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https://www.readbyqxmd.com/read/29450403/iris-juvenile-xanthogranuloma-in-an-infant-spontaneous-hyphema-and-secondary-glaucoma
#1
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/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/29449010/a-brief-report-of-plexiform-neurofibroma
#3
Mahdi Khajavi Md, Shahrokh Khoshsirat Md, Lida Ahangarnazari Md, Niloofar Majdinasab Md
Plexiform neurofibroma (PNF) is a rare variant of neurofibromatosis type1 (NF-1), which histopathologically, is a subtype of benign nerve sheath tumors, neurofibromas (NF). It develops as a result of proliferation in all parts of peripheral nervous system and can cause the functional damage, deformities, pain, considerable mortality, and morbidity and even the increasing risk of malignant transformation in some critical cases. Currently, the surgical intervention is the treatment of choice for PNF patients, which due to the tumor invasion, massive growth, and the chance of postoperative regrowth is not possible...
January 10, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29444793/isolated-bladder-schwannoma-a-rare-presentation
#4
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
https://www.readbyqxmd.com/read/29443803/newly-diagnosed-asymptomatic-retinal-astrocytic-hamartoma-in-an-older-adult
#5
A Kaan Gündüz, Carol L Shields, Gökçen Çöndü, Ragıp Gürsel
BACKGROUND: To report a coincidentally discovered retinal astrocytic hamartoma in an asymptomatic older woman with no history of tuberous sclerosis or neurofibromatosis. METHODS: A 63-year-old Turkish woman underwent routine ophthalmic examination. RESULTS: Visual acuity was 20/25 in each eye. On fundus examination, the right eye showed a flat yellow-white superficial retinal lesion in the inferotemporal macula and measuring 1 mm in diameter...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29441226/plexiform-neurofibroma-in-the-axilla-with-intraosseous-neurofibroma-in-the-humerus-in-neurofibromatosis-5
#6
Sanjay Mhalasakant Khaladkar, Surbhi Chauhan, Raghav Kalra, Shishir Chauhan
Segmental neurofibromatosis type 5 (NF5) is a rare form of NF, in which the cutaneous and/or neural changes are confined to one region of the body. It is often underdiagnosed or undetected due to the absence of symptoms. Inheritance of NF is different from other types of NF. Intraosseous neurofibromas are rare tumors which develop from nerves supplying the periosteum or nerves following the intraosseous course. Plexiform neurofibroma with associated intraosseous neurofibroma is extremely rare. We report a case of plexiform neurofibroma in the left axilla of a 17-year-old female with associated intraosseous neurofibroma in adjoining left humerus...
2018: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#7
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/29440379/targeting-the-cmet-pathway-augments-radiation-response-without-adverse-effect-on-hearing-in-nf2-schwannoma-models
#8
Yingchao Zhao, Pinan Liu, Na Zhang, Jie Chen, Lukas D Landegger, Limeng Wu, Fu Zhao, Yanxia Zhao, Yanling Zhang, Jing Zhang, Takeshi Fujita, Anat Stemmer-Rachamimov, Gino B Ferraro, Hao Liu, Alona Muzikansky, Scott R Plotkin, Konstantina M Stankovic, Rakesh K Jain, Lei Xu
Neurofibromatosis type II (NF2) is a disease that needs new solutions. Vestibular schwannoma (VS) growth causes progressive hearing loss, and the standard treatment, including surgery and radiotherapy, can further damage the nerve. There is an urgent need to identify an adjunct therapy that, by enhancing the efficacy of radiation, can help lower the radiation dose and preserve hearing. The mechanisms underlying deafness in NF2 are still unclear. One of the major limitations in studying tumor-induced hearing loss is the lack of mouse models that allow hearing testing...
February 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29440241/-if-there-were-water-we-should-stop-and-drink-neurofibromatosis-presenting-with-diabetes-insipidus
#9
Rachel Barry, Antoinette O' Connor, Mohn Hazriq Awang, Orna O' Toole
A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. A subsequent water deprivation test confirmed central diabetes insipidus, which responded to treatment with desmopressin...
