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https://www.readbyqxmd.com/read/29332262/tumor-expression-of-survivin-p53-cyclin-d1-osteopontin-and-fibronectin-in-predicting-the-response-to-neo-adjuvant-chemotherapy-in-children-with-advanced-malignant-peripheral-nerve-sheath-tumor
#1
Gabrielle Karpinsky, Malgorzata A Krawczyk, Ewa Izycka-Swieszewska, Aleksandra Fatyga, Agnieszka Budka, Walentyna Balwierz, Grazyna Sobol, Beata Zalewska-Szewczyk, Magdalena Rychlowska-Pruszynska, Teresa Klepacka, Bozenna Dembowska-Baginska, Bernarda Kazanowska, Anna Gabrych, Ewa Bien
PURPOSE: Selected cell-cycle regulators and extracellular matrix proteins were found to play roles in malignant peripheral nerve sheath tumor (MPNST) biology. We aimed to analyze whether initial tumor tissue expressions of survivin, p53, cyclin D1, osteopontin (OPN) and fibronectin (FN) correlate with the response to neo-adjuvant CHT (naCHT) in children with advanced inoperable MPNST. METHODS: The study included 26 children with MPNST (M/F 14/12, median age 130 months) treated in Polish centers of pediatric oncology between 1992 and 2013...
January 13, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29326119/association-of-mutations-with-morphologic-dysplasia-in-de-novo-acute-myeloid-leukemia-without-2016-who-classification-defined-cytogenetic-abnormalities
#2
Olga K Weinberg, Christopher J Gibson, Traci M Blonquist, Donna Neuberg, Olga Pozdnyakova, Frank Kuo, Benjamin L Ebert, Robert P Hasserjian
Despite improvements in our understanding of the molecular basis of acute myeloid leukemia, the association between genetic mutations with morphologic dysplasia remains unclear. In this study, we evaluated and scored dysplasia in bone marrow specimens from 168 patients with de novo acute myeloid leukemia; none of these patients had 2016 WHO Classification-defined cytogenetic abnormalities. We then performed targeted sequencing of diagnostic bone marrow aspirates for recurrent mutations associated with myeloid malignancies...
January 11, 2018: Haematologica
https://www.readbyqxmd.com/read/29320474/high-response-rate-to-pd-1-blockade-in-desmoplastic-melanomas
#3
Zeynep Eroglu, Jesse M Zaretsky, Siwen Hu-Lieskovan, Dae Won Kim, Alain Algazi, Douglas B Johnson, Elizabeth Liniker, Ben Kong, Rodrigo Munhoz, Suthee Rapisuwon, Pier Federico Gherardini, Bartosz Chmielowski, Xiaoyan Wang, I Peter Shintaku, Cody Wei, Jeffrey A Sosman, Richard W Joseph, Michael A Postow, Matteo S Carlino, Wen-Jen Hwu, Richard A Scolyer, Jane Messina, Alistair J Cochran, Georgina V Long, Antoni Ribas
Desmoplastic melanoma is a rare subtype of melanoma characterized by dense fibrous stroma, resistance to chemotherapy and a lack of actionable driver mutations, and is highly associated with ultraviolet light-induced DNA damage. We analysed sixty patients with advanced desmoplastic melanoma who had been treated with antibodies to block programmed cell death 1 (PD-1) or PD-1 ligand (PD-L1). Objective tumour responses were observed in forty-two of the sixty patients (70%; 95% confidence interval 57-81%), including nineteen patients (32%) with a complete response...
January 10, 2018: Nature
https://www.readbyqxmd.com/read/29318935/psychosocial-features-of-neurofibromatosis-type-1-in-children-and-adolescents
#4
Vincent Domon-Archambault, Louise Gagnon, Amélie Benoît, Sébastien Perreault
Neurofibromatosis type 1 (NF1) is a common neurologic condition associated with a wide variety of developmental deficits that have an important impact on children and adolescents. OBJECTIVE: This article aims to document the psychosocial features of NF1 and to report the interventions described to address the needs of pediatric patients with NF1. METHODS: A literature review was conducted concerning the social life, mental health, and quality of life (QOL) of children and adolescents with NF1 as well as the psychosocial interventions addressed to this population...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29309298/clarifying-the-distinction-between-malignant-peripheral-nerve-sheath-tumor-and-dedifferentiated-liposarcoma-a-critical-reappraisal-of-the-diagnostic-utility-of-mdm2-and-h3k27me3-status
#5
Naohiro Makise, Masaya Sekimizu, Takashi Kubo, Susumu Wakai, Nobuyoshi Hiraoka, Motokiyo Komiyama, Masashi Fukayama, Akira Kawai, Hitoshi Ichikawa, Akihiko Yoshida
Malignant peripheral nerve sheath tumor (MPNST) and dedifferentiated liposarcoma (DDLPS) are 2 major types of pleomorphic spindle cell sarcoma. The differentiation of MPNST and DDLPS by histomorphology alone can be problematic. Although MDM2 amplification and PRC2 alteration leading to H3K27me3 deficiency are genetic hallmarks of DDLPS and MPNST, respectively, a small number of MDM2-amplified MPNSTs and H3K27me3-deficient DDLPSs have been reported in the literature. We systematically compared MDM2 and H3K27me3 status in 68 MPNSTs and 47 DDLPSs...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29305273/adult-onset-hemorrhagic-quasi-moyamoya-disease-with-unilateral-steno-occlusive-lesion-in-a-patient-with-neurofibromatosis-type-1
#6
Yusuke S Hori, Yuki Ebisudani, Mizuho Aoi, Toru Fukuhara
BACKGROUND: Quasi-moyamoya disease is a condition that occurs in association with a specific underlying condition or disease such as atherosclerotic disease or neurofibromatosis type 1 (NF1). Pediatric cases are frequently reported, and an ischemic and bilateral presentation is more common than a hemorrhagic and unilateral presentation. CLINICAL PRESENTATION: A 39-year-old woman previously diagnosed with NF1 presented to our department with nausea and left hemiparesis...
