Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and... Show moreNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF. Show less
Sluijs, P.J. van der; Jansen, S.; Vergano, S.A.; Adachi-Fukuda, M.; Alanay, Y.; AlKindy, A.; ... ; Santen, G.W.E. 2019
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far... Show morePurpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.Methods: Clinicians entered clinical data in an extensive webbased survey.Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. Show less
Ivanovski, I.; Djuric, O.; Caraffi, S.G.; Santodirocco, D.; Pollazzon, M.; Rosato, S.; ... ; Garavelli, L. 2018
Asef Bayat laat zien dat gewone mensen ondanks de dominantie van de autoritaire staat in staat zijn om via alternatieve wegen zich te laten gelden. Politieke en maatschappelijke veranderingen komen... Show moreAsef Bayat laat zien dat gewone mensen ondanks de dominantie van de autoritaire staat in staat zijn om via alternatieve wegen zich te laten gelden. Politieke en maatschappelijke veranderingen komen niet van revoluties en massaprotesten; de belangrijkste motoren van verandering zijn de 'non-movements', de verbrokkelde gemeenschappen van armen, vrouwen of jongeren die gezamenlijk optrekken. Life as Politics biedt een nieuw perspectief op het maatschappelijk activisme en de dynamiek van verandering in het islamitische Midden-Oosten. Asef Bayat is hoogleraar Islam en Moderne Werld aan de Universiteit Leiden, en Academisch directeur van het ISIM. Show less
Perpetrated by the media and policy circles, the language of clash currently dominates interreligious and intercultural relations, overlooking the more common human practices based upon association... Show morePerpetrated by the media and policy circles, the language of clash currently dominates interreligious and intercultural relations, overlooking the more common human practices based upon association and cooperation. It is therefore high time to invoke the notion of “everyday cosmopolitanism” both as a scholarly inquiry and an ethical project. Show less
In the current debate on migration to Europe, a central concern has emerged over the “marginality” of Muslim communities, in other words, their seeming failure to “integrate” into the mainstream... Show moreIn the current debate on migration to Europe, a central concern has emerged over the “marginality” of Muslim communities, in other words, their seeming failure to “integrate” into the mainstream life world. Migrants congregating in mosques or Muslim community centres, attending Islamic schools, wearing headscarves and exotic “traditional” clothes, and turning to non-European television programmes are seen as an anomaly in the social body of European societies. Underlying this anxiety is the implicit assumption that Muslim peoples have an exceptionally primordial attachment to “tradition”—some immutable “Islamic ways of life”—that is incompatible with modern European values and which stands in the way of their integration. Show less
In this article Bayat challenges the widespread assumption that Islam is incompatible with democracy and argues that analysis should focus instead on the conditions in which Muslims can make Islam... Show moreIn this article Bayat challenges the widespread assumption that Islam is incompatible with democracy and argues that analysis should focus instead on the conditions in which Muslims can make Islam embrace democratic ethos. Detailing the different trajectories of Iran and Egypt, the article concludes that the extent to which Muslim citizens gain the skill and spirit to assert collective will, in spite of constraints—that is, master the art of presence—proves crucial in the road towards democratic polity. Show less
Currently, many people seem to be preoccupied with creating or discussing conspiracy theories. At the same time, others discredit unwelcome inquiries into hidden political agendas by labelling the... Show moreCurrently, many people seem to be preoccupied with creating or discussing conspiracy theories. At the same time, others discredit unwelcome inquiries into hidden political agendas by labelling the resulting ideas “conspiracy theories.” In such an environment, the distinction between fantasy and critical thought tends to become blurred. Only by acknowledging that real conspiracies exist, and by refuting ideas that cannot be empirically staved, will we be able to analyse political situations in a manner that is neither politically naïve nor the product of a conspiracist mindset. Show less
The ISIM, in collaboration with the International Institute for Asian Studies (IIAS), organized a workshop, “The making of Muslim Youths: Youth Cultures & Politics in Muslim Societies and... Show moreThe ISIM, in collaboration with the International Institute for Asian Studies (IIAS), organized a workshop, “The making of Muslim Youths: Youth Cultures & Politics in Muslim Societies and Communities.” The workshop took place 18 to 19 February at Leiden University and was convened by Asef Bayat. Show less
On 26 April 2005 Asef Bayat presented his inaugural lecture at Leiden University entitled, “Islam and Democracy: Perverse Charm of an Irrelevant Question,” presented here in extracted form. He... Show moreOn 26 April 2005 Asef Bayat presented his inaugural lecture at Leiden University entitled, “Islam and Democracy: Perverse Charm of an Irrelevant Question,” presented here in extracted form. He posits that Islamist movements in Muslim societies are undergoing a post-Islamist turn characterized by rights instead of duties, plurality in place of a singular authoritative voice, historicity rather than fixed scriptures, and the future instead of the past. The full text of the lecture will be available through ISIM and Leiden University. Show less
The Middle East is currently saturated with talk about “change.” Yet, the resiliency of authoritarianism and patriarchy in the region coupled with the evident failure of “democratization”-by... Show moreThe Middle East is currently saturated with talk about “change.” Yet, the resiliency of authoritarianism and patriarchy in the region coupled with the evident failure of “democratization”-by-conquest have plunged this part of the world into a depressing impasse. The region’s Muslim majority is caught up between, on the one hand, authoritarian regimes or fundamentalist inspired opposition, both of which tend to impose severe social control in the name of nation and religion, and on the other, flagrant foreign intervention and occupation in the name of democratization. We witness, then, a clear abuse of faith, freedom, and the faithful. In the midst of this, however, one thing has become clearer. If a meaningful change is to occur in these societies it should come from within, through the self-assertion of societal forces in a democratic direction. But the monumental question is how? Show less
