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[PMID]:28964288
[Au] Autor:Anwar A; Singleton A; Fang Y; Wang B; Shapiro W; Roland JT; Waltzman SB
[Ad] Endereço:New York University School of Medicine, NYU Langone Medical Center, United States. Electronic address: abbas.a.anwar@gmail.com.
[Ti] Título:The value of intraoperative EABRs in auditory brainstem implantation.
[So] Source:Int J Pediatr Otorhinolaryngol;101:158-163, 2017 Oct.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To compare the intraoperative electrically evoked auditory brainstem response (EABR) morphologies between neurofibromatosis II (NF2) adult auditory brainstem implant (ABI) recipients who had auditory percepts post-operatively and those who did not and between NF2 adult ABI recipients and non-NF2 pediatric ABI recipients. METHODS: This was a retrospective case series at a single tertiary academic referral center examining all ABI recipients from 1994 to 2016, which included 34 NF2 adults and 11 non-NF2 children. The morphologies of intraoperative EABRs were evaluated for the number of waveforms showing a response, the number of positive peaks in those responses, and the latencies of each of these peaks. RESULTS: 27/34 adult NF2 patients and 9/10 children had EABR waveforms. 20/27 (74.0%) of the adult patients and all of the children had ABI devices that stimulated post-operatively. When comparing the waveforms between adults who stimulated and those who did not stimulate, the proportion of total number of intraoperative EABR peaks to total possible peaks was significantly higher for the adults who stimulated than for those who did not (p < 0.05). Children had a significantly higher proportion of total number of peaks to total possible peaks when compared to adults who stimulated (p < 0.02). Additionally, there were more likely to be EABR responses at the initial stimulation than intraoperatively in the pediatric ABI population (p = 0.065). CONCLUSIONS: The value of intraoperative EABR tracing may lie in its ability to predict post-operative auditory percepts based on the placement of the array providing the highest number of total peaks.
[Mh] Termos MeSH primário: Implante Auditivo de Tronco Encefálico/métodos
Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia
Neurofibromatose 2/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Implantes Auditivos de Tronco Encefálico
Criança
Pré-Escolar
Feminino
Seres Humanos
Masculino
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171002
[St] Status:MEDLINE


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[PMID]:28581486
[Au] Autor:Wu N; Nguyen Q; Wan Y; Zhou T; Venter J; Frampton GA; DeMorrow S; Pan D; Meng F; Glaser S; Alpini G; Bai H
[Ad] Endereço:Department of Medicine, Texas A&M Health Science Center, College of Medicine, Temple, TX, USA.
[Ti] Título:The Hippo signaling functions through the Notch signaling to regulate intrahepatic bile duct development in mammals.
[So] Source:Lab Invest;97(7):843-853, 2017 Jul.
[Is] ISSN:1530-0307
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Hippo signaling pathway and the Notch signaling pathway are evolutionary conserved signaling cascades that have important roles in embryonic development of many organs. In murine liver, disruption of either pathway impairs intrahepatic bile duct development. Recent studies suggested that the Notch signaling receptor Notch2 is a direct transcriptional target of the Hippo signaling pathway effector YAP, and the Notch signaling is a major mediator of the Hippo signaling in maintaining biliary cell characteristics in adult mice. However, it remains to be determined whether the Hippo signaling pathway functions through the Notch signaling in intrahepatic bile duct development. We found that loss of the Hippo signaling pathway tumor suppressor Nf2 resulted in increased expression levels of the Notch signaling pathway receptor Notch2 in cholangiocytes but not in hepatocytes. When knocking down Notch2 on the background of Nf2 deficiency in mouse livers, the excessive bile duct development induced by Nf2 deficiency was suppressed by heterozygous and homozygous deletion of Notch2 in a dose-dependent manner. These results implicated that Notch signaling is one of the downstream effectors of the Hippo signaling pathway in regulating intrahepatic bile duct development.
[Mh] Termos MeSH primário: Ductos Biliares Intra-Hepáticos/crescimento & desenvolvimento
Neurofibromatose 2/metabolismo
Proteínas Serina-Treonina Quinases/metabolismo
Receptor Notch2/metabolismo
[Mh] Termos MeSH secundário: Animais
Ductos Biliares Intra-Hepáticos/metabolismo
Ductos Biliares Intra-Hepáticos/patologia
Feminino
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Neurofibromatose 2/genética
Proteínas Serina-Treonina Quinases/genética
Receptor Notch2/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Notch2 protein, mouse); 0 (Receptor, Notch2); EC 2.7.11.1 (Hippo protein, mouse); EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170606
[St] Status:MEDLINE
[do] DOI:10.1038/labinvest.2017.29


