Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.2215/CJN.02680409 | 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 PDFA Novel Approach of Ultrasound-Guided Transforaminal Cervical Nerve Root Injection With Fluoroscopic Validation: A Case Report and Technical Illustration.
Cureus
December 2024
Pain and Rehabilitation, Regen Clinic, Taipei, TWN.
Cervical radiculopathies are commonly treated with nerve root injections. This study presents a novel ultrasound (US)-guided cervical transforaminal injection technique using a curved transducer to enhance visualization of the anterior wall of the superior articular process and achieve successful epidural spread of injection. A 56-year-old patient with chronic C6 radiculopathy was treated using our US-guided approach with a combination of 5% dextrose and vitamin B12, leading to significant improvement in symptoms.
View Article and Find Full Text PDFBecoming a leader for underserved patients-the importance of student run free clinics.
Front Health Serv
December 2024
Family & Community Medicine, University of California San Francisco, School of Medicine, San Francisco Angeles, CA, United States.
Many students enter medical school with aspirations of expanding healthcare to underserved communities and reducing healthcare access barriers; yet they lack the leadership skills to achieve this goal. This perspective discusses the role of student-run free clinics in developing medical students' leadership abilities-problem-solving, partnership building, planning, decision-making, and resource acquisition-to address the healthcare needs of marginalized patient populations. It also discusses how fostering leadership skills in the context of serving underserved patients also develops medical students' structural competency and thus awareness of how inequities embedded within hierarchies and social institutions shape health outcomes.
View Article and Find Full Text PDFTrichothiodystrophy Identified in a Child with an Odontogenic Infection.
J Dent Child (Chic)
September 2024
Department of Oral and Maxillofacial Surgery, Tufts University School of Dental Medicine, Boston, Mass., USA.
Article Synopsis
- Trichothiodystrophy (TTD) is a rare genetic disorder that presents with brittle hair, photosensitivity, scaly skin, and stunted growth, leading to a high mortality rate in children mainly due to infections.
- A case report highlights a five-year-old boy with these symptoms who was diagnosed with TTD after genetic testing during treatment for a dental infection.
- The report emphasizes the need for comprehensive evaluation of pediatric patients to improve diagnosis and care for genetic disorders like TTD, involving a collaborative approach among healthcare providers.
Want 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!