Article
Clinical Neurology
Katarzyna Bobeff, Karolina Krajewska, Dobromila Baranska, Katarzyna Kotulska, Sergiusz Jozwiak, Wojciech Mlynarski, Joanna Trelinska
Summary: The study indicates that maintenance therapy with everolimus may be an effective therapeutic option for patients with tuberous sclerosis and subependymal giant cell astrocytoma, providing a certain level of efficacy and safety, stabilizing the condition, and with a lower frequency of adverse events during maintenance therapy. It is recommended to carefully monitor for possible disease progression during maintenance therapy, especially in the first six months.
FRONTIERS IN NEUROLOGY
(2021)
Review
Medicine, General & Internal
Chao Gao, Bernadeta Zabielska, Fuyong Jiao, Daoqi Mei, Xiaona Wang, Katarzyna Kotulska, Sergiusz Jozwiak
Summary: Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by tumors in multiple organs, which is caused by mutations inactivating TSC1 or TSC2 genes. Subependymal giant cell astrocytoma (SEGA) is a slow-growing brain tumor almost exclusively associated with TSC. The management of SEGA requires careful consideration of pharmacological or surgical treatment options.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Clinical Neurology
Audrey Grossen, Theresa Gavula, Deepti Chrusciel, Alexander Evans, Rene McNall-Knapp, Ashley Taylor, Benay Fossey, Margaret Brakefield, Carrick Carter, Nadine Schwartz, Naina Gross, Andrew Jea, Virendra Desai
Summary: This study systematically reviewed the layouts of multidisciplinary clinics worldwide and described the experience of managing neurocutaneous syndromes at a pediatric clinic. The study found that neurofibromatosis was the most common neurocutaneous syndrome, and genetics and neurology were the most commonly represented subspecialties in these clinics. The study concluded that more detailed information on clinic compositions and patient data is needed to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.
NEUROSURGICAL FOCUS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Gokcen Coban, Ekim Gumeler, Safak Parlak, Bahadir Konuskan, Jale Karakaya, Dilek Yalnizoglu, Banu Anlar, Kader K. Oguz
Summary: SyMRI enables the detection and quantification of morphometric and tissue alterations in pediatric TSC patients. It shows better performance in detecting tubers compared to conventional MRI and provides additional quantitative information.
INSIGHTS INTO IMAGING
(2022)
Article
Biochemistry & Molecular Biology
Clevia Rosset, Mariane da Cunha Jaeger, Eduardo Filippi-Chiela, Larissa Brussa Reis, Ivaine Tais Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patricia Ashton-Prolla
Summary: This study evaluated cellular processes regulated by mTORC1 in TSC cells and found alterations in autophagy in non-tumor TSC cells, which could be an important mechanism leading to TSC tumor formation.
GENETICS AND MOLECULAR BIOLOGY
(2021)
Review
Medicine, General & Internal
Alaa N. Turkistani, Mahmoud Fallatah, Aliaa H. Ghoneim, Fahad Alghamdi, Saleh S. Baeesa
Summary: Subependymal giant cell astrocytoma (SEGA) is the most common intracranial tumor in tuberous sclerosis (TS) patients. It usually grows near Monro's foramen, causing hydrocephalus and increased intracranial pressure (ICP). However, acute symptoms due to intratumoral bleeding are rare in SEGA patients.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Ergin Erginoz, Halit Eren Taskin, Gokce Hande Cavus, Abdullah Kagan Zengin
Summary: Tuberous sclerosis complex is a genetic disorder with manifestations in various organs due to mutations in tumor suppressor genes. Perivascular epithelioid cell tumors, including lymphangioleiomyomatosis, have been linked to these gene mutations. The study presented a case of a 28-year-old woman with multiple manifestations of tuberous sclerosis complex, who underwent surgical procedures for colonic tumor and subsequently developed SARS-CoV-2 infection.