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[PMID]:28493872
[Au] Autor:Caulley L; Sawada M; Hinther K; Ko YI; Crowther JA; Kontorinis G
[Ad] Endereço:Department of Otolaryngology - Head and Neck Surgery, University of Ottawa, Ottawa, Ontario, Canada.
[Ti] Título:Geographic distribution of vestibular schwannomas in West Scotland between 2000-2015.
[So] Source:PLoS One;12(5):e0175489, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Although the natural history of vestibular schwannomas (VS) has been previously studied, few studies have investigated associated epidemiological factors, primarily because of the lack of large available cohorts. OBJECTIVE: The objective of this study was to perform a multi-scale geographical analysis of the period prevalence of VS in West Scotland from 2000 to 2015. METHODS: Adults diagnosed with sporadic VS were identified through the National Health Services of West Scotland database and geocoded to the unit postcode. To assess whether the cohort of VS cases could be pooled into a period prevalence measure, the locations of VS cases were analyzed by sex using Cross-L and Difference-K functions. VS period prevalence was examined at two aggregate spatial scales: the postcode district and a coarser scale of NHS Health Boards. The spatial structure of period prevalence within each level of spatial aggregation was measured using univariate global and local Moran's I. Bivariate local Moran's I was used to examine the between-scale variability in period prevalence from the postcode district level to the NHS Health Boards levels. Prior to spatial autocorrelation analyses, the period prevalence at the postcode district was tested for stratified spatial heterogeneity within the NHS Health Boards using Wang's q-Statistic. RESULTS: A total of 512 sporadic VS were identified in a population of over 3.1 million. Between 2000 and 2015, VS period prevalence was highest within the NHS Health Boards of Greater Glasgow and Clyde, Ayrshire and Arran and the Western Isles. However, at the NHS scale, period prevalence exhibited no spatial autocorrelation globally or locally. At the district scale, Highland exhibited the most unusual local spatial autocorrelation. Bivariate local Moran's I results indicated general stability of period prevalence across the postcode district to Health Boards scales. However, locally, some postcode districts in Greater Glasgow and Clyde, Ayrshire and Arran exhibited unusually low district to zone spatial autocorrelation in period prevalence, as did the southern parts of the Western Isles. Some unusually high period prevalence values between the postcode district to Health Board scale were found in Tayside, Forth Valley and Dumfries and Galloway. CONCLUSION: Geographic variability in VS in West Scotland was identified in this patient population, showing that there are areas, even remote, with unusually high or low period prevalence. This can be partially attributed to links between primary and tertiary care. Potential genetic or environmental risk factors that may contribute to geographic variation in this disease within Scotland are also a possibility but require further investigation.
[Mh] Termos MeSH primário: Meio Ambiente
Geografia
Neuroma Acústico/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Bases de Dados Factuais
Feminino
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Neurofibromatose 2/diagnóstico por imagem
Neurofibromatose 2/patologia
Neuroma Acústico/diagnóstico por imagem
Neuroma Acústico/patologia
Fatores de Risco
Escócia/epidemiologia
Análise Espacial
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170512
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0175489


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[PMID]:28315612
[Au] Autor:Winter N; Rattay TW; Axer H; Schäffer E; Décard BF; Gugel I; Schuhmann M; Grimm A
[Ad] Endereço:Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany.
[Ti] Título:Ultrasound assessment of peripheral nerve pathology in neurofibromatosis type 1 and 2.
[So] Source:Clin Neurophysiol;128(5):702-706, 2017 May.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. METHODS: Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits. Healthy volunteers were studied for comparison. RESULTS: In patients with NF1, median cross-sectional area (CSA) of most nerves was significantly increased compared to controls and to NF2 due to generalized plexiform tumors, which arose out of multiple fascicles in 23 of 27 patients (85%). These were often accompanied by cutaneous or subcutaneous neurofibromas. In NF2, the overall aspect of peripheral nerves consisted of localized schwannomas (80%) and, apart from that, normal nerve segments. CONCLUSION: Nerve ultrasound is able to visualize different nerve pathologies in NF1 and NF2. It is a precise and inexpensive screening method for peripheral nerve manifestation in neurofibromatosis and should be considered as the first choice screening imaging modality for all peripheral nerves within reach of non-invasive ultrasound techniques. SIGNIFICANCE: Ultrasound patterns of peripheral nerve pathologies are described for the first time in a large cohort of patients with NF1 and NF2. It is a suitable screening tool and enables targeted MRI analysis.
[Mh] Termos MeSH primário: Neurofibromatose 1/diagnóstico por imagem
Neurofibromatose 2/diagnóstico por imagem
Nervos Periféricos/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Estudos de Casos e Controles
Criança
Feminino
Seres Humanos
Masculino
Meia-Idade
Raízes Nervosas Espinhais/diagnóstico por imagem
Ultrassonografia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170530
[Lr] Data última revisão:
170530
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170319
[St] Status:MEDLINE


