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https://www.readbyqxmd.com/read/28993414/a-collaborative-model-for-accelerating-the-discovery-and-translation-of-cancer-therapies
#1
REVIEW
Ophélia Maertens, Mila E McCurrach, Benjamin S Braun, Thomas De Raedt, Inbal Epstein, Tannie Q Huang, Jennifer O Lauchle, Hyerim Lee, Jianqiang Wu, Timothy P Cripe, D Wade Clapp, Nancy Ratner, Kevin Shannon, Karen Cichowski
Preclinical studies using genetically engineered mouse models (GEMM) have the potential to expedite the development of effective new therapies; however, they are not routinely integrated into drug development pipelines. GEMMs may be particularly valuable for investigating treatments for less common cancers, which frequently lack alternative faithful models. Here, we describe a multicenter cooperative group that has successfully leveraged the expertise and resources from philanthropic foundations, academia, and industry to advance therapeutic discovery and translation using GEMMs as a preclinical platform...
October 9, 2017: Cancer Research
https://www.readbyqxmd.com/read/28980149/hemorrhagic-presentation-of-intracranial-pilocytic-astrocytomas-literature-review
#2
REVIEW
G Lakshmi Prasad, B N Nandeesh, Girish R Menon
Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these neoplasms. We hereby provide a detailed analysis on hemorrhagic pilocytic astrocytomas (HPA) in adults and report one such case managed at our institute. In addition, salient differences between adult and pediatric hemorrhagic PA have been briefed. Hospital records were retrieved for our case. Literature review was conducted by searching online databases for the following keywords-pilocytic astrocytoma, hemorrhage, cranial, pediatric, and adults...
October 4, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28973692/malignant-peripheral-nerve-sheath-tumors-are-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#3
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon R Freeman, Omar N Pathmanaban, Mark Kellett, Rupert Obholzer, Shazia Afridi, Patrick Axon, Dorothy Halliday, Allyson Parry, Owen M Thomas, Roger D Laitt, Martin G McCabe, Stavros Stivaros, Sara Erridge, D Gareth Evans
BACKGROUND: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. OBJECTIVE: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. METHODS: The prospective database consists of 1253 patients with NF2...
July 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28973691/high-grade-glioma-is-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#4
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon M Freeman, Omar N Pathmanaban, Monica Rodriguez-Valero, Owen M Thomas, Roger D Laitt, Stavros Stivaros, Mark Kellett, D Gareth Evans
BACKGROUND: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas. OBJECTIVE: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review. METHODS: The prospective database consists of 1253 patients with NF2. 1009 are known to be alive at last follow-up...
July 21, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28941532/optic-pathway-gliomas-secondary-to-neurofibromatosis-type-1
#5
Shannon Jeanine Beres, Robert A Avery
Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas-low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanisms driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging techniques are discussed.
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#6
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
September 20, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28919049/perioperative-outcomes-of-syndromic-paraganglioma-and-pheochromocytoma-resection-in-patients-with-von-hippel-lindau-disease-multiple-endocrine-neoplasia-type-2-or-neurofibromatosis-type-1
#7
James J Butz, Qi Yan, Travis J McKenzie, Toby N Weingarten, Alexandre N Cavalcante, Irina Bancos, William F Young, Darrell R Schroeder, David P Martin, Juraj Sprung
BACKGROUND: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. METHODS: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. RESULTS: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19)...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28911884/anti-vegf-treatment-improves-neurological-function-in-tumors-of-the-nervous-system
#8
REVIEW
Na Zhang, Jie Chen, Gino Ferraro, Limeng Wu, Meenal Datta, Rakesh K Jain, Scott R Plotkin, Anat Stemmer-Rachamimov, Lei Xu
Research of various diseases of the nervous system has shown that VEGF has direct neuroprotective effects in the central and peripheral nervous systems, and indirect effects on improving neuronal vessel perfusion which leads to nerve protection. In the tumors of the nervous system, VEGF plays a critical role in tumor angiogenesis and tumor progression. The effect of anti-VEGF treatment on nerve protection and function has been recently reported - by normalizing the tumor vasculature, anti-VEGF treatment is able to relieve nerve edema and deliver oxygen more efficiently into the nerve, thus reducing nerve damage and improving nerve function...
