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Neurofibromatosis type 1

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https://www.readbyqxmd.com/read/29319283/pruritus-in-neurofibromatosis-type-1
#1
Emanuele Miraglia, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
February 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29319059/retraction-notice-to-repeated-multiple-neurofibromatosis-type-1-in-the-right-lower-limb-a-case-report
#2
(no author information available yet)
[This retracts the article DOI: 10.14740/wjon1011w.].
December 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/29318935/psychosocial-features-of-neurofibromatosis-type-1-in-children-and-adolescents
#3
Vincent Domon-Archambault, Louise Gagnon, Amélie Benoît, Sébastien Perreault
Neurofibromatosis type 1 (NF1) is a common neurologic condition associated with a wide variety of developmental deficits that have an important impact on children and adolescents. OBJECTIVE: This article aims to document the psychosocial features of NF1 and to report the interventions described to address the needs of pediatric patients with NF1. METHODS: A literature review was conducted concerning the social life, mental health, and quality of life (QOL) of children and adolescents with NF1 as well as the psychosocial interventions addressed to this population...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29309686/congress-of-neurological-surgeons-systematic-review-and-evidence-based-guidelines-on-the-role-of-imaging-in-the-diagnosis-and-management-of-patients-with-vestibular-schwannomas
#4
Ian F Dunn, Wenya Linda Bi, Srinivasan Mukundan, Bradley N Delman, John Parish, Tyler Atkins, Anthony L Asher, Jeffrey J Olson
QUESTION 1: What sequences should be obtained on magnetic resonance imaging (MRI) to evaluate vestibular schwannomas before and after surgery? TARGET POPULATION: Adults with vestibular schwannomas. RECOMMENDATIONS: Initial Preoperative Evaluation Level 3: Imaging used to detect vestibular schwannomas should use high-resolution T2-weighted and contrast-enhanced T1-weighted MRI. Level 3: Standard T1, T2, fluid attenuated inversion recovery, and diffusion weighted imaging MR sequences obtained in axial, coronal, and sagittal plane may be used for detection of vestibular schwannomas...
December 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29309632/congress-of-neurological-surgeons-systematic-review-and-evidence-based-guidelines-on-surgical-resection-for-the-treatment-of-patients-with-vestibular-schwannomas
#5
Constantinos G Hadjipanayis, Matthew L Carlson, Michael J Link, Tarek A Rayan, John Parish, Tyler Atkins, Anthony L Asher, Ian F Dunn, C Eduardo Corrales, Jamie J Van Gompel, Michael Sughrue, Jeffrey J Olson
QUESTION 1: What surgical approaches for vestibular schwannomas (VS) are best for complete resection and facial nerve (FN) preservation when serviceable hearing is present? RECOMMENDATION: There is insufficient evidence to support the superiority of either the middle fossa (MF) or the retrosigmoid (RS) approach for complete VS resection and FN preservation when serviceable hearing is present. QUESTION 2: Which surgical approach (RS or translabyrinthine [TL]) for VS is best for complete resection and FN preservation when serviceable hearing is not present? RECOMMENDATION: There is insufficient evidence to support the superiority of either the RS or the TL approach for complete VS resection and FN preservation when serviceable hearing is not present...
December 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29305273/adult-onset-hemorrhagic-quasi-moyamoya-disease-with-unilateral-steno-occlusive-lesion-in-a-patient-with-neurofibromatosis-type-1
#6
Yusuke S Hori, Yuki Ebisudani, Mizuho Aoi, Toru Fukuhara
BACKGROUND: Quasi-moyamoya disease is a condition that occurs in association with a specific underlying condition or disease such as atherosclerotic disease or neurofibromatosis type 1 (NF1). Pediatric cases are frequently reported, and an ischemic and bilateral presentation is more common than a hemorrhagic and unilateral presentation. CLINICAL PRESENTATION: A 39-year-old woman previously diagnosed with NF1 presented to our department with nausea and left hemiparesis...
