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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/29455242/heightened-cxcr4-and-cxcl12-expression-in-nf1-associated-neurofibromas
#1
Beren Karaosmanoglu, Çetin Y Kocaefe, Figen Söylemezoğlu, Banu Anlar, Ali Varan, İbrahim Vargel, Sükriye Ayter
BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder that affects both the skin and the nervous system. NF1 occurs due to the mutations in the NF1 gene. Neurofibromas are the most common Schwann cell-based tumors in NF1 patients, which are mainly categorized into dermal and plexiform neurofibromas. Studies on different tumor types demonstrate that CXCR4 expression increases in tumor tissues and is linked to metastasis and cancer progression. PURPOSE: In the present study, we aimed to analyze the gene expression of CXCR4, and its ligand CXCL12, in human neurofibromas...
February 17, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29449315/metaplastic-breast-cancer-in-a-patient-with-neurofibromatosis-type-1-and-somatic-loss-of-heterozygosity
#2
Lorena Suarez-Kelly, Keiko Akagi, Julie W Reeser, Eric Samorodnitsky, Matthew Reeder, Amy Smith, Sameek Roychowdhury, David E Symer, William E Carson
Metaplastic breast carcinoma (MBC) is rare and has a poor prognosis. Here we describe genetic analysis of a 41-year-old female patient with MBC and neurofibromatosis type I (NF1). She initially presented with pT3N1a, grade 3 MBC, but lung metastases were discovered subsequently. To identify the molecular cause of her NF1, we screened for germline mutations disrupting NF1 or SPRED1, revealing a heterozygous germline single nucleotide variant (SNV) in exon 21 of NF1 at c.2709G>A, chr17: 29556342. By report, this variant disrupts pre-mRNA splicing of NF1 transcripts...
February 15, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#3
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29435207/supernumerary-molars-and-wisdom-tooth-shape-alterations-in-patients-with-neurofibromatosis-type-1
#4
Reinhard E Friedrich, Anika Reul
Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients. Material and Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls...
October 2017: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#5
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29427150/programmed-death-ligand-1-expression-and-tumor-infiltrating-lymphocytes-in-neurofibromatosis-type-1-and-2-associated-tumors
#6
Shiyang Wang, Benjamin Liechty, Seema Patel, Jeffrey S Weber, Travis J Hollmann, Matija Snuderl, Matthias A Karajannis
Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. We performed immunohistochemistry for PD-L1 (clones SP142 and E1L3N), CD3, CD20, CD8, and CD68 in NF1-related tumors (ten dermal and six plexiform neurofibromas) and NF2-related tumors (ten meningiomas and ten schwannomas) using archival formalin-fixed paraffin-embedded tissues...
February 9, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29426343/differences-in-mwcnt-and-swcnt-induced-dna-methylation-alterations-in-association-with-the-nuclear-deposition
#7
Deniz Öner, Manosij Ghosh, Hannelore Bové, Matthieu Moisse, Bram Boeckx, Radu C Duca, Katrien Poels, Katrien Luyts, Eveline Putzeys, Kirsten Van Landuydt, Jeroen Aj Vanoirbeek, Marcel Ameloot, Diether Lambrechts, Lode Godderis, Peter Hm Hoet
BACKGROUND: Subtle DNA methylation alterations mediated by carbon nanotubes (CNTs) exposure might contribute to pathogenesis and disease susceptibility. It is known that both multi-walled carbon nanotubes (MWCNTs) and single-walled carbon nanotubes (SWCNTs) interact with nucleus. Such, nuclear-CNT interaction may affect the DNA methylation effects. In order to understand the epigenetic toxicity, in particular DNA methylation alterations, of SWCNTs and short MWCNTs, we performed global/genome-wide, gene-specific DNA methylation and RNA-expression analyses after exposing human bronchial epithelial cells (16HBE14o- cell line)...