January 2, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29299512/head-and-neck-paragangliomas-a-two-decade-institutional-experience-and-algorithm-for-management
#7
Joshua D Smith, Rachel N Harvey, Owen A Darr, Mark E Prince, Carol R Bradford, Gregory T Wolf, Tobias Else, Gregory J Basura
Objectives: Paragangliomas of the head and neck and cranial base are typically benign, slow-growing tumors arising within the jugular foramen, middle ear, carotid bifurcation, or vagus nerve proper. The objective of this study was to provide a comprehensive characterization of our institutional experience with clinical management of these tumors and posit an algorithm for diagnostic evaluation and treatment. Methods: This was a retrospective cohort study of patients undergoing treatment for paragangliomas of the head and neck and cranial base at our institution from 2000-2017...
December 2017: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/29290338/genotype-phenotype-correlation-in-nf1-evidence-for-a-more-severe-phenotype-associated-with-missense-mutations-affecting-nf1-codons-844-848
#8
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, Troy A Becker, Shay Ben-Shachar, Debora R Bertola, Jaishri O Blakeley, Emma M M Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S Cunha, Mitch Cunningham, Maria D D'Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D Gareth R Evans, Patricia Galvin-Parton, Jaya K George-Abraham, Karen W Gripp, Jose Guevara-Campos, Neil A Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J Jones, Beth A Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W Stockton, Eva Trevisson, Nicole J Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R Korf, Eric Legius, Ludwine M Messiaen
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD)...
December 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29290016/near-infrared-imaging-an-in-vivo-non-invasive-diagnostic-tool-in-neurofibromatosis-type-1
#9
Antonietta Moramarco, Sandra Giustini, Italo Nofroni, Fabiana Mallone, Emanuele Miraglia, Chiara Iacovino, Stefano Calvieri, Alessandro Lambiase
PURPOSE: Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes. METHODS: This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT...
December 30, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29288991/nerve-ultrasound-in-neurofibromatosis-type-1-a-follow-up-study
#10
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
OBJECTIVE: To investigate development of sonographic abnormalities and applications of high-resolution ultrasonography (HRUS) in neurofibromatosis type 1 (NF1). METHODS: Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper and lower extremity nerves were investigated. Peripheral nerve involvement was graded. RESULTS: Plexiform neurofibromas (PNFs) were found in 7 patients (43...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29285234/targeted-next-generation-sequencing-in-chinese-colorectal-cancer-patients-guided-anti-egfr-treatment-and-facilitated-precision-cancer-medicine
#11
Helei Hou, Dong Liu, Chuantao Zhang, Yanxia Jiang, Guifang Lu, Na Zhou, Xiaonan Yang, Xiaoping Zhang, Zhuokun Li, Hongmei Zhu, Zhaoyang Qian, Xiaochun Zhang
Objective: Colorectal cancer (CRC) patients with both RAS and BRAF wild-type tumors determined by non-next generation sequencing (NGS) testing may still not respond due to the presence of additional mutated genes such as PIK3CA or PTEN. In this study, a broad, hybrid capture-based NGS assay was used to identify RAS, BRAF and additional targetable genetic alterations from Chinese CRC tissues. Methods: Fifty-seven cases of CRC were enrolled, and all the patients signed the informed consent...
December 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/29279013/novel-approaches-to-diagnosis-and-treatment-of-juvenile-myelomonocytic-leukemia
#12
Franco Locatelli, Mattia Algeri, Pietro Merli, Luisa Strocchio
Juvenile myelomonocytic leukemia (JMML) is a clonal hematopoietic disorder of infancy/early childhood, resulting from oncogenic mutations in genes involved in the Ras pathway. As JMML often exhibits an aggressive course, the timing of diagnosis and treatment is critical to outcome. Areas covered: This review summarizes current approaches to diagnosis and treatment of JMML, highlighting most recent insights into genetic and epigenetic mechanisms underlying the disease, and providing an overview of novel potential therapeutic strategies...