February 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29435207/supernumerary-molars-and-wisdom-tooth-shape-alterations-in-patients-with-neurofibromatosis-type-1
#10
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
#11
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/29429787/the-difficulty-of-predicting-clinical-outcome-after-intended-submaximal-resection-of-large-vestibular-schwannomas
#12
Rebecca MacKenzie, Peter Sporns, Tarek Zoubi, Mario Koopmann, Christian Ewelt, Walter Stummer, Benjamin Brokinkel, Eric Suero Molina
INTRODUCTION: Intended subtotal resection of large vestibular schwannomas (T4a and b according to the Hannover classification system) has been shown to be safe and, in combination with stereotactic radiosurgery, might enable sufficient tumor control. However, risk factors for postoperative neurological deterioration in these surgically challenging lesions are largely unknown. METHODS: Pre- and postoperative symptoms, clinical and radiological data of patients who underwent intended subtotal resection for vestibular schwannoma in our department between 2010 and 2014 were reviewed...
February 8, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29429039/health-survey-of-adults-with-neurofibromatosis-1-compared-to-population-study-controls
#13
Krister W Fjermestad, Livø Nyhus, Øivind J Kanavin, Arvid Heiberg, Lise B Hoxmark
Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62...
February 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29427150/programmed-death-ligand-1-expression-and-tumor-infiltrating-lymphocytes-in-neurofibromatosis-type-1-and-2-associated-tumors
#14
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
#15
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/29424646/optic-pathway-hypothalamic-glioma-hemorrhage-a-series-of-9-patients-and-review-of-the-literature
#16
Kirsten van Baarsen, Jonathan Roth, Natalia Serova, Roger J Packer, Ben Shofty, Ulrich-W Thomale, Giuseppe Cinalli, Helen Toledano, Shalom Michowiz, Shlomi Constantini
OBJECTIVE Hemorrhage (also known as apoplexy) in optic pathway gliomas (OPGs) is rare. Because of the variable presentations and low incidence of OPG hemorrhages, little is known about their clinical course and the best treatment options. The aim of this work was to review risk factors, clinical course, and treatment strategies of optic glioma hemorrhages in the largest possible number of cases. METHODS A total of 34 patients were analyzed. Nine new cases were collected, and 25 were identified in the literature...
February 9, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29423604/autism-spectrum-disorder-in-an-unselected-cohort-of-children-with-neurofibromatosis-type-1-nf1
#17
S Eijk, S E Mous, G C Dieleman, B Dierckx, A B Rietman, P F A de Nijs, L W Ten Hoopen, R van Minkelen, Y Elgersma, C E Catsman-Berrevoets, R Oostenbrink, J S Legerstee
In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments...
February 8, 2018: Journal of Autism and Developmental Disorders
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
#18
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/29415745/cutaneous-neurofibromas-in-neurofibromatosis-type-i-a-quantitative-natural-history-study
#19
Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P Boyd, Amy Theos, David T Redden, Bruce Korf
BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions...
February 7, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29409029/the-characteristics-of-76-atypical-neurofibromas-as-precursors-to-neurofibromatosis-1-associated-malignant-peripheral-nerve-sheath-tumors
#20
Christine S Higham, Eva Dombi, Aljosja Rogiers, Sucharita Bhaumik, Steven Pans, Steve E J Connor, Markku Miettinen, Raf Sciot, Roberto Tirabosco, Hilde Brems, Andrea Baldwin, Eric Legius, Brigitte C Widemann, Rosalie E Ferner
Background: Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in pre-existing benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. We aimed to clinically characterize ANF and identify management approaches. Methods: We analyzed clinical, imaging, and pathology findings of all patients with NF1 and ANF at three institutions...
February 2, 2018: Neuro-oncology
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