Previously reported cases of recurrent cellulitis/erysipelas affecting chronically lymphedematous skin regions have been demonstrated to be due to isolates with closely related genetic background which may be suggestive of relapse rather than reinfection. Herein, we report the occurrence of three episodes of repetitive cellulitis caused by strains with different genotypic and phenotypic characteristics, including different antimicrobial susceptibility patterns (tetracycline, macrolide/lincosamide, and fluoroquinolone classes), in the left upper extremity of a patient with lymphedema, following left mastectomy and axillary lymph node dissection. The genotypic and phenotypic characteristics of the three isolates were confirmed based on the random amplified polymorphic DNA patterns, DNA profiles of virulence factors (----), data on biofilm formation and cell invasion, antimicrobial susceptibility testing results, antimicrobial resistance (AMR) genotypes, and amino acid mutations associated with AMR. These results revealed that reinfection with , rather than recurrence, occurred during the three episodes. In conclusion, microbiologic studies such as blood cultures or tissue cultures are certainly helpful in the management of recurrent infections or invasive infections such as bacteremia in order to better target antimicrobial therapy, regardless of the data previously presented.
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http://dx.doi.org/10.1016/j.idcr.2020.e00793 | DOI Listing |
Expert Opin Drug Metab Toxicol
January 2025
Institute of Psychology, University of Innsbruck, Austria.
Introduction: The prevalence of polypharmacy and the increasing availability of pharmacogenetic information in clinical practice have raised the prospect of data-driven clinical decision making when addressing the issues of drug-drug interactions and genetic polymorphisms in metabolizing enzymes. Inhibition of metabolizing enzymes in drug interactions can lead to genotype-phenotype discrepancies (phenoconversion) that reduce the relevance of individual pharmacogenetic information.
Areas Covered: The aim of this review is to provide an overview on existing models of phenoconversion and we discuss how phenoconversion models may be developed to estimate joint drug-interactions and genetic effects.
Anim Biotechnol
December 2025
Division of Agricultural Bioinformatics, ICAR-Indian Agricultural Statistics Research Institute, New Delhi, India.
Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, Manipuri, Zanskari, Bhutia, Spiti, Kathiawari and Marwari were discovered using Axiom Equine Genotyping Array. These breeds differed in agro-climatic adaptation with distinct phenotypic characters.
View Article and Find Full Text PDFEquine Vet J
January 2025
UCD School of Agriculture and Food Science, University College Dublin, Dublin, Ireland.
Background: Equine recurrent laryngeal neuropathy (RLN) is an economically important upper respiratory tract (URT) disease with a genetic contribution to risk, but genetic variants independent of height have not been identified for Thoroughbreds. The method of clinical assessment for RLN is critical to accurately phenotype groups for genetic studies.
Objectives: To identify genetic risk loci for RLN in Thoroughbreds in a genome-wide association study (GWAS) following high-resolution phenotyping.
PeerJ
January 2025
Museum of Natural History, University of Wroclaw, Wroclaw, Poland.
Background: Legless lizards, the slow worms of the genus are forming secondary contact zones within their Europe-wide distribution.
Methods: We examined 35 populations of and to identify the level of morphological and genetic divergence in Poland. We applied a conventional study approach using metric, meristic, and categorial (coloration) features for a phenotype analysis, and two standard molecular markers, a mitochondrial (NADH-ubiquinone oxidoreductase chain 2; ) and a nuclear (V(D)J recombination-activating protein 1; ) one.
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
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