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https://www.readbyqxmd.com/read/29770250/the-usefulness-of-indocyanine-green-during-surgery-for-hypervascular-posterior-fossa-tumors
#1
Takahiro Shinya, Hideki Nagamine, Ken-Ichi Sugawara, Shogo Ishiuchi
Background: Cerebral hemangioblastomas are benign tumors with abundant blood flow that occur mainly in the posterior fossa. Tumor removal en bloc is important in surgical treatment because of the risk of bleeding; however, it is actually rather difficult in practice. Therefore, we propose a surgical strategy for visualizing hypervascular tumors of the posterior fossa utilizing indocyanine green (ICG). Case Description: Case 1 involved a 48-year-old male with a history of von Hippel-Lindau (VHL) disease...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29766943/brain-stem-hemangioblastomas-the-seemingly-innocuous-lesion-in-a-perilous-location
#2
Jeena Joseph, Sanjay Behari, Shruti Gupta, Kamlesh Singh Bhaisora, Anish Gandhi, Arun Srivastava, Awadhesh K Jaiswal
Introduction: Hemangioblastomas [75% sporadic, 25% with Von Hippel Lindau (VHL) disease] are highly vascular, benign lesions. The surgical nuances, management, and complication avoidance in brain-stem hemangioblastomas (BHs) have been studied. Material and Methods: Over 18 years, 27(mean age: 29 years; range 15-60 years) consecutive cases of BH underwent microsurgical excision. All patients were assessed clinico-radiologically for neurological deficits and screened for VHL disease...
May 2018: Neurology India
https://www.readbyqxmd.com/read/29766028/a-non-integrating-lentiviral-approach-overcomes-cas9-induced-immune-rejection-to-establish-an-immunocompetent-metastatic-renal-cancer-model
#3
Junhui Hu, Shiruyeh Schokrpur, Maani Archang, Kip Hermann, Allison C Sharrow, Prateek Khanna, Jesse Novak, Sabina Signoretti, Rupal S Bhatt, Beatrice S Knudsen, Hua Xu, Lily Wu
The CRISPR-based technology has revolutionized genome editing in recent years. This technique allows for gene knockout and evaluation of function in cell lines in a manner that is far easier and more accessible than anything previously available. Unfortunately, the ability to extend these studies to in vivo syngeneic murine cell line implantation is limited by an immune response against cells transduced to stably express Cas9. In this study, we demonstrate that a non-integrating lentiviral vector approach can overcome this immune rejection and allow for the growth of transduced cells in an immunocompetent host...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29764331/psychological-impact-of-von-hippel-lindau-genetic-screening-in-patients-with-a-previous-history-of-hemangioblastoma-of-the-central-nervous-system
#4
Claire Rochette, Karine Baumstarck, Hélène Canoni-Zattara, Ahmad Esmaeel Abdullah, Dominique Figarella-Branger, Morgane Pertuit, Anne Barlier, Frédéric Castinetti, Karel Pacak, Philippe Metellus, David Taïeb
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB. From 1999 until 2015, 55 patients underwent surgery for CNS HBs...
May 15, 2018: Journal of Psychosocial Oncology
https://www.readbyqxmd.com/read/29757728/tumors-in-von-hippel-lindau-syndrome-from-head-to-toe-comprehensive-state-of-the-art-review
#5
Dhakshinamoorthy Ganeshan, Christine O Menias, Perry J Pickhardt, Kumaresan Sandrasegaran, Meghan G Lubner, Preetha Ramalingam, Sanjeev Bhalla
No abstract text is available yet for this article.
