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Neurofibromatosis 1

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https://www.readbyqxmd.com/read/29450403/iris-juvenile-xanthogranuloma-in-an-infant-spontaneous-hyphema-and-secondary-glaucoma
#1
Anca Pantalon, Tudor Ștefănache, Mihai Danciu, Sabina Zurac, Dorin Chiseliță
Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. The aim of the present case report was to demonstrate typical clinical features, emphasize the difficulties attributed when managing these patients and literature review...
July 2017: Romanian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29449315/metaplastic-breast-cancer-in-a-patient-with-neurofibromatosis-type-1-and-somatic-loss-of-heterozygosity
#2
Lorena Suarez-Kelly, Keiko Akagi, Julie W Reeser, Eric Samorodnitsky, Matthew Reeder, Amy Smith, Sameek Roychowdhury, David E Symer, William E Carson
Metaplastic breast carcinoma (MBC) is rare and has a poor prognosis. Here we describe genetic analysis of a 41-year-old female patient with MBC and neurofibromatosis type I (NF1). She initially presented with pT3N1a, grade 3 MBC, but lung metastases were discovered subsequently. To identify the molecular cause of her NF1, we screened for germline mutations disrupting NF1 or SPRED1, revealing a heterozygous germline single nucleotide variant (SNV) in exon 21 of NF1 at c.2709G>A, chr17: 29556342. By report, this variant disrupts pre-mRNA splicing of NF1 transcripts...
February 15, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29449010/a-brief-report-of-plexiform-neurofibroma
#3
Mahdi Khajavi Md, Shahrokh Khoshsirat Md, Lida Ahangarnazari Md, Niloofar Majdinasab Md
Plexiform neurofibroma (PNF) is a rare variant of neurofibromatosis type1 (NF-1), which histopathologically, is a subtype of benign nerve sheath tumors, neurofibromas (NF). It develops as a result of proliferation in all parts of peripheral nervous system and can cause the functional damage, deformities, pain, considerable mortality, and morbidity and even the increasing risk of malignant transformation in some critical cases. Currently, the surgical intervention is the treatment of choice for PNF patients, which due to the tumor invasion, massive growth, and the chance of postoperative regrowth is not possible...
January 10, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29443803/newly-diagnosed-asymptomatic-retinal-astrocytic-hamartoma-in-an-older-adult
#4
A Kaan Gündüz, Carol L Shields, Gökçen Çöndü, Ragıp Gürsel
BACKGROUND: To report a coincidentally discovered retinal astrocytic hamartoma in an asymptomatic older woman with no history of tuberous sclerosis or neurofibromatosis. METHODS: A 63-year-old Turkish woman underwent routine ophthalmic examination. RESULTS: Visual acuity was 20/25 in each eye. On fundus examination, the right eye showed a flat yellow-white superficial retinal lesion in the inferotemporal macula and measuring 1 mm in diameter...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#5
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29440241/-if-there-were-water-we-should-stop-and-drink-neurofibromatosis-presenting-with-diabetes-insipidus
#6
Rachel Barry, Antoinette O' Connor, Mohn Hazriq Awang, Orna O' Toole
A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. A subsequent water deprivation test confirmed central diabetes insipidus, which responded to treatment with desmopressin...
February 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29435207/supernumerary-molars-and-wisdom-tooth-shape-alterations-in-patients-with-neurofibromatosis-type-1
#7
Reinhard E Friedrich, Anika Reul
Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients. Material and Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls...
October 2017: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#8
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29429039/health-survey-of-adults-with-neurofibromatosis-1-compared-to-population-study-controls
#9
Krister W Fjermestad, Livø Nyhus, Øivind J Kanavin, Arvid Heiberg, Lise B Hoxmark
Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62...
February 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29427150/programmed-death-ligand-1-expression-and-tumor-infiltrating-lymphocytes-in-neurofibromatosis-type-1-and-2-associated-tumors
#10
Shiyang Wang, Benjamin Liechty, Seema Patel, Jeffrey S Weber, Travis J Hollmann, Matija Snuderl, Matthias A Karajannis
Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. We performed immunohistochemistry for PD-L1 (clones SP142 and E1L3N), CD3, CD20, CD8, and CD68 in NF1-related tumors (ten dermal and six plexiform neurofibromas) and NF2-related tumors (ten meningiomas and ten schwannomas) using archival formalin-fixed paraffin-embedded tissues...
February 9, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29426343/differences-in-mwcnt-and-swcnt-induced-dna-methylation-alterations-in-association-with-the-nuclear-deposition
#11
Deniz Öner, Manosij Ghosh, Hannelore Bové, Matthieu Moisse, Bram Boeckx, Radu C Duca, Katrien Poels, Katrien Luyts, Eveline Putzeys, Kirsten Van Landuydt, Jeroen Aj Vanoirbeek, Marcel Ameloot, Diether Lambrechts, Lode Godderis, Peter Hm Hoet
BACKGROUND: Subtle DNA methylation alterations mediated by carbon nanotubes (CNTs) exposure might contribute to pathogenesis and disease susceptibility. It is known that both multi-walled carbon nanotubes (MWCNTs) and single-walled carbon nanotubes (SWCNTs) interact with nucleus. Such, nuclear-CNT interaction may affect the DNA methylation effects. In order to understand the epigenetic toxicity, in particular DNA methylation alterations, of SWCNTs and short MWCNTs, we performed global/genome-wide, gene-specific DNA methylation and RNA-expression analyses after exposing human bronchial epithelial cells (16HBE14o- cell line)...
