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Daniel Lewis, Timothy P Dawson, Rebecca Hyde, George Adrian Rata, Andrew F Alalade, Kaushik Ghosh, Ahmed Elhabal
INTRODUCTION: Leptomeningeal melanocytomas are rare tumours originating from neural crest derived melanocytes. They are usually solitary and presentation with multifocal meningeal melanocytoma is very rare and indicative of potentially more aggressive behaviour. This case report and scoping review sought to evaluate the presentation, and key radiological features that can help differentiate multifocal meningeal melanocytoma from other differentials and provide a discussion of the key management and prognostic points once these tumours are diagnosed...
2024: Brain Spine
#2
JOURNAL ARTICLE
Takeshi Wakabayashi, Ryota Tamura, Kosuke Karatsu, Makoto Hosoya, Takanori Nishiyama, Yasuhiro Inoue, Kaoru Ogawa, Jin Kanzaki, Masahiro Toda, Hiroyuki Ozawa, Naoki Oishi
OBJECTIVES: To determine the natural history of hearing loss and tumor volume in patients with untreated neurofibromatosis type 2 (NF2)-related schwannomatosis. Moreover, we statistically examined the factors affecting hearing prognosis. METHODS: This retrospective cohort study was conducted on 37 ears of 24 patients with NF2-related vestibular schwannomatosis followed up without treatment for more than 1 year. We obtained detailed chronological changes in the PTA and tumor volume in each case over time, and the rate of change per year was obtained...
April 5, 2024: European Archives of Oto-rhino-laryngology
#3
Xiaotian Li, Xianwen Hu, Pan Wang, Jiong Cai
Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma. The most common location of schwannomatosis is the head and neck, as well as the limbs, while multiple schwannomas in the lumbosacral canal and lower extremities are relatively rare. In this study, we report a 79-year-old woman diagnosed with schwannomatosis. MRI and contrast-enhanced imaging revealed multiple schwannomas in both lower extremities...
2024: Frontiers in Medicine
#4
JOURNAL ARTICLE
Alexandra E Tunkel, Emily R Youner, Hayk Barseghyan, Yulong Fu, Surajit Bhattacharya, Miriam Bornhorst, Ashkan S Monfared
OBJECTIVES: Distinguishing between sporadic and germline/mosaic NF2-related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2-related schwannomatosis. METHODS: We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC)...
March 25, 2024: American Journal of Clinical Pathology
#5
Minh-Anh Le, Rachel Shi, Justin Geraghty, Vania Zayat, Jignesh Parikh
Schwannomas are benign nerve sheath tumors commonly found in the head, neck, vestibular system, and extremities. Primary hepatic schwannomas are exceptionally rare, with 34 cases reported to date according to our review of the literature. This case report describes a 79-year-old man with a medical history of skin and thyroid cancer, who presented with no clinical symptoms and underwent a follow-up MRI due to an initial scan indicating a suspicious hepatic mass resembling an atypical hemangioma. The MRI revealed a 3...
February 2024: Curēus
#6
JOURNAL ARTICLE
Anna Freier, Anna C Lawson McLean, Denise Loeschner, Steffen K Rosahl, Johannes Kruse
NF2-related schwannomatosis (NF2-SWN) is a rare genetic disorder and is associated with progressive morbidities. This study aimed to investigate the relationship between NF2-SWN disease severity, health-related Quality of Life (QoL), and mental health aspects of patients. Standardised questionnaires assessing mental health problems (symptoms of depression, anxiety, and somatic burden), psychological factors (resilience, loneliness, and personality functioning), and health-related QoL were administered to 97 patients with NF2-SWN...
March 23, 2024: Scientific Reports
#7
JOURNAL ARTICLE
Baptiste Grenier, Isabelle Mosnier, Evelyne Ferrary, Yann Nguyen, Olivier Sterkers, Michel Kalamarides, Ghizlene Lahlou, Hannah Daoudi
OBJECTIVE: To evaluate long-term hearing outcomes following cochlear implantation in patients with neurofibromatosis type 2 and ipsilateral vestibular schwannoma. STUDY DESIGN: Retrospective study. SETTING: Tertiary general hospital. METHODS: Twenty-two patients undergoing cochlear implantation between 2004 and 2018 with at least 1 year of follow-up were included. Patients were categorized as "users" or "nonusers" of their cochlear implant (CI)...
March 14, 2024: Otolaryngology—Head and Neck Surgery
#8
JOURNAL ARTICLE
Shuang Li, Jingwen Han, Xiaoping Zhang, Yunfeng Qi, Jie Du, Lirong Zhao
Schwannomatosis is characterized by the development of multiple schwannomas without evidence of vestibular tumors. Segmental schwannomatosis is defined as being limited to one limb or five or fewer contiguous segments of the spine. We report a case of a 20-year-old male with the painful masses of the left upper extremity with associated numbness and paresthesia in the ulnar nerve distribution. The high-frequency ultrasound showed that the ulnar nerve fascicles were enlarged and expanded with beadlike growth...
