Prognosis and Interplay of Cognitive Impairment and Sarcopenia in Older Adults Discharged from Acute Care Hospitals

Sarcopenia and cognitive impairment are associated with an increased risk of negative outcomes, but their prognostic interplay has not been investigated so far. We aimed to investigate the prognostic interaction of sarcopenia and cognitive impairment concerning 12-month mortality among older patients discharged from acute care wards in Italy. Our series consisted of 624 patients (age = 80.1 ± 7.0 years, 56.1% women) enrolled in a prospective observational study. Sarcopenia was defined following the European Working Group on Sarcopenia in Older People (EWGSOP) criteria. Cognitive impairment was defined as age- and education-adjusted Mini-Mental State Examination (MMSE) score < 24 or recorded diagnosis of dementia. The study outcome was all-cause mortality during 12-month follow-up. The combination of sarcopenia and cognitive ability was tested against participants with intact cognitive ability and without sarcopenia. Overall, 159 patients (25.5%) were identified as having sarcopenia, and 323 (51.8%) were cognitively impaired. During the follow-up, 79 patients (12.7%) died. After adjusting for potential confounders, the combination of sarcopenia and cognitive impairment has been found associated with increased mortality (HR = 2.12, 95% CI = 1.05-4.13). Such association was also confirmed after excluding patients with dementia (HR = 2.13, 95% CI = 1.06-4.17), underweight (HR = 2.18, 95% CI = 1.03-3.91), high comorbidity burden (HR = 2.63, 95% CI = 1.09-6.32), and severe disability (HR = 2.88, 95% CI = 1.10-5.73). The co-occurrence of sarcopenia and cognitive impairment may predict 1-year mortality in older patients discharged from acute care hospitals

Proceedings of the Fifth Italian Conference on Computational Linguistics CLiC-it 2018

On behalf of the Program Committee, a very warm welcome to the Fifth Italian Conference on Computational Linguistics (CLiC-­‐it 2018). This edition of the conference is held in Torino. The conference is locally organised by the University of Torino and hosted into its prestigious main lecture hall “Cavallerizza Reale”. The CLiC-­‐it conference series is an initiative of the Italian Association for Computational Linguistics (AILC) which, after five years of activity, has clearly established itself as the premier national forum for research and development in the fields of Computational Linguistics and Natural Language Processing, where leading researchers and practitioners from academia and industry meet to share their research results, experiences, and challenges

DNA methylation patterns in aging and aging phenotypes

Dottorato di Ricerca in Scienze della Vita, Ciclo XXXIDuring my PhD program, my work has been addressed to the study of the role of epigenetic modifications in aging and in age-related phenotypes. Epigenetics is the study of changes in gene expression that do not involve changes to the underlying DNA sequence. These changes affect cellular phenotypic expression by regulating relative gene expression levels. They are a common and natural process in living cells and are tightly controlled by pre-programmed mechanisms. Epigenetics modifications can be influenced by multiple factors including environmental conditions, lifestyle, nutrition, use of drugs, disease state and age. Patterns of DNA methylation, the best known and characterized epigenetic modification, change during aging; indeed, with increasing aging, genome-wide methylation levels decrease, meanwhile genomic regions, including CpG islands, become more methylated. Analyses of the above patterns provided new perspectives for establishing powerful biomarkers of human aging which have the potential to generate accurate prediction not only of the chronological but also of the biological age. The first section of the PhD thesis consists in a comprehensive overview of the general features of DNA methylation and its implication in age and age-related diseases. The topic is addressed referring to the methylation patterns established not only at nuclear but also at mitochondrial genome level. In addition, the influence of a number of environmental factors on the above patterns is also discussed. In the second section, an original research work, carried out in order to identify novel biomarkers of aging, is reported. In this work, methylation status of nuclear genes involved in mitochondrial fusion, fission, biogenesis and mitophagy, fundamental components of the mitochondrial quality control process, was investigated in subjects of different ages of the Calabrian population. The methylation levels of RAB32 and RHOT2 genes were significantly associated with age and, in particular, those of RAB32 even with the risk of developing disability. The study, therefore, led to the identification of two new biomarkers for both chronological and biological aging. In the Appendix, research works already published are reported. The first one concerns the correlation between DNA methylation and nutrition during lifetime. Global DNA methylation profiles were examined in different tissues of rats of different ages, fed with a standard and hypocaloric diet, and their association with aging and nutrition was evaluated. The results obtained have shown that tissue-specific variations in methylation levels occur during aging and that nutrition influences the state of global DNA methylation during the course of life. The hypocaloric diet seems to influence more strongly the epigenetic status of the offspring when administered during the maternal pre-gestational period compared to the gestation and lactation period. Therefore, changes in the global DNA methylation status represent an epigenetic mechanism by which age and nutrition intersect each oth and, in turn, influence the plasticity of aging. The second one is a review on the current advances in mitochondrial epigenetics studies and the increasing indication of mtDNA methylation status as an attractive biomarker for peculiar physiological and pathological phenotypes. It comes from the increasing evidence on the fact that, similarly to nuclear DNA, also mtDNA is subject to methylation and hydroxymethylation and these modifications are influenced by multiple environmental factors.Università della Calabri

7p22.2 Microduplication: A Pathogenic CNV?

Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearrangement allowed for the identification of the 7p22.1 sub-band causative of this phenotype and to recognize the corresponding 7p22.1 microduplication syndrome. We report two unrelated patients that carry a microduplication involving the 7.22.2 sub-band. Unlike 7p22.1 microduplication carriers, both patients only show a neurodevelopmental disorder without malformations. We better characterized the clinical pictures of these two patients providing insight into the clinical phenotype associated with the microduplication of the 7p22.2 sub-band and support for a possible role of this sub-band in the 7p22 microduplication syndrome

Testicular metastasis of signet ring cell tumour of unknown origin: Diagnostic features of a tricky case

We introduce the diagnostic complexity of a testicular metastasis by signet ring cell adenocarcinoma of unknown origin. Testicular metastases are a rare event but, particular after 50 years of age, a testicular mass could represent a metastasis. © 2011 Blackwell Verlag GmbH

Gli archivi e la montagna : scritti in onore di Paolo De Gasperis

Con il volume Gli archivi e la montagna. Scritti in onore di Paolo De Gasperis, la collana “Documentalia” del Consiglio Nazionale delle Ricerche intende proporre un itinerario di studio inedito e “aperto”, con l’obiettivo di realizzare uno strumento utile alla conoscenza e alla divulgazione del patrimonio archivistico e documentario custodito dalle maggiori istituzioni italiane interessate alla montagna, con approfondimenti sui loro progetti di ricerca e sulla cultura della montagna più in generale. Archivi e documenti prodotti dall’uomo nel suo rapporto con la montagna, vissuta, percorsa e salita con intenti scientifici, culturali, sportivi, esistenziali: fonti utili a indagare con metodo scientifico tali legami e a impostare ulteriori approfondimenti e itinerari di ricerca