337 results on '"Guglielmo R"'
Search Results
2. Observing and modeling long-term persistence of P. noctiluca in coupled complementary marine systems (Southern Tyrrhenian Sea and Messina Strait)
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Bergamasco, A., Cucco, A., Guglielmo, L., Minutoli, R., Quattrocchi, G., Guglielmo, R., Palumbo, F., Pansera, M., Zagami, G., Vodopivec, M., Malej, A., and A.Granata
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- 2022
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3. Predictors and Outcomes of Bronchodilators in Critical Bronchiolitis
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Sunderajan, T., primary, Guglielmo, R., additional, Chandnani, H., additional, Seik-Ismail, T., additional, Jindal, A., additional, and Chawla, H.S., additional
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- 2024
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4. Fecal microbiome analysis uncovers hidden stress effects of low stocking density on rainbow trout
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Guglielmo Raymo, Fabiane Januario, Ali Ali, Ridwan O. Ahmed, Rafet Al-Tobasei, and Mohamed Salem
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Recirculating aquaculture ,Stress ,Microbiome ,Metabolomics ,Rainbow trout ,Oncorhynchus mykiss ,Veterinary medicine ,SF600-1100 ,Microbiology ,QR1-502 - Abstract
Abstract Background Recirculating aquaculture systems can cause chronic stress in fish when stocking density is too high. However, this study tested whether low stocking density can cause fish stress. Adult rainbow trout, with an average weight of 1.517 kg (± 0.39), were subjected to low (12 kg/m3 ± 0.94) and moderate (43 kg/m3 ± 2.03) stocking densities for 24 days in a recirculating system maintained at 15 °C. At the end of the experiment, fecal microbiome analysis was carried out using a 16S rRNA amplicon sequencing. Additionally, an untargeted plasma metabolomics analysis was conducted. Results The moderate stocking density group harboured greater numbers of commensals, such as C. somerae, R. lituseburensis, and L. plantarum. In contrast, detrimental species such as S. putrifacens and P. putida were abundant in the low-stocking density fish. Functional microbiome profiling revealed vitamin B12 salvage and synthesis in moderate stocking densities, which may support intestinal tight junction function. Additionally, vitamin B1 biosynthesis pathways were more abundant in the moderate stocking density group, which may function towards oxidative energy metabolism and protect against oxidative stress. A complementary plasma metabolomics study, although done at slightly different stocking densities and duration, confirmed the presence of blood metabolic stress markers. Elevated levels of L-lactic acid and L-Norvaline, L-Valine, and L-glutamine, indicate low stocking density fish were under stress. Furthermore, a P4HA2 stress gene biomarker confirmed the occurrence of stress in low-density fish. This study suggests that low stocking density can induce stress in fish. Moreover, moderate stocking density leads to a distinct and beneficial fecal microbiome profile. Conclusion Our study highlights the potential benefits of optimizing the stocking density of fish in recirculating aquaculture systems. This can improve fish health and welfare, promoting a more resilient fecal microbiome. Graphical abstract
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- 2024
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5. Imaging studies on dopamine transporter and depression: A review of literature and suggestions for future research
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Camardese, G., Di Giuda, D., Di Nicola, M., Cocciolillo, F., Giordano, A., Janiri, L., and Guglielmo, R.
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- 2014
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6. MicroNESS: an innovative opening–closing multinet for under pack-ice zooplankton sampling
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Guglielmo, L., Arena, G., Brugnano, C., Guglielmo, R., Granata, A., Minutoli, R., Sitran, R., Zagami, G., and Bergamasco, A.
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- 2015
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7. Composition, abundance and distribution of holoplanktonic polychaetes within the Strait of Magellan (southern America) in austral summer
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Guglielmo, R., Gambi, M. C., Granata, A., Guglielmo, L., and Minutoli, R.
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- 2014
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8. Three-dimensional spin-wave dynamics, localization and interference in a synthetic antiferromagnet
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Davide Girardi, Simone Finizio, Claire Donnelly, Guglielmo Rubini, Sina Mayr, Valerio Levati, Simone Cuccurullo, Federico Maspero, Jörg Raabe, Daniela Petti, and Edoardo Albisetti
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Science - Abstract
Abstract Spin waves are collective perturbations in the orientation of the magnetic moments in magnetically ordered materials. Their rich phenomenology is intrinsically three-dimensional; however, the three-dimensional imaging of spin waves has so far not been possible. Here, we image the three-dimensional dynamics of spin waves excited in a synthetic antiferromagnet, with nanoscale spatial resolution and sub-ns temporal resolution, using time-resolved magnetic laminography. In this way, we map the distribution of the spin-wave modes throughout the volume of the structure, revealing unexpected depth-dependent profiles originating from the interlayer dipolar interaction. We experimentally demonstrate the existence of complex three-dimensional interference patterns and analyze them via micromagnetic modelling. We find that these patterns are generated by the superposition of spin waves with non-uniform amplitude profiles, and that their features can be controlled by tuning the composition and structure of the magnetic system. Our results open unforeseen possibilities for the study and manipulation of complex spin-wave modes within nanostructures and magnonic devices.
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- 2024
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9. Practical Model for the Calculation of Lateral Electromagnetic Loads in Tokamaks at Asymmetric Vertical Displacement Events (AVDEs)
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Sergey Sadakov, Fabio Villone, Daniel Iglesias, Luis Maqueda, Jesus Almenara-Rescalvo, Guglielmo Rubinacci, and Salvatore Ventre
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tokamak ,asymmetric ,vertical ,parametric ,model ,balance ,Physics ,QC1-999 ,Plasma physics. Ionized gases ,QC717.6-718.8 - Abstract
This paper describes a new practical numerical model for the calculation of lateral electromagnetic (EM) loads in tokamaks during asymmetric vertical displacement events (AVDEs). The model combines key features of two recently reported trial models while avoiding their drawbacks. Their common basic feature is the superposition of two patterns of halo current: one perfectly symmetric and another perfectly anti-symmetric. This model combines the following features that have not been combined before (a) a helically distorted halo layer wrapping around core plasma, and (b) halo-to-wall interception belts slipping along plasma-facing walls. This combination almost doubles the lateral net forces. An AVDE creates significant lateral net moments. Being relatively modest at VDEs, the lateral moments become a dominant component of EM loads at AVDEs. The model carefully tracks the balance of net EM loads (zero total for the tokamak), as a necessary condition for the consequent numerical simulation of the tokamak’s dynamic response. This balance is needed as well for the development of tokamak monitoring algorithms and simulators. In order to decouple from the current uncertainties in the interpretation and simulation of AVDE physics, the model does not simulate AVDE evolution but uses it as an input assumption based on the existing interpretation and simulation of AVDE physics. This means the model is to be used in a manner of parametric study, at widely varied input assumptions on AVDE evolution and severity. Parametric results will fill a library of ready-for-use waveforms of asymmetric EM loads (distributed and total) at tokamak structures and coils, so that the physics community may point to specific variants for subsequent engineering analysis. This article presents the first practical contribution to this AVDE library.
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- 2024
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10. Systemic Amyloidosis and Monoclonal Gammopathy in Three Italian Siblings : A Familian Case of AL-Amyloidosis?
