keyword
MENU ▼
Read by QxMD icon Read
search

Neurofibromatosis + review

keyword
https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#1
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#2
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643039/primary-intraventricular-meningiomas-in-children-experience-of-two-cases-with-review-of-literature
#3
Kapil D Muley, Salman T Shaikh, Chandrashekhar E Deopujari, Uday B Andar
Meningiomas are rare in the pediatric age group, more so in the intraventricular location. They arise in the lateral ventricles from the arachnoid cells contained within the choroid plexus, in the third ventricle from the velum interpositum and in the fourth ventricle from the choroids. These tumors are usually large and have an aggressive behaviour. Surgical management of intra-ventricular meningiomas is challenging because of their deep location, large size at presentation and increased vascularity. The authors report two such cases who presented with symptoms of raised intra cranial pressure and on evaluation were found to have associated hydrocephalus...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#4
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28640657/retinal-findings-on-oct-in-systemic-conditions
#5
Preeti Patil Chhablani, Vikas Ambiya, Akshay G Nair, Sailaja Bondalapati, Jay Chhablani
PURPOSE: Imaging technology has advanced by leaps and bounds in the recent past and has resulted in a much greater understanding of ocular diseases. The aim of this review article is to summarize optical coherence tomography (OCT) findings of various systemic conditions. METHOD: A systematic literature search of the Medline/PubMed database was performed. English articles up to April 2015 were included. Terms used for search included: Alzheimer's Disease; Multiple Sclerosis; Parkinson's Disease; Behçet's Disease; Schizophrenia; Migraine; Obstructive Sleep Apnea Syndrome; Neurofibromatosis; Sickle Cell Disease; Renal diseases; Lupus Retinopathy; Valsalva Retinopathy; Whiplash Retinopathy; Shaken-Baby Syndrome; Choroidal metastases; Intracranial Hypertension; Drug toxicity; Deferoxamine; Sildenafil; Tamoxifen; Hydroxychloroquine; Chloroquine; Ethambutol; Lead; Sickle Cell Disease; and Thalassemia along with OCT...
June 22, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28637487/the-nf1-somatic-mutational-landscape-in-sporadic-human-cancers
#6
REVIEW
Charlotte Philpott, Hannah Tovell, Ian M Frayling, David N Cooper, Meena Upadhyaya
BACKGROUND: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. NF1 exhibits variable clinical expression and is characterized by benign cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia...
June 21, 2017: Human Genomics
https://www.readbyqxmd.com/read/28602981/three-dimensional-translations-following-posterior-three-column-spinal-osteotomies-for-the-correction-of-severe-and-stiff-kyphoscoliosis
#7
Xueshi Li, Zifang Huang, Yaolong Deng, Hengwei Fan, Wenyuan Sui, Chongwen Wang, Junlin Yang
BACKGROUND CONTEXT: Posterior three-column spinal osteotomies were shown to be effective to treat severe and stiff kyphoscoliosis. Translations at the site of osteotomy after deformity correction were commonly seen intraoperatively, which might cause potential neurologic deficits. However, this phenomenon was not thoroughly discussed in the current literature. PURPOSE: This study was to evaluate the three-dimensional translations at the three-column osteotomy site and their effects on neurologic outcome in the surgical correction of severe and stiff kyphoscoliosis...
June 7, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28602926/radiation-induced-malignant-peripheral-nerve-sheath-tumors-a-systematic-review
#8
REVIEW
Ryuya Yamanaka, Azusa Hayano
OBJECTIVE: Radiation-induced malignant peripheral nerve sheath tumors (MPNSTs) are an uncommon late risk of irradiation. We conducted the largest systematic review to date, of individual patient data for patients with these tumors. METHODS: We conducted a systematic search using the PubMed database, and compiled a systematic literature review. We used Kaplan-Meier analysis and log-rank test to estimate survival. RESULTS: We analyzed 65 radiation-induced and 26 radiation-associated MPNSTs in patients with neurofibromatosis...
June 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28602150/translabyrinthine-vestibular-schwannoma-resection-with-simultaneous-cochlear-implantation
#9
Austin N DeHart, William C Broaddus, Daniel H Coelho
OBJECTIVES: (1) Report a rare case of translabyrinthine resection of a sporadic vestibular schwannoma (VS) and concurrent cochlear implantation (CI). (2) Discuss pre-, intra-, and post-operative considerations in this unique patient population. (3) Describe surgical and audiologic outcomes reported in this population. METHODS: Case report and review of the literature. PubMed search 'Cochlear Implantation'[Mesh] AND ('Neuroma, Acoustic'[Mesh] OR 'VESTIBULAR SCHWANNOMA'[All Fields] OR 'SCHWANNOMA'[All Fields]) limited to humans and English language...
June 12, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28592921/malignant-peripheral-nerve-sheath-tumors-state-of-the-science-leveraging-clinical-and-biological-insights-into-effective-therapies
#10
REVIEW
AeRang Kim, Douglas R Stewart, Karlyne M Reilly, David Viskochil, Markku M Miettinen, Brigitte C Widemann
Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality in patients with neurofibromatosis type 1. In 2002, an MPNST consensus statement reviewed the current knowledge and provided guidance for the diagnosis and management of MPNST. Although the improvement in clinical outcome has not changed, substantial progress has been made in understanding the natural history and biology of MPNST through imaging and genomic advances since 2002. Genetically engineered mouse models that develop MPNST spontaneously have greatly facilitated preclinical evaluation of novel drugs for translation into clinical trials led by consortia efforts...
