Publications by authors named "M T B M Auricchio"

At the Brazilian Synchrotron Light Laboratory (LNLS), new double-crystal monochromators are under development for use at the new Brazilian fourth-generation synchrotron, Sirius. The soldering technique used for the double-crystal monochromators ensures the union of monocrystalline silicon with FeNi alloy, Invar36 (64Fe-36Ni) from Grupo Metal and Invar39 (61Fe-39Fe) from Scientific Alloys, through SnSb (92.8Sn-7.

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The role of ultrasound (US) is extremely important in the early detection (diagnosis) of peritoneal catheter tunnel infection (TI) in subjects with catheter exit-site infection (ESI), also for the therapeutic follow up of tunnel infection and in particular to evaluate (assess) the prognosis in cases of deep infection. ESI is the major cause of peritonitis because it is associated to bacterial migration and overgrowth which involve deep cuff and then the tunnel. The use of US is now widely recognized, it allows the identification of persistent foci as hypoechoic pericatheter areas and specially to evaluate response to antibiotic therapy.

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Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis.

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Introduction: in hemodialysis (HD) patients, poor health-related quality of life (HR-QoL) is prevalent and associated with adverse outcomes. HR-QoL is strictly linked to nutritional status of HD patients. Hemodiafiltration with endogenous reinfusion (HFR) is an alternative dialysis technique that combines diffusion, convection and absorption.

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Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing loss with presumptive autosomal recessive (n = 50) or autosomal dominant (n = 50) patterns of inheritance.

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