J Clin Res Pediatr Endocrinol
December 2024
Neonatal diabetes is an infrequent disorder that may present as transient, permanent, or syndromic. It is most commonly caused by pathogenic variants involving the ABCC8, KCNJ11, and INS genes. To describe a neonate with permanent diabetes mellitus due to a previously unreported variant in the INS gene, outlining the diagnostic complexities, therapeutic interventions, and related clinical challenges.
View Article and Find Full Text PDFSingle-cell DNA sequencing has the potential to reveal detailed hierarchical structures in evolving populations of cells. Single cell approaches are increasingly used to study clonal evolution in human ageing and cancer but have not yet been deployed to study evolving clonal microbial populations. Here, we present an approach for single bacterial genomic analysis for evolution experiments using FACS isolation of individual bacteria followed by whole-genome amplification and sequencing.
View Article and Find Full Text PDFWe report a case of granulomatous mastitis caused by Mycobacterium tuberculosis in an immunocompetent woman with chronic inflammatory lesions of the breast. It was diagnosed by detection of mycobacteria DNA using polymerase chain reaction technique targeting IS6110 insertion element of M. tuberculosis complex in a paraffin-embedded histological specimen.
View Article and Find Full Text PDFMycobacterium avium complex (MAC) consists of 9 species of slow-growing mycobacteria with differing degrees of pathogenicity, host preference and environmental distribution. Mycobacterium colombiense is a novel member of MAC that is responsible for disseminated infections in HIV-infected patients in Colombia and lymphadenopathy cases in Europe. At present, methods to easily differentiate novel members of MAC are lacking.
View Article and Find Full Text PDFWith an incidence of 25.6/100,000 in 2008, tuberculosis (TB) remains an important public health problem in Colombia. In this study, a total of 152 Mycobacterium tuberculosis complex strains isolated in Bogotá, Colombia between years 1995 and 2007 were genotyped by spoligotyping and 12-loci MIRU-VNTRs.
View Article and Find Full Text PDFThis report describes a first case due to a genetically distinct and relatively rare "Beijing-like" strain of Mycobacterium tuberculosis isolated from a 15 years old female patient who died shortly after the initiation of antituberculous therapy with second-line drugs. Positive cultures obtained from lung, kidney and adrenal glands upon autopsy were identified as Mycobacterium tuberculosis complex characterized by an identical 15-banded IS6110-RFLP pattern, and were found to be resistant to all the 4 first-line antituberculous drugs tested (rifampin, isoniazid, ethambutol and streptomycin). Spoligotyping followed by comparison with the SITVIT2 database revealed that the isolate belonged to a rare pattern identified as Spoligotype International Type SIT190, which represents only 1.
View Article and Find Full Text PDFRev Salud Publica (Bogota)
October 2008
Objective: Characterising clinical Mycobacterium tuberculosis isolates obtained from 1995 to 2006 in Bogotá , Colombia , using standardised IS6110-based RFLP typing for determining phylogenetic relationships. Calculating cases due to recent infection (grouped cases) cf endogenous reactivation (single patterns).
Methods: This retrospective study characterised 137 clinical Mycobacterium tuberculosis isolates obtained in Bogotá from 1995 to 2006.
Dengue is a growing public health problem in many tropical and subtropical countries worldwide. At present, the only method of controlling or preventing the disease is to eliminate its vector, Aedes aegypti (L.) (Diptera: Culicidae).
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