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5. Prioritization of putatively detrimental variants in euploid miscarriages

Author

Buonaiuto, Silvia, Biase, Immacolata Di, Aleotti, Valentina, Ravaei, Amin, Marino, Adriano De, Damaggio, Gianluca, Chierici, Marco, Pulijala, Madhuri, D’Ambrosio, Palmira, Esposito, Gabriella, Ayub, Qasim, Furlanello, Cesare, Greco, Pantaleo, Capalbo, Antonio, Rubini, Michele, Biase, Sebastiano Di, and Colonna, Vincenza

Published
2022
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6. Risorse eterogenee distribuite per la didattica e la ricerca: quali livelli di integrazione?

Author

Innocenti, Perla and Rubini, Michele

Subjects
JG. Digitization.
Abstract

ADA (Athenaeum’s Digital Archives) project launched at Politecnico di Milano intended to give an innovative tool for IR, joining different databases and archives in one search tool. The project is here explained in his conceptual, technical and practical implications with particular attention to critical aspects.

Published
2004

7. Protocol for a living evidence synthesis on variants of concern and COVID-19 vaccine effectiveness

Author

Shaver, Nicole, primary, Katz, Melanie, additional, Darko Asamoah, Gideon, additional, Linkins, Lori-Ann, additional, Abdelkader, Wael, additional, Beck, Andrew, additional, Bennett, Alexandria, additional, Hughes, Sarah E, additional, Smith, Maureen, additional, Begin, Mpho, additional, Coyle, Doug, additional, Piggott, Thomas, additional, Kagina, Benjamin M., additional, Welch, Vivian, additional, Colijn, Caroline, additional, Earn, David J.D., additional, El Emam, Khaled, additional, Heffernan, Jane, additional, O'Brien, Sheila F., additional, Wilson, Kumanan, additional, Collins, Erin, additional, Navarro, Tamara, additional, Beyene, Joseph, additional, Boutron, Isabelle, additional, Bowdish, Dawn, additional, Cooper, Curtis, additional, Costa, Andrew, additional, Curran, Janet, additional, Griffith, Lauren, additional, Hsu, Amy, additional, Grimshaw, Jeremy, additional, Langlois, Marc-André, additional, Li, Xiaoguang, additional, Pham-Huy, Anne, additional, Raina, Parminder, additional, Rubini, Michele, additional, Thabane, Lehana, additional, Wang, Hui, additional, Xu, Lan, additional, Brouwers, Melissa, additional, Horsley, Tanya, additional, Lavis, John, additional, Iorio, Alfonso, additional, and Little, Julian, additional

Published
2023
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13. Epigenetic Studies for Evaluation of NPS Toxicity: Focus on Synthetic Cannabinoids and Cathinones

Author

Mazdai, Leila, primary, Fabbri, Matteo, additional, Tirri, Micaela, additional, Corli, Giorgia, additional, Arfè, Raffaella, additional, Marchetti, Beatrice, additional, Bilel, Sabrine, additional, Bergamin, Eva, additional, Gaudio, Rosa Maria, additional, Rubini, Michele, additional, De-Giorgio, Fabio, additional, and Marti, Matteo, additional

Published
2022
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14. FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish

Author

Ghassibe-Sabbagh, Michella, Desmyter, Laurence, Langenberg, Tobias, Claes, Filip, Boute, Odile, Bayet, Bénédicte, Pellerin, Philippe, Hermans, Karlien, Backx, Liesbeth, Mansilla, Maria Adela, Imoehl, Sandra, Nowak, Stefanie, Ludwig, Kerstin U., Baluardo, Carlotta, Ferrian, Melissa, Mossey, Peter A., Noethen, Markus, Dewerchin, Mieke, François, Geneviève, Revencu, Nicole, Vanwijck, Romain, Hecht, Jacqueline, Mangold, Elisabeth, Murray, Jeffrey, Rubini, Michele, Vermeesch, Joris R., Poirel, Hélène A., Carmeliet, Peter, and Vikkula, Miikka

