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  • 1
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    German Medical Science; Düsseldorf, Köln
    In:  100 Jahre Phoniatrie in Deutschland; 22. Jahrestagung der Deutschen Gesellschaft für Phoniatrie und Pädaudiologie, 24. Kongress der Union der Europäischen Phoniater; 20050916-20050918; Berlin; DOC05dgppP11 /20050915/
    Publication Date: 2005-09-16
    Description: Wir stellen audiologische und molekulargenetische Befunde einer deutschen Familie mit DIDMOAD-Syndrom vor. DIDMOAD steht für eine neurodegenerative Erkrankung mit den Symptomen Diabetes mellitus, Diabetes insipidus, Optikusatrophie und Schwerhörigkeit ("Deafness"). Als weitere Symptome können eine Atonie der ableitenden Harnwege, psychiatrische Störungen, Ataxie sowie peripher-nervale Störungen auftreten. In der hier untersuchten Familie finden wir zwei betroffene Kinder zweier gesunder Eltern. Die 30 Jahre alte Tochter leidet an insulinpflichtigem Diabetes mellitus, einer stark ausgeprägten Sehstörung mit geringem Restsehvermögen sowie einer hochgradigen Schallempfindungsschwerhörigkeit mit Betonung hoher Frequenzen. Bei dem 20 Jahre alten Bruder besteht ebenfalls ein insulinpflichtiger Diabetes mellitus, eine Optikusatrophie sowie eine hochgradige Hochtonschallempfindungsschwerhörigkeit. Beide Eltern zeigen keine DIDMOAD-typischen klinischen Symptome. Das für DIDMOAD verantwortliche Wolframin Gen (WFS1) ist auf Chromosom 4.p16 lokalisiert. Es kodiert ein 890 Aminosäuren umfassendes Transmembran-Glykoprotein des Endoplasmatischen Retikulums (ER). Die Mutationsanalyse ergibt in unserer untersuchten Familie folgende Befunde: Eine paternale 16 Basenpaarinsertion an der Position 579-594 der Nukleotidsequenz in einem Allel (c.579-594ins16) führt im Exon 4 des Wolframin Gens zu einer Leserahmenverschiebung (Frameshift), sowie eine maternale Nonsense-Mutation, die durch einen Basenaustausch von Cytosin zu Thymin an Position 1266 der Nukleotidsequenz in einem Allel (c.1266 C〉T) im Exon 8 des Wolframin Gens zu einem Stopp-Codon (Q366X) führt.
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 2
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    German Medical Science; Düsseldorf, Köln
    In:  20. Wissenschaftliche Jahrestagung der DGPP; 20030912-20030914; Rostock; DOCP23 /20030912/
    Publication Date: 2003-09-12
    Description: Wir stellen die audiometrischen und molekulargenetischen Befunde einer Familie mit DFNA 6/14 vor. Bei der Erkrankung handelt es sich um eine mittelgradige sensorische Tief-Mitteltonschwerhörigkeit, die autosomal dominant vererbt wird. Die erhobenen audiometrischen Befunde stimmen mit den zu DFNA 6/14 bisher publizierten Daten überein. Mit Hilfe der molekulargenetischen Analyse konnte eine neue Missense Mutation des WFS1-Gens aufgedeckt werden. Dieses Gen ist auch als auslösende Ursache des Wolfram-Syndroms Typ 1 (WFS1), welches auch als DIDMOAD-Syndrom (Diabetes mellitus, Diabetes insipidus, Opticusatrophie, Schwerhörigkeit) bezeichnet wird, bekannt (Inoue et al. 1998, ). Auf Grundlage bisher bekannter Daten kann angenommen werden, daß bei WFS1-Patienten (autosomal rezessiver Erbgang) ein Hochton-Empfindungshörverlust auftreten kann . Demgegenüber zeigen autosomal dominant betroffene Patienten einen sensorischen Tief-Mitteltonhörverlust . Die molekulargenetischen und audiometrischen Befunde der hier untersuchten Familie werden dargestellt. Weitere Untersuchungen fokussieren den pathogenetischen Effekt der Mutation resp. des durch die Mutation betroffenen Proteins.