2017: Sarcoma
https://www.readbyqxmd.com/read/28587874/neuropathies-in-the-setting-of-neurofibromatosis-tumor-syndromes-complexities-and-opportunities
#11
REVIEW
Alexander Schulz, Peter Grafe, Christian Hagel, Philipp Bäumer, Helen Morrison, Victor-Felix Mautner, Said Farschtschi
The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum...
June 3, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28582370/isolated-neurofibroma-of-the-orbit-case-report-and-literature-review
#12
Puneet S Braich, Jared C Donaldson, Gurtej S Bajaj, William H Bearden
PURPOSE: To summarize the clinical, radiographic, and intraoperative characteristics of isolated neurofibromas of the orbit (INFO) in the literature and report a case of INFO. METHODS: Case report and a systematic review of the literature. RESULTS: A total of 45 patients were identified from 18 previous studies. There was no sex predilection and mean ages were between 32.3 and 40.0 years with a standard deviation of 9.8 to 19.5 years, median age was 32 to 38 years with a range of 1...
June 2, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28562548/pedicle-screw-versus-hybrid-posterior-instrumentation-for-dystrophic-neurofibromatosis-scoliosis
#13
Jr-Yi Wang, Po-Liang Lai, Wen-Jer Chen, Chi-Chien Niu, Tsung-Ting Tsai, Lih-Huei Chen
Surgical management of severe rigid dystrophic neurofibromatosis (NF) scoliosis is technically demanding and produces varying results. In the current study, we reviewed 9 patients who were treated with combined anterior and posterior fusion using different types of instrumentation (i.e., pedicle screw, hybrid, and all-hook constructs) at our institute.Between September 2001 and July 2010 at our institute, 9 patients received anterior release/fusion and posterior fusion with different types of instrumentation, including a pedicle screw construct (n = 5), a hybrid construct (n = 3), and an all-hook construct (n = 1)...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28548617/sporadic-pediatric-meningiomas-a-neuroradiological-and-neuropathological-study-of-15-cases
#14
Kristin Huntoon, Charles P Pluto, Lynne Ruess, Daniel R Boué, Christopher R Pierson, Jerome A Rusin, Jeffrey Leonard
OBJECTIVE Sporadic meningiomas have been classified in many different ways. Radiographically, these lesions can be described as occurring in either typical or atypical locations. The purpose of this study was to determine if there are any histopathological differences between sporadic meningiomas that arise in these varying locations in children. METHODS The neuroimaging, histopathological findings, and clinical records in patients with sporadic pediatric meningiomas not associated with neurofibromatosis Type 2 or prior radiation therapy were retrospectively reviewed...
May 26, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28526568/analysis-of-complications-following-posterior-vertebral-column-resection-for-the-treatment-of-severe-angular-kyphosis-greater-than-100%C3%A2
#15
Yunus Atici, Mehmet Bulent Balioglu, Deniz Kargin, Muhammed Mert, Akif Albayrak, Mehmet Akif Kaygusuz
OBJECTIVE: The aim of this study was to evaluate the complications, efficacy and safety of posterior vertebral column resection (PVCR) in severe angular kyphosis (SAK) greater than 100°. METHODS: The medical records of 17 patients (mean age 17.9 (range, 9-27) years) with SAK who underwent PVCR, were reviewed. Mean follow-up period was 32.2 (range, 24-64) months. Diagnosis of the patients included congenital kyphosis in 11 patients, post-tuberculosis kyphosis in 3 patients and neurofibromatosis in 3 patients...
May 16, 2017: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/28524213/-update-on-the-treatment-of-rasopathies
#16
A Duat-Rodriguez, A Hernandez-Martin
INTRODUCTION: The term 'RASopathies' covers a series of diseases that present mutations in the genes that code for the proteins of the RAS/MAPK pathway. These diseases include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. Involvement of the RAS/MAPK pathway not only increases predisposition to develop tumours, but also determines the presence of phenotypic anomalies and alterations in learning processes...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28474981/pediatric-meningiomas-65-year-experience-at-a-single-institution
#17
Andrew J Grossbach, Kelly B Mahaney, Arnold H Menezes
OBJECTIVE Meningiomas are relatively common, typically benign neoplasms in adults; however, they are relatively rare in the pediatric population. Pediatric meningiomas behave very differently from their adult counterparts, tending to have more malignant histological subtypes and recur more frequently. The authors of this paper investigate the risk factors, pathological subtypes, and recurrence rates of pediatric meningiomas. METHODS A retrospective chart review was conducted at the University of Iowa to identify patients 20 years old and younger with meningiomas in the period from 1948 to 2015...
May 5, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28474160/-hereditary-tumor-syndromes-in-neuropathology
#18
REVIEW
C Mawrin
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#19
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28449809/genomic-diagnostics-leading-to-the-identification-of-a-tfg-ros1-fusion-in-a-child-with-possible-atypical-meningioma
#20
Maria Rossing, Christina Westmose Yde, Astrid Sehested, Olga Østrup, David Scheie, Volodia Dangouloff-Ros, Birgit Geoerger, Gilles Vassal, Karsten Nysom
Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. It was incompletely resected 6 times over 14 months but kept progressing and was ultimately deemed unresectable. Histologically, the tumor was initially classified as schwannoma, but extensive international review concluded it was most likely an atypical meningioma, WHO grade II...
April 2017: Cancer Genetics
keyword
keyword
120742
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"