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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/28820301/translabyrinthine-microsurgical-resection-of-small-vestibular-schwannomas
#1
Marc S Schwartz, Gregory P Lekovic, Mia E Miller, William H Slattery, Eric P Wilkinson
OBJECTIVE Translabyrinthine resection is one of a number of treatment options available to patients with vestibular schwannomas. Though this procedure is hearing destructive, the authors have noted excellent clinical outcomes for patients with small tumors. The authors review their experience at a tertiary acoustic neuroma referral center in using the translabyrinthine approach to resect small vestibular schwannomas. All operations were performed by a surgical team consisting of a single neurosurgeon and 1 of 7 neurotologists...
August 18, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28815922/the-pregnancy-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#2
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Susanna Timonen, Juha Peltonen, Sirkku Peltonen
The objective of this retrospective total population study was to form a view of the pregnancies of the patients with neurofibromatosis type 1 (NF1). A cohort of 1,410 Finnish patients with NF1 was acquired by searching NF1-related inpatient and outpatient hospital visits and confirming the diagnoses by reviewing the medical records. Ten matched control persons per patient with NF1 were collected from Population Register Centre. Study persons were linked to data from Medical Birth Register and Care Register for Health Care through the personal identity code...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814319/constipation-in-adults-with-neurofibromatosis-type-1
#3
Cecilie Ejerskov, Klaus Krogh, John R Ostergaard, Janne L Fassov, Annette Haagerup
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Patients with NF1 were recruited from one of two Danish National Centres of Expertise for NF1 and their unaffected relatives were invited to participate as controls...
August 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28809766/crispr-cas9-editing-of-nf1-gene-identifies-crmp2-as-a-therapeutic-target-in-neurofibromatosis-type-1-nf1-related-pain-that-is-reversed-by-s-lacosamide
#4
Aubin Moutal, Xiaofang Yang, Wennan Li, Kerry B Gilbraith, Shizhen Luo, Song Cai, Liberty François-Moutal, Lindsey A Chew, Seul Ki Yeon, Shreya S Bellampalli, Chaoling Qu, Jennifer Y Xie, Mohab M Ibrahim, May Khanna, Ki Duk Park, Frank Porreca, Rajesh Khanna
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. NF1 patients commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in identifying sensitization of ion channels as a possible cause underlying the heightened pain suffered by NF1 patients. However, behavioral assessments of Nf1+/- mice have led to uncertain conclusions about the potential causal role of Nf1 in pain. We used the clustered regularly interspaced short palindromic repeats/(CRISPR)-associated 9 (CRISPR/Cas9) genome editing system to create and mechanistically characterize a novel rat model of NF1-related pain...
July 3, 2017: Pain
https://www.readbyqxmd.com/read/28808608/intrathecal-catheter-associated-inflammatory-mass-in-a-neurofibromatosis-type-1-patient-receiving-fentanyl-and-bupivacaine
#5
Derek G Southwell, Joseph A Osorio, Christopher S Liverman, Lauren M Friedman, Ramana K Naidu, Lawrence R Poree, Melanie M Henry, Line Jacques
BACKGROUND: Catheter-associated inflammatory masses (CIMs) are a rare but serious complication of intrathecal drug delivery devices. CIM formation is influenced by local medication concentration, which is determined in part by flow dynamics at the catheter tip. Underlying spinal pathologies, such as neoplasms, may alter flow at the catheter tip, thereby contributing to CIM formation. Moreover, they may also complicate the clinical and radiologic diagnosis of a CIM. CASE DESCRIPTION: A 36-year-old man with neurofibromatosis type 1 presented to our emergency department with complaints of increased back pain and leg weakness...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28806327/long-term-quality-of-life-following-vestibular-schwannoma-excision-via-the-translabyrinthine-approach