Published
2011
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19. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Author

Ludwig, Kerstin U, Mangold, Elisabeth, Herms, Stefan, Nowak, Stefanie, Reutter, Heiko, Paul, Anna, Becker, Jessica, Herberz, Ruth, AlChawa, Taofik, Nasser, Entessar, Böhmer, Anne C, Mattheisen, Manuel, Alblas, Margrieta A, Barth, Sandra, Kluck, Nadine, Lauster, Carola, Braumann, Bert, Reich, Rudolf H, Hemprich, Alexander, Pötzsch, Simone, Blaumeiser, Bettina, Daratsianos, Nikolaos, Kreusch, Thomas, Murray, Jeffrey C, Marazita, Mary L, Ruczinski, Ingo, Scott, Alan F, Beaty, Terri H, Kramer, Franz-Josef, Wienker, Thomas F, Steegers-Theunissen, Regine P, Rubini, Michele, Mossey, Peter A, Hoffmann, Per, Lange, Christoph, Cichon, Sven, Propping, Peter, Knapp, Michael, and Nöthen, Markus M

Published
2012
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24. Prioritization of putatively detrimental variants in euploid miscarriages

Author

Buonaiuto, Silvia, primary, Di Biase, Immacolata, additional, Aleotti, Valentina, additional, Ravaei, Amin, additional, Marino, Adriano De, additional, Damaggio, Gianluca, additional, Chierici, Marco, additional, Pulijala, Madhuri, additional, D’Ambrosio, Palmira, additional, Esposito, Gabriella, additional, Ayub, Qasim, additional, Furlanello, Cesare, additional, Greco, Pantaleo, additional, Capalbo, Antonio, additional, Rubini, Michele, additional, Biase, Sebastiano Di, additional, and Colonna, Vincenza, additional

Published
2021
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30. P1735 Two-hour algorithm for early diagnosis of acute myocardial infarction using a novel high-sensitivity cardiac troponin I assay

Author

Nestelberger, Thomas, Boeddinghaus, Jasper, Greenslade, Jaimi, Cullen, Louise, Parsonage, Will, Troester, Valentina, Koechlin, Luca, Rubini, Michele, Badertscher, Patrick, Puelacher, Christian, Twerenbold, Raphael, Mueller, Christian, Nestelberger, Thomas, Boeddinghaus, Jasper, Greenslade, Jaimi, Cullen, Louise, Parsonage, Will, Troester, Valentina, Koechlin, Luca, Rubini, Michele, Badertscher, Patrick, Puelacher, Christian, Twerenbold, Raphael, and Mueller, Christian

Abstract

Background We aimed to derive and externally validate a 0/2h-algorithm using the novel high-sensitivity cardiac troponin I (hs-cTnI-Access) assay. Methods We enrolled patients presenting to the emergency department with symptoms suggestive of acute myocardial infarction (AMI) in two prospective chest pain trials. Two independent cardiologists adjudicated the final diagnosis including all available medical information including cardiac imaging. Hs-cTnI concentrations were measured at presentation and after 2h. Primary diagnostic endpoint was the derivation and validation of an hs-cTnI-Access specific 0/2h-algorithm. Primary prognostic endpoint was overall survival of patients after 30- and 720-days of follow-up. Results AMI was the adjudicated final diagnosis in 164/1131 (14.5%) patients in the derivation and in 88/1280 (6.9%) patients in the validation cohort. Median hs-cTnI Access concentrations at presentation were significantly higher in patients with AMI as compared to patients with non-AMI in both cohorts (104 ng/L versus 3.4 ng/L and 29 ng/L vs. 2.3 ng/L, p-value both <0.001) Applying the derived hs-cTnI-Access 0/2h-algorithm (Figure 1A) to the validation cohort (Figure 1B), 77.9% of patients were ruled-out (sensitivity 97.7% [95% CI, 92–99.7], negative predictive value [NPV] 99.8% [95% CI, 99.3–100]), and 5.8% of patients were ruled-in (specificity 98.6% [95% CI, 97.7–99.2], positive predictive value [PPV] 77% [95% CI, 65.8–86]). Among 1617 patients ruled-out for AMI in both cohorts together, 3 (0.2%) patients with AMI have been missed, of whom 2 patients had type 2 myocardial infarction (both with tachyarrhythmia). Patients ruled-out by the 0/2h-algorithm had a survival rate of 98.4% and 99.9% after two years or one year of follow up in both cohorts, respectively. Conclusions Diagnostic performance of the hs-cTnI Access 0/2h-algorithm for triage of AMI is excellent with high safety for rule-out and high accu