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[PMID]:28291216
[Au] Autor:Kushel' YV; Belova YD; Tekoev AR
[Ad] Endereço:Burdenko Neurosurgical Institute, Moscow, Russia.
[Ti] Título:[Intramedullary spinal cord tumors and neurofibromatosis].
[Ti] Título:Intramedullyarnye opukholi spinnogo mozga i neirofibromatoz..
[So] Source:Zh Vopr Neirokhir Im N N Burdenko;81(1):70-73, 2017.
[Is] ISSN:0042-8817
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:The article addresses the issue of a combination and relationship between intramedullary spinal cord tumors (IMSCTs) and neurofibromatosis (NF). AIM: To study, based on large clinical material, features of the prevalence and biological nature of intramedullary spinal cord tumors in neurofibromatosis patients in different age groups. MATERIAL AND METHODS: We analyzed the data of the largest series of patients from all age groups who underwent surgery for spinal cord intramedullary tumors (541 patients; 586 surgeries; age, 2 months to 72 years). RESULTS: Our findings support a potential pathogenetic relationship between intramedullary tumors and neurofibromatosis. Astrocytoma was a predominant intramedullary tumor in patients with NF-1, while ependymoma predominated in patients with NF-2. IMSCTs combined with NF-1 occur predominantly in children and adolescents, while a combination with NF-2 is typical of young adults. Our findings confirm the fact that IMSCT surgery is required for a small number of NF patients.
[Mh] Termos MeSH primário: Neurofibromatose 1/cirurgia
Neurofibromatose 2/cirurgia
Neoplasias da Medula Espinal/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Meia-Idade
Neurofibromatose 1/patologia
Neurofibromatose 2/patologia
Estudos Retrospectivos
Neoplasias da Medula Espinal/enfermagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170614
[Lr] Data última revisão:
170614
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE
[do] DOI:10.17116/neiro201780770-73


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[PMID]:28098509
[Au] Autor:Roberts DS; Slattery WH; Chen BS; Otto SR; Schwartz MS; Lekovic GP
[Ad] Endereço:a House Clinic and House Ear Institute , 2100 West 3rd Street, Los Angeles , CA 90057 , USA.
[Ti] Título:'Compassionate use' protocol for auditory brainstem implantation in neurofibromatosis type 2: Early House Ear Institute experience.
[So] Source:Cochlear Implants Int;18(1):57-62, 2017 Jan.
[Is] ISSN:1754-7628
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration. METHODS: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed. Audiometric performance was also evaluated. RESULTS: Seven patients received either the Cochlear ABI541 (6) or the Med-El Synchrony ABI (1) after the resection of VS. No device or patient-related complications occurred to date. Surgical times and early audiological performance are similar to our previous experience with the Cochlear ABI24 device. CONCLUSIONS: Early experience with the Cochlear ABI541 and Med-El Synchrony ABI devices under a compassionate use protocol suggest that both devices are safe with comparable utility to the Cochlear ABI24 device.
[Mh] Termos MeSH primário: Implante Auditivo de Tronco Encefálico/instrumentação
Implantes Cocleares
Ensaios de Uso Compassivo
Neurofibromatose 2/cirurgia
Neuroma Acústico/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Audiometria
Implante Auditivo de Tronco Encefálico/métodos
Percepção Auditiva
Cóclea/cirurgia
Aprovação de Equipamentos
Feminino
Seres Humanos
Masculino
Meia-Idade
Neurofibromatose 2/complicações
Neurofibromatose 2/psicologia
Neuroma Acústico/etiologia
Neuroma Acústico/psicologia
Período Pós-Operatório
Estudos Retrospectivos
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170119
[St] Status:MEDLINE
[do] DOI:10.1080/14670100.2016.1258203


