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Molekulare Charakterisierung von Typ-II-Deletionen bei Patienten mit Neurofibromatose Typ 1Steinmann, Katharina. January 2008 (has links)
Ulm, Univ., Diss., 2008.
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L'audition chez les patients porteurs d'une neurofibromatose de type 1 à propos d'une étude cas-témoins /Bailleul, Sabine Malard, Olivier. January 2005 (has links) (PDF)
Thèse d'exercice : Médecine. Oto-rhino-laryngologie : Université de Nantes : 2005. / Bibliogr. f. 72-79 [77 réf.].
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Cancérologie et neurofibromatose de type 1 à propos de sept enfants suivis dans le service d' onco-hématologie du CHU de Nantes /Boutet, Arnaud Méchinaud, Françoise. January 2005 (has links) (PDF)
Thèse d'exercice : Médecine. Pédiatrie : Université de Nantes : 2005. / Bibliogr. f. 63-68 [67 réf.].
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Zellbiologische und molekulargenetische Mechanismen der Tumorentstehung bei Neurofibromatose Typ 1 (NF 1) /Rosenbaum, Thorsten. January 2001 (has links)
Düsseldorf, Universität, Habilitation, 2001.
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Identification des mutations dans le gène NF1 responsable de la maladie de Von Recklinghausen chez les patients de la clinique de neurofibromatose du Centre universitaire de santé de l'Estrie (CUSE)Rakotoson, Dieudonné Jocelyn. January 1998 (has links)
Thèses (Ph.D.)--Université de Sherbrooke (Canada), 1998. / Titre de l'écran-titre (visionné le 20 juin 2006). Publié aussi en version papier.
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Identification and characterization of neurofibromatosis type 1 (NF1) gene mutationsFang, Li Juan. January 2000 (has links)
Thèses (Ph.D.)--Université de Sherbrooke (Canada), 2000. / Titre de l'écran-titre (visionné le 20 juin 2006). Publié aussi en version papier.
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Auditorisches Hirnstamm-Implantat bei Neurofibromatose Typ 2: Charakteristika der elektrisch evozierten auditorischen Potentiale und deren Bedeutung für den Hörerfolg / Auditory brainstem implants: intraoperative electrophysiology and hearing outcomeZeller, Laura January 2023 (has links) (PDF)
Auditorische Hirnstammimplantate (ABI stellen die einzige Option der Hörrehabilitation bei bilateraler retrocochleärer Ertaubung dar. Die Implantate sind insbesondere in ihrer größten Nutzergruppe - Neurofibromatose Typ 2 Patienten - für ihr sehr variables Hörergebnis bekannt.
Die Evozierbarkeit und die Qualität der intraoperativ abgeleiteten elektrisch evozierten auditorischen Hirnstammantworten wird als möglicher Einflussfaktor auf das Outcome diskutiert. Bisher gelten weder für die Frage des Einsatzes an sich, noch für die Methodik oder die Analyse und Bewertung der EABR in der ABI-Chirurgie einheitliche Konzepte. Ziel dieser Studie ist die detaillierte Analyse der intraoperativ registrierten EABR während ABI-Implantation bei NF2-Patienten.
Zudem stellt Beurteilung der Hörfunktion mit ABI bei NF2-Patienten stellt aufgrund oftmals begleitender Symptomatik der Grunderkrankung eine besondere Herausforderung dar. Sprachtests allein spiegeln die Hörfunktion in dieser Patientengruppe nicht immer umfassend wider. Die in dieser Studie angewendete Würzburger Skala für Implantat-Hören soll dieser Problematik gerecht werden, indem Ergebnisse eines etablierten Sprachtests mit der klinischen Kommunikationsfähigkeit kombiniert werden.
Zusammenfassung der Hauptergebnisse:
Nach intraoperativer Stimulation mittels ABI zeigten sich EABR-Antworten mit null bis 3 Vertex-positiven Peaks (P1, P2, P3), welche in dieser Kohorte im Mittel nach 0,42 ms (P1), 1,43 ms (P2) bzw. 2,40 ms (P3) auftraten. Eine 2-Peak Wellenform war in dieser Studie die am häufigsten beobachtete Morphologie (78,8%). Bei der Stimulation unterschiedlicher Elektrodenkontakte zeigten sich Unterschiede in der EABR-Wellenmorphologie. Alle Antworten konnten in eine der fünf Kategorien der Würzburger EABR-Klassifikation eingeordnet werden.
