► Fatigue ► Unintentional weight loss ► Pancytopenia.
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Dihydropyrimidine enzyme activity and its effect on chemotherapy toxicity: importance of genetic testing.
Cancer Chemother Pharmacol
January 2025
Markey Cancer Center, University of Kentucky, Lexington, KY, USA.
Purpose: Patients with partial or complete DPD deficiency have decreased capacity to degrade fluorouracil and are at risk of developing toxicity, which can be even life-threatening.
Case: A 43-year-old man with moderately differentiated rectal adenocarcinoma on capecitabine presented to the emergency department with complaints of nausea, vomiting, diarrhea, weakness, and lower abdominal pain for several days. Laboratory findings include grade 4 neutropenia (ANC 10) and thrombocytopenia (platelets 36,000).
Sealing the breach: successful surgical management of post-myocardial infarction left ventricular pseudoaneurysm.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Cardiology, G.B. Pant Institute of Postgraduate Medical Education & Research and associated Maulana Azad Medical College, Room No. 133, First Floor, Academic Block, New Delhi, India.
Left ventricular (LV) pseudoaneurysm, a rare occurrence, develops when a ruptured ventricle is encapsulated by the pericardium or scar tissue. Unlike free intrapericardial rupture, which often results in cardiac tamponade and fatal outcome, there are instances where the cardiac rupture remains contained, forming a pseudoaneurysm and averting immediate tamponade. We describe a 43-year-old male who underwent successful surgical repair of LV rupture following inferior wall myocardial infarction that resulted in the formation of a large pseudoaneurysm.
View Article and Find Full Text PDFKlippel-Trenaunay Syndrome: A Case Study of Severe Anemia in a Rare Vascular Disorder.
Cureus
December 2024
Internal Medicine Department, Hamad Medical Corporation, Doha, QAT.
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder involving varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and bones. It is often linked to gene mutations. It affects the lymphatic, capillary, and venous systems.
View Article and Find Full Text PDFIdentification of mutation of MYOC (c.1099G>A), a pedigree pathogenic gene of juvenile open angle glaucoma (JOAG): A case report.
Medicine (Baltimore)
November 2024
Department of Ophthalmology, Liaocheng People's Hospital, Liaocheng, Shandong, China.
Rationale: The MYOC gene is associated with juvenile open-angle glaucoma (JOAG). This study aims to provide genetic counseling for a Chinese JOAG family by detecting MYOC mutations to identify high-risk individuals for early JOAG intervention. It also supplements the clinical characteristics of glaucoma patients with MYOC gene mutations.
View Article and Find Full Text PDFMultiple parafoveal retinal detachment in myopic tractional maculopathy.
Taiwan J Ophthalmol
November 2024
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan.
This study investigates the occurrence of multiple parafoveal retinal detachments (RDs) in myopic traction maculopathy (MTM), emphasizing the atypical extrafoveal involvement compared to central foveal detachment commonly observed. Patient 1, a 46-year-old male, exhibited MTM with retinoschisis and four small subretinal fluid (SRF) pockets inferior to the fovea, accompanied by a hyperautofluorescent vitelliform deposit. Patient 2, a 43-year-old male, reported ring-shaped dim vision in the left eye, displaying MTM with six stable SRF pockets surrounding the fovea.
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