Published
2019

33. Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

Author

Ishorst, Nina, primary, Francheschelli, Paola, additional, Böhmer, Anne C., additional, Khan, Mohammad Faisal J., additional, Heilmann-Heimbach, Stefanie, additional, Fricker, Nadine, additional, Little, Julian, additional, Steegers-Theunissen, Regine P.M., additional, Peterlin, Borut, additional, Nowak, Stefanie, additional, Martini, Markus, additional, Kruse, Teresa, additional, Dunsche, Anton, additional, Kreusch, Thomas, additional, Gölz, Lina, additional, Aldhorae, Khalid, additional, Halboub, Esam, additional, Reutter, Heiko, additional, Mossey, Peter, additional, Nöthen, Markus M., additional, Rubini, Michele, additional, Ludwig, Kerstin U., additional, Knapp, Michael, additional, and Mangold, Elisabeth, additional

Published
2018
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34. Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

Author

Ishorst, Nina, Francheschelli, Paola, Boehmer, Anne C., Khan, Mohammad Faisal J., Heilmann-Heimbach, Stefanie, Fricker, Nadine, Little, Julian, Steegers-Theunissen, Regine P. M., Peterlin, Borut, Nowak, Stefanie, Martini, Markus, Kruse, Teresa, Dunsche, Anton, Kreusch, Thomas, Goelz, Lina, Aldhorae, Khalid, Halboub, Esam, Reutter, Heiko, Mossey, Peter, Noethen, Markus M., Rubini, Michele, Ludwig, Kerstin U., Knapp, Michael, Mangold, Elisabeth, Ishorst, Nina, Francheschelli, Paola, Boehmer, Anne C., Khan, Mohammad Faisal J., Heilmann-Heimbach, Stefanie, Fricker, Nadine, Little, Julian, Steegers-Theunissen, Regine P. M., Peterlin, Borut, Nowak, Stefanie, Martini, Markus, Kruse, Teresa, Dunsche, Anton, Kreusch, Thomas, Goelz, Lina, Aldhorae, Khalid, Halboub, Esam, Reutter, Heiko, Mossey, Peter, Noethen, Markus M., Rubini, Michele, Ludwig, Kerstin U., Knapp, Michael, and Mangold, Elisabeth

Abstract

BackgroundNonsyndromic cleft palate only (nsCPO) is a common and multifactorial form of orofacial clefting. In contrast to successes achieved for the other common form of orofacial clefting, that is, nonsyndromic cleft lip with/without cleft palate (nsCL/P), genome wide association studies (GWAS) of nsCPO have identified only one genome wide significant locus. Aim of the present study was to investigate whether common variants contribute to nsCPO and, if so, to identify novel risk loci. MethodsWe genotyped 33 SNPs at 27 candidate loci from 2 previously published nsCPO GWAS in an independent multiethnic sample. It included: (i) a family-based sample of European ancestry (n=212); and (ii) two case/control samples of Central European (n=94/339) and Arabian ancestry (n=38/231), respectively. A separate association analysis was performed for each genotyped dataset, and meta-analyses were performed. ResultsAfter association analysis and meta-analyses, none of the 33 SNPs showed genome-wide significance. Two variants showed nominally significant association in the imputed GWAS dataset and exhibited a further decrease in p-value in a European and an overall meta-analysis including imputed GWAS data, respectively (rs395572: P-MetaEU=3.16 x 10(-4); rs6809420: P-MetaAll=2.80 x 10(-4)). ConclusionOur findings suggest that there is a limited contribution of common variants to nsCPO. However, the individual effect sizes might be too small for detection of further associations in the present sample sizes. Rare variants may play a more substantial role in nsCPO than in nsCL/P, for which GWAS of smaller sample sizes have identified genome-wide significant loci. Whole-exome/genome sequencing studies of nsCPO are now warranted.