#6
Stephen J Broomfield, Ashish K Mandavia, Jack S Nicholson, Osama Mahmoud, Andrew T King, Scott A Rutherford, Richard T Ramsden
OBJECTIVE: To assess postoperative quality of life (QOL) and other patient-reported outcomes following surgery for vestibular schwannoma. STUDY DESIGN: Cross-sectional retrospective case review using postal questionnaires. SETTING: Tertiary referral center. PATIENTS: Five hundred consecutive patients undergoing surgery for vestibular schwannoma. INTERVENTION(S): Patients undergoing surgery via the translabyrinthine approach (excluding neurofibromatosis type 2) under the senior author, with a minimum of 5 years follow-up, were included...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28799319/ataxia-in-a-young-female
#7
R Jayanthi, K Monica, K Raja, C S Gauthaman, P P Arunkumar
Neurofibromatosis type 2 (NF2) is a genetically inherited disorder characterized by the presence of multiple central nervous system tumours, most pathognomonic being bilateral vestibular schwannomas with or without peripheral manifestations in the form of cataract or cutaneous neurofibromas. NF2 is an uncommon disorder compared to NF1. We describe a classical case of neurofibromatosis type 2 with florid clinical manifestations and characteristic neuroimaging features. We also briefly describe the literature pertaining to this rare disorder...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28798249/sight-preserving-orbital-decompression-a-novel-multidisciplinary-approach-to-managing-severe-proptosis-in-neurofibromatosis-type-2
#8
George Henry Lafford, Simon James Eccles, Jahrad Haq, Nara Orban
We describe the importance of collaboration between multiple surgical specialties in managing a complex case of sight-threatening severe proptosis in a young woman with type 2 neurofibromatosis (NF2) complicated by pre-existing contralateral blindness. Trans-nasal and lateral orbital surgical approaches were aided by stereotactic navigation to debulk a large frontal/sphenoid wing meningioma, which had been exerting pressure onto the right globe and optic nerve. The patient made an excellent postoperative recovery along with preserved residual visual acuity, normal neurology and a good aesthetic outcome...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28798215/spinal-and-paraspinal-plexiform-neurofibromas-in-patients-with-neurofibromatosis-type-1-a-novel-scoring-system-for-radiological-clinical-correlation
#9
M Mauda-Havakuk, B Shofty, S Ben-Shachar, L Ben-Sira, S Constantini, F Bokstein
BACKGROUND AND PURPOSE: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome. MATERIALS AND METHODS: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Longitudinal clinical evaluation included pain and neurologic deficits...
August 10, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28796925/neurological-comorbidity-in-children-with-neurofibromatosis-type-1
#10
Keiko Hirabaru, Muneaki Matsuo
OBJECTIVE: To determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1). METHODS: We performed a nationwide survey to investigate neurological comorbidities in 3-15-year-old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit hyperactivity disorder (ADHD)-Rating Scale (RS), and the Social Responsiveness Scale -2...
August 10, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28781128/six-cases-of-sporadic-schwannomatosis-topographic-distribution-and-outcomes-of-peripheral-nerve-tumors
#11
G Chick, J Victor, N Hollevoet
The diagnosis of schwannomatosis is often overestimated and is based on the existence of multiple peripheral nerve tumors composed exclusively of schwannomas, in the absence of clinical signs of neurofibromatosis type 2 (NF2). Sporadic forms are much more frequent than familial forms. The objective of this study was to describe the distribution of peripheral nerve tumors and investigate the outcomes of schwannomas in the context of sporadic schwannomatosis. We conducted a retrospective study of patients who fulfilled clinical diagnostic criteria for sporadic schwannomatosis...