Für die Latenz von P2 konnte eine statistisch signifikante Korrelation mit der Tumorausdehnung nach Hannover Klassifikation gezeigt werden.
Die Einstufung des Hörergebnisses mit ABI in NF2 nach Ergebnis im MTP-Test und nach Kommunikationsfähigkeit im Alltag unterschied sich in 7 von 22 Fällen (31,2%) um eine Kategorie. Bei der Einordnung in die Würzburger Skala für Implantat-Hören zeigte sich nach Diskussion der divergenten Fälle in 2 Fällen die Kategorisierung zugunsten des Ergebnisses im MTP-Test und in 5 Fällen zugunsten des Ergebnisses der Kommunikationsfähigkeit im Alltag.
Nützliches Hören mit ABI konnte in 95,5% der Patienten gezeigt werden, davon erzielten 68,2% Sprachverständnis.
Die Auslösbarkeit reproduzierbarer intraoperativer EABRs konnte in 95,5% Hörvermögen hervorsagen. / Auditory brainstem implants (ABI) are primarily designed for neurofibromatosis type 2 (NF2) patients with bilateral deafness due to schwannomas. These neuro-prosthetic devices bypass the auditory nerve and produce hearing sensations by direct stimulation of the cochlear nuclei (CN).
This study investigates the importance of intraoperative electrically evoked auditory brainstem responses (EABR) with regards to the auditory outcome.
Out of a prospectively collected series of ABI implantations from 2005 to 2019, 22 patients (10 male, 12 female) fulfilled inclusion criteria (min. age of 15 y, NF2 diagnosis) and were analysed retrospectively for EABR and hearing outcome. EABR analysis relied on the presence and number of vertex positive peaks P1, P2 and P3 at brainstem stimulation. For post-operative hearing outcome a new Clinical ABI Outcome Classification was developed and applied at 6 to 12 months containing 4 categories: Category 1, Star Performer, with >80% speech understanding in auditory only MTP (mono- to polysyllabic) test and ability for continuous spoken conversation without any lip reading; Category 2, Good Performer, with <40 to 80% in auditory only MTP test and some speech understanding combined with lip reading; Category 3, Useful Performance, communication with some additional measures (hearing, lip-reading and written notes) possible; Category 4 Non-useful Performance, no or only scarce sound reception.
In 22 patients, 146 EABR recordings at various sites of the implant were evaluated: A three-peak-formation was present in 7, a two-peek-formation in 115 cases, and one-peak in 13 cases, while 11 remained without any reproducible responses. EABR wave forms showed some variation: Peak P1 mostly developed just out of or after the stimulus artefact while peaks P2 and P3 sometimes showed melting and larger latency differences. Peak P1 appears to correspond to wave III of natural auditory ABR.
Overall auditory outcome was useful or better (Categories 1, 2 or 3) in 95.5 % of cases, with Star or Good Performance in about 68 % of the patients. Presence of EABR predicted auditory rehabilitation correctly in 95.5%.
False positive EABR are rare and a matter of open discussion such as on lead dislocation or secondary brainstem nuclei degeneration. Overall, intra-operative reproducible EABR are highly predictive of adequate brainstem activation and useful hearing rehabilitation with ABI in deaf NF2 patients and appear indispensable for implant positioning. The most reliable peak P1 of EABR may represent immediate activity of cochlear nuclei. The importance of further peaks P2 and P3 and their anatomic correlation still need further evaluation and possibly correlation with more long-term auditory development. The presented ABI hearing classification uses the internationally accepted MTP test and proves to be a universal tool to elucidate the patient’s capacity for speech communication.
