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Neurofibromatosis

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https://www.readbyqxmd.com/read/28230149/neurofibromatosis-type-1
#1
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#2
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28229329/predicting-parent-health-related-quality-of-life-evaluating-conceptual-models
#3
Ellen K Defenderfer, Tiffany M Rybak, W Hobart Davies, Kristoffer S Berlin
PURPOSE: Parents of children with chronic illnesses are at risk for poor health-related quality of life (HRQoL), with numerous identified risk factors, but the most informative statistical model considering their combined impact is unclear. The authors conceptualized risk for poor HRQoL using a summed model, comprehensive multivariate model, and latent profile analysis (LPA). METHODS: Community parents completed an online survey, providing information about demographics, child's chronic illness, family functioning, and parent and child HRQoL...
February 22, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28217484/segmental-neurofibromatosis-an-unusual-association-with-ocular-skeletal-and-cerebral-anomalies
#4
M Poornimambaa, Paul V Puthussery, Sandhya George, Beena Narayanan, N Asokan, Priya Prathap
No abstract text is available yet for this article.
January 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28217154/paediatric-calcified-intramedullary-schwannoma-at-conus-a-common-tumor-in-a-vicarious-location
#5
Aniruddha Tekkatte Jagannatha, Krishna Chaitanya Joshi, Shilpa Rao, Umesh Srikantha, Ravi Gopal Varma, Anita Mahadevan
Spinal schwannomas are commonly intradural extramedullary in location. As Schwann cells are not common in the central nervous system, intramedullary schwannomas are a rare entity. In adults, an estimated sixty cases have been reported in English literature. They are rarer in children (less than ten cases), and preoperative diagnosis becomes a prerogative in achieving total excision. Cervical cord is a common location and less commonly they occur in the conus. We report a rare case of calcified conus intramedullary schwannoma in a child without neurofibromatosis, who presented with conus-cauda syndrome of 1-year duration...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217149/congenital-extra-calvarial-plexiform-neurofibroma-in-occipito-cervical-region-with-occipital-bone-defect-with-neurofibromatosis-type-1-and-segmental-neurofibromatosis-case-report-and-review-of-literature
#6
REVIEW
Vivek Kumar Kankane, Gaurav Jaiswal, Tarun Kumar Gupta
Plexiform neurofibroma (PNF) of the scalp is an extremely rare lesion reported in association with neurofibromatosis (NF). Occipital location of PNF is even more infrequent; we reported one pediatric case of PNF in occipito-cervical region with multiple small occipital bone defects and associated with NF-1.
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#7
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28211981/first-report-of-factors-associated-with-satisfaction-in-patients-with-neurofibromatosis
#8
Eric Riklin, Mojtaba Talaei-Kheoi, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
Patient satisfaction is an integral part of quality health care. We assessed whether health literacy and psychosocial factors are associated with patient satisfaction among adults with neurofibromatosis. Eighty adults (mean age = 44 years; 55% female, 87% white) with NF (50% NF1, 41% NF2, and 9% schwannomatosis) completed an adapted Functional, Communicative, and Critical Health Literacy Questionnaire (FCCHL), the Health Literacy Assessment, a series of Patient Reported Outcome Measures Information System (PROMIS) psychosocial tests, and demographics before the medical visit...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28210535/magnetic-resonance-imaging-in-a-neurofibromatosis-type-2-patient-with-a-novel-mri-compatible-auditory-brainstem-implant
#9
REVIEW
Matthew Shew, Judson Bertsch, Paul Camarata, Hinrich Staecker
Auditory brainstem implantation has become a key technique for the rehabilitation of hearing in patients with neurofibromatosis type 2. The nature of this devastating genetic disease requires ongoing MRI for the patient's lifespan. Today, most auditory brainstem implants require removal of the magnet that connects the internal device to the external speech processor to undergo imaging as their disease progresses. Patients have the option of having a short procedure to have the magnet taken out and replaced each time, or alternately using a headband to secure the processor over the receiver coil of the internal device...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28207875/correction-whole-exome-sequencing-of-growing-and-non-growing-cutaneous-neurofibromas-from-a-single-patient-with-neurofibromatosis-type-1
#10
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot
[This corrects the article DOI: 10.1371/journal.pone.0170348.].
2017: PloS One
https://www.readbyqxmd.com/read/28203199/plexiform-neurofibroma-involving-the-lacrimal-gland
#11
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard
BACKGROUND: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid. METHODS: A magnetic resonance imaging scan of the orbit revealed a solid tumor located extraconally at the site of the right lacrimal gland. A transcranial orbitotomy was performed. RESULTS: Histopathological examination demonstrated expanded nerve branches/fascicles cut in various planes in between normal lacrimal gland acini...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28202035/non-optic-glioma-in-adults-and-children-with-neurofibromatosis-1
#12
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K S Heran, Patricia Birch, Ralph Wenzel, Jan M Friedman, Victor-Felix Mautner
BACKGROUND: Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas in adults and compare these findings to the results found in children. RESULTS: One thousand seven hundred twenty-two brain MRI scans of 562 unselected individuals with NF1 were collected at the NF outpatient department of the University Hospital Hamburg-Eppendorf between 2003 and 2015...