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Miliani, A., Bergesio, F., Salvadori, M., Ciciani, A. M., Merlini, G. P., Di Guglielmo, R., Menicucci, A., Torricelli, F., Di Lollo, S., Aman-Tini, A., Mancucci, M., Sodi, A., Zuccarini, S., Capobianco, T., Natvig, Jacob B., editor, Førre, Øystein, editor, Husby, Gunnar, editor, Husebekk, Anne, editor, Skogen, Bjørn, editor, Sletten, Knut, editor, and Westermark, Per, editor
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- 1991
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11. Comparison of HPV-positive triage strategies combining extended genotyping with cytology or p16/ki67 dual staining in the Italian NTCC2 studyResearch in context
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Maria Benevolo, Guglielmo Ronco, Pamela Mancuso, Francesca Carozzi, Laura De Marco, Elena Allia, Simonetta Bisanzi, Raffaella Rizzolo, Daniela Gustinucci, Annarosa Del Mistro, Helena Frayle, Massimo Confortini, Jessica Viti, Anna Iossa, Elena Cesarini, Simonetta Bulletti, Basilio Passamonti, Silvia Gori, Laura Toniolo, Laura Bonvicini, Francesco Venturelli, Nicolas Wentzensen, Paolo Giorgi Rossi, Alessandra Barca, Francesco Quadrino, Francesca Rollo, Gabriele Carlinfante, Teresa Rubino, Francesca Maria Carozzi, Cristina Sani, Andrea Baldini, Giampaolo Pompeo, Alessandra Mongia, Giulia Fantacci, Donella Puliti, Carmelina Di Pierro, Luigia Macrì, Teresa Pusiol, Mattia Barbareschi, Emma Bragantini, Gabriella Penon, Natalina Marchi, Manuel Zorzi, Elena Narne, and Anna Turrin
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Human papillomavirus ,HPV genotyping ,Cervical cancer screening ,Triage ,HPV DNA testing ,Accuracy ,Medicine ,Medicine (General) ,R5-920 - Abstract
Summary: Background: Each high-risk HPV genotype has different oncogenic potential, and the risk of CIN3+ varies according to genotype. We evaluated the performance of different strategies of HPV-positivity triage combining cytology, p16/ki67 dual staining (DS), and extended genotyping. Methods: Samples from 3180 consecutive women from the NTCC2 study (NCT01837693) positive for HPV DNA at primary screening, were retrospectively analyzed by the BD Onclarity HPV Assay, which allows extended genotyping. Genotypes were divided into three groups based on the risk of CIN3+. HPV DNA-positive women were followed up for 24 months or to clearance. Findings: Combining the three groups of genotypes with cytology or DS results we identify a group of women who need immediate colposcopy (PPV for CIN3+ from 7.8 to 20.1%), a group that can be referred to 1-year HPV retesting (PPV in those HPV-positive at retesting from 2.2 to 3.8), and a group with a very low 24-month CIN3+ risk, i.e. 0.4%, composed by women cytology or DS negative and positive for HPV 56/59/66 or 35/39/68 or negative with the Onclarity test, who can be referred to 3-year retesting. Interpretation: Among the baseline HPV DNA positive/cytology or DS negative women, the extended genotyping allows to stratify for risk of CIN3+, and to identify a group of women with a risk of CIN3+ so low in the next 24 months that they could be referred to a new screening round after 3 years. Funding: Italian Ministry of Health (grant number RF-2009-1536040). Hologic-Genprobe, Roche Diagnostics, and Becton & Dickinson provided financial and non-financial support.
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- 2024
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12. Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated
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Villani, Guglielmo R. D., Chierchia, Armando, Di Napoli, Daniele, and Di Natale, Paola
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- 2012
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13. Euclid preparation
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V. Guglielmo, R. Saglia, F. J. Castander, A. Galametz, S. Paltani, R. Bender, M. Bolzonella, P. Capak, O. Ilbert, D. C. Masters, D. Stern, S. Andreon, N. Auricchio, A. Balaguera-Antolínez, M. Baldi, S. Bardelli, A. Biviano, C. Bodendorf, D. Bonino, E. Bozzo, E. Branchini, S. Brau-Nogue, M. Brescia, C. Burigana, R. A. Cabanac, S. Camera, V. Capobianco, A. Cappi, C. Carbone, J. Carretero, C. S. Car
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- 2020
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14. Classification of Neisseria meningitidis genomes with a bag-of-words approach and machine learning
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Marco Podda, Simone Bonechi, Andrea Palladino, Mattia Scaramuzzino, Alessandro Brozzi, Guglielmo Roma, Alessandro Muzzi, Corrado Priami, Alina Sîrbu, and Margherita Bodini
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Microbial genomics ,Classification of bioinformatical subject ,Machine learning ,Science - Abstract
Summary: Whole genome sequencing of bacteria is important to enable strain classification. Using entire genomes as an input to machine learning (ML) models would allow rapid classification of strains while using information from multiple genetic elements. We developed a “bag-of-words” approach to encode, using SentencePiece or k-mer tokenization, entire bacterial genomes and analyze these with ML. Initial model selection identified SentencePiece with 8,000 and 32,000 words as the best approach for genome tokenization. We then classified in Neisseria meningitidis genomes the capsule B group genotype with 99.6% accuracy and the multifactor invasive phenotype with 90.2% accuracy, in an independent test set. Subsequently, in silico knockouts of 2,808 genes confirmed that the ML model predictions aligned with our current understanding of the underlying biology. To our knowledge, this is the first ML method using entire bacterial genomes to classify strains and identify genes considered relevant by the classifier.
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- 2024
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15. Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
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Tessitore, Alessandra, Villani, Guglielmo R. D., Di Domenico, Carmela, Filocamo, Mirella, Gatti, Rosanna, and Di Natale, Paola
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- 2000
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16. Endoscopic Findings on Facial Nerve Anatomy During Exclusive Endoscopic Stapedotomy: Clinical Considerations and Impact on Surgical Results
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Davide Soloperto, Guglielmo Ronzani, Luca Sacchetto, and Daniele Marchioni
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Otorhinolaryngology ,RF1-547 - Published
- 2023
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17. A new case of M/SCHAD deficiency: the contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management
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Casertano, Alberto, primary, Frisso, Giulia, additional, Montefusco, Giuseppe, additional, Mazzaccara, Cristina, additional, Villani, Guglielmo R., additional, Mozzillo, Enza, additional, Ruoppolo, Margherita, additional, and Franzese, Adriana, additional
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- 2019
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18. Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease
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Natale, Paola Di, Villani, Guglielmo R. D., Parini, Rossella, Scarpa, Maurizio, Parenti, Giancarlo, Pontarelli, Gianfranco, Grosso, Michela, Sersale, Giovanna, Tomanin, Rosella, Sibilio, Michelina, Barone, Rita, and Fiumara, Agata
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- 2008
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19. A Technical-Thematic Civil Protection Exercise in Italy: UAS Fleets-Based Activities Supporting Emergency Response in Seismic Scenarios
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Martina Mandirola, Chiara Casarotti, Umberto Morra di Cella, Andrea Berton, Guglielmo Rossi, Carlo Tacconi Stefanelli, Alessandro Menin, and Onofrio Lorusso
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civil protection ,multi-rotor unmanned aerial system (UAS) ,rapid mapping ,coordinated flight strategy ,tactical and strategical risk mitigations ,Technology ,Engineering (General). Civil engineering (General) ,TA1-2040 ,Biology (General) ,QH301-705.5 ,Physics ,QC1-999 ,Chemistry ,QD1-999 - Abstract
In October 2023, during the Italian Civil Protection Week, in Eastern Lombardy (Italy) a large technical-thematic seismic exercise called “EXE.Lomb.Est 2023” was organized, with the goal of testing the response of the Regional Civil Protection system for post-earthquake damage assessment activities. Within this context, the use of an unmanned aerial system (UAS), in particular the deployment of multi-rotors UAS teams, has been tested as support for the rapid mapping of a large area involving the simultaneous participation of different Italian institutions with UAS units. Coordinated flight planning design, safety issues, coordination and communication procedures, data management and delivery of the results are some of the main aspects investigated and presented in this work.