  7 / 1250 MEDLINE  
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[PMID]:27982762
[Au] Autor:Morris KA; Afridi SK; Evans DG; Hensiek AE; McCabe MG; Kellett M; Halliday D; Pretorius PM; Parry A; , on behalf of the UK NF2 Research Group
[Ad] Endereço:Nuffield Department of Neurosciences and NF2 Unit.
[Ti] Título:The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2.
[So] Source:J Neurosurg Spine;26(4):474-482, 2017 Apr.
[Is] ISSN:1547-5646
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE People with neurofibromatosis Type 2 (NF2) have a genetic predisposition to nervous system tumors. NF2-associated schwannomas stabilize or decrease in size in over half of the patients while they are receiving bevacizumab. NF2 patients treated with bevacizumab for rapidly growing schwannoma were retrospectively reviewed with regard to ependymoma prevalence and response to treatment. METHODS The records of 95 NF2 patients receiving bevacizumab were retrospectively reviewed with regard to spinal ependymoma prevalence and behavior. The maximum longitudinal extent (MLE) of the ependymoma and associated intratumoral or juxtatumoral cysts were measured on serial images. Neurological changes and patient function were reviewed and correlated with radiological changes. RESULTS Forty-one of 95 patients were found to have ependymomas (median age 26 years; range 11-53 years). Thirty-two patients with a total of 71 ependymomas had scans appropriate for serial assessment with a mean follow-up of 24 months (range 3-57 months). Ependymomas without cystic components showed minimal change in MLE. Twelve patients had ependymomas with cystic components or syringes. In these patients, reductions in MLE were observed, particularly due to decreases in the cystic components of the ependymoma. Clinical improvement was seen in 7 patients, who all had cystic ependymomas. CONCLUSIONS Bevacizumab treatment in NF2 patients with spinal cord ependymomas results in a decrease in the size of intratumoral and juxtatumoral cysts as well as adjacent-cord syringes and a decrease in cord edema. This may provide clinical benefit in some patients, although the changes do not meet the current criteria for radiological tumor response.
[Mh] Termos MeSH primário: Inibidores da Angiogênese/uso terapêutico
Bevacizumab/uso terapêutico
Ependimoma/tratamento farmacológico
Neurofibromatose 2/tratamento farmacológico
Neoplasias da Medula Espinal/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Edema/diagnóstico por imagem
Edema/tratamento farmacológico
Edema/epidemiologia
Edema/genética
Ependimoma/diagnóstico por imagem
Ependimoma/epidemiologia
Ependimoma/genética
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Neurofibromatose 2/diagnóstico por imagem
Neurofibromatose 2/epidemiologia
Neurofibromatose 2/genética
Prevalência
Estudos Retrospectivos
Neoplasias da Medula Espinal/diagnóstico por imagem
Neoplasias da Medula Espinal/epidemiologia
Neoplasias da Medula Espinal/genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Angiogenesis Inhibitors); 2S9ZZM9Q9V (Bevacizumab)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170407
[Lr] Data última revisão:
170407
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161217
[St] Status:MEDLINE
[do] DOI:10.3171/2016.8.SPINE16589


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[PMID]:27921248
[Au] Autor:Kehrer-Sawatzki H; Farschtschi S; Mautner VF; Cooper DN
[Ad] Endereço:Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany. hildegard.kehrer-sawatzki@uni-ulm.de.
[Ti] Título:The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
[So] Source:Hum Genet;136(2):129-148, 2017 Feb.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours. Although biallelic mutations of SMARCB1 or LZTR1 have been detected in the tumours of patients with schwannomatosis, the classical two-hit model of tumorigenesis is insufficient to account for schwannoma growth, since NF2 is also frequently inactivated in these tumours. Consequently, tumorigenesis in schwannomatosis must involve the mutation of at least two different tumour suppressor genes, an occurrence frequently mediated by loss of heterozygosity of large parts of chromosome 22q harbouring not only SMARCB1 and LZTR1 but also NF2. Thus, schwannomatosis is paradigmatic for a tumour predisposition syndrome caused by the concomitant mutational inactivation of two or more tumour suppressor genes. This review provides an overview of current models of tumorigenesis and mutational patterns underlying schwannomatosis that will ultimately help to explain the complex clinical presentation of this rare disease.
[Mh] Termos MeSH primário: Carcinogênese/genética
Genes Supressores de Tumor
Neurilemoma/genética
Neurofibromatoses/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Alelos
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Neurofibromatose 2/genética
Proteína SMARCB1/genética
Fatores de Transcrição/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (LZTR1 protein, human); 0 (SMARCB1 Protein); 0 (Transcription Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161207
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-016-1753-8


