Article
Endocrinology & Metabolism
Thomas Huby, Edouard Le Guillou, Cyril Burin des Roziers, Laurence Pacot, Audrey Briand-Suleau, Albain Chansavang, Aurelie Toussaint, Veronique Duchossoy, Nicolas Vaucouleur, Virginie Benoit, Laurence Lode, Clemence Molac, Marie-Odile North, Sarah Grotto, Vassilis Tsatsaris, Anne Jouinot, Beatrix Cochand-Priollet, Anne-Cecile Paepegaey, Juliette Nectoux, Lionel Groussin, Eric Pasmant
Summary: This study demonstrates the use of functional genetic analysis to assess the pathogenicity of a MEN1 variant, providing crucial information for medical care and genetic counseling decisions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Lucie Coppin, Sophie Giraud, Eric Pasmant, Arnaud Lagarde, Marie-Odile North, Lauriane Le-Collen, Valerie Aubert, Gregory Mougel, Miriam Ladsous, Alyzee Louboutin, Hedia Brixi, Magalie Haissaguerre, Nicolas Scheyer, Marc Klein, Antoine Tabarin, Brigitte Delemer, Anne Barlier, Marie-Francoise Odou, Pauline Romanet
Summary: MEN1 syndrome is an autosomal dominant hereditary disorder characterized by various endocrine tumors. Research shows that mosaic MEN1 mutations do not manifest as milder phenotypes, and more systematic detection of these mutations can improve patient monitoring and genetic counseling.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Maya E. Lee, Yashira M. Ortega-Sustache, Sunita K. Agarwal, Aisha Tepede, James Welch, Adel Mandl, Rashika Bansal, Amit Tirosh, Paolo Piaggi, Craig Cochran, William F. Simonds, Lee S. Weinstein, Jenny E. Blau
Summary: MEN1 patients have an increased risk of venous thromboembolism (VTE), with a prevalence rate of 12.9% and an age-sex adjusted incidence rate of 9.11 per 1000 patient-years. The majority of patients who had a VTE were diagnosed with pancreatic NETs. Further studies are needed to confirm the increased prevalence of VTE in MEN1.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Oncology
Weihua Kong, Max Benjamin Albers, Jerena Manoharan, Joachim Nils Goebel, Peter Herbert Kann, Moritz Jesinghaus, Detlef Klaus Bartsch
Summary: The study found that initial pancreaticoduodenectomy (PD) is the superior surgical procedure for MEN1-ZES, leading to a long-term cure rate of about 80%, fewer duodenopancreatic reoperations, and an acceptable quality of life for patients.
Article
Medicine, General & Internal
Minjia Mo, Lluis Zacarias-Pons, Minh Tuan Hoang, Shayan Mostafaei, Pol Grau Jurado, Isidora Stark, Kristina Johnell, Maria Eriksdotter, Hong Xu, Sara Garcia-Ptacek
Summary: This study examines the temporal risk patterns of psychiatric disorders among patients with dementia before, at the time of, and after diagnosis. The findings highlight the significant increase in psychiatric disorders both before and after dementia diagnosis, emphasizing the importance of incorporating psychiatric preventative and management interventions for individuals with dementia across various diagnostic stages.
Article
Cell Biology
Yu Chen, Tatsuki Yamamoto, Yura Takahashi, Tomoka Moro, Tomoko Tajima, Yukiko Sakaguchi, Naoaki Sakata, Akihiko Yokoyama, Susumu Hijioka, Akane Sada, Yuko Tabata, Rieko Ohki
Summary: Insulin signaling plays a role in cancer regulation, and the PI3K-Akt-mTOR pathway is hyperactivated in PanNETs. A ketogenic diet resulted in lower PI3K-Akt-mTOR signaling, reducing the formation and progression of PanNETs. Lower blood glucose levels in non-functional PanNET patients are associated with better prognosis. This preclinical study highlights the suppressive effect of a dietary intervention on pancreatic and pituitary NETs through lower insulin signaling.
CELL DEATH & DISEASE
(2023)
Article
Biochemical Research Methods
Aurelien Beaude, Milad Rafiee Vahid, Franck Auge, Farida Zehraoui, Blaise Hanczar
Summary: In this article, a new deep-learning architecture called AttOmics is proposed, which uses the self-attention mechanism to capture specific interactions in patient-specific omics data. The experimental results demonstrate that AttOmics can accurately predict patient phenotype with fewer parameters compared to deep neural networks, and the visualization of attention maps provides insights into essential feature groups.