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O que pensam pacientes com Neurofibromatose tipo I a respeito de ter uma doença genéticaCantoni, Joyce January 2009 (has links)
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Previous issue date: 2009 / Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ensino. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil / O objetivo geral foi o de analisar o entendimento de pacientes com Neurofibromatose tipo1 (NF1) sobre sua doença, considerando especialmente o fato desta ser de etiologia genética, sendo objetivos específicos: identificar o que os pacientes pensam sobre ter uma doença genética; captar o entendimento que os pacientes têm a respeito do padrão de herança da doença e a importância dada ao aconselhamento genético; avaliar compreensão que possuem acerca da condição crônica da doença; analisar como os pacientes vêem e quais são as implicações práticas da doença nas suas vidas, considerando principalmente a necessidade de tratamento regular, consultas com especialistas e realização periódica de exames; conhecer as fontes de informação que levam os pacientes a construir seu entendimento sobre a doença. Para atingir estes objetivos, adotou-se a abordagem qualitativa, através de entrevistas temáticas com quatro pacientes, procedendo-se, então, à transcrição do material gravado e à subsequente análise de conteúdo deste. Esta análise evidenciou que a etiologia genética era conhecida por todos, mas as implicações decorrentes não se mostraram motivo de maior preocupação. Evidenciou-se também que manifestações correlatas e a etiologia se confundem. Todos foram diagnosticados tardiamente, acima dos 15 anos de idade, o que merece ser alvo de mais reflexão acerca da premência de se diagnosticar precocemente doenças com a NF 1, para melhor controlá-las. Os entrevistados tinham noção que sua doença era progressiva, crônica, mas este fator isoladamente não foi referido como contribuindo para o acompanhamento regular. Todos reportaram ter nascido, ou ter desde a infância, manchas café leite e “tumores” espalhados pelo corpo (os neurofibromas), entretanto negam ter sofrido qualquer preconceito, porém é evidente que sua aparência incomoda, por isso acabam por relatar como essas características fenotípicas são notadas pelos outros. Um deles, por ser rapaz e adolescente, mostra-se mais centrado na ginecomastia que o acomete, sem estabelecer qualquer tipo de associação entre ela e a NF 1. Quanto ao aconselhamento genético, dois entrevistados reconheceram sua importância, enquanto dois outros se mostraram indiferentes. Só uma paciente recorreu espontaneamente a outras fontes de informação, especificamente a Internet, porém declarou-se assustada com o que viu e revoltada com o tom geral de “vitimização”. Os outros declaram não ter procurado nada na rede por dificuldade de acesso ou por falta de interesse. A exceção de um entrevistado, os demais demonstram estarem desinformados sobre genes, cromossomos e mutações. A doença genética, para todos, é algo que está no sangue, sendo transmitida verticalmente dos pais para os filhos. Conclui-se que diante dos avanços da genômica faz-se necessário preparar os profissionais de saúde, mais especificamente, aqueles que estão na ponta da assistência aos pacientes, fazendo-os entender que se todos estão imersos numa mesma macro-cultura, entretanto, ao nível micro as diferença de hábitos, valores, conhecimentos, linguagens, histórias individuais, emoções e personalidades precisam ser consideradas quando se deseja uma compreensão dos elementos envolvidos numa doença de origem genética, cuja evolução implica em comorbidades que demandam intervenções constantes e cuja etiologia envolve padrões de herança autossômica dominante. / The objective of this study was to evaluate the knowledge of patients with Neurofibromatosis 1 about the disease and its genetic etiology. The specific objectives were: identify what they think about “having” a genetic disease; identify what they think about the inheritance of the disease, and how important they consider the genetic counseling; evaluate how and what they think about living with a chronic disease and about the practical consequences of the disease on their everyday life, with the need for several and regular medical appointments, and complementary exams; try to investigate if they searched for more information about their condition, and where; and how this search helped them to reach the knowledge they have about the NF1. Thematic interviews were applied to four patients in order to accomplish these objectives. Content analysis was then applied in a qualitative approach. All patients were conscious of the genetic etiology, but the consequence of that was not matter of concern for all of them. Also they mixed the etiology with the clinical features, and associated diseases. All of then were diagnosed over 15 years of age. This fact deserves more attention because as more precocious the diagnosis of conditions like the NF 1 is done, better control of the disease becomes possible. Even though all of them knew about that the disease was chronic and progressive, this was not enough to warrant a regular treatment. Although all of them report having the café au lait spots since birth or early childhood, and neurofibromas over their bodies, they denied being victims of prejudice, but, in different ways, they revealed their shame about their physical appearances, being aware that they were noticed by others. For one of them, the youngest, a 19 years male, the main problem was a gynecomastia. Two of them recognized the importance of genetic counseling but for the others, it is completely indifferent. Only one of the interviewed searched by herself information in other sources, mainly in the Internet, what made her scared. Also she refers she did not like the general note of victimization she have found there. The others did not make any kind of research, by lack of interest or because they have not known how to do it. Three of the patients had any kind of knowledge about genes, chromosomes and mutations. For all of them, genetic disease is something in the blood, transmitted from parents to the offspring. With the advances in genomics, health professionals, specially those which deal directly with patients, need to be prepared, educated to understand that in spite of all we live in one and same macro culture, although aspects of the micro level such as values, languages, individual experiences, emotions, and others have to be considered in order to achieve a comprehension of what it is involved in a genetic disease, with autossomic dominant pattern of inheritance, and that can present many comorbities that demand frequent interventions, and has to be carefully and regularly “spyed” by health professionals to assure better conditions of life for those affected.