May 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29753689/molecular-characterization-and-gene-expression-analysis-of-hypoxia-inducible-factor-and-its-inhibitory-factors-in-kuruma-shrimp-marsupenaeus-japonicus
#6
Yo Okamura, Tohru Mekata, Gehad Elsaid Elshopakey, Toshiaki Itami
In shrimp aquaculture, overcrowded farming causes fluctuations in dissolved oxygen concentrations. Low-oxygen conditions (hypoxia) affect shrimp growth. Hypoxia-inducible factor (HIF) is a transcriptional factor in the basic helix-loop-helix/PAS family and is activated in response to hypoxic stress. However, little is known about HIF and other inhibitors of the HIF pathway in crustaceans. In this study, we cloned MjHIF-1α, an inhibitory factor, MjFIH-1 (factor inhibiting HIF-1α), and MjVHL (Von Hippel-Lindau tumor suppressor) from kuruma shrimp (Marsupenaeus japonicus)...
May 10, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29752349/paediatric-pancreatic-neuroendocrine-tumours-in-von-hippel-lindau-disease
#7
Samuel Matthew O'Toole, Anju Sahdev, Satya Bhattacharya, Roger Feakins, Evelien F Gevers, William Drake
Extract: Pancreatic neuroendocrine tumours (pNETs) are an established feature of von Hippel-Lindau disease (VHL), occurring in up to 17% of mutation carriers (Libutti et al. 2000; Blansfield et al. 2007; Erlic et al. 2010; Igarashi et al. 2014). The natural history of VHL-pNETs is poorly characterised with metastatic disease occurring in up to 25% of affected individuals (Erlic et al. 2010). Management of this unique pNET subgroup is complicated by the potential for multifocal and metachronous disease as well as extra-pancreatic VHL-related neoplasms (e...
May 11, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29749453/identification-of-a-vhl-gene-mutation-in-a-chinese-family-with-von-hippel%C3%A2-lindau-syndrome
#8
Zhengwen He, Lu Xia, Zhiyong Deng, Aojie Lian, Zhengmao Hu, Bin Li
Von Hippel‑Lindau (VHL) syndrome is an autosomal dominant neoplastic disorder. The VHL tumor suppressor (VHL) gene has previously been identified to represent the causative gene of VHL. Previous studies have demonstrated that >506 different mutations in VHL are associated with VHL syndrome. The aim of the present study was to determine the VHL gene mutation present in a VHL syndrome pedigree and to investigate the pathogenesis of the mutant protein. Briefly, a family suffering from VHL syndrome in a Chinese Han population was recruited, and a missense mutation (c...
May 4, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29748190/preventive-medicine-for-von-hippel-lindau-disease-associated-pancreatic-neuroendocrine-tumors
#9
Tobias Krauss, Alfonso Massimiliano Ferrara, Thera P Links, Ulrich Wellner, Irina Bancos, Andrey Kvachenyuk, Karina Villar Gómez de Las Heras, Marina Yukina, Roman Petrov, Garrett Bullivant, Laura von Duecker, Swati S Jadhav, Ursula Ploeckinger, Staffan Welin, Camilla Schalin-Jantti, Oliver Gimm, Marija Pfeifer, Joanne Ngeow, Kornelia Hasse-Lazar, Gabriela Sanso, Xiao-Ping Qi, Umit Ugurlu, Rene Eduardo Diaz, Nelson Wohllk, Mariola Peczkowska, Jens Aberle, Delmar Munir Lourenço, Maria Adelaide Pereira, Maria Candida Barisson Villares Fragoso, Ana O Hoff, Madson Queiroz Almeida, Alice H D Violante, Ana R P Quidute, Zheiwei Zhang, Monica Recasens, Luis Robles Diaz, Tada Kunavisarut, Taweesak Wannachalee, Sirinart Sirinvaravong, Eric Jonasch, Simona Grozinsky-Glasberg, Merav Fraenkel, Dmitry Beltsevich, Viacheslav I Egorov, Dirk Bausch, Matthias Schott, Nikolaus Tiling, Gianmaria Pennelli, Stefan Zschiedrich, Roland Därr, Juri Ruf, Timm Denecke, Karl-Heinrich Link, Stefania Zovato, Ernst von Dobschuetz, Svetlana Yaremchuk, Holger Amthauer, Ozer Makay, Attila Patocs, Martin K Walz, Tobias B Huber, Jochen Seufert, Per Hellman, Raymond H Kim, Ekaterina Kuchinskaya, Francesca Schiavi, Angelica Malinoc, Nicole Reisch, Barbara Jarzab, Marta Barontini, Andrzej Januszewicz, Nalini Shah, William Young, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann, Birke Bausch
Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2,330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10-75)...
