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Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Endocrinology and Metabolic Diseases, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Background: Gaucheromas, pseudotumors composed of Gaucher cells, are rare complications of Gaucher's Disease (GD). They are usually seen in patients receiving enzyme replacement. Surgery is generally not recommended for these benign masses in treatment management.
View Article and Find Full Text PDFAn Atypical Case of Marchiafava-Bignami Disease in a Young Chronic Alcoholic: Challenges in Diagnosis and Prognosis.
Cureus
December 2024
Critical Care Medicine, Springfield Clinic, Springfield, USA.
A 27-year-old male patient with chronic alcohol use disorder was diagnosed with Marchiafava-Bignami disease (MBD) after experiencing an episode of unconsciousness. MRI scans revealed lesions in the corpus callosum and adjacent white matter. Despite prompt initiation of intensive treatment with high-dose thiamine and corticosteroids, the patient only partially recovered, remaining disoriented and exhibiting persistent neurological deficits during follow-up.
View Article and Find Full Text PDFThe Impact of Inferior Vena Cava Anomalies on Deep Vein Thrombosis: A Case Report.
Cureus
December 2024
Cardiology, Lower Bucks Hospital, Bristol, USA.
Inferior vena cava (IVC) anomalies are rare congenital pathologies related to variations of agenesis, hypoplasia, or atresia, predisposing patients to thromboembolic events secondary to an alteration in venous drainage with resultant stasis. This is a case report of a 27-year-old male without significant medical history presenting for a fall after playing recreational basketball with associated pain and swelling in his left lower extremity. After his symptoms progressively worsened, he came to the emergency room for an evaluation where an ultrasound (US) of the extremity showed extensive deep vein thromboses (DVT).
View Article and Find Full Text PDFGlanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
View Article and Find Full Text PDFOsteochondritis Dissecans in the Medial Femoral Condyle: A Case Report and Review of the Role of Autogenous Mosaicplasty in Articular Cartilage Repair.
Cureus
December 2024
Orthopaedics, King Saud University, Riyadh, SAU.
Osteochondritis dissecans is a rare condition characterized by the deterioration of a small area of bone and cartilage without infection. Its exact cause is unclear, though factors such as abnormal bone development, joint pressure, repetitive injuries, inadequate blood supply, and genetic links have been observed. In this case, a 27-year-old woman experienced chronic right knee pain following a twisting injury, which led to reduced mobility and mild pain.
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