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5. Pediatria pratica - 8. edizione

Author

Bona, G, Miniero, R, Bignamini, E, Boffi, Patrizia, Canavese, F, Coppo, P, Ferrero, F, Goria, E, Haiting, O, Martino, Silvana, Oderda, G, Zaffaroni, M, and Peyron, L.

Published
2009

10. Cluster headache in childhood and adolescence: One-year prevalence in an out-patient population

Author

Gallai, B, Mazzotta, G, Floridi, F, Mattioni, A, Baldi, A, Alberti, A, Sarchielli, P, Gallai, V, Rasmini, P, Besana, D, Tavoni, Ma, Cardinali, C, Puca, Fm, Prudenzano, Mp, Conte, S, Graziano, A, Tamburro, P, Di Meo, G, Burroni, M, Stoppioni, V, Geronzi, P, Ngradi, C, Boltri, L, Zammarano Bogliolo, C, Calistri, L, Scalas, C, Spina, A, Zizzo, L, Crisetti, M, Iussi, Mi, Germano, N, Veneselli, E, Celle, Me, Rolando, S, Saccomani, L, Perenchio, M, Crotta, C, Martini, A, Tozzi, E, Perulli, L, Riva, D, Pantaleoni, C, Pascotto, A, Ruju, Fm, Tagliente, F, Battistella, Pa, Nodari, E, Gatta, M, Naccarella, C, Benini, F, Vecchio, A, D'Japico, N, Parisi, L, Raieli, V, Eliseo, M, Lanzi, G, Mariotti, P, Moscato, D, Mastropaolo, C, Zoroddu, F, Carboni, F, Savi, L, Bassi, Bianca, Boffi, Patrizia, and Reljia, G.

Subjects
medicine.medical_specialty, Pediatrics, Neurology, Ihs criteria, Cluster headache, Original, Population, Headache centers, Episodic cluster headache, Epidemiology, medicine, Prevalence, education, education.field_of_study, business.industry, General Medicine, Adolescence, Childhood, Cluster headache, Headache centers, Prevalence, Cluster headache - Childhood - Adolescence - Prevalence - Headache centers, medicine.disease, Childhood, Adolescence, Patient population, Anesthesiology and Pain Medicine, El Niño, Neurology (clinical), business
Abstract

A multicenter one-year study was carried out on 6629 headache patients under 18 years of age, attending 27 centers and clinics devoted to headache in Italy to identify the prevalence of cluster headache (CH) in childhood and adolescence. Two male CH patients aged 9 and 17 years were identified. Their attacks fulfilled the IHS criteria for CH, and they were classified as having cluster headache with undetermined periodicity and episodic cluster headache, respectively. The one-year prevalence in this headache out-patient population under 18 years of age was calculated to be 0.03%. This value is smaller than that derived in the general population. This finding further confirms the rarity of early diagnosis of this primary disorder in childhood and adolescence, as demonstrated in other studies.

Published
2003

11. Neurophysiologic exploration: a reliable tool in HIV-1 encephalopathy diagnosis in children

Author

Vigliano, P, Boffi, Patrizia, Bonassi, E, Gandione, Marina, Marotta, C, Rainò, E, Russo, R, and Rigardetto, Roberto

Subjects
AIDS Dementia Complex, Child, Preschool, Evoked Potentials, Auditory, Brain Stem, Evoked Potentials, Visual, Humans, Infant, Electroencephalography, Child
Abstract

HIV-1 related encephalopathy has a bad prognostic meaning in the course of AIDS disease, but the early association of different drugs can modify its course. For this reason it is very important to recognize CNS involvement as soon as possible. As shown in the literature, at least in adult studies, EEG and Evoked Potentials (EP) are good tools in evaluating CNS alterations. In children data are rare.A ten-year prospective study of 44 infected children out of 142 born from HIV-1 positive mothers has been done. The children have been submitted to EEG recording every six months in the first 18 months of life and then every year, to multimodal EP every six months. A total of 357 EEG, 47 P-VEP, 62 F-VEP and 98 BAEP have been performed.EEG: we found no pathologic results in patients belonging to category A; results were pathologic in 17.7% in category B, in 47.7% in C and in 77% of encephalopathic patients. It seems that EEG alterations are parallel to disease progression, with a relative risk of developing encephalopathy (R.R. = 1.15) and of death (R.R. = 2.33) for patients belonging to category C. We obtained a statistically significant lengthening in BAEP interpeak latency of left ear in all groups. For patients in category C the risk of developing encephalopathy is statistically significant (p = 0.045; R.R. = 6.75) and risk of death is high (R.R. = 4).Neurophysiologic exams are a reliable tool for the diagnosis of encephalopathy, in addition to clinical evidence.

Published
2001

14. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Author

Scotton, Chiara, Bovolenta, Matteo, Schwartz, Elena, Falzarano, Maria Sofia, Martoni, Elena, Passarelli, Chiara, Armaroli, Annarita, Osman, Hana, Rodolico, Carmelo, Messina, Sonia, Pegoraro, Elena, D'Amico, Adele, Bertini, Enrico, Gualandi, Francesca, Neri, Marcella, Selvatici, Rita, Boffi, Patrizia, Maioli, Maria Antonietta, Lochmüller, Hanns, and Straub, Volker

Subjects
GENE expression profiling, RNA, MOLECULAR clock, COLLAGEN diseases, MUSCLE diseases
Abstract

Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1-/-) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1-/- mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly, Bmal1-/- (also known as Arntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related genes. The involvement of circadian rhythms in collagenVImyopathies is new and links autophagy and mitochondrial abnormalities. It also opens newavenues for therapies of hereditary myopathies tomodulate the molecular clock or potential gene-environment interactions that might modify muscle damage pathogenesis. [ABSTRACT FROM AUTHOR]

Published
2016
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19. Importance of SPP1genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Author

Bello, Luca, Piva, Luisa, Barp, Andrea, Taglia, Antonella, Picillo, Esther, Vasco, Gessica, Pane, Marika, Previtali, Stefano C., Torrente, Yvan, Gazzerro, Elisabetta, Motta, Maria Chiara, Grieco, Gaetano S., Napolitano, Sara, Magri, Francesca, D'Amico, Adele, Astrea, Guja, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, Boffi, Patrizia, Mongini, Tiziana, Ferlini, Alessandra, Gualandi, Francesca, Soraru', Gianni, Ermani, Mario, Vita, Giuseppe, Battini, Roberta, Bertini, Enrico, Comi, Giacomo P., Berardinelli, Angela, Minetti, Carlo, Bruno, Claudio, Mercuri, Eugenio, Politano, Luisa, Angelini, Corrado, Hoffman, Eric P., and Pegoraro, Elena

Abstract

To test the effect of the single nucleotide polymorphism −66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD).

Published
2012
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24. Osteopontin in Duchenne Muscular Dystrophy

Author

Pegoraro, Elena, Bello, Luca, Piva, Luisa, Barp, Andrea, Ermani, Mario, Politano, Luisa, Mercuri, Eugenio, Previtali, Stefano, Torrente, Yvan, Bruno, Claudio, Minetti, Carlo, Berardinelli, Angela, Comi, Giacomo, D Amico, Adele, Soraru, Gianni, Messina, Sonia, Mongini, Tiziana, Bertini, Enrico, Ferlini, Alessandra, Gualandi, Francesca, Battini, Roberta, Boffi, Patrizia, Pane, Marika, Vita, Giuseppe, Hoffman, Eric, and Corrado Angelini

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