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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/29215653/prevalence-of-neurofibromatosis-type-1-in-the-finnish-population
#1
Roope A Kallionpää, Elina Uusitalo, Jussi Leppävirta, Minna Pöyhönen, Sirkku Peltonen, Juha Peltonen
PurposeThe incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective total-population study was aimed at determining the prevalence of NF1 in Finland.MethodsAll secondary and tertiary referral centers of Finland were searched for NF1 patients. Patient records were manually reviewed and patients fulfilling the National Institutes of Health diagnostic criteria for NF1 were included. Prevalence on 31 December 2005 was determined. Data on incidence and survival were combined to refine the prevalence estimation...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29206885/does-elevated-glucose-metabolism-correlate-with-higher-cell-density-in-neurofibromatosis-type-1-associated-peripheral-nerve-sheath-tumors
#2
Dominik Berzaczy, Marius E Mayerhoefer, Amedeo A Azizi, Alexander R Haug, Daniela Senn, Dietrich Beitzke, Michael Weber, Tatjana Traub-Weidinger
PURPOSE: To investigate whether elevated glucose metabolism in neurofibroma, determined by [F18]-FDG-PET, is correlated with cell density in MRI, as expressed through the apparent diffusion coefficient. MATERIALS AND METHODS: Patients diagnosed with neurofibromatosis type 1 and peripheral nerve sheath tumors (PNST) were enrolled in this prospective, IRB-approved study. After a single [F18]-FDG injection, patients consecutively underwent [F18]-FDG-PET/CT and [F18]-FDG-PET/MRI on the same day...
2017: PloS One
https://www.readbyqxmd.com/read/29196927/characteristics-of-cerebellar-glioblastomas-in-adults
#3
Thiébaud Picart, Marc Barritault, Julien Berthillier, David Meyronet, Alexandre Vasiljevic, Didier Frappaz, Jérôme Honnorat, Emmanuel Jouanneau, Delphine Poncet, François Ducray, Jacques Guyotat
Adult cerebellar glioblastomas (cGBM) are rare and their characteristics remain to be fully described. We analyzed the characteristics of 17 adult patients with cGBM and compared them to a series of 103 patients presenting a supra-tentorial glioblastoma (stGBM). The mean age at GBMc diagnosis was 53.4 years (range 28-77). A history of neurofibromatosis type I was noted in 3 patients. cGBM were hemispheric in 10 patients (58.8%), only vermian in 4 patients (23.5%), and both vermian and hemispheric in 3 patients (17...
December 1, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29188529/spinal-ependymomas-in-nf2-a-surgical-disease
#4
M Kalamarides, W Essayed, J P Lejeune, R Aboukais, O Sterkers, D Bernardeschi, M Peyre, S K Lloyd, S Freeman, C Hammerbeck-Ward, M Kellett, S A Rutherford, D G Evans, O Pathmanaban, A T King
The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients...
November 29, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29185816/measurements-of-retinal-nerve-fiber-thickness-and-ganglion-cell-complex-in-neurofibromatosis-type-1-with-and-without-optic-pathway-gliomas-a-case-series
#5
Nedime Sahinoglu-Keskek, Rana Altan-Yaycioglu, Handan Canan, Muge Coban-Karatas, Ayşe Erbay, Nalan Yazıcı, Ozlem Alkan
PURPOSE: The aim of this study was to investigate differences in retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thicknesses in neurofibromatosis 1 (NF1) cases, with and without optic pathway gliomas (OPGs). MATERIALS AND METHODS: In total, 33 eyes of 33 subjects were evaluated in this prospective observational case series. Twenty-one patients with a diagnosis of NF1 were enrolled. Patients with NF1 and OPGs were included in Group 1 (n = 9), and patients with NF1 without OPGs were included in Group 2 (n = 12)...
November 29, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29179212/luks-pv-regulated-microrna-125a-3p-promotes-thp-1-macrophages-differentiation-and-apoptosis-by-down-regulating-nf1-and-bcl-2
#6
Xiao-Xi Sun, Shan-Shan Zhang, Chun-Yang Dai, Jing Peng, Qing Pan, Liang-Fei Xu, Xiao-Ling Ma
BACKGROUND/AIMS: LukS-PV is a component of Panton-Valentine leukocidin (PVL). We have previously demonstrated that LukS-PV potently promoted differentiation and induced apoptosis in THP-1 cells. However, the precise mechanisms of these actions remain unknown. MicroRNAs (miRs) play important roles in cellular differentiation and apoptosis. This study aimed to investigate the role of miR-125a-3p in LukS-PV-regulated differentiation and apoptosis and its underlying mechanism in THP-1 cells...
November 27, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29166454/the-clinical-genetics-of-phaeochromocytoma-and-paraganglioma
#7
P T Kavinga Gunawardane, Ashley Grossman
Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Nonetheless, apparently sporadic phaeochromocytoma too show high germline mutation rates. Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis...
