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1.
Yoji Hara Panos Ioannou Anthi Drousiotou Goula Stylianidou Violetta Anastasiadou Kunihiko Suzuki 《Human genetics》1994,94(2):136-140
Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community comprises less than 1% of the whole population, and has been culturally and socially isolated. Cultured fibroblasts from a patient from this inbred group showed a -hexosaminidase subunit mRNA of apparently the normal size but of reduced quantity. A mutational analysis of cDNA obtained by polymerase chain reaction amplification of mRNA showed a deletion of A at nt 76 (counted from A of the initiation codon, ATG). The deletion results in a frame shift and a premature termination within 20 amino acids from the N-terminus of the normal mature enzyme protein. The patient was homozygous for the deletion. The 5-end of the gene showed many discrepancies from the previously published sequence. We consider that these differences are probably polymorphisms of little functional significance, because the patient's fibroblasts generate decreased but stable mRNA and because some of these base changes were also found in the genes from control fibroblasts. An extensive evaluation of the prevalence of this mutant allele in this community is being initiated. 相似文献
2.
Rational use of Jatropha curcas L. in food and medicine: from toxicity problems to safe applications
Muhamad Insanu Chryssa Dimaki Richard Wilkins John Brooker Piet van der Linde Oliver Kayser 《Phytochemistry Reviews》2013,12(1):107-119
Jatropha curcas L. has become an important plant for biorefinery and production of biodiesel. From its ethnobotanical use, the plant is known for several activities which are associated with high toxicity. The latest development in engineering technology enables detoxification of native oil and other parts of the plant for new pharmaceutical purposes. Hence a revised look to the rich metabolic spectra of partly structurally rare secondary compound becomes an interesting field of research to be explored. In this review, we discuss recent developments in the technology of detoxification process and give insight about how this ethnomedicinal plant can be applied to new fields of experimental medicine. The review highlights recent data on biological activities and discusses concepts and strategies for turning a poison plant into a valuable crop with high pharmaceutical potential. 相似文献
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George Pentheroudakis Georgia Raptou Vassiliki Kotoula Ralph M. Wirtz Eleni Vrettou Vasilios Karavasilis Georgia Gourgioti Chryssa Gakou Konstantinos N. Syrigos Evangelos Bournakis Grigorios Rallis Ioannis Varthalitis Eleni Galani Georgios Lazaridis George Papaxoinis Dimitrios Pectasides Gerasimos Aravantinos Thomas Makatsoris Konstantine T. Kalogeras George Fountzilas 《PloS one》2015,10(5)
Background
Although host immune response is an emerging prognostic factor for colorectal cancer, there is no consensus on the optimal methodology, surrogate markers or tissue for study.Patients and Methods
Tumour blocks were prospectively collected from 344 patients with stage II/III colorectal cancer (CRC) treated with adjuvant chemotherapy. Whole section lymphocytic infiltration was studied along with mRNA expression of CD3Z, CD8, CD4, CXCL9, CXCL13, IGHM, FOXP3, SNAI2 and ESR1 by qRT-qPCR in tissue microarray (TMA) cores from the centre of tumour, invasive margin and adjacent normal mucosa.Results
Lymphocytic infiltration, deficient MMR (10.9%), KRAS (40.7%) and BRAF (4.9%) mutations or single mRNA gene expression were not prognostic. Tumour ESR1 gene expression (Hazard Ratio [HR] for relapse 2.33, 95% CI 1.35-4.02; HR for death 1.74, 95% CI 1.02-2.97) and absence of necrosis (HR for relapse 1.71, 95% CI 1.05-2.71; HR for death 1.98, 95% CI 1.14-3.43) were adverse prognostic features. We used CD3Z and CD8 expression in order to devise the mRNA-based Immune Score (mIS) and proceeded to partitioning analysis in 267 patients, with age, stage, tumour site (Right vs Left CRC), KRAS mutation and tumour mIS as input factors. Only in patients with stage III right-sided colon cancer, a low immune response was associated with inferior disease-free survival (mIS-low, HR for relapse 2.28, 95% CI 1.05-8.02). No prognostic significance was seen for tumour mIS in any other stage or site of CRC, or for a similar mIS score derived from adjacent normal mucosa. Independent adverse prognostic significance was retained in multivariable analysis for absence of necrosis, tumour ESR1 expression in all patients and low tumour mIS in stage III right-sided CRC.Conclusions
In localised CRC, mRNA-based CD3Z/CD8 profiling of tumour immune response may have stage, site and tissue-specific prognostic significance, along with ESR1 expression.Trial Registration
ANZCTR.org.au ACTRN12610000509066 相似文献5.
