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https://www.readbyqxmd.com/read/28747691/the-absence-that-makes-the-difference-choroidal-abnormalities-in-legius-syndrome
#1
Arianna Tucci, Veronica Saletti, Francesca Menni, Claudia Cesaretti, Giulietta Scuvera, Silvia Esposito, Giulia Melloni, Susanna Esposito, Donatella Milani, Cristina Cereda, Mario Cigada, Laura Tresoldi, Francesco Viola, Federica Natacci
Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1...
July 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28736755/risky-decision-making-in-neurofibromatosis-type-1-an-exploratory-study
#2
Rachel K Jonas, EunJi Roh, Caroline A Montojo, Laura A Pacheco, Tena Rosser, Alcino J Silva, Carrie E Bearden
BACKGROUND: Neurofibromatosis type 1 (NF1) is a monogenic disorder affecting cognitive function. About one third of children with NF1 have attentional disorders, and the cognitive phenotype is characterized by impairment in prefrontally-mediated functions. Mouse models of NF1 show irregularities in GABA release and striatal dopamine metabolism. We hypothesized that youth with NF1 would show abnormal behavior and neural activity on a task of risk-taking reliant on prefrontal-striatal circuits...
March 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/28735371/identifying-symptoms-of-distress-in-youth-living-with-neurofibromatosis-type-1-nf1
#3
Lori Wiener, Haven Battles, Sima Zadeh Bedoya, Andrea Baldwin, Brigitte C Widemann, Maryland Pao
Children and adolescents with Neurofibromatosis type 1 (NF1) are at increased risk for wide-ranging behavioral, developmental, and cognitive impairments and decreased quality of life. To date, no psychosocial screening tool has been developed to quickly assess the symptoms that 1) can be addressed during routine medical appointments in children with NF1, 2) can produce interpretable and actionable results, 3) can be integrated into medical care, and 4) can quickly identify patients at risk in order to better address that the provision of appropriate care are available...
July 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28735128/a-ct-based-comparison-of-abnormal-vertebrae-pedicles-between-dystrophic-and-nondystrophic-scoliosis-in-neurofibromatosis-type-1
#4
Ying Li, Ming Luo, Wengang Wang, Mingkui Shen, Genzhong Xu, Jianbo Gao, Lei Xia
OBJECTIVE: To explore the prevalence and distribution of abnormal vertebral pedicles in scoliosis secondary to neurofibromatosis type 1 (NF1-S) and to compare the abnormal vertebrae pedicles between dystrophic and nondystrophic scoliosis. METHODS: We carefully measured 2,652 vertebral pedicles from 56 NF1-S patients with dystrophic scoliosis and 22 NF1-S patients with nondystrophic scoliosis using CT images. Pedicle morphology was classified as follows: type A, a cancellous channel of > 4 mm; type B, a cancellous channel of 2 to 4 mm; type C, a cancellous channel of < 2 mm with an entirely cortical channel of ≥ 2 mm; type D, a cortical channel of < 2 mm; or type E, absent pedicle...
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28734009/kit-mutations-and-cd117-overexpression-are-markers-of-better-progression-free-survival-in-vulvar-melanomas
#5
D Dias-Santagata, M A Selim, Y Su, Y Peng, R Vollmer, A Chłopik, G T Marti, K Paral, S Shalin, C R Shea, S Puig, M T Fernandez-Figueras, W Biernat, J Ryś, A Marszalek, M P Hoang
BACKGROUND: Few studies have addressed prognostic markers and none has correlated molecular status and prognosis in vulvar melanomas. OBJECTIVES AND METHODS: We evaluated the clinicopathologic features of 95 cases. p53, CD117, Ki-67, neurofibromin, brafv600e, and nrasq61r immunostains; and molecular analyses by either targeted next generation or direct sequencing were performed on available archival materials. RESULTS: Molecular testing detected mutations in KIT (44%), BRAF (25%), NF1 (22%), TP53 (17%), NRAS (9%), and TERT promoter (9%)...
July 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28725547/spatial-working-memory-in-neurofibromatosis-1-altered-neural-activity-and-functional-connectivity
#6
Amira F A Ibrahim, Caroline A Montojo, Kristen M Haut, Katherine H Karlsgodt, Laura Hansen, Eliza Congdon, Tena Rosser, Robert M Bilder, Alcino J Silva, Carrie E Bearden
BACKGROUND: Neurofibromatosis Type 1 (NF1) is a genetic disorder that disrupts central nervous system development and neuronal function. Cognitively, NF1 is characterized by difficulties with executive control and visuospatial abilities. Little is known about the neural substrates underlying these deficits. The current study utilized Blood-Oxygen-Level-Dependent (BOLD) functional MRI (fMRI) to explore the neural correlates of spatial working memory (WM) deficits in patients with NF1. METHODS: BOLD images were acquired from 23 adults with NF1 (age M = 32...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28706617/rare-presentation-of-neurofibromatosis-and-turner-syndrome-in-a-pediatric-patient
#7
Natalie Gengel, Ian Marshall
Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705289/association-of-piebaldism-with-caf%C3%A3-au-lait-macules
#8
Naveen Kumar Kansal, Saurabh Agarwal
A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a)...
