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Dihydropyrimidine dehydrogenase polymorphisms in patients with gastrointestinal malignancies and their impact on fluoropyrimidine tolerability: Experience from a single Italian institution.
World J Gastrointest Oncol
January 2025
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples 80131, Campania, Italy.
Background: Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase (DPD), encoded by the gene. About 7% of the European population is a carrier of gene polymorphisms associated with reduced DPD enzyme activity.
Aim: To assess the prevalence of polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.
Mineralocorticoid axis activity and cardiac remodeling in patients with ACTH dependent Cushing's syndrome.
Endocr Connect
January 2025
P Kamenický, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin-Bicêtre, 94275, France.
Background: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity could be involved as potential mechanisms in their pathogenesis, in addition to cortisol excess.
Methods: In this ancillary study of our previous study prospectively investigating patients with ACTH-dependent Cushing's syndrome by cardiac magnetic resonance imaging (NCT02202902), 11 patients without any interfering medication were cross-sectionally compared to 20 control subjects matched for age, sex and body mass index.
Evaluation of Polygenic Risk Score for Prediction of Childhood Onset and Severity of Asthma.
Int J Mol Sci
December 2024
Institute of Biochemistry and Genetics, Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.
Asthma is a common complex disease with susceptibility defined through an interplay of genetic and environmental factors. Responsiveness to asthma treatment varies between individuals and is largely determined by genetic variability. The polygenic score (PGS) approach enables an individual risk of asthma and respective response to drug therapy.
View Article and Find Full Text PDFOptimization of antidepressant treatment by pharmacogenomics: a case report.
BMC Psychiatry
January 2025
Institute of Mental Health, Peking University Sixth Hospital, Beijing, 100191, China.
Background: Few new psychiatric drugs have entered the market in recent decades; in contrast, the number of drugs carrying pharmacogenomic labels continues to increase. For the foreseeable future, the advancement of psychiatry and drug therapy may hinge on personalized treatment. Currently, antipsychotic or antidepressant choices rely heavily on the clinical experience of psychiatrists and potentially lengthy iterative trials.
View Article and Find Full Text PDFAssociation of Matrix Metalloproteinases Polymorphisms with Glaucoma Risk, Glaucoma Phenotype, and Response to Treatment with Selective Laser Trabeculoplasty or Latanoprost.
Int J Mol Sci
December 2024
Department of Ophthalmology, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.
In open-angle glaucoma, the increase in intraocular pressure (IOP) is caused by an increased resistance to aqueous humour outflow in the trabecular meshwork. Since genetic variability of matrix metalloproteinase (MMP) genes may influence extracellular matrix remodelling, we investigated their association with glaucoma risk and/or response to treatment. The retrospective part of the study included patients with primary open-angle glaucoma and ocular hypertension (OHT); in the prospective part of the study, newly diagnosed patients with POAG or OHT were randomised to receive either latanoprost or selective laser trabeculoplasty (SLT) as the initial treatment.
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