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Pseudoscalar-pole diagrams are an important component of estimates of the hadronic light-by-light (HLbL) contribution to the muon $g-2$. We report on our computation of the transition form factors $\mathcal{F}_{P \rightarrow \gamma^* \gamma^*}$ for the neutral pseudoscalar mesons $P=\pi^0$ and $\eta$. The calculation is performed using twisted-mass lattice QCD with physical quark masses. On the lattice, we have access to a broad range of (space-like) photon four-momenta and therefore produce form factor data complementary to the experimentally accessible single-virtual direction, which directly leads to an estimate of the pion- and $\eta$-pole components of the muon $g-2$. For the pion, our result for the $g-2$ contribution in the continuum is comparable with previous lattice and data-driven determinations, with combined relative uncertainties below $10\%$. For the $\eta$ meson, we report on a preliminary determination from a single lattice spacing.

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The richness and diversity of the Moroccan Saharan flora constitutes a veritable phytogenetic reservoir with a flora that includes more than 500 aromatic and medicinal species, many of which remain unexploited. Among these plants we find Atremisia herba alba in the region of Guelmim (Sahara of Morocco) which has a great potential in phytomass and which deserves to be better valued. The objective of this work is the comparative study of the yield and chemical composition of the essential oil derived from Artemisia herba alba in Guelmim region (Sahara of Morocco) according to the date of harvest as well as the determination of its antibacterial and antifungal activity towards eleven microorganisms. Essential oils yields expressed in ml compared with 100 g of dry matter of Artemisia herba alba harvested in March, June, September and December (2015) are respectively 1.62; 0.95; 0.64 and 1.85 %. Chromatographic analyses of essential oils revealed the predominance of camphor, cis-b-terpineol, camphene, trans-thujone and trans-verbenol whose rates vary according to the plant phenological stage. The essential oil of Artemisia herba-alba collected during March was the most active against all microorganisms tested.

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This article (also online at www.articolo29.it/genius) gives a compact overview of developments in national and European law regarding same-sex partners. Over the last decades, new legal family formats (such as registered partnership and de facto union) have been made available in a growing number of countries. The number of countries that have opened up marriage to same-sex couples is also growing. Authors of comparative family law have proposed various classifications of the new legal family formats. Meanwhile, an increasing number of EU laws now acknowledge non-marital partners. The European Courts have been asked several times to rule on controversial differentiations between different legal family formats or between same-sex and different-sex partners. In the case law of the European Court of Human Rights one can find examples of affirmative eloquence which suggest that more steps towards full legal recognition of same-sex families could be expected. This article also appeared in GenIUS – Rivista di studi giuridici sull’orientamento sessuale e l’identità di genere 2014/2, p. 42-56. An earlier version of this text appeared as chapter 4 of the report: O. Thevenon & G. Neyer (eds), Family Policies and Diversity in Europe: The state-of-the-art regarding fertility, work, care, leave, laws and self-sufficiency, Stockholm: Stockholm University 2014 (FamiliesAndSocieties Working Paper Series, nr. 7, p 42-55), and in C. Casonato & A. Schuster (eds.), Rights On The Move – Rainbow Families in Europe (Proceedings of the Conference, Trento, 16-17 October 2014), Trento: University of Trento 2014, p. 121-134.

Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n = 47) and 14 additional unpublished individuals. NCBRS is clinically and genetically homogeneous. The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. There may be a correlation between the severity of the ID and presence of seizures, absent speech, short stature and microcephaly. SMARCA2 mutations causing NCBRS are likely to act through a dominant-negative effect. There may be some genotype-phenotype correlations (mutations at domain VI with severe ID and seizures; mutations affecting residues Pro883, Leu946, and Ala1201 with mild phenotypes) but numbers are still too small to draw definitive conclusions.

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Using high-resolution molecular karyotyping with SNP arrays to identify candidate genes for etiologically unexplained intellectual disability, we identified a 32-kb de novo in-frame deletion of the C-terminal helicase domain of the SMARCA2 gene in a patient with severe intellectual disability, epilepsy, sparse hair, prominent joints, and distinct facial anomalies. Sequencing of the gene in patients with a similar phenotype revealed de novo missense mutations in this domain in 2 further patients, pointing to a crucial role of the SMARCA2 C-terminal helicase domain. The clinical features observed in all 3 patients are typical of Nicolaides-Baraitser syndrome, an only rarely reported syndrome with mainly moderate to severe intellectual disability. Notably, one of our patients with a p.Gly1132Asp mutation showed typical morphological features but an exceptional good development with borderline overall IQ and learning difficulties, thus expanding the phenotypic spectrum of Nicolaides- Baraitser syndrome. During the last years, molecular karyotyping by either array-CGH or genomic profiling using SNP arrays has not only increased the diagnostic outcome in patients with intellectual disability harboring individual small chromosomal aberrations [de Vries et al., 2005; Hoyer et al., 2007] but also enabled the identification of several novel common microdeletion syndromes as reviewed by Slavotinek [2008]. Furthermore, it has also been proven to be a suitable method to identify novel disease-causing genes by initially identifying small aberrations affecting only one or few genes thus pointing to candidate genes in which subsequently mutations are identified in patients with similar phenotypes but without copy number variants. This strategy has been successful for well-known syndromic disorders such as autosomal- dominant CHARGE syndrome (MIM#214800) [Vissers et al., 2004] or autosomal recessive Peters Plus syndrome (MIM#261540) [Lesnik Oberstein et al., 2006] but also for relatively unknown entities such as Pitt-Hopkins syndrome (MIM#610954) [Amiel et al., 2007; Zweier et al., 2007], a recognizable severe intellectual disability syndrome that only came to a broad clinical awareness after identification of the underlying gene defect. Further examples are the identification of causative genes for an epileptic encephalopathy [Saitsu et al., 2008] or non-specific severe intellectual disability [Zweier et al., 2010]. In our systematic endeavor to identify new disease genes in patients with intellectual disability by molecular karyotyping, we identified a small de novo deletion within the SMARCA2 gene in a patient with short stature, intellectual disability, and distinct anomalies resembling Nicolaides-Baraitser syndrome (MIM ID %601358). By sequencing of patients with a similar phenotype, we additionally revealed missense mutations in the C-terminal helicase domain in this gene in 2 further patients. Our findings concur with another recent report identifying SMARCA2 as the gene underlying Nicolaides-Baraitser syndrome [Van Houdt et al., 2011].

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