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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/28318682/predicting-neurofibromatosis-type-1-risk%C3%A2-among-children-with-isolated-caf%C3%A3-au-lait%C3%A2-macules
#1
Shay Ben-Shachar, Tom Dubov, Hagit Toledano-Alhadef, Jacob Mashiah, Eli Sprecher, Shlomi Constantini, Moshe Leshno, Ludwine M Messiaen
BACKGROUND: Although isolated cafe-au-lait macules (CALMs) are a common skin finding, they are an early feature of neurofibromatosis type 1 (NF1). OBJECTIVE: We sought to develop an algorithm determining the risk of children with CALMs to have constitutional NF1. METHODS: We conducted a retrospective study of patients with isolated CALMs. Diagnosis of NF1 was based on detecting NF1 mutation in blood or fulfilling clinical criteria. RESULTS: In all, 170 of 419 (41%) and 21 of 86 (24%) children with isolated CALMs who underwent molecular testing and clinical follow-up, respectively, were given a diagnosis of NF1...
March 15, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#2
Natalie Winter, Tim W Rattay, Hubertus Axer, Eva Schäffer, Bernhard F Décard, Isabel Gugel, Martin Schuhmann, Alexander Grimm
OBJECTIVE: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. METHODS: Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits...
February 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28294345/long-term-mri-surveillance-after-microsurgery-for-vestibular-schwannoma
#3
Mia E Miller, Harrison Lin, Bill Mastrodimos, Roberto A Cueva
OBJECTIVES: To determine the optimal postoperative magnetic resonance imaging (MRI) schedule and length of follow-up for patients undergoing microsurgical excision of vestibular schwannoma (VS). STUDY DESIGN: A retrospective review of patients who underwent microsurgical excision of VS at a single tertiary care center between January 1993 and March 2004. METHODS: Two hundred and twenty subjects were analyzed and characteristics gathered, including tumor size, surgical approach, completeness of resection, and length of follow-up to last MRI...
March 14, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#4
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28265819/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-i-historical-observations-and-clinical-perspectives-on-the-etiology-of-increased-csf-protein-levels-csf-clotting
#5
REVIEW
Yosef Laviv, Burkhard S Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. These tumors can present with obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28265213/revascularization-in-a-17-year-old-girl-with-neurofibromatosis-and-severe-hypertension-caused-by-renal-artery-stenosis
#6
Carmen C Beladan, Oliviana D Geavlete, Simona Botezatu, Marin Postu, Bogdan A Popescu, Carmen Ginghina, Ioan M Coman
Renal artery stenosis caused by neurofibromatosis is a rare cause of renovascular hypertension. This hypertension can develop during childhood and is one of the leading causes of poor outcome. We report the case of a 17-year-old girl who was incidentally diagnosed with severe hypertension. During her examination for secondary hypertension, we reached a diagnosis of neurofibromatosis type 1 on the basis of a cluster of typical findings: optic nerve glioma, café au lait spots, nodular neurofibromas, and axillary freckling...
February 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28254468/pharmacologically-targeting-beta-catenin-for-nf1-associated-deficiencies-in-fracture-repair
#7
Gurpreet S Baht, Puviindran Nadesan, David Silkstone, Benjamin A Alman
Patients with Neurofibromatosis type 1 display delayed fracture healing and the increased deposition of fibrous tissue at the fracture site. Severe cases can lead to non-union and even congenital pseudarthrosis. Neurofibromatosis type 1 is caused by a mutation in the NF1 gene and mice lacking the Nf1 gene show a fracture repair phenotype similar to that seen in patients. Tissue from the fracture site of patients with Neurofibromatosis type 1 and from mice deficient in the Nf1 gene both show elevated levels of β-catenin protein and activation of β-catenin mediated signaling...
February 22, 2017: Bone
https://www.readbyqxmd.com/read/28250072/neurocutaneous-disorders-in-children
#8
Bruce R Korf, E Martina Bebin
Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come...
