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Neurofibromatosis + review

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28441508/cyberknife-for-treatment-of-vestibular-schwannoma-a-meta-analysis
#7
Hossein Mahboubi, Ronald Sahyouni, Omid Moshtaghi, Kent Tadokoro, Yaser Ghavami, Kasra Ziai, Harrison W Lin, Hamid R Djalilian
Objectives (1) Perform a meta-analysis of the available data on the outcomes of CyberKnife radiosurgery for treatment of vestibular schwannomas (VSs) in the published English-language literature and (2) evaluate the collective outcomes of CyberKnife treatment with respect to tumor control and hearing preservation. Data Sources A thorough literature search of published English-language articles was performed in the PubMed, Ovid, and Cochrane databases. Review Methods A database search was conducted with the keywords "CyberKnife" and "vestibular schwannoma" or "acoustic neuroma...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28438404/quantitative-ultrasound-and-tibial-dysplasia-in-neurofibromatosis-type-1
#8
David A Stevenson, Heather Hanson, Austin Stevens, John Carey, David Viskochil, Xiaoming Sheng, Karen Wheeler, Hillarie Slater
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder associated with unilateral anterolateral bowing with subsequent fracture and nonunion. In infancy, physiologic bowing of the lower leg can be confused with pathologic tibial dysplasia in NF1. Little is known about the bone physiology of the tibiae prior to fracture or predictors of fracture. The aim of this study was to characterize bone quality of bowed tibiae prior to fracture in NF1 using quantitative ultrasound (QUS). Bone quality was assessed on both tibiae (the non-bowed and bowed tibiae) using QUS to measure speed of sound (SOS) at the mid-shaft in 23 individuals with NF1...
April 21, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#9
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28409885/long-term-results-of-the-transmanubrial-osteomuscular-sparing-approach-for-pediatric-tumors
#10
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/28406584/thick-corpus-callosum-in-children
#11
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/28392281/human-stem-cell-modeling-in-neurofibromatosis-type-1-nf1
#12
REVIEW
Michelle L Wegscheid, Corina Anastasaki, David H Gutmann
The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression...
April 6, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28384986/intraosseous-neurofibroma-of-the-mandible-a-case-report-and-review-of-literature
#13
Bindiya Ramesh Narang, Sangeeta Jayant Palaskar, Anirudha Ratnadeep Bartake, Rasika Balkrishna Pawar, Sumit Rongte
Neurofibroma (NF) is a benign tumor of the peripheral nervous system. Head and neck NF are generally located in the soft tissue. The tumour is rarely seen intraosseously and most commonly such tumours are seen as solitary lesions, rather than part of neurofibromatosis. The following report describes a case of an intraosseous neurofibroma in a 45-year-old male located in the left posterior mandible. The diagnosis was made based on the clinical findings, radio graphical features, histopathology, and immunohistochemistry...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28371358/hearing-optimization-in-neurofibromatosis-type-2-a-systematic-review
#14
Simon Kingsley Wickham Lloyd, Andrew Thomas King, Scott Alexander Rutherford, Charlotte Lucy Hammerbeck-Ward, Simon Richard MacKenzie Freeman, Deborah Jane Mawman, Martin O'Driscoll, Dafydd Gareth Evans
BACKGROUND: It is common for patients with Neurofibromatosis type 2 to develop bilateral profound hearing loss hearing loss and this is one of the main determinants of quality of life in this patient group. OBJECTIVES: The aim of this systematic review was to review the current literature regarding hearing outcomes of treatments for vestibular schwannomas in neurofibromatosis type 2 including conservative and medical management, radiotherapy, hearing preservation surgery and auditory implantation in order to determine the most effective way of preserving or rehabilitating hearing Search Strategy: A MESH search in PubMed using search terms (("Neurofibromatosis 2"[Mesh]) AND "Neuroma, Acoustic"[Mesh]) AND "Hearing Loss"[Mesh] was performed...
