Il mercato antiquariale nella Venezia di Ruskin. L'arte medievale in Germania

I primi viaggi di Ruskin a Venezia cadono durante la dominazione austriaca, una lunga fase che vede una dispersione di materiali medievali veneziani che sono divenuti oggetto d’interesse per un mercato che risponde a sollecitazioni diverse: privati collezionisti, amatori e turisti stranieri che cercano “souvenir” ma anche committenze elevate finalizzate alla costituzione di musei e luoghi evocativi. È questo il caso dell’imponente acquisto negli anni Quaranta ( committente Federico Guglielmo di Prussia) di sculture antiche e medievali in Italia che andranno a costituire un importante nucleo per il museo di arte medievale e bizantina dei musei di stato in corso di costruzione. Tra queste si trova un gruppo interessante di opere veneziane acquistate tutte presso un unico commerciante veneziano (Pajaro). Anche il fratello di Federico Gugliemo, Carlo, acquista arte veneziana per ricreare nel castello di Glienicke un chiostro veneziano. Ancora: la Friedenkirche a Potsdam viene ornata da un mosaico acquistato a Murano dalla demolita chiesa di san Cipriano. Frammenti e opere intere vanno quindi a costituire raccolte destinate al pubblico e alla sua educazione, oppure a impreziosire edifici neomedievali o evocativi. Una spoliazione che va in direzione opposta all’attenzione di Ruskin. L’occhio e la mano di Ruskin ci hanno consegnato documentazione grafica e visiva di un patrimonio in contesto. I suoi scritti sono animati dalla attenzione ad ogni frammento, come testimonianza di un fare che è anche storia. Delle esportazioni delle opere medievali resta traccia anche nella reazione di veneziani (Seguso in primis) e si può cogliere non solo negli scritti ma nelle azioni successive la crescita di una attenzione e una sensibilità per un patrimonio che verrà sentito come identitario. Dopo l’annessione all’Italia pur non cessando l’azione del mercato e le vendite possiamo riscontrare una dinamica non solo di attenzione e forte impegno nel restauro di monumenti significativi, ma anche la costituzione di musei dove trovano posto i frammenti emersi da restauri e le sculture decontestualizzate in nome di un nuovo spirito e di una attenzione di cui Ruskin è stato attivo promotore e protagonista

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

SwissPedData: Standardising hospital records for the benefit of paediatric research

Background Improvement of paediatric healthcare is hampered by inefficient processes of generating new evidence. Clinical research often requires extra encounters with patients, is costly, takes place in an artificial situation with a biased selection of patients, and entails long delays until new evidence is implemented into health care. Electronic health records (EHR) contain detailed information on real patients and cover the entirety of patients. However, the use of EHR for research is limited because they are not standardized between hospitals. This leads to disproportionate amounts of work for extracting data of interest and frequently data are incomplete and of poor quality. Aims SwissPedData aims to lay the foundation for a paediatric learning health system in Switzerland by facilitating EHR-based research. In this project, we aimed to assess the way routine clinical data are currently recorded in large paediatric clinics in Switzerland and to develop a national EHR-based common data model (CDM) that covers all processes of routine paediatric care in hospitals. Methods A taskforce of paediatricians from large Swiss children's hospitals reviewed the current status of routine data documentation in paediatric clinical care and the extent of digitalization. We then used a modified Delphi method to reach a broad consensus on a national EHR-based CDM. Results All Swiss children's hospitals use EHR to document some or all aspects of care. 119 paediatricians, representing eight hospitals and all paediatric subspecialties, participated in an extended Delphi process to create SwissPedData. The group agreed on a national CDM that comprises a main module with general paediatric data and sub-modules relevant to paediatric subspecialties. The data dictionary includes 336 common data elements (CDEs): 76 in the main module on general paediatrics and between 11 and 59 CDEs per subspecialty module. Among these, 266 were classified as mandatory, 52 as recommended and 18 as optional. Conclusion SwissPedData is a CDM for information to be collected in EHR of Swiss children's hospitals. It covers all care processes including clinical and paraclinical assessment, diagnosis, treatment, disposition and care site. All participating hospitals agreed to implement SwissPedData in their clinical routine and clinic information systems. This will pave the way for a national paediatric learning health system in Switzerland that enables fast and efficient answers to urgent clinical questions by facilitating high-quality nationwide retrospective and prospective observational studies and recruitment of patients for nested prospective studies and clinical trials

Outcomes for Infants Born in Perinatal Centers Performing Fewer Surgical Ligations for Patent Ductus Arteriosus: A Swiss Population-Based Study