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- 2024
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20. In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors
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Di Natale, Paola, Di Domenico, Carmela, Villani, Guglielmo R. D., Lombardo, Angelo, Follenzi, Antonia, and Naldini, Luigi
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- 2002
21. A network of Italian amphipodologists in the frame of MOTax (Marine Organisms Taxonomy) at the Stazione Zoologica Anton Dohrn di Napoli (Italy)
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Scipione MB, Lo Brutto S, Cirino P, Di Capua I, Guglielmo R, Patti FP, Sarno D, Scipione MB, Lo Brutto S, Cirino P, Di Capua I, Guglielmo R, Patti FP, and Sarno D
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Taxonomy, Crustacea Amphipoda, network, MOTAX, Italy ,Settore BIO/05 - Zoologia - Published
- 2017
22. 'Classical organic acidurias': diagnosis and pathogenesis
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Margherita Ruoppolo, Guglielmo R. D. Villani, Giovanna Gallo, Francesco Salvatore, Emanuela Scolamiero, Villani, GUGLIELMO ROSARIO DOMENI, Gallo, G, Scolamiero, E, Salvatore, Francesco, and Ruoppolo, Margherita
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0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Carboxylic Acids ,Inborn errors of metabolism ,Urine ,Organic aciduria ,Gas Chromatography-Mass Spectrometry ,General Biochemistry, Genetics and Molecular Biology ,Reference interval ,Pathogenesis ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,Clinical Laboratory Techniques ,Diagnostic Tests, Routine ,Catabolism ,business.industry ,Incidence ,Maple syrup urine disease ,nutritional and metabolic diseases ,General Medicine ,medicine.disease ,Reference intervals ,030104 developmental biology ,Biochemistry ,Reference values ,Diagnosis and pathogenesi ,business ,Metabolism, Inborn Errors ,030217 neurology & neurosurgery - Abstract
Organic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a transport protein involved in one of the several cellular metabolic pathways devoted to the catabolism of amino acids, carbohydrates or lipids. These deficiencies result in abnormal accumulation of organic acids in the body and their abnormal excretion in urine. More than 65 organic acidurias have been described; the incidence varies, individually, from 1 out of 10,000 to >1 out of 1000,000 live births. Collectively, their incidence approximates 1 out of 3000 live births. Among these disorders, methyl malonic aciduria, propionic aciduria, maple syrup urine disease and isovaleric aciduria are sometimes referred to as classical organic acidurias. In this review, we focused on the basic GC–MS-based methodologies employed in the diagnosis of classical organic acidurias and provided updated reference values for the most common involved organic acids. We also attempted to provide the most recent updates on the pathogenetic bases of these diseases.
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- 2016
23. Hypermethioninemia in Campania: Results from 10 years of newborn screening
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Marianna Caterino, Lucia Albano, Antonio Nolano, Cristina Mazzaccara, Francesco Salvatore, Silvia Di Tommaso, Guglielmo R. D. Villani, Maria Grazia Fisco, Margherita Ruoppolo, Simona Fecarotta, Maria Grazia Turturo, Giulia Frisso, Pietro Strisciuglio, Emanuela Marchese, Daniela Crisci, Giancarlo Parenti, Giovanna Gallo, Fabiana Vallone, Adriana Redi, R. Pecce, Villani, G. R. D., Albano, L., Caterino, M., Crisci, D., Di Tommaso, S., Fecarotta, S., Fisco, M. G., Frisso, G., Gallo, G., Mazzaccara, C., Marchese, E., Nolano, A., Parenti, G., Pecce, R., Redi, A., Salvatore, F., Strisciuglio, P., Turturo, M. G., Vallone, F., and Ruoppolo, M.
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Newborn screening ,Pediatrics ,medicine.medical_specialty ,Case Report ,AdoCbl, 5′-deoxyadenosylcobalamin NBS ,Homocystinuria ,Hypermethioninemia ,Cbl, cobalamin ,CBS deficiency ,MAT I/III deficiency ,chemistry.chemical_compound ,Endocrinology ,DBS, dried blood spot samples ,Genetics ,medicine ,CBS, cystathionine β-synthase ,lcsh:QH301-705.5 ,Molecular Biology ,lcsh:R5-920 ,Methionine ,biology ,business.industry ,Incidence (epidemiology) ,medicine.disease ,Cystathionine beta synthase ,Dried blood spot ,MAT I/III, methionine adenosyltransferase type I and III ,lcsh:Biology (General) ,chemistry ,Methionine Adenosyltransferase ,biology.protein ,lcsh:Medicine (General) ,business ,NBS, Newborn screening - Abstract
In the last years tandem mass spectrometry (MS/MS) has become a leading technology used for neonatal screening purposes. Newborn screening by MS/MS on dried blood spot samples (DBS) has one of its items in methionine levels: the knowledge of this parameter allows the identification of infant affected by homocystinuria (cystathionine β-synthase, CBS, deficiency) but can also lead, as side effect, to identify cases of methionine adenosyltransferase (MAT) type I/III deficiency.We started an expanded newborn screening for inborn errors of metabolism in Campania region in 2007. Here we report our ten years experience on expanded newborn screening in identifying patients affected by hypermethioninemia. During this period we screened approximately 77,000 infants and identified two cases: one case of classical homocystinuria and one patient affected by defect of MAT I/III. In this paper we describe these patients and their biochemical follow-up and review the literature concerning worldwide newborn screening reports on incidence of CBS and MAT deficiency. Keywords: Newborn screening, Hypermethioninemia, MAT I/III deficiency, CBS deficiency
- Published
- 2019
24. Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
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Giovanna Gallo, Lucia Albano, Emanuela Scolamiero, Roberta Romanelli, Margherita Ruoppolo, Carla Cozzolino, Guglielmo R. D. Villani, Giulia Frisso, Cozzolino, Carla, Villani, GUGLIELMO ROSARIO DOMENI, Frisso, Giulia, Scolamiero, Emanuela, Albano, Lucia, Gallo, Giovanna, Romanelli, Roberta, and Ruoppolo, Margherita
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0301 basic medicine ,Newborn screening ,lcsh:QH426-470 ,Biology ,MCCC2 mutations ,medicine.disease_cause ,Asymptomatic ,Organic aciduria ,3-methylcrotonyl-CoA carboxylase deficiency ,03 medical and health sciences ,organic aciduria ,Genetics ,medicine ,Missense mutation ,3-Methylcrotonylglycinuria ,Molecular Biology ,Gene ,Mutation ,newborn screening ,3-Methylcrotonyl-CoA carboxylase deficiency ,medicine.disease ,Phenotype ,Molecular biology ,lcsh:Genetics ,030104 developmental biology ,Human and Medical Genetics ,medicine.symptom ,MCCC2 mutation - Abstract
3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine. The phenotype of 3-MCC deficiency is highly variable, ranging from severe neurological abnormalities and death in infancy to asymptomatic adults. Here we report the biochemical and molecular characterization of an Italian asymptomatic girl, positive for the newborn screening test. Molecular analysis showed two mutations in the MCCC2 gene, an already described missense mutation, c.691A > T (p.I231F), and a novel splicing mutation, c.1150-1G > A. We characterized the expression profile of the splice mutation by functional studies.
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- 2018
25. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
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A. Rossi, Pietro Strisciuglio, Guglielmo R. D. Villani, Daniela Melis, Augusta Moccia, Giovanna Gallo, Lucia Albano, Giancarlo Parenti, Daniela Crisci, Margherita Ruoppolo, Pietro Formisano, Rossi, A, Ruoppolo, M, Formisano, P, Villani, G, Albano, L, Gallo, G, Crisci, D, Moccia, A, Parenti, G, Strisciuglio, P, and Melis, D.
