keyword
MENU ▼
Read by QxMD icon Read
search

Neurofibromatosis 1

keyword
https://www.readbyqxmd.com/read/28433079/utilization-of-whole-exome-next-generation-sequencing-variant-read-frequency-for-detection-of-lesion-specific-somatic-loss-of-heterozygosity-in-a-neurofibromatosis-type-1-cohort-with-tibial-pseudarthrosis
#1
Rebecca L Margraf, Chad VanSant-Webb, David Sant, John Carey, Heather Hanson, Jacques D'Astous, Dave Viskochil, David A Stevenson, Rong Mao
A subset of neurofibromatosis type 1 patients develop tibial dysplasia, which can lead to pseudarthrosis. The tissue from the tibial pseudarthrosis region commonly has a somatic second hit in NF1: single-nucleotide variants, small deletions, or loss of heterozygosity (LOH). We used exome next-generation sequencing (NGS) variant frequency data (allelic imbalance analysis) to detect somatic LOH in pseudarthrosis tissue from three individuals with clinically and diagnostically confirmed neurofibromatosis type 1, and verified the results with microarray...
May 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#2
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28431179/mirna-regulation-in-gliomas-usual-suspects-in-glial-tumorigenesis-and-evolving-clinical-applications
#3
Heather Ames, Marc K Halushka, Fausto J Rodriguez
In recent years, an increasing role for noncoding small RNAs (miRNA) has been uncovered in carcinogenesis. These oligonucleotides can promote degradation and/or inhibit translation of key mRNAs. Recent studies have also highlighted a possible role for miRNAs in adult and pediatric brain tumors, including high- and low-grade gliomas, medulloblastoma, ependymoma, and neoplasms associated with neurofibromatosis type 1. Gliomas represent the most common category of primary intraparenchymal brain tumors, and, for example, manipulation of signaling pathways, through inhibition of PTEN transcription appears to be an important function of miRNA dysregulation through miR-21, miR-106b, and miR-26a...
April 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28429332/the-effect-of-post-injection-18-f-fdg-pet-scanning-time-on-texture-analysis-of-peripheral-nerve-sheath-tumours-in-neurofibromatosis-1
#4
Eitan Lovat, Musib Siddique, Vicky Goh, Rosalie E Ferner, Gary J R Cook, Victoria S Warbey
BACKGROUND: Texture features are being increasingly evaluated in (18)F-fluorodeoxyglucose positron emission tomography ((18)F-FDG PET) as adjunctive imaging biomarkers in a number of different cancers. Whilst studies have reported repeatability between scans, there have been no studies that have specifically investigated the effect that the time of acquisition post-injection of (18)F-FDG has on texture features. The aim of this study was to investigate if texture features change between scans performed at different time points post-injection...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28425622/targeted-disruption-of-nf1-in-osteocyte-increases-fgf23-and-osteoid-with-osteomalacia-like-bone-phenotype
#5
Nobuhiro Kamiya, Ryosuke Yamaguchi, Olumide Aruwajoye, Audrey Kim, Gen Kuroyanagi, Matthew Phipps, Naga Suresh Adapala, Jian Q Feng, Harry K W Kim
Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi-system abnormalities including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of the NF1 gene, in osteocytes is largely unknown. This study investigated the role of neurofibromin in osteocytes by disrupting Nf1 under the Dmp1-promoter. The conditional knockout (Nf1 cKO) mice displayed serum profile of a metabolic bone disorder with an osteomalacia-like bone phenotype...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28423318/oligodendrocyte-nf1-controls-aberrant-notch-activation-and-regulates-myelin-structure-and-behavior
#6
Alejandro López-Juárez, Haley E Titus, Sadiq H Silbak, Joshua W Pressler, Tilat A Rizvi, Madeleine Bogard, Michael R Bennett, Georgianne Ciraolo, Michael T Williams, Charles V Vorhees, Nancy Ratner
The RASopathy neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. In NF1 patients, neurological issues may result from damaged myelin, and mice with a neurofibromin gene (Nf1) mutation show white matter (WM) defects including myelin decompaction. Using mouse genetics, we find that altered Nf1 gene-dose in mature oligodendrocytes results in progressive myelin defects and behavioral abnormalities mediated by aberrant Notch activation. Blocking Notch, upstream mitogen-activated protein kinase (MAPK), or nitric oxide signaling rescues myelin defects in hemizygous Nf1 mutants, and pharmacological gamma secretase inhibition rescues aberrant behavior with no effects in wild-type (WT) mice...
