Article
Oncology
Francesca Branzoli, Betty Salgues, Malgorzata Marjanska, Marie Laloi-Michelin, Philippe Herman, Lauriane Le Collen, Brigitte Delemer, Julien Riancho, Emmanuelle Kuhn, Christel Jublanc, Nelly Burnichon, Laurence Amar, Judith Favier, Anne-Paule Gimenez-Roqueplo, Alexandre Buffet, Charlotte Lussey-Lepoutre
Summary: The study found that using H-1-MRS non-invasive method can detect succinate in pituitary adenomas, demonstrating the link between succinate deficiency and the development of these tumors.
ENDOCRINE-RELATED CANCER
(2023)
Article
Endocrinology & Metabolism
Clotilde Saie, Alexandre Buffet, Juliette Abeillon, Delphine Drui, Sophie Leboulleux, Jerome Bertherat, Delphine Zenaty, Caroline Storey, Francoise Borson-Chazot, Nelly Burnichon, Marie Vincent, Judith Favier, Eric Baudin, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Laurence Amar, Charlotte Lussey-Lepoutre
Summary: The study demonstrated that imaging screening could detect tumors in a significant proportion of asymptomatic SDHX mutation carriers, with a higher detection rate observed in SDHD mutation carriers compared to SDHB and SDHC.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Oncology
Krisztina Takacs-Vellai, Zsolt Farkas, Fanni Osz, Gordon W. Stewart
Summary: This article reviews the pathophysiological studies on pheochromocytoma (PHEO) and paraganglioma (PGL) caused by mutations in succinate dehydrogenase (SDH) subunit B (SDHB) gene, and the contributions of different model organisms to our understanding of SDH dysfunction.
CANCER AND METASTASIS REVIEWS
(2021)
Article
Oncology
Katerina Hadrava Vanova, Chunzhang Yang, Leah Meuter, Jiri Neuzil, Karel Pacak
Summary: Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare neuroendocrine tumors derived from neural crest cells, with a subset of patients at risk for metastatic disease, especially those with succinate dehydrogenase subunit B mutations. These tumors exhibit redox imbalance, suggesting therapeutic strategies targeting reactive oxygen species production may be promising.
Article
Biochemistry & Molecular Biology
James Whitworth, Ruth T. Casey, Philip S. Smith, Olivier Giger, Jose Ezequiel Martin, Graeme Clark, Jaqueline Cook, Marlee S. Fernando, Phillipe Taniere, Eamonn R. Maher
Summary: This study reports a rare case of a mother-son diad with wild-type GIST, both found to have germline truncating variants in SDHA and PALB2 through comprehensive genetic testing. The mother also developed breast ductal carcinoma in-situ, with immunohistochemistry and molecular analysis showing loss of SDHB expression in the wtGISTs. The presence of multilocus inherited neoplasia alleles syndrome (MINAS) in this family may have contributed to the highly unusual occurrence of familial wtGIST.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Clinical Neurology
Evan L. Tooker, Richard H. Wiggins, Mana Espahbodi, Anne Naumer, Luke O. Buchmann, Samantha E. Greenberg, Neil S. Patel
Summary: The objective of this study was to characterize the natural history and clinical behavior of head and neck paragangliomas (HNPGLs) in subjects with succinate dehydrogenase (SDHx) pathogenic variants using volumetric tumor measurements. The results showed that over intermediate-term follow-up, observation of treatment-naive SDHx-related HNPGLs did not result in new cranial neuropathy. These findings may help optimize patient tumor control and cranial nerve functional preservation.
OTOLOGY & NEUROTOLOGY
(2023)
Article
Multidisciplinary Sciences
K. S. Cujia, K. Herb, J. Zopes, J. M. Abendroth, C. L. Degen
Summary: The study extends nuclear magnetic resonance imaging to large nuclear spin clusters by combining weak quantum measurements, phase encoding, and simulated annealing. This method allows for the simultaneous detection of three-dimensional positions from multiple nuclei, with spatial selectivity and successful imaging of clusters containing multiple nuclear spins at room temperature.
NATURE COMMUNICATIONS
(2022)
Article
Physics, Multidisciplinary
Ainitze Biteri-Uribarren, Pol Alsina-Bolivar, Carlos Munuera-Javaloy, Ricardo Puebla, Jorge Casanova
Summary: This study tackles the detection of individual molecules by combining a hybrid sensor-a nitrogen vacancy center (NV) and a dangling bond on the diamond surface-with a multi-tone dynamical decoupling sequence. Via numerical simulations, the authors prove that the sequence minimizes the impact of decoherence, which allows using the dangling-bond as a signal amplifier.
