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187 results on '"DELLA CASA, ROBERTO"'

2. microRNAs as biomarkers in Pompe disease

Author

Tarallo, Antonietta, Carissimo, Annamaria, Gatto, Francesca, Nusco, Edoardo, Toscano, Antonio, Musumeci, Olimpia, Coletta, Marcella, Karali, Marianthi, Acampora, Emma, Damiano, Carla, Minopoli, Nadia, Fecarotta, Simona, Della Casa, Roberto, Mongini, Tiziana, Vercelli, Liliana, Santoro, Lucio, Ruggiero, Lucia, Deodato, Federica, Taurisano, Roberta, Bembi, Bruno, Dardis, Andrea, Banfi, Sandro, Pijnappel, WW Pim, van der Ploeg, Ans T, and Parenti, Giancarlo

Published
2019
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4. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib

Author

Melis, Daniela, Minopoli, Giorgia, Balivo, Francesca, Marcolongo, Paola, Parini, Rossella, Paci, Sabrina, Dionisi-Vici, Carlo, Della Casa, Roberto, Benedetti, Angelo, Andria, Generoso, Parenti, Giancarlo, Morava, Eva, editor, Baumgartner, Matthias, editor, Patterson, Marc, editor, Rahman, Shamima, editor, Zschocke, Johannes, editor, and Peters, Verena, editor

Published
2016
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7. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Author

Ditters, Imke Anne Maartje, primary, Huidekoper, Hidde Harmen, additional, Kruijshaar, Michelle Elisabeth, additional, Rizopoulos, Dimitris, additional, Hahn, Andreas, additional, Mongini, Tiziana Enrica, additional, Labarthe, François, additional, Tardieu, Marine, additional, Chabrol, Brigitte, additional, Brassier, Anais, additional, Parini, Rossella, additional, Parenti, Giancarlo, additional, van der Beek, Nadine Anna Maria Elisabeth, additional, van der Ploeg, Ans Tjitske, additional, van den Hout, Johanna Maria Pieternel, additional, Mengel, Eugen, additional, Hennermann, Julia, additional, Smitka, Martin, additional, Muschol, Nicole, additional, Marquardt, Thorsten, additional, Marquardt, Martina, additional, Thiels, Charlotte, additional, Spada, Marco, additional, Pagliardini, Veronica, additional, Menni, Francesca, additional, della Casa, Roberto, additional, Deodato, Federica, additional, Gasperini, Serena, additional, Burlina, Alberto, additional, Donati, Alice, additional, Pichard, Samia, additional, Feillet, François, additional, Huet, Fréderic, additional, Mention, Karine, additional, Eyer, Didier, additional, Kuster, Alice, additional, Espil Taris, Caroline, additional, Lefranc, Jérémie, additional, Barth, Magalie, additional, Bruel, Henri, additional, Chevret, Laurent, additional, Pitelet, Gaele, additional, Pitelet, Catherine, additional, Rivier, François, additional, and Dobbelaere, Dries, additional

Published
2022
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9. Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study.

Author

Cenzato, Francesca, Milani, Gregorio P., Amigoni, Angela, Sperotto, Francesca, Bianchetti, Mario G., Agostoni, Carlo, Montini, Giovanni, on behalf of the ItaUTI study group, Farello, Giovanni, Chiarelli, Francesco, Greco, Rita, Di Lollo, Franco, Rocco Forte, Fabio, Manieri, Sergio, Carpino, Luigi, Caloiero, Mimma, Cirisano, Anastasia, Braghò, Salvatore, Della Casa, Roberto, and Nunziata, Felice