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 3
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  GMS Zeitschrift für Medizinische Ausbildung; VOL: 28; DOC38 /20110808/
    Publication Date: 2011-08-09
    Description: Introduction: This study presents our online-teaching material within the k-MED project (Knowledge in Medical Education) at the university of Marburg. It is currently organized in five e-learning modules: cytogenetics, chromosomal aberrations, formal genetics, fundamentals of molecular diagnostics, and congenital abnormalities and syndromes. These are basic courses intended to do the educational groundwork, which will enable academic teachers to concentrate on more sophisticated topics during their lectures. Methods: The e-learning modules have been offered to a large group of about 3300 students during four years at the Faculty of Medicine in Marburg. The group consists of science students (human biology) and medical students in the preclinical or the clinical period, respectively. Participants were surveyed on acceptance by evaluating user-tracking data and questionnaires. Results and Conclusion: Analysis of the evaluation data proofs the broad acceptance of the e-learning modules during eight semesters. The courses are in stable or even increasing use from winter term 2005/06 until spring term 2009.Conclusion: Our e-learning-model is broadly accepted among students with different levels of knowledge at the Faculty of Medicine in Marburg. If the e-learning courses are maintained thoroughly, minor adaptations can increase acceptance and usage even furthermore. Their use should be extended to the medical education of technical assistances and nurses, who work in the field of human genetics.
    Description: Einleitung: Die vorliegende Studie beschreibt unser Online-Lehrmaterial Humangenetik im Zusammenhang mit dem k-MED-Projekt (Knowledge in Medical Education) an der Philipps-Universität Marburg. Es besteht aus fünf E-Learning-Modulen: Zytogenetik, Chromosomenstörungen, Formalgenetik, Grundlagen der molekularen Diagnostik sowie Kongenitale Abnormitäten und Fehlbildungssyndrome. Diese E-Module sollen ein einheitliches Wissensniveau der Studierenden gewährleisten und die Dozenten in der Präsenzlehre entlasten.Methoden: Die fünf E-Learning-Module Humangenetik wurden auf freiwilliger Basis einer großen Personengruppe von ca. 3300 Studierenden am Fachbereich Humanmedizin der Universität Marburg über eine Dauer von vier Jahren angeboten. Die Teilnehmer bestanden aus Naturwissenschaftlern (Humanbiologie) im 5. Fachsemester und Studierenden der Humanmedizin, die sich entweder in der Vorklinik (1. Semester) oder im klinischen Studienabschnitt (7./8. Semester) befanden. Von diesen wurden Daten zur Akzeptanz in Form von Usertrackingdaten und klausur-begleitenden Fragebögen erhoben. Ergebnisse und Schlussfolgerung: Die Evaluation zeigte eine breite Akzeptanz unserer Lehrmodule über einen Zeitraum von acht Semestern. Obwohl das Angebot freiwillig ist, werden die Online-Kurse Humangenetik konstant oder sogar in zunehmendem Maße zwischen Wintersemester 2005/06 und Sommersemester 2009 genutzt.Fazit: Unser E-Learning-Modell Humangenetik wird von Studierenden aus unterschiedlichen Semestern und Studiengängen am Fachbereich Humanmedizin gut angenommen und genutzt. Bei sorgfältiger Pflege der Online-Kurse steigern moderate Anpassungen sowohl Akzeptanz als auch Benutzungshäufigkeit in signifikanter Weise. Die Anwendung der E-Learning Module erscheint uns auch in der Ausbildung von MTAs oder Pflegekräften sinnvoll, um ein ausreichendes Grundwissen in Humangenetik zu gewährleisten.