Published
2018

38. Atlante degli Eteromorfismi Cromosomici

Author

Aiello, Vincenzo and Rubini, Michele

Subjects
Economica, Eteromorfismi, Laboratorio, Genetica medica, Socio-culturale, Ambientale, Citogenetica, Test genetici, Cromosomi, Citogenetica, Cromosomi, Eteromorfismi, Genetica medica, Laboratorio, Test genetici
Published
2016

39. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Author

Ludwig, Kerstin U., Ahmed, Syeda Tasnim, Böhmer, Anne C., Sangani, Nasim Bahram, Varghese, Sheryil, Klamt, Johanna, Schuenke, Hannah, Gültepe, Pinar, Hofmann, Andrea, Rubini, Michele, Aldhorae, Khalid Ahmed, Steegers-Theunissen, Regine P., Rojas-Martinez, Augusto, Reiter, Rudolf, Borck, Guntram, Knapp, Michael, Nakatomi, Mitsushiro, Graf, Daniel, Mangold, Elisabeth, Peters, Heiko, and Obstetrics & Gynecology

Subjects
Embryology, lcsh:QH426-470, Genotype, Cleft Lip and Palate, Socio-culturale, Research and Analysis Methods, Genetic Predisposition, White People, Mice, Mathematical and Statistical Techniques, Economica, Medicine and Health Sciences, Congenital Disorders, Morphogenesis, Genetics, Animals, Humans, Genetic Predisposition to Disease, Birth Defects, Statistical Methods, Alleles, Chromosome15, Mouth, Chromosomes, Human, Pair 15, Mammalian Genomics, Palate, Cleft lip, Embryos, Biology and Life Sciences, Brain, Ambientale, GREM1, Genomics, lcsh:Genetics, Meta-analysis, Otorhinolaryngology, Genetic Loci, Animal Genomics, Cleft palate, Physical Sciences, Intercellular Signaling Peptides and Proteins, Genetics, Cleft lip, Cleft palate, Chromosome15, Genome-Wide Association Study, Anatomy, Digestive System, Mathematics, Statistics (Mathematics), Research Article, Developmental Biology
Abstract

Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff, Author Summary Clefts of the lip and palate are common birth defects, and require long-term multidisciplinary management. Their etiology involves genetic factors and environmental influences and/or a combination of both, however, these interactions are poorly defined. Moreover, although clefts of the lip may or may not involve the palate, the determinants predisposing to specific subphenotypes are largely unknown. Here we demonstrate that variations in the non-coding region near the GREM1 gene show a highly significant association with a particular phenotype in which cleft lip and cleft palate co-occur (nsCLP; P = 8.13×10−14). Our data suggest that the risk is even higher for patients who have a cleft lip and a cleft of the soft palate, but not of the hard palate. Interestingly, this subphenotype corresponds to the expression of the mouse Grem1 gene, which is found in the developing lip and soft palate but not in the hard palate. While Grem1-deficient mice display no lip or palate defects, we demonstrate that ectopic Grem1 protein alters palatal shelve morphogenesis. Together, our results identify a region near GREM1 as the second, genome-wide significant risk locus for nsCLP, and suggest that deregulated GREM1 expression during craniofacial development may contribute to this common birth defect.

