BackgroundConstitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes.MethodsA web-based interactive ‘Human Ring Chromosome Registry’ using Microsoft Access based relational database was developed to present genetic and phenotypic findings of ring chromosome cases. Chinese ring chromosome cases reported in the literature was reviewed and compiled as a testing data set to validate this registry.ResultsA total of 113 cases of ring chromosomes were retrieved in all chromosomes except for chromosomes 16, 17 and 19. The most frequently seen ring chromosomes by a decreasing order of relative frequencies were ring 13 (14%), X (12%), 22 (10%), 15 (9%), 14 (7%), and 18 (7%). Genomic imbalances were detected in 18 out of 19 cases analyzed by microarray or sequencing. Variable clinical manifestations of developmental delay, dysmorphic facial features, intellectual disability, microcephaly, and hypotonia were noted in most autosomal rings. Chromosomal specific syndromic phenotypes included Wolf-Hirschhorn syndrome in a ring chromosome 4, cri-du-chat syndrome in a ring chromosome 5, epilepsy in ring chromosomes 14 and 20, Turner syndrome in ring chromosome X, and infertility in ring chromosomes 13, 21, 22 and Y. Effective growth hormone supplemental treatment for growth retardation in a ring chromosome 18 was noted.ConclusionsBased on findings from these Chinese ring chromosome cases, guidelines for cytogenomic diagnosis and criteria for case registration were proposed. Further research to define underlying mechanisms of ring chromosome formation and dynamic mosaicism, to delineate the genotype-phenotype correlations, and to develop chromosome therapy for ring chromosomes were discussed.Electronic supplementary materialThe online version of this article (10.1186/s13039-018-0367-3) contains supplementary material, which is available to authorized users.

Given its tumor-specific expression, including liver cancer, OY-TES-1 is a potential molecular marker for the diagnosis and immunotherapy of liver cancers. However, investigations of the mechanisms and the role of OY-TES-1 in liver cancer are rare. In the present study, based on a comprehensive bioinformatic analysis combined with RNA interference (RNAi) and oligonucleotide microarray, we report for the first time that downregulation of OY-TES-1 resulted in significant changes in expression of NANOG, CD9, CCND2 and CDCA3 in the liver cancer cell line BEL-7404. NANOG, CD9, CCND2 and CDCA3 may be involved in cell proliferation, migration, invasion and apoptosis, yet also may be functionally related to each other and OY-TES-1. Among these molecules, we identified that NANOG, containing a Kazal-2 binding motif and homeobox, may be the most likely candidate protein interacting with OY-TES-1 in liver cancer. Thus, the present study may provide important information for further investigation of the roles of OY-TES-1 in liver cancer.

Herein we report an adaptive, achiral trithiourea molecular cage and its conformational and stereodynamics toward tricarboxylate anion binding. The cage was readily synthesized in four steps with a 44% yield for the irreversible cage-forming reaction. It possesses a flexible conformation and strongly binds 1,3,5-benzene tricarboxylate by forming a sandwich-like inclusion complex, with an affinity up to 106 M–1 in acetonitrile. Upon binding, the cage is locked in a twisted helical conformation. By incorporation of three chiral arms on the guest, a gear-like complex dominant in one given helical sense was produced. Due to the steric crowding in the helical grooves, a small change of methyl to ethyl on guest caused a striking difference on binding and chiral induction. The system thus represents a rare example of chiral induction on a flexible, achiral host and provides a decoupled model that the generation of a racemate and following chiral discrimination can be individually probed.

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Original scientific paperTo facilitate the automation process in the Internet of Things, the research issue of distinguishing prospective services out of many "similar" services, and identifying needed services w.r.t the criteria of Quality of Service (QoS), becomes very important. To address this aim, we propose heuristic optimization, as a robust and efficient approach for solving complex real world problems. Accordingly, this paper devises a cooperative evolution approach for service composition under the restrictions of QoS. A series of effective strategies are presented for this problem, which include an enhanced local best first strategy and a global best strategy that introduces perturbations. Simulation traces collected from real measurements are used for evaluating the proposed algorithms under different service composition scales that indicate that the proposed cooperative evolution approach conducts highly efficient search with stability and rapid convergence. The proposed algorithm also makes a well-designed trade-off between the population diversity and the selection pressure when the service compositions occur on a large scale.Key words: Cooperative evolution, IOT service composition, Quality of service Kooperativna evolucija za kvalitetno pružanje usluga u paradigmi Interneta stvari. Kako bi se automatizirali procesi u internetu stvati, nužno je rezlikovati bitne usluge u moru sličnih kao i identificirati potrebne usluge u pogledu kvalitete usluge (QoS). Kako bi doskočili ovome problemu prdlaže se heuristička optimizacija kao robustan i efikasan način rješavajne kompleksnih problema. Nadalje, učlanku je predložen postupak kooperativne evolucije za slaganje usluga uz ograničenja u pogledu kvalutete usluge. Predstavljen je niz efektivnih strategija za spomenuti problem uključujući strategije najboljeg prvog i najboljeg globalnog koje unose perturbacije u polazni problem. Simulacijski rezultati kao i stvarni podatci su korišteni u svrhu evaluacije prodloženog algoritma kako bi se osigurala efikasna pretraga uz stabilnost i brzu konvergenciju. Predloženi algoritam takoer vodi računa o odnosu izmeu različitosti populacije i selekcijskog pritiska kada je potrebno osigurati slaganje usluga na velikoj skali.Ključne riječi: kooperativna evolucija, Internet stvari pružanje usluge, kvaliteta usluge

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