All publications of “Roberta Cardoso Petroni”

3 results

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, [...]

DOI: 10.1590/S1679-45082017RC4006

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this […]

SeptiFast for diagnosis of sepsis in severely ill patients from a Brazilian hospital

Roberta Sitnik, Alexandre Rodrigues Marra, Roberta Cardoso Petroni, Ozires Pereira Santos Ramos, Marinês Dalla Valle Martino, Jacyr Pasternak, [...]

DOI: 10.1590/S1679-45082014AO2932

ObjectiveTo test and validate a multiplex real-time polymerase chain reaction method for bloodstream infections, as well as to compare the results with conventional blood culture.MethodsA total of 114 consecutive patients with clinical evidence of sepsis were submitted to blood culture and LightCycler™ SeptiFast tests.ResultsMore positive specimens (23; 20.2%) were detected using the LightCycler™ SeptiFast than the blood culture (17; 14.9%), with an agreement of 86.8%. Discordant results were seen in four patients positive only to blood culture, ten positive only […]

The detection of KIT mutations in acute myeloid leukemia

Luis Eduardo Silva Machado, João Renato Rebello Pinho, Roberta Sitnik, Nair Hideko Muto, Elvira Deolinda Rodrigues Pereira Velloso, Roberta Cardoso Petroni, [...]

DOI: 10.1590/S1679-45082012000300005

Objective:This study describes a new method used in the clinical laboratory at Hospital Israelita Albert Einstein to detect mutations in exons 8 and 17 of the KIT gene in patients with acute myeloid leukemia.METHODS:Genomic DNA extraction was performed on 54 samples of peripheral blood or bone marrow from patients with acute myeloid leukemia. The extracted DNA was amplified by polymerase chain reaction and sequenced, and the fragments were analyzed.RESULTS:Within the analyzed samples, we detected four mutations in exon 8, two […]