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Ferritin light chain gene mutations in two Brazilian families with hereditary h...
Petroni,Roberta Cardoso; Rosa,Susana Elaine Alves da; Carvalho,Flavia Pereira de; Santana,Rúbia Anita Ferraz; Hyppolito,Joyce EstevesABSTRACT 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 ...
SeptiFast for diagnosis of sepsis in severely ill patients from a Brazilian hos...
Sitnik,Roberta; Marra,Alexandre Rodrigues; Petroni,Roberta Cardoso; Ramos,Ozires Pereira Santos; Martino,Marinês Dalla Valle; Pasternak,JacyrObjective To 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.Methods A total of 114 consecutive patients with clinical evidence of sepsis were submitted to blood culture and LightCycler™ SeptiFast tests.Results More positive specimens (23; 20.2%) were detected using the LightCycler™ SeptiFast t...
Detecção de mutações no gene KIT em leucemia mieloide aguda
Machado,Luis Eduardo Silva; Pinho,João Renato Rebello; Sitnik,Roberta; Muto,Nair Hideko; Velloso,Elvira Deolinda Rodrigues PereiraOBJETIVO: Descrever a metodologia para detecção de mutações nos éxons 8 e 17 do gene KIT em pacientes portadores de leucemia mieloide aguda, para implementação desse teste no laboratório clínico do Hospital Israelita Albert Einstein. MÉTODOS: Extração do DNA genômico de 54 amostras de sangue periférico ou medula óssea de pacientes com leucemia mieloide aguda para amplificação, por reação em cadeia da polimerase...