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Male ,0301 basic medicine ,G6PC ,Mitochondrial Diseases ,Glycogen Storage Disease Type I ,Mitochondrion ,Antiporters ,chemistry.chemical_compound ,0302 clinical medicine ,Insulin ,GSDIa ,Child ,Genetics (clinical) ,Glycogen storage disease type I ,Urine organic acids ,Lipids ,GSDIa Insulin-resistance Lipids Mitochondria Acylcarnitines Urine organic acids ,Mitochondria ,Child, Preschool ,Glucose-6-Phosphatase ,Female ,Acylcarnitines ,Adult ,medicine.medical_specialty ,Adolescent ,Monosaccharide Transport Proteins ,030209 endocrinology & metabolism ,Urinalysis ,Carbohydrate metabolism ,Young Adult ,03 medical and health sciences ,Insulin resistance ,Carnitine ,Internal medicine ,Genetics ,medicine ,Humans ,Cholesterol ,business.industry ,Case-control study ,Insulin-resistance ,medicine.disease ,030104 developmental biology ,Endocrinology ,chemistry ,Case-Control Studies ,Multivariate Analysis ,Linear Models ,Insulin Resistance ,business ,Acids ,Biomarkers - Abstract
Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Mitochondrial dysfunction can demonstrate abnormalities in plama acylcarnitines (ACs) and urine organic acids (UOA). The aim of the study was to investigate the presence of mitochondrial impairment in GSDI patients and its possible connection with IR. Methods: Fourteen GSDIa, seven GSDIb patients, 28 and 14 age and sex-matched controls, were enrolled. Plasma ACs, UOA, and surrogate markers of IR (HOMA-IR, QUICKI, ISI, VAI) were measured. Results: GSDIa patients showed higher short-chain ACs and long-chain ACs levels and increased urinary excretion of lactate, pyruvate, 2-ketoglutarate, 3-methylglutaconate, adipate, suberate, aconitate, ethylmalonate, fumarate, malate, sebacate, 4-octenedioate, 3OH-suberate, and 3-methylglutarate than controls (p < 0.05). GSDIb patients showed higher C0 and C4 levels and increased urinary excretion of lactate, 3-methylglutarate and suberate than controls (p < 0.05). In GSDIa patients C18 levels correlated with insulin serum levels, HOMA-IR, QUICKI, and ISI; long-chain ACs levels correlated with cholesterol, triglycerides, ALT serum levels, and VAI. Discussion: Increased plasma ACs and abnormal UOA profile suggest mitochondrial impairment in GSDIa. Correlation data suggest a possible connection between mitochondrial impairment and IR. We hypothesized that mitochondrial overload might generate by-products potentially affecting the insulin signaling pathway, leading to IR. On the basis of the available data, the possible pathomechanism for IR in GSDIa is proposed.
- Published
- 2018
26. Neuropsychological Performance in Alcohol Dependent Patients: A One-Year Longitudinal Study.
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Ioime, L, Guglielmo, Riccardo, Affini, Gf, Quatrale, Marianna, Martinotti, Giovanni, Callea, A, Savi, E, Janiri, Luigi, Guglielmo R, Quatrale M, Martinotti G, Janiri L. (ORCID:0000-0002-1633-9418), Ioime, L, Guglielmo, Riccardo, Affini, Gf, Quatrale, Marianna, Martinotti, Giovanni, Callea, A, Savi, E, Janiri, Luigi, Guglielmo R, Quatrale M, Martinotti G, and Janiri L. (ORCID:0000-0002-1633-9418)
- Abstract
OBJECTIVE: Despite several studies that have highlighted the harmful effects of alcohol consumption on cognitive functions it remains unclear whether certain brain areas are more sensitive than others are or whether alcohol causes widespread cognitive deficit. Moreover, the role of continued abstinence has yet to be clarified regarding the quality of recovery on the different cognitive domains. The aim of this 1-year longitudinal study was to evaluate the recovery of cognitive deficits in the medium (6 months) and long term (12 months) after the interruption of drinking. METHODS: Forty-one alcohol-dependent patients were recruited from two outpatient treatment facilities and cognitive functions were compared on a control group of forty healthy controls. The patients were then re-assessed at 6 and 12 months. Changes in neuropsychological measures were evaluated with repeated measures analysis of variance (ANOVA). We also compared 1-year follow-up scores with control data (unpaired t tests) to identify tests on which significant differences persisted. RESULTS: Patients performed significantly worse than controls in all cognitive domains investigated and this cognitive impairment was evident in recently abstinent patients. A year of abstinence resulted in a significant improvement in all cognitive domains assessed after detoxification from alcohol. After year 1, alcoholic subjects had returned to normal levels compared to healthy controls on all domains except for general non-verbal intelligence, verbal memory and some visuospatial skills. CONCLUSION: Our results support the hypothesis of widespread impairment resulting from alcohol consumption. The recovery of cognitive functions is not homogeneous during prolonged abstinence.
- Published
- 2018
27. Cognitive markers of psychotic unipolar depression: A meta-analytic study
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Zaninotto, L, Guglielmo, R, Calati, R, Ioime, L, Camardese, G, Janiri, L, Bria, P, Serretti, A, Zaninotto L, Guglielmo R, Calati R, Ioime L, Camardese G, Janiri L, Bria P, Serretti A, Zaninotto, L, Guglielmo, R, Calati, R, Ioime, L, Camardese, G, Janiri, L, Bria, P, Serretti, A, Zaninotto L, Guglielmo R, Calati R, Ioime L, Camardese G, Janiri L, Bria P, and Serretti A
- Abstract
Background: The goal of the current meta-analysis was to review and examine in detail the features of cognitive performance in psychotic (MDDP) versus non-psychotic (MDD) major depressive disorder. Methods: An electronic literature search was performed to find studies comparing cognitive performance in MDDP versus MDD. A meta-analysis of broad cognitive domains (processing speed, reasoning/problem solving, verbal learning, visual learning, attention/working memory) and individual cognitive tasks was conducted on all included studies (n = 12). Demographic and clinical features were investigated via meta-regression analysis as moderators of cognitive performance. Results: No difference in socio-demographic and clinical variables was detected between groups. In general, a poorer cognitive performance was detected in MDDP versus MDD subjects (ES = 0.38), with a greater effect size in drug-free patients (ES = 0.69). MDDP patients were more impaired in verbal learning (ES = 0.67), visual learning (ES = 0.62) and processing speed (ES = 0.71) tasks. A significantly poorer performance was also detected in MDDP patients for individual tasks as Trail Making Test A, WAIS-R digit span backward and WAIS-R digit symbol. Age resulted to have a negative effect on tasks involved in working memory performance. Conclusion: In line with previous meta-analyses, our findings seem to support an association between psychosis and cognitive deficits in the context of affective disorders Psychosis during the course of MDD is associated with poorer cognitive performance in some specific cognitive domains, such as visual and verbal learning and executive functions. (C) 2014 Elsevier B.V. All rights reserved., Background The goal of the current meta-analysis was to review and examine in detail the features of cognitive performance in psychotic (MDDP) versus non-psychotic (MDD) major depressive disorder. Methods An electronic literature search was performed to find studies comparing cognitive performance in MDDP versus MDD. A meta-analysis of broad cognitive domains (processing speed, reasoning/problem solving, verbal learning, visual learning, attention/working memory) and individual cognitive tasks was conducted on all included studies (n=12). Demographic and clinical features were investigated via meta-regression analysis as moderators of cognitive performance. Results No difference in socio-demographic and clinical variables was detected between groups. In general, a poorer cognitive performance was detected in MDDP versus MDD subjects (ES=0.38), with a greater effect size in drug-free patients (ES=0.69). MDDP patients were more impaired in verbal learning (ES=0.67), visual learning (ES=0.62) and processing speed (ES=0.71) tasks. A significantly poorer performance was also detected in MDDP patients for individual tasks as Trail Making Test A, WAIS-R digit span backward and WAIS-R digit symbol. Age resulted to have a negative effect on tasks involved in working memory performance. Conclusion In line with previous meta-analyses, our findings seem to support an association between psychosis and cognitive deficits in the context of affective disorders. Psychosis during the course of MDD is associated with poorer cognitive performance in some specific cognitive domains, such as visual and verbal learning and executive functions.