January 2, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29299101/rib-head-dislocation-causing-spinal-canal-stenosis-in-a-child-with-neurofibromatosis-type-1
#7
Alan M Chen, Jeffrey B Neustadt, Jennifer Neville Kucera
A 10-year-old female with neurofibromatosis type 1 and severe dystrophic scoliosis presented with a two-month history of difficulty ambulating due to low back pain. The patient did not have any neurological symptoms. MRI of the thoracolumbar spine demonstrated subluxation of the right posterior tenth and eleventh ribs through their respective neural foramina, with mild mass effect on the thecal sac without abnormal cord signal or cord compression. Groups of neurofibromas were present along the right ribs and paravertebral soft tissues around these levels...
August 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29291199/surgical-resection-of-rare-internal-jugular-vein-aneurysm-in-neurofibromatosis-type-1
#8
Khortnal Delvecchio, Fazaldin Moghul, Bipinchandra Patel, Susan Seman
Neurofibromatosis type 1 is a congenital condition affecting neurons and connective tissue integrity including vasculature. On extremely rare occasions these patients present with venous aneurysms affecting the internal jugular vein. If they become large enough there presents a risk of rupture, thrombosis, embolization or compression of adjacent structures. In these circumstances, or when the patient becomes symptomatic, surgical exploration is warranted. We present a case of one of the largest aneurysms in the literature and one of only five associated with Neurofibromatosis type 1...
December 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29290338/genotype-phenotype-correlation-in-nf1-evidence-for-a-more-severe-phenotype-associated-with-missense-mutations-affecting-nf1-codons-844-848
#9
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, Troy A Becker, Shay Ben-Shachar, Debora R Bertola, Jaishri O Blakeley, Emma M M Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S Cunha, Mitch Cunningham, Maria D D'Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D Gareth R Evans, Patricia Galvin-Parton, Jaya K George-Abraham, Karen W Gripp, Jose Guevara-Campos, Neil A Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J Jones, Beth A Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W Stockton, Eva Trevisson, Nicole J Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R Korf, Eric Legius, Ludwine M Messiaen
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD)...
December 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29290016/near-infrared-imaging-an-in-vivo-non-invasive-diagnostic-tool-in-neurofibromatosis-type-1
#10
Antonietta Moramarco, Sandra Giustini, Italo Nofroni, Fabiana Mallone, Emanuele Miraglia, Chiara Iacovino, Stefano Calvieri, Alessandro Lambiase
PURPOSE: Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes. METHODS: This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT...
December 30, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29288991/nerve-ultrasound-in-neurofibromatosis-type-1-a-follow-up-study
#11
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
OBJECTIVE: To investigate development of sonographic abnormalities and applications of high-resolution ultrasonography (HRUS) in neurofibromatosis type 1 (NF1). METHODS: Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper and lower extremity nerves were investigated. Peripheral nerve involvement was graded. RESULTS: Plexiform neurofibromas (PNFs) were found in 7 patients (43...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29286874/malignant-peripheral-nerve-sheath-tumor-in-children-a-single-institute-retrospective-analysis
#12
Hong Yul An, Kyung Taek Hong, Hyoung Jin Kang, Jung Yoon Choi, CheRy Hong, Hyun-Young Kim, Tae Hyun Choi, Chang Hyun Kang, Han-Soo Kim, Jung-Eun Cheon, Sung-Hye Park, June Dong Park, Kyung Duk Park, Hee Young Shin
Malignant peripheral nerve sheath tumors are rare tumors that originate from Schwann cells. Patients with neurofibromatosis type 1 are prone to develop these tumors. Due to their rarity and lack of established treatment, the prognosis of malignant peripheral nerve sheath tumors is poor. A retrospective study was conducted on children treated for malignant peripheral nerve sheath tumors at the Seoul National University Children's Hospital between 2007 and 2016. Eleven patients were diagnosed with malignant nerve sheath tumors at a median age of 12 years, eight of whom had neurofibromatosis type 1...
December 29, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29286196/breast-cancer-in-a-patient-with-neurofibromatosis-type-1
#13
Mandeep Garg, Nidhi Prabhakar, Veenu Singla, Tulika Singh, Gurpreet Singh, Amanjit Bal, Niranjan Khandelwal
No abstract text is available yet for this article.