February 9, 2018: Particle and Fibre Toxicology
https://www.readbyqxmd.com/read/29423604/autism-spectrum-disorder-in-an-unselected-cohort-of-children-with-neurofibromatosis-type-1-nf1
#12
S Eijk, S E Mous, G C Dieleman, B Dierckx, A B Rietman, P F A de Nijs, L W Ten Hoopen, R van Minkelen, Y Elgersma, C E Catsman-Berrevoets, R Oostenbrink, J S Legerstee
In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments...
February 8, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29415745/cutaneous-neurofibromas-in-neurofibromatosis-type-i-a-quantitative-natural-history-study
#13
Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P Boyd, Amy Theos, David T Redden, Bruce Korf
BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions...
February 7, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29409029/the-characteristics-of-76-atypical-neurofibromas-as-precursors-to-neurofibromatosis-1-associated-malignant-peripheral-nerve-sheath-tumors
#14
Christine S Higham, Eva Dombi, Aljosja Rogiers, Sucharita Bhaumik, Steven Pans, Steve E J Connor, Markku Miettinen, Raf Sciot, Roberto Tirabosco, Hilde Brems, Andrea Baldwin, Eric Legius, Brigitte C Widemann, Rosalie E Ferner
Background: Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in pre-existing benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. We aimed to clinically characterize ANF and identify management approaches. Methods: We analyzed clinical, imaging, and pathology findings of all patients with NF1 and ANF at three institutions...
February 2, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29398874/intraductal-papillary-bile-duct-adenocarcinoma-and-gastrointestinal-stromal-tumor-in-a-case-of-neurofibromatosis-type-1
#15
Jung Min Lee, Jae Min Lee, Jong Jin Hyun, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yoon Tae Jeen, Hoon Jai Chun, Hong Sik Lee, Chang Duck Kim, Dong Sik Kim, Joo Young Kim
We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 (NF-1). A 72-year-old woman presented with a 2-mo history of right upper abdominal pain unrelated to diet and indigestion. Fourteen years earlier, she had been diagnosed with NF-1, which manifested as café au lait spots and multiple nodules on the skin. Computed tomography (CT) revealed a multilocular low-density mass with septation, and mural nodules in the right hepatic lobe, as well as a 1...
January 28, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29393688/systematic-review-of-high-level-mobility-training-in-people-with-a-neurological-impairment
#16
Tanja Spencer, Sara Aldous, Gavin Williams, Michael Fahey
AIM: The objective of this paper was to systematically review the efficacy of interventions targeting high-level mobility skills in people with a neurological impairment. METHODS: A comprehensive electronic database search was conducted. Study designs were graded using the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM) system and methodological quality was described using the Physiotherapy Evidence Database (PEDro) scale. RESULTS: Twelve exploratory studies (AACPDM levels IV/V), of limited methodological quality (PEDro scores of 2-3 out of 10), were included...
February 2, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#17
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century "Buffon's Histoire Naturelle" and "Cruveilhier's Anatomie Pathologique du Corps Human"...
February 1, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29388260/liponeurofibroma-clinicopathological-features-and-histogenesis
#18
Solam Lee, Hana Bak, Sung Ku Ahn
A neurofibroma is a common cutaneous benign tumor of neural origin. Various histological variants have been reported. Recently, sporadic reports of fatty variants have been reported but their clinicopathological features have not been well studied. The purpose of this study was to examine liponeurofibroma, and to report the distinctive clinicopathological features and histogenesis in comparison with the classic form. A retrospective study was performed on 130 cases. Immunohistochemical staining was performed for S100, factor VIIIa, perilipin and vascular endothelial growth factor...
January 31, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29386211/neurofibromatosis-type-1-a-case-highlighting-pulmonary-and-other-rare-clinical-manifestations
#19
Khoa Anh Nguyen, Mohamed Elnaggar, Natalie M Gallant, Maged Tanios
Neurofibromatosis type 1 (NF1)-related lung disease is a rare but increasingly recognised, high morbidity associated feature of the condition. We present a 48-year-old male patient with NF1, who was initially admitted for a subarachnoid haemorrhage requiring aneurysmal coil embolisation. During his recovery, he developed a left-sided pneumothorax requiring chest tube placement followed by concerns for re-expansion pulmonary oedema requiring intubation. Subsequently, the patient also developed a right-sided pneumothorax requiring additional chest tube placement but did not develop right-sided pulmonary oedema...
January 31, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29383545/children-s-at-home-pilot-study-assessing-dedicated-social-media-for-parents-of-adolescents-with-neurofibromatosis-type-1
#20
Christina Akre, Julie Polvinen, Nicole J Ullrich, Michael Rich
The aim of this pilot study was to evaluate Children's at Home (C@H), a dedicated social media website for parents of adolescents with neurofibromatosis type 1 (NF1). The interventional study included two phases: (1) creating video intervention/prevention assessment (VIA) visual narratives about having an adolescent with NF1 and (2) interacting on C@H, a secure, medically moderated social media website. C@H was evaluated qualitatively at three time points. At enrollment (T0, N = 17), participants reported needing C@H to break their isolation, connect with other families, and receive accurate information, advice, and support from others facing similar challenges...
January 30, 2018: Journal of Genetic Counseling
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