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12 results on '"Martino, Marida"'

3. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

Author

Ahram, Dina F., Lim, Tze Y., Ke, Juntao, Jin, Gina, Verbitsky, Miguel, Bodria, Monica, Kil, Byum Hee, Chatterjee, Debanjana, Piva, Stacy E., Marasa, Maddalena, Zhang, Jun Y., Cocchi, Enrico, Caridi, Gianluca, Gucev, Zoran, Lozanovski, Vladimir J., Pisani, Isabella, Izzi, Claudia, Savoldi, Gianfranco, Gnutti, Barbara, Capone, Valentina P., Morello, William, Guarino, Stefano, Esposito, Pasquale, Lambert, Sarah, Radhakrishnan, Jai, Appel, Gerald B., Uy, Natalie S., Rao, Maya K., Canetta, Pietro A., Bomback, Andrew S., Nestor, Jordan G., Hays, Thomas, Cohen, David J., Finale, Carolina, Wijk, Joanna A.E. van, La Scola, Claudio, Baraldi, Olga, Tondolo, Francesco, Di Renzo, Dacia, Jamry-Dziurla, Anna, Pezzutto, Alessandro, Manca, Valeria, Mitrotti, Adele, Santoro, Domenico, Conti, Giovanni, Martino, Marida, Giordano, Mario, Gesualdo, Loreto, Zibar, Lada, Masnata, Giuseppe, Bonomini, Mario, Alberti, Daniele, La Manna, Gaetano, Caliskan, Yasar, Ranghino, Andrea, Marzuillo, Pierluigi, Kiryluk, Krzysztof, Krzemień, Grażyna, Miklaszewska, Monika, Lin, Fangming, Montini, Giovanni, Scolari, Francesco, Fiaccadori, Enrico, Arapović, Adela, Saraga, Marijan, McKiernan, James, Alam, Shumyle, Zaniew, Marcin, Szczepańska, Maria, Szmigielska, Agnieszka, Sikora, Przemysław, Drożdż, Dorota, Mizerska-Wasiak, Malgorzata, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Latos-Bielenska, Anna, Gharavi, Ali G., Ghiggeri, Gian Marco, Materna-Kiryluk, Anna, Westland, Rik, and Sanna-Cherchi, Simone

Published
2023
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4. A pediatric neurologic assessment score may drive the eculizumab-based treatment of Escherichia coli-related hemolytic uremic syndrome with neurological involvement

Author

Giordano, Paolo, Netti, Giuseppe Stefano, Santangelo, Luisa, Castellano, Giuseppe, Carbone, Vincenza, Torres, Diletta Domenica, and Martino, Marida

Subjects
Eculizumab -- Dosage and administration -- Complications and side effects, Hemolytic-uremic syndrome -- Causes of -- Drug therapy -- Research, Escherichia coli -- Physiological aspects -- Research, Health
Abstract

Background Thrombotic microangiopathy (TMA) is a clinical syndrome encompassing a large group of rare but severe disorders including thrombotic thrombocytopenic purpura (TTP) and both typical and atypical forms of hemolytic uremic syndrome (HUS). The key role of the complement system is well known in TTP and atypical HUS, but recent reports describe its involvement in the pathogenesis of HUS secondary to gastrointestinal infections due to Shiga toxin-producing Escherichia coli (STEC). Methods TMA mainly affects the kidney, but extra-renal complications are frequently described. The involvement of the central nervous system (CNS) represents often a life-threatening condition and it can result in serious long-term disability in HUS patients who overcome the acute phase of illness. In the present study, we retrospectively analyzed a pediatric cohort of a single tertiary pediatric hospital in Southern Italy, in which this complication occurred in 12/54 children (22% of cases), of whom five with severe neurological involvement had been successfully treated with eculizumab. Results The great clinical variability of brain injury in our cohort has led us to retrospectively build a 'neurological score' useful to assess the clinical severity of neurologic involvement. Subjects with higher neurologic score due to the most severe CNS involvement resulted in the group of patients early treated with eculizumab, obtaining a good clinical response (four out five patients). In conclusion, the early treatment with eculizumab in children with severe neurological involvement during STEC-HUS was associated with complete regression of both acute kidney injury (AKI) and neurological lesions observed at magnetic resonance imaging (MRI). Conclusions A 'neurological score' may be a useful tool to drive the early treatment of CNS complications in STEC-HUS with eculizumab, although future perspective controlled studies are urgently needed to validate this therapeutic approach., Author(s): Paolo Giordano [sup.1] , Giuseppe Stefano Netti [sup.2] , Luisa Santangelo [sup.1] , Giuseppe Castellano [sup.3] , Vincenza Carbone [sup.1] , Diletta Domenica Torres [sup.1] , Marida Martino [sup.1] [...]

