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496 results on '"SACCHETTI L"'

15. The first large population based twin study of coeliac disease. (Small Intestine)

Author

Greco, L., Romino, R., Coto, I., Cosmo, N. Di, Percopo, S., Maglio, M., Paparo, F., Gasperi, V., Limongelli, M.G., Cotichini, R., D'Agate, C., Tinto, N., Sacchetti, L., Tosi, R., and Stazi, M.A.

Subjects
Celiac disease -- Genetic aspects -- Research, Familial diseases -- Research -- Genetic aspects, Twin studies -- Research, Twins -- Research -- Diseases -- Genetic aspects, Health, Diseases, Research, Genetic aspects
Abstract

Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease [...]

Published
2002

20. Deferiprone: New Insight

Author

PIGA, A, ROGGERO, S, VINCIGUERRA, T, SACCHETTI, L, GALLO, V, and LONGO, F

Published
2005

22. Corrigendum: No change in the mucosal gut microbiome is associated with celiac disease-specific microbiome alteration in adult patients (American Journal of Gastroenterology (2016) 111 (1659-1661) DOI: 10.1038/ajg.2016.227)

Author

D'Argenio, V, Casaburi, G, Precone, V, Pagliuca, C, Colicchio, R, Sarnataro, D, Discepolo, V, Kim, S, Russo, I, DEL VECCHIO BLANCO, G, Horner, D, Chiara, M, Pesole, G, Salvatore, P, Monteleone, G, Ciacci, C, Caporaso, G, Jabrì, B, Salvatore, F, and Sacchetti, L

Subjects
Settore MED/12 - Gastroenterologia
Published
2017

25. Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)

Author

Pinelli M, Acquaviva F, Barbetti F, Caredda E, Cocozza S, Delvecchio M, Mozzillo E, Pirozzi D, Prisco F, Rabbone I, Sacchetti L, Tinto N, Toni S, Zucchini S, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Diabetology, IAFUSCO, Dario, Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, Dario, Italian Study Group on Diabetes of the Italian Society of Pediatric, Endocrinology, and Diabetology

Abstract

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5–1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients’ quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary ‘‘yes or no’’ questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients’ quality of life and savings for the health care system of about 9 million euros per year.

Published
2013

26. Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ?

Author

Iafusco, D, Barbetti, F, Massimi, A, Grasso, V, Rabbone, I, Casaburo, F, Cocca, A, Confetto, S, Galderisi, A, Paccone, A, Picariello, S, Piscopo, A, Russo, L, Villano, P, Zanfardino, A, Prisco, F, Tinto, N, Mazzaccara, C, Pirozzi, D, De Sanctis, P, Pinelli, M, Acquaviva, F, and Sacchetti, L

Subjects
Settore MED/13, Settore MED/03
Published
2015

27. Loss of striatal cannabinoid CB1 receptor function in attention-deficit / hyperactivity disorder mice with point-mutation of the dopamine transporter

Author

Castelli M, Federici M, Rossi S, De Chiara V, NAPOLITANO, Francesco, Studer V, Motta C, Sacchetti L, Romano R, Musella A, Bernardi G, Siracusano A, Gu HH, Mercuri NB, Usiello A, Centonze D., Castelli, M, Federici, M, Rossi, S, De Chiara, V, Napolitano, F, Studer, V, Motta, C, Sacchetti, L, Romano, R, Musella, A, Bernardi, G, Siracusano, A, Gu, Hh, Mercuri, Nb, Usiello, Alessandro, Centonze, D., Napolitano, Francesco, and Usiello, A

Subjects
Male, CB1 receptor, Sucrose, Motor Activity, Inbred C57BL, Transgenic, Methoxyhydroxyphenylglycol, Mice, Food Preferences, Dopamine Uptake Inhibitors, Cocaine, Receptors, Animals, Point Mutation, Dronabinol, endocannabinoids, Cannabinoid, Dopamine Plasma Membrane Transport Proteins, Animal, GABA-B, CB1, Corpus Striatum, D2 receptor, nervous system, Inhibitory Postsynaptic Potentials, Gene Expression Regulation, Attention Deficit Disorder with Hyperactivity, Disease Models, Settore MED/26 - Neurologia, Excitatory Amino Acid Antagonists, Receptors, GABA-B, Disease Models, Animal, Mice, Transgenic, Mice, Inbred C57BL, Receptor, Cannabinoid, CB1, Receptor
Abstract

