المؤلفون: Faria Pereira, Ana¹ (AUTHOR) acfariapereira@gmail.com, Teixeira-Martins, Rita¹ (AUTHOR), Rocha-Sousa, Amandio^1,2 (AUTHOR), Penas, Susana^1,2 (AUTHOR)

المصدر: Case Reports in Ophthalmology. Dec2024, Vol. 16 Issue 1, p27-36. 10p. 3 Illustrations.

مصطلحات موضوعية: *LASER photocoagulation, *VON Hippel-Lindau disease, *INTRAVITREAL injections, *VISION disorders, *ASYMPTOMATIC patients

المؤلفون: Wiley, Henry E.¹ (AUTHOR), Srinivasan, Ramaprasad² (AUTHOR), Maranchie, Jodi K.³ (AUTHOR), Chhablani, Jay⁴ (AUTHOR), Iversen, Ane Bundsbæk Bøndergaard⁵ (AUTHOR), Kruse, Anders⁶ (AUTHOR), Jonasch, Eric⁷ (AUTHOR), Gombos, Dan S.⁸ (AUTHOR), Else, Tobias⁹ (AUTHOR), Demirci, Hakan¹⁰ (AUTHOR), Maughan, Benjamin L.¹¹ (AUTHOR), Hartnett, M. Elizabeth^12,13 (AUTHOR), Coleman, Hanna R.^14,15 (AUTHOR), Fu, Wei¹⁶ (AUTHOR), Perini, Rodolfo F.¹⁶ (AUTHOR), Liu, Yanfang¹⁶ (AUTHOR), Linehan, W. Marston¹⁷ (AUTHOR), Chew, Emily Y.¹ (AUTHOR) echew@nei.nih.gov

المصدر: Ophthalmology. Nov2024, Vol. 131 Issue 11, p1324-1332. 9p.

مصطلحات موضوعية: *VON Hippel-Lindau disease, *RENAL cell carcinoma, *HYPOXIA-inducible factors, *HEMANGIOBLASTOMAS, *DISEASE progression

المؤلفون: Jankovic, Dragan^1,2 (AUTHOR), Selimovic, Ema³ (AUTHOR), Kuharic, Marin⁴ (AUTHOR), Splavski, Bruno⁵ (AUTHOR), Rotim, Kresimir^2,6,7 (AUTHOR), Arnautovic, Kenan I.^1,8,9 (AUTHOR) kenanarnaut@yahoo.com

المصدر: World Neurosurgery. Nov2024, Vol. 191, p119-127. 9p.

مصطلحات موضوعية: *POSTERIOR cranial fossa, *VON Hippel-Lindau disease, *CENTRAL nervous system, *CERVICAL vertebrae, *LUMBAR vertebrae

المؤلفون: Jang, Hyun-Jun¹ (AUTHOR), Moon, Bong-Ju¹ (AUTHOR), Kim, Kyung-Hyun¹ (AUTHOR), Park, Jeong-Yoon¹ (AUTHOR), Chin, Dong-Kyu¹ (AUTHOR), Cho, Yong-Eun² (AUTHOR), Kim, Keun-Su¹ (AUTHOR) spinekks@yuhs.ac

المصدر: Journal of Korean Neurosurgical Society. Nov2024, Vol. 67 Issue 6, p637-645. 9p.

مصطلحات موضوعية: *VON Hippel-Lindau disease, *BENIGN tumors, *CLINICAL deterioration, *SPINAL cord, *PROGNOSIS

المؤلفون: Hwang, Sungsoon¹ (AUTHOR), Kang, Se Woong¹ (AUTHOR), Kim, Jong-Won^2,3 (AUTHOR), Kim, Sang Jin¹ (AUTHOR) sangjin.kim.md@gmail.com

المصدر: PLoS ONE. 10/7/2024, Vol. 19 Issue 10, p1-11. 11p.

مصطلحات موضوعية: *VON Hippel-Lindau disease, *TECHNICAL reports, *BINDING sites, *GENETIC mutation, *KOREANS

المصدر: A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas
Lonser RR, Butman JA, Huntoon K, Asthagiri AR, Wu T, Bakhtian KD, Chew EY, Zhuang Z, Linehan WM, Oldfield EH. Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. J Neurosurg. 2014 May;120(5):1055-62. doi: 10.3171/2014.1.JNS131431. Epub 2014 Feb 28.