Article
Surgery
Imran Ghani, Sabina Patel, Prajwal Ghimire, Istvan Bodi, Ranjeev Bhangoo, Francesco Vergani, Keyoumars Ashkan, Jose Pedro Lavrador
Summary: SEGA is a common diagnosis in patients with Tuberous Sclerosis, and surgical treatment is often necessary. However, resection may pose a risk to cognitive function due to its anatomical relation with critical structures. Target subtotal resections that focus on higher metabolic areas can be valuable options to address specific problems caused by the tumor, while preserving quality of life. In this report, the authors explore the potential role of 5-ALA in identifying highly metabolic areas during SEGA resection in minimal invasive approaches.
FRONTIERS IN SURGERY
(2023)
Article
Pediatrics
Huatao Zhou, Zilong Zheng, Zhi Tu, Yichen Li, Jinfu Yang, Chengming Fan
Summary: This case illustrates that not all TSC cases exhibit detectable TSC gene mutations. Current treatment strategies, such as mTOR inhibitors, offer potential effectiveness in managing associated cardiac rhabdomyomas.
FRONTIERS IN PEDIATRICS
(2023)
Review
Clinical Neurology
Michael O'Rawe, Arjun S. Chandran, Stuti Joshi, Alexandre Simonin, Jason M. Dyke, Sharon Lee
Summary: SEGA is a WHO grade I tumor commonly associated with TSC, but rare in the absence of TSC. We presented the youngest case of SEGA without genetic or phenotypic evidence of TSC with a 10-year follow-up. Discussion includes an overview of isolated SEGA diagnosis, management, and prognosis literature.
CHILDS NERVOUS SYSTEM
(2021)
Article
Clinical Neurology
Frank J. Barbiero, Anita J. Huttner, Robert K. Fulbright, Joachim M. Baehring
Summary: The article presents an unusual cause of intracranial hemorrhage in a young adult - tuberous sclerosis complex. The case demonstrates that recognizing an underlying genetic predisposition can help reduce diagnostic delay and facilitate timely treatment when life-threatening complications occur.
Article
Clinical Neurology
Xiaojun Zeng, Diana S. Dorstyn, Georgina Edwards, Ian Kneebone
Summary: Insomnia is a common complaint for adults with multiple sclerosis, but it is difficult to determine the prevalence due to measurement and clinical variability. This review provides a global estimate of insomnia disorders and symptoms in multiple sclerosis, highlighting the higher prevalence of self-reported symptoms compared to diagnostic tools.
SLEEP MEDICINE REVIEWS
(2023)
Article
Clinical Neurology
Kyoichi Tomoto, Ayataka Fujimoto, Chikanori Inenaga, Tohru Okanishi, Shin Imai, Masaaki Ogai, Akiko Fukunaga, Hidenori Nakamura, Keishiro Sato, Akira Obana, Takayuki Masui, Yoshifumi Arai, Hideo Enoki
Summary: The study reviewed the treatment of Subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) and found that with the availability of mammalian target of rapamycin inhibitors (mTORi), opportunities for surgical resection of SEGA significantly decreased, with patients preferring pharmacotherapy instead.
Article
Clinical Neurology
Tsuyoshi Sasaki, Takehiro Uda, Ichiro Kuki, Noritsugu Kunihiro, Shin Okazaki, Yo Niida, Takeo Goto
Summary: This study reports three patients with genetically investigated solitary subependymal giant cell astrocytomas (SEGAs) with TSC2 somatic mutations and loss of heterozygosity (LOH). These patients did not experience tumor recurrence or clinical manifestations of TSC during a 4-year follow-up, suggesting that solitary SEGAs may be caused by TSC2 mutations with LOH and may manifest clinically later in life.
CHILDS NERVOUS SYSTEM
(2022)
Correction
Genetics & Heredity
Krinio Giannikou, Kathryn D. Lasseter, Joannes M. Grevelink, Magdalena E. Tyburczy, Kira A. Dies, Zachary Zhu, Lana Hamieh, Bruce M. Wollison, Aaron R. Thorner, Stephen J. Ruoss, Elizabeth A. Thiele, Mustafa Sahin, David J. Kwiatkowski
Summary: A correction to the paper has been published.
