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Neurofibromatosis

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https://www.readbyqxmd.com/read/28820301/translabyrinthine-microsurgical-resection-of-small-vestibular-schwannomas
#1
Marc S Schwartz, Gregory P Lekovic, Mia E Miller, William H Slattery, Eric P Wilkinson
OBJECTIVE Translabyrinthine resection is one of a number of treatment options available to patients with vestibular schwannomas. Though this procedure is hearing destructive, the authors have noted excellent clinical outcomes for patients with small tumors. The authors review their experience at a tertiary acoustic neuroma referral center in using the translabyrinthine approach to resect small vestibular schwannomas. All operations were performed by a surgical team consisting of a single neurosurgeon and 1 of 7 neurotologists...
August 18, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28820281/isolated-cranio-orbitofacial-neurofibroma-mimicking-vascular-malformation
#2
Harinder S Chahal, Brandon Kuiper, Puneet S Braich, A Tyrone Glover
Isolated neurofibromas in the absence of systemic neurofibromatosis are known as solitary or localized neurofibromas. When present in the orbit, these lesions may appear clinically and radiographically similar to other tumors, complicating diagnosis and management. Key radiographic signs may guide clinicians to the correct diagnosis when the presentation and patient demographic data obfuscate the disease entity. We present a case of a large multi-lobulated neurofibroma misdiagnosed as a lymphangioma. A brief review of these tumors emphasizing key radiographic features is also included...
August 18, 2017: Orbit
https://www.readbyqxmd.com/read/28815922/the-pregnancy-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#3
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Susanna Timonen, Juha Peltonen, Sirkku Peltonen
The objective of this retrospective total population study was to form a view of the pregnancies of the patients with neurofibromatosis type 1 (NF1). A cohort of 1,410 Finnish patients with NF1 was acquired by searching NF1-related inpatient and outpatient hospital visits and confirming the diagnoses by reviewing the medical records. Ten matched control persons per patient with NF1 were collected from Population Register Centre. Study persons were linked to data from Medical Birth Register and Care Register for Health Care through the personal identity code...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814319/constipation-in-adults-with-neurofibromatosis-type-1
#4
Cecilie Ejerskov, Klaus Krogh, John R Ostergaard, Janne L Fassov, Annette Haagerup
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Patients with NF1 were recruited from one of two Danish National Centres of Expertise for NF1 and their unaffected relatives were invited to participate as controls...
August 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28813519/expression-and-inhibition-of-brd4-ezh2-and-top2a-in-neurofibromas-and-malignant-peripheral-nerve-sheath-tumors
#5
Azadeh Amirnasr, Rob M Verdijk, Patricia F van Kuijk, Walter Taal, Stefan Sleijfer, Erik A C Wiemer
Malignant peripheral nerve sheath tumors (MPNST) are rare, highly aggressive sarcomas that can occur spontaneously or from pre-existing plexiform neurofibromas in neurofibromatosis type1 (NF1) patients. MPNSTs have high local recurrence rates, metastasize easily, are generally resistant to therapeutic intervention and frequently fatal for the patient. Novel targeted therapeutic strategies are urgently needed. Standard treatment for patients presenting with advanced disease is doxorubicin based chemotherapy which inhibits the actions of the enzyme topoisomerase IIα (TOP2A)...
2017: PloS One
https://www.readbyqxmd.com/read/28812461/soft-tissue-perineurioma-in-a-child-with-neurofibromatosis-type-1-a-case-report-and-review-of-the-literature
#6
Mudher Al-Adnani
Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. A subcutaneous, well circumscribed mass was removed. The cut surface was cream with a vaguely nodular appearance. Histology showed a spindle cell lesion with variable architecture and biphasic morphology. There was no nuclear atypia or pleomorphism...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28809766/crispr-cas9-editing-of-nf1-gene-identifies-crmp2-as-a-therapeutic-target-in-neurofibromatosis-type-1-nf1-related-pain-that-is-reversed-by-s-lacosamide
#7
Aubin Moutal, Xiaofang Yang, Wennan Li, Kerry B Gilbraith, Shizhen Luo, Song Cai, Liberty François-Moutal, Lindsey A Chew, Seul Ki Yeon, Shreya S Bellampalli, Chaoling Qu, Jennifer Y Xie, Mohab M Ibrahim, May Khanna, Ki Duk Park, Frank Porreca, Rajesh Khanna
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. NF1 patients commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in identifying sensitization of ion channels as a possible cause underlying the heightened pain suffered by NF1 patients. However, behavioral assessments of Nf1+/- mice have led to uncertain conclusions about the potential causal role of Nf1 in pain. We used the clustered regularly interspaced short palindromic repeats/(CRISPR)-associated 9 (CRISPR/Cas9) genome editing system to create and mechanistically characterize a novel rat model of NF1-related pain...
