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Phototoxic reaction to oral terbinafine due to Tinea capitis in a child.
Acta Dermatovenerol Croat
November 2024
Prof. Ana Bakija-Konsuo, MD, PhD, Clinic for Dermatovenerology CUTIS, Vukovarska 22, Dubrovnik, Croatia;
We report the case of an 18-month-old boy who developed a phototoxic skin reaction to terbinafine on his scalp, ears, and face in the form of disseminated erythematous plaques, which resembled subacute lupus erythematosus (SCLE) in their clinical presentation. Skin changes appeared a short time after the boy was exposed to sunlight during the period of time when he was treated with oral terbinafine due to Microsporum canis fungal scalp infection. Tinea capitis is a common dermatophyte infection primarily affecting prepubertal children (1).
View Article and Find Full Text PDFInferior sectoral chorioretinopathy in two patients with novel heterozygous mutations.
Ophthalmic Genet
January 2025
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
Characterization of glucagon-like peptide-1 (GLP-1) agonist exposures reported to a single United States poison center.
Clin Toxicol (Phila)
January 2025
Rocky Mountain Poison and Drug Safety Center, Denver, CO, USA.
Introduction: Glucagon-like peptide-1 agonists have gained attention in recent years due to their efficacy in managing type II diabetes mellitus and their emerging role in weight management. The purpose of this study was to characterize glucagon-like peptide-1 agonist exposures reported to a single United States regional poison center over nine years, including causes of exposure, associated clinical effects, and potential areas for improving patient education and safety.
Methods: This retrospective cohort study analyzed all poison center calls involving glucagon-like peptide-1 agonists submitted to a single United States regional poison center from 14 January 2014 to 1 May 2023.
The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.
View Article and Find Full Text PDFPhenotype and genetic spectrum of six Indian patients with bestrophinopathy.
Taiwan J Ophthalmol
December 2024
Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled.
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