المصدر: NEI Intramural Biorepository for Retinal Diseases

المصدر: A Phase 2 Study to Evaluate the Efficacy and Safety of Belzutifan (MK-6482, Formerly PT2977) Monotherapy in Participants With Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Advanced Solid Tumors With HIF-2α Related Genetic Alterations

Other URLs: http://engagezone.msd.com/ds_documentation.php

المصدر: Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors

المصدر: Electromagnetic Tracking of Devices During Interventional Procedures
Seiler PG, Blattmann H, Kirsch S, Muench RK, Schilling C. A novel tracking technique for the continuous precise measurement of tumour positions in conformal radiotherapy. Phys Med Biol. 2000 Sep;45(9):N103-10. doi: 10.1088/0031-9155/45/9/402.
Frantz DD, Wiles AD, Leis SE, Kirsch SR. Accuracy assessment protocols for electromagnetic tracking systems. Phys Med Biol. 2003 Jul 21;48(14):2241-51. doi: 10.1088/0031-9155/48/14/314.
Solomon SB, White P Jr, Wiener CM, Orens JB, Wang KP. Three-dimensional CT-guided bronchoscopy with a real-time electromagnetic position sensor: a comparison of two image registration methods. Chest. 2000 Dec;118(6):1783-7. doi: 10.1378/chest.118.6.1783.
Ahdoot M, Lebastchi AH, Long L, Wilbur AR, Gomella PT, Mehralivand S, Daneshvar MA, Yerram NK, O'Connor LP, Wang AZ, Gurram S, Bloom J, Siddiqui MM, Linehan WM, Merino M, Choyke PL, Pinsky P, Parnes H, Shih JH, Turkbey B, Wood BJ, Pinto PA; Trio Study Group. Using Prostate Imaging-Reporting and Data System (PI-RADS) Scores to Select an Optimal Prostate Biopsy Method: A Secondary Analysis of the Trio Study. Eur Urol Oncol. 2022 Apr;5(2):176-186. doi: 10.1016/j.euo.2021.03.004. Epub 2021 Apr 10.
Ahdoot M, Wilbur AR, Reese SE, Lebastchi AH, Mehralivand S, Gomella PT, Bloom J, Gurram S, Siddiqui M, Pinsky P, Parnes H, Linehan WM, Merino M, Choyke PL, Shih JH, Turkbey B, Wood BJ, Pinto PA. MRI-Targeted, Systematic, and Combined Biopsy for Prostate Cancer Diagnosis. N Engl J Med. 2020 Mar 5;382(10):917-928. doi: 10.1056/NEJMoa1910038.
Siddiqui MM, Rais-Bahrami S, Turkbey B, George AK, Rothwax J, Shakir N, Okoro C, Raskolnikov D, Parnes HL, Linehan WM, Merino MJ, Simon RM, Choyke PL, Wood BJ, Pinto PA. Comparison of MR/ultrasound fusion-guided biopsy with ultrasound-guided biopsy for the diagnosis of prostate cancer. JAMA. 2015 Jan 27;313(4):390-7. doi: 10.1001/jama.2014.17942.
Siddiqui MM, Rais-Bahrami S, Truong H, Stamatakis L, Vourganti S, Nix J, Hoang AN, Walton-Diaz A, Shuch B, Weintraub M, Kruecker J, Amalou H, Turkbey B, Merino MJ, Choyke PL, Wood BJ, Pinto PA. Magnetic resonance imaging/ultrasound-fusion biopsy significantly upgrades prostate cancer versus systematic 12-core transrectal ultrasound biopsy. Eur Urol. 2013 Nov;64(5):713-719. doi: 10.1016/j.eururo.2013.05.059. Epub 2013 Jun 12.
Krucker J, Xu S, Venkatesan A, Locklin JK, Amalou H, Glossop N, Wood BJ. Clinical utility of real-time fusion guidance for biopsy and ablation. J Vasc Interv Radiol. 2011 Apr;22(4):515-24. doi: 10.1016/j.jvir.2010.10.033. Epub 2011 Feb 26.
Krucker J, Xu S, Glossop N, Viswanathan A, Borgert J, Schulz H, Wood BJ. Electromagnetic tracking for thermal ablation and biopsy guidance: clinical evaluation of spatial accuracy. J Vasc Interv Radiol. 2007 Sep;18(9):1141-50. doi: 10.1016/j.jvir.2007.06.014.