GENETICS IN MEDICINE
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Nikolas Lessmann, Clara Sanchez, Ludo Beenen, Luuk H. Boulogne, Monique Brink, Erdi Calli, Jean-Paul Charbonnier, Ton Dofferhoff, Wouter M. van Everdingen, Paul K. Gerke, Bram Geurts, Hester A. Gietema, Miriam Groeneveld, Louis van Harten, Nils Hendrix, Ward Hendrix, Henkjan J. Huisman, Ivana Isgum, Colin Jacobs, Ruben Kluge, Michel Kok, Jasenko Krdzalic, Bianca Lassen-Schmidt, Kicky van Leeuwen, James Meakin, Mike Overkamp, Tjalco van Rees Vellinga, Eva M. van Rikxoort, Riccardo Samperna, Cornelia Schaefer-Prokop, Steven Schalekamp, Ernst Th Scholten, Cheryl Sital, J. Lauran Stoeger, Jonas Teuwen, Kiran Vaidhya Venkadesh, Coen de Vente, Marieke Vermaat, Weiyi Xie, Bram de Wilde, Mathias Prokop, Bram van Ginneken
Summary: An AI system was developed to analyze chest CT scans of patients with suspected COVID-19, demonstrating high diagnostic performance and good agreement with human observers' findings.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Cornelia Schaefer-Prokop, Mathias Prokop
Article
Biology
Sosse E. Klarenbeek, Olga C. J. Schuurbiers-Siebers, Michel M. van den Heuvel, Mathias Prokop, Marcia Tummers
Summary: Oncological computerized clinical decision support systems (CCDSS) are being developed to streamline multidisciplinary team meetings (MDTMs) in oncology care. Barriers and facilitators for successful implementation of CCDSS were identified, with easy access to patient data and reduced preparation time as main facilitators, while incomplete output and lack of system adaptability were main barriers. Actionable findings for implementation included usability testing and involvement of key users in real-life settings.
Article
Radiology, Nuclear Medicine & Medical Imaging
Luuk J. Oostveen, Frederick J. A. Meijer, Frank de Lange, Ewoud J. Smit, Sjoert A. Pegge, Stefan C. A. Steens, Martin J. van Amerongen, Mathias Prokop, Ioannis Sechopoulos
Summary: In the study, the DLR algorithm showed superior image quality compared to Hybrid-IR and MBIR for cerebral non-contrast CT scans, with lower noise and improved tissue differentiation. Although DLR had a slightly longer reconstruction time, it provided significant advantages in image quality over the other two reconstruction methods.
EUROPEAN RADIOLOGY
(2021)
Article
Respiratory System
Anton Schreuder, Colin Jacobs, Nikolas Lessmann, Mireille J. M. Broeders, Mario Silva, Ivana Isgum, Pim A. de Jong, Nicola Sverzellati, Mathias Prokop, Ugo Pastorino, Cornelia M. Schaefer-Prokop, Bram van Ginneke
Summary: The study aimed to combine CT measures and patient characteristics to derive risk models for lung cancer incidence, CVD mortality, and COPD mortality, and found that CT measures improved lung cancer risk prediction accuracy, while patient characteristics did not add additional predictive value when CT information was available.
EUROPEAN RESPIRATORY JOURNAL
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Kiran Vaidhya Venkadesh, Arnaud A. A. Setio, Anton Schreuder, Ernst T. Scholten, Kaman Chung, Mathilde M. W. Wille, Zaigham Saghir, Bram van Ginneken, Mathias Prokop, Colin Jacobs
Summary: The deep learning algorithm developed in this study showed excellent performance in estimating the malignancy risk of pulmonary nodules detected at screening CT, outperforming the PanCanadian model in certain cohorts and performing comparably to thoracic radiologists. This algorithm has the potential to provide reliable and reproducible malignancy risk scores for clinicians, which may help optimize management in lung cancer screening.