COMMUNICATIONS PHYSICS
(2023)
Article
Medicine, Research & Experimental
Christian Prinz, Ludger Starke, Jason M. Millward, Ariane Fillmer, Paula Ramos Delgado, Helmar Waiczies, Andreas Pohlmann, Michael Rothe, Marc Nazare, Friedemann Paul, Thoralf Niendorf, Sonia Waiczies
Summary: This study successfully demonstrated the feasibility of using F-19 MR methods to detect TF in vivo, showing a significant correlation between TF concentrations and F-19 MR signals. The results highlight the potential application of F-19 MR technology in monitoring neuro-inflammation, emphasizing the need for further technological advancements in this field.
Article
Medicine, Research & Experimental
Jing Lu, Ying Li, Yong Ai Li, Li Wang, An Rong Zeng, Xiao Liang Ma, Jin Wei Qiang
Summary: This study investigated the metabolic alterations and dysregulated metabolic pathways in paclitaxel-resistant epithelial ovarian cancer (EOC) using in vivo proton-magnetic resonance spectroscopy (H-1-MRS), metabolomics, and proteomics. The findings suggest that dysregulated choline metabolism is associated with paclitaxel resistance in EOC, and the elevated total choline (tCho) observed on in vivo H-1-MRS may serve as an indicator for paclitaxel resistance in EOC.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Khaoula Bouazizi, Mohamed Zarai, Florian Marquet, Judith Aron-Wisnewsky, Karine Clement, Alban Redheuil, Nadjia Kachenoura
Summary: This study utilized high-field ex vivo MRI to quantify fibrosis percentage in human subcutaneous adipose tissue samples, demonstrating excellent correlations and levels of agreement with histology results.
QUANTITATIVE IMAGING IN MEDICINE AND SURGERY
(2021)
Review
Biochemistry & Molecular Biology
Francesca Bottino, Martina Lucignani, Antonio Napolitano, Francesco Dellepiane, Emiliano Visconti, Maria Camilla Rossi Espagnet, Luca Pasquini
Summary: Changes in brain GSH levels may be associated with inflammatory processes in neurological disorders, and magnetic resonance spectroscopy can provide accurate and reliable measurements of GSH concentrations, aiding in clinical applications.
Article
Multidisciplinary Sciences
Franziska Theiss, Laura Wienands, Jonas Lins, Marcel Alcaraz-Janssen, Christina M. Thiele, Gerd Buntkowsky
Summary: Nuclear magnetic resonance (NMR) experiments using parahydrogen-induced polarization (PHIP) were conducted to investigate the activity of the synthetic biopolymer poly-γ-(4-propargyloxy)-benzyl-L-glutamate) (PPOBLG). The homopolypeptide was successfully hyperpolarized and the enhanced signals were detected in 11.7 T solution NMR as a function of PPOBLG concentration. Hydrogenation with parahydrogen resulted in signal enhancements of over 800 times for the vinyl protons of the side chain at low substrate concentration. Due to the high enhancement factor, even at a concentration of 13 nM PPOBLG, the hyperpolarized protons could be detected with a single scan H-1-NMR, thanks to the combination of hyperpolarization and density of PHIP active sites.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Manabu Natsumeda, Hironaka Igarashi, Ramil Gabdulkhaev, Haruhiko Takahashi, Kunio Motohashi, Ryosuke Ogura, Jun Watanabe, Yoshihiro Tsukamoto, Kouichirou Okamoto, Akiyoshi Kakita, Tsutomu Nakada, Yukihiko Fujii
Summary: The study re-evaluated five glioma cases for IDH2 mutations, identifying rare mutations in two cases. MRS demonstrated higher specificity for detecting IDH1/2 mutations than originally reported.
Article
Radiology, Nuclear Medicine & Medical Imaging
Jameen Arm, Georg Oeltzschner, Oun Al-iedani, Rod Lea, Jeannette Lechner-Scott, Saadallah Ramadan
Summary: This study revealed that fatigue in patients with relapse remitting multiple sclerosis is associated with alterations in GABA and Glx levels in different brain regions, indicating a potential dysregulation of GABAergic and glutamatergic neurotransmission in the pathophysiological mechanism of central fatigue in MS.
