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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/29682141/communicating-hydrocephalus-and-coexisting-nonenhancing-tumor-an-ominous-sign-for-patients-with-neurofibromatosis-type-1
#1
Ryo Miyahara, Satoshi Tsutsumi, Satoshi Adachi, Hisato Ishii, Akihide Kondo, Yukimasa Yasumoto
A 26-year-old woman with familial neurofibromatosis type 1 sustained headache that worsened for 1 month. Neuroimaging revealed a mild ventriculomegaly and nonenhancing lesion in the pons. In spite of repeated cerebrospinal fluid examinations and magnetic resonance imaging, the etiology was not determined. The affected pons markedly enlarged in the following 2 months, with extensive leptomeningeal dissemination. Biopsy through hemilaminectomy of the T9 was diagnosed as glioblastoma multiforme. Prompt histologic examination should be performed when patients with familial neurofibromatosis type 1 manifest communicating hydrocephalus coexistent with a nonenhancing tumor...
June 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29681099/2016-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-neurofibromatosis-type-2-and-schwannomatosis
#2
Michael J Fisher, Allan J Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E Ferner, Marco Giovannini, Gordon J Harris, Michel Kalamarides, Matthias A Karajannis, AeRang Kim, Conxi Lázaro, Lu Q Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry, Nicole J Ullrich, David Viskochil, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette Bakker, Eduard Serra
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29666462/tranilast-inhibits-the-expression-of-genes-related-to-epithelial-mesenchymal-transition-and-angiogenesis-in-neurofibromin-deficient-cells
#3
Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regulates the small GTPase Ras, with the constitutive activation of Ras signalling resulting from NF1 mutations being thought to underlie neurofibroma development. We previously showed that knockdown of neurofibromin triggers epithelial-mesenchymal transition (EMT) signalling and that such signalling is activated in NF1-associated neurofibromas...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#4
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/29655575/crmp2-neurofibromin-interface-drives-nf1-related-pain
#5
Aubin Moutal, Li Sun, Xiaofang Yang, Wennan Li, Song Cai, Shizhen Luo, Rajesh Khanna
An understudied symptom of the genetic disorder Neurofibromatosis type 1 (NF1) is chronic idiopathic pain. We used targeted editing of Nf1 in rats to provide direct evidence of a causal relationship between neurofibromin, the protein product of the Nf1 gene, and pain responses. Our study data identified a protein-interaction network with collapsin response meditator protein 2 (CRMP2) as a node and neurofibromin, syntaxin 1A, and the N-type voltage-gated calcium (CaV2.2) channel as interaction edges. Neurofibromin uncouples CRMP2 from syntaxin 1A...
April 12, 2018: Neuroscience
https://www.readbyqxmd.com/read/29649040/improvement-in-patient-reported-hearing-after-treatment-with-bevacizumab-in-people-with-neurofibromatosis-type-2
#6
Victoria Huang, Amanda L Bergner, Chris Halpin, Vanessa L Merker, Monica R Sheridan, Brigitte C Widemann, Jaishri O Blakeley, Scott R Plotkin
OBJECTIVE: Assess patient-reported outcomes (PRO) for hearing and tinnitus relative to clinical hearing assessment in people with neurofibromatosis 2 (NF2) associated hearing loss. STUDY DESIGN: Prospective, open label, phase-II clinical trial with PRO administered pre-, post-, and after treatment. SETTING: Three tertiary referral centers. PATIENTS: Fourteen patients with NF2, median age of 30 years (range, 14-79 yr) and progressive hearing loss (median baseline word recognition score, 60%; range, 13-82%)...
April 11, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29626191/lipid-binding-promotes-the-open-conformation-and-tumor-suppressive-activity-of-neurofibromin-2
#7
Krishna Chinthalapudi, Vinay Mandati, Jie Zheng, Andrew J Sharff, Gerard Bricogne, Patrick R Griffin, Joseph Kissil, Tina Izard
Neurofibromatosis type 2 (NF2) is a tumor-forming disease of the nervous system caused by deletion or by loss-of-function mutations in NF2, encoding the tumor suppressing protein neurofibromin 2 (also known as schwannomin or merlin). Neurofibromin 2 is a member of the ezrin, radixin, moesin (ERM) family of proteins regulating the cytoskeleton and cell signaling. The correlation of the tumor-suppressive function and conformation (open or closed) of neurofibromin 2 has been subject to much speculation, often based on extrapolation from other ERM proteins, and controversy...
April 6, 2018: Nature Communications
https://www.readbyqxmd.com/read/29623209/concurrent-primary-hyperparathyroidism-and-pheochromocytoma-in-a-chinese-lady-with-neurofibromatosis-type-1
#8
Cheuk-Lik Wong, Chun-Kit Fok, Vicki Ho-Kee Tam
We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29618358/clinical-and-molecular-characterization-of-112-single-center-patients-with-neurofibromatosis-type-1
#9
Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features...