2017: Skinmed
https://www.readbyqxmd.com/read/28702341/severe-dyspnea-in-a-patient-with-neurofibromatosis-type-1
#9
P B Poble, J C Dalphin, B Degano
Neurofibromatosis type 1 (NF1) is a genetic disease in which pulmonary complications are rare, but severe, especially pulmonary hypertension (PH). The mechanisms underlying the onset of PH in patients with NF1 are unclear and might be multifactorial. In particular, the frequent presence of pulmonary parenchymal lesions makes etiological diagnosis of PH difficult. We describe here the case of a patient with NF1 admitted to our clinic with dyspnea and right heart failure revealing severe pre-capillary PH. Parenchymal lesions were mild and PH was attributed to pulmonary vascular involvement...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28699883/familial-melanoma-astrocytoma-syndrome-synchronous-diffuse-astrocytoma-and-pleomorphic-xanthoastrocytoma-in-a-patient-with-germline-cdkn2a-b-deletion-and-a-significant-family-history
#10
Andrew K Chan, Seunggu J Han, Winward Choy, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart from the germline CDKN2A inactivation...
July 12, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28699658/telomere-length-and-somatic-mutations-in-correlation-with-response-to-immunosuppressive-treatment-in-aplastic-anaemia
#11
Hee S Park, Si N Park, Kyongok Im, Sung-Min Kim, Jung-Ah Kim, Sang M Hwang, Dong S Lee
We investigated the frequencies of cytogenetic aberrations and somatic mutations of prognostic relevance in 393 patients with aplastic anaemia (AA). Clonality was determined by G-banding/fluorescence in situ hybridization (FISH) (n = 245), and targeted capture sequencing was performed for 88 haematopoiesis-related genes (n = 70). The telomere length (TL) of bone marrow nucleated cells was measured at the single cell level by FISH (n = 135). Eighteen (4·6%) patients showed disease progression, and monosomy 7 (50·0%) was the most predominant cytogenetic evolution at disease transformation...
July 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28697342/tumor-evolution-of-glioma-intrinsic-gene-expression-subtypes-associates-with-immunological-changes-in-the-microenvironment
#12
Qianghu Wang, Baoli Hu, Xin Hu, Hoon Kim, Massimo Squatrito, Lisa Scarpace, Ana C deCarvalho, Sali Lyu, Pengping Li, Yan Li, Floris Barthel, Hee Jin Cho, Yu-Hsi Lin, Nikunj Satani, Emmanuel Martinez-Ledesma, Siyuan Zheng, Edward Chang, Charles-Etienne Gabriel Sauvé, Adriana Olar, Zheng D Lan, Gaetano Finocchiaro, Joanna J Phillips, Mitchel S Berger, Konrad R Gabrusiewicz, Guocan Wang, Eskil Eskilsson, Jian Hu, Tom Mikkelsen, Ronald A DePinho, Florian Muller, Amy B Heimberger, Erik P Sulman, Do-Hyun Nam, Roel G W Verhaak
We leveraged IDH wild-type glioblastomas, derivative neurospheres, and single-cell gene expression profiles to define three tumor-intrinsic transcriptional subtypes designated as proneural, mesenchymal, and classical. Transcriptomic subtype multiplicity correlated with increased intratumoral heterogeneity and presence of tumor microenvironment. In silico cell sorting identified macrophages/microglia, CD4(+) T lymphocytes, and neutrophils in the glioma microenvironment. NF1 deficiency resulted in increased tumor-associated macrophages/microglia infiltration...
July 10, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28694401/type-1-neurofibromatosis-complicated-by-pulmonary-arterial-hypertension-a-case-report
#13
Murathan Küçük, Can Ramazan Öncel, Mustafa Uçar, Aytül Belgi Yıldırım
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course of NF1. Presently described is a case of neurofibromatosis complicated by pulmonary hypertension.
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28694326/genomic-analysis-of-220-ctcls-identifies-a-novel-recurrent-gain-of-function-alteration-in-rltpr-p-q575e
#14
Joonhee Park, Jingyi Yang, Alexander T Wenzel, Akshaya Ramachandran, Wung J Lee, Jay C Daniels, Juhyun Kim, Estela Martinez-Escala, Nduka Amankulor, Barbara Pro, Joan Guitart, Marc L Mendillo, Jeffrey N Savas, Titus J Boggon, Jaehyuk Choi
Cutaneous T cell lymphoma (CTCL) is an incurable non-Hodgkin lymphoma of the skin-homing T cell. In early stage disease, lesions are limited to the skin, but in later stage disease, the tumor cells can escape into the blood, the lymph nodes, and at times the visceral organs. To clarify the genomic basis of CTCL, we performed genomic analysis of 220 CTCLs. Our analyses identify 55 putative driver genes, including 17 genes not previously implicated in CTCL. These novel mutations are predicted to affect chromatin (BCOR, KDM6A, SMARCB1, TRRAP), immune surveillance (CD58, RFXAP), MAPK signaling (MAP2K1, NF1), NF-κB signaling (PRKCB, CSNK1A1), PI-3-Kinase signaling (PIK3R1, VAV1), RHOA/cytoskeleton remodeling (ARHGEF3), RNA-splicing (U2AF1), T cell receptor signaling (PTPRN2, RLTPR), and T cell differentiation (RARA)...