Chryssa Anastasiadou Christos Gkenas Ifigenia Kagalou Ioannis D. Leonardos 《Biologia》2014,69(7):895-904
In order to have a comprehensive evaluation and classification of the natural biota of Lake Pamvotis, the present study aims at investigating shrimps’ bionomic traits. Information on shrimps’ habitat preferences, abundances, and syntopic species in relation to the physicochemical profile of the lake’s water are investigated for the first time. The study was carried out on a bi-monthly base, at six littoral sites of the lake. Samples’ study from different habitats and seasons revealed that the freshwater shrimp Atyaephyra thyamisensis was the most abundant species, accounting for 44.76% of the total taxa catch, while the grass shrimp Palaemonetes antennarius was less abundant (7.54%). Syntopic fish species in the littoral zone of Lake Pamvotis such as Economidichthys pygmaeus, Gambusia holbrooki, Knipowitschia caucasica and Rutillus panosi showed interannual differences with abundances of 24.12%, 19.13%, 4.26% and 0.20%, respectively. Correspondence analysis revealed clear patterns between species and stations. A. thyamisensis was predominant in shallow, well oxygenated water bodies rich with aquatic vegetation, but it was absent from deeper habitats. P. antennarius was found mainly in lentic water bodies, rocky substratum and deeper habitats. Taking into account the high ecological importance of the freshwater shrimps in ecosystems’ energy flow, ecological and biological data of lake’s shrimps are discussed and presented thoroughly. Threats and conservation measures for both shrimp species are debated also in detail. 相似文献
6.
Anagnostopoulos AK Dimas KS Papathanassiou C Braoudaki M Anastasiadou E Vougas K Karamolegou K Kontos H Prodromou N Tzortzatou-Stathopoulou F Tsangaris GT 《Journal of proteome research》2011,10(5):2555-2565
Childhood pilocytic astrocytoma is the most frequent brain tumor affecting children. Proteomics analysis is currently considered a powerful tool for global evaluation of protein expression and has been widely applied in the field of cancer research. In the present study, a series of proteomics, genomics, and bioinformatics approaches were employed to identify, classify and characterize the proteome content of low-grade brain tumors as it appears in early childhood. Through bioinformatics database construction, protein profiles generated from pathological tissue samples were compared against profiles of normal brain tissues. Additionally, experiments of comparative genomic hybridization arrays were employed to monitor for genetic aberrations and sustain the interpretation and evaluation of the proteomic data. The current study confirms the dominance of MAPK pathway for the childhood pilocytic astrocytoma occurrence and novel findings regarding the ERK-2 expression are reported. 相似文献
7.
