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1. Increase of Parkin and ATG5 plasmatic levels following perinatal hypoxic-ischemic encephalopathy

Author

Tarocco, Anna, Morciano, Giampaolo, Perrone, Mariasole, Cafolla, Claudia, Ferrè, Cristina, Vacca, Tiziana, Pistocchi, Ginevra, Meneghin, Fabio, Cocchi, Ilaria, Lista, Gianluca, Cetin, Irene, Greco, Pantaleo, Garani, Giampaolo, Stella, Marcello, Natile, Miria, Ancora, Gina, Savarese, Immacolata, Campi, Francesca, Bersani, Iliana, Dotta, Andrea, Tiberi, Eloisa, Vento, Giovanni, Chiodin, Elisabetta, Staffler, Alex, Maranella, Eugenia, Di Fabio, Sandra, Wieckowski, Mariusz R., Giorgi, Carlotta, and Pinton, Paolo

Published
2022
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2. Lung recruitment before surfactant administration in extremely preterm neonates with respiratory distress syndrome (IN-REC-SUR-E): a randomised, unblinded, controlled trial

Author

Vento, Giovanni, Ventura, Maria Luisa, Pastorino, Roberta, van Kaam, Anton H, Carnielli, Virgilio, Cools, Filip, Dani, Carlo, Mosca, Fabio, Polglase, Graeme, Tagliabue, Paolo, Boni, Luca, Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Costa, Simonetta, D'Andrea, Vito, Lucente, Mariella, Nigro, Gabriella, Giordano, Lucio, Roma, Vincenzina, Villani, Paolo E, Fusco, Francesca P, Fasolato, Valeria, Colnaghi, Maria Rosa, Matassa, Piero G, Vendettuoli, Valentina, Poggi, Chiara, Del Vecchio, Antonio, Petrillo, Flavia, Betta, Pasqua, Mattia, Carmine, Garani, Giampaolo, Solinas, Agostina, Gitto, Eloisa, Salvo, Vincenzo, Gargano, Giancarlo, Balestri, Eleonora, Sandri, Fabrizio, Mescoli, Giovanna, Martinelli, Stefano, Ilardi, Laura, Ciarmoli, Elena, Di Fabio, Sandra, Maranella, Eugenia, Grassia, Carolina, Ausanio, Gaetano, Rossi, Vincenzo, Motta, Angela, Tina, Lucia G, Maiolo, Kim, Nobile, Stefano, Messner, Hubert, Staffler, Alex, Ferrero, Federica, Stasi, Ilaria, Pieragostini, Luisa, Mondello, Isabella, Haass, Cristina, Consigli, Chiara, Vedovato, Stefania, Grison, Alessandra, Maffei, Gianfranco, Presta, Giuseppe, Perniola, Roberto, Vitaliti, Marcello, Re, Maria P, De Curtis, Mario, Cardilli, Viviana, Lago, Paola, Tormena, Francesca, Orfeo, Luigi, Gizzi, Camilla, Massenzi, Luca, Gazzolo, Diego, Strozzi, Maria Chiara M, Bottino, Roberto, Pontiggia, Federica, Berardi, Alberto, Guidotti, Isotta, Cacace, Caterina, Meli, Valerio, Quartulli, Lorenzo, Scorrano, Antonio, Casati, Alessandra, Grappone, Lidia, and Pillow, J Jane

Published
2021
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6. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-François, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, and Thevenon, Julien

Published
2017
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10. Il riconoscimento del dolore nel neonato a termine e pretermine

Author

Domenicali, Cecilia, Sineri, Giovanna, MENIN, DAMIANO, Garani, Giampaolo, Dondi, Marco, Domenicali, Cecilia, Sineri, Giovanna, Menin, Damiano, Garani, Giampaolo, and Dondi, Marco

