keyword
MENU ▼
Read by QxMD icon Read
search

Neurofibromatosis type 2

keyword
https://www.readbyqxmd.com/read/28645674/does-spinal-deformity-correction-of-non-dystrophic-scoliosis-in-neurofibromatosis-type-1-with-one-stage-posterior-pedicle-screw-technique-produce-outcomes-similar-to-adolescent-idiopathic-scoliosis
#1
Qiunan Lyu, Chunguang Zhou, Yueming Song, Limin Liu, Lei Wang, Zhongjie Zhou
BACKGROUND CONTEXT: Efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic scoliosis in neurofibromatosis type-1(NF-1) is unknown. And there is no study that has directly compared the results of spinal deformity correction between non-dystrophic scoliosis in NF-1 and adolescent idiopathic scoliosis (AIS). PURPOSE: To study the efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic scoliosis in NF-1 and compare non-dystrophic scoliosis in NF-1 with matched AIS to illustrate the differences...
June 20, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28644838/characterization-and-utilization-of-an-international-neurofibromatosis-web-based-patient-entered-registry-an-observational-study
#2
Mindell Seidlin, Robert Holzman, Pamela Knight, Bruce Korf, Vanessa Rangel Miller, David Viskochil, Annette Bakker
The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions...
2017: PloS One
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#3
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/28633092/epilepsy-in-neurofibromatosis-type-1
#4
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28631895/growth-hormone-excess-in-children-with-neurofibromatosis-type-1-and-optic-glioma
#5
Paola Cambiaso, Stefania Galassi, Melania Palmiero, Angela Mastronuzzi, Francesca Del Bufalo, Rossella Capolino, Antonella Cacchione, Paola S Buonuomo, Michaela V Gonfiantini, Andrea Bartuli, Marco Cappa, Marina Macchiaiolo
In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28627810/development-of-emotional-and-behavioral-problems-in-neurofibromatosis-type-1-during-young-childhood
#6
André B Rietman, Rianne Oostenbrink, Kimberley van Noort, Marie-Christine J P Franken, Coriene E Catsman-Berrevoets, Femke K Aarsen, Jos G Hendriksen, Pieter F A de Nijs
This retrospective longitudinal study in young children with neurofibromatosis type 1 (NF1) aimed to identify if, and how early problems in behavior, intelligence, and language development are associated with later behavioral problems. At the first assessment at preschool age, we evaluated language skills, intelligence, and emotional and behavioral problems as reported by parents. The second assessment at school-age we evaluated intelligence, and emotional and behavioral problems as reported by parents and teachers...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28620005/cancer-and-central-nervous-system-tumor-surveillance-in-pediatric-neurofibromatosis-2-and-related-disorders
#7
REVIEW
D Gareth R Evans, Hector Salvador, Vivian Y Chang, Ayelet Erez, Stephan D Voss, Harriet Druker, Hamish S Scott, Uri Tabori
The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these conditions were inextricably tied together under generalized neurofibromatosis. In 1987, the localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q led to a consensus conference at Bethesda, Maryland. The two main neurofibromatoses, NF1 and NF2, were formally separated. More recently, the SMARCB1 and LZTR1 genes on 22q have been confirmed as causing a subset of schwannomatosis...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28611304/immune-profiling-of-nf1-associated-tumors-reveals-histologic-subtype-distinctions-and-heterogeneity-implications-for-immunotherapy
#8
Kellie B Haworth, Michael A Arnold, Christopher R Pierson, Kwangmin Choi, Nicholas D Yeager, Nancy Ratner, Ryan D Roberts, Jonathan L Finlay, Timothy P Cripe
Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28605748/characterization-of-the-phenotype-associated-with-microduplication-reciprocal-to-nf1-microdeletion-syndrome
#9
Elisa Tassano, Thea Giacomini, Mariasavina Severino, Alessandra Gamucci, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11...
