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2. Glucocorticoid Receptor Polymorphism A3669G Is Associated with Airflow Obstruction in Mild-to-Severe Asthma.

Author

Mognetti, Barbara, Giachino, Daniela Francesca, Bertolini, Francesca, Carriero, Vitina, Sprio, Andrea Elio, and Ricciardolo, Fabio Luigi Massimo

Subjects
GLUCOCORTICOID receptors, ASTHMA, IMMUNOGLOBULIN E, GENOTYPES, LUNG diseases, ASTHMATICS
Abstract

Featured Application: Allele A of A3669G SNP was associated with steroid response to GCs in asthmatics. The heterozygous genotype of A3669G might be related to the type-2 allergic asthma phenotype. A3669G SNP can be used as a predictor of asthma severity and phenotype. Background: Glucocorticoids (GCs) represent the mainstay therapy for asthmatics. A subset of severe asthmatics fails to respond to steroid-based therapies, leading to important healthcare costs. Single nucleotide polymorphisms (SNPs) of glucocorticoid receptor genes were associated with a response to GC. We evaluate the possible relation of BclI and A3669G SNPs to clinical, biological and functional characteristics of asthmatics. Methods: We recruited 172 mild-to-severe asthmatic outpatients referring to the Severe Asthma and Rare Lung Disease Unit at San Luigi University Hospital. Clinical data were obtained at recruitment when spirometry tests and peripheral blood sampling were performed. Patients were genotyped for BclI and A3669G through the pyrosequencing assay results. Results: Patients with the A3669G AG genotype were younger, allergic and had higher IgE levels compared to AA genotype (p < 0.05). Moreover, asthmatics with the AA genotype had a lower post-bronchodilator FEV1/FVC ratio than the GG genotype (p < 0.05), and a higher RV/TLC ratio than the AG genotype (p < 0.05). Conclusions: The A3669G AG genotype might be related to type-2 allergic asthma; in particular, allele A of A3669G SNP was associated with GC response in our asthmatics. In conclusion, this observational cross-sectional study suggests a possible role of A3669G SNP as a predictor of asthma severity and phenotype. [ABSTRACT FROM AUTHOR]

Published
2023
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5. Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.

Author

Sutera, Samuele, Giachino, Daniela Francesca, Pelle, Alessandra, Zuntini, Roberta, and Pentenero, Monica

Subjects
GINGIVAL recession, GINGIVAL hyperplasia, HAMARTOMA, TUMOR suppressor genes, SYMPTOMS, ORAL interpretation, SYNDROMES
Abstract

PTEN hamartoma tumor syndrome (PHTS), is a spectrum of disorders caused by mutations of PTEN, in which non-cancerous growths, called hamartomas, develop in different areas of the body, often including the oral mucosa. PHTS also implies a recognized increased risk of malignancies, as PTEN is a tumor suppressor gene capable of inhibiting progression of several cancers. One of the main and most common clinical manifestation of PHTS are gingival overgrowths presenting as warty lumps. The current study describes patients with gingival or mucosal enlargements leading to the diagnosis of PHTS associated to novel PTEN pathogenic variants. Patients referred to us for gingival lumps suggestive of PHTS associated overgrowths were submitted to genetic analysis in the PTEN gene. Two related and two unrelated patients were investigated. PTEN novel pathogenic variant was found in all of them. Two patients also fulfilled diagnostic criteria of Cowden syndrome (CS). Mucocutaneous lesions, and particularly diffuse gingival overgrowths, are both early and major clinical signs revealing a potential diagnosis of PHTS. Further genetic and clinical assessments are needed in order to confirm and clarify the diagnosis within the PHTS spectrum, including, among others, the CS. A correct interpretation of oral clinical features potentially associated to PHTS is mandatory for diagnosis and a surgical approach can be useful just in case of impairment of periodontal health or for aesthetic needs. The increased risk of malignancies associated to PHTS makes a correct diagnosis pivotal to set up an appropriate lifelong surveillance, aiming at secondary cancer prevention. [ABSTRACT FROM AUTHOR]

Published
2023
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6. NOTCH3 gene mutations in subjects clinically suspected of CADASIL

Author

Mosca, Lorena, Marazzi, Raffaella, Ciccone, Alfonso, Santilli, Ignazio, Bersano, Anna, Sansone, Valeria, Grosso, Enrico, Mandrile, Giorgia, Giachino, Daniela Francesca, Adobbati, Laura, Corengia, Elisabetta, Agostoni, Elio, Fiumani, Anna, Gallone, Salvatore, Scarpini, Elio, Guidotti, Mario, Sterzi, Roberto, Ajmone, Clara, Marocchi, Alessandro, and Penco, Silvana

Published
2011
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9. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Author

