Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10985750 | PMC |
| http://dx.doi.org/10.5114/pg.2023.124519 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.
Cancer Chemother Pharmacol
January 2025
Service de Génomique des Tumeurs et Pharmacologie, Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris, Paris, France.
The enzyme dihydropyrimidine dehydrogenase (DPD) is the primary catabolic pathway of fluoropyrimidines including 5 fluorouracil (5FU) and capecitabine. Cases of lethal toxicity have been reported in cancer patients with complete DPD deficiency receiving standard dose of 5FU or capecitabine. DPD is encoded by the pharmacogene DPYD in which more than 200 variants have been identified.
View Article and Find Full Text PDFVery late onset narcolepsy type 1: a case report and review of the literature.
J Clin Sleep Med
December 2024
Geriatric Psychiatry, University Psychiatric Center KU Leuven, Leuven, Belgium.
Narcolepsy type 1 (NT1) is a clinical syndrome defined by recurrent episodes of excessive daytime sleepiness (EDS), episodes of cataplexy, hypnagogic hallucinations, and sleep paralysis. Symptoms typically manifest in the second or third decade with another small peak in the fourth decade. In this report we describe the case of a 64-year-old woman presenting with new-onset visual hallucinations as the main complaint.
View Article and Find Full Text PDFLung cancer associated with cystic airspaces: A contemporary review.
Tuberk Toraks
December 2024
Department of Thoracic Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Lung cancers associated with cystic airspaces (LCCAs) are a rare and relatively novel concept analyzed in various case reports and retrospective studies. In this review, it was our aim to investigate the morphologic, imaging, and clinicopathologic characteristics of this entity, as well as its natural course in light of the current literature. Literature search including the years 2000-2022 was conducted in PubMed.
View Article and Find Full Text PDFTwo different diseases in two adolescent girls with the same clinic: Allergic bronchopulmonary aspergillosis.
Tuberk Toraks
December 2024
Division of Pediatric Pulmonology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Türkiye.
Allergic bronchopulmonary aspergillosis (ABPA) is a complex hypersensitivity reaction observed in asthma as well as cystic fibrosis (CF) patients due to the colonization of the airways by Aspergillus fumigatus. While ABPA is most commonly observed in CF patients (2-9%), it is seen at a rate of 1-2% in patients diagnosed with asthma. ABPA is mostly seen in steroid dependent adult asthma patients and has rarely been reported in pediatric asthma patients.
View Article and Find Full Text PDFUse of radial endobronchial ultrasonography in the distinction between intraluminal and mixed type tracheal schwannoma: A case report.
Tuberk Toraks
December 2024
Clinic of Pulmonary Medicine, Liv Vadi İstanbul Hospital, İstanbul, Türkiye.
Tracheal schwannomas are exceedingly rare, accounting for a minute fraction of primary tracheal tumors. They are classified into intraluminal and mixed types, with treatment strategies varying significantly between these subtypes. While thorax tomography is usually sufficient to distinguish intraluminal and mixed type, endobronchial ultrasonography (EBUS) can also be used in cases where the distinction cannot be made clearly with tomography.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!