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Progressive aortic dilation is common in Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). Risk factors for progression are poorly understood. Normal variation in the aortic root (AoR) rotational position relative to the left ventricular base may impact this risk. We aimed to assess the relationship between the rotational position of the AoR and aortic dimensions in this population. Patients with a genetic diagnosis of MFS or LDS were included. AoR and ascending aorta (AAo) dimensions were measured from the first and most recent transthoracic echocardiogram. The AoR rotational angle was measured in the parasternal short-axis plane in diastole. Linear regression was used to study the correlation between AoR rotation angle and aortic dimensions. 53 MFS and 14 LDS patients were included (age 11.5 ± 5.8 years at first TTE and 21.2 ± 7.2 years at most recent, 68% male). The mean indexed AoR and AAo values were 2.26 ± 0.58 cm/m

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder characterized by moderate to severe intellectual disability, hypotonia, craniofacial features, tapering digits, short stature, and skeletal deformities. Using whole exome sequencing and high-resolution targeted comparative genomic hybridization array analysis, we identified a novel microduplication encompassing exons five through nine of RPS6KA3 in three full brothers. Each brother presented with intellectual disability and clinical and radiographic features consistent with CLS. qRT-PCR analyses performed on mRNA from the peripheral blood of the three siblings revealed a marked reduction of RPS6KA3 levels suggesting a loss-of-function mechanism. PCR analysis of the patients' cDNA detected a band greater than expected for an exon 4-10 amplicon, suggesting this was likely a direct duplication that lies between exons 4 through 10, which was later confirmed by Sanger sequencing. This microduplication is only the third intragenic duplication of RPS6KA3, and the second and smallest reported to date thought to cause CLS. Our study further supports the clinical utility of methods such as next-generation sequencing and high-resolution genomic arrays to detect small intragenic duplications. These methods, coupled with expression studies and cDNA structural analysis have the capacity to confirm the diagnosis of CLS in these rare cases.

It is not widely known that Dimitri Mitropoulos first public appearances in Greece were as a composer. His early works (ca. 1912-1924), distinguished by the blend of elements of the late-romantic style with intensely impressionistic references, reflect the search for a personal, 'advanced' harmonic musical language. In his works written after 1924, Mitropoulos abandons tonality and adopts more modern idioms of composition (atonality and 12-tone method). He is the first Greek composer to follow the modern musical tendencies of Europe, when music by Manolis Kalomiris and the other composers of the Greek National School was dominant in Greece.

It is not widely known that Dimitri Mitropoulos first public appearances in Greece were as a composer. His early works (ca. 1912-1924), distinguished by the blend of elements of the late-romantic style with intensely impressionistic references, reflect the search for a personal, 'advanced' harmonic musical language. In his works written after 1924, Mitropoulos abandons tonality and adopts more modern idioms of composition (atonality and 12-tone method). He is the first Greek composer to follow the modern musical tendencies of Europe, when music by Manolis Kalomiris and the other composers of the Greek National School was dominant in Greece. Malo je poznato da je Dimitri Mitropulos (1896-1960) svoja prva javna istupanja u Grčkoj ostvario kao kompozitor. Njegova rana dela (oko 1912-1924), koja se odlikuju kombinovanjem poznoromantičarskih i impresionističkih stilskih elemenata, ukazuju na kontinuitet mladalačkog traganja za ličnim, 'naprednim' harmonskim jezikom. U ostvarenjima posle 1924, autor napušta tonalnost i usvaja mnogo moderniji kompozicioni jezik (atonalnost i dodekafoniju). Sledeći liniju neoklasicizma, Mitropulos se inspiraše muzičkim formama minulih vremena (pasakalja, invencija, fuga sonata itd). Ipak, ne prepušta se pasivno njihovim zakonitostima. On rado prihvata revolucionarne kompozicione tenedencije svoga doba i primenjuje ih u ka- snim delima. Zalazi u područje atonalnosti, ali ne odustaje od tradicionalnih tonaliteta. U većini dela koristi atonalnost, pa čak i metode dodekafonskog komponovanja, svesno nastojeći da poveže staro sa novim, odnosno da dođe do kreativnog spoja kompozicione tehnike svog vremena i bliže i dalje prošlosti. Među ostvarenjima nastalim između 1924. i 1928, tri dela su sagledana kao najznačajnija: Passacaglia, Intermezzo e Fuga (prva atonalna kompozicija), Ostinata za violinu i klavir (prvo dodekafonsko delo) i Concerto Grosso (poslednje delo ovog perioda koje u potpunosti svedoči o postizanju ličnog stvaralačkog izraza). Uprkos intelektualnoj privlačnosti neoklasičnih principa, koja je delovala na Mitropulosa, sva tri ostvarenja ukazuju na kompozitorovu unutrašnju borbu sa romantičarskom izrazito emocionalnom prirodom. Kada se obraćao delima 'apsolutne muzike', za njega su neoklasični elementi predstavljali svojevrsno sredstvo 'samozaštite' od nekontrolisanih stvaralačkih izliva sopstvene romantičarske prirode.