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and Beyond: Impact on Therapeutic Choices Across Cancer.
Cancers (Basel)
December 2024
Division of Medical Oncology, National Cancer Centre Singapore, 30 Hospital Blvd, Singapore 168583, Singapore.
Background: Identifying patients with gm is crucial to facilitate screening strategies, preventive measures and the usage of targeted therapeutics in their management. This review examines the evidence for the latest predictive and therapeutic approaches in -associated cancers.
Clinical Description: Data supports the use of adjuvant olaparib in patients with gm high-risk HER2-negative breast cancer.
Potential and emerging therapeutics for HHT.
Hematology Am Soc Hematol Educ Program
December 2024
Department of Medicine, Division of Hematology, University of North Carolina School of Medicine, Chapel Hill, NC.
A 64-year-old woman with hereditary hemorrhagic telangiectasia (HHT) characterized by a pathological variant in ACVRL1 presents to the clinic for follow-up. Manifestations of HHT include frequent epistaxis and gastrointestinal bleeding, leading to iron-deficiency anemia. Bevacizumab is initiated, with resolution of the anemia.
View Article and Find Full Text PDFHereditary hemorrhagic telangiectasia: A pediatric-focused review.
Semin Pediatr Neurol
December 2024
Department of Pediatrics, University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, United States. Electronic address:
Article Synopsis
- Clinical manifestations of hereditary hemorrhagic telangiectasia (HHT) involve vascular malformations affecting various organs, increasing the risk of bleeding and related complications.
- Diagnosis is based on the Curaçao criteria, which includes symptoms like nosebleeds and family history, and most patients carry pathogenic variants in specific genes.
- While there is no cure for HHT, treatment options focus on managing complications, including medication and, in some cases, surgical interventions when deemed necessary.
Gastrointestinal Bleeding/Angiodysplasia in Patients With Glanzmann Thrombasthenia.
J Med Cases
December 2024
Madinah Hereditary Blood Disorders Centre, Department of Hematology and Oncology, King Salman Bin Abdulaziz Medical City, Madinah, Saudi Arabia.
Article Synopsis
- * A rare complication of GT is gastrointestinal angiodysplasia (GIAD), which involves abnormal blood vessel formation in the digestive system and has been documented in eight cases.
- * Treatment options for GIAD include surgical methods, electrocoagulation, and medications, but it has a high chance of recurring, as demonstrated in reported cases of patients with both GT and gastrointestinal bleeding.
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant, multisystem disorder that manifests with a spectrum of disease including cardiopulmonary complications. HHT is characterised by aberrant signalling via the transforming growth factor β (TGFβ) pathway, with loss of vascular integrity, angiogenesis and vascular dysplasia. The disease has an estimated prevalence of 1 in 5000 persons and the penetrance increases with increasing age.
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