February 9, 2018: Particle and Fibre Toxicology
https://www.readbyqxmd.com/read/29416648/chemopreventative-celecoxib-fails-to-prevent-schwannoma-formation-or-sensorineural-hearing-loss-in-genetically-engineered-murine-model-of-neurofibromatosis-type-2
#8
Benjamin M Wahle, Eric T Hawley, Yongzheng He, Abbi E Smith, Jin Yuan, Andi R Masters, David R Jones, Jeffrey R Gehlhausen, Su-Jung Park, Simon J Conway, D Wade Clapp, Charles W Yates
Mutations in the tumor suppressor gene NF2 lead to Neurofibromatosis type 2 (NF2), a tumor predisposition syndrome characterized by the development of schwannomas, including bilateral vestibular schwannomas with complete penetrance. Recent work has implicated the importance of COX-2 in schwannoma growth. Using a genetically engineered murine model of NF2, we demonstrate that selective inhibition of COX-2 with celecoxib fails to prevent the spontaneous development of schwannomas or sensorineural hearing loss in vivo, despite elevated expression levels of COX-2 in Nf2-deficient tumor tissue...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29409008/targeted-next-generation-sequencing-for-differential-diagnosis-of-neurofibromatosis-type-2-schwannomatosis-and-meningiomatosis
#9
Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait
Background: Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis. Methods: We present the targeted next generation sequencing (NGS) of NF2, SMARCB1, LZTR1, SMARCE1, and SUFU tumor suppressor genes, using an amplicon-based approach. We analyzed blood DNA from a cohort of 196 patients, including patients with: NF2 (N=79), schwannomatosis (N=40), meningiomatosis (N=12), and no clearly established diagnosis (N=65)...
February 2, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29408605/nf2-mutation-in-schwann-cells-delays-functional-neural-recovery-following-injury
#10
Kristy Truong, Iram Ahmad, J Jason Clark, Alison Seline, Tyler Bertroche, Brian Mostaert, Douglas J Van Daele, Marlan R Hansen
Merlin is the protein product of the NF2 tumor suppressor gene. Germline NF2 mutation leads to neurofibromatosis type 2 (NF2), characterized by multiple intracranial and spinal schwannomas. Patients with NF2 also frequently develop peripheral neuropathies. While the role of merlin in SC neoplasia is well established, its role in SC homeostasis is less defined. Here we explore the role of merlin in SC responses to nerve injury and their ability to support axon regeneration. We performed sciatic nerve crush in wild type (WT) and in P0SchΔ39-121 transgenic mice that express a dominant negative Nf2 isoform in SCs...
February 3, 2018: Neuroscience
https://www.readbyqxmd.com/read/29398874/intraductal-papillary-bile-duct-adenocarcinoma-and-gastrointestinal-stromal-tumor-in-a-case-of-neurofibromatosis-type-1
#11
Jung Min Lee, Jae Min Lee, Jong Jin Hyun, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yoon Tae Jeen, Hoon Jai Chun, Hong Sik Lee, Chang Duck Kim, Dong Sik Kim, Joo Young Kim
We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 (NF-1). A 72-year-old woman presented with a 2-mo history of right upper abdominal pain unrelated to diet and indigestion. Fourteen years earlier, she had been diagnosed with NF-1, which manifested as café au lait spots and multiple nodules on the skin. Computed tomography (CT) revealed a multilocular low-density mass with septation, and mural nodules in the right hepatic lobe, as well as a 1...
January 28, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29398196/monitoring-of-optic-nerve-function-in-neurofibromatosis-2-children-with-optic-nerve-sheath-meningiomas-using-multifocal-visual-evoked-potentials
#12
V Jayanetti, A I Klistorner, S L Graham, M Dexter, M P Flaherty, K Jones, F A Billson, M Wilson, K North, J R Grigg, C L Fraser
Monitoring optic nerve sheath meningiomas (ONSM) in Neurofibromatosis type 2 (NF2) patients remains difficult. Other ocular manifestations of NF2 may obscure ophthalmic assessment of optic nerve function in these patients. Serial magnetic resonance imaging (MRI) used to assess the optic nerve is not without limitations, being expensive and often requiring general anaesthetic in children, with associated risks. This study was undertaken to describe the use of multifocal visual evoked potentials (multifocal VEP, mfVEP) in the regular monitoring of NF2 patients with ONSM...
February 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29393688/systematic-review-of-high-level-mobility-training-in-people-with-a-neurological-impairment
#13
Tanja Spencer, Sara Aldous, Gavin Williams, Michael Fahey
AIM: The objective of this paper was to systematically review the efficacy of interventions targeting high-level mobility skills in people with a neurological impairment. METHODS: A comprehensive electronic database search was conducted. Study designs were graded using the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM) system and methodological quality was described using the Physiotherapy Evidence Database (PEDro) scale. RESULTS: Twelve exploratory studies (AACPDM levels IV/V), of limited methodological quality (PEDro scores of 2-3 out of 10), were included...
February 2, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#14
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century "Buffon's Histoire Naturelle" and "Cruveilhier's Anatomie Pathologique du Corps Human"...
