RESUMO
Methemoglobinemia can be acquired (oxidizing drugs or chemicals products) or inherited either by mutations affecting globin chains [M hemoglobins (M Hbs)] or by defects in the enzymatic system involved in the reduction of spontaneous Hb oxidation: nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase. It is encoded by the CYB5R3 gene: there are two phenotypes of autosomal recessive congenital methemoglobinemia, in type II CYB5R deficiency is generalized and affects all cells, leading to an early onset, whereas in type I, the enzyme deficiency is restricted to erythrocytes, usually discovered in infancy but not exclusively. We report a new case of methemoglobinemia discovered in a patient from Bahrain who exhibited an unknown dyspnea at the age of 37 years without trigger events or oxidizing products. We discovered a new mutation in the CYB5R3 gene: exon 9, codon 266 (delGAG) (GLU) (CYB5R3: c.726_729delGAG) in the homozygous state. Appearance of methemoglobinemia in an adult usually suggests an acquired cause but our case illustrated that it could also reveal a type I mutation of cytochrome b5 reductase.
Assuntos
Citocromo-B(5) Redutase/genética , Genes Recessivos , Metemoglobinemia/diagnóstico , Metemoglobinemia/genética , Mutação , Adulto , Códon , Consanguinidade , Análise Mutacional de DNA , Índices de Eritrócitos , Éxons , Homozigoto , Humanos , Masculino , Metemoglobinemia/tratamento farmacológico , Linhagem , FenótipoRESUMO
We report a case of aortic native valve endocarditis due to Actinotignum schaalii in an 89-year-old man with prostatism history but no signs of urinary infection. Actinotignum schaalii was isolated not only from positive blood culture but also from cardiac valve culture using mass spectrometry and 16S rDNA sequencing. Actinotignum schaalii is recognized as commensal of genitourinary tract, but it was underdiagnosed. The advances in bacterial identification such as MALDI-TOF MS probably explain the increasing described cases of infections due to A. schaalii these last years.
Assuntos
Actinomycetaceae/isolamento & purificação , Valva Aórtica/microbiologia , Endocardite Bacteriana/microbiologia , Doenças das Valvas Cardíacas/microbiologia , Idoso de 80 Anos ou mais , Endocardite Bacteriana/etiologia , Doenças das Valvas Cardíacas/etiologia , Humanos , Masculino , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por MatrizRESUMO
Tularaemia is an emerging anthropozoonosis transmitted by contact with infected animals and through arthropod bites, inhalation, or ingestion. We describe a pulmonary nodule suggesting cancer in a 70-year-old man. Histological analysis excluded neoplasia, and bacteriological culture excluded tuberculosis. Serological testing and PCR Francisella were positive for this hunter patient, then treated by ciprofloxacin with a favourable outcome.