EUROPEAN JOURNAL OF RADIOLOGY
(2021)
Article
Genetics & Heredity
Laurene Ben Aim, Eamonn R. Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J. Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A. Toledo, Patricia L. Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon
Summary: The international effort led to the classification of 223 SDHB variants into 23 benign/likely benign, 149 pathogenic/likely pathogenic, and 51 variants of unknown significance. The accurate classification of SDHB genetic variants will assist geneticists in diagnosing hereditary PPGL and improving clinical care for patients and their relatives.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pathology
Aurelien Morini, Tom Drossart, Marc-Olivier Timsit, Mathilde Sibony, Viorel Vasiliu, Anne-Paule Gimenez-Roqueplo, Judith Favier, Cecile Badoual, Arnaud Mejean, Nelly Burnichon, Virginie Verkarre
Summary: The major role of the mTOR pathway in the tumorigenesis of LOT, presence of genetic variations in mTOR pathway related genes, absence of FOXI1 expression as a distinguishing factor, and the potential for targeted therapy in cases of metastasis were highlighted in the study.LOT was considered as a distinct entity with a favorable clinical outcome.
Review
Medicine, General & Internal
Jean-Baptiste de Freminville, Laurence Amar
Summary: Hypertension is the most common modifiable risk factor globally, affecting approximately 30% to 40% of adults. Secondary hypertension, resulting from identified causes, accounts for 10% to 15% of hypertensive patients. Renal arteries abnormalities, kidney disease, and endocrine hypertension, primarily due to adrenal causes, are the most frequent secondary causes. Detecting and exploring endocrine causes of hypertension is particularly important as some causes can be cured or have specific treatments available. Screening and exploration for secondary hypertension should be a serious concern for physicians treating hypertensive patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Antoine Fayol, Maxime Wack, Marine Livrozet, Jean-Baptiste Carves, Orianne Domenge, Eva Vermersch, Mariana Mirabel, Alexandre Karras, Julien Le Guen, Anne Blanchard, Michel Azizi, Laurence Amar, Marie-Cecile Bories, Elie Mousseaux, Claire Carette, Etienne Puymirat, Albert Hagege, Anne-Sophie Jannot, Jean-Sebastien Hulot
Summary: This study classified HFpEF patients into secondary and idiopathic groups based on etiology, revealing differences in prognosis and mortality rates between the two groups. Unsupervised clustering analysis identified three phenogroups, with the one having the highest proportion of idiopathic HFpEF showing a better prognosis and higher prevalence of non-cardiac co-morbidities such as chronic obstructive pulmonary disease and obesity compared to the groups enriched with secondary HFpEF.
Article
Surgery
Elisabeth Hain, Amine Chamakhi, Charlotte Lussey-Lepoutre, Jerome Bertherat, Christophe Baillard, Gilles Manceau, Louis Puybasset, Jacques Blacher, Bernard Cholley, Anne-Paule Gimenez-Roqueplo, Bertrand Dousset, Laurence Amar, Fabrice Menegaux, Sebastien Gaujoux
Summary: According to the study results, patients with pheochromocytomas/paragangliomas who underwent surgery after presenting with Takotsubo-like cardiomyopathy can be safely operated with low risk of perioperative complications and good postoperative outcomes.
Article
Health Care Sciences & Services
Clemence Baudin, Charlotte Lussey-Lepoutre, Alice Bressand, Camille Buffet, Fabrice Menegaux, Marine Soret, David Broggio, Celine Bassinet, Christelle Huet, Gemma Armengol, Laurence Leenhardt, Marie-Odile Bernier
Summary: This study aims to investigate the risk of salivary dysfunctions in patients after radioiodine therapy. It utilizes clinical, biomolecular, and biochemical factors to identify high-risk patients and validate a dosimetric method. The study collects data through questionnaires and biological measurements, and statistical analysis will be performed to evaluate the relationship between salivary dysfunctions and absorbed doses.
JMIR RESEARCH PROTOCOLS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Nicole Hindman, Stella Kang, Laure Fournier, Yulia Lakhman, Stephanie Nougaret, Caroline Reinhold, Elizabeth Sadowski, Jian Qun Huang, Susan Ascher
Summary: Laparoscopic myomectomy, a common gynecologic operation, has been regulated since 2014 due to the discovery of a higher prevalence of uterine leiomyosarcoma (LMS). Gynecologic surgeons are in need of an evidence-based, noninvasive evaluation for LMS to avoid the dissemination of aggressive malignant neoplasms.
