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711.
Rosalia Maglietta Angela Distaso Ada Piepoli Orazio Palumbo Massimo Carella Annarita D’Addabbo Sayan Mukherjee Nicola Ancona 《Journal of biomedical informatics》2010,43(3):397-406
One of the major problems in genomics and medicine is the identification of gene networks and pathways deregulated in complex and polygenic diseases, like cancer. In this paper, we address the problem of assessing the variability of results of pathways analysis identified in different and independent genome wide expression studies, in which the same phenotypic conditions are assayed. To this end, we assessed the deregulation of 1891 curated gene sets in four independent gene expression data sets of subjects affected by colorectal cancer (CRC). In this comparison we used two well-founded statistical models for evaluating deregulation of gene networks. We found that the results of pathway analysis in expression studies are highly reproducible. Our study revealed 53 pathways identified by the two methods in all the four data sets analyzed with high statistical significance and strong biological relevance with the pathology examined. This set of pathways associated to single markers as well as to whole biological processes altered constitutes a signature of the disease which sheds light on the genetics bases of CRC. 相似文献
712.
713.
Di Girolamo S Ottaviani F Floris R Bruno E Napolitano B Schillaci O 《The Journal of laryngology and otology》2005,119(5):405-408
Chordomas are rare neoplasms originating along the neuraxis. Although they do not usually show cytological atypia, metastases have been reported in 30 per cent of cases. Survival rates in cases of skull base locations are low, and local recurrence is common after local excision. Radiation therapy is used in post-operative treatment and proton radiation therapy as the primary treatment. In the present paper we present the case of a 50-year-old Caucasian man affected by chordoma of the clivus, with liver and chest metastases, relapsed after several surgical local excisions, to discuss improvements in therapeutic and imaging techniques. Indium111 (In111) pentetreotide single photon emission computed tomography (SPECT) was employed to assess the presence of somatostatin receptors and to treat the tumour with radiolabelled Y90-DOTA-lanreotide. Imaging, performed 2 months afterwards, showed stable disease in the lungs but a local progression in the metastases, in comparison with pre-treatment uptake. These data suggest the usefulness of radiolabelled somatostatin analogues in the diagnosis and therapy of chordomas. 相似文献
714.
Oliveira PR Bernardi LS Strusi OL Mercuri S Segatto Silva MA Colombo P Sonvico F 《International journal of pharmaceutics》2011,405(1-2):90-96
The aim of this research was to design and study norfloxacin (NFX) release in floating conditions from compressed hydrophilic matrices of hydroxypropylmethylcellulose (HPMC) or poly(ethylene oxide) (PEO). Module assembling technology for drug delivery system manufacturing was used. Two differently cylindrical base curved matrix/modules, identified as female and male, were assembled in void configuration by friction interlocking their concave bases obtaining a floating release system. Drug release and floatation behavior of this assembly was investigated. Due to the higher surface area exposed to the release medium, faster release was observed for individual modules compared to their assembled configuration, independently on the polymer used and concentration. The release curves analyzed using the Korsmeyer exponential equation and Peppas & Sahlin binomial equation showed that the drug release was controlled both by drug diffusion and polymer relaxation or erosion mechanisms. However, convective transport was predominant with PEO and at low content of polymers. NFX release from PEO polymeric matrix was more erosion dependent than HPMC. The assembled systems were able to float in vitro for up to 240min, indicating that this drug delivery system of norfloxacin could provide gastro-retentive site-specific release for increasing norfloxacin bioavailability. 相似文献
715.
