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https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#1
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#2
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28637487/the-nf1-somatic-mutational-landscape-in-sporadic-human-cancers
#3
REVIEW
Charlotte Philpott, Hannah Tovell, Ian M Frayling, David N Cooper, Meena Upadhyaya
BACKGROUND: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. NF1 exhibits variable clinical expression and is characterized by benign cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia...
June 21, 2017: Human Genomics
https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#4
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28631895/growth-hormone-excess-in-children-with-neurofibromatosis-type-1-and-optic-glioma
#5
Paola Cambiaso, Stefania Galassi, Melania Palmiero, Angela Mastronuzzi, Francesca Del Bufalo, Rossella Capolino, Antonella Cacchione, Paola S Buonuomo, Michaela V Gonfiantini, Andrea Bartuli, Marco Cappa, Marina Macchiaiolo
In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28629962/pharmacological-inhibition-of-anaplastic-lymphoma-kinase-rescues-spatial-memory-impairments-in-neurofibromatosis-1-mutant-mice
#6
Joseph B Weiss, Sydney Weber, Tessa Marzulla, Jacob Raber
Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations are found in 90% of patients with neurofibromatosis, a syndrome associated with disabling cognitive impairment. Drosophila studies have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 in cognitive performance. In addition, pharmacologic inhibition of Alk improves cognitive performance in heterozygous NF1 mutant flies. In this study, we tested whether pharmacological inhibition of Alk in heterozygous NF1 mutant mice attenuates or rescues cognitive impairments...
June 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28627810/development-of-emotional-and-behavioral-problems-in-neurofibromatosis-type-1-during-young-childhood
#7
André B Rietman, Rianne Oostenbrink, Kimberley van Noort, Marie-Christine J P Franken, Coriene E Catsman-Berrevoets, Femke K Aarsen, Jos G Hendriksen, Pieter F A de Nijs
This retrospective longitudinal study in young children with neurofibromatosis type 1 (NF1) aimed to identify if, and how early problems in behavior, intelligence, and language development are associated with later behavioral problems. At the first assessment at preschool age, we evaluated language skills, intelligence, and emotional and behavioral problems as reported by parents. The second assessment at school-age we evaluated intelligence, and emotional and behavioral problems as reported by parents and teachers...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28625904/subarachnoid-hemorrhage-due-to-distal-superior-cerebellar-artery-dissection-in-neurofibromatosis-type-1
#8
Yuki Takeshima, Yuki Ohmori, Takashi Nakagawa, Yasuyuki Kaku, Jun-Ichi Kuratsu, Shigetoshi Yano
BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare disease with an incidence of one in every 3000 births. Numerous studies have focused on the main function of NF1 as a tumor suppressor, while few have examined the cerebrovascular abnormalities observed in patients with NF1. It is worth noting that intracranial aneurysms are uncommon in this condition. CASE DESCRIPTION: We report a case of NF1 with a dissection of the distal segment of the superior cerebellar artery...
June 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28621617/intrathoracic-meningocele-associated-with-neurofibromatosis-type-1-and-a-novel-technique-for-surgical-repair-case-report
#9
Paramita Das, Tarini Goyal, Matthew A Hunt
Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Surgical interventions discussed in the literature include shunting the pseudomeningocele, primary repair with laminectomy, thoracoscopic plication, and reinforcement of the closure with cement, muscle, or fascia...
June 16, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28620005/cancer-and-central-nervous-system-tumor-surveillance-in-pediatric-neurofibromatosis-2-and-related-disorders
#10
REVIEW
D Gareth R Evans, Hector Salvador, Vivian Y Chang, Ayelet Erez, Stephan D Voss, Harriet Druker, Hamish S Scott, Uri Tabori
The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these conditions were inextricably tied together under generalized neurofibromatosis. In 1987, the localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q led to a consensus conference at Bethesda, Maryland. The two main neurofibromatoses, NF1 and NF2, were formally separated. More recently, the SMARCB1 and LZTR1 genes on 22q have been confirmed as causing a subset of schwannomatosis...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28620004/cancer-and-central-nervous-system-tumor-surveillance-in-pediatric-neurofibromatosis-1
#11
REVIEW
D Gareth R Evans, Hector Salvador, Vivian Y Chang, Ayelet Erez, Stephan D Voss, Kami Wolfe Schneider, Hamish S Scott, Sharon E Plon, Uri Tabori
Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28611304/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...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28608929/high-grade-serous-carcinomas-arise-in-the-mouse-oviduct-via-defects-linked-to-the-human-disease
#13
Yali Zhai, Rong Wu, Rork Kuick, Michael S Sessine, Stephanie Schulman, Megan Green, Eric R Fearon, Kathleen R Cho
Recent studies suggest that the most common and lethal type of "ovarian" cancer, high-grade serous carcinoma (HGSC), usually arises from epithelium on the fallopian tube fimbriae, and not from the ovarian surface epithelium (OSE). We have developed Ovgp1-iCreER(T2) mice in which the Ovgp1 promoter controls expression of tamoxifen (TAM)-regulated Cre recombinase in oviductal epithelium - the murine equivalent of human fallopian tube epithelium (FTE). We employed Ovgp1-iCreER(T2) mice to show that FTE-specific inactivation of several different combinations of tumour suppressor genes recurrently mutated in human HGSCs - namely Brca1, Trp53, Rb1, and Nf1 - results in serous tubal intraepithelial carcinomas (STICs) that progress to HGSC or carcinosarcoma, and to widely metastatic disease in a subset of mice...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28605748/characterization-of-the-phenotype-associated-with-microduplication-reciprocal-to-nf1-microdeletion-syndrome
#14
Elisa Tassano, Thea Giacomini, Mariasavina Severino, Alessandra Gamucci, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11...