March 11, 2024: Skeletal Radiology
#9
Saurav Neupane, Ashutosh Kashyap, Shreeram Paudel, Ganesh Bhattarai, Santosh K Kharel, Asim Adhikari, Ashim Ghimire, Simankan Pokharel, Pratibha Yadav, Krishna K Yadav
INTRODUCTION: Schwannomatosis is characterized by multiple schwannomas without vestibular schwannomas or any other stigmata of neurofibromatosis type 2 (NF2). Schwannomatosis is a rare disorder, with a reported incidence ranging from 1 in 40 000 to 1 in 1.7 million. Meningioma is also associated with schwannomatosis in around 5% of cases. CASE PRESENTATION: We describe a case of a 20-year-old female presenting with progressive weakness of the right lower limb for 7 months with a tingling sensation and numbness of the same limb for 6 months and was found to have schwannomatosis with multiple spinal and right cerebellopontine angle (CPA) (9th/10th cranial nerve) schwannomas and left anterior cranial fossa meningioma...
March 2024: Annals of Medicine and Surgery
#10
JOURNAL ARTICLE
Siegfried J Adelhoefer, James Feghali, Sharika Rajan, Charles G Eberhart, Verena Staedtke, Alan R Cohen
NF2-related schwannomatosis (NF2) is a rare autosomal-dominant genetic disorder characterized by bilateral vestibular schwannomas and multiple meningiomas. This case report presents the extremely rare occurrence of an anaplastic meningioma in a 12-year-old male with previously undiagnosed NF2. The patient presented with a history of abdominal pain and episodic emesis, gait unsteadiness, right upper and lower extremity weakness, and facial weakness. He had sensorineural hearing loss and wore bilateral hearing aids...
March 7, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#11
JOURNAL ARTICLE
Stefan K Plontke, Katrin Hoffmann, Per Caye-Thomasen, Sevjidmaa Baasanjav, Sabrina Kösling, Sandra Leisz, Arne Liebau, Christian Mawrin, Torsten Rahne, Jonas Scheffler, Christian Strauss, Udo Siebolts
OBJECTIVE: To describe the genetic characteristics and the management of two very rare cases of unilateral multifocal inner ear and internal auditory canal or cerebellopontine angle cochleovestibular schwannomas not being associated to full neurofibromatosis type 2-related schwannomatosis. PATIENTS: In a 29-year-old man and a 55-year-old woman with single-sided deafness multifocal unilateral cochleovestibular schwannomas were surgically resected, and hearing was rehabilitated with a cochlear implant (CI)...
March 4, 2024: Otology & Neurotology
#12
REVIEW
Bo Wang, Minjun Yan, Congyu Liu, Zhijun Yang, Xingchao Wang, Fu Zhao, Zhenmin Wang, Peng Li, Ying Wang, Shiwei Li, Gemingtian Liu, Pinan Liu
BACKGROUND: NF2-schwannomatosis (NF2) is an autosomal dominant disorder prone to hearing loss. Auditory brainstem implants (ABIs) offer a promising solution for hearing rehabilitation in NF2. OBJECTIVE: To synthesize existing literature on ABI implantation in NF2, focusing on audiological outcomes and ABI-related complications. METHODS: The systematic review followed PRISMA guidelines and was registered in the PROSPERO database (CRD42022362155)...
February 27, 2024: NeuroRehabilitation
#13
JOURNAL ARTICLE
Phioanh Leia Nghiemphu, Jeremie Vitte, Eva Dombi, Thien Nguyen, Naveed Wagle, Akira Ishiyama, Ali R Sepahdari, David Cachia, Brigitte C Widemann, Derald E Brackmann, Joni K Doherty, Michel Kalamarides, Marco Giovannini
PURPOSE: NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas (VS) often causing hearing and neurologic deficits, with currently no FDA-approved drug treatment. Pre-clinical studies highlighted the potential of mTORC1 inhibition in delaying schwannoma progression. We conducted a prospective open-label, phase II study of everolimus for progressive VS in NF2 patients and investigated imaging as a potential biomarker predicting effects on growth trajectory...
February 19, 2024: Journal of Neuro-oncology
#14
JOURNAL ARTICLE
Anna Nagel, Julianne Huegel, Alejandra Petrilli, Rosa Rosario, Berta Victoria, Haley M Hardin, Cristina Fernandez-Valle
Neurofibromatosis Type 2 (NF2)-related schwannomatosis is a genetic disorder that causes development of multiple types of nervous system tumors. The primary and diagnostic tumor type is bilateral vestibular schwannoma. There is no cure or drug therapy for NF2. Recommended treatments include surgical resection and radiation, both of which can leave patients with severe neurological deficits or increase the risk of future malignant tumors. Results of our previous pilot high-throughput drug screen identified phosphoinositide 3-kinase (PI3K) inhibitors as strong candidates based on loss of viability of mouse merlin-deficient Schwann cells (MD-SCs)...