Published
2016

40. Nuclear IGF-1R predicts chemotherapy and targeted therapy resistance in metastatic colorectal cancer

Author

Codony-Servat, Jordi, primary, Cuatrecasas, Miriam, additional, Asensio, Elena, additional, Montironi, Carla, additional, Martínez-Cardús, Anna, additional, Marín-Aguilera, Mercedes, additional, Horndler, Carlos, additional, Martínez-Balibrea, Eva, additional, Rubini, Michele, additional, Jares, Pedro, additional, Reig, Oscar, additional, Victoria, Iván, additional, Gaba, Lydia, additional, Martín-Richard, Marta, additional, Alonso, Vicente, additional, Escudero, Pilar, additional, Fernández-Martos, Carlos, additional, Feliu, Jaime, additional, Méndez, Jose Carlos, additional, Méndez, Miguel, additional, Gallego, Javier, additional, Salud, Antonieta, additional, Rojo, Federico, additional, Castells, Antoni, additional, Prat, Aleix, additional, Rosell, Rafael, additional, García-Albéniz, Xabier, additional, Camps, Jordi, additional, and Maurel, Joan, additional

Published
2017
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42. Generation and characterization of a transgenic mouse carrying a functional human ?-globin gene with the IVSI-6 thalassemia mutation

Author

Breveglieri, Giulia, Mancini, Irene, Bianchi, Nicoletta, Lampronti, Ilaria, Salvatori, Francesca, Fabbri, Enrica, Zuccato, Cristina, Cosenza, Lucia C., Montagner, Giulia, Borgatti, Monica, Altruda, Fiorella, Fagoonee, Sharmila, Carandina, Gianni, Rubini, Michele, Aiello, Vincenzo, Breda, Laura, Rivella, Stefano, Gambari, Roberto, and Finotti, Alessia

Subjects
Genetically modified mouse, Genetics and Molecular Biology (all), Article Subject, Immunology and Microbiology (all), Transgene, Thalassemia, RNA Splicing, lcsh:Medicine, Mice, Transgenic, beta-Globins, Biology, medicine.disease_cause, Biochemistry, nil, General Biochemistry, Genetics and Molecular Biology, NO, 03 medical and health sciences, Hemoglobins, Mice, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Animals, Humans, Point Mutation, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, General Immunology and Microbiology, Base Sequence, Greece, Point mutation, lcsh:R, beta-Thalassemia, Beta thalassemia, General Medicine, medicine.disease, Molecular biology, Phenotype, Italy, 030220 oncology & carcinogenesis, RNA splicing, Biochemistry, Genetics and Molecular Biology (all), Research Article
Abstract

Mouse models that carry mutations causing thalassemia represent a suitable tool to testin vivonew mutation-specific therapeutic approaches. Transgenic mice carrying theβ-globin IVSI-6 mutation (the most frequent in Middle-Eastern regions and recurrent in Italy and Greece) are, at present, not available. We report the production and characterization of a transgenic mouse line (TG-β-IVSI-6) carrying the IVSI-6 thalassemia point mutation within the humanβ-globin gene. In the TG-β-IVSI-6 mouse (a) the transgenic integration region is located in mouse chromosome 7; (b) the expression of the transgene is tissue specific; (c) as expected, normally spliced humanβ-globin mRNA is produced, giving rise toβ-globin production and formation of a human-mouse tetrameric chimeric hemoglobinαmu-globin2/βhu-globin2and, more importantly, (d) the aberrantβ-globin-IVSI-6 RNAs are present in blood cells. The TG-β-IVSI-6 mouse reproduces the molecular features of IVSI-6β-thalassemia and might be used as anin vivomodel to characterize the effects of antisense oligodeoxynucleotides targeting the cryptic sites responsible for the generation of aberrantly splicedβ-globin RNA sequences, caused by the IVSI-6 mutation. These experiments are expected to be crucial for the development of a personalized therapy forβ-thalassemia.