February 1, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29383545/children-s-at-home-pilot-study-assessing-dedicated-social-media-for-parents-of-adolescents-with-neurofibromatosis-type-1
#15
Christina Akre, Julie Polvinen, Nicole J Ullrich, Michael Rich
The aim of this pilot study was to evaluate Children's at Home (C@H), a dedicated social media website for parents of adolescents with neurofibromatosis type 1 (NF1). The interventional study included two phases: (1) creating video intervention/prevention assessment (VIA) visual narratives about having an adolescent with NF1 and (2) interacting on C@H, a secure, medically moderated social media website. C@H was evaluated qualitatively at three time points. At enrollment (T0, N = 17), participants reported needing C@H to break their isolation, connect with other families, and receive accurate information, advice, and support from others facing similar challenges...
January 30, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29368950/high-concentration-topical-capsaicin-in-the-management-of-refractory-neuropathic-pain-in-patients-with-neurofibromatosis-type-1-a-case-series
#16
P Bardo-Brouard, C Luizard, L Valeyrie-Allanore, C Goujon, B Do, A Colin, P Wolkenstein, M Paul
AIM: The aim of this case series was to report the use of topical capsaicin (Qutenza®) in the management of refractory neuropathic pain (NP) in adult patients with type 1-Neurofibromatosis (NF1). METHODS: Capsaicin has been suggested to NF1-patients suffering from refractory peripheral NP despite several years of analgesic treatments. The patch was applied for 60 minutes on the painful area, with tolerability control (blood pressure, intensity of pain and dermal reaction)...
January 25, 2018: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29361882/awake-craniotomy-for-assisting-placement-of-auditory-brainstem-implant-in-nf2-patients
#17
Qiangyi Zhou, Zhijun Yang, Zhenmin Wang, Bo Wang, Xingchao Wang, Chi Zhao, Shun Zhang, Tao Wu, Peng Li, Shiwei Li, Fu Zhao, Pinan Liu
OBJECTIVES: Auditory brainstem implants (ABIs) may be the only opportunity for patients with NF2 to regain some sense of hearing sensation. However, only a very small number of individuals achieved open-set speech understanding and high sentence scores. Suboptimal placement of the ABI electrode array over the cochlear nucleus may be one of main factors for poor auditory performance. In the current study, we present a method of awake craniotomy to assist with ABI placement. METHODS: Awake surgery and hearing test via the retrosigmoid approach were performed for vestibular schwannoma resections and auditory brainstem implantations in four patients with NF2...
January 23, 2018: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/29350599/prognostic-factors-for-progression-in-atypical-meningioma
#18
Shakir I Shakir, Luis Souhami, Kevin Petrecca, Jose João Mansure, Khushdeep Singh, Valerie Panet-Raymond, George Shenouda, Amal A Al-Odaini, Bassam Abdulkarim, Marie-Christine Guiot
OBJECTIVE The optimal adjuvant management for atypical meningiomas remains controversial. The aim of this study was to review long-term outcomes to identify potential prognostic factors for disease progression. METHODS From August 1992 to August 2013, 70 patients with atypical meningioma were treated at the authors' institution. Pathology revision was performed based on WHO 2007 criteria. Patients with multiple tumors, neurofibromatosis Type 2, or inadequate imaging follow-up were not eligible. The authors performed pre- and postoperative serial measurements of tumor volume from MRI...
January 19, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29344779/trigeminal-neuropathy-in-vestibular-schwannoma-a-treatment-algorithm-to-avoid-long-term-morbidity
#19
Luke Galloway, Nachi Palaniappan, Geoffrey Shone, Caroline Hayhurst
BACKGROUND: Trigeminal neuropathy (TGN) can occur as a presenting feature of vestibular schwannoma (VS) or as an adverse effect of radiosurgery. This study was designed to evaluate a treatment algorithm for presenting symptoms of TGN in patients with VS, and a new radiosurgery dosimetric tolerance to avoid TGN after treatment. Outcome was measured after microsurgery (MS), stereotactic radiosurgery (SRS), hypofractionated stereotactic radiotherapy (HSRT), and fractionated radiotherapy (FRT)...
January 17, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29344474/corneal-myofibroma-keloid-in-a-young-patient-with-neurofibromatosis-type-2
#20
Lisa Zimmermann, Thomas Reinhard, Clemens Lange, Steffen Heegaard, Claudia Auw-Haedrich
We present a 27-year-old male patient with neurofibromatosis type 2 (NF2), facial palsy, and lagophthalmos following acoustic neuroma removal and an impressing vascularized corneal tumor, which was excised. Histology showed a fibrous tumor with small vessels, and immunohistochemistry was positive for vimentin and negative for smooth muscle actin, S100, and GFAP. We assume a corneal myofibroma (keloid), which in this case rather represents a reactive lesion. This entity has not been described before in NF2 or in facial palsy-associated lagophthalmos in general...
November 2017: Ocular Oncology and Pathology
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