"Abnormal dopamine (DA) transmission in the striatum plays a pivotal role in attention-deficit\/hyperactivity disorder (ADHD). As striatal DA signalling modulates the endocannabinoid system (ECS), the present study was aimed at investigating cannabinoid CB1 receptor (CB1R) function in a model of ADHD obtained by triple point-mutation in the dopamine transporter (DAT) gene in mice, making them insensitive to cocaine [DAT cocaine-insensitive (DAT-CI) mice]. DAT-CI mice had a marked hyperactive phenotype, and neurophysiological recordings revealed that the sensitivity of CB1Rs controlling GABA-mediated synaptic currents [CB1Rs((GABA)) ] in the striatum was completely lost. In contrast, CB1Rs modulating glutamate transmission [CB1Rs((Glu)) ], and GABA(B) receptors were not affected in this model of ADHD. In DAT-CI mice, the blockade of CB1R((GABA)) function was complete even after cocaine or environmental manipulations activating the endogenous DA-dependent reward system, which are known to sensitize these receptors in control animals. Conversely, the hedonic property of sucrose was intact in DAT-CI mice, indicating normal sweet perception in these animals. Our results point to CB1Rs as novel molecular players in ADHD, and suggest that therapeutic strategies aimed at interfering with the ECS might prove effective in this disorder."

Published
2011

28. Molecular genetic variants associated with AMD in Italian patients

Author

TESTA, Francesco, SODI A, FRISSO G, ROSSI, Settimio, MANITTO MP, PASSERINI I, FERRARI M, MENCHINI U, SACCHETTI L, SIMONELLI F., Testa, Francesco, Sodi, A, Frisso, G, Rossi, Settimio, Manitto, Mp, Passerini, I, Ferrari, M, Menchini, U, Sacchetti, L, and Simonelli, F.

Published
2011

32. Analisi molecolare del gene dell'adiponectina in pazienti del Sud Italia affetti da grave obesità

Author

Daniele, Cammarata, R., Pasanisi, F., Finelli, C., Salvatori, Giancarlo, DI CESARE, C., Giuseppe, C., Bracale, Renata, LA BRUNA, G., Nardelli, C., Sacchetti, L., Contaldo, F., Oriani, G., Daniele, A, Cammarata, R., Pasanisi, F., Finelli, C., Salvatori, G., DI CESARE, C., Calcagno, G., Bracale, R., LA BRUNA, G., Nardelli, C., Sacchetti, L., Contaldo, F., Oriani, G., Daniele, Aurora, R., Cammarata, F., Pasanisi, C., Finelli, G., Salvatori, C., DI CESARE, G., Calcagno, R., Bracale, G., LA BRUNA, C., Nardelli, L., Sacchetti, F., Contaldo, and G., Oriani

Subjects
ADIPONECTINA, OBESI, SUD ITALIA
Published
2008

33. HLA-related genetic risk for coeliac disease

Author

Limongelli, Mg, Bourgey, M, Calcagno, G, Tinto, N, Gennarelli, D, Margaritte-Jeannin, P, Esposito, O, Marano, C, Troncone, R, Spampanato, A, Natale, C, Clerget-Darpoux, F, Sacchetti, L, Greco, L, Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), SPeS Dipartiment, Università degli studi del Molise, Department of Biochemistry and Medical Biotechnology, Università degli studi di Napoli Federico II, Department of Pediatrics and European Laboratory for the Investigation of Food-Induced Diseases, FRM (Fondation de la Recherche Médicale ), ELFID (European Laboratory for the Investigation of Food-Induced Diseases), CEINGE, Regione Campania, • MIUR (Italian Ministero dell'Istruzione, dell'Università e della Ricerca), Vaillant, Christine, Università degli Studi del Molise = University of Molise (UNIMOL), University of Naples Federico II = Università degli studi di Napoli Federico II, Limongelli, Mg, Bourgey, M, Calcagno, G, Tinto, N, Gennarelli, D, MARGARITTE-JEANNIN, P, Esposito, O, Marano, C, Troncone, R, Spampanato, A, CLERGET- DARPOUX, F, Sacchetti, L, and Greco, L.