December 29, 2017: Breast Journal
https://www.readbyqxmd.com/read/29283150/a-multidisciplinary-approach-to-sphenoid-wing-dysplasia-presenting-with-pulsatile-proptosis-in-neurofibromatosis-type-1-a-rare-case-report
#14
S Prathibha, Vandana Parasar, S Yasmin, V V Seetha Pramila
Neurofibromatosis (NF) with sphenoid wing dysplasia is a rare clinical entity. Herewith, we present a case of NF with sphenoid wing dysplasia which presented with pulsatile progressive proptosis. Other ocular symptoms or visual disturbances were absent. Diagnosis of the condition was not easy and the management was a challenging task which needed multidisciplinary approach as there were ocular, neurological, orthopedic, and dermatological manifestations. With neurosurgical intervention, reconstruction of the sphenoid wing was possible...
January 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29280458/radiation-therapy-for-optic-pathway-and-hypothalamic-low-grade-gliomas-in-children
#15
Derek S Tsang, Erin S Murphy, Thomas E Merchant
PURPOSE: The long-term survival of pediatric patients with optic pathway or hypothalamic low-grade glioma (LGG) who receive radiation therapy (RT) has not been previously assessed. METHODS AND MATERIALS: A retrospective study was performed of all patients with optic-hypothalamic pediatric LGG treated with RT at a single institution. Eligible patients were aged ≤21 years at the time of RT and had localized LGG diagnosed by neuroimaging or histology. The median RT dose was 54 Gy, delivered in 30 fractions...
November 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29279723/diagnostics-and-therapy-of-vestibular-schwannomas-an-interdisciplinary-challenge
#16
REVIEW
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas (VS) expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100,000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
2017: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/29276786/endovascular-treatment-for-a-ruptured-lumbar-artery-aneurysm-in-a-patient-with-von-recklinghausen-disease
#17
T Ishigaki, R Kawasaki, H Matsuda, N Mukohara
Introduction: Vasculopathy, such as an aneurysm, stenosis, rupture, or arteriovenous fistula, in patients with neurofibromatosis type I (NF-1; von Recklinghausen disease) is well recognised. However, there has been no report regarding treatment for a ruptured lumbar artery aneurysm associated with NF-1. We present the first report of successful endovascular treatment by coil embolisation for a ruptured lumbar artery aneurysm in a patient with NF-I. Report: A 52 year old man with a history of NF-1 was referred with back pain and anaemia...
2018: EJVES Short Reports
https://www.readbyqxmd.com/read/29273891/pedsql-neurofibromatosis-type-1-module-for-children-adolescents-and-young-adults-feasibility-reliability-and-validity
#18
Kavitha Nutakki, James W Varni, Nancy L Swigonski
The objective of the present study was to report on the measurement properties of the Pediatric Quality of Life Inventory (PedsQL) Neurofibromatosis Type 1 Module for pediatric patients ages 5-25 from the perspectives of patients and parents. The 104-item PedsQL NF1 Module and 23-item PedsQL Generic Core Scales were completed in a multi-site national study by 323 patients and 335 parents (343 families). Patients were diagnosed with NF1 using the National Institutes of Health diagnostic criteria. In addition to a Total Scale Score, 18 unidimensional scales were derived measuring skin itch bother, skin sensations, pain, pain impact, pain management, cognitive functioning, speech, fine motor, balance, vision, perceived physical appearance, communication, worry, treatment anxiety, medicines, stomach discomfort, constipation, and diarrhea...
December 22, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29261174/school-liaison-program-supporting-children-with-neurofibromatosis-type-1-a-model-of-care-for-children-with-chronic-disease
#19
Meredith A Chambers, David T Miller, Nicole J Ullrich
No abstract text is available yet for this article.
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29250697/two-girl-patients-with-medulloblastoma-case-reports
#20
Laura Daniela Marinău, Cristina Elena Singer, Cristian Meşină, Elena Carmen Niculescu, Ileana Puiu, Ileana Octavia Petrescu, Cristiana Geormăneanu, Augustina Cornelia Enculescu, Daniela Elise Tache, Ştefana Oana Purcaru, Simona Răciulă, Cosmina Lucia Damian
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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