Publications by authors named "O Gunes"
DNMT3A-related overgrowth syndrome presenting with immune thrombocytopenic purpura.
Curr Res Transl Med
November 2024
Article Synopsis
- Tatton-Brown-Rahman syndrome (TBRS) is a genetic condition characterized by excessive growth, learning difficulties, and unique facial characteristics linked to mutations in the DNMT3A gene.
- A case study presented a four-year-old girl with a novel DNMT3A mutation who also experienced immune thrombocytopenic purpura (ITP), a condition that affects blood platelet levels.
- The report highlights the potential connection between TBRS and autoimmune disorders like ITP, suggesting that these health issues should be monitored in TBRS patients, but more research is needed to confirm this link.
Current data on fosfomycin usage in children are limited. We present data on the clinical use of intravenous (IV) fosfomycin in children. Hospitalized patients who received ≥3 days of IV fosfomycin between April 2021 and March 2023 were analyzed retrospectively.
View Article and Find Full Text PDFThis study aimed to retrospectively evaluate the baseline and follow-up viral loads and viral clearance times in cases followed for asymptomatic and symptomatic congenital cytomegalovirus (cCMV) infection between August 2010 and August 2022. Among 93 cases, they had asymptomatic (n: 55) and symptomatic (n: 38). The median baseline blood viral load detected in the symptomatic cCMV (ScCMV) infection (13 054 IU/mL) was significantly higher than that of asymptomatic cCMV (AcCMV) infection (4636 IU/mL) (p < 0.
View Article and Find Full Text PDFThe use of standardised phenotyping screens to identify abnormal phenotypes in mouse knockouts, together with the use of ontologies to describe such phenotypic features, allows the implementation of an automated and unbiased pipeline to identify new models of disease by performing phenotype comparisons across species. Using data from the International Mouse Phenotyping Consortium (IMPC), approximately half of mouse mutants are able to mimic, at least partially, the human ortholog disease phenotypes as computed by the PhenoDigm algorithm. We found the number of phenotypic abnormalities in the mouse and the corresponding Mendelian disorder, the pleiotropy and severity of the disease, and the viability and zygosity status of the mouse knockout to be associated with the ability of mouse models to recapitulate the human disorder.
View Article and Find Full Text PDFBackground: Herbaspirillum species are nonfermenting, aerobic, helical or curved, Gram-negative bacteria belonging to the class Betaproteobacteria, order Burkholderiales. To date, only a few studies have reported on the epidemiology, clinical symptoms, antibiotic susceptibility profiles, treatment and outcomes of Herbaspirillum huttiense -related infections in pediatric patients.
Methods: The aim of this study was to present 3 years of H.