Krikorian D Panou-Pomonis E Voitharou C Sakarellos C Sakarellos-Daitsiotis M 《Bioconjugate chemistry》2005,16(4):812-819
A multifunctional carrier combining B/T cell epitopes (i), a built-in vaccine adjuvant (ii), and a universal T cell epitope (iii) for the construction of potent and specific immunogenic conjugates is presented. The IL-1beta(163-171) fragment known to reproduce the immunostimulatory and adjuvant effects of the whole IL-1beta without possessing any of the pro-inflammatory properties of IL-1beta was covalently anchored to the N-terminus of the Sequential Oligopeptide Carrier, SOC(n), formed by the repeating tripeptide unit Lys-Aib-Gly. A promiscuous T cell epitope derived from the tetanus toxin, TT(593-599), was also positioned in the carboxy terminus of SOC(n) as a universal immunogen to provide broad immunogenicity. Selected B/T cell epitopes from the Sm and La/SSB autoantigens, against which is directed the humoral autoimmunity in patients with systemic lupus erythematosus and Sj?gren's Syndrome, respectively, were coupled to the Lys-N(epsilon)H2 groups of the carrier, and the formulated constructs were administered in animals following the conventional immunization protocol of complete/incomplete Freund's adjuvant. The induced immune responses were compared with that produced when the Sm- and La/SSB-reconstituted immunogenic conjugates were injected alone. High titers of specific antibodies recognizing the priming construct, as well as the cognate autoantigen, were obtained when administered alone without the assistance of Freund's adjuvant. It is concluded that our approach provides the conceptual and experimental framework for the development of multifunctional immunogenic conjugates eliciting enhanced, specific, and prolonged humoral response for usage as human vaccine candidates. 相似文献
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Georgiou T Stylianidou G Anastasiadou V Caciotti A Campos Y Zammarchi E Morrone A D'azzo A Drousiotou A 《Genetic testing》2005,9(2):126-132
GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to death before the age of 4. The GLB1 gene gives rise to two alternatively spliced mRNAs that encode the beta-galactosidase and the elastin binding protein (EBP). The diagnosis of two patients with the infantile form of GM1 gangliosidosis and 11 carriers in a small mountainous village in Cyprus prompted us to carry out a study in order to establish the frequency of carriers in the village and identify the mutations involved. Carrier detection was initially based on the measurement of beta-galactosidase activity in leucocytes. Among 85 random samples from the village, 10 were classified as carriers. Sequencing of the GLB1 gene in a Cypriot patient identified the missense mutation c.1445G>A (p.Arg482His) in the homozygous state. Seven of the 10 carriers identified using the enzyme assay were found to carry the same mutation by NspI restriction enzyme analysis. The three individuals who were negative for the c.1445G>A had borderline enzyme results and were probably wrongly classified as carriers. The frequency of GM1 gangliosidosis carriers in this village is approximately 8% (1:12). Western blot analysis showed a marked decrease of the 64-kDa mature form of the enzyme protein and a similar reduction of the 67-kDa EBP. Our results indicate that the c.1445G>A mutation, which appears to be responsible for all GM1 gangliosidosis alleles in this Cypriot village, affects protein conformation. 相似文献
9.
Neutrophil CD64 expression and serum IL-8: sensitive early markers of severity and outcome in sepsis
Livaditi O Kotanidou A Psarra A Dimopoulou I Sotiropoulou C Augustatou K Papasteriades C Armaganidis A Roussos C Orfanos SE Douzinas EE 《Cytokine》2006,36(5-6):283-290
The aim of the present study was to investigate which biomarker/s reliably assess severity and mortality early in the sepsis process. In 47 critically-ill patients within the 24h of septic onset, Interleukins (IL)-8, -1beta, -6, -10, and -12p70, tumor necrosis factor-alpha (TNF-alpha), procalcitonin (PCT) and C-reactive protein (CRP) were measured in serum. Additionally, CD64 expression was measured in neutrophils. In early sepsis, neutrophil CD64 expression and IL-8 levels are the only biomarkers that increased with sepsis severity, differentiating disease stages: sepsis, severe sepsis and septic shock (p<0.001). The biomarkers that best evaluate the severity of sepsis (via APACHE II) were CD64, IL-8 and IL-6 (p<0.01), and the severity of organ failure (via SOFA) were CD64 and IL-8 (p<0.01). CD64 expression and IL-8 levels were associated with mortality within 28-days (OR=1.3, p=0.01 for CD64 and OR=1.26, p=0.024 for IL-8 by logistic regression analysis) and ROC curve analysis showed high sensitivity and specificity for predicting sepsis stages and the 28 day mortality. We conclude that there is an early increase of neutrophil CD64 expression and IL-8 levels during sepsis. Based on this single measurement it is possible to reliably assess the stage, detect the severity and predict the 28-day mortality of sepsis. 相似文献
10.
Elisa Alonso-Perez Marian Suarez-Gestal Manuel Calaza Gian Domenico Sebastiani Rudolf Pullmann Chryssa Papasteriades Attila Kovacs Fotini N Skopouli Marc Bijl Ana Suarez Maurizio Marchini Sergio Migliaresi Patricia Carreira Josep Ordi-Ros Torsten Witte Sarka Ruzickova Maria Jose Santos Nadia Barizzone Francisco J Blanco Bernard R Lauwerys Juan J Gomez-Reino Antonio Gonzalez 《Arthritis research & therapy》2012,14(2):1-13