Article
Genetics & Heredity
Jean Pierre Bayley, Birke Bausch, Jeroen C. Jansen, Erik F. Hensen, Karin van der Tuin, Eleonora P. M. Corssmit, Peter Devilee, Hartmut P. H. Neumann
Summary: This study investigates the genotype-phenotype associations of SDHB gene variants and finds that truncating variants are associated with a higher risk of developing both PPGL and malignancy compared to missense variants. These findings further support the previously established associations between truncating variants and PPGL, and suggest that the two variant types differ in their impact on complex II function.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Otorhinolaryngology
Olaf M. Neve, Jeroen C. Jansen, Radboud W. Koot, Mischa de Ridder, Peter Paul G. van Benthem, Anne M. Stiggelbout, Erik F. Hensen
Summary: This study assessed the long-term quality of life (QoL) of patients with vestibular schwannoma in relation to treatment modality and decisional regret. The results showed that the long-term QoL was comparable for patients under active surveillance and those who received active treatment, and it remained stable over time. This suggests that, on average, preservation of QoL of patients with vestibular schwannoma is feasible when adequately managed.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Clinical Neurology
Maarten C. Kleijwegt, Radboud W. Koot, Andel G. L. van der Mey, Erik F. Hensen, Martijn J. A. Malessy
Summary: This study retrospectively analyzed the advantages and disadvantages of combining the translabyrinthine and classic retrosigmoid approaches. The results showed that the combined approach can safely remove large meningiomas and schwannomas in selected cases. This technique provides sufficient exposure.
JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE
(2023)
Article
Otorhinolaryngology
Kimberley S. S. Koetsier, Heiko Locher, Radboud W. W. Koot, Andel G. L. van Der Mey, Peter-Paul G. van Benthem, Jeroen C. C. Jansen, Erik F. F. Hensen
Summary: This study evaluates the natural course of hearing loss prior to treatment in patients with progressive tumors and an indication for active intervention. The majority of patients (58%) with radiologically confirmed progressive vestibular schwannomas experience progressive sensorineural HL during observation.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Clinical Neurology
Kimberley S. Koetsier, William A. Mehan, Karen Buch, D. Bradley Welling, Peter Paul G. van Benthem, Erik F. Hensen, Helen A. Shih
Summary: This study aimed to quantitatively evaluate the occurrence and course of signal intensity (SI) loss on T2-weighted MRI in vestibular schwannoma patients, and its possible association with proton radiotherapy and hearing loss. The results demonstrated that the relative mean cochlear SI was diminished on the treated side, but did not further decrease after proton radiotherapy. The diminished cochlear SI was not correlated with subsequent loss of hearing.
OTOLOGY & NEUROTOLOGY
(2023)
Article
Clinical Neurology
Constanza Fuentealba-Bassaletti, Olaf M. Neve, Babette F. van Esch, Jeroen C. Jansen, Radboud W. Koot, Peter Paul G. van Benthem, Erik F. Hensen
Summary: This study analyzed the impact of dizziness-related symptoms on the long-term quality of life of patients with unilateral vestibular schwannoma. It found that even mild dizziness can significantly affect the quality of life of these patients. Emotional well-being was the most affected aspect, while treatment modality did not have a clinically relevant effect on dizziness-related quality of life.
OTOLOGY & NEUROTOLOGY
(2023)
Article
Statistics & Probability
Anna Vesely, Livio Finos, Jelle J. Goeman
Summary: In this paper, a general closed testing procedure for sum tests is proposed, which provides lower confidence bounds for the proportion of true discoveries (TDP) simultaneously over all subsets of hypotheses. The proposed method allows for exploratory approaches and adapts to the unknown joint distribution of the data through permutation testing. An iterative shortcut based on the branch and bound algorithm is presented for the closed testing procedure, which achieves convergence to the full closed testing results.
JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY
(2023)
Article
Statistics & Probability
Jelle J. Goeman, Pawel Gorecki, Ramin Monajemi, Xu Chen, Thomas E. Nichols, Wouter Weeda
Summary: Cluster inference based on spatial extent thresholding is a popular method for analyzing multiple testing in spatial data, commonly used in neuroimaging to identify activated brain areas. This paper addresses some limitations of the method by introducing a closed testing procedure that allows for inference of signal presence and quantification of activation percentage in regions of interest. The proposed method does not require adjustment of alpha-level and maintains family-wise error control.
JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY
(2023)
Article
Otorhinolaryngology
Olaf M. Neve, Stephan R. Romeijn, Yunjie Chen, Larissa Nagtegaal, Willem Grootjans, Jeroen C. Jansen, Marius Staring, Berit M. Verbist, Erik F. Hensen
Summary: This study validates the accuracy of automated 2D diameter measurements of vestibular schwannomas on MRI by comparing them with manual measurements. The results show high correlation and agreement between automated and human measurements, with automated measurements performing better in tumor progression detection.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Clinical Neurology
M. C. Kleijwegt, C. Wever, E. F. Hensen, J. C. Jansen, R. W. Koot, M. J. A. Malessy
Summary: This study assessed the ability to smile after a hypoglossal-facial nerve transfer (N12-N7). It was found that there was good facial symmetry at rest but asymmetry during smiling. Additional procedures are needed to improve the ability to smile after N12-N7 transfer.
JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE
(2023)
Review
Oncology
Djoko Santoso, Mochammad Thaha, Maulana A. Empitu, Ika Nindya Kadariswantiningsih, Satriyo Dwi Suryantoro, Mutiara Rizki Haryati, Decsa Medika Hertanto, Dana Pramudya, Siprianus Ugroseno Yudho Bintoro, Nasronudin Nasronudin, Mochamad Yusuf Alsagaff, Hendri Susilo, Citrawati Dyah Kencono Wungu, Nicolaas C. Budhiparama, Pancras C. W. Hogendoorn
Summary: Osteitis fibrosa cystica (OFC) and Brown Tumours are rare bone lesions associated with chronic kidney disease. The mechanism of these conditions is not well understood, but recent literature suggests that factors such as overactivation of the renin-angiotensin-aldosterone system and chronic inflammation may contribute to their occurrence through osteoclast activation. In addition, hotspot KRAS mutations have been identified in these lesions, placing them in the spectrum of RAS-MAPK-driven neoplasms. Risk factors for OFC and Brown Tumours include age, gender, comorbidities, and certain medications. Diagnosis involves clinical symptoms of chronic bone pain and laboratory findings of hyperparathyroidism, as well as radiological imaging and histological examination.
Article
Oncology
Jules P. J. Douwes, Kimberley S. Koetsier, Victor S. van Dam, Scott R. Plotkin, Frederick G. Barker, D. Bradley Welling, Jeroen C. Jansen, Erik F. Hensen, Helen A. Shih
Summary: The management of vestibular schwannomas in neurofibromatosis type 2-related schwannomatosis (NF2) is complex. Current treatment strategies include active surveillance, surgery, radiotherapy, and pharmacotherapy. This study found that the majority of NF2 patients was treated with proton radiotherapy as salvage treatment for vestibular schwannoma. However, they did experience significant tumor and/or treatment-related side effects. The value of proton radiotherapy as a primary treatment for vestibular schwannomas in NF2 patients remains to be determined.
Article
Physiology
Ramzi Khalil, Josephine D. D. Bonnemaijer, Reinhold Kreutz, Herman P. Spaink, Pancras C. W. Hogendoorn, Hans J. Baelde
Summary: Transmembrane protein 14A (TMEM14A) is an important protein involved in maintaining the integrity of the glomerular filtration barrier. It suppresses Bax-mediated apoptosis and its expression is increased in proteinuric renal diseases.
PHYSIOLOGICAL REPORTS
(2023)
Review
Immunology
Marloes M. A. R. van Dorst, Jeremia J. Pyuza, Gyaviira Nkurunungi, Vesla I. Kullaya, Hermelijn H. Smits, Pancras C. W. Hogendoorn, Linda J. Wammes, Bart Everts, Alison M. Elliott, Simon P. Jochems, Maria Yazdanbakhsh
Summary: There is considerable variation in efficacy of vaccines across populations and geographical regions, which is influenced by multiple environmental factors. Current interventions targeting these factors have had variable success, highlighting the need for a better understanding of the immunological mechanisms involved in vaccine responses.
NATURE REVIEWS IMMUNOLOGY
(2023)
Meeting Abstract
Oncology
Paul Kemps, Jennifer Picarsic, Benjamin H. Durham, Zofia Helias-Rodzewicz, Laura Hiemcke-Jiwa, Cor van den Bos, Marianne D. van Dewetering, Carel J. M. van Noesel, Pancras C. W. Hogendoorn, F. J. Sherida H. Woei-A-Jin, Raf Sciot, Andreas Beilken, Friedrich Feuerhake, Martin Ebinger, Robert Mohle, Falko Fend, Antje Bornemann, Verena Wiegering, Karen Ernestus, Tina Mery, Olga Gryniewicz-Kwiatkowska, Bozenna Dembowska-Baginska, Dmitry A. Evseev, Vsevolod Potapenko, Vadim V. Baykov, Stefania Gaspari, Sabrina Rossi, Marco Gessi, Gianpiero Tamburrini, Sebastien Heritier, Jacinthe Bonneau-Lagacherie, Claire Lamaison, Laure Farnault, Sylvie Fraitag, Jean Donadieu, Julien Haroche, Matthew Collin, Jackie Allotey, Majid Madni, Kerry Turner, Susan Picton, Pasquale M. Barbaro, Dina El Demellawy, Brianna Empringham, James A. Whitlock, Aditya Raghunathan, Amy A. Swanson, Mariko Suchi, Jon M. Brandt, Nabeel R. Yaseen, Joanna L. Weinstein, Irem Eldem, Bryan A. Sisk, Vaishnavi Sridha, Mandy Atkinson, Lucas R. Massoth, Jason L. Hornick, Sanda Alexandrescu, Kee Kiat Yeo, Kseniya Petrova-Drus, Stephen Z. Peeke, Laura S. Munoz-Arcos, Daniel G. Leino, David D. Grier, Robert Lorsbach, Somak Roy, Ashish R. Kumar, Shipra Garg, Nishant Tiwari, Kristian T. Schafernak, Michael M. Henry, Astrid G. S. van Halteren, Oussama Abla, Eli L. Diamond, Jean-Francois Emile
PEDIATRIC BLOOD & CANCER
(2022)