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1,586 results on '"Spada M."'

365. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Author

Musumeci, O., la Marca, G., Spada, M., Mondello, S., Danesino, C., Comi, G. P., Pegoraro, E., Antonini, G., Marrosu, G., Liguori, R., Morandi, L., Moggio, M., Massa, R., Ravaglia, S., Di Muzio, A., Filosto, M., Tonin, P., Di Iorio, G., Servidei, S., and Siciliano, G.

Subjects
GLYCOGEN storage disease type II, DISEASE progression, EARLY diagnosis, DISEASE prevalence, FLUORIMETRY, DIAGNOSIS, THERAPEUTICS, AGE factors in disease, COMPARATIVE studies, CREATINE kinase, GLYCOSIDASES, MASS spectrometry, RESEARCH methodology, MEDICAL cooperation, MOLECULAR pathology, RESEARCH, RESEARCH evaluation, EVALUATION research, RELATIVE medical risk, SKELETAL muscle, MUSCLE weakness, INBORN errors of carbohydrate metabolism
Abstract

Objective: A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.Design/methods: 17 Italian neuromuscular centres were involved in the late-onset Pompe early diagnosis (LOPED) study. Inclusion criteria were: (1) age ≥5 years, (2) persistent hyperCKaemia and (3) muscle weakness at upper and/or lower limbs (limb-girdle muscle weakness, LGMW). Acid α-glucosidase (GAA) activity was measured separately on DBS by fluorometric as well as tandem mass spectrometry methods. A DBS retest was performed in patients resulted positive at first assay. For the final diagnosis, GAA deficiency was confirmed by a biochemical assay in skeletal muscle, whereas genotype was assessed by GAA molecular analysis.Results: In a 14-month period, we studied 1051 cases: 30 positive samples (2.9%) were detected by first DBS screening, whereas, after retesting, 21 samples were still positive. Biochemical and molecular genetic studies finally confirmed LOPD diagnosis in 17 cases (1.6%). The median time from the onset of symptoms/signs to diagnosis was 5 years. Among those patients, 35% showed presymptomatic hyperCKaemia and 59% showed hyperCKaemia+LGMW, whereas 6% manifested with LGMW.Conclusions: LOPED study suggests that GAA activity should be accurately screened by DBS in all patients referring for isolated hyperCKaemia and/or LGMW. A timely diagnosis was performed in five patients with presymptomatic hyperCKaemia, but two had already manifested with relevant changes on muscle morphology and MRI. Consequently, enzyme replacement therapy was started in 14/17 patients, including the 2 patients still clinically presymptomatic but with a laboratory evidence of disease progression. [ABSTRACT FROM AUTHOR]

Published
2016
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367. CO21 ADOPTIVE IMMUNOTHERAPY WITH EBV-SPECIFIC CYTOTOXIC T-LYMPHOCYTES (CTLs) IN PEDIATRIC LIVER TRANSPLANT RECIPIENTS WITH LOW GRADE, EBV-RELATED POST-TRANSPLANT LYMPHOPROLIFERATIVE DISEASE (PTLD)

Author

Sciveres, M., primary, Miele, M., additional, Cirillo, F., additional, Riva, S., additional, Di Bella, M., additional, Spada, M., additional, Liotta, R., additional, Sonzogni, A., additional, Grossi, P., additional, Maggiore, G., additional, Conaldi, P.G., additional, and Gridelli, B., additional

Published
2012
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378. F-46 Graft survival is worse in HCV positive females transplanted with male donor grafts

Author

Belli, L., primary, Romagnoli, R., additional, Rossi, M., additional, Gerunda, G.E., additional, Pinna, A.D., additional, Agnes, S., additional, Spada, M., additional, Colledan, M., additional, Tisone, G., additional, De Carlis, L., additional, Baccarani, U., additional, Mazzaferro, V., additional, Ettorre, G.M., additional, Cillo, U., additional, Calise, F., additional, Cuomo, O., additional, Lupo, L., additional, Corradini, S. Ginanni, additional, Zamboni, F., additional, Marianelli, T., additional, Risaliti, A., additional, Patrono, D., additional, Li Petri, S., additional, Tagliabue, F., additional, Mangoni, J.M.E., additional, Antonelli, B., additional, Sposito, C., additional, Gringeri, E., additional, Rompianesi, G., additional, Sforza, D., additional, Cucchetti, A., additional, Miglioresi, L., additional, Donataccio, M., additional, Gelli, M., additional, Gavrila, C., additional, Nardi, A., additional, and Angelico, M., additional

Published
2012
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384. The DAURE field campaign: meteorological overview

Author

Jorba, O., primary, Pandolfi, M., additional, Spada, M., additional, Baldasano, J. M., additional, Pey, J., additional, Alastuey, A., additional, Arnold, D., additional, Sicard, M., additional, Artiñano, B., additional, Revuelta, M. A., additional, and Querol, X., additional

Published
2011
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387. [Diagnosis of metabolic coma in children]

Author

Poggi-Travert F, Héron B, Billette de Villemeur T, Spada M, Philippe Jouvet, Charpentier C, Rabier D, Kamoun P, and Jm, Saudubray

Subjects
Adolescent, Liver Diseases, Acute Disease, Humans, Ataxia, Child Behavior Disorders, Coma, Nervous System Diseases, Child, Metabolism, Inborn Errors
Abstract

This article describes the metabolic investigations to be applied in any clinical situation consistent with a late acute form of inborn error of metabolism: unexplained coma with or without focal neurological manifestations, recurrent vomiting with lethargy, episodes of ataxia with or without behaviour disorder, fits of psychiatric troubles. In each of these situations, careful medical history is of major importance searching for previous clinical manifestations such as episodes of coma, ataxia or vomiting, anorexia, failure to thrive, developmental delay, all very suggestive of metabolic disorder. The association of neurological symptoms and abnormal hepatic tests is also of great value and must not lead to the diagnosis of Reye's syndrome without considering a metabolic defect of fatty acid oxidation, urea cycle, respiratory chain, or Wilson's disease. When looking for an etiological origin, it is mandatory to collect all the biological information at the same time, also knowing that metabolic abnormalities may be mild and transitory, and that many of them are non specific (metabolic acidosis, hyperlactacidemia, hyperammonemia, hepatic tests disturbances) being encountered in collapsus, shock and multiple organ failure syndrome.

Published
1994

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