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Neurofibromatosis 1

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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/28815922/the-pregnancy-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#2
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
#3
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/28812461/soft-tissue-perineurioma-in-a-child-with-neurofibromatosis-type-1-a-case-report-and-review-of-the-literature
#4
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
#5
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/28808608/intrathecal-catheter-associated-inflammatory-mass-in-a-neurofibromatosis-type-1-patient-receiving-fentanyl-and-bupivacaine
#6
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
#7
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/28804759/updated-nomenclature-for-human-and-mouse-neurofibromatosis-type-1-genes
#8
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
#9
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/28798215/spinal-and-paraspinal-plexiform-neurofibromas-in-patients-with-neurofibromatosis-type-1-a-novel-scoring-system-for-radiological-clinical-correlation
#10
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
#11
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/28776749/psychosocial-functioning-self-image-and-quality-of-life-in-children-and-adolescents-with-neurofibromatosis-type-1
#12
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
https://www.readbyqxmd.com/read/28776579/significance-of-h3k27me3-loss-in-the-diagnosis-of-malignant-peripheral-nerve-sheath-tumors
#13
Melike Pekmezci, Areli K Cuevas-Ocampo, Arie Perry, Andrew E Horvai
The diagnosis of malignant peripheral nerve sheath tumors can be challenging and other spindle cell sarcomas commonly enter in the differential diagnosis. Loss of trimethylation at lysine 27 of histone-H3 (H3K27me3) by immunohistochemistry was recently described in malignant peripheral nerve sheath tumors. However, its specificity remains controversial. We therefore studied 82 synovial sarcomas, 39 malignant peripheral nerve sheath tumors, and 10 fibrosarcomatous dermatofibrosarcoma protuberans for H3K27me3 loss by immunohistochemistry...
August 4, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28771999/monitoring-of-plexiform-neurofibroma-in-children-and-adolescents-with-neurofibromatosis-type-1-by-18-f-fdg-pet-imaging-is-it-of-value-in-asymptomatic-patients
#14
Amedeo A Azizi, Irene Slavc, Benjamin Emile Theisen, Ivo Rausch, Michael Weber, Wolfgang Happak, Oskar Aszmann, Azadeh Hojreh, Andreas Peyrl, Gabriele Amann, Thomas M Benkoe, Wolfgang Wadsak, Gregor Kasprian, Anton Staudenherz, Marcus Hacker, Tatjana Traub-Weidinger
PURPOSE: About 10% of patients with neurofibromatosis type 1 (NF-1) develop malignant peripheral nerve sheath tumours (MPNST) mostly arising in plexiform neurofibroma (PN); 15% of MPNST arise in children and adolescents. 2-[(18) F]fluoro-2-deoxy-d-glucose ([(18) F]FDG)-PET (where PET is positron emission tomography) is a sensitive method in differentiating PN and MPNST in symptomatic patients with NF-1. This study assesses the value of [(18) F]FDG-PET imaging in detecting malignant transformation in symptomatic and asymptomatic children with PN...
August 3, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28767512/dissecting-the-role-of-the-crmp2-neurofibromin-complex-on-pain-behaviors
#15
Aubin Moutal, Yue Wang, Xiaofang Yang, Yingshi Ji, Shizhen Luo, Angie Dorame, Shreya S Bellampalli, Lindsey A Chew, Song Cai, Erik T Dustrude, James E Keener, Michael T Marty, Todd W Vanderah, Rajesh Khanna
Neurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or homozygous deletion of the Nf1 gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain. Omic studies on human NF1 tissues identified an increase in expression of collapsin response mediator protein 2 (CRMP2), a cytosolic protein reported to regulate the trafficking and activity of presynaptic N-type voltage-gated calcium (Cav2.2) channels. Since neurofibromin, the protein product of the Nf1 gene, binds to and inhibits CRMP2, the neurofibromin-CRMP2 signaling cascade will likely affect Ca2+ channel activity and regulate nociceptive neurotransmission and in vivo responses to noxious stimulation...
July 31, 2017: Pain
https://www.readbyqxmd.com/read/28767187/phenotype-analysis-of-congenital-and-neurodevelopmental-disorders-in-the-next-generation-sequencing-era
#16
John C Carey
The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years with the ongoing identification of human disease genes. The term has been defined as the observable constitution of an organism, but sometimes refers to a condition when a person has a particular clinical presentation. Analysis of phenotype is a timely theme because advances in the understanding of the genetic basis of human disease and the emergence of next generation sequencing have spurred a renewed interest in phenotype and the proposal to establish a "Human Phenome Project...
August 2, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28767180/improved-union-and-bone-strength-in-a-mouse-model-of-nf1-pseudarthrosis-treated-with-recombinant-human-bone-morphogenetic-protein-2-and-zoledronic-acid
#17
Nikita Deo, Tegan L Cheng, Kathy Mikulec, Lauren Peacock, David G Little, Aaron Schindeler
Tibial pseudarthrosis associated with Neurofibromatosis type 1 (NF1) is an orthopedic condition with consistently poor clinical outcomes. Using a murine model that features localized double inactivation of the Nf1 gene in an experimental tibial fracture, we tested the effects of recombinant human bone morphogenetic protein-2 (rhBMP-2) and/or the bisphosphonate zoledronic acid (ZA). Tibiae were harvested at 3 weeks for analysis, at which time there was negligible healing in un-treated control fractures (7% union)...
August 2, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28764992/impact-on-gaba-systems-in-monogenetic-developmental-cns-disorders-clues-to-symptomatic-treatment
#18
REVIEW
Dietmar Benke, Hanns Möhler
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations...
July 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28759666/association-of-genetic-predisposition-with-solitary-schwannoma-or-meningioma-in-children-and-young-adults
#19
Omar N Pathmanaban, Katherine V Sadler, Ian D Kamaly-Asl, Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Martin G McCabe, John-Paul Kilday, Christian Beetz, Nicola K Poplawski, D Gareth Evans, Miriam J Smith
Importance: Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years and are rare in children and young adults. Multiple schwannomas and/or meningiomas are more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not. Nevertheless, apparently sporadic tumors in young patients may herald a genetic syndrome. Objective: To determine the frequency of the known heritable meningioma- or schwannoma-predisposing mutations in children and young adults presenting with a solitary meningioma or schwannoma...
July 31, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28759521/68ga-psma-uptake-in-neurofibromas-demonstrated-on-pet-ct-in-a-patient-with-neurofibromatosis-type-1
#20
Brook Gulhane, Stuart Ramsay, William Fong
We present a case of Ga-PSMA PET/CT imaging of PSMA expression in neurofibromas in a patient with neurofibromatosis type 1 (or von Recklinghausen disease). PSMA uptake has previously been demonstrated in schwannomas both with PET and histological staining. The presented images confirm that PSMA expression in cutaneous neurofibromas can be well imaged with PET, with uptake mostly at relatively low levels. Interestingly, some lesions demonstrated significantly higher PSMA expression, although the clinical significance of these differences remains to be determined...
July 29, 2017: Clinical Nuclear Medicine
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