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28241719/-clinical-application-of-three-dimensional-o-arm-navigation-system-in-treating-patients-with-dystrophic-scoliosis-secondary-to-neurofibromatosis-type-%C3%A2
#9
Z Liu, Y Qiu, Y Li, Z H Zhao, B Wang, F Zhu, Y Yu, X Sun, Z Z Zhu
Objective: To investigate the clinical outcomes and the accuracy of O-arm-navigation system assisted pedicle screw insertion in dystrophic scoliosis secondary to neurofibromatosis type Ⅰ(NF-1). Methods: A retrospective study was conducted in 41 patients with dystrophic NF-1-associated thoracic scoliosis who were surgically treated at Department of Orthopaedics, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School between June 2012 and October 2014 with more than 18 months follow-up...
March 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28237041/diagnostic-and-prognostic-relevance-of-the-cutaneous-manifestations-of-neurofibromatosis-type-2
#10
A Plana-Pla, I Bielsa-Marsol, C Carrato-Moñino
Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease...
February 22, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28210535/magnetic-resonance-imaging-in-a-neurofibromatosis-type-2-patient-with-a-novel-mri-compatible-auditory-brainstem-implant
#11
REVIEW
Matthew Shew, Judson Bertsch, Paul Camarata, Hinrich Staecker
Auditory brainstem implantation has become a key technique for the rehabilitation of hearing in patients with neurofibromatosis type 2. The nature of this devastating genetic disease requires ongoing MRI for the patient's lifespan. Today, most auditory brainstem implants require removal of the magnet that connects the internal device to the external speech processor to undergo imaging as their disease progresses. Patients have the option of having a short procedure to have the magnet taken out and replaced each time, or alternately using a headband to secure the processor over the receiver coil of the internal device...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28203199/plexiform-neurofibroma-involving-the-lacrimal-gland
#12
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard
BACKGROUND: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid. METHODS: A magnetic resonance imaging scan of the orbit revealed a solid tumor located extraconally at the site of the right lacrimal gland. A transcranial orbitotomy was performed. RESULTS: Histopathological examination demonstrated expanded nerve branches/fascicles cut in various planes in between normal lacrimal gland acini...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28193203/first-insight-into-the-somatic-mutation-burden-of-neurofibromatosis-type-2-associated-grade-i-and-grade-ii-meningiomas-a-case-report-comprehensive-genomic-study-of-two-cranial-meningiomas-with-vastly-different-clinical-presentation
#13
Ramita Dewan, Alexander Pemov, Amalia S Dutra, Evgenia D Pak, Nancy A Edwards, Abhik Ray-Chaudhury, Nancy F Hansen, Settara C Chandrasekharappa, James C Mullikin, Ashok R Asthagiri, John D Heiss, Douglas R Stewart, Anand V Germanwala
BACKGROUND: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined. CASE PRESENTATION: Here, we present an in-depth genomic study of benign and atypical meningiomas, both from a single NF2 patient...
February 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28185467/appendicopathy-a-report-of-eight-cases
#14
José Ruiz, Antonio Ríos, María Isabel Oviedo, Jose Manuel Rodríguez, Pascual Parrilla
INTRODUCTION: Neurogenic appendicopathy is not a very well-known disease. OBJECTIVE: To analyze the experience in the management of neurogenic appendicopathy in a tertiary hospital, assessing its clinical presentation, histological staging, the treatment carried out and its clinical evolution. METHOD: The study population included patients with histopathological criteria for neurogenic appendicopathy who did not present with MEN 2B syndrome, neurofibromatosis type I or Cowden syndrome...