Abstract

Urinary tract infections (UTIs) are among the most frequent bacterial diseases in infants and children. Physician adherence to recommendations is notoriously often poor, but no data are available on UTIs management in the emergency setting. In this multicenter national study, we investigated the policies regarding UTIs management in children aged 2 months to 3 years in Italian emergency units. Between April and June 2021, directors of the emergency units were invited to answer an online survey on the following items: diagnostic approach to children with fever without an apparent source, therapeutic approach to UTIs, the use of kidney and urinary tract ultrasound, and the criteria for hospitalization. A total of 121 (89%) out of 139 of invited units participated in the study. Overall, units manage children with a suspected or confirmed UTI according to available recommendations for most of the items. However, in almost 80% (n = 94) of units, a sterile perineal bag is used to collect urine for culture. When urine is collected by cathether, heterogeneity exists on the threshold of bacterial load considered for UTI diagnosis. Conclusions: Available recommendations on UTIs in children are followed by Italian emergency units for most of the items. However, the methods to collect urine specimens for culture, one of the crucial steps of the diagnostic work-up, often do not align with current recommendations and CFU thresholds considered for diagnosis largely vary among centers. Efforts should be addressed to validate and implement new child and family friendly urine collection techniques. What is Known: • Several guidelines are published on the management of children with suspected or confirmed urinary tract infection. • No data are available on the management of pediatric urinary tract infections in the emergency setting. What is New: • Almost 80% of the Italian emergency units employ a sterile perineal bag to collect urine for culture. • Diagnostic CFU thresholds largely vary among centers. [ABSTRACT FROM AUTHOR]

Published
2022
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13. The cardiologist and mucopolysaccharidosis. Recommendations of the GICEM (Italian Group of Cardiologists Experienced Metabolic Diseases) on diagnosis, follow-up and cardiological management

Author

Russo, Pierluigi, Andria, Generoso, Baldinelli, Alessandra, Boffi, Maria Lucia, Cerini, Emma, Della Casa, Roberto, Imperatori, Andrea, Luciani, Giovanni Battista, Morra, Elisa, Parini, Rossella, Pieroni, Maurizio, Prioli, Maria Antonia, Ragni, Luca, Rapezzi, Claudio, Rinelli, Gabriele, Rubino, Marta, Sarais, Cristiano, Sciacca, Pietro, Seddio, Francesco, Limongelli, Giuseppe, Russo, Pierluigi, Andria, Generoso, Baldinelli, Alessandra, Boffi, Maria Lucia, Cerini, Emma, Della Casa, Roberto, Imperatori, Andrea, Luciani, Giovanni Battista, Morra, Elisa, Parini, Rossella, Pieroni, Maurizio, Prioli, Maria Antonia, Ragni, Luca, Rapezzi, Claudio, Rinelli, Gabriele, Rubino, Marta, Sarais, Cristiano, Sciacca, Pietro, Seddio, Francesco, and Limongelli, Giuseppe

Abstract

Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS. In this paper, we report our experience and recommendations on the diagnosis and management of cardiovascular aspects in MPS, with a tailored approach based on current evidence, and taking into account MPS phenotype (particularly, I, II, IVa, VI), age at presentation, and severity of systemic and cardiac manifestations.

Published
2017

15. Correction: Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study.

Author

Cenzato, Francesca, Milani, Gregorio P., Amigoni, Angela, Sperotto, Francesca, Bianchetti, Mario G., Agostoni, Carlo, Montini, Giovanni, on behalf of the ItaUTI study group, Farello, Giovanni, Chiarelli, Francesco, Greco, Rita, Di Lollo, Franco, Rocco Forte, Fabio, Manieri, Sergio, Carpino, Luigi, Caloiero, Mimma, Cirisano, Anastasia, Braghò, Salvatore, Della Casa, Roberto, and Nunziata, Felice

Abstract

A correction is presented to the article "Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study" which appeared in the June 16, 2022 issue.

Published
2022
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17. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Author

Parini, R, De Lorenzo, P, Dardis, A, Burlina, A, Cassio, A, Cavarzere, P, Concolino, D, Della Casa, R, Deodato, F, Donati, M, Fiumara, A, Gasperini, S, Menni, F, Pagliardini, V, Sacchini, M, Spada, M, Taurisano, R, Valsecchi, M, Di Rocco, M, Bembi, B, Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, Agata, Gasperini, Serena, Menni, Francesca, Pagliardini, Veronica, Sacchini, Michele, Spada, Marco, Taurisano, Roberta, Valsecchi, Maria Grazia, Di Rocco, Maja, Bembi, Bruno, Parini, R, De Lorenzo, P, Dardis, A, Burlina, A, Cassio, A, Cavarzere, P, Concolino, D, Della Casa, R, Deodato, F, Donati, M, Fiumara, A, Gasperini, S, Menni, F, Pagliardini, V, Sacchini, M, Spada, M, Taurisano, R, Valsecchi, M, Di Rocco, M, Bembi, B, Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, Agata, Gasperini, Serena, Menni, Francesca, Pagliardini, Veronica, Sacchini, Michele, Spada, Marco, Taurisano, Roberta, Valsecchi, Maria Grazia, Di Rocco, Maja, and Bembi, Bruno

