São Paulo medical journal = Revista paulista de medicina
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Review Case Reports
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. ⋯ Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.
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Review Case Reports
Renal artery pseudoaneurysm after blunt renal trauma: report on three cases and review of the literature.
Renal artery pseudoaneurysm is a rare complication after renal injury but should be suspected whenever there is recurrent hematuria after renal trauma. ⋯ Renal artery pseudoaneurysm may develop acutely or even years after the initial injury. Signs and symptoms may have a wide spectrum of presentation. Selective angiographic embolization is an effective treatment that reduces the extent of parenchymal infarction.
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Review Case Reports
Bacteremia due to Staphylococcus cohnii ssp. urealyticus caused by infected pressure ulcer: case report and review of the literature.
CONTEXT Coagulase-negative staphylococci are common colonizers of the human skin and have become increasingly recognized as agents of clinically significant nosocomial infections. CASE REPORT The case of a 79-year-old male patient with multi-infarct dementia who presented systemic inflammatory response syndrome is reported. ⋯ CONCLUSIONS The reported case is, to our knowledge, the first case of true bacteremia due to Staphylococcus cohnii subsp. urealyticus caused by an infected pressure ulcer. It shows that this species may be underdiagnosed and should be considered in the differential diagnosis for community-acquired skin infections.
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Neonatal sepsis is associated with premature birth and maternal infection. Large-scale studies seek to define markers that identify neonates at risk of developing sepsis. Here, we examine whether the scientific evidence supports systematic use of polymorphism genotyping in cytokine and innate immunity genes, to identify neonates at increased risk of sepsis. ⋯ Sepsis prediction through systematic genotyping needs to be reevaluated, based on studies that demonstrate the functional impact of gene polymorphisms and epidemiological differences among ethnically distinct populations.
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The Beliefs about Medicines Questionnaire (BMQ-Specific) has proven useful for measuring patients' beliefs and associating them with non-adherence to treatment in several illness groups. The aim was to cross-culturally adapt the BMQ-Specific into Portuguese for the general population of medicine users. ⋯ A cross-culturally adapted Portuguese version of the BMQ-Specific questionnaire for use among the general population of medicine users was obtained, presenting good internal consistency and component structure identical to the original English version.