Subjects
dolore, Pain, neonatal pain experience, prematurity, pain assessment scales, non-pharmacological pain management/treatment, esperienza del dolore neonatale, scale di valutazione del dolore, prematurity, Socio-culturale, Pain, dolore, esperienza del dolore neonatale, prematurità, scale di valutazione del dolore, trattamenti analgesici non-farmacologici, pain assessment scales, Clinical Psychology, neonatal pain experience, non-pharmacological pain management/treatment, Pain assessment scale, Developmental and Educational Psychology, trattamenti analgesici non-farmacologici, prematurità
Abstract

The identification and treatment of neonatal pain are still problematic, despite the evidence that neonates feel pain and that early exposure can influence later development in the processing of nociceptive stimuli. The aims of this work were to review the crucial steps that led to recognize neonatal pain, to provide an insight into the development of the nociceptive path-ways and to present issues regarding short- and long-term effects, pain assessment and treatment.

Published
2017

11. Lo sbadiglio nel neonato pretermine

Author

Menin, Damiano, Sineri, Giovanna, Garani, Giampaolo, Ballardini, Elisa, Borgna, Caterina, Panebianco, R., Oster, H., and Dondi, Marco

Subjects
Socio-culturale
Published
2016

12. Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, primary, Bigoni, Stefania, additional, Kennedy, Joanna, additional, Whiteford, Margo, additional, Buxton, Chris, additional, Parmeggiani, Giulia, additional, Wherlock, Matt, additional, Woodward, Geoff, additional, Greenslade, Mark, additional, Williams, Maggie, additional, St-Onge, Judith, additional, Ferlini, Alessandra, additional, Garani, Giampaolo, additional, Ballardini, Elisa, additional, van Bon, Bregje W, additional, Acuna-Hidalgo, Rocio, additional, Bohring, Axel, additional, Deleuze, Jean-François, additional, Boland, Anne, additional, Meyer, Vincent, additional, Olaso, Robert, additional, Ginglinger, Emmanuelle, additional, Study, DDD, additional, Rivière, Jean-Baptiste, additional, Brunner, Han G, additional, Hoischen, Alexander, additional, Newbury-Ecob, Ruth, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, and Thevenon, Julien, additional

Published
2017
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14. Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress

Author

Tarocco, Anna, Ballardini, Elisa, Contiero, Maria Raffaella, Garani, Giampaolo, and Fanaro, Silvia

Subjects
Article Subject
Abstract

Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A. He required mechanical ventilation for 26 days and was treated with 5 subsequent doses of surfactant with temporary and short-term efficacy. He was discharged at 37 weeks of postconceptional age without any respiratory support. During the first 16 months of life he developed five respiratory infections that did not require hospitalization. Conclusion. This mild course in our patient with two mutations is peculiar because the outcome in patients with a single SFTPC mutation is usually poor.

Published
2015
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15. Efficacy of a new technique – INtubate-RECruit-SURfactant-Extubate – “IN-REC-SUR-E” – in preterm neonates with respiratory distress syndrome: study protocol for a randomized controlled trial