August 3, 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28776579/significance-of-h3k27me3-loss-in-the-diagnosis-of-malignant-peripheral-nerve-sheath-tumors
#12
Melike Pekmezci, Areli K Cuevas-Ocampo, Arie Perry, Andrew E Horvai
The diagnosis of malignant peripheral nerve sheath tumors can be challenging and other spindle cell sarcomas commonly enter in the differential diagnosis. Loss of trimethylation at lysine 27 of histone-H3 (H3K27me3) by immunohistochemistry was recently described in malignant peripheral nerve sheath tumors. However, its specificity remains controversial. We therefore studied 82 synovial sarcomas, 39 malignant peripheral nerve sheath tumors, and 10 fibrosarcomatous dermatofibrosarcoma protuberans for H3K27me3 loss by immunohistochemistry...
August 4, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28776093/identification-of-an-atypical-microdeletion-generating-the-rnf135-suz12-chimeric-gene-and-causing-a-position-effect-in-an-nf1-patient-with-overgrowth
#13
Luca Ferrari, Giulietta Scuvera, Arianna Tucci, Donatella Bianchessi, Francesco Rusconi, Francesca Menni, Elena Battaglioli, Donatella Milani, Paola Riva
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. The patient showed overgrowth, café au lait spots, inguinal freckling, and neurological abnormalities...
August 3, 2017: Human Genetics
https://www.readbyqxmd.com/read/28775147/combination-therapy-with-c-met-and-src-inhibitors-induces-caspase-dependent-apoptosis-of-merlin-deficient-schwann-cells-and-suppresses-growth-of-schwannoma-cells
#14
Marisa A Fuse, Stephani Klingeman Plati, Sarah S Burns, Christine T Dinh, Olena Bracho, Denise Yan, Rahul Mittal, Rulong Shen, Julia N Soulakova, Alicja J Copik, Xue Zhong Liu, Fred F Telischi, Long-Sheng Chang, Maria Clara Franco, Cristina Fernandez-Valle
Neurofibromatosis type 2 (NF2) is a nervous system tumor disorder caused by inactivation of the merlin tumor suppressor encoded by the NF2 gene. Bilateral vestibular schwannomas (VS) are a diagnostic hallmark of NF2. Mainstream treatment options for NF2-associated tumors have been limited to surgery and radiotherapy; however, off-label uses of targeted molecular therapies are becoming increasingly common. Here we investigated drugs targeting two kinases activated in NF2-associated schwannomas, c-Met and Src...
August 3, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28771999/monitoring-of-plexiform-neurofibroma-in-children-and-adolescents-with-neurofibromatosis-type-1-by-18-f-fdg-pet-imaging-is-it-of-value-in-asymptomatic-patients
#15
Amedeo A Azizi, Irene Slavc, Benjamin Emile Theisen, Ivo Rausch, Michael Weber, Wolfgang Happak, Oskar Aszmann, Azadeh Hojreh, Andreas Peyrl, Gabriele Amann, Thomas M Benkoe, Wolfgang Wadsak, Gregor Kasprian, Anton Staudenherz, Marcus Hacker, Tatjana Traub-Weidinger
PURPOSE: About 10% of patients with neurofibromatosis type 1 (NF-1) develop malignant peripheral nerve sheath tumours (MPNST) mostly arising in plexiform neurofibroma (PN); 15% of MPNST arise in children and adolescents. 2-[(18) F]fluoro-2-deoxy-d-glucose ([(18) F]FDG)-PET (where PET is positron emission tomography) is a sensitive method in differentiating PN and MPNST in symptomatic patients with NF-1. This study assesses the value of [(18) F]FDG-PET imaging in detecting malignant transformation in symptomatic and asymptomatic children with PN...
August 3, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28767512/dissecting-the-role-of-the-crmp2-neurofibromin-complex-on-pain-behaviors
#16
Aubin Moutal, Yue Wang, Xiaofang Yang, Yingshi Ji, Shizhen Luo, Angie Dorame, Shreya S Bellampalli, Lindsey A Chew, Song Cai, Erik T Dustrude, James E Keener, Michael T Marty, Todd W Vanderah, Rajesh Khanna
Neurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or homozygous deletion of the Nf1 gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain. Omic studies on human NF1 tissues identified an increase in expression of collapsin response mediator protein 2 (CRMP2), a cytosolic protein reported to regulate the trafficking and activity of presynaptic N-type voltage-gated calcium (Cav2.2) channels. Since neurofibromin, the protein product of the Nf1 gene, binds to and inhibits CRMP2, the neurofibromin-CRMP2 signaling cascade will likely affect Ca2+ channel activity and regulate nociceptive neurotransmission and in vivo responses to noxious stimulation...