Review
Radiology, Nuclear Medicine & Medical Imaging
Maxime Lacroix, Theodore Aouad, Jean Feydy, David Biau, Frederique Larousserieb, Laure Fournier, Antoine Feydy
Summary: Artificial intelligence (AI) has been increasingly studied in musculoskeletal oncology imaging, with applications in primary and secondary bone tumors for tasks such as detection, segmentation, classification, and prognosis. However, further efforts are needed to improve AI reproducibility and achieve an acceptable level of evidence in clinical research. This review provides an overview of common AI techniques, including machine learning, deep learning, and radiomics, as well as recent developments and current results in musculoskeletal oncology. The limitations and future perspectives of AI in this field are also discussed.
DIAGNOSTIC AND INTERVENTIONAL IMAGING
(2023)
Article
Oncology
Francesca Branzoli, Betty Salgues, Malgorzata Marjanska, Marie Laloi-Michelin, Philippe Herman, Lauriane Le Collen, Brigitte Delemer, Julien Riancho, Emmanuelle Kuhn, Christel Jublanc, Nelly Burnichon, Laurence Amar, Judith Favier, Anne-Paule Gimenez-Roqueplo, Alexandre Buffet, Charlotte Lussey-Lepoutre
Summary: The study found that using H-1-MRS non-invasive method can detect succinate in pituitary adenomas, demonstrating the link between succinate deficiency and the development of these tumors.
ENDOCRINE-RELATED CANCER
(2023)
Article
Hematology
Valena Karaghiannis, Darko Maric, Celine Garrec, Nada Maaziz, Alexandre Buffet, Loic Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sebastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Mink Rab, Stephane Bezieau, Bruno Cassinat, Frederic Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, Francois Girodon, David Hoogewijis, Betty Gardie
Summary: Gain-of-function mutations in the EPAS1/HIF2A gene have been found in patients with hereditary erythrocytosis, which can lead to the development of paraganglioma, pheochromocytoma, and somatostatinoma. This study described a European collection of patients and relatives with erythrocytosis associated with a germline genetic variant in EPAS1. Functional assays were conducted to determine the pathogenicity of the genetic variants and to identify potential candidates for HIF-2 alpha inhibitor treatment. The study identified new mutations and highlighted the complexity of genotype/phenotype correlations in erythrocytosis.
Editorial Material
Oncology
Maxime Janin, Manel Esteller
Summary: Mutations in splicing factors are commonly found in CLL, but other mechanisms such as METTL3 overexpression can also lead to abnormal splicing. METTL3 deposits epitranscriptomic marks in spliceosome transcripts, causing aberrant splicing, but also vulnerability to METTL3 inhibitors.
BLOOD CANCER DISCOVERY
(2023)
Review
Computer Science, Interdisciplinary Applications
Sandra Amador, Felix Beuschlein, Vedant Chauhan, Judith Favier, David Gil, Phillip Greenwood, R. R. de Krijger, Matthias Kroiss, Samanta Ortuno-Miquel, Attila Patocs, Anthony Stell, Axel Walch
Summary: This article reviews the application of deep learning techniques in the detection or segmentation of renal tumors. The review provides detailed information on research objectives, data sets used, and the number of patients involved. The importance of open data sharing in this field is emphasized.
ARCHIVES OF COMPUTATIONAL METHODS IN ENGINEERING
(2023)
Article
Multidisciplinary Sciences
Thulaciga Yoganathan, Mailyn Perez-Liva, Daniel Balvay, Morgane Le Gall, Alice Lallemand, Anais Certain, Gwennhael Autret, Yasmine Mokrani, Francois Guillonneau, Johanna Bruce, Vincent Nguyen, Umit Gencer, Alain Schmitt, Franck Lager, Thomas Guilbert, Patrick Bruneval, Jose Vilar, Nawal Maissa, Elie Mousseaux, Thomas Viel, Gilles Renault, Nadjia Kachenoura, Bertrand Tavitian
Summary: This study demonstrates that stress-induced cardiomyopathy can lead to continuous deterioration of heart function and structure due to abnormalities in cardiac metabolism, contradicting the supposed reversibility of Takotsubo. This highlights the dysregulation of glucose metabolic pathways as a main cause of long-term cardiac disease.
NATURE COMMUNICATIONS
(2023)
Review
Oncology
Arthur S. Tischler, Judith Favier
Summary: Experimental models are crucial for understanding and developing treatments for pheochromocytoma and paraganglioma. While there are limitations in creating models that accurately reflect the genotype and phenotype of these tumors, progress has been made in animal models and primary cultures of human tumors. Challenges include heterogeneous cell populations and distinguishing drug effects on neoplastic and normal cells. Considerations for in vitro studies include species differences, phenotype drift, changes during the transition from tissue to cell culture, and culture conditions.
ENDOCRINE-RELATED CANCER
(2023)