July 3, 2017: Pain
https://www.readbyqxmd.com/read/28808787/malignant-transformation-of-a-conservatively-managed-incidental-childhood-cerebral-mass-lesion-controversy-regarding-management-paradigm
#8
Jehuda Soleman, Jonathan Roth, Zvi Ram, Michal Yalon, Shlomi Constantini
BACKGROUND: Incidental findings on neuroimaging in the pediatric population are an emerging treatment challenge. Treatment options for these incidental childhood brain mass lesions, which radiologically may be assumed to be low-grade gliomas (LGG), vary, ranging from careful conservative "wait and scan" treatment to surgical biopsy, gross total resection, and upfront radiation and/or chemotherapy. As malignant transformation of LGG in children is extremely rare, some series advocate careful conservative management of these lesions; however, universal treatment protocols are not totally agreed upon...
August 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28808608/intrathecal-catheter-associated-inflammatory-mass-in-a-neurofibromatosis-type-1-patient-receiving-fentanyl-and-bupivacaine
#9
Derek G Southwell, Joseph A Osorio, Christopher S Liverman, Lauren M Friedman, Ramana K Naidu, Lawrence R Poree, Melanie M Henry, Line Jacques
BACKGROUND: Catheter-associated inflammatory masses (CIMs) are a rare but serious complication of intrathecal drug delivery devices. CIM formation is influenced by local medication concentration, which is determined in part by flow dynamics at the catheter tip. Underlying spinal pathologies, such as neoplasms, may alter flow at the catheter tip, thereby contributing to CIM formation. Moreover, they may also complicate the clinical and radiologic diagnosis of a CIM. CASE DESCRIPTION: A 36-year-old man with neurofibromatosis type 1 presented to our emergency department with complaints of increased back pain and leg weakness...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28806346/optic-pathway-gliomas-in-neurofibromatosis-type-1-an-update-surveillance-treatment-indications-and-biomarkers-of-vision
#10
Peter M K de Blank, Michael J Fisher, Grant T Liu, David H Gutmann, Robert Listernick, Rosalie E Ferner, Robert A Avery
Optic pathway gliomas (OPGs) occur in 15%-20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals. The goal of chemotherapy is to preserve vision, but vision loss in NF1-associated OPG can be unpredictable. Determining which child would benefit from chemotherapy and, equally important, which child is better observed without treatment can be difficult. Unfortunately, despite frequent imaging and ophthalmologic evaluations, some children experience progressive vision loss before treatment...
September 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28806327/long-term-quality-of-life-following-vestibular-schwannoma-excision-via-the-translabyrinthine-approach
#11
Stephen J Broomfield, Ashish K Mandavia, Jack S Nicholson, Osama Mahmoud, Andrew T King, Scott A Rutherford, Richard T Ramsden
OBJECTIVE: To assess postoperative quality of life (QOL) and other patient-reported outcomes following surgery for vestibular schwannoma. STUDY DESIGN: Cross-sectional retrospective case review using postal questionnaires. SETTING: Tertiary referral center. PATIENTS: Five hundred consecutive patients undergoing surgery for vestibular schwannoma. INTERVENTION(S): Patients undergoing surgery via the translabyrinthine approach (excluding neurofibromatosis type 2) under the senior author, with a minimum of 5 years follow-up, were included...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28804759/updated-nomenclature-for-human-and-mouse-neurofibromatosis-type-1-genes
#12
Corina Anastasaki, Lu Q Le, Robert A Kesterson, David H Gutmann
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28803890/hybrid-whole-body-18-f-fdg-pet-mr-in-evaluation-of-plexiform-neurofibromatosis-type-1
#13
M Yang, Y Zhou, J M Hoxworth, A B Porter, M C Roarke
No abstract text is available yet for this article.
