Performance of Edmonton Frail Scale on frailty assessment: its association with multi-dimensional geriatric conditions assessed with specific screening tools.

BACKGROUND: The aim of this study was to evaluate the performance of Edmonton Frail Scale (EFS) on frailty assessment in association with multi-dimensional conditions assessed with specific screening tools and to explore the prevalence of frailty by gender. METHODS: We enrolled 366 hospitalised patients (women\men: 251\115), mean age 81.5 years. The EFS was given to the patients to evaluate their frailty. Then we collected data concerning cognitive status through Mini-Mental State Examination (MMSE), health status (evaluated with the number of diseases), functional independence (Barthel Index and Activities Daily Living; BI, ADL, IADL), use of drugs (counting of drugs taken every day), Mini Nutritional Assessment (MNA), Geriatric Depression Scale (GDS), Skeletal Muscle Index of sarcopenia (SMI), osteoporosis and functionality (Handgrip strength). RESULTS: According with the EFS, the 19.7% of subjects were classified as non frail, 66.4% as apparently vulnerable and 13.9% with severe frailty. The EFS scores were associated with cognition (MMSE: ß = 0.980; p < 0.01), functional independence (ADL: ß = -0.512; p < 0.00); (IADL: ß = -0.338; p < 0.01); use of medications (ß = 0.110; p < 0.01); nutrition (MNA: ß = -0.413; p < 0.01); mood (GDS: ß = -0.324; p < 0.01); functional performance (Handgrip: ß = -0.114, p < 0.01) (BI: ß = -0.037; p < 0.01), but not with number of comorbidities (ß = 0.108; p = 0.052). In osteoporotic patients versus not-osteoporotic patients the mean EFS score did not differ between groups (women: p = 0.365; men: p = 0.088), whereas in Sarcopenic versus not-Sarcopenic patients, there was a significant differences in women: p < 0.05. CONCLUSIONS: This study suggests that measuring frailty with EFS is helpful and performance tool for stratifying the state of fragility in a group of institutionalized elderly. As matter of facts the EFS has been shown to be associated with several geriatric conditions such independence, drugs assumption, mood, mental, functional and nutritional status.

Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact.

Long QT syndrome (LQTS) is one the best characterized disorders among all inherited arrhythmogenic syndromes. A multi-parametric risk stratification scheme, which includes clinical variables (QTc, gender) and the main LQTS genotypes, was defined in the early 2000s and is currently used in clinical practice. However, the evidence of a marked phenotypic variability, even in the presence of the same genetic mutation has puzzled many investigators since the discovery of LQTS genes. Practically, variable expression in LQTS often limits the predictive accuracy of risk stratification markers. Therefore, in a subset of cases, the identification of subjects at a high risk of life-threatening arrhythmias and sudden death is difficult. The discovery of common genetic variants that explain the heritable components of the human electrocardiogram, including QT interval, generated the hypothesis that genetic modifiers may account for phenotypical variability in LQTS. Despite the fact that multiple SNPs have been linked to QT interval duration, clinical applications of any findings are limited by the small effect sizes conferred by single SNPs and incomplete knowledge on their functional consequences. Nevertheless, the possibility of introducing SNP genotyping in risk stratification schemes to improve patient-specificity is an attractive goal. Here we review the currently available evidence and future perspectives for the inclusion of genetic modifiers in the clinical management of LQTS.

Synthesis, crystal and molecular structure of [Sn(eta 4-P2C2But2)]: the first non transition metal 1,3-diphosphacyclobutadienyl compound.

Treatment of [Zr(eta 5-C5H5)2(PCBut)2] with SnCl2 led to the novel monomeric (1,3-diphosphacyclobutadienyl)tin(II) half sandwich complex [Sn(eta 4-P2C2But2)] which has been characterised by multinuclear NMR spectroscopy and in the solid state by a single crystal X-ray diffraction study.

Generation of a genomic tiling array of the human major histocompatibility complex (MHC) and its application for DNA methylation analysis.

BACKGROUND: The major histocompatibility complex (MHC) is essential for human immunity and is highly associated with common diseases, including cancer. While the genetics of the MHC has been studied intensively for many decades, very little is known about the epigenetics of this most polymorphic and disease-associated region of the genome. METHODS: To facilitate comprehensive epigenetic analyses of this region, we have generated a genomic tiling array of 2 Kb resolution covering the entire 4 Mb MHC region. The array has been designed to be compatible with chromatin immunoprecipitation (ChIP), methylated DNA immunoprecipitation (MeDIP), array comparative genomic hybridization (aCGH) and expression profiling, including of non-coding RNAs. The array comprises 7832 features, consisting of two replicates of both forward and reverse strands of MHC amplicons and appropriate controls. RESULTS: Using MeDIP, we demonstrate the application of the MHC array for DNA methylation profiling and the identification of tissue-specific differentially methylated regions (tDMRs). Based on the analysis of two tissues and two cell types, we identified 90 tDMRs within the MHC and describe their characterisation. CONCLUSION: A tiling array covering the MHC region was developed and validated. Its successful application for DNA methylation profiling indicates that this array represents a useful tool for molecular analyses of the MHC in the context of medical genomics.

The molecular structure of [Sn(P2C2But2)] using gas-phase electron diffraction and DFT calculations.

The molecular structure of 2,4-di-tert-butyl-eta4-1,3-diphosphacyclobutadiene tin has been determined in the gas phase by electron diffraction using both the DYNAMITE and SARACEN methods. The suitability of many different theoretical methods for the calculation of structures of half-sandwich main-group metal complexes has been investigated, and, by comparison of the results with the experimental structures, suggestions have been made as to the most suitable methods for this class of compound.

Transcriptome analysis for the chicken based on 19,626 finished cDNA sequences and 485,337 expressed sequence tags.

We present an analysis of the chicken (Gallus gallus) transcriptome based on the full insert sequences for 19,626 cDNAs, combined with 485,337 EST sequences. The cDNA data set has been functionally annotated and describes a minimum of 11,929 chicken coding genes, including the sequence for 2260 full-length cDNAs together with a collection of noncoding (nc) cDNAs that have been stringently filtered to remove untranslated regions of coding mRNAs. The combined collection of cDNAs and ESTs describe 62,546 clustered transcripts and provide transcriptional evidence for a total of 18,989 chicken genes, including 88% of the annotated Ensembl gene set. Analysis of the ncRNAs reveals a set that is highly conserved in chickens and mammals, including sequences for 14 pri-miRNAs encoding 23 different miRNAs. The data sets described here provide a transcriptome toolkit linked to physical clones for bioinformaticians and experimental biologists who wish to use chicken systems as a low-cost, accessible alternative to mammals for the analysis of vertebrate development, immunology, and cell biology.

Hexaphosphapentaprismane: a new gateway to organophosphorus cage compound chemistry.

Several independent synthetic routes are described leading to the formation of a novel unsaturated tetracyclic phosphorus carbon cage compound tBu4C4P6 (1), which undergoes a light-induced valence isomerization to produce the first hexaphosphapentaprismane cage tBu4C4P6 (2). A second unsaturated isomer tBu4C4P6 (9) of 1 and the bis-[W(CO)5] complex 13 of 1 are stable towards similar isomerization reactions. Another starting material for the synthesis of the hexaphosphapentaprismane cage tBu4C4P6 (2) is the trimeric mercury complex [(tBu4C4P6)Hg]3 (11), which undergoes elimination of mercury to afford the title compound 2. Single-crystal X-ray structural determinations have been carried out on compounds 1, 2, 9, 11, and 13.