February 10, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28168076/coexistence-of-juvenile-like-polyp-with-neurofibroma-at-the-gastroesophageal-junction-in-an-adult-with-neurofibromatosis-type-i
#15
Namrah Aijaz, Peter Draganov, Atif Iqbal, Xiuli Liu
A 23-year-old Caucasian male with Neurofibromatosis Type I (NF-I) was found to have a submucosal nodule at the gastroesophageal junction (GEJ) and underwent endoscopic submucosal dissection. Histological examination revealed two different lesions within the nodule. The dominant lesion was inflammatory/hyperplastic (juvenile-like) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma. Gastric/GEJ lesions in NF-I are very rare with only seven cases reported in the literature. Three cases of juvenile-like gastric polyps (located in the antrum, greater curvature, and fundus) have been reported in adult NF-I patients...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28166752/a-rare-case-of-bilateral-cervical-vagal-neurofibromas-role-of-high-resolution-ultrasound
#16
Bin Liu, Yuanding Zhang, Lili Zhang, Fan Zhang, Hongyu Li, Shuang Li, Yafang Liu, Jie Du, Lirong Zhao
BACKGROUND: Neurofibromas originating from vagus nerves are rarely reported in the literature. In particular, plexiform neurofibromas of the bilateral cervical vagus nerve are extremely rare. CASE PRESENTATION: A 21-year-old female presented with a 2-year history of swelling on the right side of her neck. Physical examination revealed a soft-tissue mass on the right side of her neck. Ultrasonography (US) and magnetic resonance (MR) imaging showed a tumor centered in the right carotid sheath between the internal jugular vein and the common carotid artery...
February 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28162254/medical-treatment-in-neurofibromatosis-type-2-review-of-the-literature-and-presentation-of-clinical-reports
#17
S Goutagny, M Kalamarides
The understanding of the molecular pathways underlying tumor development in neurofibromatosis type 2 (NF2) is increasing. Thus, repositioning drugs, drug therapies that are already clinically available for various cancers, appear potentially promising for NF2 patients. Based on preclinical data from in vitro or animal models, five different treatments have been proposed for selected NF2 cases. Evaluation of bevacizumab, a monoclonal antibody against VEGF has mainly been reported in retrospective studies; it has been reported to induce hearing improvement and tumor shrinkage in more than 50% of progressive vestibular schwannomas (VS)...
February 2, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28150585/the-first-slovak-legius-syndrome-patient-carrying-the-spred1-gene-mutation
#18
Martina Sekelska, Lenka Briatkova, Tomas Olcak, Anna Bolcekova, Denisa Ilencikova, Ludevit Kadasi, Andrea Zatkova
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c...
February 2, 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/28133099/-surgery-for-multiple-gastrointestinal-stromal-tumors-of-the-small-intestine-in-patients-with-neurofibromatosis-type-1-a-report-of-three-cases
#19
Reiko Ohtake, Tsuyoshi Yamaguchi, Satoshi Murata, Sachiko Kaida, Hiroshi Yamamoto, Katsushi Takebayashi, Hiroya Akabori, Hiromichi Sonoda, Tsuyoshi Mori, Tomoharu Shimizu, Shigeyuki Naka, Shigeki Banba, Tomoyuki Tsujikawa, Akira Ando, Masaji Tani
We report 3 cases of multiple GIST of the small intestine in 3 patients with NF1 who have been followed for over 5 years. All patients presented with melena, and tumors of the small intestine suspected to be GIST were found on endoscopy. We performed partial resections of the small intestine for all 3 patients. After surgery, 1 patient had residual tumors that gradually enlarged during 8 year 2 months and another had residual tumors that have been stable for 8 years. In the third patient, we resected all the tumors, and there has been no sign of recurrence in 6 year 1 month...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28128697/gamma-knife-radiosurgery-for-treatment-of-growing-vestibular-schwannomas-in-patients-with-neurofibromatosis-type-2-a-matched-cohort-study-with-sporadic-vestibular-schwannomas
#20
Ivo J Kruyt, Jeroen B Verheul, Patrick E J Hanssens, Henricus P M Kunst
OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Although radiosurgery shows excellent results in sporadic VS, its use in NF2-related VS is still a topic of dispute. The aim of this study was to evaluate long-term tumor control, hearing preservation rates, and factors influencing outcome of optimally dosed, contemporary Gamma Knife radiosurgery (GKRS) for growing VSs in patients with NF2 and compare the findings to data obtained in patients with sporadic VS also treated by means of GKRS...
January 27, 2017: Journal of Neurosurgery
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