Letter
Radiology, Nuclear Medicine & Medical Imaging
Roelof J. Bennink, Mathias Prokop, Andor W. J. M. Glaudemans, Liesbeth Peters-Bax, Jasper H. G. Helthuis, Arthur Adams, Peter R. Kornaat, Adriaan A. Lammertsma, Lenka M. Pereira Arias-Bouda
JOURNAL OF NUCLEAR MEDICINE
(2021)
Article
Oncology
Anton Schreuder, Onno M. Mets, Cornelia M. Schaefer-Prokop, Colin Jacobs, Mathias Prokop
Summary: The study suggests that conducting three additional annual CT screening rounds in the National Lung Screening Trial may lead to substantial reduction in lung cancer mortality, with earlier diagnosis of lung cancer patients compared to original screening methods.
Article
Clinical Neurology
Hidenori Mitani, Fuminari Tatsugami, Toru Higaki, Yoko Kaichi, Yuko Nakamura, Ewoud Smit, Mathias Prokop, Chiaki Ono, Ken Ono, Yukunori Korogi, Kazuo Awai
Summary: The study demonstrated that thin-slice MBIR designed for brain CT may improve the detection of acute MCA stroke. MBIR images had lower image noise, higher contrast-to-noise ratio, and a larger area under the ROC curve compared to hybrid IR images.
Article
Oncology
Anton Schreuder, Mathias Prokop, Ernst T. Scholten, Onno M. Mets, Kaman Chung, Firdaus A. A. Mohamed Hoesein, Colin Jacobs, Cornelia M. Schaefer-Prokop
Summary: The risk assessment of pulmonary nodules on chest computed tomography is crucial for early detection of lung cancer. Findings suggest that the number and types of nodules on CT scans may be predictive of future development of lung cancer at different locations. The study highlights the importance of utilizing information from whole scans to improve accuracy in lung cancer risk assessment.
Review
Oncology
Lejla Koco, Harm H. A. Weekenstroo, Doenja M. J. Lambregts, J. P. Michiel Sedelaar, Mathias Prokop, Jurgen J. Futterer, Ritse M. Mann
Summary: Multidisciplinary team meetings have been increasingly implemented in cancer care worldwide, with significant impacts on treatment decisions, patient outcomes, and process outcomes despite being time-consuming and expensive. Further high-quality research is needed to explore the impact of these meetings on healthcare quality.
Article
Medicine, General & Internal
Geke Litjens, Christian Gerges, Yogesh M. Shastri, Piyush Somani, Torsten Beyna, Horst Neuhaus, Cornelis J. H. M. van Laarhoven, Mathias Prokop, Peter D. Siersema, John J. Hermans, Erwin J. M. van Geenen
Summary: The puncture biopsy forceps (PBF) needle shows promise as a safe and potentially useful device for obtaining EUS-guided biopsy specimens with high diagnostic accuracy and sample adequacy. While all participating endoscopists experienced a learning curve, specific training is likely to further improve the device's performance. Further improvements in the needle's design are needed to enhance its robustness in clinical practice.
Article
Radiology, Nuclear Medicine & Medical Imaging
G. Litjens, C. J. H. M. van Laarhoven, M. Prokop, E. J. M. van Geenen, J. J. Hermans
Summary: This retrospective study analyzed the effectiveness of routine CECT in staging and determining resectability of duodenal adenocarcinoma. The results showed that CECT underestimates T-stage and N-stage, and M-stage is often unclear, resulting in futile surgery for some patients.
ABDOMINAL RADIOLOGY
(2022)
Meeting Abstract
Radiology, Nuclear Medicine & Medical Imaging
E. Aarntzen, E. van Genugten, J. van Steenis, W. Hoefsloot, F. van de Veerdonk, M. Netea, M. Prokop
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2021)
Review
Oncology
Annemiek Snoeckx, Caro Franck, Mario Silva, Mathias Prokop, Cornelia Schaefer-Prokop, Marie-Pierre Revel
Summary: Lung cancer remains the deadliest cancer worldwide, with early detection through screening playing a crucial role in reducing cancer-specific mortality. Radiologists are essential stakeholders in lung cancer screening, being key players in multidisciplinary teams and implementation of high quality screening programs.
TRANSLATIONAL LUNG CANCER RESEARCH
(2021)