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Análise proteômica em neurofibromatose tipo 1Marqui, Alessandra Bernadete Trovó de [UNESP] 07 October 2005 (has links) (PDF)
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marqui_abt_dr_sjrp.pdf: 1283437 bytes, checksum: 0fe3659e1058875d6800b1e4a6048ab1 (MD5) / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / A Neurofibromatose Tipo 1 (NF1) é uma doença autossômica dominante causada por mutações no gene NF1, responsável pela síntese da proteína neurofibromina. Muitos estudos publicados sobre NF1 têm focado as alterações desse gene e de seu produto em indivíduos afetados, mas as análises de expressão protéica são escassas. No presente estudo, nós investigamos diferenças quantitativas e qualitativas da expressão de proteínas entre amostras de neurofibroma e pele adjacente histologicamente normal, utilizando abordagem proteômica. As proteínas de neurofibroma e pele normal foram separadas por eletroforese bidimensional (2-DE) e identificadas por peptide mass fingerprinting, utilizando espectrometria de massas por dessorção e ionização a laser auxiliada por matriz com base no tempo de vôo (MALDI-TOF). Cinco proteínas foram identificadas: a caspase 14 e a proteína de choque térmico 27/HSP 27, que exibiram expressão reduzida em neurofibromas; a imunoglobulina, a flavina redutase e a proteína de ligação a fosfatidiletanolamina/PEBP, com expressão elevada em neurofibromas. Do nosso conhecimento, este é o primeiro relato de análise comparativa de neurofibromas e pele normal de pacientes com neurofibromatose tipo 1. Das proteínas identificadas, a HSP27 e a PEBP estão conectadas com as vias de sinalização celular p21ras ou cAMP, também relacionadas com a atuação da neurofibromina. A caspase 14 não exibe um elo conhecido com essas cascatas e tal fato pode abrir novos caminhos para o estudo da neurofibromatose. Estudos adicionais ainda são necessários para elucidar o papel dessas proteínas no desenvolvimento da neurofibromatose. Nosso estudo é um passo inicial na descoberta de mecanismos moleculares desta doença e mostra o valor da utilização da análise proteômica na identificação de novos parceiros da neurofibromina relacionados com o desenvolvimento da NF1. / Neurofibromatosis Type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. Many of the studies published on NF1 have focused attention on the gene level, but protein expression analyses are scarce. In the present study, we investigated quantitative and qualitative differences in neurofibroma and histologically normal surrounding skin protein expression of NF1 patients, using a proteomic approach. Proteins from neurofibroma and normal skin were separated by two-dimensional electrophoresis (2-DE) and identified by peptide mass fingerprinting, using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF). Five proteins were identified: caspase 14 and heat shock protein 27 kDa protein/HSP 27 (downregulated in neurofibroma), immunoglobulin, flavin reductase and phosphatidylethanolamine binding protein/PEBP (upregulated in neurofibroma). To our knowledge, this is the first report of a comparative analysis of neurofibromas and normal skin from neurofibromatosis type 1 patients. Of the proteins identified, HSP27 and PEBP have a connection with p21ras or cAMP signaling. Caspase 14 has no known link with these pathways and may open a new avenue for studying neurofibromatosis. Further studies are still needed to elucidate the actual roles of the differentially expressed proteins. Our work is an initial step toward uncovering the molecular mechanism of this disease and shows the value of using proteomic analysis to identify novel partners of neurofibromin related to the development of NF1.