Subjects
Male, Parents, Proband, Pediatrics, medicine.medical_specialty, Genotype, Genetic counseling, Genetic Counseling, [SDV.GEN] Life Sciences [q-bio]/Genetics, Coeliac Disease, Risk Assessment, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, HLA-DQ Antigens, Humans, Medicine, Genetic Predisposition to Disease, First-degree relatives, Risk factor, 030304 developmental biology, Family Health, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Siblings, DQ-typing, Infant, Newborn, Gastroenterology, 3. Good health, HLA, Celiac Disease, Risk Estimate, family screening, Haplotypes, Cohort, Immunology, Female, 030211 gastroenterology & hepatology, first degree relatives, Risk assessment, business, Cohort study, recurrence risk
Abstract

Background: Several studies have shown an elevated prevalence of coeliac disease (CD) in sibs of coeliac patients (risk 8-12%). Aim and method: This study seeks to evaluate the risk that sibs of children with CD will also develop CD. This cohort of 188 Italian families was composed of probands with CD, at least one sib, and both parents. CD status was determined and HLA-DQ genotyping performed for all family members. The study also used a data set of Italian triads (127 probands and both their parents) also genotyped for HLA-DQ. Results: The overall risk that a sib of a CD patient will develop the disease is estimated at 10% in this sample. The risk estimate ranges from 0,1 to 29% when HLA-DQ information of the proband, parents and sib is considered. We found a negligible risk (lower than 1%) for 40% of the sibs of probands, a risk greater than 1% but less than 10% for 30%, and finally a high or very high risk (above 25%) in one third of families. Conclusion: These results make it possible to provide more accurate information to parents with child with CD about the real risk for another child. An antenatal estimate of the order of risk of CD is now possible. Specific follow-up can thus be offered for babies at high risk.

Published
2007

36. Homocysteine and cognitive function in healthy elderly Italian community dwellers

Author

RAVAGLIA, GIOVANNI, FORTI, PAOLA, MUSCARI, ANTONIO, MARIANI, ERMINIA, MAIOLI F, SACCHETTI L, ARNONE G, NATIVIO V, TALERICO T, VELLAS B, FITTEN LJ, RAVAGLIA G, FORTI P, MAIOLI F, MUSCARI A, SACCHETTI L, ARNONE G, NATIVIO V, TALERICO T, and MARIANI E

Subjects
ELDERLY, HOMOCYSTEINE, COGNITIVE IMPAIRMENT
Abstract

Elevated plasma total homocysteine concentrations (tHcy) are common in the elderly and may be a risk factor for dementia. In an elderly population, we examined the relationship between plasma tHcy and the Mini Mental State Examination (MMSE), a commonly used screening measure of cognitive impairment. Fasting plasma tHcy concentrations were measured in 650 healthy, cognitively normal Italian community-dwellers aged >= 65. Shortly, we found that hyperhocysteinemia has an independent association with concurrent cognitive impairment as measured by MMSE in healthy community-dwellers.

Published
2005

38. A paraoxonase gene polymorphism, PON 1 (55), as an independent risk factor for increased carotid intima-media thickness in middle-aged women. . 2003 Mar;167(1):141-8

Author

FORTUNATO G., RUBBA, PAOLO OSVALDO FEDERICO, PANICO, SALVATORE, TRONO D., TINTO N., MAZZACARA C., DE MICHELE M., IANNUZZI A., VITALE DF, SALVATORE F., SACCHETTI L., Fortunato, G., Rubba, PAOLO OSVALDO FEDERICO, Panico, Salvatore, Trono, D., Tinto, N., Mazzacara, C., DE MICHELE, M., Iannuzzi, A., Vitale, Df, Salvatore, F., and Sacchetti, L.

Published
2003

39. PON1 gene polymorphisms in Italian age-related macular degeneration patients

Author

TESTA, Francesco, SIMONELLI, Francesca, Illiano M, Tinto N, Nesti A, Manitto M, Brancato R, Sacchetti L., Testa, F., Simonelli, F., Illiano, M., Tinto, N., Nesti, A., Manitto, M., Brancato, R., Sacchetti, L., Testa, Francesco, Simonelli, Francesca, Illiano, M, Tinto, N, Nesti, A, Manitto, M, and Brancato, R

Published
2003

43. Characterization of two novel cell lines, DERL-2 (CD56+/CD3+/Tcry5+) and DERL-7 (CD56+/CD3-/TCRgammadelta-),derived from a single patient with CD56+ non- Hodgkin's lymphoma

Author

DI NOTO R., CAMERA A., LUCIANO L., BARONE M., LO PARDO C., BOCCUNI P., INTRIERI M., IZZO, BARBARA, VILLA M.R., MACRI M., ROTOLI B., SACCHETTI L., SALVATORE F., DEL VECCHIO L., PANE, FABRIZIO, DI NOTO, R., Pane, Fabrizio, Camera, A., Luciano, L., Barone, M., LO PARDO, C., Boccuni, P., Intrieri, M., Izzo, Barbara, Villa, M. R., Macri, M., Rotoli, B., Sacchetti, L., Salvatore, F., and DEL VECCHIO, L.