Alonso, Cárdenas-de-la-Parra, Sandra, Martin-Brevet, Clara, Moreau, Borja, Rodriguez-Herreros, Vladimir, S Fonov, Anne, M Maillard, Nicole, R Zürcher, 2 European Consortium, 16p11., Nouchine Hadjikhani 48, Jacques, S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1, Marie-Claude Addor, 7, Joris Andrieux, 8, Benoît Arveiler, 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco, Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Brusco, Alfredo, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca, Forzano, David Genevieve 29, Marion Gérard 30, Giachino, Daniela Francesca, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe, 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Rossi, Massimiliano, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Ecophysiologie Végétale, Agronomie et Nutritions (EVA), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Recherche Agronomique (INRA), Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Human Genetics, Université de Lausanne (UNIL), Service de génétique médicale, Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, EHESP-Irset (EHESP-Irset), École des Hautes Études en Santé Publique [EHESP] (EHESP), CHU Pontchaillou [Rennes], National Institute of Child Health and Human Development, National Institute on Drug Abuse, 3388, MIRI Brain Canada, 201803PJT 400528 BSB, IVADO fund: a Canadian Institute of Health Research, Fonds de Recherche Nature et technologies du Québec, Roger De Spoelberch, Partridge Foundations, National Institute of Mental Health, N01-MH9-0002, National Institute of Neurological Disorders and Stroke, 33CS30-148401, National Science Foundation, MOP-111169, Canadian Institutes of Health Research, 31003A_160203, Schweizerischer Nationalfonds zur F&#x00F6, rderung der Wissenschaftlichen Forschung, Horizon 2020, Fondation Leenaards, and McGill University-McGill University

Subjects
Adult, Adolescent, DNA Copy Number Variations, Cognitive Neuroscience, Biology, computer.software_genre, 050105 experimental psychology, Imaging, White matter, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Voxel, Chromosome Duplication, Gene duplication, medicine, Genetics, Humans, 0501 psychology and cognitive sciences, Copy-number variation, Child, ComputingMilieux_MISCELLANEOUS, 16p11.2 Copy number variants, Brain development, Neurodevelopmental disorders, Normative growth trajectories, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, Brain, medicine.anatomical_structure, Neurology, Evolutionary biology, Child, Preschool, Endophenotype, Human genome, Chromosome Deletion, Insula, computer, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
Abstract

Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4–5) confer high risk for neurodevelopmental disorders and are associated with structural brain alterations of large effect-size. Methods used in previous studies were unable to investigate the onset of these alterations and whether they evolve with age. In this study, we aim at characterizing age-related effects of 16p11.2 copy number variants by analyzing a group with a broad age range including younger individuals. A large normative developmental dataset was used to accurately adjust for effects of age. We normalized volumes of segmented brain regions as well as volumes of each voxel defined by tensor-based morphometry. Results show that the total intracranial volumes, the global gray and white matter volumes are respectively higher and lower in deletion and duplication carriers compared to control subjects at 4.5 years of age. These differences remain stable through childhood, adolescence and adulthood until 23 years of age (range: 0.5 to 1.0 Z-score). Voxel-based results are consistent with previous findings in 16p11.2 copy number variant carriers, including increased volume in the calcarine cortex and insula in deletions, compared to controls, with an inverse effect in duplication carriers (1.0 Z-score). All large effect-size voxel-based differences are present at 4.5 years and seem to remain stable until the age of 23. Our results highlight the stability of a neuroimaging endophenotype over 2 decades during which neurodevelopmental symptoms evolve at a rapid pace.

Published
2019

10. Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients

Author

Giustetto, Carla, primary, Nangeroni, Giulia, additional, Cerrato, Natascia, additional, Rudic, Boris, additional, Tülümen, Erol, additional, Gribaudo, Elena, additional, Giachino, Daniela Francesca, additional, Barbonaglia, Lorella, additional, Biava, Lorenza Michela, additional, Carvalho, Paula, additional, Bergamasco, Laura, additional, Borggrefe, Martin, additional, and Gaita, Fiorenzo, additional

Published
2020
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12. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

Author

Maillard, Am, Ruef, A, Pizzagalli, F, Migliavacca, E, Hippolyte, L, Adaszewski, S, Dukart, J, Ferrari, C, Conus, P, Männik, K, Zazhytska, M, Siffredi, V, Maeder, P, Kutalik, Z, Kherif, F, Hadjikhani, N, Beckmann, Js, Reymond, A, Draganski, B, Jacquemont, S, 2 European Consortium including Addor MC, 1. 6. p. 1. 1., Andrieux, J, Arveiler, B, Baujat, G, Béna, F, Bouquillon, S, Boute, O, Brusco, Alfredo, Campion, D, David, A, Delrue, Ma, Doco Fenzy, M, Fagerberg, C, Faivre, L, Forzano, F, Giachino, Daniela Francesca, Guichet, A, Guillin, O, Héron, D, Isidor, B, Jacquette, A, Journel, H, Keren, B, Lacombe, D, Le Caignec, C, Lespinasse, J, Mandrile, Giorgia, Mathieu Dramard, M, Mignot, C, Petit, F, Plessis, G, Prieur, F, Sanlaville, D, Van Haelst, M, Van Maldergem, L., 16p11.2 European Consortium, and Other departments

