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Neurofibromatosis type 1

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https://www.readbyqxmd.com/read/28934393/neurofibromatosis-type-1-alternative-splicing-is-a-key-regulator-of-ras-erk-signaling-and-learning-behaviors-in-mice
#1
Hieu T Nguyen, Melissa N Hinman, Xuan Guo, Alok Sharma, Hiroyuki Arakawa, Guangbin Luo, Hua Lou
Appropriate activation of the Ras/extracellular signal-regulated kinase (ERK) protein signaling cascade within the brain is crucial for optimal learning and memory. One key regulator of this cascade is the Nf1 Ras GTPase activating protein (RasGAP), which attenuates Ras/ERK signaling by converting active Ras is bound to guanosine triphosphate, activating Ras into inactive Ras is bound to guanosine diphosphate, inactivating Ras. A previous study using embryonic stem cells and embryonic stem cell-derived neurons indicated that Nf1 RasGAP activity is modulated by the highly regulated alternative splicing of Nf1 exon 23a...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28932379/testing-the-excitation-inhibition-imbalance-hypothesis-in-a-mouse-model-of-the-autism-spectrum-disorder-in-vivo-neurospectroscopy-and-molecular-evidence-for-regional-phenotypes
#2
Joana Gonçalves, Inês R Violante, José Sereno, Ricardo A Leitão, Ying Cai, Antero Abrunhosa, Ana Paula Silva, Alcino J Silva, Miguel Castelo-Branco
BACKGROUND: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to isolate mechanisms underlying ASD-related cognitive disabilities. However, the NF1 mouse model showed increased γ-aminobutyric acid (GABA) neurotransmission, whereas the human disease showed reduced cortical GABA levels...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#3
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
September 20, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28927324/parasagittal-meningioma-a-not-so-benign-entity
#4
Roger W Byard
While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28919049/perioperative-outcomes-of-syndromic-paraganglioma-and-pheochromocytoma-resection-in-patients-with-von-hippel-lindau-disease-multiple-endocrine-neoplasia-type-2-or-neurofibromatosis-type-1
#5
James J Butz, Qi Yan, Travis J McKenzie, Toby N Weingarten, Alexandre N Cavalcante, Irina Bancos, William F Young, Darrell R Schroeder, David P Martin, Juraj Sprung
BACKGROUND: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. METHODS: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. RESULTS: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19)...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28906098/anemic-nevus-is-a-new-diagnostic-criterion-for-neurofibromatosis-type-1
#6
Gianluca Tadini, Michela Brena
No abstract text is available yet for this article.
October 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28906096/becker-s-nevus-in-neurofibromatosis-type-1-a-single-center-experience-in-italy
#7
Emanuele Miraglia, Chiara Iacovino, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
October 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28906094/retinitis-pigmentosa-an-unusual-ocular-manifestation-in-a-patient-with-neurofibromatosis-type-1
#8
Emanuele Miraglia, Antonietta Moramarco, Daniela Bianchini, Chiara Iacovino, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
October 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28891274/breast-cancer-risk-and-germline-genomic-profiling-of-women-with-neurofibromatosis-type-1-who-developed-breast-cancer
#9
Xia Wang, Jamie K Teer, Renee N Tousignant, Albert M Levin, David Boulware, Dhananjay A Chitale, Brandon M Shaw, Zhihua Chen, Yonghong Zhang, Jaishri O Blakeley, Maria T Acosta, Ludwine M Messiaen, Bruce R Korf, Michael A Tainsky
NF1 mutations predispose to neurofibromatosis type1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exon sequencing (WES), targeted genomic DNA based and RNA based analysis of the NF1 gene...
September 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28891076/natural-course-and-characteristics-of-cutaneous-neurofibromas-in-neurofibromatosis-1
#10
Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida
Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and characteristics of cutaneous neurofibromas, a retrospective study was conducted for 57 NF1 patients who were treated at the Department of Dermatology of Tottori University Hospital between January 2007 and April 2016. For each patient, we investigated the time-dependent changes and the numbers of cutaneous neurofibromas in four body surface regions...
September 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28885122/clinicopathological-variables-of-sporadic-schwannomas-of-peripheral-nerve-in-291-patients-and-expression-of-biologically-relevant-markers
#11
Eric D Young, Davis Ingram, William Metcalf-Doetsch, Dilshad Khan, Ghadah Al Sannaa, Francois Le Loarer, Alexander J F Lazar, John Slopis, Keila E Torres, Dina Lev, Raphael E Pollock, Ian E McCutcheon
OBJECTIVE While sporadic peripheral schwannomas (SPSs) are generally well treated with surgery, their biology is not well understood. Consequently, treatment options are limited. The aim of this study was to provide a comprehensive description of SPS. The authors describe clinicopathological features and treatment outcomes of patients harboring these tumors, and they assess expression of biomarkers using a clinically annotated tissue microarray. Together, these data give new insight into the biology and management of SPS...
