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2. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.

Author

Moschetti, Marta, Lo Curto, Alessia, Giacomarra, Miriam, Francofonte, Daniele, Zizzo, Carmela, Messina, Elisa, Duro, Giovanni, and Colomba, Paolo

Subjects
GLYCOGEN storage disease type II, GENETIC profile, SYMPTOMS, GENETIC variation, DELAYED diagnosis
Abstract

Studying a patient with Pompe disease (PD) is like opening Pandora's box. The specialist is faced with numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden and none is associated with this rare disease. In recent years, scientific interest in this disease has been growing more and more, but still no symptom is recognized as key to a correct diagnosis of it, nor is there any specific disease marker to date. New diagnostic/therapeutic proposals on disease allow for the diffusion of knowledge of this pathology for timely diagnosis of the patient. Due to unawareness and difficulty in diagnosis, many adults with PD are diagnosed with great delay. In this article, we report and discuss current knowledge of PD and provide new data from work conducted on a cohort of 2934 Italian subjects recruited in recent years. A genetic analysis of the GAA gene was performed on patients with significant clinical signs and pathological enzyme activity to define the genetic profile of subjects. This identified 39 symptomatic PD subjects with low acid alpha-glucosidase enzyme activity and the presence of two causative mutations in GAA gene regions. Furthermore, 22 subjects with genetic variants of uncertain significance (GVUS) were identified. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis

Author

Giacomarra, Miriam, primary, Colomba, Paolo, additional, Francofonte, Daniele, additional, Zora, Marcomaria, additional, Caocci, Giovanni, additional, Diomede, Daniela, additional, Giuffrida, Gaetano, additional, Fiori, Laura, additional, Montanari, Chiara, additional, Sapuppo, Annamaria, additional, Scortechini, Anna Rita, additional, Vitturi, Nicola, additional, Duro, Giovanni, additional, and Zizzo, Carmela, additional

Published
2024
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5. Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease

Author

Lo Curto, Alessia, primary, Taverna, Simona, additional, Costa, Maria Assunta, additional, Passantino, Rosa, additional, Augello, Giuseppa, additional, Adamo, Giorgia, additional, Aiello, Anna, additional, Colomba, Paolo, additional, Zizzo, Carmela, additional, Zora, Marco, additional, Accardi, Giulia, additional, Candore, Giuseppina, additional, Francofonte, Daniele, additional, Di Chiara, Tiziana, additional, Alessandro, Riccardo, additional, Caruso, Calogero, additional, Duro, Giovanni, additional, and Cammarata, Giuseppe, additional

Published
2021
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6. Pompe disease: pathogenesis, molecular genetics and diagnosis

Author

Taverna, Simona, primary, Cammarata, Giuseppe, additional, Colomba, Paolo, additional, Sciarrino, Serafina, additional, Zizzo, Carmela, additional, Francofonte, Daniele, additional, Zora, Marco, additional, Scalia, Simone, additional, Brando, Chiara, additional, Curto, Alessia Lo, additional, Marsana, Emanuela Maria, additional, Olivieri, Roberta, additional, Vitale, Silvia, additional, and Duro, Giovanni, additional

Published
2020
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7. Genetic screening of Fabry patients with EcoTILLING and HRM technology

Author

Iemolo Francesco, Francofonte Daniele, Zizzo Carmela, Albeggiani Giuseppe, Nuzzo Domenico, Bono Caterina, Sanzaro Enzo, and Duro Giovanni

Subjects
Anderson-Fabry, haplotype, screening, HRM, EcoTILLING, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
Abstract

Abstract Background Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to the accumulation of complex sphingolipids, especially globotriaosylceramide (Gb3), in all the cells of the body, causing the onset of a multi-systemic disease with poor prognosis in adulthood. In this article, we describe two alternative methods for screening the GLA gene which codes for the α-galactosidase A enzyme in subjects with probable FD in order to test analysis strategies which include or rely on initial pre-screening. Findings We analyzed 740 samples using EcoTILLING, comparing two mismatch-specificendonucleases, CEL I and ENDO-1, while conducting a parallel screening of the same samples using HRM (High Resolution Melting). Afterwards, all samples were subjected to direct sequencing. Overall, we identified 12 different genetic variations: -10C>T, -12G>A, -30G>A, IVS2-76_80del5, D165H, C172Y, IVS4+16A>G, IVS4 +68 A>G, c.718_719delAA, D313Y, IVS6-22C>T, G395A. This was consistent with the high genetic heterogeneity found in FD patients and carriers. All of the mutations were detected by HRM, whereas 17% of the mutations were not found by EcoTILLING. The results obtained by EcoTILLING comparing the CEL I and ENDO-1 endonucleases were perfectly overlapping. Conclusion On the basis of its simplicity, flexibility, repeatability, and sensitivity, we believe thatHRM analysis of the GLA gene is a reliable presequencing screening tool. This method can be applied to any genomic feature to identify known and unknown genetic alterations, and it is ideal for conducting screening and population studies.