Published
2019
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5. Recurrent urinary tract infections in kidney transplant recipients during the first-year influence long-term graft function: a single-center retrospective cohort study

Author

Pesce, Francesco, Martino, Marida, Fiorentino, Marco, Rollo, Tiziana, Simone, Simona, Gallo, Pasquale, Stallone, Giovanni, Grandaliano, Giuseppe, Schena, Antonio, Margiotta, Marcella, Mininni, Donata, Palieri, Rita, Lucarelli, Giuseppe, Battaglia, Michele, Gesualdo, Loreto, and Castellano, Giuseppe

Published
2019
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8. From uganda to italy: a case of nephrotic syndrome secondary to plasmodium infection, quartan malarial nephropathy and kidney failure

Author

Gentile, Federico, primary, Martino, Marida, additional, Santangelo, Luisa, additional, Giordano, Paolo, additional, Torres, Diletta Domenica, additional, Carbone, Vincenza, additional, Palma, Anna Maria Di, additional, Rossini, Michele, additional, Gesualdo, Loreto, additional, Giordano, Paola, additional, and Giordano, Mario, additional

Published
2019
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9. A pediatric neurologic assessment score may drive the eculizumab-based treatment of Escherichia coli-related hemolytic uremic syndrome with neurological involvement

Author

Giordano, Paolo, primary, Netti, Giuseppe Stefano, additional, Santangelo, Luisa, additional, Castellano, Giuseppe, additional, Carbone, Vincenza, additional, Torres, Diletta Domenica, additional, Martino, Marida, additional, Sesta, Michela, additional, Di Cuonzo, Franca, additional, Resta, Maria Chiara, additional, Gaeta, Alberto, additional, Milella, Leonardo, additional, Chironna, Maria, additional, Germinario, Cinzia, additional, Scavia, Gaia, additional, Gesualdo, Loreto, additional, and Giordano, Mario, additional

Published
2018
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11. Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Author

Gigante, Maddalena, primary, Santangelo, Luisa, additional, Diella, Sterpeta, additional, Caridi, Gianluca, additional, Argentiero, Lucia, additional, D''Alessandro, Maria Michela, additional, Martino, Marida, additional, Stea, Emma Diletta, additional, Ardissino, Gianluigi, additional, Carbone, Vincenza, additional, Pepe, Silvana, additional, Scrutinio, Domenico, additional, Maringhini, Silvio, additional, Ghiggeri, Gian Marco, additional, Grandaliano, Giuseppe, additional, Giordano, Mario, additional, and Gesualdo, Loreto, additional

Published
2016
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12. Mutational Spectrum of CYP24A1Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Author

Gigante, Maddalena, Santangelo, Luisa, Diella, Sterpeta, Caridi, Gianluca, Argentiero, Lucia, D''Alessandro, Maria Michela, Martino, Marida, Stea, Emma Diletta, Ardissino, Gianluigi, Carbone, Vincenza, Pepe, Silvana, Scrutinio, Domenico, Maringhini, Silvio, Ghiggeri, Gian Marco, Grandaliano, Giuseppe, Giordano, Mario, and Gesualdo, Loreto

Abstract

Background/Aims:Loss-of-function mutations in the CYP24A1gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH). Methods:We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels <10 pg/ml and 4 adult patients with nephrolithiasis, mild hypercalcemia and PTH levels <10 pg/ml from 11 unrelated Italian families. Clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leucocytes using standard methods, and whole coding sequence of CYP24A1 gene was analysed in all patients and family members by polymerase chain reaction and direct sequencing. The potential pathogenicity of the newly identified missense mutations was evaluated by 3 different in silico approaches (Sorting Intolerant from Tolerant, Polyphen and Mutation Taster) and by comparative analysis in 14 different species using ClustalW software. Results:CYP24A1 bi-allelic mutations were found in 8 individuals from 7 Italian families (7/11; 64%). Overall, 6 different CYP24A1 mutations, including one small deletion (p.Glu143del), 4 missense mutations (p.Leu148Pro; p.Arg396Trp; p.Pro503Leu; p.Glu383Gln) and one nonsense mutation (p.Tyr220*) were identified. Two out of 6 mutations (p.Tyr220* and p.Pro503Leu) were not previously described. Moreover, a new CYP24A1variant was identified by genetic screening of asymptomatic controls. Conclusion:To the best of our knowledge, this is the first report of a CYP24A1molecular analysis performed in an Italian cohort of adult and pediatric Italian patients. This study (1) confirms that CYP24A1 plays a causal role in some but not all cases of IIH (64%); (2) expands the spectrum of known CYP24A1pathogenic mutations; (3) describes 2 hotspots detected in 50% of all Italian cases; and (4) emphasizes the importance of recognition and genetic diagnosis of CYP24A1defects in infantile as well as adult hypercalcemia.

Published
2016
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