Author

Vento, Giovanni, primary, Pastorino, Roberta, additional, Boni, Luca, additional, Cota, Francesco, additional, Carnielli, Virgilio, additional, Cools, Filip, additional, Dani, Carlo, additional, Mosca, Fabio, additional, Pillow, Jane, additional, Polglase, Graeme, additional, Tagliabue, Paolo, additional, van Kaam, Anton H., additional, Ventura, Maria Luisa, additional, Tana, Milena, additional, Tirone, Chiara, additional, Aurilia, Claudia, additional, Lio, Alessandra, additional, Ricci, Cinzia, additional, Gambacorta, Alessandro, additional, Consigli, Chiara, additional, D’Onofrio, Danila, additional, Gizzi, Camilla, additional, Massenzi, Luca, additional, Cardilli, Viviana, additional, Casati, Alessandra, additional, Bottino, Roberto, additional, Pontiggia, Federica, additional, Ciarmoli, Elena, additional, Martinelli, Stefano, additional, Ilardi, Laura, additional, Colnaghi, Mariarosa, additional, Matassa, Piero Giuseppe, additional, Vendettuoli, Valentina, additional, Villani, Paolo, additional, Fusco, Francesca, additional, Gazzolo, Diego, additional, Ricotti, Alberto, additional, Ferrero, Federica, additional, Stasi, Ilaria, additional, Magaldi, Rosario, additional, Maffei, Gianfranco, additional, Presta, Giuseppe, additional, Perniola, Roberto, additional, Messina, Francesco, additional, Montesano, Giovanna, additional, Poggi, Chiara, additional, Giordano, Lucio, additional, Roma, Enza, additional, Grassia, Carolina, additional, Ausanio, Gaetano, additional, Sandri, Fabrizio, additional, Mescoli, Giovanna, additional, Giura, Francesco, additional, Garani, Giampaolo, additional, Solinas, Agostina, additional, Lucente, Maria, additional, Nigro, Gabriella, additional, Del Vecchio, Antonello, additional, Petrillo, Flavia, additional, Orfeo, Luigi, additional, Grappone, Lidia, additional, Quartulli, Lorenzo, additional, Scorrano, Antonio, additional, Messner, Hubert, additional, Staffler, Alex, additional, Gargano, Giancarlo, additional, Balestri, Eleonora, additional, Nobile, Stefano, additional, Cacace, Caterina, additional, Meli, Valerio, additional, Dallaglio, Sara, additional, Pasqua, Betta, additional, Mattia, Loretta, additional, Gitto, Eloisa, additional, Vitaliti, Marcello, additional, Re, Maria Paola, additional, Vedovato, Stefania, additional, Grison, Alessandra, additional, Berardi, Alberto, additional, Torcetta, Francesco, additional, Guidotti, Isotta, additional, di Fabio, Sandra, additional, Maranella, Eugenia, additional, Mondello, Isabella, additional, Visentin, Stefano, additional, and Tormena, Francesca, additional

Published
2016
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18. Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay

Author

Parmeggiani, Giulia, Bigoni, Stefania, Buldrini, Barbara, Garani, Giampaolo, Clauser, Luigi, Galiè, Manilo, Ferlini, Alessandra, and Fini, Sergio

Abstract

Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases. Only a limited specific correlation was found, probably due to the prevalence of very common symptoms.

Published
2024
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21. Una 'comune' gastroschisi

Author

Ballardini, Elisa, Greggio, Maria Silvia, Solinas, Agostina, Garani, Giampaolo, Guerrini, Pietro, Bleve, Cosimo, and Franchella, Andrea

Subjects
neonato, gastroschisi
Published
2007

23. Ipoventilazione centrale congenita: descrizione di un caso

Author

Bellagamba, Maria Paola, Ballardini, Elisa, Ventola, Mariela Adriana, Garani, Giampaolo, Tamisari, Lalla, Guerrini, Pietro, Benedetti, Michele, Soffiati, M., and Biban, P.

Subjects
Sindrome da ipoventilazione centrale congenita, neonato
Published
2006

24. Anemizzazione acuta grave in un neonato VLBW

Author

Ballardini, Elisa, Fanaro, Silvia, Garani, Giampaolo, Guerrini, Pietro, Vella, Claudio, and Franchella, Andrea

Subjects
anemia acuta, neonato pretermine di peso molto basso
Published
2006

27. Expanding the clinical spectrum of recessive truncating mutations of KLHL7to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-Francois, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, and Thevenon, Julien