May 10, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29732003/single-cell-genetic-analysis-validates-cytopathological-identification-of-circulating-cancer-cells-in-patients-with-clear-cell-renal-cell-carcinoma
#10
Lucile Broncy, Basma Ben Njima, Arnaud Méjean, Christophe Béroud, Khaled Ben Romdhane, Marius Ilie, Veronique Hofman, Jane Muret, Paul Hofman, Habiba Chaabouni Bouhamed, And Patrizia Paterlini-Bréchot
Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene. Aim: To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis. Results: 29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29729363/unilateral-papillary-cystadenoma-of-the-epididymis-as-a-first-presentation-of-von-hippel-lindau-disease
#11
Maria Enrica Miscia, Dacia Di Renzo, Antonello Persico, Luciana Tarallo, Pierluigi Lelli Chiesa
Association between papillary cystadenoma of the epididymis (PCE) and Von Hippel-Lindau Disease (VHLD) is well known and stronger for bilateral tumours. Unilateral PCE occurs either as a sporadic tumor without evidence of VHLD or in the context of a known diagnosis of VHLD, indeed it has never been reported as the first manifestation of VHLD. In contrast we report the case of a boy with an apparently isolated, unilateral PCE, that resulted to be the first manifestation of an unknown VHLD. Thus we recommend screening for VHLD in patients with a new diagnosis of unilateral PCE, especially if young...
May 2, 2018: Urology
https://www.readbyqxmd.com/read/29720560/targeting-the-mevalonate-pathway-suppresses-vhl-deficient-cc-rcc-through-a-hif-dependent-mechanism
#12
Jordan M Thompson, Alejandro Alvarez, Monika K Singha, Matthew W Pavesic, Quy H Nguyen, Luke J Nelson, David A Fruman, Olga V Razorenova
Clear Cell Renal Cell Carcinoma (CC-RCC) is a devastating disease with limited therapeutic options available for advance stages. The objective of this study was to investigate HMG-CoA Reductase inhibitors, also known as statins, as potential therapeutics for CC-RCC. Importantly, treatment with statins was found to be synthetically lethal with the loss of the von Hippel-Lindau (VHL) tumor suppressor gene, which occurs in 90% of CC-RCC driving the disease. This effect has been confirmed in three different CC-RCC cell lines with three different lipophilic statins...
May 2, 2018: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29708531/a-comprehensive-procedure-to-evaluate-the-in-vitro-performance-of-the-putative-hemangioblastoma-neovascularization-using-the-spheroid-sprouting-assay
#13
Ying Wang, DanQi Chen, MingYu Chen, KaiYuan Ji, DeXuan Ma, LiangFu Zhou
The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene plays a crucial role in the development of hemangioblastomas (HBs) within the human central nervous system (CNS). However, both the cytological origin and the evolutionary process of HBs (including neovascularization) remain controversial, and anti-angiogenesis for VHL-HBs, based on classic HB angiogenesis, have produced disappointing results in clinical trials. One major obstacle to the successful clinical translation of anti-vascular treatment is the lack of a thorough understanding of neovascularization in this vascular tumor...