April 1, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28370243/sonographic-evaluation-of-renovascular-hypertension-in-the-pediatric-population-state-of-the-art
#15
REVIEW
Anat Ilivitzki, Luda Glozman, Rebeca Lopez Alfonso, Amos Ofer, Nira Beck Razi, Mika Rotman Shapira
Hypertension in children affects 2-5% of the pediatric population. Identifying secondary causes of hypertension is crucial, as some of these entities may be treatable. Renovascular hypertension accounts for 5-10% of the secondary causes of hypertension in children and is mainly related to fibromuscular dysplasia and neurofibromatosis type 1. Ultrasonographic evaluation of the kidneys, including Doppler interrogation, is the recommended primary screening tool. A comprehensive study of the upper abdomen and retroperitoneum allows for identification of additional underlying etiologies...
March 28, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28367137/epilepsy-mechanisms-in-neurocutaneous-disorders-tuberous-sclerosis-complex-neurofibromatosis-type-1-and-sturge-weber-syndrome
#16
REVIEW
Carl E Stafstrom, Verena Staedtke, Anne M Comi
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28349408/cancer-of-the-peripheral-nerve-in-neurofibromatosis-type-1
#17
REVIEW
Verena Staedtke, Ren-Yuan Bai, Jaishri O'Neill Blakeley
The RASopathy neurofibromatosis 1 is an autosomal dominant hereditary cancer syndrome that represents a major risk for the development of malignancies, particularly malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are unique sarcomas that originate from the peripheral nerve and represent the only primary cancer of the peripheral nervous system. To date, surgery is the only treatment modality proven to have survival benefit for MPNSTs and even when maximal surgery is feasible, these tumors are rarely curable, despite the use of chemotherapy and radiation...
April 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28346328/guided-growth-a-novel-treatment-for-anterolateral-bowing-of-the-tibia
#18
Jim Kennedy, Patrick O'Toole, Joseph F Baker, David Moore
BACKGROUND: Tibial pseudoarthrosis is a source of considerable morbidity in children with neurofibromatosis. Preventing the progression of anterolateral bowing of the tibia (ALBT) to tibial pseudoarthrosis is difficult. The aim of this paper is to report the successful use of guided growth to prevent tibial pseudoarthrosis in a child with neurofibromatosis. METHODS: With local ethical approval, we reviewed the case notes and radiographs of a child with pronounced ALBT who was treated with guided growth to correct the deformity and prevent fracture...
March 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28335700/cochlear-implants-in-the-management-of-hearing-loss-in-neurofibromatosis-type-2
#19
Frances Harris, James R Tysome, Neil Donnelly, Juliette Durie-Gair, Gemma Crundwell, Yu Chuen Tam, Richard D Knight, Zebunnisa H Vanat, Nicola Folland, Patrick Axon
OBJECTIVE: Review of cochlear implant (CI) outcomes in patients with Neurofibromatosis Type 2 (NF2), implanted in the presence of an ipsilateral vestibular schwannoma (VS). Hearing restoration was combined in some cases with a Bevacizumab regime. METHOD: Retrospective review of 12 patients, managed over the period 2009-2016, at a tertiary referral multidisciplinary NF2 clinic. The patients are grouped by hearing outcomes to explore likely protective factors, and to generate a proposed decision-making tool for the selection of either CI or Auditory Brainstem Implant (ABI)...
May 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28329564/polydactyly-in-neurofibromatosis-type-i-a-potential-clue-to-diagnosis
#20
Kate L Kimes, Marie J Han, Patrick J Brown
Neurofibromatosis type 1 is a genetic disorder characterized by variable phenotypic manifestations. The diagnostic criteria, 25 established in 1987, are broad to encompass these pleiotropic findings. Included are the specific osseous manifestations of 26 sphenoid dysplasia and dysplasia or thinning of the cortex of long bones. This review highlights recent evidence on the role of 27 neurofibromin in bone development and suggests consideration for additional diagnostic criteria.
November 15, 2016: Dermatology Online Journal
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