September 11, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28900754/surgery-versus-stereotactic-radiosurgery-for-the-treatment-of-multiple-meningiomas-in-neurofibromatosis-type-2-illustrative-case-and-systematic-review
#9
REVIEW
Thien Nguyen, Lawrance K Chung, John P Sheppard, Nikhilesh S Bhatt, Cheng Hao Jacky Chen, Carlito Lagman, Tania Kaprealian, Percy Lee, Phioanh L Nghiemphu, Isaac Yang
Neurofibromatosis type 2 (NF2) is a genetic neoplastic disorder that presents with hallmark bilateral vestibular schwannomas and multiple meningiomas. Though the current standard of care for meningiomas includes surgery, the multiplicity of meningiomas in NF2 patients renders complete resection of all developing lesions infeasible. Stereotactic radiosurgery (SRS) may be a viable non-invasive therapeutic alternative to surgery. We describe a particularly challenging case in a 39-year-old male with over 120 lesions who underwent more than 30 surgical procedures, and review the literature...
September 13, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28900340/primary-intraosseous-malignant-peripheral-nerve-sheath-tumor-of-metacarpal-bones-of-the-hand-in-a-patient-without-neurofibromatosis-1-report-of-a-rare-case
#10
Bharti Devnani, Ahitagni Biswas, Sameer Bakhshi, Shah Alam Khan, Asit Ranjan Mridha, Shipra Agarwal
Malignant peripheral nerve sheath tumor (MPNST) usually arises in peripheral nerve sheath cells. The intraosseous location of MPNST is rare. Mandible is the most common site of bony involvement. Involvement of bones of the hand is quite unusual. We report a case of MPNST involving metacarpal bones of the left hand treated with surgery followed by adjuvant radiation and chemotherapy and review the pertinent literature.
April 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28889717/-a-case-of-primary-schwannoma-of-the-urinary-bladder
#11
Yoshitaka Matsumoto, Natsui Waku, Koji Kawai, Atsushi Ikeda, Tomokazu Kimura, Ryutaro Ishitsuka, Takahiro Kojima, Takahiro Suetomi, Akira Joraku, Jun Miyazaki, Mai Sakashita, Hiroyuki Nishiyama
A 68-year-old woman presented with a bladder tumor. She was asymptomatic, and the tumor was incidentally detected with radiological imaging performed during treatment of cervical cancer. Magnetic resonance imaging and computed tomography revealed a solitary submucosal tumor located in the anterior wall of the urinary bladder, with homogeneous contrast enhancement. Cystoscopy showed a submucosal tumor covered by normal mucosa. A paraganglioma was considered in the differential diagnosis, but symptoms suggesting hypercatecholaminemia were not apparent...
August 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28882713/a-systematic-review-of-radiosurgery-versus-surgery-for-neurofibromatosis-type-2-vestibular-schwannomas
#12
REVIEW
Lawrance K Chung, Thien P Nguyen, John P Sheppard, Carlito Lagman, Stephen Tenn, Percy Lee, Tania Kaprealian, Robert Chin, Quinton Gopen, Isaac Yang
OBJECTIVE: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas (VS). NF2-associated VS (NF2-VS) are routinely treated with microsurgery; however, stereotactic radiosurgery (SRS) has emerged as an effective alternative in recent decades. To better elucidate the role of SRS in NF2-VS, a systematic review of the literature was conducted to compare outcomes of SRS versus surgery. METHODS: PubMed, Web of Science, Scopus, Embase, and Cochrane databases were queried using relevant search terms...