October 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29146762/natural-history-of-primary-paediatric-optic-nerve-sheath-meningioma-case-series-and-review
#8
Daniel S Narayan, Ghislaine L Traber, Edwin Figueira, Adnan Pirbhai, Klara Landau, Garry Davis, John Crompton, Dinesh Selva
PURPOSE: To study the natural history, clinical and radiological characteristics of primary paediatric optic nerve sheath meningioma (PPONSM). METHODS: Retrospective study of eight paediatric patients who were treated between 1994 and 2016 at the University Hospital Zurich, Switzerland and the Royal Adelaide Hospital, Australia. Clinical records and imaging studies were reviewed. RESULTS: The mean age at presentation was 11 years (range: 6-17 years)...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29140965/long-term-hearing-preservation-after-resection-of-vestibular-schwannoma-a-systematic-review-and-meta-analysis
#9
Syed F Ahsan, Farhan Huq, Michael Seidman, Andrew Taylor
OBJECTIVE: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection. DATA SOURCES: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015. STUDY SELECTION: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29138631/sarc006-phase-ii-trial-of-chemotherapy-in-sporadic-and-neurofibromatosis-type-1-associated-chemotherapy-naive-malignant-peripheral-nerve-sheath-tumors
#10
Christine S Higham, Seth M Steinberg, Eva Dombi, Arie Perry, Lee J Helman, Scott M Schuetze, Joseph A Ludwig, Arthur Staddon, Mohammed M Milhem, Daniel Rushing, Robin L Jones, Michael Livingston, Stewart Goldman, Christopher Moertel, Lars Wagner, David Janhofer, Christina M Annunziata, Denise Reinke, Lauren Long, David Viskochil, Larry Baker, Brigitte C Widemann
Background: Worse chemotherapy response for neurofibromatosis type 1- (NF1-) associated compared to sporadic malignant peripheral nerve sheath tumors (MPNST) has been reported. Methods: We evaluated the objective response (OR) rate of patients with AJCC Stage III/IV chemotherapy-naive NF1 MPNST versus sporadic MPNST after 4 cycles of neoadjuvant chemotherapy, 2 cycles of ifosfamide/doxorubicin, and 2 cycles of ifosfamide/etoposide. A Simon optimal two-stage design was used (target response rate 40%)...
2017: Sarcoma
https://www.readbyqxmd.com/read/29137312/neurofibromatosis-type-1-is-a-prognostic-indicator-in-human-gastric-carcinoma
#11
Debao Liu, Yueying Zhang, Yan Li, Kaixi Fan
We investigated whether the Neurofibromatosis type-1(NF1) gene was of prognostic relevance to gastric cancer (GC) patients. Immunohistochemical staining of 160 matched GC tumor and adjacent normal tissue samples showed that 58.1% (93/160) of GC samples were NF1-positive as compared to 94.4% (151/160) of normal tissue samples (χ(2)=58.05, P <0.001). qRT-PCR analysis revealed that NF1 mRNA expression is lower in GC tissues than normal tissues (χ(2)=34.23, P <0.001). Moreover, NF1 protein and mRNA levels were associated with T stage (P <0...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137242/immune-profiling-of-nf1-associated-tumors-reveals-histologic-subtype-distinctions-and-heterogeneity-implications-for-immunotherapy
#12
Kellie B Haworth, Michael A Arnold, Christopher R Pierson, Kwangmin Choi, Nicholas D Yeager, Nancy Ratner, Ryan D Roberts, Jonathan L Finlay, Timothy P Cripe
Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29130639/calvarial-mass-as-a-presenting-feature-of-neurofibromatosis-type-2-in-a-pediatric-patient
#13
Kalindi Y Narine, Christopher C Oh, Herbert E Fuchs, David Van Mater
No abstract text is available yet for this article.
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130106/molecular-alterations-of-the-nf2-gene-in-hepatocellular-carcinoma-and-intrahepatic-cholangiocarcinoma
#14
Ning Zhang, Zhang Zhao, Jiang Long, Hai Li, Bei Zhang, Guangyong Chen, Xiaojin Li, Tingxia Lv, Wei Zhang, Xiaojuan Ou, Anjian Xu, Jian Huang
Neurofibromatosis type 2 with mutations in the neurofibromin 2 (NF2) gene, encoding the Merlin protein, is an autosomal dominant disorder characterized by enhanced cancer predisposition, particularly tumors of the central nervous system. Recent animal studies indicate that disruption of NF2/Merlin function in oval cells, which are hepatic progenitor cells, may lead to the development of primary liver cancers including hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC); however, its role in human primary liver cancer remains unclear...
December 2017: Oncology Reports
https://www.readbyqxmd.com/read/29125145/the-2017-doyne-lecture-the-orbit-as-a-window-to-systemic-disease
#15
REVIEW
A A McNab
A very large number of disorders affect the orbit, and many of these occur in the setting of systemic disease. This lecture covers selected aspects of orbital diseases with systemic associations in which the author has a particular clinical or research interest. Spontaneous orbital haemorrhage often occurs in the presence of bleeding diatheses. Thrombosis of orbital veins and ischaemic necrosis of orbital and ocular adnexal tissues occur with thrombophilic disorders, vasculitis, and certain bacterial and fungal infections...