- Published
- 2015
28. Transcriptional profiling of hepatocytes infected with the replicative form of the malaria parasite Plasmodium cynomolgi
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Gabriel Mitchell, Guglielmo Roma, Annemarie Voorberg-van der Wel, Martin Beibel, Anne-Marie Zeeman, Sven Schuierer, Laura Torres, Erika L. Flannery, Clemens H. M. Kocken, Sebastian A. Mikolajczak, and Thierry T. Diagana
- Subjects
Host response ,Relapsing malaria ,Schizonts ,Hypnozoites ,RNA sequencing ,Liver cells ,Arctic medicine. Tropical medicine ,RC955-962 ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background The zoonotic simian parasite Plasmodium cynomolgi develops into replicating schizonts and dormant hypnozoites during the infection of hepatocytes and is used as a model organism to study relapsing malaria. The transcriptional profiling of P. cynomolgi liver stages was previously reported and revealed many important biological features of the parasite but left out the host response to malaria infection. Methods Previously published RNA sequencing data were used to quantify the expression of host genes in rhesus macaque hepatocytes infected with P . cynomolgi in comparison to either cells from uninfected samples or uninfected bystander cells. Results Although the dataset could not be used to resolve the transcriptional profile of hypnozoite-infected hepatocytes, it provided a snapshot of the host response to liver stage schizonts at 9–10 day post-infection and identified specific host pathways that are modulated during the exo-erythrocytic stage of P. cynomolgi. Conclusions This study constitutes a valuable resource characterizing the hepatocyte response to P. cynomolgi infection and provides a framework to build on future research that aims at understanding hepatocyte-parasite interactions during relapsing malaria infection.
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- 2022
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29. P1272: DEFIBROTIDE IMPACT ON THE ACUTE GRAFT-VERSUS-HOST DISEASE INCIDENCE IN PEDIATRIC HEMATOPOIETIC STEM CELL TRANSPLANT RECIPIENTS.
- Author
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Domenica Squillaci, Annalisa Marcuzzi, Erika Rimondi, Daniela Nistico’, Antimo Tessitore, Guglielmo Riccio, Egidio Barbi, Davide Zanon, and Natalia Maximova
- Subjects
Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2023
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30. P1295: ADVANTAGE OF FIRST-LINE TDM-DRIVEN USE OF INFLIXIMAB FOR TREATING ACUTE INTESTINAL AND LIVER GVHD IN CHILDREN: A PROSPECTIVE, SINGLE-CENTER STUDY.
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Natalia Maximova, Daniela Nistico’, Annalisa Marcuzzi, Erika Rimondi, Antimo Tessitore, Guglielmo Riccio, Egidio Barbi, and Antonello DI Paolo
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2023
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31. Early-Life Fecal Transplantation from High Muscle Yield Rainbow Trout to Low Muscle Yield Recipients Accelerates Somatic Growth through Respiratory and Mitochondrial Efficiency Modulation
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Guglielmo Raymo, Ali Ali, Ridwan O. Ahmed, and Mohamed Salem
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aquaculture ,gut microbe function ,microbiota ,selective breeding ,fillet ,rainbow trout ,Biology (General) ,QH301-705.5 - Abstract
Previous studies conducted in our lab revealed microbial assemblages to vary significantly between high (ARS-FY-H) and low fillet yield (ARS-FY-L) genetic lines in adult rainbow trout. We hypothesized that a high ARS-FY-H donor microbiome can accelerate somatic growth in microbiome-depleted rainbow trout larvae of the ARS-FY-L line. Germ-depleted larvae of low ARS-FY-L line trout reared in sterile environments were exposed to high- or low-fillet yield-derived microbiomes starting at first feeding for 27 weeks. Despite weight-normalized diets, somatic mass was significantly increased in larvae receiving high fillet yield microbiome cocktails at 27 weeks post-hatch. RNA-seq from fish tails reveals enrichment in NADH dehydrogenase activity, oxygen carrier, hemoglobin complex, gas transport, and respiratory pathways in high fillet yield recolonized larvae. Transcriptome interrogation suggests a relationship between electron transport chain inputs and body weight assimilation, mediated by the gut microbiome. These findings suggest that microbiome payload originating from high fillet yield adult donors primarily accelerates juvenile somatic mass assimilation through respiratory and mitochondrial input modulation. Further microbiome studies are warranted to assess how increasing beneficial microbial taxa could be a basis for formulating appropriate pre-, pro-, or post-biotics in the form of feed additives and lead to fecal transplantation protocols for accelerated feed conversion and fillet yield in aquaculture.
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- 2024
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32. Méthode et statistique
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Leuilliot, Paul and Guglielmo, R.
- Published
- 1954
33. Simple Parametric Model for Calculation of Lateral Electromagnetic Loads in Tokamaks at Asymmetric Vertical Displacement Events (AVDE)
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Sergey Sadakov, Fabio Villone, Guglielmo Rubinacci, and Salvatore Ventre
- Subjects
tokamak ,plasma ,asymmetric ,vertical ,event ,parametric ,Physics ,QC1-999 ,Plasma physics. Ionized gases ,QC717.6-718.8 - Abstract
This paper describes a family of relatively simple numerical models for calculation of asymmetric electromagnetic (EM) loads at all tokamak structures and coils at asymmetric vertical plasma displacement events (AVDE). Unlike currently known AVDE studies concentrated on plasma physics, these models have a practical purpose to calculate detailed time-dependent patterns of AVDE-induced EM loads everywhere in the tokamak. They are built to intrinsically assure good-enough EM load balance (opposite net forces and torques for the Vacuum Vessel and the Magnets with zero total for the entire tokamak), as needed for consequent simulation of the tokamak’s dynamic response to AVDE, as well as for the development of tokamak monitoring algorithms and tokamak simulators. To achieve these practical goals, the models work in a manner of parametric study. They do not intervene in details of plasma physics, but run at widely varied input assumptions on AVDE evolution and severity. Their outputs will fill a library of ready-for-use lateral EM loads for multiple variants of AVDE evolution and severity. The tokamak physics community can select any variant from the library, and engineers can pick ready-for-use AVDE loads. Investigated here, EM models represent one already known approach and one newly suggested. The latter attempts to reflect the helical pattern of halo currents in plasma and delivers richer outcomes and, thus, can be preferred as the single practical model for parametric calculations.
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- 2022
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34. Dynamic state machines for modelling railway control systems
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Benerecetti, M., primary, De Guglielmo, R., additional, Gentile, U., additional, Marrone, S., additional, Mazzocca, N., additional, Nardone, R., additional, Peron, A., additional, Velardi, L., additional, and Vittorini, V., additional
- Published
- 2017
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35. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism
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Maria Grazia di Girolamo, Antonella Norma, Massimo Siano, Carla Cozzolino, Roberta Romanelli, Giovanna Gallo, Antonella Ansalone, Cristina Di Stefano, Graziella Corbo, Basilio Malamisura, Generoso Andria, Laura Ingenito, Giovanni Franzese, Giulia Frisso, Paolo Giliberti, Teodoro Stoduto, Silvana Pellecchia, Guglielmo R. D. Villani, Giancarlo Parenti, Francesco Salvatore, Ippolito Pierucci, Ignazio Franzese, Lucia Albano, Giovanni Ippolito, Marianna Caterino, Emanuela Scolamiero, Pietro Mazzeo, Margherita Ruoppolo, Daniela Ombrone, Adriano Durante, Anna Rossi, R. Pecce, Scolamiero, E, Cozzolino, C, Albano, L, Ansalone, A, Caterino, Marianna, Corbo, G, di Girolamo, Mg, Di Stefano, C, Durante, A, Franzese, G, Franzese, I, Gallo, G, Giliberti, P, Ingenito, L, Ippolito, G, Malamisura, B, Mazzeo, P, Norma, A, Ombrone, D, Parenti, Giancarlo, Pellecchia, S, Pecce, R, Pierucci, I, Romanelli, R, Rossi, A, Siano, M, Stoduto, T, Villani, GUGLIELMO ROSARIO DOMENI, Andria, G, Salvatore, F, Frisso, Giulia, and Ruoppolo, Margherita
- Subjects
Male ,medicine.medical_specialty ,Beta-ketothiolase deficiency ,Branched-chain amino acid ,Methylmalonic acidemia ,Physiology ,Homocystinuria ,Biology ,Gas Chromatography-Mass Spectrometry ,chemistry.chemical_compound ,Neonatal Screening ,Metabolomics ,Internal medicine ,medicine ,Humans ,Propionic acidemia ,Molecular Biology ,Newborn screening ,Infant, Newborn ,medicine.disease ,Endocrinology ,chemistry ,Female ,CBLC ,Biomarkers ,Metabolism, Inborn Errors ,Biotechnology - Abstract
Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-products. Many of these disorders have serious clinical consequences for affected neonates, and an early diagnosis allows presymptomatic treatment which can prevent severe permanent sequelae and in some cases death. Expanded newborn screening for these diseases is a promising field of targeted metabolomics. Here we report the application, between 2007 and 2014, of this approach to the identification of newborns in southern Italy at risk of developing a potentially fatal disease. The analysis of amino acids and acylcarnitines in dried blood spots by tandem mass spectrometry revealed 24 affected newborns among 45,466 infants evaluated between 48 and 72 hours of life (overall incidence: 1 : 1894). Diagnoses of newborns with elevated metabolites were confirmed by gas chromatography-mass spectrometry, biochemical studies, and genetic analysis. Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. Seven cases of maternal vitamin B12 deficiency and 1 case of maternal carnitine uptake deficiency were detected. This study supports the widespread application of metabolomic-based newborn screening for these genetic diseases.