February 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28198162/the-health-related-quality-of-life-of-children-adolescents-and-young-adults-with-neurofibromatosis-type-1-and-their-families-analysis-of-narratives
#13
Claire Burke Draucker, Kavitha Nutakki, James W Varni, Nancy L Swigonski
PURPOSE: Provide an in-depth description of the health-related quality of life (HRQoL) in youth diagnosed with neurofibromatosis type 1 (NF1) and their families. DESIGN AND METHODS: Data were drawn from qualitative interviews conducted for a larger study aimed at developing the Pediatric Quality of Life Inventory™ (PedsQL™) NF1 module. RESULTS: Youth with NF1 and their families experience a wide range of concerns related to HRQoL due to the varied symptom expression and uncertain trajectory of the disorder...
February 15, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28196317/common-skin-conditions-in-children-noninfectious-rashes
#14
Brian Z Rayala, Dean S Morrell
Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28195886/pedicled-sensate-composite-calcaneal-flap-in-children-with-congenital-tibial-pseudoarthrosis
#15
Mauricio L D Mongon, Fernando C Ribera, Antonio M A de Souza, Aurelio L Sposito, William D Belangero, Bruno Livani
BACKGROUND: The preservation and functionality of a limb affected by a malformation (such as congenital pseudoarthrosis of the tibia) or a severely mangled lower limb in children, despite modern reconstructive techniques, remains challenging, often eventually requiring amputation to achieve a better outcome. The classical Syme and Boyd procedures are functionally better than transtibial (TT) amputation, but are not feasible for congenital tibial pseudoarthrosis. TT amputation delivers an excellent, effective, and functional stump that usually leads, after prosthetization, to a functional gait...
February 10, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28193237/evaluation-of-quality-of-life-in-adults-with-neurofibromatosis-1-nf1-using-the-impact-of-nf1-on-quality-of-life-inf1-qol-questionnaire
#16
Rosalie E Ferner, Mary Thomas, Gemma Mercer, Victoria Williams, Guy D Leschziner, Shazia K Afridi, John F Golding
BACKGROUND: Neurofibromatosis 1 (NF1) is an inherited, multi-system, tumour suppressor disorder with variable complications that cause psychological distress and social isolation. The study aim was to develop and validate a disease-specific questionnaire to measure quality of life (QOL) in NF1 that is suitable both as an assessment tool in clinical practice and in clinical trials of novel therapy. METHODS: The Impact of NF1 on Quality of Life (INF1-QOL) questionnaire was developed by a literature search for common terms, focus group (n = 6), semi-structured interviews (n = 21), initial drafts (n =50) and final 14 item questionnaire (n = 50)...
February 14, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28193203/first-insight-into-the-somatic-mutation-burden-of-neurofibromatosis-type-2-associated-grade-i-and-grade-ii-meningiomas-a-case-report-comprehensive-genomic-study-of-two-cranial-meningiomas-with-vastly-different-clinical-presentation
#17
Ramita Dewan, Alexander Pemov, Amalia S Dutra, Evgenia D Pak, Nancy A Edwards, Abhik Ray-Chaudhury, Nancy F Hansen, Settara C Chandrasekharappa, James C Mullikin, Ashok R Asthagiri, John D Heiss, Douglas R Stewart, Anand V Germanwala
BACKGROUND: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined. CASE PRESENTATION: Here, we present an in-depth genomic study of benign and atypical meningiomas, both from a single NF2 patient...
February 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28193119/the-key-search-subtest-of-the-behavioural-assessment-of-the-dysexecutive-syndrome-in-children-bads-c-instrument-reveals-impaired-planning-without-external-constraints-in-children-with-neurofibromatosis-type-1
#18
Daria Riva, Chiara Vago, Alessandra Erbetta, Veronica Saletti, Silvia Esposito, Roberto Micheli, Sara Bulgheroni
Studies of executive function and its relationship with brain T2-weighted hyperintensities in children with neurofibromatosis type 1 (NF1) have yielded inconsistent results. We examined 16 children with NF1 aged 8 to 15 years, of normal intelligence, and compared their findings to those of 16 siblings and 16 typically developing children using the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C). NF1 patients had an adequate overall score at BADS-C, but showed significantly lower performance than typical peers in the Key Search subtest...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28185467/appendicopathy-a-report-of-eight-cases
#19
José Ruiz, Antonio Ríos, María Isabel Oviedo, Jose Manuel Rodríguez, Pascual Parrilla
INTRODUCTION: Neurogenic appendicopathy is not a very well-known disease. OBJECTIVE: To analyze the experience in the management of neurogenic appendicopathy in a tertiary hospital, assessing its clinical presentation, histological staging, the treatment carried out and its clinical evolution. METHOD: The study population included patients with histopathological criteria for neurogenic appendicopathy who did not present with MEN 2B syndrome, neurofibromatosis type I or Cowden syndrome...
February 10, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28168076/coexistence-of-juvenile-like-polyp-with-neurofibroma-at-the-gastroesophageal-junction-in-an-adult-with-neurofibromatosis-type-i
#20
Namrah Aijaz, Peter Draganov, Atif Iqbal, Xiuli Liu
A 23-year-old Caucasian male with Neurofibromatosis Type I (NF-I) was found to have a submucosal nodule at the gastroesophageal junction (GEJ) and underwent endoscopic submucosal dissection. Histological examination revealed two different lesions within the nodule. The dominant lesion was inflammatory/hyperplastic (juvenile-like) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma. Gastric/GEJ lesions in NF-I are very rare with only seven cases reported in the literature. Three cases of juvenile-like gastric polyps (located in the antrum, greater curvature, and fundus) have been reported in adult NF-I patients...
2017: Case Reports in Pathology
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