Objective To assess patent ductus arteriosus treatment variation between Swiss perinatal centers and to determine its effect on outcome in a population-based setting. Study design This was a retrospective cohort study of infants born less than 28 weeks of gestation between 2012 and 2017. Outcomes between surgically ligated and pharmacologically treated infants as well as infants born in centers performing ≤10% ligation (“low” group) and >10% (“high” group) were compared using logistic regression and 1:1 propensity score matching. Matching was based on case-mix and preligation confounders: intraventricular hemorrhages grades 3-4, necrotizing enterocolitis, sepsis, and ≥28 days’ oxygen supply. Results Of 1389 infants, 722 (52%) had pharmacologic treatment and 156 (11.2%) received surgical ligation. Compared with infants who received pharmacologic treatment, ligated infants had greater odds for major morbidities (OR 2.09, 95% CI 1.44-3.04) and 2-year neurodevelopmental impairment (OR 1.81, 95% CI 1.15-2.84). Mortality was comparable after restricting the cohort to infants surviving at least until day 10 to avoid survival bias. In the “low” group, 34 (4.9%) of 696 infants were ligated compared with 122 (17.6%) of 693 infants in the “high” group. Infants in the “high” group had greater odds for major morbidities (OR 1.49, 95% CI 1.11-2.0). Conclusions Our analysis identified a burden on infants receiving surgical ligation vs pharmacologic treatment in a population-based setting where there was no agreed-on common procedure. These results may guide a revision of patent ductus arteriosus treatment practice in Switzerland

Replication Data for: Design and validation of a 90K SNP genotyping assay for the Water Buffalo (Bubalus bubalis)

This .zip file contains 3 files: 2 PLINK files containing the genotype information and one residual file containing the phenotypic information used for this paper. - genabelLATT.tped -> Transposed ped file in PLINK format. Genotypes are already edited for MAF as declared in the paper. - genabelLATT.tfam -> Transposed map file in PLINK format, containing 529 individuals. - RESIDUALS.txt -> File containing the residuals used for the GWAS in this paper. The model used to obtain this data from raw files was: Lact_record ~ Farm + CalvYear + CalvMonth + CalvingNumber + Age + Polygenic_effect + e The "e" term was then used as dependent variable in a GWAS using qtscore function in GENABEL

Clinical data for paediatric research: the Swiss approach [meeting report].

Continuous improvement of health and healthcare system is hampered by inefficient processes of generating new evidence, particularly in the case of rare diseases and paediatrics. Currently, most evidence is generated through specific research projects, which typically require extra encounters with patients, are costly and entail long delays between the recognition of specific needs in ealthcare and the generation of necessary evidence to address those needs. The Swiss Personalised Health Network (SPHN) aims to improve the use of data obtained during routine healthcare encounters by harmonizing data across Switzerland and facilitating accessibility for research. The project “Harmonising the collection of health-related data and biospecimens in paediatric hospitals throughout Switzerland (SwissPedData)” was an infrastructure development project funded by the SPHN, which aimed to identify and describe available data on child health in Switzerland and to agree on a standardised core dataset for electronic health records across all paediatric teaching hospitals. Here, we describe the results of a two-day symposium that aimed to summarise what had been achieved in the SwissPedData project, to put it in an international context, and to discuss the next steps for a sustainable future. The target audience included clinicians and researchers who produce and use health-related data on children in Switzerland

Replication Data for: Design and validation of a 90K SNP genotyping assay for the Water Buffalo (Bubalus bubalis)

This .zip file contains 3 files: 2 PLINK files containing the genotype information and one residual file containing the phenotypic information used for this paper. - genabelLATT.tped -> Transposed ped file in PLINK format. Genotypes are already edited for MAF as declared in the paper. - genabelLATT.tfam -> Transposed map file in PLINK format, containing 529 individuals. - RESIDUALS.txt -> File containing the residuals used for the GWAS in this paper. The model used to obtain this data from raw files was: Lact_record ~ Farm + CalvYear + CalvMonth + CalvingNumber + Age + Polygenic_effect + e The "e" term was then used as dependent variable in a GWAS using qtscore function in GENABEL

Design and validation of a 90K SNP genotyping assay for the water buffalo (Bubalus bubalis)

Background: The availability of the bovine genome sequence and SNP panels has improved various genomic analyses, from exploring genetic diversity to aiding genetic selection. However, few of the SNP on the bovine chips are polymorphic in buffalo, therefore a panel of single nucleotide DNA markers exclusive for buffalo was necessary for molecular genetic analyses and to develop genomic selection approaches for water buffalo. The creation of a 90K SNP panel for river buffalo and testing in a genome wide association study for milk production is described here. Methods: The genomes of 73 buffaloes of 4 different breeds were sequenced and aligned against the bovine genome, which facilitated the identification of 22 million of sequence variants among the buffalo genomes. Based on frequencies of variants within and among buffalo breeds, and their distribution across the genome, inferred from the bovine genome sequence, 90,000 putative single nucleotide polymorphisms were selected to create an Axiom\uc2\uae Buffalo Genotyping Array 90K. Results: This 90K \ue2\u80\u9cSNP-Chip\ue2\u80\u9d was tested in several river buffalo populations and found to have *70% high quality and polymorphic SNPs. Of the 90K SNPs about 24K were also found to be polymorphic in swamp buffalo. The SNP chip was used to investigate the structure of buffalo populations, and could distinguish buffalo from different farms. A Genome Wide Association Study identified genomic regions on 5 chromosomes putatively involved in milk production. Conclusion: The 90K buffalo SNP chip described here is suitable for the analysis of the genomes of river buffalo breeds, and could be used for genetic diversity studies and potentially as a starting point for genome-assisted selection programmes. This SNP Chip could also be used to analyse swamp buffalo, but many loci are not informative and creation of a revised SNP set specific for swamp buffalo would be advised