Published
2001

44. characterisation of two novel cell lines, DERL-2 (CD56+/CD3+/TCR gammadelta+) and DERL-7 (CD56+/CD3-/TCR gammadelta-) derived from a single patient with CD56+ non Hodgkin lymphoma

Author

DI NOTO R., PANE, FABRIZIO, CAMERA A., LUCIANO L., BARONE M., LO PARDO C., BOCCUNI P., INTRIERI M., SACCHETTI L, SALVATORE F., DEL VECCHIO L., ROTOLI, BRUNO, DI NOTO, R., Pane, Fabrizio, Camera, A., Luciano, L., Barone, M., LO PARDO, C., Boccuni, P., Intrieri, M., Rotoli, Bruno, Sacchetti, L, Salvatore, F., and DEL VECCHIO, L.

Published
2001

45. Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)

Author

Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, D, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Diabetology, Biagioni, M, Carloni, I, Cester, Am, Cherubini, V, Giorgetti, C, Iannilli, A, Bruzzese, M, Mammì, F, Guasti, M, Lenzi, L, Pepe, R, Piccini, B, Benelli, M, Cadario, F, Calcaterra, V, Cerutti, F, Sicignano, S, Mammì, C, Lazzaro, N, Comberiati, P, Scaramuzza, A, Zuccotti, G, Redaelli, F, Gallo, F, Cappa, M, Patera, P, Schiaffini, R, Cardella, F, Salvo, C, De Marco, R, Chessa, M, Frongia, P, Ricciardi, Mr, Ripoli, C, Zedda, Ma, Citriniti, F, Chiarelli, F, Tumini, S, Coccioli, Ms, De Berardinis, F, Santoro, E, DE LUCA, Filippo, Lombardo, Fortunato, Salzano, Giuseppina, Felappi, B, Prandi, E, Frezza, E, Piccinno, E, Torelli, C, Zecchino, C, Galderisi, A, Monciotti, C, Ingletto, D, Kaufmann, P, Pasquino, B, Lera, R, Lucchesi, S, Perrotta, A, Salardi, S, Scipioni, M, Luceri, S, Stamati, F, Pianese, L, Piceno, A, Tomaselli, L, Vergerio, A, Casaburo, F, Cocca, A, Confetto, S, Forgione, E, Pelliccia, C, Picariello, S, Pisani, F, Piscopo, A, Villano, P, Zanfardino, A, Buono, P, Franzese, A, Nugnes, R, Valerio, G, Maffeis, C, Marigliano, M, Chiari, G, Iovene, B, Vanelli, M., Pinelli, Michele, Acquaviva, Fabio, Barbetti, F, Caredda, E, Cocozza, Sergio, Delvecchio, M, Mozzillo, Enza, Pirozzi, Daniele, Prisco, F, Rabbone, I, Sacchetti, Lucia, Tinto, Nadia, Toni, S, Zucchini, S, and Iafusco, D.

Subjects
Genetics and Molecular Biology (all), Pediatrics, medicine.medical_specialty, Science, Cost-Benefit Analysis, Decision tree, Medicine (all), Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Biochemistry, Maturity onset diabetes of the young, Settore MED/13 - Endocrinologia, Quality of life, Surveys and Questionnaires, Glucokinase, medicine, Humans, Genetic Testing, Prospective Studies, Age of Onset, Prospective cohort study, Child, Wasting, Children, Genetic testing, Retrospective Studies, Glycated Hemoglobin, Multidisciplinary, MODY2, medicine.diagnostic_test, business.industry, Decision Trees, Retrospective cohort study, medicine.disease, Test (assessment), Diabetes Mellitus, Type 2, Italy, Child, Preschool, Mutation, Quality of Life, Medicine, Female, medicine.symptom, business, gene testing, Research Article
Abstract

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary "yes or no" questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.

Published
2012

47. Detection of neoplastic cells in blood by RT-PCR analysis of specific mRNA

Author

CASTALDO G., TOMAIUOLO, ROSSELLA, SANDUZZI A., P.O.N.T.I.C.I.E.L.L.O. A., MARCHETIELLO I., BARIFFI F., SACCHETTI L., SALVATORE F., Castaldo, G., Tomaiuolo, Rossella, Sanduzzi, A., P. O. N. T. I. C. I. E. L. L. O., A., Marchetiello, I., Bariffi, F., Sacchetti, L., and Salvatore, F.

Published
2000

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