Abstract

BackgroundBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical ‘BOS’ posture. BOS is caused by sporadic mutations ofASXL1. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity.ObjectivesTo expand the phenotypical spectrum of autosomal recessive variants of KLHL7, reported as causing Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1)-like syndrome.MethodsWe performed whole-exome sequencing in two families with a suspected recessive mode of inheritance. We used the Matchmaker Exchange initiative to identify additional patients.ResultsHere, we report six patients with microcephaly, facial dysmorphism, including exophthalmos, nevus flammeus of the glabella and joint contractures with a suspected BOS posture in five out of six patients. We identified autosomal recessive truncating mutations in the KLHL7gene. KLHL7encodes a BTB–kelch protein implicated in the cell cycle and in protein degradation by the ubiquitin–proteasome pathway. Recently, biallelic mutations in the KLHL7gene were reported in four families and associated with CS/CISS1, characterised by clinical features overlapping with our patients.ConclusionWe have expanded the clinical spectrum of KLHL7autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS.

Published
2017
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29. ATP1A2- and ATP1A3- associated early profound epileptic encephalopathy and polymicrogyria

Author

Vetro, Annalisa, Nielsen, Hang N, Holm, Rikke, Hevner, Robert F, Parrini, Elena, Powis, Zoe, Møller, Rikke S, Bellan, Cristina, Simonati, Alessandro, Lesca, Gaétan, Helbig, Katherine L, Palmer, Elizabeth E, Mei, Davide, Ballardini, Elisa, Van Haeringen, Arie, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J, Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M S, Clayton-Smith, Jill, Bigoni, Stefania, Scheffer, Ingrid E, Dobyns, William B, Vilsen, Bente, Guerrini, Renzo, Sanlaville, Damien, Sachdev, Rani, Andrews, Ian, Mari, Francesco, Cavalli, Anna, Barba, Carmen, De Maria, Beatrice, Garani, Giampaolo, Lemke, Johannes R, Mastrangelo, Mario, Tam, Emily, Donner, Elizabeth, Branson, Helen, Monteiro, Fabiola P, Kok, Fernando, Howell, Katherine B, Leech, Stephanie, Mefford, Heather, Muir, Alison, and Clinical Genetics

Subjects
Male, 0301 basic medicine, Pathology, Microcephaly, Na+/K+-ATPase pump, CHILDHOOD, PHENOTYPE, 0302 clinical medicine, Na + /K + -ATPase pump, ATP1A3, Chlorocebus aethiops, Polymicrogyria, polymicrogyria, Child, NEURONS, Familial hemiplegic migraine, Brain Diseases, FAMILIAL HEMIPLEGIC MIGRAINE, ATP1A2, 3. Good health, Phenotype, Child, Preschool, COS Cells, Female, Sodium-Potassium-Exchanging ATPase, medicine.symptom, medicine.medical_specialty, Adolescent, Genotype, NA,K-ATPASE, Socio-culturale, 03 medical and health sciences, Atrophy, ALTERNATING HEMIPLEGIA, medicine, Animals, Humans, developmental and epileptic encephalopathy, SPECTRUM, Epilepsy, Cerebellar ataxia, business.industry, Alternating hemiplegia of childhood, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, DE-NOVO MUTATIONS, SUBUNIT, Mutation, Na plus /K plus -ATPase pump, Neurology (clinical), business, Brain morphogenesis, 030217 neurology & neurosurgery
Abstract