April 12, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29693047/pancreatic-hif2%C3%AE-stabilization-leads-to-chronic-pancreatitis-and-predisposes-to-mucinous-cystic-neoplasm
#14
Heather K Schofield, Manuj Tandon, Min-Jung Park, Christopher J Halbrook, Sadeesh K Ramakrishnan, Esther C Kim, Jiaqi Shi, M Bishr Omary, Yatrik M Shah, Farzad Esni, Marina Pasca di Magliano
Background & Aims: Tissue hypoxia controls cell differentiation in the embryonic pancreas, and promotes tumor growth in pancreatic cancer. The cellular response to hypoxia is controlled by the hypoxia-inducible factor (HIF) proteins, including HIF2α. Previous studies of HIF action in the pancreas have relied on loss-of-function mouse models, and the effects of HIF2α expression in the pancreas have remained undefined. Methods: We developed several transgenic mouse models based on the expression of an oxygen-stable form of HIF2α, or indirect stabilization of HIF proteins though deletion of von Hippel-Lindau, thus preventing HIF degradation...
2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29681293/von-hippel-lindau-incidentally-diagnosed-in-evaluation-of-sporadic-aniridia
#15
Ian C Holmen, Zackery Oakey, Michael M Altaweel
No abstract text is available yet for this article.
May 2018: Ophthalmology
https://www.readbyqxmd.com/read/29680948/hereditary-renal-cell-carcinoma-syndromes-diagnosis-surveillance-and-management
#16
REVIEW
Eamonn R Maher
PURPOSE: Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic targets for sporadic RCC. METHODS: A literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management. RESULTS: Familial RCC is usually inherited in an autosomal dominant manner, although inherited RCC may present without a relevant family history...
April 21, 2018: World Journal of Urology
https://www.readbyqxmd.com/read/29666476/hif1a-inactivation-rescues-photoreceptor-degeneration-induced-by-a-chronic-hypoxia-like-stress
#17
Maya Barben, Divya Ail, Federica Storti, Katrin Klee, Christian Schori, Marijana Samardzija, Stylianos Michalakis, Martin Biel, Isabelle Meneau, Frank Blaser, Daniel Barthelmes, Christian Grimm
Reduced choroidal blood flow and tissue changes in the ageing human eye impair oxygen delivery to photoreceptors and the retinal pigment epithelium. As a consequence, mild but chronic hypoxia may develop and disturb cell metabolism, function and ultimately survival, potentially contributing to retinal pathologies such as age-related macular degeneration (AMD). Here, we show that several hypoxia-inducible genes were expressed at higher levels in the aged human retina suggesting increased activity of hypoxia-inducible transcription factors (HIFs) during the physiological ageing process...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29662268/a-pediatric-case-of-pheochromocytoma-without-apparent-hypertension-associated-with-von-hippel-lindau-disease
#18
Junko Igaki, Akira Nishi, Takeshi Sato, Tomonobu Hasegawa
Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29660844/moray-micro-forceps-biopsy-improves-the-diagnosis-of-specific-pancreatic-cysts
#19
M Lisa Zhang, Ronald N Arpin, William R Brugge, David G Forcione, Omer Basar, Martha B Pitman
BACKGROUND: Making a specific diagnosis of pancreatic cysts preoperatively is difficult. The new disposable Moray micro forceps biopsy (MFB) device allows tissue sampling from the pancreatic cyst wall/septum and aims to improve diagnosis. This study compares the diagnostic performance of the MFB with the current conventional analysis of pancreatic cyst fluid (PCF). METHODS: A total of 48 patients sampled with MFB were identified. Cysts were classified as mucinous on PCF based on extracellular mucin/mucinous epithelium, carcinoembryonic antigen (CEA) levels ≥192 ng/mL, or KRAS/GNAS mutation...
April 16, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29650462/thioamide-substitution-to-probe-the-hydroxyproline-recognition-of-vhl-ligands
#20
Pedro Soares, Xavier Lucas, Alessio Ciulli
Thioamide substitution influences hydrogen bond and n → π∗ interactions involved in the conformational stability of protein secondary structures and oligopeptides. Hydroxyproline is the key recognition element of small molecules targeting the von Hippel-Lindau (VHL) E3 ligase, which are of interest as probes of hypoxia signaling and ligands for PROTAC conjugation. We hypothesized that VHL ligands could be a privileged model system to evaluate the contribution of these interactions to protein:ligand complex formation...
March 23, 2018: Bioorganic & Medicinal Chemistry
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