April 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#7
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28420320/pediatric-non-vestibular-schwannoma
#8
Cory Broehm, Alyaa Al-Ibraheemi, Karen J Fritchie
While the clinicopathologic features of pediatric vestibular schwannomas, often in the context of neurofibromatosis type 2 (NF2), have been well studied, there is less data regarding the characteristics of pediatric non-vestibular schwannomas (NVS). Additionally, the rate of loss of SMARCB1/INI1 expression in this population has not been systematically evaluated. Our institutional archives were searched for cases of NVS arising in patients 18 years or younger. Clinicopathologic features including SMARCB1/INI1 status were assessed for each case...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28414188/a-case-of-splenomegaly-in-cbl-syndrome
#9
Rachel R Coe, Margaret L McKinnon, Maja Tarailo-Graovac, Colin J Ross, Wyeth W Wasserman, Jan M Friedman, Paul C Rogers, Clara D M van Karnebeek
INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28413392/t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-and-aids
#10
Izana Junqueira de Castro, Esther Botelho Soares da Silva, Talita Rezende Dos Santos, Amanda Barroso de Freitas, Inara Junqueira de Castro, Alessandra Santos Portela, Marilza Campos de Magalhães, Karina Lebeis Pires, Guilherme Almeida Rosa da Silva, Marcelo Costa Velho Mendes de Azevedo
Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28409885/long-term-results-of-the-transmanubrial-osteomuscular-sparing-approach-for-pediatric-tumors
#11
Aziz El Madi, Sabine Irtan, Frédérique Sauvat, Michel Zérah, Gudrun Schleiermacher, Louise Galmiche-Roland, Véronique Minard-Colin, Hervé Brisse, Sabine Sarnacki
BACKGROUND: The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. METHODS: We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution...
April 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28409229/sphenoid-dysplasia-in-neurofibromatosis-type-1-a-new-technique-for-repair
#12
Di Rocco Concezio, Samii Amir, Tamburrini Gianpiero, Massimi Luca, Giordano Mario
PURPOSE: Sphenoid bone dysplasia in neurofibromatosis type 1 is characterized by progressive exophthalmos and facial disfiguration secondary to herniation of meningeal and cerebral structures. We describe a technique for reconstruction of the sphenoid defect apt at preventing or correcting the ocular globe dislocation. METHODS: After placement of spinal cerebrospinal fluid drainage to reduce intracranial pressure, the temporal pole is posteriorly dislocated extradurally...
April 13, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#13
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28405554/arteriovenous-malformation-underlying-a-plexiform-neurofibroma-an-unusual-presentation
#14
Zaheer Abbas, Sepideh Khani, Javad Zare
Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma...
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28403653/congenital-pseudoarthrosis-of-the-distal-radius-treated-with-physeal-sparing-double-barrel-vascularized-free-fibula-transfer-a-case-report
#15
David Y Ding, Joey LaMartina, Chau Tai, Nirav K Pandya
BACKGROUND: Neurofibromatosis type 1 is a hereditary disease that can lead to pseudoarthrosis of various long bones. Rarely, pseudoarthrosis affects the forearm, and to the best of our knowledge, this is the first reported case of pseudarthrosis of the distal radius treated by this unique method. METHODS: We present a case of a 7-year-old male who underwent multiple operations to treat pseudoarthrosis of the distal radius. RESULTS: After failed conservative and operative fixation augmented with autologous iliac crest bone grafting, the patient underwent a successful double-barrel vascularized free fibula graft while preserving the physis of the distal radius...
