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https://www.readbyqxmd.com/read/28441508/cyberknife-for-treatment-of-vestibular-schwannoma-a-meta-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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...
March 27, 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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28294345/long-term-mri-surveillance-after-microsurgery-for-vestibular-schwannoma
#15
Mia E Miller, Harrison Lin, Bill Mastrodimos, Roberto A Cueva
OBJECTIVES: To determine the optimal postoperative magnetic resonance imaging (MRI) schedule and length of follow-up for patients undergoing microsurgical excision of vestibular schwannoma (VS). STUDY DESIGN: A retrospective review of patients who underwent microsurgical excision of VS at a single tertiary care center between January 1993 and March 2004. METHODS: Two hundred and twenty subjects were analyzed and characteristics gathered, including tumor size, surgical approach, completeness of resection, and length of follow-up to last MRI...
March 14, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#16
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28265819/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-i-historical-observations-and-clinical-perspectives-on-the-etiology-of-increased-csf-protein-levels-csf-clotting
#17
REVIEW
Yosef Laviv, Burkhard S Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. These tumors can present with obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28259295/risk-assessment-in-paediatric-glioma-time-to-move-on-from-the-binary-classification
#18
REVIEW
A J Dodgshun, J R Hansford, M J Sullivan
BACKGROUND: Paediatric glioma encompasses a wide range of entities with highly variable prognoses. Gliomas are grouped by histopathological features into high- and low-grade glioma but this classification until recently has not taken into account many emerging risk factors in this disease. A comprehensive risk classification has not been published for paediatric glioma despite many risk factors being established in this disease. METHODS: A comprehensive literature review was carried out identifying risk factors for paediatric low-grade and high-grade glioma...
March 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28257299/optic-pathway-glioma-of-childhood
#19
REVIEW
Nailyn Rasool, Jeffrey G Odel, Michael Kazim
PURPOSE OF REVIEW: Optic pathway gliomas (OPG) are the most common tumor of the anterior visual pathway and can involve the optic nerve, chiasm, tract, and optic radiations. They are typically benign lesions, often pilocytic astrocytomas, which are diagnosed in childhood. We review the epidemiology, clinical presentation, diagnosis, and management of these lesions in patients with and without neurofibromatosis type 1 (NF-1). RECENT FINDINGS: Most commonly, patients diagnosed with OPG have NF-1 especially if the lesions are bilateral...
May 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28250774/a-giant-lumbar-pseudomeningocele-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#20
Mauro Dobran, Maurizio Iacoangeli, Paolo Ruscelli, Martina Della Costanza, Davide Nasi, Massimo Scerrati
This is a rare case of giant lumbar pseudomeningocele with intra-abdominal extension in patient with neurofibromatosis type 1 (NF1). The patient's clinical course is retrospectively reviewed. A 34-year-old female affected by NF1 was referred to our institution for persistent low back pain and MRI diagnosis of pseudomeningocele located at L3 level with paravertebral extension. From the first surgical procedure by a posterior approach until the relapse of the pseudomeningocele documented by MRI, the patient underwent two subsequent posterior surgical procedures to repair the dural sac defect with fat graft and fibrin glue...
2017: Case Reports in Medicine
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