June 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28605662/computerized-cognitive-training-for-children-with-neurofibromatosis-type-1-a-pilot-resting-state-fmri-study
#10
Yuliya N Yoncheva, Kristina K Hardy, Daniel J Lurie, Krishna Somandepalli, Lanbo Yang, Gilbert Vezina, Nadja Kadom, Roger J Packer, Michael P Milham, F Xavier Castellanos, Maria T Acosta
In this pilot study, we examined training effects of a computerized working memory program on resting state functional magnetic resonance imaging (fMRI) measures in children with neurofibromatosis type 1 (NF1). We contrasted pre- with post-training resting state fMRI and cognitive measures from 16 participants (nine males; 11.1 ± 2.3 years) with NF1 and documented working memory difficulties. Using non-parametric permutation test inference, we found significant regionally specific differences (family-wise error corrected) in two of four voxel-wise resting state measures: fractional amplitude of low frequency fluctuations (indexing peak-to-trough intensity of spontaneous oscillations) and regional homogeneity (indexing local intrinsic synchrony)...
June 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28602926/radiation-induced-malignant-peripheral-nerve-sheath-tumors-a-systematic-review
#11
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
#12
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/28595424/animal-models-of-meningiomas
#13
Christian Mawrin
Meningiomas are frequent intracranial and intraspinal tumors. They are tumors of the elderly, and meningioma growth at certain localizations, as well as recurrent tumors or primary aggressive biology may pose a therapeutic challenge. To understand the growth characteristics of meningiomas, animal models can provide insights both from a biological and therapeutical point of view. Using genetically-engineered mouse models (GEMM), it has been proven that alterations of the neurofibromatosis type 2 (NF2) gene are key steps for benign meningioma development...
June 4, 2017: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/28578246/appendiceal-ganglioneuroma-in-neurofibromatosis-type-2
#14
Yonah B Esterson, Aryeh Y Esterson, Gregory M Grimaldi, John S Pellerito, Robin J Warshawsky
Here we report the case of a 30-year-old woman with a history of neurofibromatosis type 2 (NF2) who presented with an incidentally discovered pelvic mass on an ultrasound. The identity of the mass remained indeterminate following a CT and MRI, although appendiceal pathology was suspected. An elective laparoscopy and appendectomy were performed without complication and pathology on the specimen demonstrated an appendiceal ganglioneuroma. To our knowledge, there has been no prior documented case of an appendiceal ganglioneuroma in a patient with NF2...
May 27, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28562548/pedicle-screw-versus-hybrid-posterior-instrumentation-for-dystrophic-neurofibromatosis-scoliosis
#15
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/28559144/vascularised-fibula-or-induced-membrane-to-treat-congenital-pseudarthrosis-of-the-tibia-a-multicentre-study-of-18-patients-with-a-mean-9-5-year-follow-up
#16
F Vigouroux, G Mezzadri, R Parot, A Gazarian, S Pannier, F Chotel
BACKGROUND: The objective of this study was to compare outcomes of two surgical techniques used to treat congenital pseudarthrosis of the tibia (CPT), the induced membrane technique (IM) and the transfer of the contralateral vascularised fibula (VF). HYPOTHESIS: The IM technique produces similar outcomes to those of VF grafting in terms of healing and function, while being simpler and having a lower complication rate. MATERIAL AND METHOD: This retrospective multicentre study included 18 patients with a mean age of 2...
May 27, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28558025/doxycycline-potentiates-antitumor-effect-of-5-aminolevulinic-acid-mediated-photodynamic-therapy-in-malignant-peripheral-nerve-sheath-tumor-cells
#17
Ming-Jen Lee, Shih-Hsuan Hung, Mu-Ching Huang, Tsuimin Tsai, Chin-Tin Chen
Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. Some NF1 patients develop benign large plexiform neurofibroma(s) at birth, which can then transform into a malignant peripheral nerve sheath tumor (MPNST). There is no curative treatment for this rapidly progressive and easily metastatic neurofibrosarcoma. Photodynamic therapy (PDT) has been developed as an anti-cancer treatment, and 5-aminolevulinic (ALA) mediated PDT (ALA-PDT) has been used to treat cutaneous skin and oral neoplasms...
2017: PloS One
https://www.readbyqxmd.com/read/28552839/endocrinological-evaluations-of-a-neurofibromatosis-type-1-cohort-is-it-necessary-to-evaluate-autoimmune-thyroiditis-in-neurofibromatosis-type-1
#18
Serhat Güler, Gözde Yeşil, Hasan Önal
BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which coexistence with autoimmune thyroiditis and thyroid gland tumours has been reported previously. AIMS: We aimed to determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases. STUDY DESIGN: Case-control study...
May 29, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28548617/sporadic-pediatric-meningiomas-a-neuroradiological-and-neuropathological-study-of-15-cases
#19
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/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#20
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
keyword
keyword
35894
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"