November 10, 2017: Eye
https://www.readbyqxmd.com/read/29119071/sporadic-meningioangiomatosis-a-series-of-three-pediatric-cases
#16
Raja Anand, Richard J Garling, Janet Poulik, Marko Sabolich, Dylan J Goodrich, Sandeep Sood, Carolyn A Harris, Abilash Haridas
Meningioangiomatosis (MA) is a rare benign, hamartomatous lesion within the leptomeninges and cerebral cortex. Three percent of intractable epileptic patients with tumor develop MA. It may be accompanied with neurofibromatosis type II, or it may occur sporadically. Three patients, age range of 2-16 years old, presented with episodes of seizure. The patients demonstrated no family history or stigmata of neurofibromatosis type II. Electroencephalogram (EEG) was unremarkable for epileptiform activity. Magnetic resonance imaging (MRI) revealed enhancing lesions within the frontal gyrus, the anterior cingulate gyrus, and the parietal lobe...
September 1, 2017: Curēus
https://www.readbyqxmd.com/read/29118993/cellular-characteristics-of-keratin-19-positive-canine-hepatocellular-tumours-explain-its-aggressive-behaviour
#17
Renee G van Sprundel, Ted Sgam van den Ingh, Baukje A Schotanus, Monique E van Wolferen, Louis C Penning, Jan Rothuizen, Bart Spee
The expression of the hepatic progenitor cell marker keratin 19 (K19) in canine hepatocellular carcinomas is linked with a poor prognosis. To better understand this aggressive behaviour, K19-positive hepatocellular carcinomas (n=5) and K19-negative hepatocellular adenomas (n=6) were immunohistochemically stained for proteins involved in malignant tumour development. The K19-positive carcinomas showed marked positivity for platelet-derived growth factor receptor alpha polypeptide (PDGFRα), laminin, integrin beta-1/CD29, B-cell-specific Moloney murine leukaemia virus Integration site 1, glypican-3 (GPC-3) and prominin-1/CD133, in contrast with K19-negative hepatocellular adenomas...
2017: Veterinary Record Open
https://www.readbyqxmd.com/read/29117388/neurofibromatosis-type-1-associated-mpnst-state-of-the-science-outlining-a-research-agenda-for-the-future
#18
Karlyne M Reilly, AeRang Kim, Jaishri Blakely, Rosalie E Ferner, David H Gutmann, Eric Legius, Markku M Miettinen, R Lor Randall, Nancy Ratner, N L Jumbé, Annette Bakker, David Viskochil, Brigitte C Widemann, Douglas R Stewart
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma for which the only effective therapy is surgery. In 2016, an international meeting entitled "MPNST State of the Science: Outlining a Research Agenda for the Future" was convened to establish short- and long-term research priorities. Key recommendations included the: 1) development of standardized, cost-efficient fluorodeoxyglucose positron emission tomography and whole-body magnetic resonance imaging guidelines to evaluate masses concerning for MPNST; 2) development of better understanding and histologic criteria for the transformation of a plexiform neurofibroma to MPNST; 3) establishment of a centralized database to collect genetic, genomic, histologic, immunohistochemical, molecular, radiographic, treatment, and related clinical data from MPNST subspecialty centers in a standardized manner; 4) creation of accurate mouse models to study the plexiform neurofibroma-to-MPNST transition, MPNST metastasis, and drug resistance; 5) use of trial designs that minimize regulatory requirements, maximize availability to patients, consider novel secondary end points, and study patients with newly diagnosed disease...
August 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29115758/neurofibromatosis-and-the-role-of-the-specialist-adviser
#19
Carolyn Redman
Neurofibromatosis (NF) is a genetic condition that mainly involves the nervous system. There are two types: NF1 affects about one in 2,500 of the population worldwide and NF2 affects one in 35,000. Both types result in complex health problems for patients and can pose significant challenges for all those involved in their management. Established in 1981, The Neuro Foundation is a patient-focused charity that funds a network of specialist advisers who work in partnership with the NHS to offer support and advice for families affected by NF and the professionals who care for them...
September 11, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/29114437/magnetic-resonance-imaging-appearance-of-schwannomas-from-head-to-toe-a-pictorial-review
#20
Jamie Crist, Jacob R Hodge, Matthew Frick, Fiona P Leung, Eugene Hsu, Ming Tye Gi, Sudhakar K Venkatesh
Schwannomas are benign soft-tissue tumors that arise from peripheral nerve sheaths throughout the body and are commonly encountered in patients with neurofibromatosis Type 2. The vast majority of schwannomas are benign, with rare cases of malignant transformation reported. In this pictorial review, we discuss the magnetic resonance imaging (MRI) appearance of schwannomas by demonstrating a collection of tumors from different parts of the body that exhibit similar MRI characteristics. We review strategies to distinguish schwannomas from malignant soft-tissue tumors while exploring the anatomic and histologic origins of these tumors to discuss how this correlates with their imaging findings...
2017: Journal of Clinical Imaging Science
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