Angiomatis retinae is diagnosed in a diabetic woman on routine diabetic retinopathy screening.
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Characterization of the Pheochromocytoma-Predominant Subgroup of von Hippel-Lindau Disease.
Urology
March 2025
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address:
Objective: To define a classification schema for von Hippel-Lindau patients who have a pheochromocytoma predominant phenotyope.
Materials And Methods: Von Hippel-Lindau patients who underwent adrenalectomy with pathology-proven pheochromocytoma at our institution were included. We defined pheochromocytoma-predominant von Hippel-Lindau a priori as patients with one or more of the following traits: early onset [age at first pheochromocytoma below the cohort's median age (28.
Recanalization and interventional stenting of a closed ductus arteriosus in pulmonary hypertension associated with von Hippel-Lindau disease: a case report.
Cardiol Young
March 2025
Department of Pediatric Cardiology, Ankara Bilkent City Hospital, Ankara, Turkey.
Pulmonary arterial hypertension remains a progressive, life-threatening condition despite advances in medical treatments. We report the first case of the interventional creation of a reverse Potts shunt by stenting a closed ductus arteriosus in a four-year-old child with right ventricular failure due to suprasystemic pulmonary arterial hypertension associated with Von Hippel-Lindau disease, unresponsive to triple anti-pulmonary arterial hypertension therapy. Following the procedure, the patient's clinical status and echocardiographic systolic and diastolic right ventricular function improved.
View Article and Find Full Text PDF"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
Oncologist
March 2025
Division of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.
Increasing accessibility to genetic screening for cancer risk can lead to earlier surveillance and prevention, but with this comes the caveat of incidental identification of germline pathogenic gene variants. Here, we report a single institution case series of 6 otherwise healthy individuals with "incidental" Von Hippel Lindau (VHL) disease. These patients were found to have pathogenic germline variants in the VHL gene, after undergoing genetic testing for other purposes (5 for familial breast cancer risk and 1 to determine ancestry) but no VHL disease-associated tumors.
View Article and Find Full Text PDFVon Hippel-Lindau syndrome with bilateral renal and an interaortocaval mass.
BMJ Case Rep
March 2025
Urology, AIIMS New Delhi, New Delhi, Delhi, India
Patients with bilateral renal masses and an interaortocaval mass (IACM) present a complex scenario where, in addition to renal masses, management of the IACM adds to challenges in an already challenging case. A young man in his 30s presented with left flank pain, associated with loss of appetite, headache and sweating. The evaluation revealed multiple renal masses in the right kidney, a large mass in the left kidney and an IACM.
View Article and Find Full Text PDFA phase I dose escalation study of the HIF-2 alpha inhibitor DFF332 in patients with advanced clear cell renal cell carcinoma.
Clin Cancer Res
March 2025
The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Background: Mutations or silencing of the von Hippel Lindau (VHL) tumor suppressor gene accumulates hypoxia-inducible factors (HIFs). HIF-2α is implicated in the oncogenesis of ~50% of patients with clear cell renal cell carcinoma (ccRCC) but, has been considered "undruggable". DFF332, an orally administered novel allosteric inhibitor of HIF-2α showed dose-dependent antitumor efficacy in preclinical models of ccRCC.
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