Abstract

Background: Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. At the same time limited data are available on the long-term treatment in CRIM-positive infants. Methods: A retrospective multicentre observational study was designed to analyse the long-term effectiveness of ERT in IOPD. Thirteen Italian centres spread throughout the country were involved and a cohort of 28 patients (15 females, 13 males, born in the period: February 2002-January 2013) was enrolled. IOPD diagnosis was based on clinical symptoms, enzymatic and molecular analysis. All patients received ERT within the first year of life. Clinical, laboratory, and functional data (motor, cardiac and respiratory) were collected and followed for a median period of 71 months (5 years 11 months). Results: Median age at onset, diagnosis and start of ERT were 2, 3 and 4 months, respectively. CRIM status was available for 24/28 patients: 17/24 (71%) were CRIM-positive. Nineteen patients (67%) survived > 2 years: 4 were CRIM-negative, 14 CRIM-positive and one unknown. Six patients (5 CRIM-positive and one unknown) never needed ventilation support (21,4%) and seven (6 CRIM-positive and one unknown: 25%) developed independent ambulation although one subsequently lost this function. Brain imaging study was performed in 6 patients and showed peri-ventricular white matter abnormalities in all of them. Clinical follow-up confirmed the better prognosis for CRIM-positive patients, though a slow, progressive worsening of motor and/or respiratory functions was detected in 8 patients. Conclusions: These data are the result of the longest independent retrospective study on ERT in IOPD reported so far outside clinical

Published
2018

18. [Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management]

Author

Russo, Pierluigi, Andria, Generoso, Baldinelli, Alessandra, Boffi, Maria Lucia, Cerini, Emma, Della Casa, Roberto, Imperatori, Andrea, Luciani, Giovanni Battista, Morra, Elisa, Parini, Rossella, Pieroni, Maurizio, Prioli, Maria Antonia, Ragni, Luca, Rapezzi, Claudio, Rinelli, Gabriele, Rubino, Marta, Sarais, Cristiano, Sciacca, Pietro, Seddio, Francesco, and Limongelli, Giuseppe

Subjects
Mucopolysaccharidosis, cardiology, cardiac surgery, Heart Diseases, cardiology, Humans, Mucopolysaccharidoses, cardiac surgery, Mucopolysaccharidosis, Follow-Up Studies
Abstract

Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS. In this paper, we report our experience and recommendations on the diagnosis and management of cardiovascular aspects in MPS, with a tailored approach based on current evidence, and taking into account MPS phenotype (particularly, I, II, IVa, VI), age at presentation, and severity of systemic and cardiac manifestations.

Published
2017

22. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Author

Parini, Rossella, primary, De Lorenzo, Paola, additional, Dardis, Andrea, additional, Burlina, Alberto, additional, Cassio, Alessandra, additional, Cavarzere, Paolo, additional, Concolino, Daniela, additional, Della Casa, Roberto, additional, Deodato, Federica, additional, Donati, Maria Alice, additional, Fiumara, Agata, additional, Gasperini, Serena, additional, Menni, Francesca, additional, Pagliardini, Veronica, additional, Sacchini, Michele, additional, Spada, Marco, additional, Taurisano, Roberta, additional, Valsecchi, Maria Grazia, additional, Di Rocco, Maja, additional, and Bembi, Bruno, additional

Published
2018
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23. Management of otolaryngological manifestations in the mucopolysaccaridoses: our experience

Author

MESOLELLA, MASSIMO, M. Cimmino, E. Cantone, A. Marino, M. Cozzolino, DELLA CASA, ROBERTO, G. Parenti, IENGO, MAURIZIO, Mesolella, Massimo, Cimmino, M., Cantone, E., Marino, A., Cozzolino, M., DELLA CASA, Roberto, Parenti, G., and Iengo, Maurizio