Article
Medicine, General & Internal
Xiaoying Li, Chang Gao, Yifan Wei, Zhaoyan Wen, Xinyu Li, Fanghua Liu, Tingting Gong, Shi Yan, Xue Qin, Song Gao, Yuhong Zhao, Qijun Wu
Summary: Sleep status is associated with the overall survival of ovarian cancer patients. Longer total and night sleep duration are associated with better survival, while later sleeping time, poor sleep quality, and bad sleep patterns are associated with poorer survival.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Yuanhua Lu, Jianan Zhao, Yafei Tian, Dan Shao, Zhiqi Zhang, Siqi Li, Jialin Li, Hugang Zhang, Wei Wang, Ping Jiao, Jie Ma
Summary: The study demonstrates that Men1 has conflicting roles in pulmonary fibrosis, as it attenuates fibrosis by inhibiting fibroblast activation and promoting macrophage fibrotic phenotype and migration. The profibrotic role of Men1 in macrophages may be mediated by regulating macrophage pyroptosis and OPN expression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Francesca Marini, Maria Luisa Brandi
Summary: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited multiple cancer syndrome, with a complex pathogenesis involving genetic factors, epigenetic factors, and other exogenous and endogenous factors. The microRNA miR-24 may play a significant role in the occurrence and development of MEN1 syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli, Maria Luisa Brandi
Summary: The secretin stimulation test can be used to diagnose gastrinomas early, even in the presence of normal or borderline levels of nonstimulated fasting serum gastrin.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Biochemistry & Molecular Biology
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Summary: Pancreatic neuroendocrine tumors (pNETs) are a rare group of cancers, accounting for about 1-2% of all pancreatic neoplasms, with some arising in patients with endocrine tumor syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1). MEN1-related pNETs present challenges in treatment due to their unique characteristics and the need for extensive surgery. Epigenetic-based therapies aiming to correct DNA methylation and histone modifications may offer a potential therapeutic strategy for MEN1 pNETs resistant to standard treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Kim Huat Goh, Le Wang, Adrian Yong Kwang Yeow, Hermione Poh, Ke Li, Joannas Jie Lin Yeow, Gamaliel Yu Heng Tan
Summary: Sepsis is a major cause of death in hospitals, and early prediction and diagnosis are challenging. The study develops an artificial intelligence algorithm using both structured data and unstructured clinical notes, demonstrating high predictive accuracy 12 hours before the onset of sepsis.
NATURE COMMUNICATIONS
(2021)
Article
Endocrinology & Metabolism
Stefanie Parisien La Salle, Gilles Corbeil, Zaki El-Haffaf, Caroline Duranceau, Mathieu Latour, Pierre Karakiewicz, Andre Lacroix, Isabelle Bourdeau
Summary: This case reports the first instance of adrenal collision tumors in a patient with a germline pathogenic variant of the MEN1 gene associated with MEN1 loss of heterozygosity in both oncocytic ACC and adenoma, as well as a somatic KCNJ5 pathogenic variant leading to aldosterone-producing adenoma. This case provides new insights into adrenal tumorigenesis in MEN1 patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Oncology
Jingxuan Zhao, Xuesong Han, Leticia Nogueira, Stacey A. Fedewa, Ahmedin Jemal, Michael T. Halpern, K. Robin Yabroff
Summary: Previous studies have shown that uninsured patients in the United States are more likely to be diagnosed with late-stage cancer and have worse survival rates. This report provides comprehensive data on the association between health insurance coverage type and stage at diagnosis and long-term survival in individuals diagnosed with common cancers between 2010 and 2013.
CA-A CANCER JOURNAL FOR CLINICIANS
(2022)
Letter
Endocrinology & Metabolism
Rolf H. H. Groenwold, Olaf M. Dekkers
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Kristina Laugesen, Leonie H. A. Broersen, Simon Boggild Hansen, Olaf M. Dekkers, Henrik Toft Sorensen, Jens Otto L. Jorgensen
Summary: Glucocorticoids are widely used anti-inflammatory medications, but can lead to adrenal insufficiency with varying risk and course among patients. Further research is needed to investigate risk factors, clinical implications, and predictors of glucocorticoid-induced adrenal insufficiency.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Rolf H. H. Groenwold, Jelle J. Goeman, Saskia Le Cessie, Olaf M. Dekkers
Summary: In medical research, the testing of multiple hypotheses raises the risk of false-positive conclusions. Methods to mitigate this risk are discussed.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Leonie H. A. Broersen, Amir H. Zamanipoor Najafabadi, Alberto M. Pereira, Olaf M. Dekkers, Wouter R. van Furth, Nienke R. Biermasz
Summary: A systematic review and meta-analysis of treatment effects on symptoms and health-related quality of life (HRQoL) in acromegaly found that both symptoms and HRQoL improved during treatment, with potential consensus needed on which symptoms to include in a core outcome set for clinical use and trials.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Pedro Marques, Friso de Vries, Olaf M. Dekkers, Wouter R. van Furth, Marta Korbonits, Nienke R. Biermasz, Alberto M. Pereira
Summary: The study found that there are differences in blood parameters and inflammation-based scores between patients with Cushing's disease and other PA subtypes, indicating a more prominent inflammatory response in Cushing's disease. Different types of PA patients show variations in blood parameters, and inflammation-based scores may help predict the severity of the disease.