Subjects
Adult, Male, Adolescent, DNA Copy Number Variations, Gene Dosage, Chromosomes, Body Mass Index, Young Adult, Humans, Anthropometry, Arabidopsis Proteins, Autistic Disorder, Brain, Brain Mapping, Child, Chromosomes, Human, Pair 16, Female, Genetic Association Studies, Intramolecular Transferases, Middle Aged, Obesity, Phenotype, Psychiatric Status Rating Scales, Schizophrenia, Pair 16, Original Article, Human
Abstract

Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for autism spectrum disorder (ASD) or schizophrenia (SZ). We investigated the variation in brain anatomy in 16p11.2 deletion and duplication carriers. Beyond gene dosage effects on global brain metrics, we show that the number of genomic copies negatively correlated to the gray matter volume and white matter tissue properties in cortico-subcortical regions implicated in reward, language and social cognition. Despite the near absence of ASD or SZ diagnoses in our 16p11.2 cohort, the pattern of brain anatomy changes in carriers spatially overlaps with the well-established structural abnormalities in ASD and SZ. Using measures of peripheral mRNA levels, we confirm our genomic copy number findings. This combined molecular, neuroimaging and clinical approach, applied to larger datasets, will help interpret the relative contributions of genes to neuropsychiatric conditions by measuring their effect on local brain anatomy.Molecular Psychiatry advance online publication, 25 November 2014; doi:10.1038/mp.2014.145.

Published
2015

13. Workload measurement for molecular genetics laboratory: A survey study.

Author

Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra, and null, null

Subjects
EMPLOYEES' workload, MOLECULAR genetics, HEALTH policy, GENETIC disorder diagnosis, MATHEMATICAL optimization
Abstract

Genetic testing availability in the health care system is rapidly increasing, along with the diffusion of next-generation sequencing (NGS) into diagnostics. These issues make imperative the knowledge-drive optimization of testing in the clinical setting. Time estimations of wet laboratory procedure in Italian molecular laboratories offering genetic diagnosis were evaluated to provide data suitable to adjust efficiency and optimize health policies and costs. A survey was undertaken by the Italian Society of Human Genetics (SIGU). Forty-two laboratories participated. For most molecular techniques, the most time-consuming steps are those requiring an intensive manual intervention or in which the human bias can affect the global process time-performances. For NGS, for which the study surveyed also the interpretation time, the latter represented the step that requiring longer times. We report the first survey describing the hands-on times requested for different molecular diagnostics procedures, including NGS. The analysis of this survey suggests the need of some improvements to optimize some analytical processes, such as the implementation of laboratory information management systems to minimize manual procedures in pre-analytical steps which may affect accuracy that represents the major challenge to be faced in the future setting of molecular genetics laboratory. [ABSTRACT FROM AUTHOR]

Published
2018
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17. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Author

Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, and Brusco, Alfredo

Subjects
Article Subject
Abstract

A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.

Published
2014
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25. MDM2 and TP53 are modifier genes of retinoblastoma

Author

Disciglio, V., Berchialla, Paola, Giachino, Daniela Francesca, Amenduni, M., Livide, G., Mencarelli, M., Marozza, A., Mari, F., Ariani, F., Renieri, A., and DE MARCHI, Mario

Subjects
TP53 R72P and MDM2 SNP309 retinoblastoma cancer modifier
Published
2010

28. Primary hyperoxaluria in Italy

Author

Robbiano, Angela, Mandrile, Giorgia, Petrarulo, M., Pirulli, D., Zadro, C., Giachino, Daniela Francesca, Marangella, M., Amoroso, Antonio, and DE MARCHI, Mario

Subjects
AGXT, mutations, Primary Hyperoxaluria
Published
2008

30. The Italian Multicenter Study of Primary Hyperoxaluria

Author

Licia, Peruzzi, Robbiano, Angela, Mandrile, Giorgia, Giachino, Daniela Francesca, Michele, Petrarulo, Martino, Marangella, Rosanna, Coppo, Luisa, Murer, Stefano, Picca, Sonia, Berardi, Giovanni, Mosconi, Amoroso, Antonio, and DE MARCHI, Mario

Subjects
Primary Hyperoxaluria, AGXT, mutations
Published
2008

32. Clinical and genetic study of primary hyperoxaluria in Italy

Author

Robbiano, Angela, Mandrile, Giorgia, Giachino, Daniela Francesca, Petrarulo, M., Pirulli, D., Zadro, C., Marangella, M., Amoroso, Antonio, Peruzzi, L., Murer, L., Picca, S., and DE MARCHI, Mario

Subjects
AGXT, primary hyperoxaluria
Published
2008

38. Pharmacogenetics studies in patients with advanced lung cancer: Prognostic value of the thymidylate synthase 2R/3R polymorphism and predictivity of NER factor XPD K751Q and XRCC1 R399Q polymorphisms following platinum-based chemotherapy

Author

Giachino, Daniela Francesca, Ghio, P., Regazzoni, S., Mandrile, Giorgia, Novello, Silvia, Selvaggi, G., DE MARCHI, Mario, and Scagliotti, Giorgio Vittorio

Subjects
lung cancer, XRCC1, XPD, TSER, polymorphisms, platinum, chemotherapy, pharmacogenetics
Published
2005

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