April 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28403237/evidence-of-neurofibromatosis-type-1-in-a-multi-morbid-inca-child-mummy-a-paleoradiological-investigation-using-computed-tomography
#16
Stephanie Panzer, Holger Wittig, Stephanie Zesch, Wilfried Rosendahl, Sandra Blache, Magdalena Müller-Gerbl, Gerhard Hotz
OBJECTIVE: In this study, an Inca bundle was examined using computed tomography (CT). The primary aim was to determine the preservation status of bony and soft tissues, the sex, the age at the time of death, possible indicators for disease or even the cause of death, as well as the kind of mummification. A secondary aim was to obtain a brief overview of the wrapping in order to gain additional information on the cultural background. MATERIALS AND METHODS: The bundle belongs to the Museum of Cultures in Basel, Switzerland, and was bought in Munich, Germany, in 1921...
2017: PloS One
https://www.readbyqxmd.com/read/28401031/sella-turcica-measurements-on-lateral-cephalograms-of-patients-with-neurofibromatosis-type-1
#17
Reinhard E Friedrich, Johanna Baumann, Anna Suling, Hannah T Scheuer, Hanna A Scheuer
The aim of this study was to measure line segments and areas of sella turcica on lateral cephalograms with respect to the clinical diagnosis of facial phenotype of patients with neurofibromatosis type 1 (NF1). Special attention was given to correlate the measured values with certain tumour types that are typical for this disease. Material and methods: Lateral cephalograms of 194 individuals were investigated. Patients with NF1 were further divided according to the detection and topography of facial plexiform neurofibromas (PNF) taking into account the distribution pattern of the trigeminal nerve...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/28398289/a-high-throughput-molecular-data-resource-for-cutaneous-neurofibromas
#18
Sara J C Gosline, Hubert Weinberg, Pamela Knight, Thomas Yu, Xindi Guo, Nripesh Prasad, Angela Jones, Shristi Shrestha, Braden Boone, Shawn E Levy, Salvatore La Rosa, Justin Guinney, Annette Bakker
Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients...
April 11, 2017: Scientific Data
https://www.readbyqxmd.com/read/28397617/atypical-local-interference-affects-global-processing-in-children-with-neurofibromatosis-type-1
#19
Jonathan M Payne, Melanie A Porter, Samantha Bzishvili, Kathryn N North
OBJECTIVES: To examine hierarchical visuospatial processing in children with neurofibromatosis type 1 (NF1), a single gene disorder associated with visuospatial impairments, attention deficits, and executive dysfunction. METHODS: We used a modified Navon paradigm consisting of a large "global" shape composed of smaller "local" shapes that were either congruent (same) or incongruent (different) to the global shape. Participants were instructed to name either the global or local shape within a block...
April 11, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28393676/deficit-in-phonological-processes-a-characteristic-of-the-neuropsychological-profile-of-children-with-nf1
#20
Yves Chaix, Valérie Lauwers-Cancès, Nathalie Faure-Marie, Catherine Gentil, Sandrine Lelong, Elisabeth Schweitzer, Diana Rodriguez, Stéphanie Iannuzzi, Isabelle Kemlin, Nathalie Dorison, François Rivier, Maryline Carniero, Elodie Preclaire, Sébastien Barbarot, Laurence Lion-François, Pierre Castelnau
Learning disabilities are one of the most frequent complications of neurofibromatosis type 1 (NF1) in children. Studies of the effects of the neurocognitive deficit on academic performance are relatively rare, owing to the small size of the populations concerned. However, research is needed to develop effective rehabilitation programs. In the present study, we explored the impact of a possible phonological deficit on the reading abilities of children with NF1. A multicenter, cross-sectional study was conducted in France on two groups of 75 children with or without NF1 aged 8-12 years, matched for age, sex, handedness, and reading level...
April 10, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
keyword
keyword
66257
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"