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- 2015
36. Mountain tourism facing climate change. Assessing risks and opportunities in the Italian Alps
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Elena Camilla Pede, Giuliana Barbato, Alessandra Buffa, Marta Ellena, Paola Mercogliano, Guglielmo Ricciardi, and Luca Staricco
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climate change ,european alps ,tourism ,risk ,seasonality ,vulnerability ,Transportation engineering ,TA1001-1280 ,Urbanization. City and country ,HT361-384 - Abstract
The Alps are an interesting case for studying the relationship between tourism and climate change. Despite a growing number of studies, the climate change impacts on the tourism sector remain uncertain, when the regional and local scale or seasonality are considered. This article presents a risk methodology to assess the spatial distribution of the main challenges and opportunities for winter and summer tourism due to climate change at the sub-regional level on a 2021-2050 scenario. This methodology has been tested on an Italian Alpine area, which consists of very different landscapes from plain to high mountains. The results show that high-altitude municipalities will face the stronger risks for winter touristic activities, due to reduced snow cover duration, but also opportunities to attract in summer tourists escaping from the hotter temperatures of the plain. At the same time, climate change could have secondary negative effects in these areas, as it will increase the frequency and the magnitude of extreme events. The results show that impacts of CC cannot be generalised, even in a limited area; same hazards due to changes in temperature and precipitation patterns can generate very different risk scores, because of local conditions related to exposure and vulnerability factors.
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- 2022
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37. An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion
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Caroline Gubser Keller, Youngah Shin, Alex Mas Monteys, Nicole Renaud, Martin Beibel, Natalia Teider, Thomas Peters, Thomas Faller, Sophie St-Cyr, Judith Knehr, Guglielmo Roma, Alejandro Reyes, Marc Hild, Dmitriy Lukashev, Diethilde Theil, Natalie Dales, Jang-Ho Cha, Beth Borowsky, Ricardo Dolmetsch, Beverly L. Davidson, and Rajeev Sivasankaran
- Subjects
Science - Abstract
Huntington’s disease (HD) results from the abnormal expansion of CAG repeats in exon 1 of the HTT gene. Here, the authors show that orally available, brain penetrant molecule branaplam lowers HTT transcript by promoting inclusion of a poison exon or pseudoexon.
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- 2022
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38. An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene
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Stefano Bruni, Giovanni V. Coppa, Paola Di Natale, Orazio Gabrielli, Gianfranco Pontarelli, Guglielmo R. D. Villani, O., Gabrielli, G. V. COPPA G., V., S., Bruni, Villani, GUGLIELMO ROSARIO DOMENI, G., Pontarelli, and DI NATALE, Paola
- Subjects
Adult ,medicine.medical_specialty ,Hydrolases ,Somatic cell ,Mucopolysaccharidosis ,Mutation, Missense ,Disease ,Gene mutation ,Biology ,Genetic analysis ,Mucopolysaccharidosis III ,chemistry.chemical_compound ,Intellectual Disability ,Internal medicine ,Genetics ,medicine ,Humans ,Gene ,Genetics (clinical) ,Homozygote ,Heparan sulfate ,medicine.disease ,Endocrinology ,chemistry ,Female - Abstract
The Sanfilippo type A syndrome, one of the most frequent forms of mucopolysaccharidosis III, is characterized by severe mental retardation, progressive neurological degeneration, and mild somatic changes. It is due to a deficiency of heparan-N-sulfatase (sulfamidase) activity and consequent excretion of heparan sulfate in the urine. The disease is transmitted through an autosomal recessive mechanism, and more than 60 gene mutations have been identified. Up to now, only 10 cases of attenuated form of Sanfilippo type A syndrome have been described, and the specific mutation has been identified only in two of them. We report here on a female patient, 20 years old, with Sanfilippo type A syndrome presenting with a mild clinical phenotype characterized essentially by a moderate nonevolving mental retardation. The genetic analysis demonstrated that the patient is homozygous for mutation R206P; presence of polymorphism R456H was also found. This study places R206P as a mild mutation underlying Sanfilippo type A disease.
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- 2005
39. Analysis of Sanfilippo A gene mutations in a large pedigree
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Andrea Bartuli, C. Di Domenico, Aurora Daniele, P. Di Natale, C. Dionisi Vici, and Guglielmo R. D. Villani
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Genetics ,Mutation ,Disease ,Biology ,medicine.disease_cause ,Phenotype ,Genetic analysis ,Genetic determinism ,medicine ,Missense mutation ,Gene ,Mucopolysaccharidosis Type IIIA ,Genetics (clinical) - Abstract
Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been described underlying this lysosomal disorder. Expression studies on missense mutations have shown that each alteration was disease-causing and helped to clarify the genotype-phenotype correlation. In this report we describe a large pedigree where the mutations have been identified in two second cousins: one with severe disease (E369K/R433Q) and the other with a mild form of the illness (E369K/P128L). This study places R433Q as a severe mutation underlying Sanfilippo A disease.
- Published
- 2003
40. Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer
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Paola Di Natale, Guglielmo R. D. Villani, Antonia Follenzi, Borghina Vanacore, Carmela Di Domenico, Luigi Naldini, Villani, GUGLIELMO ROSARIO DOMENI, Follenzi, A., Vanacore, B., DI DOMENICO, C., Naldini, L., DI NATALE, P., Villani, Grd, Follenzi, A, Vanacore, B, di Domenico, C, Naldini, Luigi, and di Natale, P.
- Subjects
Somatic cell ,Virus Integration ,Genetic Vectors ,Biology ,Sulfur Radioisotopes ,Polymerase Chain Reaction ,Biochemistry ,Virus ,Viral vector ,Glycosaminoglycan ,Mucopolysaccharidosis III ,Transduction (genetics) ,Transduction, Genetic ,Complementary DNA ,Acetylglucosaminidase ,medicine ,Humans ,Molecular Biology ,Gene ,Cells, Cultured ,DNA Primers ,Sanfilippo syndrome ,Lentivirus ,Gene Transfer Techniques ,Genetic Therapy ,Cell Biology ,Fibroblasts ,medicine.disease ,Virology ,Molecular biology ,Recombinant Proteins ,Kinetics ,Research Article - Abstract
Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo syndrome type B) is a lysosomal disease, due to glycosaminoglycan storage caused by mutations on the α-N-acetylglucosaminidase (NAGLU) gene. The disease is characterized by neurological dysfunction but relatively mild somatic manifestations. No effective treatment is available for affected patients. In the present study, we evaluated the role of a lentiviral vector as the transducing agent of NAGLU cDNA in MPS IIIB fibroblasts. The vector expressed high transduction efficiency and high levels of enzymic activity, 20-fold above normal levels, persisting for at least 2 months. PCR experiments confirmed the integration of the viral vector into the target genome. The NAGLU activity restored by virus infection was sufficient to normalize glycosaminoglycan accumulation, which is directly responsible for the disease phenotype. Metabolic labelling experiments on transduced fibroblasts exhibited, in the medium and in cellular lysates, polypeptide forms of 84 and 80kDa respectively related to the precursor and mature forms of the enzyme. The enzyme secreted by transduced MPS IIIB fibroblasts was endocytosed in deficient cells by the mannose 6-phosphate system. Thus we show that lentiviral vectors may provide a therapeutic approach for the treatment of MPS IIIB disease.