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[PMID]:27856782
[Au] Autor:Smith MJ; Bowers NL; Bulman M; Gokhale C; Wallace AJ; King AT; Lloyd SK; Rutherford SA; Hammerbeck-Ward CL; Freeman SR; Evans DG
[Ad] Endereço:From the Centre for Genomic Medicine, Division of Evolution and Genomic Science, School of Biological Sciences, St Mary's Hospital (M.J.S., N.L.B., M.B., C.G., A.J.W., D.G.E.), Department of Otolaryngology, Manchester Royal Infirmary (S.K.L.L., S.R.F.), and the Department of Neurosurgery, Salford Ro
[Ti] Título:Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
[So] Source:Neurology;88(1):87-92, 2017 Jan 03.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors. METHODS: We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional nonintradermal schwannomas. RESULTS: Overall, 5/70 (7%) individuals with unilateral VS and at least 2 other schwannomas had a pathogenic or likely pathogenic LZTR1 mutation. Twenty of the 70 subsequently developed bilateral disease. Of the remaining 50, 5 (10%) had a germline LZTR1 mutation, equivalent to the number (n = 5) with a germline NF2 mutation. CONCLUSIONS: The most common etiology for unilateral VS and 2 additional NF2-associated tumors in this cohort was mosaic NF2. Germline LZTR1 and germline NF2 mutations were equally common in our cohort. This indicates that LZTR1 must be considered when making a diagnosis of NF2 in the presence of unilateral VS in individuals without a germline NF2 mutation.
[Mh] Termos MeSH primário: Mutação em Linhagem Germinativa/genética
Neurilemoma/genética
Neurofibromatoses/genética
Neurofibromatose 2/diagnóstico
Neuroma Acústico
Neoplasias Cutâneas/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Coortes
Bases de Dados Factuais/estatística & dados numéricos
Feminino
Lateralidade Funcional/genética
Seres Humanos
Perda de Heterozigosidade/genética
Masculino
Meia-Idade
Neurofibromatose 2/complicações
Neurofibromatose 2/genética
Neurofibromina 2/genética
Neuroma Acústico/complicações
Neuroma Acústico/etiologia
Neuroma Acústico/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (LZTR1 protein, human); 0 (Neurofibromin 2); 0 (Transcription Factors)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000003418


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[PMID]:27755361
[Au] Autor:Roberts DS; Otto S; Chen B; Peng KA; Schwartz MS; Brackmann DE; House JW
[Ad] Endereço:*Division of Otolaryngology-Head and Neck Surgery, University of Connecticut School of Medicine, Farmington, Connecticut †House Clinic and House Ear Institute, Los Angeles, California ‡Department of Otolaryngology-Head and Neck Surgery, William Beaumont Army Medical Center, El Paso, Texas §House Clinic, Neurosurgery, Los Angeles, California ||Huntington Medical Research Institutes, Pasadena, California.
[Ti] Título:Tinnitus Suppression After Auditory Brainstem Implantation in Patients With Neurofibromatosis Type-2.
[So] Source:Otol Neurotol;38(1):118-122, 2017 Jan.
[Is] ISSN:1537-4505
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of tinnitus in these patients. STUDY DESIGN: A retrospective case series and patient survey. SETTING: Tertiary neurotologic referral center. PATIENTS: NF2 patients who underwent translabyrinthine removal of VS and ABI placement between 1994 and 2015. INTERVENTIONS: A survey, retrospective review and two validated tinnitus handicap questionnaires (tinnitus handicap inventory [THI] and tinnitus visual analogue scale [VAS]) were used to characterize the degree of tinnitus in NF2 patients and whether an ABI can alter tinnitus levels. MAIN OUTCOME MEASURES(S): Survey results, THI and VAS scores. RESULTS: One hundred twelve ABI users were contacted and 43 patients (38.3)% responded to our survey. Tinnitus was reported in 83.7% of patients. The THI score for responders was 17.8 ±â€Š20.5 standard deviation (SD). For survey participants, the ABI reduced tinnitus levels (mean VAS: Off = 3.5; On 1-h = 2.1; p = 0.048). For patients who subjectively reported that the ABI reduced tinnitus loudness, tinnitus levels were immediately reduced on ABI activation and after 1 hour of use (mean VAS: Off = 4.8; On = 2.4; On 1-h = 1.8; p < 0.01). Suppression did not continue after the device was turned off. Audiological performance with the ABI did not correlate with tinnitus suppression. CONCLUSION: NF2 patients who have undergone removal of VS have a significant tinnitus handicap and benefit from tinnitus suppression through utilization of an ABI possibly through masking or electrical stimulation of the auditory brainstem.
[Mh] Termos MeSH primário: Implante Auditivo de Tronco Encefálico/métodos
Neurofibromatose 2/complicações
Zumbido/cirurgia
[Mh] Termos MeSH secundário: Adulto
Implantes Auditivos de Tronco Encefálico
Feminino
Seres Humanos
Masculino
Meia-Idade
Neurofibromatose 2/cirurgia
Neuroma Acústico/etiologia
Neuroma Acústico/cirurgia
Estudos Retrospectivos
Zumbido/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE



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