July 10, 2017: Blood
https://www.readbyqxmd.com/read/28690538/cutaneous-neurofibroma-of-the-lacrimal-caruncule-a-case-report
#15
Mario Motta, Mauro Geller, Cesar Motta
We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28686119/management-of-peripheral-nerve-sheath-tumors-17-years-of-experience-at-toronto-western-hospital
#16
Daipayan Guha, Benjamin Davidson, Mustafa Nadi, Naif M Alotaibi, Michael G Fehlings, Fred Gentili, Taufik A Valiante, Charles H Tator, Michael Tymianski, Abhijit Guha, Gelareh Zadeh
OBJECTIVE A surgical series of 201 benign and malignant peripheral nerve sheath tumors (PNSTs) was assessed to characterize the anatomical and clinical presentation of tumors and identify predictors of neurological outcome, recurrence, and extent of resection. METHODS All surgically treated PNSTs from the Division of Neurosurgery at Toronto Western Hospital from 1993 to 2010 were reviewed retrospectively. Data were collected on patient demographics, clinical presentation, surgical technique, extent of resection, postoperative neurological outcomes, and recurrence...
July 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28680740/haploinsufficient-tumor-suppressor-genes
#17
Kazushi Inoue, Elizabeth A Fry
Haploinsufficiency of tumor suppressor genes (TSGs) indicates that the reduced levels of proteins in cells that lack one allele of the genomic locus results in the inability of the cell to execute normal cellular functions contributing to tumor development. Representative cases of haploinsufficient TSGs are p27(Kip1), p53, DMP1, NF1, and PTEN. Tumor development is significantly accelerated in both mice with homozygous and heterozygous gene deletion, with expression of the wild type allele in the latter. Newly characterized TSGs such as AML1, EGR1, TGFβR1/2, and SMAD4 have also shown haploid insufficiency for tumor suppression...
2017: Advances in Medicine and Biology
https://www.readbyqxmd.com/read/28674264/a-rare-case-of-ulcerative-colitis-with-neurofibromatosis-type-1
#18
Shuhei Fukunaga, Hidetoshi Takedatsu, Keiichi Mitsuyama, Takuji Torimura
Concomitant association of histologically proven inflammatory bowel disease (IBD) and neurofibromatosis type 1 (NF1) is a rare finding documented in only 5 adult clinical cases. A 34-year-old woman with known neurofibromatosis was admitted to our department with a 6-month history of intractable bloody diarrhea and abdominal pain. After a thorough clinical examination and paraclinical assessments, including colonoscopy and biopsy, ulcerative colitis (UC) was confirmed as the cause of gastrointestinal bleeding...
July 3, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28673309/abnormal-circadian-oscillation-of-hippocampal-mapk-activity-and-power-spectrums-in-nf1-mutant-mice
#19
Lei Chen, Tatiana Serdyuk, Beimeng Yang, Shuai Wang, Shiqing Chen, Xixia Chu, Xu Zhang, Jinjing Song, Hechen Bao, Chengbin Zhou, Xiang Wang, Shuangle Dong, Lulu Song, Fujun Chen, Guang He, Lin He, Ying Zhou, Weidong Li
Studies have implied that the circadian oscillation of mitogen-activated protein kinase (MAPK) signal pathways is crucial for hippocampus-dependent memory. NF1 mouse models (Nf1 heterozygous null mutants; Nf1 (+/-)) displayed enhanced MAPK activity in the hippocampus and resulted in memory deficits. We assumed a link between MAPK pathways and hippocampal rhythmic oscillations, which have never been explored in Nf1 (+/-) mice. We demonstrated that the level of extracellular signal-regulated kinases 1 and 2 (ERK1/2) phosphorylation in Nf1 (+/-) mice were significantly higher at nighttime than at daytime...
July 3, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28660485/crmp2-phosphorylation-drives-glioblastoma-cell-proliferation
#20
Aubin Moutal, Lex Salas Villa, Seul Ki Yeon, Kyle T Householder, Ki Duk Park, Rachael W Sirianni, Rajesh Khanna
Glioblastoma (GBM) is an aggressive primary brain tumor. The rapid growth and the privileged provenance of the tumor within the brain contribute to its aggressivity and poor therapeutic targeting. A poor prognostic factor in glioblastoma is the deletion or mutation of the Nf1 gene. This gene codes for the protein neurofibromin, a tumor suppressor gene that is known to interact with the collapsin response mediator protein 2 (CRMP2). CRMP2 expression and elevated expression of nuclear phosphorylated CRMP2 have recently been implicated in cancer progression...
June 28, 2017: Molecular Neurobiology
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