June 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28605662/computerized-cognitive-training-for-children-with-neurofibromatosis-type-1-a-pilot-resting-state-fmri-study
#15
Yuliya N Yoncheva, Kristina K Hardy, Daniel J Lurie, Krishna Somandepalli, Lanbo Yang, Gilbert Vezina, Nadja Kadom, Roger J Packer, Michael P Milham, F Xavier Castellanos, Maria T Acosta
In this pilot study, we examined training effects of a computerized working memory program on resting state functional magnetic resonance imaging (fMRI) measures in children with neurofibromatosis type 1 (NF1). We contrasted pre- with post-training resting state fMRI and cognitive measures from 16 participants (nine males; 11.1 ± 2.3 years) with NF1 and documented working memory difficulties. Using non-parametric permutation test inference, we found significant regionally specific differences (family-wise error corrected) in two of four voxel-wise resting state measures: fractional amplitude of low frequency fluctuations (indexing peak-to-trough intensity of spontaneous oscillations) and regional homogeneity (indexing local intrinsic synchrony)...
June 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28598037/atypical-neurofibromatosis-type-1-with-unilateral-limb-hypertrophy-mimicking-overgrowth-syndrome
#16
K Tripolszki, K Farkas, A Sulák, G Szolnoky, B Duga, B Melegh, R G Knox, V E R Parker, R K Semple, L Kemény, M Széll, N Nagy
Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We present the case of a Hungarian woman with the clinical phenotype of NF1 over her whole body and the clinical features of unilateral overgrowth involving her entire left leg. This unusual phenotype suggested either the atypical form of NF1 or the coexistence of NF1 and overgrowth syndrome. Direct sequencing of the genomic DNA isolated from peripheral blood revealed a novel frameshift mutation (c...
June 8, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28595656/ros-production-induced-by-braf-inhibitor-treatment-rewires-metabolic-processes-affecting-cell-growth-of-melanoma-cells
#17
Giulia Cesi, Geoffroy Walbrecq, Andreas Zimmer, Stephanie Kreis, Claude Haan
BACKGROUND: Most melanoma patients with BRAF(V600E) positive tumors respond well to a combination of BRAF kinase and MEK inhibitors. However, some patients are intrinsically resistant while the majority of patients eventually develop drug resistance to the treatment. For patients insufficiently responding to BRAF and MEK inhibitors, there is an ongoing need for new treatment targets. Cellular metabolism is such a promising new target line: mutant BRAF(V600E) has been shown to affect the metabolism...
June 8, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28593402/clinical-presentation-and-prognostic-indicators-in-100-adults-and-children-with-neurofibromatosis-1-associated-non-optic-pathway-brain-gliomas
#18
Susan Byrne, Steve Connor, Karine Lascelles, Ata Siddiqui, Darren Hargrave, Rosalie E Ferner
Type 1 Neurofibromatosis (NF1) is a common autosomal dominant condition, with a major impact on the nervous system, eye, bone, and skin, and a predisposition to malignancy. At present it is not possible to predict clinically or on imaging, whether a brain tumour will remain indolent or undergo high-grade change. There are no consensus guidelines on the follow-up of non-optic pathway glioma (non-OPG) tumours in NF1. One hundred patients from the National NF1 Service with generalised NF1 and a diagnosis of non-OPG glioma were followed up for a median time of 63 months after glioma detection...
June 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28589254/characterisation-of-malignant-peripheral-nerve-sheath-tumours-in-neurofibromatosis-1-using-heterogeneity-analysis-of-18-f-fdg-pet
#19
Gary J R Cook, Eitan Lovat, Muhammad Siddique, Vicky Goh, Rosalie Ferner, Victoria S Warbey
PURPOSE: Measurement of heterogeneity in (18)F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET) images is reported to improve tumour phenotyping and response assessment in a number of cancers. We aimed to determine whether measurements of (18)F-FDG heterogeneity could improve differentiation of benign symptomatic neurofibromas from malignant peripheral nerve sheath tumours (MPNSTs). METHODS: (18)F-FDG PET data from a cohort of 54 patients (24 female, 30 male, mean age 35...
June 7, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28587874/neuropathies-in-the-setting-of-neurofibromatosis-tumor-syndromes-complexities-and-opportunities
#20
REVIEW
Alexander Schulz, Peter Grafe, Christian Hagel, Philipp Bäumer, Helen Morrison, Victor-Felix Mautner, Said Farschtschi
The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum...
June 3, 2017: Experimental Neurology
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