September 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28860858/increased-risk-of-breast-cancer-in-neurofibromatosis-type-1-current-insights
#13
REVIEW
Sacha J Howell, Kimberley Hockenhull, Zena Salih, D Gareth Evans
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by mutation/deletion of the NF1 gene. The gene product, neurofibromin, is a tumor suppressor which represses the activity of the Ras oncogene. Central nervous system (CNS) tumors have long been associated with NF1, but their association with several other malignancies has been demonstrated. In this review, we summarize the epidemiological data that irrefutably support a link between NF1 and an increased risk of early-onset breast cancer, to levels at which annual mammography is currently recommended in national high-risk screening programs...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28845518/neurodevelopmental-disorders-in-children-with-neurofibromatosis-type-1
#14
REVIEW
Alecia C Vogel, David H Gutmann, Stephanie M Morris
Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. In this review, we summarize the specific neurodevelopmental problems encountered in the context of NF1. These include impairments in general cognitive function, deficits in specific cognitive domains such as executive function and visuospatial processing and risk for specific learning disorders, impairments in attention and social skills and the overlap with attention-deficit-hyperactivity disorder and autism spectrum disorder, and the risk of developing other psychiatric conditions including anxiety and depression...
August 27, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28844094/optical-coherence-tomography-as-a-marker-of-vision-in-children-with-optic-pathway-gliomas
#15
REVIEW
Ana Banc, Cristina Stan, Ioan Stefan Florian
PURPOSE: Optic pathway gliomas (OPG) represent an important cause of visual loss in pediatric population. The indication of treatment is based on clinical or neuroimaging progression. Visual acuity loss is the most important symptom of disease progression, but children with OPG are frequently unable to complete the testing of visual function. Optical coherence tomography (OCT) was suggested as an objective tool for visual assessment. A literature review was performed in order to determine the role of retinal OCT as a surrogate marker of vision in children with OPG...
August 26, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28840075/vestibular-schwannoma-appears-to-be-very-rare-in-a-region-of-sub-saharan-africa
#16
S Ohaegbulam, O Okwunodulu, C Ndubuisi, W Mezue, M Chikani, S Nkwerem, M Ekuma
BACKGROUND: Vestibular schwannoma (VS) is a significant neurosurgical problem hence it enjoys a special attention at conferences and workshops. It accounts for about 8-10% of all intracranial tumors with an annual incidence of about 11-14 per million per year. Most VS are sporadic with 5-10% attributed to neurofibromatosis type 2 (NF2). However, VS is alleged to be rare in Africans and uncommon in African Americans, connoting a racial bias. To our knowledge, no study from sub-Saharan Africa has addressed this subject...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28820301/translabyrinthine-microsurgical-resection-of-small-vestibular-schwannomas
#17
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/28820281/isolated-cranio-orbitofacial-neurofibroma-mimicking-vascular-malformation
#18
Harinder S Chahal, Brandon Kuiper, Puneet S Braich, A Tyrone Glover
Isolated neurofibromas in the absence of systemic neurofibromatosis are known as solitary or localized neurofibromas. When present in the orbit, these lesions may appear clinically and radiographically similar to other tumors, complicating diagnosis and management. Key radiographic signs may guide clinicians to the correct diagnosis when the presentation and patient demographic data obfuscate the disease entity. We present a case of a large multi-lobulated neurofibroma misdiagnosed as a lymphangioma. A brief review of these tumors emphasizing key radiographic features is also included...
August 18, 2017: Orbit
https://www.readbyqxmd.com/read/28815922/the-pregnancy-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#19
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/28812461/soft-tissue-perineurioma-in-a-child-with-neurofibromatosis-type-1-a-case-report-and-review-of-the-literature
#20
Mudher Al-Adnani
Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. A subcutaneous, well circumscribed mass was removed. The cut surface was cream with a vaguely nodular appearance. Histology showed a spindle cell lesion with variable architecture and biphasic morphology. There was no nuclear atypia or pleomorphism...
September 2017: Pediatric and Developmental Pathology
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