RESUMO
Nocardia is a rare opportunistic pathogen that primarily affects the skin, lungs, and central nervous system. Intraocular infection caused by Nocardia species is a rare event in individuals who are immunocompetent. We herein present a case of a female individual who is immunocompetent, with a left eye injury caused by a contaminated nail. Unfortunately, this exposure history was not recognized at the initial visit, which led to a delay in diagnosis and the eventual development of intraocular infections with multiple hospital admissions in a short period of patients. A definitive diagnosis of Nocardia brasiliensis by matrix-assisted laser desorption ionization-time of flight mass spectrometry. With the original intention of reporting the case, we hope that physicians should be aware of rare pathogen infections, especially when conventional antibiotic therapy is ineffective, to avoid untimely treatment and poor prognosis. Furthermore, matrix-assisted laser desorption ionization-time of flight mass spectrometry or next-generation sequencing should be considered as new techniques for identifying pathogens.
Assuntos
Nocardiose , Nocardia , Humanos , Feminino , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Nocardiose/diagnóstico , Nocardiose/tratamento farmacológico , Antibacterianos/uso terapêuticoRESUMO
BACKGROUND: The genetic underpinnings of glycemic traits have been understudied in adolescent and Hispanic/Latino (H/L) populations in comparison to adults and populations of European ancestry. OBJECTIVE: To identify genetic factors underlying glycemic traits in an adolescent H/L population. METHODS: We conducted a genome-wide association study (GWAS) of fasting glucose (FG) and fasting insulin (FI) in H/L adolescents from the Santiago Longitudinal Study. RESULTS: We identified one novel variant positioned in the CSMD1 gene on chromosome 8 (rs77465890, effect allele frequency = 0.10) that was associated with FI (ß = -0.299, SE = 0.054, p = 2.72×10-8 ) and was only slightly attenuated after adjusting for body mass index z-scores (ß = -0.252, SE = 0.047, p = 1.03×10-7 ). We demonstrated directionally consistent, but not statistically significant results in African and Hispanic adults of the Population Architecture Using Genomics and Epidemiology Consortium. We also identified secondary signals for two FG loci after conditioning on known variants, which demonstrate allelic heterogeneity in well-known glucose loci. CONCLUSION: Our results exemplify the importance of including populations with diverse ancestral origin and adolescent participants in GWAS of glycemic traits to uncover novel risk loci and expand our understanding of disease aetiology.
Assuntos
Estudo de Associação Genômica Ampla , Insulina , Adolescente , Glicemia , Chile , Jejum , Frequência do Gene , Humanos , Insulina/sangue , Estudos Longitudinais , Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único , Proteínas Supressoras de Tumor/genéticaRESUMO
Insulin sensitivity, insulin secretion, insulin clearance, and glucose effectiveness exhibit strong genetic components, although few studies have examined their genetic architecture or influence on type 2 diabetes (T2D) risk. We hypothesized that loci affecting variation in these quantitative traits influence T2D. We completed a multicohort genome-wide association study to search for loci influencing T2D-related quantitative traits in 4,176 Mexican Americans. Quantitative traits were measured by the frequently sampled intravenous glucose tolerance test (four cohorts) or euglycemic clamp (three cohorts), and random-effects models were used to test the association between loci and quantitative traits, adjusting for age, sex, and admixture proportions (Discovery). Analysis revealed a significant (P < 5.00 × 10(-8)) association at 11q14.3 (MTNR1B) with acute insulin response. Loci with P < 0.0001 among the quantitative traits were examined for translation to T2D risk in 6,463 T2D case and 9,232 control subjects of Mexican ancestry (Translation). Nonparametric meta-analysis of the Discovery and Translation cohorts identified significant associations at 6p24 (SLC35B3/TFAP2A) with glucose effectiveness/T2D, 11p15 (KCNQ1) with disposition index/T2D, and 6p22 (CDKAL1) and 11q14 (MTNR1B) with acute insulin response/T2D. These results suggest that T2D and insulin secretion and sensitivity have both shared and distinct genetic factors, potentially delineating genomic components of these quantitative traits that drive the risk for T2D.