Abstract

Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by deficiency of enzymes involved in the degradation of glycosaminoglycans (GAGs). These disorders are associated with the accumulation of GAGs in tissues with organomegaly, mental retardation and short stature. Otologic and upper respiratory tract pathologies are among the earliest clinical manifestations. We analyzed 20 patients (13 male and 7 female, median age at the beginning of the observation 6 years) with MPS (35% type I, 30% type II, 20% type III, 5% type IV, 10% type VI), focusing on their otorhinolaryngologic problems and the impact of surgery on quality of life. We found ear, nose and throat manifestations in all types of MPS; in particular, recurrent otitis media was present in 30% of cases, hearing loss in 75% (mixed in 43.33%, conductive in 43.33%, sensorineural in 13.33%), adenotonsillar hypertrophy in 75%, frequent infections of the upper airway in 75% and obstructive sleep apnoea syndrome in 45% of cases. Fifty percent of patients required surgical therapy (adenotonsillectomy, adenoidectomy with insertion of middle ear ventilation tubes, tonsillectomy, tracheotomy and exeresis of vocal cord polyps). In our experience the ENT surgery reduced the frequency and severity of ear infections and relieved symptoms related to upper airway obstruction, thereby improving the quality of life in affected patients.

Published
2013

27. Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ?

Author

GINOCCHIO, virginia maria, CAPPUCCIO, GERARDA, ACAMPORA, ELENA, DELLA CASA, ROBERTO, ANDRIA, GENEROSO, MELIS, DANIELA, Minopoli G., Boemio P., Gagliardo C., Piemontese M. R., Zelante L., Ginocchio, virginia maria, Cappuccio, Gerarda, Minopoli, G., Boemio, P., Gagliardo, C., Acampora, Elena, Piemontese, M. R., Zelante, L., DELLA CASA, Roberto, Andria, Generoso, and Melis, Daniela

Published
2011

29. Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b

Author

MELIS, DANIELA, DELLA CASA, ROBERTO, CACCIAPUOTI, CARMELA, ANDRIA, GENEROSO, PARENTI, GIANCARLO, Parini R, Rigoldi M, Marcolongo P, Benedetti A, Gaudieri V, Melis, Daniela, DELLA CASA, Roberto, Parini, R, Rigoldi, M, Cacciapuoti, Carmela, Marcolongo, P, Benedetti, A, Gaudieri, V, Andria, Generoso, and Parenti, Giancarlo

Abstract

BACKGROUND: Neutropenia and/or neutrophil dysfunction are part of glycogen storage disease type 1b (GSD1b) phenotype. Recent studies indicated that activation of apoptosis and increased reactive oxygen species are implicated in the pathogenesis of neutropenia in GSD1b. METHODS: We studied seven GSD1b patients over a 2-year-period to evaluate the efficacy of vitamin E, a known antioxidant, in preventing or improving the clinical manifestations associated with neutropenia and neutrophil dysfunction. Frequency and severity of infections, neutrophil counts and function, ileocolonoscopy and intestinal histology, were monitored. During the first year, patients did not assume vitamin E; during the second year of the study, vitamin E supplementation was added to their therapeutic regimens. RESULTS: During vitamin E supplementation, the mean values of neutrophil counts were significantly higher (p < 0.05) and neutrophil counts lower than 500/mm(3) were found less frequently (p < 0.05); the frequency and severity of infections, mouth ulcers and perianal lesions, was reduced (p < 0.05); ileocolonoscopy and histology showed a mild improvement. Vitamin E supplementation did not result in changes in neutrophil function. CONCLUSIONS: These results suggest that vitamin E supplementation might be beneficial in GSD1b patients and may alleviate disease manifestations associated with neutropenia.

Published
2009

31. Bone metabolism impairment in glycogen storage disease type 1: a case control study

Author

Melis D, Pivonelllo R, Balivo F, Cozzolino M, Gaudieri V, Minichini L, d'Elia F, Di Vuolo l, Lombardi G, Colao A, PARENTI, GIANCARLO, DELLA CASA, ROBERTO, ANDRIA, GENEROSO, Melis, D, Parenti, Giancarlo, Pivonelllo, R, DELLA CASA, Roberto, Balivo, F, Cozzolino, M, Gaudieri, V, Minichini, L, D'Elia, F, Di Vuolo, L, Lombardi, G, Colao, A, and Andria, Generoso

Published
2008

33. Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity

Author

Melis D, PIVONELLO, ROSARIO, Gaudieri V, SALERNO, MARIACAROLINA, D'Elia F, Lombardi G, De Bellis A, Colao A, PARENTI, GIANCARLO, DELLA CASA, ROBERTO, ANDRIA, GENEROSO, Melis, D, Parenti, Giancarlo, Pivonello, Rosario, Gaudieri, V, DELLA CASA, Roberto, Salerno, Mariacarolina, D'Elia, F, Lombardi, G, De Bellis, A, Colao, A, and Andria, Generoso

Published
2008

34. Efficacy of Miglustat on dysphagia in four Nemann-Pick patients

Author

Bruschini D, Fecarotta S, Astarita L, Romano A, Mansi G, Amitrano M, Dolezalova H, DELLA CASA, ROBERTO, PARENTI, GIANCARLO, ANDRIA, GENEROSO, Bruschini, D, Fecarotta, S, Astarita, L, Romano, A, Mansi, G, Amitrano, M, Dolezalova, H, DELLA CASA, Roberto, Parenti, Giancarlo, and Andria, Generoso

Published
2008

35. Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia

Author

Scala I, Ungaro C, Paladino S, Nastasi A, Zuppaldi A, Sibilio M, Figliuolo C, Scarpato E, Capaldo B, Cardillo G, Daniele A, DELLA CASA, ROBERTO, PARENTI, GIANCARLO, ANDRIA, GENEROSO, Scala, I, Ungaro, C, Paladino, S, Nastasi, A, Zuppaldi, A, Sibilio, M, Figliuolo, C, Scarpato, E, Capaldo, B, Cardillo, G, Daniele, A, DELLA CASA, Roberto, Parenti, Giancarlo, and Andria, Generoso

Published
2008

37. Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing

Author

Mozzillo, Enza, primary, Cozzolino, Carla, additional, Genesio, Rita, additional, Melis, Daniela, additional, Frisso, Giulia, additional, Orrico, Ada, additional, Lombardo, Barbara, additional, Fattorusso, Valentina, additional, Discepolo, Valentina, additional, Della Casa, Roberto, additional, Simonelli, Francesca, additional, Nitsch, Lucio, additional, Salvatore, Francesco, additional, and Franzese, Adriana, additional

Published
2016
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42. Malattia di Niemann-Pick tipo A. studio RM in due casi

Author

A. D’Amico, M. Sibilio, G. Parenti, DELLA CASA, ROBERTO, V. Giugliano, A. De Marco, E. Castellano, G. Andria, S. Cirillo, R. Elefante, CARANCI, FERDINANDO, BRIGANTI, FRANCESCO, D’Amico, A., Sibilio, M., Parenti, G., Della Casa, R., Giugliano, V., De Marco, A., Caranci, F., Castellano, E., Andria, G., Briganti, F., Cirillo, S., Elefante, R., A., D’Amico, M., Sibilio, G., Parenti, DELLA CASA, Roberto, V., Giugliano, A., De Marco, Caranci, Ferdinando, E., Castellano, G., Andria, Briganti, Francesco, S., Cirillo, and R., Elefante

Published
2004

44. A novel homozygous mutation in the <italic>SLCO2A1</italic> gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.

Author

Alessandrella, Annalisa, Della Casa, Roberto, Alessio, Maria, Puente Prieto, Jorge, Strisciuglio, Pietro, and Melis, Daniela

Abstract

Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17‐year‐old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin face with seborrhea from about 4 years. At the admission he also showed digital clubbing of both hands and feet and palmoplantar hyperhidrosis. We hypothesized PDP and molecular analysis confirmed diagnosis showing a novel mutation in a homozygous state in the SLCO2A1 gene coding for prostaglandin transporter. He started therapy with hydroxychloroquine with a great improvement in joint pain and skin conditions. This is the first reported case of PDP who was successfully treated with hydroxychloroquine, with effects not only on arthralgia but also, surprisingly, on skin conditions. [ABSTRACT FROM AUTHOR]

Published
2018
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