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https://www.readbyqxmd.com/read/29667529/emerging-therapeutic-targets-for-neurofibromatosis-type-1
#1
James A Walker, Meena Upadhyaya
Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited tumor predisposition syndrome with an incidence of one in 3000-4000 individuals with no currently effective therapies. The NF1 gene on chromosome 17 encodes neurofibromin, which functions as a negative regulator of RAS. NF1 is a chronic multi-system disorder affecting many different tissues. Due to cell-specific complexities of RAS signaling, therapeutic approaches for NF1 will likely have to focus on a particular tissue and manifestation of the disease...
April 18, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#2
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29644913/possible-modifier-genes-in-the-variation-of-neurofibromatosis-type-1-clinical-phenotypes
#3
Parisa Sharafi, Sükriye Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype-phenotype correlations. Therefore, variations in NF1 mutations may not correlate with the variations in clinical phenotype. Indeed, for the same mutation, some NF1 patients may develop severe clinical symptoms whereas others will develop a mild phenotype...
April 12, 2018: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29587439/nf2-merlin-inactivation-and-potential-therapeutic-targets-in-mesothelioma
#4
REVIEW
Tatsuhiro Sato, Yoshitaka Sekido
The neurofibromatosis type 2 ( NF2 ) gene encodes merlin, a tumor suppressor protein frequently inactivated in schwannoma, meningioma, and malignant mesothelioma (MM). The sequence of merlin is similar to that of ezrin/radixin/moesin (ERM) proteins which crosslink actin with the plasma membrane, suggesting that merlin plays a role in transducing extracellular signals to the actin cytoskeleton. Merlin adopts a distinct closed conformation defined by specific intramolecular interactions and regulates diverse cellular events such as transcription, translation, ubiquitination, and miRNA biosynthesis, many of which are mediated through Hippo and mTOR signaling, which are known to be closely involved in cancer development...
March 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29573425/cochlear-implantation-and-auditory-brainstem-implantation-in-neurofibromatosis-type-2
#5
Kevin A Peng, Mark B Lorenz, Steven R Otto, Derald E Brackmann, Eric P Wilkinson
OBJECTIVES/HYPOTHESIS: To report a series of patients with neurofibromatosis type 2 (NF2), where each patient underwent both cochlear implantation and auditory brainstem implantation for hearing rehabilitation, and to discuss factors influencing respective implant success. STUDY DESIGN: Retrospective case series. METHODS: Ten NF2 patients with both cochlear implantations and auditory brainstem implantations were retrospectively reviewed. Speech testing for auditory brainstem implants (ABIs) and cochlear implants (CIs) was performed separately...
March 24, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29566708/seizures-in-children-with-neurofibromatosis-type-1-is-neurofibromatosis-type-1-enough
#6
Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio, Silverio Perrotta
BACKGROUND: Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures. METHODS: The medical records of 437 children (0-18 years old) with NF1 were reviewed. All children with at least one afebrile seizure were included...
March 22, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29558230/first-report-of-the-efficacy-of-vestibular-rehabilitation-in-improving-function-in-patients-with-neurofibromatosis-type-2-an-observational-cohort-study-in-a-clinical-setting
#7
Beatrice Emmanouil, Katherine Browne, Dorothy Halliday, Allyson Parry
PURPOSE: Patients with Neurofibromatosis type 2 often experience debilitating neuro-otological problems which affect their mobility and balance. This study examined the efficacy of a personalised program of vestibular rehabilitation for patients with Neurofibromatosis type 2. MATERIALS AND METHODS: An observational cohort study analysing routinely collected data for 21 patients in a highly specialised Neurofibromatosis type 2 service. Vestibular rehabilitation comprised an initial one-hour assessment followed by a patient-specific exercise program reviewed in person and by email consultations...
March 20, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29548054/neurofibromatosis-and-schwannomatosis
#8
Scott R Plotkin, Antje Wick
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed...
February 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29541566/surgical-interventions-for-advanced-parameningeal-rhabdomyosarcoma-of-children-and-adolescents
#9
REVIEW
Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz
Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma...
January 9, 2018: Curēus
https://www.readbyqxmd.com/read/29535107/diagnosis-of-sporadic-neurofibromatosis-type-2-in-the-paediatric-population
#10
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29527399/nursing-review-of-spinal-meningiomas
#11
REVIEW
Nancy E Epstein
Background: Spinal meningiomas are found in patients typically between the ages of 75 and 84: some report the average age to be 50. They occur with an incidence of approximately 1000 patients per year in the US, are mostly single (90%) rather than multiple (10%), and arise from the spinal meninges (arachnoid/dura). Tumors are typically posterior/posterolateral (70%) in location, leaving the remaining 30% in the anterior/anterolateral spinal canal. They produce symptoms and signs of radiculopathy (nerve root) and/or myelopathy (cord compression) depending on their site of origin...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29520415/recurrent-multiple-neurofibromatosis-type-1-of-the-right-lower-limb
#12
Leitao Huang, Xia Wu, Yi Ding, Lai Qi, Wei Li, Gendong Huang, Min Dai, Bin Zhang
Neurofibromatosis type 1 is an autosomal dominant inherited disease, which is characterized by the presence of multiple neurofibromas. We encountered a case in which a sporadic dispersed neurofibroma recurred locally on numerous occasions extending over 16 years. The patient developed multiple masses with a focus of neurofibroma on the right lower limb, which were excised. The patient was initially diagnosed with inflammatory changes via computed tomography and magnetic resonance imaging; however, subsequently, pathological and immunohistochemical examinations revealed an intraneural neurofibroma...