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- 2002
41. In vitrogene therapy of mucopolysaccharidosis type I by lentiviral vectors
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Luigi Naldini, Angelo Lombardo, Carmela Di Domenico, Guglielmo R. D. Villani, Paola Di Natale, and Antonia Follenzi
- Subjects
education.field_of_study ,Genetic enhancement ,Population ,Biology ,medicine.disease ,Biochemistry ,Virology ,Molecular biology ,In vitro ,Viral vector ,Mucopolysaccharidosis type I ,Transduction (genetics) ,In vivo ,medicine ,Hurler syndrome ,education - Abstract
Mucopolysaccharidosis type I (MPS I) results from a deficiency in the enzyme alpha-L-iduronidase (IDUA), and is characterized by skeletal abnormalities, hepatosplenomegaly and neurological dysfunction. In this study, we used a late generation lentiviral vector to evaluate the utility of this vector system for the transfer and expression of the human IDUA cDNA in MPS I fibroblasts. We observed that the level of enzyme expression in transduced cells was 1.5-fold the level found in normal cells; the expression persisted for at least two months. In addition, transduced MPS I fibroblasts were capable of clearing intracellular radiolabeled glycosaminoglycan (GAG). Pulse-chase experiments on transduced fibroblasts showed that the recombinant enzyme was synthesized as a 76-kDa precursor form and processed to a 66-kDa mature form; it was released from transduced cells and was endocytosed into a second population of untreated MPS I fibroblasts via a mannose 6-phosphate receptor. These results suggest that the lentiviral vector may be used for the delivery and expression of the IDUA gene to cells in vivo for treatment of MPS I.
- Published
- 2002
42. Intranasal dexmedetomidine and intranasal ketamine association allows shorter induction time for pediatric sedation compared to intranasal dexmedetomidine and oral midazolam
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Francesca Cossovel, Andrea Trombetta, Augusto Ramondo, Guglielmo Riccio, Luca Ronfani, Alessia Saccari, Giorgio Cozzi, and Egidio Barbi
- Subjects
Pediatric procedural sedation ,Intranasal dexmedetomidine ,Intranasal ketamine ,Oral midazolam ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Non-painful diagnostic procedures require an inactive state for a prolonged time, so that sedation is often needed in younger children to perform the procedures. Our standard of care in this setting consists of the association between oral midazolam (0.5 mg/kg) and intranasal dexmedetomidine (4 mcg/kg). One of the limits of this approach is that the onset of action is quite delayed (up to 55 min) and poorly predictable. We chose to compare this association with intranasal-ketamine and intranasal-dexmedetomidine. Methods This is a “pre-post” study. The study population included the first forty children receiving sedation with the “new” combination intranasal ketamine (3 mg/kg) and intranasal dexmedetomidine (4 mcg/kg) compared to a historical cohort including the last forty children receiving sedation with our standard of care combination of intranasal dexmedetomidine (4mcg/kg) and oral midazolam (0,5 mg/kg). Results The association intranasal dexmedetomidine and intranasal ketamine allowed for a significantly shorter sedation induction time than the combination intranasal dexmedetomidine and oral midazolam (13,5 min versus 35 min). Both group’s cumulative data showed a correlation between age and sedation effectiveness, with younger children presenting a higher success rate and shorter induction time (p 0,001). Conclusions: This study suggests that the ketamine and dexmedetomidine intranasal association may have a shorter onset of action when compared to intranasal dexmedetomidine and oral midazolam.
- Published
- 2022
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43. Climate change adaptation cycle for pilot projects development in small municipalities: The northwestern Italian regions case study
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Guglielmo Ricciardi, Marta Ellena, Giuliana Barbato, Giuseppe Giugliano, Pasquale Schiano, Sara Leporati, Claudia Traina, and Paola Mercogliano
- Subjects
Adaptation ,Climate change ,Italy ,Small municipalities ,Trans-regional ,Urban planning ,Environmental sciences ,GE1-350 ,Urban groups. The city. Urban sociology ,HT101-395 - Abstract
More than half of the European population live in small and medium size municipalities, where climate adaptation planning is an under-researched topic within the climate change field. Many constraints might hinder the implementation of adaptation pilot projects due to lack of economic, knowledge, and technical available resources. Local institutions find difficulties in building a coherent local adaptation planning and design processes with international and national frameworks. In this context, this article proposes a methodology based on the available international frameworks to support the small communities with the aim to implement adaptation pilot projects within different sectors. In doing so, this paper tests a climate change adaptation cycle for pilot projects development in small municipalities; the first in Italy for small municipalities under 20.000 inhabitants. The proposed methodology could lead local adaptation initiatives in climate change risk assessment by supporting the research communities in developing a coherent vision for the local territories and to identify proper oriented measures to enhance demonstrative pilot projects and to increase the level of resilience in small municipalities, avoiding maladaptation.
- Published
- 2023
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44. Presentazione - Le potenzialità nel settore del micro e mini idroelettrico nell’ambito degli schemi irrigui, per la produzione di energia elettrica da fonte rinnovabile
- Author
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Nino, Pasquale, Fabiani, Stefano, Montrone, Luciano, Tascone, Fabrizio L., and Raimondi, Guglielmo R.
- Published
- 2014
- Full Text
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45. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
- Author
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Mirella Filocamo, Guglielmo R. D. Villani, Paola Di Natale, Gloria Bonuccelli, Stefano Regis, Fabio Corsolini, Bonuccelli, G., DI NATALE, P., Corsolini, F., Villani, GUGLIELMO ROSARIO DOMENI, Regis, S., and Filocamo, M.
- Subjects
DNA, Complementary ,Enzyme function ,Iduronate-2-sulfatase ,Immunoblotting ,Locus (genetics) ,Western blot ,Iduronate Sulfatase ,Biology ,Transfection ,Mucopolysaccharidosis type II ,medicine ,Missense mutation ,Animals ,Humans ,Molecular Biology ,Mucopolysaccharidosis II ,Genetics ,chemistry.chemical_classification ,medicine.diagnostic_test ,Hunter syndrome ,Transient expression ,medicine.disease ,Molecular biology ,Enzyme ,chemistry ,COS Cells ,Mutation ,Mutagenesis, Site-Directed ,Molecular Medicine ,COS cell - Abstract
Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13). Different alterations at the IDS locus, mostly missense mutations, have been demonstrated, by expression study, as deleterious, causing significant consequences on the enzyme function or stability. In the present study we report on the results of the transient expression of the novel K347T, 533delTT, N265I and the already described 473delTCC (previously named ΔS117) mutations in the COS 7 cells proving their functional consequence on IDS activity. This type of information is potentially useful for genotype–phenotype correlation, prognosis and possible therapeutic intervention.
- Published
- 2001
- Full Text
- View/download PDF
46. Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
- Author
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Rosanna Gatti, Alessandra Tessitore, Paola Di Natale, Carmela Di Domenico, Guglielmo R. D. Villani, Mirella Filocamo, Tessitore, A., Villani, GUGLIELMO ROSARIO DOMENI, DI DOMENICO, C., Filocamo, M., Gatti, R., and DI NATALE, P.