September 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28881745/whole-tumor-rna-sequencing-and-deconvolution-reveal-a-clinically-prognostic-pten-pi3k-regulated-glioma-transcriptional-signature
#12
Yuan Pan, Erin C Bush, Joseph A Toonen, Yu Ma, Anne C Solga, Peter A Sims, David H Gutmann
The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression. While less studied, brain tumor (glioma) biology is likewise influenced by non-neoplastic immune system cells (macrophages and microglia) which interact with neoplastic glioma cells to create a unique physiological state (glioma ecosystem) distinct from that found in the normal tissue...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28870819/-type-1-neurofibromatosis-onset-of-two-tumors-before-the-age-of-5years
#13
M Remillieux, C Durand, H Sartelet, C Piolat, E Bourgeois, P Pommier, F Hameury, K Dieterich, D Vidaud, C Perret
Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Neurofibroma is the most frequent benign tumor. It can be very invalidating depending on the size and location of the tumor...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28868283/uveal-ganglioneuroma-due-to-germline-pten-mutation-cowden-syndrome-presenting-as-unilateral-infantile-glaucoma
#14
Sarah W DeParis, Michele Bloomer, Ying Han, M Reza Vagefi, Joseph T C Shieh, David A Solomon, James Grenert, Alejandra G de Alba Campomanes
PURPOSE: Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome. PROCEDURES: A 5-year-old girl with unilateral refractory glaucoma secondary to diffuse iris and choroidal thickening developed a blind, painful eye. Enucleation was performed, and histopathology revealed infiltration of the entire uveal tract by neoplastic spindle cells containing admixed ganglion cells diagnostic of uveal ganglioneuroma...
July 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/28862263/neurofibromin-c-terminus-specific-antibody-clone-nfc-is-a-valuable-tool-for-the-identification-of-nf1-inactivated-gists
#15
Sabrina Rossi, Daniela Gasparotto, Matilde Cacciatore, Marta Sbaraglia, Alessia Mondello, Maurizio Polano, Alessandra Mandolesi, Alessandro Gronchi, David E Reuss, Andreas von Deimling, Roberta Maestro, Angelo Paolo Dei Tos
An increasing body of evidence supports the involvement of NF1 mutations, constitutional or somatic, in the pathogenesis of gastrointestinal stromal tumors (GISTs). Due to the large size of the NF1 locus, the existence of multiple pseudogenes and the wide spectrum of mechanisms of gene inactivation, the analysis of NF1 gene status is still challenging for most laboratories. Here we sought to assess the efficacy of a recently developed neurofibromin-specific antibody (NFC) in detecting NF1-inactivated GISTs...
September 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28860858/increased-risk-of-breast-cancer-in-neurofibromatosis-type-1-current-insights
#16
REVIEW
Sacha J Howell, Kimberley Hockenhull, Zena Salih, D Gareth Evans
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by mutation/deletion of the NF1 gene. The gene product, neurofibromin, is a tumor suppressor which represses the activity of the Ras oncogene. Central nervous system (CNS) tumors have long been associated with NF1, but their association with several other malignancies has been demonstrated. In this review, we summarize the epidemiological data that irrefutably support a link between NF1 and an increased risk of early-onset breast cancer, to levels at which annual mammography is currently recommended in national high-risk screening programs...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28859862/the-promise-of-signal-transduction-in-genetically-driven-sarcomas-of-the-nerve
#17
REVIEW
AeRang Kim, Christine A Pratilas
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome. Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue sarcomas arising from peripheral nerve sheaths, and the most commonly lethal feature associated with NF1. The hallmark of NF1 and NF1-related MPNST is the loss of neurofibromin expression. Loss of neurofibromin is considered a tumor-promoting event, and leads to constitutive activation of RAS and its downstream effectors. However, RAS activation alone is not sufficient for MPNST formation, and additional tumor suppressors and signaling pathways have been implicated in tumorigenesis of MPNST...
August 28, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28853219/numerical-activities-of-daily-living-in-adults-with-neurofibromatosis-type-1
#18
F Burgio, S Benavides-Varela, G Arcara, E Trevisson, D Frizziero, M Clementi, C Semenza
BACKGROUND: This study aimed to identify the mathematical domains affected in adults with neurofibromatosis 1 (NF1) and the impact of the numerical difficulties on the patients' activities of daily living. METHODS: We assessed 28 adult patients with NF1 and 28 healthy control participants. All participants completed the standardised battery of numerical activities of daily living along with clinical batteries of cognitive (Mini-Mental State Examination) and daily functioning (instrumental activities of daily living)...
August 29, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28852451/neurofibromatosis-type-1-and-male-breast-cancer-emerging-risk-factor
#19
Nolan Mann, Truong Ma, Arthur Dalton
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the appearance of cafe au lait spots, neurofibromas and Lisch nodules. There is an established link between NF1 and the development of breast cancer in women; however, due to the rarity of both NF1 and male breast cancer, the same link has yet to be elucidated in men. The concurrent presentation of NF1 and male breast cancer is a very rare phenomenon with only a handful of case descriptions in the literature. To the best of our knowledge, there have only been four other reported cases of NF1 and male breast cancer before ours...
July 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28851321/rare-triad-of-periampullary-carcinoid-duodenal-gastrointestinal-stromal-tumor-and-plexiform-neurofibroma-at-hepatic-hilum-in-neurofibromatosis-type-1-a-case-report
#20
Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
BACKGROUND: Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare. CASE PRESENTATION: A 66-year-old lady with neurofibromatosis type 1 presented with painless progressive jaundice for six months...
August 29, 2017: BMC Cancer
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