implicated in the pathogenesis of 22q11.2 deletion syndrome. To distinguish these deletions (comprising the LCR22-B to LCR22-D region) from the more distal 22q11.2 deletions (located beyond LCR22-D), we propose the term "central 22q11.2 deletions". In the present study we report on 27 new patients with such a deletion. Together with information on previously published cases, we review the clinical findings of 52 patients. The prevalence of congenital heart anomalies and the frequency of de novo deletions in patients with a central deletion are substantially lower than in patients with a common or distal 22q11.2 deletion. Renal and urinary tract malformations, developmental delays, cognitive impairments and behavioral problems seem to be equally frequent as in patients with a common deletion. None of the patients had a cleft palate. Patients with a deletion that also encompassed the MAPK1 gene, located just distal to LCR22-D, have a different and more severe phenotype, characterized by a higher prevalence of congenital heart anomalies, growth restriction and microcephaly. Our results further elucidate genotype-phenotype correlations in 22q11.2 deletion syndrome spectrum.

Item does not contain fulltext, Cross-sectional studies have shown a positive association between expressive suppression and depressive symptoms. These results have been interpreted as reflecting the impact of emotion regulation efforts on depression. However, it is also possible that depression may alter emotion regulation tendencies. The goal of the present study was to prospectively examine the bidirectional association between habitual use of suppression and depressive symptoms in young adolescents. Participants were 1,753 adolescents (mean age = 13.8 years) who reported their use of suppression and depressive symptoms at two time points with a 1-year interval. Suppression and depressive symptoms were correlated within each time point. Depressive symptoms preceded increased use of suppression 1 year later, but suppression did not precede future depressive symptoms. Overall, the findings suggest depressive symptoms may be a potential precursor of habitual use of suppression during adolescence.