Review
Endocrinology & Metabolism
Pedro Marques, Friso de Vries, Olaf M. Dekkers, Marta Korbonits, Nienke R. Biermasz, Alberto M. Pereira
Summary: Serum inflammation-based scores have been shown to be valuable in predicting the risk, clinical aggressiveness, disease outcomes, and prognosis in patients with endocrine tumors. Parameters such as the neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio have been extensively investigated in this patient population.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Letter
Medicine, General & Internal
Monique K. van der Kooij, Karijn P. M. Suijkerbuijk, Olaf M. Dekkers, Ellen Kapiteijn
ANNALS OF INTERNAL MEDICINE
(2021)
Editorial Material
Endocrinology & Metabolism
Sophie H. Bots, Rolf H. H. Groenwold, Olaf M. Dekkers
Summary: This article discusses the challenges and limitations of using Electronic Health Record (EHR) data for research, and provides suggestions on how to deal with these challenges. It serves as a quick guide for researchers interested in EHR-based research.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Review
Public, Environmental & Occupational Health
Jungyeon Choi, Olaf M. Dekkers, Saskia le Cessie
Summary: Many studies in observational research fail to handle medication use properly, and a significant number of studies use invalid methods to handle medication use.
PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
(2022)
Review
Cardiac & Cardiovascular Systems
Vera H. W. van der Endt, Jet Milders, Bas B. L. Penning de Vries, Serge A. Trines, Rolf H. H. Groenwold, Olaf M. Dekkers, Marco Trevisan, Juan J. Carrero, Merel van Diepen, Friedo W. Dekker, Ype de Jong
Summary: This study systematically reviewed and assessed the validity, updates, and methodological quality of multiple risk scores to predict ischemic stroke in patients with atrial fibrillation. The newer risk scores showed better discriminatory abilities, but further external validations and data on calibration are needed before considering their use in clinical practice.
Article
Endocrinology & Metabolism
Pia Burman, Jacqueline Trouillas, Marco Losa, Ann McCormack, Stephan Petersenn, Vera Popovic, Marily Theodoropoulou, Gerald Raverot, Olaf M. Dekkers
Summary: This study describes the characteristics and treatment outcomes of aggressive pituitary tumors (APT) and pituitary carcinomas (PC). Temozolomide is the first-line chemotherapy, but other therapies are also emerging. Predicting treatment response remains challenging with current biomarkers.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Yoshitaka Kimura, Marta de Riva, Micaela Ebert, Claire Glashan, Adrianus P. Wijnmaalen, Sebastiaan R. Piers, Olaf M. Dekkers, Serge A. Trines, Katja Zeppenfeld
Summary: In dilated cardiomyopathy (DCM), pleomorphic VT (PL-VT) is not associated with mortality but predicts VT recurrence independent from LVEF, indicating a specific arrhythmic substrate difficult to control by current ablation techniques. In ischemic heart disease (IHD), PL-VT is associated with low LVEF and mortality.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Jungyeon Choi, Olaf M. Dekkers, Saskia le Cessie
Summary: Ill-defined research questions can cause problems in epidemiological studies where measurements are subject to fluctuations due to events like medication use. Failing to specify how medication use should be handled during analysis can lead to arbitrary decisions and a disconnect between the intended question and analysis, resulting in different or meaningless interpretations of effects. This study discusses the formulation of well-defined research questions when medication use is involved, distinguishing between scenarios where exposure or outcome is affected by medication use and addressing methodological considerations under each question.
PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
(2023)
Review
Endocrinology & Metabolism
Anne-Sophie C. A. M. Koning, Merel van der Meulen, Daphne Schaap, Djaina D. Satoer, Christiaan H. Vinkers, Elisabeth F. C. van Rossum, Wouter R. van Furth, Alberto M. Pereira, Onno C. Meijer, Olaf M. Dekkers
Summary: The proportion of neuropsychiatric adverse effects in patients using synthetic glucocorticoids is high, with depression and mania being the most significant associations. Awareness of possible psychiatric side effects is essential when starting glucocorticoid treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Medard F. M. van den Broek, Joanne M. de Laat, Rachel S. van Leeuwaarde, Annenienke C. van de Ven, Wouter W. de Herder, Olaf M. Dekkers, Madeleine L. Drent, Michiel N. Kerstens, Peter H. Bisschop, Bas Havekes, Wenzel M. Hackeng, Lodewijk A. A. Brosens, Menno R. Vriens, Wieneke A. Buikhuisen, Gerlof D. Valk
Summary: Patients with MEN1-related lung NETs have slow-growing tumors and a good prognosis, with a high overall survival rate. No definitive risk factors for tumor growth or survival were identified in the study. Informed, shared decision-making should guide lung NET screening, balancing the low absolute risk of aggressive tumors in individuals with the potential harms of frequent thoracic imaging.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)