January 3, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29273891/pedsql-neurofibromatosis-type-1-module-for-children-adolescents-and-young-adults-feasibility-reliability-and-validity
#13
Kavitha Nutakki, James W Varni, Nancy L Swigonski
The objective of the present study was to report on the measurement properties of the Pediatric Quality of Life Inventory (PedsQL) Neurofibromatosis Type 1 Module for pediatric patients ages 5-25 from the perspectives of patients and parents. The 104-item PedsQL NF1 Module and 23-item PedsQL Generic Core Scales were completed in a multi-site national study by 323 patients and 335 parents (343 families). Patients were diagnosed with NF1 using the National Institutes of Health diagnostic criteria. In addition to a Total Scale Score, 18 unidimensional scales were derived measuring skin itch bother, skin sensations, pain, pain impact, pain management, cognitive functioning, speech, fine motor, balance, vision, perceived physical appearance, communication, worry, treatment anxiety, medicines, stomach discomfort, constipation, and diarrhea...
December 22, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29248317/volumetric-mri-in-neurofibromatosis-type-1-nf1-comes-of-age-to-help-determine-initiation-and-monitoring-of-targeted-therapies-for-plexiform-neurofibromas
#14
EDITORIAL
David Viskochil, Luke L Linscott
No abstract text is available yet for this article.
December 13, 2017: Academic Radiology
https://www.readbyqxmd.com/read/29246098/optic-pathway-gliomas-in-neurofibromatosis-type-1
#15
Cynthia J Campen, David H Gutmann
Neurofibromatosis type 1 (NF1) is one of the most common brain tumor predisposition syndromes, in which affected children are prone to the development of low-grade gliomas. While NF1-associated gliomas can be found in several brain regions, the majority arise in the optic nerves, chiasm, tracts, and radiations (optic pathway gliomas; OPGs). Owing to their location, 35-50% of affected children present with reduced visual acuity. Unfortunately, despite tumor stabilization following chemotherapy, vision does not improve in most children...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29243874/emotional-and-behavioral-problems-in-children-and-adolescents-with-neurofibromatosis-type-1
#16
André B Rietman, Thijs van der Vaart, Ellen Plasschaert, Bethany A Nicholson, Rianne Oostenbrink, Lianne C Krab, Mie-Jef Descheemaeker, Marie-Claire Y de Wit, Henriëtte A Moll, Eric Legius, Pieter F A de Nijs
To assess emotional and behavioral problems in children and adolescents with neurofibromatosis type 1,parents of 183 individuals aged 10.8 ± 3.1 years (range 6-17) completed the Child Behavior Checklist (CBCL). Also, 173 teachers completed the Teacher's Report Form (TRF), and 88 adolescents (children from 11 to 17 years) completed the Youth Self-Report (YSR). According to parental ratings, 32% scored in the clinical range (above the 90th percentile). This percentage was much lower when rated by teachers or adolescents themselves...
December 15, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29240009/gastrointestinal-symptoms-in-children-and-adolescents-with-neurofibromatosis-type-1
#17
Cecilie Ejerskov, Klaus Krogh, John R Ostergaard, Iben Joensson, Annette Haagerup
OBJECTIVES: Neurofibromatosis type 1 (NF1) is a complex genetic disorder characterized by symptoms of the skin and nervous system. A previous study indicated that constipation is common in children with NF1. The aim of the present study was to investigate the phenotype and prevalence of gastrointestinal symptoms in a population of 4-17-year-olds with NF1 compared to their unaffected siblings. METHODS: Gastrointestinal symptoms were assessed with a web-based, parent or self-administered, validated, Rome® III diagnostic questionnaire...
December 12, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29231991/combination-of-tnm-staging-and-pathway-based-risk-score-models-in-patients-with-gastric-cancer
#18
Yang-Yang Zhou, Yan-Ting Kang, Chao Chen, Fan-Fan Xu, Hao-Nan Wang, Rong Jin
Due to the complexity and heterogeneity of gastric cancer (GC) in individual patient, current staging system is inadequate for predicting outcome of GC. Comprehensive computational and bioinformatics approach may triumph for the prediction. In this study, GC patients were devided according stage and treatment: curative surgery plus chemoradiotherapy in stage II, curative surgery plus chemoradiotherapy in stage III and IV, unresectable metastatic gastric cancer. The training sets were downloaded from GEO datasets (GSE26253 and GSE14208)...
December 12, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29229345/comparison-of-outcomes-in-three-surgical-approaches-for-dystrophic-cervical-kyphosis-in-patients-with-neurofibromatosis-type-%C3%A2
#19
Tao Lin, Wei Shao, Ke Zhang, Rui Gao, Xuhui Zhou
OBJECTIVE: This study compares the outcomes of anterior-only (AO), posterior-only (PO), and anteroposterior (AP) surgical approaches for the treatment of dystrophic cervical kyphosis in patients with neurofibromatosis type I (NF1). METHODS: A total of 81 patients with dystrophic cervical kyphosis due to NF1 were included in our retrospective observational study. Length of kyphosis, duration of halo-traction, cobb angle, C2-7-SVA, T1 slope, NDI (Neck Disability Index), and complications after surgery were evaluated before and, if possible, after each surgical approach...
December 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#20
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate Gr Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
December 8, 2017: Human Molecular Genetics
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