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. We investigated the genetic causes of developmental and epileptic encephalopathies variably associated with malformations of cortical development in a large cohort and identified 22 patients with de novo or inherited heterozygous ATP1A2/A3 mutations. We characterized clinical, neuroimaging and neuropathological findings, performed in silico and in vitro assays of the mutations’ effects on the NKA-pump function, and studied genotype-phenotype correlations. Twenty-two patients harboured 19 distinct heterozygous mutations of ATP1A2 (six patients, five mutations) and ATP1A3 (16 patients, 14 mutations, including a mosaic individual). Polymicrogyria occurred in 10 (45%) patients, showing a mainly bilateral perisylvian pattern. Most patients manifested early, often neonatal, onset seizures with a multifocal or migrating pattern. A distinctive, ‘profound’ phenotype, featuring polymicrogyria or progressive brain atrophy and epilepsy, resulted in early lethality in seven patients (32%). In silico evaluation predicted all mutations to be detrimental. We tested 14 mutations in transfected COS-1 cells and demonstrated impaired NKA-pump activity, consistent with severe loss of function. Genotype-phenotype analysis suggested a link between the most severe phenotypes and lack of COS-1 cell survival, and also revealed a wide continuum of severity distributed across mutations that variably impair NKA-pump activity. We performed neuropathological analysis of the whole brain in two individuals with polymicrogyria respectively related to a heterozygous ATP1A3 mutation and a homozygous ATP1A2 mutation and found close similarities with findings suggesting a mainly neural pathogenesis, compounded by vascular and leptomeningeal abnormalities. Combining our report with other studies, we estimate that ∼5% of mutations in ATP1A2 and 12% in ATP1A3 can be associated with the severe and novel phenotypes that we describe here. Notably, a few of these mutations were associated with more than one phenotype. These findings assign novel, ‘profound’ and early lethal phenotypes of developmental and epileptic encephalopathies and polymicrogyria to the phenotypic spectrum associated with heterozygous ATP1A2/A3 mutations and indicate that severely impaired NKA pump function can disrupt brain morphogenesis.

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30. Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy.

Author

Ballardini E, Tarocco A, Marsella M, Bernardoni R, Carandina G, Melandri C, Guerra G, Patella A, Zucchelli M, Ferlini A, Bigoni S, Ravani A, Garani G, and Borgna-Pignatti C

Subjects
Anemia, Sickle Cell epidemiology, Chromatography, High Pressure Liquid methods, Female, Hemoglobinopathies epidemiology, Humans, Infant, Newborn, Infant, Newborn, Diseases epidemiology, Italy epidemiology, Male, Pregnancy, Anemia, Sickle Cell diagnosis, Hemoglobinopathies diagnosis, Hemoglobins, Infant, Newborn, Diseases diagnosis, Neonatal Screening methods
Abstract

Background: Sickle cell disease is the commonest haemoglobinopathy in Africa, the Middle East and India. In recent years, its incidence has increased dramatically also in Europe and North America because of the high rate of migration of people from endemic areas. From January 2009 to January 2010 the number of foreign residents in the province of Ferrara (Italy) increased by 12.2%: most of the immigrants were from countries at high risk of sickle cell disease. Since neonatal screening and prophylactic penicillin in early childhood could reduce mortality by 10 years of age to less than 2%, the aim of this study was to establish a neonatal screening programme for haemoglobinopathies in Ferrara., Materials and Methods: First we assessed how many pregnant women underwent haemoglobin analysis by high performance liquid chromatography before or during pregnancy and how many of them were carriers of haemoglobinopathies. Subsequently, we verified the feasibility of neonatal screening for sickle cell disease and other haemoglobinopathies, analysing cord blood by high performance liquid chromatography. Neonates found to be positive were managed by a multidisciplinary team to implement all the appropriate prophylactic and therapeutic measures., Results: We found that 59% of women who delivered at the University Hospital of Ferrara, from 2007 to 2009, had undergone high performance liquid chromatography. Of the 41% who were not tested, many were from areas in which sickle cell disease is common. Between September 26th 2010 and January 31st 2012, 1992 neonatal tests were performed and 24 carriers of haemoglobinopathies were identified (16 with HbS, 4 with HbC, 2 with HbE, 1 with HbD Punjab and 1 with HbD-Ouled Rabah); 42.6% of the mothers of these 1,992 neonates had not undergone high performance liquid chromatography during pregnancy., Discussion: Currently prevention of haemoglobinopathies in Italy is provided during the pre-conception period but only to patients with abnormal blood counts. Neonatal screening is useful and cost-effective to ensure early diagnosis and appropriate treatment for infants with sickle cell disease or other haemoglobinopathies.

Published
2013
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