Zobrazeno 1 - 10 of 47 pro vyhledávání: '"Annamaria Giunta"'
1
Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis
Autor: S. Genoni, Manuela Seia, Annamaria Giunta, R. Padoan, Carlo Corbetta, E. Moretti
Publikováno v: Acta Paediatrica. 91:82-87
UNLABELLED A study was performed on the delayed diagnosis of cystic fibrosis (CF) in infants who had false-negative results in a neonatal screening programme. The genetic and clinical features of false-negative infants in this screening programme wer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9aa975f05d597749c36ef46369343a7c
https://doi.org/10.1111/j.1651-2227.2002.tb01646.x
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3
Liver disease in cystic fibrosis: A prospective study on incidence, risk factors, and outcome
Autor: Carla Colombo, Andrea Crosignani, Annamaria Giunta, Pier Maria Battezzati, Diana Costantini, Alberto Morabito, R. Padoan
Publikováno v: Hepatology. 36:1374-1382
Incidence of liver disease (LD) associated with cystic fibrosis (CF) and its clinical characterization still is unsettled. We have assessed prospectively the incidence and risk factors of this complication, and its impact on the clinical course of CF
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8738e50d302c90e3ce58ad25257598b
https://doi.org/10.1053/jhep.2002.37136
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4
Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism
Autor: Laura Cremonesi, Carmelina Magnani, Maurizio Ferrari, Roberto Taramelli, Paola Magnaghi, Annamaria Giunta
Publikováno v: Human Genetics. 98:102-108
In the cystic fibrosis conductance transmembrane regulator (CFTR) gene a few small deletions and only a large, complex, 50-kb deletion have been described so far. We report a second large deletion, which had been hypothesized in a patient affected by
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bec32955e59352e63f58e87954fb418e
https://doi.org/10.1007/s004390050167
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5
Analysis of risk factors for the development of liver disease associated with cystic fibrosis
Autor: Maurizio Ferrari, Maria Grazia Apostolo, Annamaria Giunta, Manuela Seia, Lucia Piceni Sereni, Carla Colombo, Stefania Genoni
Publikováno v: The Journal of Pediatrics. 124:393-399
We prospectively screened for liver disease patients with cystic fibrosis who were more than 3 years of age and who were followed at the cystic fibrosis center of the University of Milan. From January 1991 to December 1992, we screened 189 patients;
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0acb36fee13d23f2af02ce42f50a521
https://doi.org/10.1016/s0022-3476(94)70361-2
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6
Scintigraphic documentation of an improvement in hepatobiliary excretory function after treatment with ursodeoxycholic acid in patients with cystic fibrosis and associated liver disease
Autor: Maria Luisa Assaisso, William F. Balistreri, Ettore Seregni, Carla Colombo, Annamaria Giunta, Maria Rita Castellani
Publikováno v: Hepatology. 15:677-684
We have previously documented that ursodeoxycholic acid exerts a beneficial effect on liver function and bile acid metabolism in patients with cystic fibrosis. We hypothesized that the mechanism of action may be related in part to the choleretic prop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd31146e1f9ebb7d3be4a8482bcfe72
https://doi.org/10.1002/hep.1840150421
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7
Severe nephropathy in three adolescents with cystic fibrosis
Autor: M.L. Melzi, Marisa Giani, D Costantini, A C Appiani, Annamaria Giunta
Publikováno v: Archives of Disease in Childhood. 66:1444-1447
Renal involvement has rarely been reported in patients with cystic fibrosis. We describe severe nephropathy with a rapidly fatal outcome in three adolescents with cystic fibrosis, and evaluate the important repercussions that the nephrotic syndrome h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9e4dee5a09c1909b1a07cd389447bd8
https://doi.org/10.1136/adc.66.12.1444
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8
Effects of ursodeoxycholic acid therapy for liver disease associated with cystic fibrosis
Autor: Carla Colombo, Mauro Podda, Annamaria Giunta, Andrea Crosignani, Aldo Roda, Mariangela Ronchi, Kenneth D.R. Setchell, Laura Curcio
Publikováno v: The Journal of Pediatrics. 117:482-489
The hydrophilic bile acid ursodeoxycholic acid (UDCA) has recently been shown to improve indexes of liver function in adult patients with various liver diseases. The clinical and biochemical responses to UDCA administration (10 to 15 mg/kg body weigh
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fccfa25325518b9e46972aeff91acd0
https://doi.org/10.1016/s0022-3476(05)81103-5
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10
Need for follow up in coeliac disease
Autor: M T Bardella, Molteni N, Paolo A. Bianchi, D Morganti, Baldassarri Ar, Annamaria Giunta, Luigia Prampolini
Publikováno v: Archives of Disease in Childhood. 70:211-213
The use of follow up studies was evaluated in 128 patients with coeliac disease during their first visit to a department for adults. The original diagnosis had been made in childhood in all patients. Fifty eight (45%) of the subjects were following a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a9fd5911e7ae6979c08045c7f65079
https://doi.org/10.1136/adc.70.3.211
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