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Resttumore bei der mikrochirurgischen Therapie von Vestibularschwannomen - funktionelle Ergebnisse und radiologisches Verhalten / Residual tumor in vestibular schwannoma surgery - functional outcome and radiological behaviourKahle, Philipp January 2010 (has links) (PDF)
Einleitung: Zwischen 1994-2003 wurden in Zusammenarbeit von HNO- und Neurochirurgie 615 Vestibularschwannome (Grad T3a-T4b) über den subokzipitalen Zugang operiert. In 89 Fällen (14%) konnte aus unterschiedlichen Gründen der Tumor nur inkomplett entfernt werden. Mittels neurologischer Untersuchung und MRT wurde postoperativ das funktionelle Ergebnis bzw. das Wachstumsverhalten des Resttumors untersucht. Außerdem wurden die Art des Resttumors und die Gründe für eine inkomplette Resektion analysiert. Material und Methoden: Alle Tumore wurden unter stetigem Neuromonitoring (AEP, Fazialis-EMG) operiert. Reichte der Tumor bis an die kaudalen Hirnnerven (IX, X, XI, XII) heran, wurden diese ebenfalls überwacht. In der postoperativen Kontrolle erfolgten eine neurologische Untersuchung und eine MRT. Die Ergebnisse wurden mit vorausgegangenen Untersuchungen verglichen, um das Wachstumsverhalten des Resttumors und das funktionelle Ergebnis zu beurteilen. Die Operationsberichte wurden nach den Gründen der inkompletten Tumorentfernung gesichtet. Ergebnisse: Starke Adhärenz des Tumorgewebes zu den Hirnnerven (VII, VIII, kaudale Gruppe) oder zum Hirnstamm, interfaszikuläre Tumornester, eine Gefährdung der Blutversorgung, spontane Entladungen im EMG oder eine reduzierte Ableitbarkeit der AEPs zwangen den Operateur, die Präparation abzubrechen. Die durchschnittliche Tumorgröße in den Fällen der inkompletten Resektion betrug 26,8 mm vs. 19,4 mm bei kompletter Tumorentfernung. Der zurückgelassene Tumorrest bestand in 86% aus einem Kapselanteil, einem Tumorrasen oder interfaszikulären Tumornestern. Grobe Tumorreste waren die Ausnahme. 12 Monate postoperativ wurde bei den Patienten mit kompletter Resektion in 88% eine gute bis sehr gute Funktionalität (House/Brackmann Grad I-II) des Gesichtsnervs beobachtet, bei inkompletter Tumorentfernung in 75%. 66% (n=59) der Resttumore zeigten keine Progredienz, 13% (n=12) eine Wachstumstendenz ohne klinische Symptomatik, 6% (n=5) mussten erneut operiert werden (15%/n=13 keine Kontrolle). Der durchschnittliche Nachbeobachtungszeitraum betrug 48,1 Monate (1-134). Zusammenfassung: Trotz Zurücklassens eines Tumorrestes kommt es nur selten zu einem erneuten Tumorwachstum. In noch weniger Fällen muss eine Rezidivoperation durchgeführt werden. Dies rechtfertigt eine subtotale Tumorresektion in den Fällen einer Hirnnervengefährdung. Verzichtet man auf eine komplette Resektion, lässt sich auch bei sehr großen Tumoren ein gutes bis sehr gutes funktionelles Ergebnis erzielen. / Objective: 615 vestibular schwannomas from grade T3a -T4b were operated between 1994-2003 in a joint intervention by ENT- and neurosurgeons using the suboccipital approach. In 89 operations (14%) some residual tumour could not be removed for different reasons. Clinical and MRI follow-up investigated regrowth rate and functional outcome. Type of residual tumour and reasons for incomplete removal were analyzed. Methods: All tumours were removed under multimodal cranial nerve monitoring using AEP, trigeminal and facial EMG. The caudal cranial nerves were monitored if the tumour extended to the IX, X, XI, or XIIth nerve. Clinical investigation and serial MRI-scans were used to follow up patients. Serial clinical and radiological follow ups were used to investigate radiological behaviour of residual tumour and its clinical consequences. Operational reports were reviewed for reasons of subtotal removal. Results: Strong adherence to cranial nerves (acoustic, facial or caudal), interfascicular growth pattern, drop of EMG or spontaneous firing, reduction of AEP and strong adherence to the brain stem or its vascular supply forced the surgeons to terminate the procedure. Average tumour size in case of incomplete resection was 26.8 mm vs.19.4 mm in complete resection cases. 86% of residual tumours consisted of residual capsula, a thin tumour layer or interfascicular tumour nests. Tumour decompression or gross total removals were exceptions. After 12 months a good to excellent facial nerve function (House/Brackmann I-II) was achieved in complete resection cases in 88% vs. 75% in incomplete resection cases. 66% (59) of residual tumours were not progressive, 13% (12) had progressive growth without any clinical or operative consequence, 6% (5) had to be re-operated (15%/n=13 lost to follow-up). Mean follow-up of all patiens was 48.1 months (1-134). Conclusions: A low percentage of tumour progression and an even lower rate of re-operations seem to justify a nearly complete resection if the tumour growth pattern or electrophysiological warnings force the surgeons to terminate the procedure in order to preserve neural function and therefore quality of life.
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