February 9, 2024: Oncogene
#15
JOURNAL ARTICLE
Heather L Thompson, Jane Grabowski, Barbara Franklin, Kimberley S Koetsier, D Bradley Welling
BACKGROUND: Neurofibromatosis type 2-related schwannomatosis is a genetic disease characterized by the development of bilateral vestibular schwannomas, ependymomas, meningiomas, and cataracts. Mild to profound hearing loss and tinnitus are common symptoms reported by individuals with neurofibromatosis type 2. While tinnitus is known to have a significant and negative impact on the quality of life of individuals from the general population, the impact on individuals with neurofibromatosis type 2 is unknown...
February 6, 2024: Clinical Trials: Journal of the Society for Clinical Trials
#16
JOURNAL ARTICLE
Cristina Perez-Becerril, George J Burghel, Claire Hartley, Charles F Rowlands, D Gareth Evans, Miriam J Smith
PURPOSE: To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial NF2 -related schwannomatosis. METHODS: We conducted genetic screening of a cohort of 168 second-generation individuals meeting the clinical criteria for NF2 -related schwannomatosis. In addition to the current clinical screening techniques, targeted next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification analysis, we applied additional genetic screening techniques, including karyotype and RNA analysis...
February 1, 2024: Journal of Medical Genetics
#17
JOURNAL ARTICLE
Sina Neyazi, Erika Yamazawa, Karoline Hack, Shota Tanaka, Genta Nagae, Catena Kresbach, Takayoshi Umeda, Alicia Eckhardt, Kenji Tatsuno, Lara Pohl, Taijun Hana, Michael Bockmayr, Phyo Kim, Mario M Dorostkar, Toshihiro Takami, Denise Obrecht, Keisuke Takai, Abigail K Suwala, Takashi Komori, Shweta Godbole, Annika K Wefers, Ryohei Otani, Julia E Neumann, Fumi Higuchi, Leonille Schweizer, Yuta Nakanishi, Camelia-Maria Monoranu, Hirokazu Takami, Lara Engertsberger, Keisuke Yamada, Viktoria Ruf, Masashi Nomura, Theresa Mohme, Akitake Mukasa, Jochen Herms, Shunsaku Takayanagi, Martin Mynarek, Reiko Matsuura, Katrin Lamszus, Kazuhiko Ishii, Lan Kluwe, Hideaki Imai, Andreas von Deimling, Tsukasa Koike, Martin Benesch, Yoshihiro Kushihara, Matija Snuderl, Shohei Nambu, Stephan Frank, Takaki Omura, Christian Hagel, Kazuha Kugasawa, Viktor F Mautner, Koichi Ichimura, Stefan Rutkowski, Hiroyuki Aburatani, Nobuhito Saito, Ulrich Schüller
Ependymomas encompass multiple clinically relevant tumor types based on localization and molecular profiles. Tumors of the methylation class "spinal ependymoma" (SP-EPN) represent the most common intramedullary neoplasms in children and adults. However, their developmental origin is ill-defined, molecular data are scarce, and the potential heterogeneity within SP-EPN remains unexplored. The only known recurrent genetic events in SP-EPN are loss of chromosome 22q and NF2 mutations, but neither types and frequency of these alterations nor their clinical relevance have been described in a large, epigenetically defined series...
January 24, 2024: Acta Neuropathologica
#18
JOURNAL ARTICLE
Malvina O Pietrzykowski, Ana-Maria Vranceanu, Eric A Macklin, Ryan A Mace
PURPOSE: This study aimed to estimate minimal clinically important difference (MCID) values for the World Health Organization Quality of Life Brief version (WHOQOL-BREF) among adults with neurofibromatosis (NF). An MCID is needed to demonstrate clinical meaningfulness of interventions for NF. METHODS: We estimated MCID for the WHOQOL-BREF: the quality of life (QoL) measure recommended by the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration...
January 12, 2024: Quality of Life Research
#19
JOURNAL ARTICLE
Vanessa L Merker, Heather L Thompson, Pamela L Wolters, Frank D Buono, Cynthia M Hingtgen, Tena Rosser, Belinda Barton, Carolina Barnett, Taylor Smith, Diana Haberkamp, Miranda L McManus, Andrea Baldwin, Irene P Moss, Claas Röhl, Staci Martin
BACKGROUND/AIMS: Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes...
December 23, 2023: Clinical Trials: Journal of the Society for Clinical Trials
#20
JOURNAL ARTICLE
Katherine E Wang, Ana-Maria Vranceanu, Ethan G Lester
The purpose of this study was to analyze secondary resiliency and user experience outcomes from a novel, 8-week website-based mind-body intervention (NF-Web) for adults (18+) with neurofibromatosis (NF1, NF2, and schwannomatosis), a genetic, neurocutaneous disorder characterized by nerve sheath tumors of the central and peripheral nervous system. The study design was a secondary data analysis of a single-arm, early feasibility pilot study (September 2020-May 2021) for adults with NF (N = 28). Across participants, the mean age was 46 (SD = 13...
2023: PloS One
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