المؤلفون: Alhawari, Hussein¹ (AUTHOR) h.alhawari@ju.edu.jo, Obeidat, Zaina¹ (AUTHOR), Wahbeh, Lina¹ (AUTHOR), Mismar, Ayman² (AUTHOR), Younis, Nedal² (AUTHOR), Jafar, Hanan¹ (AUTHOR), Momani, Munther¹ (AUTHOR), Alsabatin, Nedal² (AUTHOR), Awidi, Abdalla¹ (AUTHOR), Alhawari, Hussam¹ (AUTHOR)

المصدر: Blood Pressure. Aug2024, Vol. 33 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *TUMOR suppressor genes, *VON Hippel-Lindau disease, *GENETIC testing, *GENETIC variation, *GENE families

المؤلفون: Tang, Michael¹ (AUTHOR), Meng, Shumei^1,2 (AUTHOR) shumei.meng@bswhealth.org

المصدر: JCEM Case Reports. Jun2024, Vol. 2 Issue 6, p1-5. 5p.

مصطلحات موضوعية: *VON Hippel-Lindau disease, *HEREDITARY nonpolyposis colorectal cancer, *PARAGANGLIOMA, *MAGNETIC resonance angiography, *PANCREATIC cysts, *MAGNETIC resonance imaging, *POSITRON emission tomography

المصدر: An Open-Label Phase 2 Study to Evaluate PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma
Iliopoulos O, Iversen AB, Narayan V, Maughan BL, Beckermann KE, Oudard S, Else T, Maranchie JK, Goldberg CM, Fu W, Perini RF, Liu Y, Linehan WM, Srinivasan R, Jonasch E. Belzutifan for patients with von Hippel-Lindau disease-associated CNS haemangioblastomas (LITESPARK-004): a multicentre, single-arm, phase 2 study. Lancet Oncol. 2024 Oct;25(10):1325-1336. doi: 10.1016/S1470-2045(24)00389-9. Epub 2024 Sep 13. Erratum In: Lancet Oncol. 2024 Nov;25(11):e542. doi: 10.1016/S1470-2045(24)00587-4.
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators. Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease. N Engl J Med. 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425.

Other URLs: http://engagezone.msd.com/ds_documentation.php

المصدر: Non-interventional Post-authorization Study of Belzutifan in Adult Patients With Von Hippel-Lindau Disease-associated Renal Cell Carcinoma, Pancreatic Neuroendocrine Tumor and/or Central Nervous System Hemangioblastoma (MK-6482-026)

المصدر: Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders

المؤلفون: The Rappaport Foundation, The Claflin Distinguished Scholar Awards

المساهمون: Giselle K. Perez Lougee, Principal Investigator

المصدر: Promoting Stress Management and Resilience Among Individuals with Von Hippel- Lindau Disease

المصدر: Retrospective Case Series of Trans-scleral Cryotherapy for Retinal Hemangioblastoma

المصدر: Data Collection Protocol for Patients With Von Hippel Lindau Disease

المساهمون: MARIA LOURDES POSADAS MARTINEZ, Principal Investigator

المصدر: Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
Stoller JK. The Challenge of Rare Diseases. Chest. 2018 Jun;153(6):1309-1314. doi: 10.1016/j.chest.2017.12.018. Epub 2018 Jan 8.
Gliklich RE, Dreyer NA, Leavy MB, editors. Registries for Evaluating Patient Outcomes: A User's Guide [Internet]. 3rd edition. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014 Apr. Report No.: 13(14)-EHC111. Available from http://www.ncbi.nlm.nih.gov/books/NBK208616/

المؤلفون: Rotsos, Tryfon¹ chrys2209@gmail.com, Bouzika, Peggy¹, Sotirianakou, Maria-Evanthia¹, Symeonidis, Chrysanthos¹, Giachos, Ioannis¹, Papakonstantinou, Evangelia¹, Paraskevopoulos, Theodoros¹, Georgalas, Ilias¹

المصدر: Oman Journal of Ophthalmology. May-Aug2024, Vol. 17 Issue 2, p287-290. 4p.

مصطلحات موضوعية: *VON Hippel-Lindau disease, *DIAGNOSIS, *PLATELET-derived growth factor, *ENDOTHELIAL growth factors, *TUMOR suppressor genes, *OPTICAL coherence tomography