April 4, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29599333/frequency-of-the-loss-of-heterozygosity-of-the-nf2-gene-in-sporadic-spinal-schwannomas
#10
Raimundo Miranda DE Carvalho, Carla DE Castro Sant' Anna, Giovanny Rebouças Pinto, Eric Homero Albuquerque Paschoal, Fabricio Mesquita Tuji, Barbara DO Nascimento Borges, Paulo Cardoso Soares, Alberto Gomes Ferreira Júnior, Juan Antonio Rey, Luiz Cláudio Lopes Chaves, Rommel Rodriguez Burbano
BACKGROUND/AIM: Individuals with type 2 Neurofibromatosis are predisposed for the appearance of schwannomas. In the present study we analyzed the loss of heterozygosity and mutations in the NF2 gene in patients with sporadic Schwannoma without Neurofibromatosis type 2. MATERIALS AND METHODS: We analyzed 39 patients with sporadic spinal schwannoma. We quantified the number of alleles by FISH and sequenced the NF2 gene. RESULTS: We identified 16/39 patients with point mutations and/or LOHs in the tumor samples analyzed...
April 2018: Anticancer Research
https://www.readbyqxmd.com/read/29587439/nf2-merlin-inactivation-and-potential-therapeutic-targets-in-mesothelioma
#11
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/29581693/large-solitary-plexiform-neurofibroma-of-the-penis-without-erectile-dysfunction-a-case-report-from-kerala
#12
Shanavas Cholakkal, Subhash V C, Gokul Nachiketh
Case Report: Solitary plexiform neurofibroma of the penis is an extremely rare peripheral nerve lesion with only about 20 cases reported all around the world. Here, we are reporting a case of solitary penile plexiform neurofibroma with sexual dysfunction due to difficulty in penetration. This 47-year-old gentleman presented with a swelling on the dorsal side of the penis. He was aware of the swelling for the last 15 years. The swelling was slow growing and there was no associated loss of sensation or sexual dysfunction...
February 2018: Indian Journal of Surgery
https://www.readbyqxmd.com/read/29573425/cochlear-implantation-and-auditory-brainstem-implantation-in-neurofibromatosis-type-2
#13
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
#14
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/29564143/gastric-schwannoma-a-rare-benign-mimic-of-gastrointestinal-stromal-tumor
#15
Tagore Sunkara, Eric Omar Then, Madhavi Reddy, Vinaya Gaduputi
Schwannomas most commonly manifest as acoustic neuromas in the vestibulo-cochlear nerve (CN VIII). These may occur unilaterally as primary tumors, or bilaterally secondary to neurofibromatosis type 2. More rarely, they present in extra-cranial sites, including the gastrointestinal tract. Gastrointestinal schwannomas are believed to arise from Auerbach's plexus in the muscularis propria, and are classified as mesenchymal tumors. Here, we report a rare case of a 49-year-old woman who had surgical resection of a gastric mass which was eventually diagnosed as gastric schwannoma...
March 2018: Oxford Medical Case Reports
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
#16
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/29557843/a-xenograft-model-of-vestibular-schwannoma-and-hearing-loss
#17
Christine T Dinh, Olena Bracho, Christine Mei, Esperanza Bas, Cristina Fernandez-Valle, Fred Telischi, Xue-Zhong Liu
HYPOTHESIS: Microsurgical implantation of mouse merlin-deficient Schwann cells (MD-SC) into the cerebellopontine angle of immunodeficient rats will initiate tumor formation, hearing loss, and vestibular dysfunction. BACKGROUND: The progress in identifying effective drug therapies for treatment of Neurofibromatosis type II (NF2) is limited by the availability of animal models of VS that develop hearing loss and imbalance. METHODS: A microsurgical technique for implanting MD-SCs onto the cochleovestibular nerve of rats was developed...
March 19, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29546707/generation-and-use-of-merlin-deficient-human-schwann-cells-for-a-high-throughput-chemical-genomics-screening-assay
#18
Alejandra M Petrilli, Cristina Fernández-Valle
Schwannomas are benign nerve tumors that occur sporadically in the general population and in those with neurofibromatosis type 2 (NF2), a tumor predisposition genetic disorder. NF2-associated schwannomas and most sporadic schwannomas are caused by inactivating mutations in Schwann cells in the neurofibromatosis type 2 gene (NF2) that encodes the merlin tumor suppressor. Despite their benign nature, schwannomas and especially vestibular schwannomas cause considerable morbidity. The primary available therapies are surgery or radiosurgery which usually lead to loss of function of the compromised nerve...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29535107/diagnosis-of-sporadic-neurofibromatosis-type-2-in-the-paediatric-population
#19
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/29534265/-retinal-astrocytic-hamartoma-in-neurofibromatosis-type-2-metaanalysis-and-a-case-report
#20
Daniela Aneta Starosta, Birgit Lorenz
BACKGROUND: Neurofibromatosis type 2 (NF2) is a genetic condition with an autosomal dominant pattern of inheritance and incomplete penetrance. It is characterized by multiple benign tumors of the central and peripheral nervous system including astrocytomas, ependymomas, meningeomas, and schwannomas, among which bilateral vestibular schwannomas are the most frequent. Among ocular manifestations of NF2, juvenile subcapsular cataract is the most common followed by epiretinal membranes and combined hamartomas of the retina and retinal pigment epithelium...
March 2018: Klinische Monatsblätter Für Augenheilkunde
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