Pietro Mattioli MD Beatrice Orso PsyD Claudio Liguori MD PhD Francesco Famà BSc Laura Giorgetti BSc Andrea Donniaquio MD Federico Massa MD Andrea Giberti MD David Vállez García PhD Sanne K. Meles MD PhD Klaus L. Leenders MD PhD Fabio Placidi MD PhD Matteo Spanetta Med Tech Agostino Chiaravalloti MD PhD Riccardo Camedda MD Orazio Schillaci MD Francesca Izzi MD Nicola B. Mercuri MD Matteo Pardini MD PhD Matteo Bauckneht MD PhD Silvia Morbelli MD PhD Flavio Nobili MD Dario Arnaldi MD PhD 《Movement disorders》2023,38(1):57-67
Background
Idiopathic rapid eye movement sleep behavior disorder (iRBD) represents the prodromal stage of α-synucleinopathies. Reliable biomarkers are needed to predict phenoconversion.Objective
The aim was to derive and validate a brain glucose metabolism pattern related to phenoconversion in iRBD (iRBDconvRP) using spatial covariance analysis (Scaled Subprofile Model and Principal Component Analysis [SSM-PCA]).Methods
Seventy-six consecutive iRBD patients (70 ± 6 years, 15 women) were enrolled in two centers and prospectively evaluated to assess phenoconversion (30 converters, 73 ± 6 years, 14 Parkinson's disease and 16 dementia with Lewy bodies, follow-up time: 21 ± 14 months; 46 nonconverters, 69 ± 6 years, follow-up time: 33 ± 19 months). All patients underwent [18F]FDG-PET (18F-fluorodeoxyglucose positron emitting tomography) to investigate brain glucose metabolism at baseline. SSM-PCA was applied to obtain the iRBDconvRP; nonconverter patients were considered as the reference group. Survival analysis and Cox regression were applied to explore prediction power.Results
First, we derived and validated two distinct center-specific iRBDconvRP that were comparable and significantly able to predict phenoconversion. Then, SSM-PCA was applied to the whole set, identifying the iRBDconvRP. The iRBDconvRP included positive voxel weights in cerebellum; brainstem; anterior cingulate cortex; lentiform nucleus; and middle, mesial temporal, and postcentral areas. Negative voxel weights were found in posterior cingulate, precuneus, middle frontal gyrus, and parietal areas. Receiver operating characteristic analysis showed an area under the curve of 0.85 (sensitivity: 87%, specificity: 72%), discriminating converters from nonconverters. The iRBDconvRP significantly predicted phenoconversion (hazard ratio: 7.42, 95% confidence interval: 2.6–21.4).Conclusions
We derived and validated an iRBDconvRP to efficiently discriminate converter from nonconverter iRBD patients. [18F]FDG-PET pattern analysis has potential as a phenoconversion biomarker in iRBD patients. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. 相似文献716.
Matteo Giaccherini Riccardo Farinella Manuel Gentiluomo Beatrice Mohelnikova-Duchonova Emanuele Federico Kauffmann Matteo Palmeri Faik Uzunoglu Pavel Soucek Dalius Petrauskas Giulia Martina Cavestro Romanas Zykus Silvia Carrara Raffaele Pezzilli Marta Puzzono Andrea Szentesi John Neoptolemos Livia Archibugi Orazio Palmieri Anna Caterina Milanetto Gabriele Capurso Casper H. J. van Eijck Hannah Stocker Rita T. Lawlor Pavel Vodicka Martin Lovecek Jakob R. Izbicki Francesco Perri Rita Kupcinskaite-Noreikiene Mara Götz Juozas Kupcinskas Tamás Hussein Péter Hegyi Olivier R. Busch Thilo Hackert Andrea Mambrini Hermann Brenner Maurizio Lucchesi Daniela Basso Francesca Tavano Ben Schöttker Giuseppe Vanella Stefania Bunduc Ágota Petrányi Stefano Landi Luca Morelli Federico Canzian Daniele Campa 《International journal of cancer. Journal international du cancer》2023,153(2):373-379
Genes carrying high-penetrance germline mutations may also be associated with cancer susceptibility through common low-penetrance genetic variants. To increase the knowledge on genetic pancreatic ductal adenocarcinoma (PDAC) aetiology, the common genetic variability of PDAC familial genes was analysed in our study. We conducted a multiphase study analysing 7745 single nucleotide polymorphisms (SNPs) from 29 genes reported to harbour a high-penetrance PDAC-associated mutation in at least one published study. To assess the effect of the SNPs on PDAC risk, a total of 14 666 PDAC cases and 221 897 controls across five different studies were analysed. The T allele of the rs1412832 polymorphism, that is situated in the CDKN2B-AS1/ANRIL, showed a genome-wide significant association with increased risk of developing PDAC (OR = 1.11, 95% CI = 1.07-1.15, P = 5.25 × 10−9). CDKN2B-AS1/ANRIL is a long noncoding RNA, situated in 9p21.3, and regulates many target genes, among which CDKN2A (p16) that frequently shows deleterious somatic and germline mutations and deregulation in PDAC. Our results strongly support the role of the genetic variability of the 9p21.3 region in PDAC aetiopathogenesis and highlight the importance of secondary analysis as a tool for discovering new risk loci in complex human diseases. 相似文献