July 31, 2017: Pain
https://www.readbyqxmd.com/read/28767180/improved-union-and-bone-strength-in-a-mouse-model-of-nf1-pseudarthrosis-treated-with-recombinant-human-bone-morphogenetic-protein-2-and-zoledronic-acid
#17
Nikita Deo, Tegan L Cheng, Kathy Mikulec, Lauren Peacock, David G Little, Aaron Schindeler
Tibial pseudarthrosis associated with Neurofibromatosis type 1 (NF1) is an orthopedic condition with consistently poor clinical outcomes. Using a murine model that features localized double inactivation of the Nf1 gene in an experimental tibial fracture, we tested the effects of recombinant human bone morphogenetic protein-2 (rhBMP-2) and/or the bisphosphonate zoledronic acid (ZA). Tibiae were harvested at 3 weeks for analysis, at which time there was negligible healing in un-treated control fractures (7% union)...
August 2, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28764788/regulation-of-human-glioma-cell-apoptosis-and-invasion-by-mir-152-3p-through-targeting-dnmt1-and-regulating-nf2-mir-152-3p-regulate-glioma-cell-apoptosis-and-invasion
#18
Jin Sun, Xinhua Tian, Junqing Zhang, Yanlin Huang, Xiaoning Lin, Luyue Chen, Shizhong Zhang
BACKGROUND: MiRNAs are involved in aberrant DNA methylation through regulation of DNA methyltransferases (DNMTs) in the pathogenesis and progression of glioblastomas (GBM). MiR-152-3p was down-expressed in human malignancies, and served as a tumor suppressor. Neurofibromatosis type 2 (NF2) was significantly decreased in GBM tissues with a high level of methylation. However, the link between miR-152-3p, DNMT1 and methylation of NF2 in GBM is not clearly established. This study was conducted to detect the mechanism between miR-152-3p, DNMT1 and NF2 in GBM...
August 1, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28759666/association-of-genetic-predisposition-with-solitary-schwannoma-or-meningioma-in-children-and-young-adults
#19
Omar N Pathmanaban, Katherine V Sadler, Ian D Kamaly-Asl, Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Martin G McCabe, John-Paul Kilday, Christian Beetz, Nicola K Poplawski, D Gareth Evans, Miriam J Smith
Importance: Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years and are rare in children and young adults. Multiple schwannomas and/or meningiomas are more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not. Nevertheless, apparently sporadic tumors in young patients may herald a genetic syndrome. Objective: To determine the frequency of the known heritable meningioma- or schwannoma-predisposing mutations in children and young adults presenting with a solitary meningioma or schwannoma...
July 31, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28753092/effect-of-higher-implant-density-on-curve-correction-in-dystrophic-thoracic-scoliosis-secondary-to-neurofibromatosis-type-1
#20
Yang Li, Xinxin Yuan, Shifu Sha, Zhen Liu, Weiguo Zhu, Yong Qiu, Bin Wang, Yang Yu, Zezhang Zhu
OBJECTIVE The aim of this study was to investigate how implant density affects radiographic results and clinical outcomes in patients with dystrophic scoliosis secondary to neurofibromatosis Type 1 (NF1). METHODS A total of 41 patients with dystrophic scoliosis secondary to NF1 who underwent 1-stage posterior correction between June 2011 and December 2013 were included. General information about patients was recorded, as were preoperative and postoperative scores from Scoliosis Research Society (SRS)-22 questionnaires...
July 28, 2017: Journal of Neurosurgery. Pediatrics
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