August 10, 2017: Revista Española de Medicina Nuclear e Imagen Molecular
https://www.readbyqxmd.com/read/28799319/ataxia-in-a-young-female
#14
R Jayanthi, K Monica, K Raja, C S Gauthaman, P P Arunkumar
Neurofibromatosis type 2 (NF2) is a genetically inherited disorder characterized by the presence of multiple central nervous system tumours, most pathognomonic being bilateral vestibular schwannomas with or without peripheral manifestations in the form of cataract or cutaneous neurofibromas. NF2 is an uncommon disorder compared to NF1. We describe a classical case of neurofibromatosis type 2 with florid clinical manifestations and characteristic neuroimaging features. We also briefly describe the literature pertaining to this rare disorder...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28798249/sight-preserving-orbital-decompression-a-novel-multidisciplinary-approach-to-managing-severe-proptosis-in-neurofibromatosis-type-2
#15
George Henry Lafford, Simon James Eccles, Jahrad Haq, Nara Orban
We describe the importance of collaboration between multiple surgical specialties in managing a complex case of sight-threatening severe proptosis in a young woman with type 2 neurofibromatosis (NF2) complicated by pre-existing contralateral blindness. Trans-nasal and lateral orbital surgical approaches were aided by stereotactic navigation to debulk a large frontal/sphenoid wing meningioma, which had been exerting pressure onto the right globe and optic nerve. The patient made an excellent postoperative recovery along with preserved residual visual acuity, normal neurology and a good aesthetic outcome...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28798215/spinal-and-paraspinal-plexiform-neurofibromas-in-patients-with-neurofibromatosis-type-1-a-novel-scoring-system-for-radiological-clinical-correlation
#16
M Mauda-Havakuk, B Shofty, S Ben-Shachar, L Ben-Sira, S Constantini, F Bokstein
BACKGROUND AND PURPOSE: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome. MATERIALS AND METHODS: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Longitudinal clinical evaluation included pain and neurologic deficits...
August 10, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28796925/neurological-comorbidity-in-children-with-neurofibromatosis-type-1
#17
Keiko Hirabaru, Muneaki Matsuo
OBJECTIVE: To determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1). METHODS: We performed a nationwide survey to investigate neurological comorbidities in 3-15-year-old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit hyperactivity disorder (ADHD)-Rating Scale (RS), and the Social Responsiveness Scale -2...
August 10, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28794605/schwannoma-of-the-penis-presenting-as-a-scrotal-mass-rare-entity-with-an-uncommon-presentation
#18
Ujwal Kumar, Nawal Kishore Jha
Schwannomas are benign nerve sheath tumors that are seen either sporadically or in patients of neurofibromatosis. This tumor is common in head, neck, and extremities. Penis is a rare site for this tumor. To the very best of our knowledge, <34 cases of penile schwannoma have been reported in literature till now, but none had presented as scrotal mass. Here, we report a case of penile schwannoma in a 16-year-old male boy who presented in our outpatient department with a slowly growing scrotal mass. Our patient did not have any other feature of neurofibromatosis...
July 2017: Urology Annals
https://www.readbyqxmd.com/read/28781128/six-cases-of-sporadic-schwannomatosis-topographic-distribution-and-outcomes-of-peripheral-nerve-tumors
#19
G Chick, J Victor, N Hollevoet
The diagnosis of schwannomatosis is often overestimated and is based on the existence of multiple peripheral nerve tumors composed exclusively of schwannomas, in the absence of clinical signs of neurofibromatosis type 2 (NF2). Sporadic forms are much more frequent than familial forms. The objective of this study was to describe the distribution of peripheral nerve tumors and investigate the outcomes of schwannomas in the context of sporadic schwannomatosis. We conducted a retrospective study of patients who fulfilled clinical diagnostic criteria for sporadic schwannomatosis...
August 3, 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28776749/psychosocial-functioning-self-image-and-quality-of-life-in-children-and-adolescents-with-neurofibromatosis-type-1
#20
S Cipolletta, G Spina, A Spoto
BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurocutaneus manifestations, as well as attention and learning problems. The aim of this study was to examine the psychosocial functioning, quality of life, and self-image of children with NF1. METHOD: Two hundred forty participants were recruited, comprising 60 children and adolescents with NF1, 60 parents of children with NF1, 60 children and adolescents without NF1, and 60 parents of children without NF1...
August 3, 2017: Child: Care, Health and Development
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