Published
2015
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43. Phosphorylated-insulin growth factor I receptor (p-IGF1R) and metalloproteinase-3 (MMP3) expression in advanced gastrointestinal stromal tumors (GIST). A GEIS 19 study

Author

Maurel, Joan, primary, López-Pousa, Antonio, additional, Calabuig, Silvia, additional, Bagué, Silvia, additional, del Muro, Xavier Garcia, additional, Sanjuan, Xavier, additional, Rubió-Casadevall, Jordi, additional, Cuatrecasas, Miriam, additional, Martinez-Trufero, Javier, additional, Horndler, Carlos, additional, Fra, Joaquin, additional, Valverde, Claudia, additional, Redondo, Andrés, additional, Poveda, Andrés, additional, Sevilla, Isabel, additional, Lainez, Nuria, additional, Rubini, Michele, additional, García-Albéniz, Xabier, additional, Martín-Broto, Javier, additional, and de Alava, Enrique, additional

Published
2016
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44. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Author

Ludwig, Kerstin U., primary, Ahmed, Syeda Tasnim, additional, Böhmer, Anne C., additional, Sangani, Nasim Bahram, additional, Varghese, Sheryil, additional, Klamt, Johanna, additional, Schuenke, Hannah, additional, Gültepe, Pinar, additional, Hofmann, Andrea, additional, Rubini, Michele, additional, Aldhorae, Khalid Ahmed, additional, Steegers-Theunissen, Regine P., additional, Rojas-Martinez, Augusto, additional, Reiter, Rudolf, additional, Borck, Guntram, additional, Knapp, Michael, additional, Nakatomi, Mitsushiro, additional, Graf, Daniel, additional, Mangold, Elisabeth, additional, and Peters, Heiko, additional

Published
2016
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45. Prospective biomarker validation trial evaluating the prognostic role of the combined expression of phospho-insulin growth factor receptor-1 and matrilysin in KRAS (exon 2) wild-type (WT) metastatic colorectal cancer (mCRC) patients treated with FOLFOX-6 plus panitumumab as first-line therapy [PULSE trial (GEMCAD 09-03)].

Author

Maurel, Juan, primary, Fernandez-Martos, Carlos, additional, Martin-Richard, Marta, additional, Alonso, Vicente, additional, Mendez, Jose Carlos, additional, Salud, Antonia, additional, Pericay, Carles, additional, Aparicio, Jorge, additional, Gallego, Javier, additional, Carmona, Alberto, additional, Casado, Enrique, additional, Manzano, Hermini, additional, Horndler, Carlos, additional, Rubini, Michele, additional, Cuatrecasas, Miriam, additional, Garcia-Albeniz, Xabier, additional, and Feliu, Jaime, additional

Published
2016
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46. Ultrastructural analysis of collagen fibril diameter distribution in cleft lip.

Author

Khan, Mohammad Faisal J., Little, Julian, Nag, Tapas Chandra, Mossey, Peter Anthony, Autelitano, Luca, Meazzini, Maria Costanza, Merajuddin, Ahmed, Singh, Anuraag, and Rubini, Michele

Subjects
CLEFT lip, COLLAGEN, ELECTRON microscopy, GUMS & resins, OXIDES, GLUTARALDEHYDE, MANN Whitney U Test, DIAGNOSIS
Abstract

Objective: A preliminary study to determine collagen fibril diameter (CF‐ED) distribution on medial and lateral sides of cleft lip (CL). Material and Methods: Tissue samples from medial and lateral sides of CL were fixed in 2.5% glutaraldehyde and 1% osmium tetroxide and embedded in Araldite CY212 resin for transmission electron microscopy. The analysis of CF‐ED was performed using the ImageJ program. To characterize the packaging of collagen fibrils (CFs) in the two tissues, we estimated the collagen number density (CF‐ND) and fibril‐area‐fraction (FAF). Differences in measurements across the two sides were calculated using Wilcoxon signed‐rank test. Results: The CF‐ED was statistically significantly (p < 0.001) smaller on the medial side (45.69 ± 7.89 nm) than on the lateral side (54.18 ± 7.62 nm). The medial side had a higher CF‐ND and a higher percentage of FAF than the lateral side. Conclusion: Our finding of a smaller CF‐ED and higher CF‐ND and FAF for the medial side suggests possible differences in size and distribution of CFs between medial and lateral sides of CL. This finding provides knowledge toward underlying tissue biomechanics that may help reconstruction of perioral tissue scaffolds, ultimately resulting in better treatment of patients with oral clefts. [ABSTRACT FROM AUTHOR]

