Search

Your search keyword '"Peratoner L"' showing total 5 results
Start Over "Peratoner L" Language undetermined
5 results on '"Peratoner L"'

4. Risk factors for poor renal prognosis in children with hemolytic uremic syndrome

Author

Angela Caringella, Elio Salvaggio, Laura De Petris, Leopoldo Peratoner, Maurizio Gaido, Lucilla Ravà, Alberto Edefonti, Alfredo Caprioli, Rosanna Coppo, Alfonso Ferretti, Giovanni Montini, Giovambattista Capasso, Gianfranco Rizzoni, Rosa Penza, Salvatore Li Volti, Alessandra Gianviti, Carmen Setzu, Gianluigi Ardissino, Nunzia Miglietti, Salvatore Maffei, Carmine Pecoraro, Alberto Eugenio Tozzi, Graziella Zacchello, Ilse Ratsche, Alberto Bettinelli, Silvio Maringhini, Marco Pennesi, Francesco Perfumo, Ivana Pela, Giuliana Lama, Tommaso De Palo, Gianviti, A, Tozzi, Ae, DE PETRIS, L, Caprioli, A, Rava, L, Edefonti, A, Ardissino, G, Montini, G, Zacchello, G, Ferretti, A, Pecoraro, C, DE PALO, T, Caringella, A, Gaido, M, Coppo, R, Perfumo, F, Miglietti, N, Ratsche, I, Penza, R, Capasso, Giovambattista, Maringhini, S, LI VOLTI, S, Setzu, C, Pennesi, M, Bettinelli, A, Peratoner, L, Pela, I, Salvaggio, E, Lama, G, Maffei, S, and Rizzoni, G.

Subjects
Nephrology, Diarrhea, Male, medicine.medical_specialty, Atypical hemolytic uremic syndrome, Adolescent, medicine.medical_treatment, Gastroenterology, Shiga Toxin, Cohort Studies, Leukocyte Count, fluids and secretions, Shiga toxin-producing Escherichia coli, Central Nervous System Diseases, Risk Factors, Internal medicine, medicine, Humans, Risk factor, Age of Onset, Child, Escherichia coli Infections, Proportional Hazards Models, Prognostic factor, business.industry, Proportional hazards model, Infant, Classification, medicine.disease, Prognosis, Long-term outcome, Survival Analysis, Hemolytic urenic syndrome, Treatment Outcome, Italy, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Hemolytic-Uremic Syndrome, Plasmapheresis, Female, medicine.symptom, Age of onset, business, Kidney disease
Abstract

Many factors have been proposed as predictors of poor renal prognosis in children with hemolytic uremic syndrome (HUS), but their role is still controversial. Our aim was to detect the most reliable early predictors of poor renal prognosis to promptly identify children at major risk of bad outcome who could eventually benefit from early specific treatments, such as plasmapheresis. Prognostic factors identifiable at onset of HUS were evaluated by survival analysis and a proportional hazard model. These included age at onset, prodromal diarrhea (D), leukocyte count, central nervous system (CNS) involvement, and evidence of Shiga toxin-producing Escherichia coli (STEC) infection. Three hundred and eighty-seven HUS cases were reported; 276 were investigated for STEC infection and 189 (68%) proved positive. Age at onset, leukocyte count, and CNS involvement were not associated with the time to recovery. Absence of prodromal D and lack of evidence of STEC infection were independently associated with a poor renal prognosis; only 34% of patients D(-)STEC(- )recovered normal renal function compared with 65%-76% of D(+)STEC(+), D(+)STEC(-) and D(-)STEC(+ )patients. In conclusion, absence of both D and evidence of STEC infection are needed to identify patients with HUS and worst prognosis, while D(-) but STEC(+) patients have a significantly better prognosis.

Published
2003

5. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

Author

Gianfranco Rizzoni, M. Savi, L. Peratoner, Marisa Giani, Maria Laura Cossu, P. Riegler, Tauro Maria Neri, Francesco Scolari, Mirella Bruttini, Andrea Ballabio, Alessandra Grillo, Lucia Galli, M. Mileti, Mietta Meroni, P. Zanelli, Alessandra Renieri, Adalberto Sessa, Laura Massella, M. De Marchi, Renieri, A, Galli, L, Grillo, A, Bruttini, M, Neri, T, Zanelli, P, Rizzoni, G, Massella, L, Sessa, A, Meroni, M, Peratoner, L, Riegler, P, Scolari, F, Mileti, M, Giani, M, Cossu, M, Savi, S, Ballabio, Andrea, and DE MARCHI, M.

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, DNA, Complementary, X Chromosome, Adolescent, DNA Mutational Analysis, Nephritis, Hereditary, Gene mutation, Biology, Hybrid Cells, urologic and male genital diseases, Polymerase Chain Reaction, Type IV collagen, Exon, Gene mapping, Leiomyomatosis, Gene duplication, otorhinolaryngologic diseases, medicine, Humans, Alport syndrome, Age of Onset, skin and connective tissue diseases, Child, Frameshift Mutation, Genetics (clinical), Sequence Deletion, Genetics, Glomerulonephritis, Exons, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, Pedigree, Phenotype, Genes, Italy, Chromosomes, Human, Pair 2, Disease Progression, Kidney Failure, Chronic, Female, Collagen
Abstract

Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X-linked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 177 Italian Alport syndrome families by Southern blotting using cDNA probes from both COL4A5 and COL4A6. Nine unrelated families, accounting for 5% of the cases, were found to have a rearrangement in COL4A5. No rearrangements were found in COL4A6, with the exception of a deletion encompassing the 5' ends of both COL4A5 and COL4A6 genes in a patient with Alport syndrome and leiomyomatosis. COL4A5 rearrangements were all intragenic and included 1 duplication and 7 deletions. Polymerase chain reaction (PCR) analysis was carried out to characterize deletion and duplication boundaries and to predict the resulting protein abnormality. The two smallest deletions involved a single exon (exons 17 and 40, respectively), while the largest ones spanned exons 1 to 36. The clinical phenotype of patients in whom a rearrangement in COL4A5 was detected was severe, with progression to end-stage renal failure in juvenile age and hypoacusis occurring in most cases. These data have some important implications in the diagnosis of patients with Alport syndrome.

Published
1995

Catalog

Books, media, physical & digital resources
See catalog results