March 8, 2018: Der Orthopäde
https://www.readbyqxmd.com/read/29518229/case-report-metastasis-of-a-trigeminal-malignant-peripheral-nerve-sheath-tumor-to-the-corpus-callosum
#13
Max Shutran, David Mosbach, Zachary Tataryn, Knarik Arkun, Julian K Wu
BACKGROUND AND IMPORTANCE: Malignant peripheral nerve sheath tumors (MPNST) are relatively rare tumors of peripheral nerves that are notable for their locally aggressive nature, ability to metastasize, poor prognosis, and association with Neurofibromatosis type I. We present the case of a patient with a trigeminal nerve MPNST who developed an unusual metastasis to the corpus callosum, in the absence of any other central nervous system or systemic metastatic disease. We review the pathology and presentation of MPNST...
March 5, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29514154/bladder-dysfunction-in-children-with-neurofibromatosis-type-i-report-of-four-cases-and-review-of-the-literature
#14
Aurore Bouty, Eric Dobremez, Luke Harper, Jérôme Harambat, Cécile Bouteiller, Brigitte Zaghet, Pierre Wolkenstein, Stéphane Ducassou, Yan Lefevre
AIM: Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder. Malignant transformation into malignant peripheral nerve sheath tumors (MPNST) can occur. However, urinary tract involvement is rare. We report 4 cases of NF1 with bladder dysfunction. METHODS: A retrospective single center analysis of 4 patients was conducted over a 17-year period, focusing on urinary tract involvement. RESULTS: NF1 was diagnosed at a median of 16...
March 7, 2018: Urologia Internationalis
https://www.readbyqxmd.com/read/29504040/incomplete-and-false-tract-insertions-in-cochlear-implantation-retrospective-review-of-surgical-and-auditory-outcomes
#15
Ashish Vashishth, Andrea Fulcheri, Maurizio Guida, Antonio Caruso, Mario Sanna
OBJECTIVES: To evaluate incidence, demographics, surgical, and radiological correlates of incomplete and false tract electrode array insertions during cochlear implantation (CI). To evaluate outcomes in patients with incomplete electrode insertion (IEI). STUDY DESIGN: Retrospective analysis. SETTING: Otology and skull base center. PATIENTS AND METHODS: Charts of 18 patients (19 ears) with incomplete or false tract insertions of the electrode array were evaluated who underwent CI, with at least 1 year follow-up (from 470 cases)...
March 5, 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29496081/the-endovascular-management-of-neurofibromatosis-associated-aneurysms-a-systematic-review
#16
David Bargiela, Misha M Verkerk, Ian Wee, Kiera Welman, Eugene Ng, Andrew M T L Choong
BACKGROUND: Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture. METHOD: A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases...
March 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29475609/moya-moya-syndrome-after-cranial-radiation-for-optic-glioma-with-nf1-case-report-and-literature-review-of-syndromic-cases
#17
P Brandicourt, L Bonnet, Y Béjot, C Drouet, T Moulin, L Thines
INTRODUCTION: Moya-Moya angiopathy is a neurovascular disease that predisposes to ischemic or hemorrhagic strokes. It is generated by a steno-occlusion of the terminal portion of the internal carotid arteries, which induces the development of abnormal neovessels in the deep regions of the brain. Some pathologies such as sickle cell disease, Down syndrome or Graves' disease may be associated with Moya-Moya angiopathy. These syndromic forms harbor several differences compared with idiopathic Moya-Moya disease...
March 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29455398/mr-imaging-of-neoplastic-and-non-neoplastic-lesions-of-the-brain-and-spine-in-neurofibromatosis-type-i
#18
Ahmed Abdel Khalek Abdel Razek
The aim of this work is to review the MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neoplastic lesions are optic pathway gliomas, brain stem gliomas, other gliomas of the brain, and peripheral nerve sheath tumors. Structural changes in the brain include unidentified bright objects, macrocephaly, and enlarged corpus callosum. Bony dysplasia changes as sphenoid ridge dysplasia, spinal scalloping, dural ectasia, and meningoceles. Vasculopathy and cortical cerebral and cerebellar malformations of the brain have been reported...
February 17, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29450403/iris-juvenile-xanthogranuloma-in-an-infant-spontaneous-hyphema-and-secondary-glaucoma
#19
Anca Pantalon, Tudor Ștefănache, Mihai Danciu, Sabina Zurac, Dorin Chiseliță
Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. The aim of the present case report was to demonstrate typical clinical features, emphasize the difficulties attributed when managing these patients and literature review...
July 2017: Romanian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29444793/isolated-bladder-schwannoma-a-rare-presentation
#20
Samer Jallad, Samir Ghani, Mohammad Ali Omar, Hanif Motiwala
Bladder schwannoma is a rare tumour arising from Schwann cells in nerve sheaths. It is usually more common in patients diagnosed with neurofibromatosis. However, isolated cases of urinary bladder schwannoma is incredibly rare, attributing to <0.1% of bladder tumours. A literature review and analysis revealed that it presents in adulthood, is mostly symptomatic and diagnosis is established histologically. We report a case of isolated bladder schwannoma in 25 year-old female who presented with dyspareunia.
February 14, 2018: BMJ Case Reports
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