Published
2019
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48. Mechanism of Inflammation in Age-Related Macular Degeneration: An Up-to-Date on Genetic Landmarks

Author

Parmeggiani, Francesco, Sorrentino, Francesco S., Romano, Mario R., Costagliola, Ciro, Semeraro, Francesco, Incorvaia, Carlo, D'Angelo, Sergio, Perri, Paolo, De Nadai, Katia, Bonomo Roversi, Elia, Franceschelli, Paola, Sebastiani, Adolfo, and Rubini, Michele

Subjects
genetic structures, Article Subject, sense organs, eye diseases
Abstract

Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment among people over 50 years of age, accounting for up to 50% of all cases of legal blindness in Western countries. Although the aging represents the main determinant of AMD, it must be considered a multifaceted disease caused by interactions among environmental risk factors and genetic backgrounds. Mounting evidence and/or arguments document the crucial role of inflammation and immune-mediated processes in the pathogenesis of AMD. Proinflammatory effects secondary to chronic inflammation (e.g., alternative complement activation) and heterogeneous types of oxidative stress (e.g., impaired cholesterol homeostasis) can result in degenerative damages at the level of crucial macular structures, that is photoreceptors, retinal pigment epithelium, and Bruch’s membrane. In the most recent years, the association of AMD with genes, directly or indirectly, involved in immunoinflammatory pathways is increasingly becoming an essential core for AMD knowledge. Starting from the key basic-research notions detectable at the root of AMD pathogenesis, the present up-to-date paper reviews the best-known and/or the most attractive genetic findings linked to the mechanisms of inflammation of this complex disease.

Published
2013
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50. A new method of detecting changes in corneal health in response to toxic insults

Author

Khan, Faisal, Tapas, C. Nag, Cannayen, Igathinathane, Osuagwu, Uchechukwu Levi, Rubini, Michele, Khan, Faisal, Tapas, C. Nag, Cannayen, Igathinathane, Osuagwu, Uchechukwu Levi, and Rubini, Michele

Abstract

The size and arrangement of stromal collagen fibrils (CFs) influence the optical properties of the cornea and hence its function. The spatial arrangement of the collagen is still questionable in relation to the diameter of collagen fibril. In the present study, we introduce a new parameter, edge-fibrillar distance (EFD) to measure how two collagen fibrils are spaced with respect to their closest edges and their spatial distribution through normalized standard deviation of EFD (NSDEFD) accessed through the application of two commercially available multipurpose solutions (MPS): ReNu and Hippia. The corneal buttons were soaked separately in ReNu and Hippia MPS for five hours, fixed overnight in 2.5% glutaraldehyde containing cuprolinic blue and processed for transmission electron microscopy. The electron micrographs were processed using ImageJ user-coded plugin. Statistical analysis was performed to compare the image processed equivalent diameter (ED), inter-fibrillar distance (IFD), and EFD of the CFs of treated versus normal corneas. The ReNu-soaked cornea resulted in partly degenerated epithelium with loose hemidesmosomes and Bowman’s collagen. In contrast, the epithelium of the cornea soaked in Hippia was degenerated or lost but showed closely packed Bowman’s collagen. Soaking the corneas in both MPS caused a statistically significant decrease in the anterior collagen fibril, ED and a significant change in IFD, and EFD than those of the untreated corneas (p < 0.05, for all comparisons). The introduction of EFD measurement in the study directly provided a sense of gap between periphery of the collagen bundles, their spatial distribution; and in combination with ED, they showed how the corneal collagen bundles are spaced in relation to their diameters. The spatial distribution parameter NSDEFD indicated that ReNu treated cornea fibrils were uniformly distributed spatially, followed by normal and Hippia. The EFD measurement with relatively lower standard deviation and

Published
2015

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