Gallium-67 Imaging In A Patient With Paracoccidioidomycosis: A Case Report

A 26 year-old female was admitted with abdominal pain, fever and weight loss. The clinical and laboratory investigations led to the diagnosis of paracoccidioidomycosis. Gallium-67 whole body images correlated well with the clinical course of the disease and with the patient's prognosis.423167170Barbosa, W., Paracoccidioidomicose (Blastomicose sul-americana) (1989), pp. 653-662. , AMATO NETO, V. & BALDY, J.L.S., ed. Doenças transmissíveis. 3. ed. São Paulo, SarvierBarbosa, W., Daher, R.R., Blastomicose sul-americana (Paracoccidioidomicose) (1995), pp. 634-646. , VERONESI, R.FOCACCIA, R. & DIETZE, R., ed. Doenças infecciosas e parasitárias. 8. ed. São Paulo, Guanabara-KooganBecker, W., The contribution of nuclear medicine to the patient with infection (1995) Europ. J. Nucl. Med., 22, pp. 1195-1211Bethlem, N.M., Lemle, A., Bethlem, E., Wanke, B., Paracoccidioidomycosis (1991) Semin. Resp. Med., 12, pp. 81-97Braga, F.J.H.N., Abreu, P.R., Rivitti, M.C.M., La paracoccidioidomycose chéloide étudiée avec le gallium (1992) Bull. Soc. Path. Exot., 85, pp. 118-119Braga, F.J.H.N., Camargo, E.E., Segurado, A.A.C., La paracoccidioidomycose évaluée par quatre études isotopiques (1992) Bull. Soc. Path. Exot., 85, pp. 115-117Dayaniki, B.F., Weissman, A.F., Wahl, R.L., Successful gallium-67 imaging of North American pulmonary blastomycosis (1993) J. Nucl. Med., 34, pp. 958-960Del Negro, G.M.B., Garcia, N.M., Rodrigues, E.G., The sensitivity, specificity and efficiency values of some serological tests used in the diagnosis of paracoccidioidomycosis (1991) Rev. Inst. Med. Trop. S. Paulo, 33, pp. 277-280Giorgi, M.C.P., Camargo, E.E., Pinto, W.P., Del Negro, G., Gallium-67 imaging in the diagnosis of blastomycosis (1987) Europ. J. Nucl. Med., 13, pp. 300-304Negroni, R., Paracoccidioidomycosis (1993) Int. J. Derm., 32, pp. 847-859Palestro, C.J., The current role of gallium imaging in infection (1994) Semin. Nucl. Med., 24, pp. 128-141Peters, A.M., The use of nuclear medicine in infections (1998) Brit. J. Radiol., 71, pp. 252-26

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes