Article
Oncology
Satish Maharaj, Karan Seegobin, Kristina Wakeman, Simone Chang, Kevin Potts, Brian Williams, Rebecca Redman
Summary: Sinonasal renal cell-like adenocarcinoma (SNRCLA) is a rare and relatively novel diagnosis. This study reports a case of SNRCLA in a 35-year-old African-American male with von Hippel Lindau (VHL) syndrome. Next generation sequencing detected a possible driver mutation, MST1R, in this case associated with VHL syndrome. Further research is needed to understand the underlying biology of this unique tumor.
Article
Oncology
Simon Kirste, Alexander Ruehle, Stefan Zschiedrich, Wolfgang Schultze-Seemann, Cordula A. Jilg, Elke Neumann-Haefelin, Simon S. Lo, Anca-Ligia Grosu, Emily Kim
Summary: This study explored the outcomes and toxicities of stereotactic body radiotherapy (SBRT) in patients with clear cell renal cell carcinoma (ccRCC). The results showed that SBRT was a feasible treatment option for these vulnerable patients, with excellent local control and minimal adverse events. SBRT may be a valuable non-invasive alternative to surgery for ccRCC patients who are at high risk of kidney injury.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Suzune Tsukamoto, Sho Koyasu, Akihiko Sugimoto, Mami Matsunaga, Yuji Nakamoto
Summary: A 38-year-old man with VHL disease and history of renal cell carcinoma presented with recurrent epistaxis for 2 months. MRI revealed a microcystic tumor in the left ethmoid sinus with strong contrast enhancement. F-18-FDG PET/CT showed FDG uptake (SUVmax, 4.2) in the lesion. Despite two surgical resections performed under the suspicion of renal cell carcinoma metastasis, the patient was finally diagnosed with a VHL-associated microcystic adenoma of the ethmoid sinus based on morphological and immunohistochemical findings, which is an extremely rare tumor in VHL disease.
CLINICAL NUCLEAR MEDICINE
(2023)
Article
Pharmacology & Pharmacy
Elshad Hasanov, Eric Jonasch
Summary: Von Hippel-Lindau (VHL) disease is a genetic syndrome caused by mutations in the VHL gene, resulting in tumors and cysts in multiple organs. Surgery is the standard treatment for localized tumors, but repeated surgeries lead to significant morbidity. MK-6482, a small-molecule HIF 2 alpha inhibitor, has shown promising efficacy and safety in VHL disease-related tumors.
EXPERT OPINION ON INVESTIGATIONAL DRUGS
(2021)
Article
Andrology
Ziao Li, Jin Zhang, Lei Zhang, Lin Yao, Cuijian Zhang, Zhisong He, Xuesong Li, Liqun Zhou
Summary: The growth rate of sporadic ccRCC appears to be slightly faster than that of VHL-associated ccRCC, although this difference is not statistically significant. There are also differences in the factors affecting the growth rate between the two groups, indicating disparities in growth kinetics between sporadic and VHL-associated ccRCC.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Agata Swiatkowska
Summary: p53 is a crucial transcription factor for maintaining cellular homeostasis, and its mutations are strongly linked to tumor development. Different isoforms of p53 have been identified, which can modulate its activity under stress conditions. In renal cancer, mutations in the VHL gene are associated with the most common subtype, renal cell carcinoma (RCC), and the VHL protein is essential for full activation of p53. Changes in the expression of p53 isoforms are associated with different stages of RCC and overall survival.
Article
Biochemistry & Molecular Biology
Jing-Quan Zheng, Che-Hsuan Lin, Hsun-Hua Lee, Wen-Ke Wang, Yiu-Shun Tong, Kang-Yun Lee, Hui-Wen Chiu, Yuan-Feng Lin
Summary: The study demonstrates the inverse association between LTF and mTORC1 activity in ccRCC patients, with implications for patient survival and cancer progression. LTF downregulation may serve as a useful biomarker for guiding the use of mTOR inhibitors in combating metastatic ccRCC in clinical settings.
Article
Radiology, Nuclear Medicine & Medical Imaging
Pouria Yazdian Anari, Nathan Lay, Nikhil Gopal, Aditi Chaurasia, Safa Samimi, Stephanie Harmon, Fatemeh Dehghani Firouzabadi, Maria J. Merino, Paul Wakim, Evrim Turkbey, Elizabeth C. Jones, Mark W. Ball, Baris Turkbey, W. Marston Linehan, Ashkan A. Malayeri
Summary: In this study, a machine learning algorithm was used to predict the growth rate category of renal tumors in VHL patients based on radiomic features. The results provide a personalized approach for surveillance and surgical planning.
ABDOMINAL RADIOLOGY
(2022)
Review
Oncology
Alessandra Cinque, Roberto Minnei, Matteo Floris, Francesco Trevisani
Summary: This review summarizes the new molecular perspectives and biomarkers of VHL-associated hereditary ccRCC, as well as the overlap with sporadic ccRCC.
Article
Cardiac & Cardiovascular Systems
Joel Wessendorf, Alexander Konig, Hendrik Heers, Andreas H. Mahnken
Summary: The study found that radiofrequency ablation (RFA) is safe and effective for treating renal cell carcinomas in patients with Von Hippel-Lindau disease, and can preserve sufficient renal function even after renal surgery, with low risk of recurrence.
CARDIOVASCULAR AND INTERVENTIONAL RADIOLOGY
(2021)
Article
Oncology
Shachar Laks, Rachel van Leeuwaarde, Dhaval Patel, Xavier M. Keutgen, Pascal Hammel, Naris Nilubol, Thera P. Links, Thorvardur R. Halfdanarson, Anthony B. Daniels, Amit Tirosh
Summary: This report summarizes the discussion and recommendations by a group of experts on the pancreatic manifestations of Von Hippel-Lindau disease (VHL). The recommendations were based on a comprehensive systematic review of the literature and panel discussions, providing guidance on clinical surveillance and management of VHL-related pancreatic manifestations.
Review
Oncology
Vivek Narayan, Eric Jonasch
Summary: This review discusses the development of systemic anti-neoplastic therapies for von Hippel-Lindau disease patients and the recent approval of the first systemic agent for this disease. Improved understanding of the disease and its biology has led to the successful development of anti-cancer agents, particularly for advanced renal cell carcinoma treatment. Challenges and opportunities for future VHL systemic therapy are highlighted.
Article
Cell Biology
Luke J. Nelson, Kyleen E. Castro, Binzhi Xu, Junyi Li, Nguyen B. Dinh, Jordan M. Thompson, Jordan Woytash, Kevin R. Kipp, Olga Razorenova
Summary: The cyclin-dependent kinase inhibitor, Dinaciclib, shows potential as a new targeted therapeutic for clear cell renal cell carcinoma (CC-RCC). In vitro and in vivo experiments demonstrate that Dinaciclib inhibits cell proliferation, induces apoptosis, and suppresses tumor growth in a mouse model. It can target both cancer stem cells and non-cancer stem cells. The therapeutic effect of Dinaciclib is enhanced by the loss of the VHL tumor suppressor gene.
Article
Radiology, Nuclear Medicine & Medical Imaging
Nathan Lay, Pouria Yazdian Anari, Aditi Chaurasia, Fatemeh Dehghani Firouzabadi, Stephanie Harmon, Evrim Turkbey, Rabindra Gautam, Safa Samimi, Maria J. J. Merino, Mark W. W. Ball, William Marston Linehan, Baris Turkbey, Ashkan A. A. Malayeri
Summary: In this study, a new neural network approach called Hinge Forest (HF) was developed to segment kidney and tumor structures on MRI in VHL patients. The results showed that HF outperformed traditional U-Net architecture in ccRCC tumor segmentation. The leaf maps generated by HF provided hints about deep learning features that could be useful in other automated tasks.
Article
Oncology
Wendy P. G. Wolters, Koen M. A. Dreijerink, Rachel H. Giles, Anouk N. A. van der Horst-Schrivers, Bernadette van Nesselrooij, Wouter T. Zandee, Henri J. L. M. Timmers, Tatjana Seute, Wouter W. de Herder, Annemarie A. Verrijn Stuart, Emine Kilic, Willem M. Brinkman, Patricia J. Zondervan, W. Peter Vandertop, Anthony B. Daniels, Tijmen Wolbers, Thera P. Links, Rachel S. van Leeuwaarde
Summary: This article aims to establish a multidisciplinary integrated care pathway for individuals with von Hippel-Lindau (VHL) disease. Through a modified Delphi consensus-making process, a panel of experts developed a comprehensive care pathway for VHL patients, which can be implemented in specialized clinics or nonacademic treatment clinics.
Article
Multidisciplinary Sciences
Charles E. Bullerwell, Philippe Pierre Robichaud, Pierre M. L. Deprez, Andrew P. Joy, Gabriel Wajnberg, Darwin D'Souza, Simi Chacko, Sebastien Fournier, Nicolas Crapoulet, David A. Barnett, Stephen M. Lewis, Rodney J. Ouellette
Summary: PAX5 and EBF1 cooperate to regulate genes involved in B lymphocyte differentiation, with the MLL complex playing a critical role in PAX5-mediated transcription regulation.
SCIENTIFIC REPORTS
(2021)
Article
Physiology
Roxanne J. Saulnier, Carol Best, Daniel J. Kostyniuk, Kathleen M. Gilmour, Simon G. Lamarre
Summary: Research suggests that subordinate juvenile rainbow trout exhibit inhibited protein synthesis and increased protein breakdown in muscle when under social stress, leading to reduced growth rates. However, these metabolic changes in muscle disappeared when subordinate fish were relieved of stress, while liver metabolism partially returned to baseline levels.
JOURNAL OF COMPARATIVE PHYSIOLOGY B-BIOCHEMICAL SYSTEMS AND ENVIRONMENTAL PHYSIOLOGY
(2021)
Article
Biochemical Research Methods
EmmaRae L. Murphy, Andrew P. Joy, Rodney J. Ouellette, David A. Barnett
Summary: Several common reagents for alkylation of cysteine residues in intact proteins were evaluated for reaction speed, yield, and over-alkylation using LC-MS. The use of a cocktail of chloroacetamide, bmmoacetamide, and iodoacetamide was found to be optimal for minimizing over-alkylation effects. Alkylating efficiency can be influenced by the halogen leaving group and steric hindrance of the alkylation site on the peptide or protein.
ANALYTICAL BIOCHEMISTRY
(2021)
Article
Multidisciplinary Sciences
Jeremy W. Roy, Catherine A. Taylor, Annie P. Beauregard, Surendar R. Dhadi, D. Craig Ayre, Sheena Fry, Simi Chacko, Gabriel Wajnberg, Andrew P. Joy, Ngoc-Nu Mai-Thi, Nicolas Crapoulet, David A. Barnett, Anirban Ghosh, Stephen M. Lewis, Rodney J. Ouellette
Summary: Extracellular vesicles (EVs) are rich material for biomarker analysis, and an optimized method using Vn96 peptide has been developed for efficient isolation of EVs and cfDNA from plasma samples, allowing for downstream analysis of DNA, RNA, and protein. This multiparametric extraction protocol enhances the sensitivity and specificity of liquid biopsy tests utilizing EVs and cfDNA biomarkers for disease detection and monitoring.
SCIENTIFIC REPORTS
(2021)
Article
Nutrition & Dietetics
Joanna L. Fiddler, Yuwen Xiu, Jamie E. Blum, Simon G. Lamarre, Whitney N. Phinney, Sally P. Stabler, Margaret E. Brosnan, John T. Brosnan, Anna E. Thalacker-Mercer, Martha S. Field
Summary: This study revealed that Shmt2 heterozygosity and dietary folate deficiency impair mitochondrial dTMP synthesis in mice, leading to increased uracil content in mtDNA which may impair mitochondrial function. Additionally, decreased Shmt2 expression impairs mitochondrial function in MEF cells.
JOURNAL OF NUTRITION
(2021)
Article
Microbiology
Cindy Hudec, Adrien Biessy, Amy Novinscak, Renee St-Onge, Simon Lamarre, Jochen Blom, Martin Filion
Summary: In this study, the genomes of 14 prevalent scab-causing Streptomyces spp. from Prince Edward Island, a significant Canadian potato production area, were analyzed. The virulence factors of these strains were compared, revealing novel findings challenging previous assumptions on Streptomyces' virulence. The study suggests that other factors, yet to be characterized, may play a key role in the pathogenicity of these scab-causing Streptomyces strains.
FRONTIERS IN MICROBIOLOGY
(2021)
Article
Microbiology
Dominique Comeau, Carole Balthazar, Amy Novinscak, Nadia Bouhamdani, David L. Joly, Martin Filion
Summary: This study demonstrates a significant increase in Cannabis sativa yield by inoculation with three different Pseudomonas spp./Bacillus spp. consortia, as compared to single inoculation treatments. Genomic analysis indicates Bacillus spp. as the main modulator of rhizosphere microbiome diversity, while Pseudomonas spp. are strongly associated with plant growth promotion.
FRONTIERS IN MICROBIOLOGY
(2021)
Article
Physiology
M. A. Gates, A. J. Morash, S. G. Lamarre, T. J. MacCormack
Summary: Taurine is essential for regulating cardiac contractility, and its deficiency can impair heart function in mammals. In rainbow trout, cardiac taurine levels vary between species and environmental changes can lead to reduced levels, impacting cardiac function. While taurine deficiency did not affect overall aerobic performance, it significantly impaired cardiac contractility in beta-alanine-fed trout.
JOURNAL OF COMPARATIVE PHYSIOLOGY B-BIOCHEMICAL SYSTEMS AND ENVIRONMENTAL PHYSIOLOGY
(2022)
Article
Oncology
Mathieu Johnson, Sarah Nowlan, Guelsuem Sahin, David A. Barnett, Andrew P. Joy, Mohamed Touaibia, Miroslava Cuperlovic-Culf, Daina Zofija Avizonis, Sandra Turcotte
Summary: Kidney cancer is a common type of cancer and its incidence has increased in the past two decades. A new study has identified a small molecule called STF-62247 that specifically targets renal tumors lacking the VHL gene. The study also found that STF-62247 affects glucose, pyruvate, glycerol 3-phosphate, glutamate, asparagine, and glutathione levels in cancer cells.
FRONTIERS IN ONCOLOGY
(2022)
Review
Cell Biology
Nadia Bouhamdani, Dominique Comeau, Sandra Turcotte
Summary: Lysosomes have been revealed as crucial multifaceted signaling organelles rather than mere waste bags through research in the past 15 years. They play roles in anti-cancer drug resistance and are involved in a series of molecular and functional changes during malignant transformation leading to tumor aggression, angiogenesis, and metastases. Targeting lysosomes in cancer may lead to the development of new and effective targeted therapies.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Microbiology
Genevieve Leger, Amy Novinscak, Adrien Biessy, Simon Lamarre, Martin Filion
Summary: Different PCA-producing Pseudomonas spp. strains exhibited varying levels of biocontrol activity against Phytophthora infestans in potato tuber bioassays. The quantities of PCA produced did not correlate with biocontrol activity, suggesting the presence of other genetic determinants potentially involved in controlling the pathogen. Genome mining identified siderophores, cyclic lipopeptides, and non-ribosomal peptide synthase and polyketide synthase hybrid clusters as potential factors in the biocontrol of Phytophthora infestans by phenazine-producing pseudomonads.
Article
Medicine, General & Internal
Erika N. Dugas, Martine Poirier, Dominique Basque, Nadia Bouhamdani, Laure LeBreton, Nicole Leblanc
Summary: Limited clinical capacity and resources for FASD in Canada highlight the need for continued support. This study identifies gaps in assessment, diagnosis, and reporting practices for FASD in children/adolescents across Canada.
Article
Biochemistry & Molecular Biology
Katherine M. Halloran, Claire Stenhouse, Robyn M. Moses, Avery C. Kramer, Nirvay Sah, Heewon Seo, Simon G. Lamarre, Gregory A. Johnson, Guoyao Wu, Fuller W. Bazer
Summary: This study demonstrates the importance of one carbon metabolism and serinogenesis in ovine conceptuses during the peri-implantation period of pregnancy. It also reveals that glucose and fructose are the preferred substrates for generating formate required for nucleotide synthesis.
Article
Environmental Sciences
Tamara Ledoux, Jeff C. Clements, Luc A. Comeau, Gauthier Cervello, Rejean Tremblay, Frederic Olivier, Laurent Chauvaud, Renee Y. Bernier, Simon G. Lamarre
Summary: This study found that the sound produced by human activities has an impact on the behavior and physiology of Eastern oysters. The oysters immediately reduced their valve gape in response to simulated pile driving sound, but not drilling or boating sound. The pile-driving sound also resulted in a reduction of glycogen in the adductor muscle, but not triglyceride.
FRONTIERS IN MARINE SCIENCE
(2023)
Article
Immunology
Mathieu P. A. Hebert, Ayyoub Selka, Andrea A. Lebel, Jeremie A. Doiron, Audrey Isabel Chiasson, Vanessa L. Gauvin, Alexis J. Matthew, Martin J. G. Hebert, Marco S. Doucet, Andrew P. Joy, David A. Barnett, Mohamed Touaibia, Marc E. Surette, Luc H. Boudreau
Summary: The inflammatory response is crucial for host defence, but unregulated production of lipid mediators is associated with chronic inflammatory diseases. This study identified a compound that selectively inhibits the 12-LO pathway without affecting normal cell functions, showing promise for potential therapeutic approaches.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)