Published
2011
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8. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Author

Duro, Giovanni, primary, Zizzo, Carmela, additional, Cammarata, Giuseppe, additional, Burlina, Alessandro, additional, Burlina, Alberto, additional, Polo, Giulia, additional, Scalia, Simone, additional, Oliveri, Roberta, additional, Sciarrino, Serafina, additional, Francofonte, Daniele, additional, Alessandro, Riccardo, additional, Pisani, Antonio, additional, Palladino, Giuseppe, additional, Napoletano, Rosa, additional, Tenuta, Maurizio, additional, Masarone, Daniele, additional, Limongelli, Giuseppe, additional, Riccio, Eleonora, additional, Frustaci, Andrea, additional, Chimenti, Cristina, additional, Ferri, Claudio, additional, Pieruzzi, Federico, additional, Pieroni, Maurizio, additional, Spada, Marco, additional, Castana, Cinzia, additional, Caserta, Marina, additional, Monte, Ines, additional, Rodolico, Margherita, additional, Feriozzi, Sandro, additional, Battaglia, Yuri, additional, Amico, Luisa, additional, Losi, Maria, additional, Autore, Camillo, additional, Lombardi, Marco, additional, Zoccali, Carmine, additional, Testa, Alessandra, additional, Postorino, Maurizio, additional, Mignani, Renzo, additional, Zachara, Elisabetta, additional, Giordano, Antonello, additional, and Colomba, Paolo, additional

Published
2018
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9. Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area

Author

Zizzo, Carmela, primary, Testa, Alessandra, additional, Colomba, Paolo, additional, Postorino, Maurizio, additional, Natale, Giuseppe, additional, Pini, Alessandro, additional, Francofonte, Daniele, additional, Cammarata, Giuseppe, additional, Scalia, Simone, additional, Sciarrino, Serafina, additional, Zoccali, Carmine, additional, and Duro, Giovanni, additional

Published
2018
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11. Fabry disease, a complex pathology not easy to diagnose

Author

Colomba, Paolo, primary, Scalia, Simone, additional, Cammarata, Giuseppe, additional, Zizzo, Carmela, additional, Francofonte, Daniele, additional, Savica, Vincenzo, additional, Alessandro, Riccardo, additional, Iemolo, Francesco, additional, and Duro, Giovanni, additional

Published
2015
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12. Anderson-Fabry: una malattia rara?

Author

Colomba, Paolo, primary, Cammarata, Giuseppe, additional, Zizzo, Carmela, additional, Scalia, Simone, additional, Francofonte, Daniele, additional, Alessandro, Riccardo, additional, Marsana, Emanuela, additional, Consoli, Lidia, additional, Guttadauria, Serena, additional, Iemolo, Francesco, additional, Savica, Vincenzo, additional, and Duro, Giovanni, additional

Published
2015
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13. FP907HISTORY OF ANDERSON - FABRY DISEASE

Author

Bartolotta, Caterina, primary, Filogamo, Marcello, additional, Colomba, Paolo, additional, Zizzo, Carmela, additional, Albeggiani, Giuseppe, additional, Scalia, Simone, additional, Francofonte, Daniele, additional, Cammarata, Giuseppe, additional, Savica, Vincenzo, additional, and Duro, Giovanni, additional

Published
2015
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16. Anderson-Fabry: una malattia rara?

Author

Colomba, Paolo, Cammarata, Giuseppe, Zizzo, Carmela, Scalia, Simone, Francofonte, Daniele, Alessandro, Riccardo, Marsana, Emanuela, Consoli, Lidia, Guttadauria, Serena, Iemolo, Francesco, Savica, Vincenzo, and Duro, Giovanni

Abstract

Anderson-Fabry: a rare disease?Anderson-Fabry (or Fabry) disease takes the name from the two dermatologists that independently described for the first time the pathology at the end of 1800. It is a multisystemic lysosomal storage disease, inherited in a X-linked manner. Fabry manifestations are slowly progressive, with variable age of onset, severity and clinical course. Usually, in the childhood or in the first period of the adolescence, the patients can manifest angiokeratomas, corneal or lenticular opacity, microalbuminuria or proteinuria and symptoms reflecting the involvement of peripheral nervous system, like episodic crises of acute pain, acroparesthesias, anhidrosis or hypohidrosis. With the age, there is a progression of the disease with a gradual deterioration of kidney function, that leads to End Stage Renal Disease (ESRD), and the onset of severe cardiovascular and cerebrovascular complications, that cause a reduction in quality of life in affected patients. Such complications, or a combination of these, can lead to the premature death of the patient within the fourth or fifth decade of life. In addition to the classic form, atypical variants of the disease were described: these variants manifest a mild and late-onset clinical phenotype, that is difficult to diagnose because of the involvement of a single organ. The 80% of Fabry patients are affected by these variants with a non-specific symptomatology that makes the diagnosis, which can be made in the adulthood after several years since the manifestation of the first symptoms, when the internal organs are irreversibly compromised, difficult. It was estimated a considerable delay in the diagnosis in about 40% of male patients and 70% of female patients. In particular, there is a time interval of 13 years for men and 17 years for women between the onset of the first symptoms and the correct diagnosis. Therefore, Fabry disease should be considered among the diagnostic hypothesis in all the subjects that present a systemic clinical course referable to the disease. The availability of recombinant enzyme replacement therapy has an important impact on clinical management of affected patients, improving the prognosis and the quality of life. The data in literature show the importance of a specific therapeutic intervention made as early as possible, before an irreversible organ involvement.

Published
2015
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