- Subjects
RNA Splicing ,DNA Mutational Analysis ,Biology ,medicine.disease_cause ,Frameshift mutation ,Mucopolysaccharidosis III ,Exon ,Acetylglucosaminidase ,Genetics ,medicine ,Animals ,Humans ,Missense mutation ,Gene ,Alleles ,Cells, Cultured ,Genetics (clinical) ,Sanfilippo syndrome ,Mutation ,Intron ,medicine.disease ,Molecular biology ,COS Cells ,RNA splicing - Abstract
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). We performed mutation screening in a group of 20 patients, identyifing 28 mutations, 14 of which were novel (L35F, 204delC, 221insGCGCG, G82D, W156C, 507delC, IVS3+1G--A, E336X, V501G, R520W, S534Y, W649C, 1953insGCCA, 2185delAGA). Four of these mutations were found in homozygosity and only one was seen in two different patients, showing the remarkable molecular heterogeneity of the disease. Mutation IVS3+1G--A produces aberrant RNA splicing: it represents a base substitution from G to A of the invariant GT dinucleotides at the splicing donor site of intron 3 resulting in the skipping of exon 3 and both exons 2 and 3. Transient transfection of COS cells, by DNA mutagenized with NAGLU mutations, produced enzymatic molecules without activity, demonstrating the deleterious nature of the defects. Metabolic labeling of transfected mutants suggested a normal synthesis of the involved polypeptide for missense alterations, whereas increased protein or mRNA instability was shown for nonsense and most of the frameshift mutations.
- Published
- 2000
47. Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects
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Kelly J. Perkins, Guglielmo R. D. Villani, Sabrina Esposito, John J. Hopwood, Birgit Weber, Paola Di Natale, Nicola Balzano, Aurora Daniele, Esposito, Sabrina, Balzano, N, Daniele, Aurora, Villani, Gr, Perkins, K, Weber, B, Hopwood, Jj, and DI NATALE, P.
- Subjects
DNA, Complementary ,Mucopolysaccharidosis ,Blotting, Western ,Mutant ,Gene Expression ,Biology ,Sanfilippo syndrome type A ,Transfection ,medicine.disease_cause ,Mucopolysaccharidosis III ,chemistry.chemical_compound ,Western blot ,Gene expression ,medicine ,Animals ,Humans ,Mucopolysaccharidosis IIIA ,Fluorescent Antibody Technique, Indirect ,Molecular Biology ,chemistry.chemical_classification ,Mutation ,Binding Sites ,Polymorphism, Genetic ,COS cells ,medicine.diagnostic_test ,Reverse Transcriptase Polymerase Chain Reaction ,Heparan N-sulfatase ,Mutation analysi ,Transient expression ,Heparan sulfate ,medicine.disease ,Molecular biology ,Mutation analysis ,Enzyme ,Italy ,chemistry ,Biochemistry ,COS Cells ,Mutagenesis, Site-Directed ,Molecular Medicine ,Sulfatases - Abstract
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of the enzyme heparan N-sulfatase (NS, EC 3.10.1.1), required for the degradation of heparan sulfate. Molecular defects of 24 Italian MPS IIIA patients were recently reported by our group. We report here two novel mutations: 1040insT and Q365X and the expression studies on 15 of the identified defects. Transient expression of COS cells by cDNA mutagenized to correspond to heparan N-sulfatase mutations Y40N, A44T, 166delG, G122R, P128L, L146P, R150Q, D179N, R182C, R206P, P227R, 1040insT, 1093insG, E369K, R377C did not yield active enzyme, demonstrating the deleterious nature of the mutations. Western blot analysis and metabolic labeling experiments revealed, for cells transfected with wild-type enzyme, a precursor 62-kDa form and a mature 56-kDa form. Western blot resulted, for 11 mutations, in the presence of both forms, indicating a normal maturation of the mutant enzyme. Western blot, metabolic labeling and immunofluorescence experiments suggested, for mutations 166delG, L146P, 1040insT and 1093insG, an increased degradation of the mutant enzymes. (C) 2000 Published by Elsevier Science B.V.
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- 2000
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48. Maroteaux–Lamy syndrome: five novel mutations and their structural localization
- Author
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Nicola Balzano, Guglielmo R. D. Villani, D. Vitale, P. Di Natale, Michele Saviano, Vincenzo Pavone, Villani, GUGLIELMO ROSARIO DOMENI, Balzano, N., Vitale, D., Saviano, M., Pavone, Vincenzo, and DI NATALE, P.
- Subjects
Models, Molecular ,Arylsulfatase B ,Protein Folding ,N-Acetylgalactosamine-4-Sulfatase ,Mucopolysaccharidosis type VI ,Biology ,medicine.disease_cause ,medicine ,Humans ,Point Mutation ,Child ,Molecular Biology ,Polymorphism, Single-Stranded Conformational ,Genetics ,Mutation ,Binding Sites ,Mucopolysaccharidosis VI ,Genetic heterogeneity ,Point mutation ,Infant ,Exons ,medicine.disease ,Molecular biology ,Maroteaux–Lamy syndrome ,Restriction enzyme ,Mutation analysis ,Mutation testing ,Molecular Medicine - Abstract
Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). Mutation analysis in Maroteaux–Lamy syndrome resulted in the identification of approximately 40 molecular defects underlying a great genetic heterogeneity. Here we report five novel mutations in Italian subjects: S65F, P116H, R315Q, Q503X, P531R; each defect was confirmed by restriction enzyme or amplification refractory mutation system (ARMS) analysis. We also performed a three-dimensional (3-D) structure analysis of the alterations identified by us, and of an additional 22 point mutations reported by other groups, in an attempt to draw helpful information about their possible effects on protein conformation.
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- 1999
49. Co-occurrence of alcohol use disorder and behavioral addictions: relevance of impulsivity and craving
- Author
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Di Nicola, M, Tedeschi, D, De Risio, L, Pettorruso, M, Martinotti, G, Ruggeri, F, Swierkosz Lenart, K, Guglielmo, R, Callea, A, Ruggeri, G, Pozzi, Gino, Di Giannantonio, M, Janiri, Luigi, Pozzi, Gino (ORCID:0000-0001-5227-7974), Janiri, Luigi (ORCID:0000-0002-1633-9418), Di Nicola, M, Tedeschi, D, De Risio, L, Pettorruso, M, Martinotti, G, Ruggeri, F, Swierkosz Lenart, K, Guglielmo, R, Callea, A, Ruggeri, G, Pozzi, Gino, Di Giannantonio, M, Janiri, Luigi, Pozzi, Gino (ORCID:0000-0001-5227-7974), and Janiri, Luigi (ORCID:0000-0002-1633-9418)
- Abstract
The aims of the study were to evaluate the occurrence of behavioral addictions (BAs) in alcohol use disorder (AUD) subjects and to investigate the role of impulsivity, personality dimensions and craving.
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- 2015
50. Topiramate in Alcohol Use Disorders: Review and Update
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Guglielmo, R, Martinotti, G, Quatrale, M, Ioime, L, Kadilli, I, Di Nicola, M, Janiri, Luigi, Janiri, Luigi (ORCID:0000-0002-1633-9418), Guglielmo, R, Martinotti, G, Quatrale, M, Ioime, L, Kadilli, I, Di Nicola, M, Janiri, Luigi, and Janiri, Luigi (ORCID:0000-0002-1633-9418)
- Abstract
To date, a limited number of pharmacological agents exist to treat alcohol use disorders (AUDs), and there is growing interest in new therapeutic tools. In this framework, topiramate may represent a useful treatment option, although its use is not yet approved for AUDs. The main focus of this review is to discuss all the existing data supporting the use of topiramate in AUDs, with an emphasis on the most recent and relevant clinical implications. In addition, the profile of the alcoholic patient who may benefit more from the use of topiramate is outlined. In this regard, the authors conducted a PubMed search of clinical human studies published in English using the following key words: topiramate alcohol dependence, topiramate alcohol withdrawal and topiramate alcoholism. The evidence suggests that topiramate could be an effective treatment option for the management of AUDs, while there are limited results for its use to treat alcohol withdrawal syndrome. In particular, topiramate shows a greater beneficial effect in subjects with a typology of craving characterised by drinking obsessions and automaticity of drinking. Topiramate, within the dosage range of 75-300 mg/day, could be considered as a first-line treatment option for the management of AUDs. Its use appears to be safe and well-tolerated, especially in light of very recent findings.
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- 2015
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