Von Hippel-Lindau syndrome is an autosomal dominant and familial multisystemic syndrome that is caused by the inactivation of the VHL gene and it is characterized by diverse types of high vasculated tumors of benign and malign nature. This paper reports the clinical characteristics and prenatal diagnosis of a woman with von Hippel-Lindau syndrome, who constitutes the first exclusion prenatal case by DNA analysis of the Von Hippel-Lindau syndrome in Latin-American population.
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New Developments in VHL-Associated Neuroendocrine Neoplasms.
Curr Oncol Rep
January 2025
Neuroendocrine Tumour Unit, ENETS Centre of Excellence, 1st Department of Propaedeutic and Internal Medicine, Laiko Hospital, National and Kapodistrian University of Athens, Agiou Thoma 17, Athens, 11527, Greece.
Purpose Of Review: The purpose of this review is to outline the current knowledge on epidemiology, diagnosis and management of neuroendocrine neoplasms (NENs) that develop in the context of Von Hippel-Lindau (VHL) syndrome.
Recent Findings: Pancreatic NENs develop in 8-17% of VHL patients (vPNENs) and are mostly multi-focal, cystic and non-functioning. Surgical resection is recommended for vPNENS > 3 cm that exhibit higher metastatic potential or in tumors with short doubling time while in the 20% of cases with metastatic disease the HIF-2 A inhibitor belzutifan is considered a promising option.
Belzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.
J Vitreoretin Dis
December 2024
Dartmouth Hitchcock Medical Center, Department of Surgery, Ophthalmology Section, Lebanon, NH, USA.
To describe the efficacy of belzutifan as a treatment for juxtapapillary retinal hemangioblastomas in patients with von Hippel-Lindau disease. A case and its findings were analyzed, and a systematic literature review was conducted using PubMed and Ovid MEDLINE. At a routine follow-up, a 63-year-old woman with a history of von Hippel-Lindau disease and slowly progressive bilateral juxtapapillary retinal hemangioblastomas presented with decreased visual acuity (VA) in the right eye resulting from significant lesion growth and an increase in central macular edema and exudate.
View Article and Find Full Text PDFSOCS domain targets ECM assembly in lung fibroblasts and experimental lung fibrosis.
Sci Rep
December 2024
Department of Chemistry and Biochemistry, Northern Arizona University, Flagstaff, AZ, USA.
Idiopathic pulmonary fibrosis (IPF) is a fatal disease defined by a progressive decline in lung function due to scarring and accumulation of extracellular matrix (ECM) proteins. The SOCS (Suppressor Of Cytokine Signaling) domain is a 40 amino acid conserved domain known to form a functional ubiquitin ligase complex targeting the Von Hippel Lindau (VHL) protein for proteasomal degradation. Here we show that the SOCS conserved domain operates as a molecular tool, to disrupt collagen and fibronectin fibrils in the ECM associated with fibrotic lung myofibroblasts.
View Article and Find Full Text PDFNanoscale Systems for Local Activation of Hypoxia-Inducible Factor-1 Alpha: A New Approach in Diabetic Wound Management.
Int J Nanomedicine
December 2024
Department of Pharmaceutics, Faculty of Pharmacy, Delta University for Science and Technology, Gamasa, 11152, Egypt.
Chronic wounds in diabetic patients experience significant clinical challenges due to compromised healing processes. Hypoxia-inducible factor-1 alpha (HIF-1α) is a critical regulator in the cellular response to hypoxia, enhancing angiogenesis and tissue restoration. Nevertheless, the cellular response to the developed chronic hypoxia within diabetes is impaired, likely due to the destabilization of HIF-1α via degradation by prolyl hydroxylase domain (PHD) enzymes.
View Article and Find Full Text PDFPheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.
Clin Endocrinol (Oxf)
December 2024
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission of the People's Republic of China, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Objectives: Pheochromocytomas and paragangliomas (PPGLs) are manifestations of von Hippel-Lindau (VHL) disease. This study aims to describe the clinical features of PPGLs in VHL patients and the distinctions between VHL disease-related PPGLs and sporadic PPGLs.
Design, Patients And Measurements: The study included all patients with VHL disease and PPGLs treated in a single centre from 2007 to 2023.
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