    Keywords: Human genetics ; e-Learning ; evaluation ; multimedia ; Humangenetik ; Evaluation ; Multimedia ; E-Learning ; ddc: 610
    Language: German
    Type: article
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  • 4
    Abstract: Drug sensitivity and resistance testing on diagnostic leukemia samples should provide important functional information to guide actionable target and biomarker discovery. We provide proof of concept data by profiling 60 drugs on 68 acute lymphoblastic leukemia (ALL) samples mostly from resistant disease in cocultures of bone marrow stromal cells. Patient-derived xenografts retained the original pattern of mutations found in the matched patient material. Stromal coculture did not prevent leukemia cell cycle activity, but a specific sensitivity profile to cell cycle-related drugs identified samples with higher cell proliferation both in vitro and in vivo as leukemia xenografts. In patients with refractory relapses, individual patterns of marked drug resistance and exceptional responses to new agents of immediate clinical relevance were detected. The BCL2-inhibitor venetoclax was highly active below 10 nM in B-cell precursor ALL (BCP-ALL) subsets, including MLL-AF4 and TCF3-HLF ALL, and in some T-cell ALLs (T-ALLs), predicting in vivo activity as a single agent and in combination with dexamethasone and vincristine. Unexpected sensitivity to dasatinib with half maximal inhibitory concentration values below 20 nM was detected in 2 independent T-ALL cohorts, which correlated with similar cytotoxic activity of the SRC inhibitor KX2-391 and inhibition of SRC phosphorylation. A patient with refractory T-ALL was treated with dasatinib on the basis of drug profiling information and achieved a 5-month remission. Thus, drug profiling captures disease-relevant features and unexpected sensitivity to relevant drugs, which warrants further exploration of this functional assay in the context of clinical trials to develop drug repurposing strategies for patients with urgent medical needs.
    Type of Publication: Journal article published
    PubMed ID: 28122742
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  • 5
    Keywords: tomography ; MANAGEMENT ; HIGH-RISK PATIENTS ; CLINICAL-PRACTICE ; AMERICAN-COLLEGE ; CHEST PHYSICIANS
    Abstract: BACKGROUND: The best therapy for patients with stage I non-small cell lung cancer (NSCLC) who are medically unfit for lobectomy or prefer not to undergo surgery has not yet been demonstrated. OBJECTIVES: We analyzed data from our prospective database to evaluate the recurrence and survival rates and assess the extent to which the type of treatment explains outcome differences. METHODS: This study included 116 patients with histologically proven clinical stage I NSCLC who were treated with sublobar resection (SLR; n = 42), radiofrequency ablation (RFA; n = 25) or radiotherapy (RT; n = 49) between 2009 and 2013. The primary end point was the time to primary tumor recurrence (PR). Kaplan-Meier curves and Cox regression were used to compare the recurrence patterns and survivals after adjustments for potential confounders. RESULTS: The SLR patients were younger and exhibited better performance status. The RT patients had larger tumors. After adjusting for age and tumor size, there were differences between the different treatments in terms of the PR rate, but no differences were observed in overall (OS) or disease-free survival. The hazard ratio for PR comparing SLR versus RT adjusted for age and tumor size was 2.73 (95% confidence interval, CI, 0.72-10.27) and that for SLR versus RFA was 7.57 (95% CI 1.94-29.47). CONCLUSIONS: Our study suggests that SLR was associated with a higher primary tumor control rate compared to RFA or RT, although the OSs were not different. These results should be confirmed in prospective trials. (c) 2015 S. Karger AG, Basel.
    Type of Publication: Journal article published
    PubMed ID: 25968471
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  • 6
  • 7
    Abstract: Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair. Using whole-genome sequencing, fluorescence in situ hybridization and RNA sequencing, we characterized the genomic landscape of Acute Lymphoblastic Leukemia (ALL) arising in patients with Ataxia Telangiectasia. We detected a high frequency of chromothriptic events in these tumors, specifically on acrocentric chromosomes, as compared with tumors from individuals with other types of DNA repair syndromes (27 cases total, 10 with Ataxia Telangiectasia). Our data suggest that the genomic landscape of Ataxia Telangiectasia ALL is clearly distinct from that of sporadic ALL. Mechanistically, short telomeres and compromised DNA damage response in cells of Ataxia Telangiectasia patients may be linked with frequent chromothripsis. Furthermore, we show that ATM loss is associated with increased chromothripsis prevalence in additional tumor entities.Leukemia advance online publication, 14 March 2017; doi:10.1038/leu.2017.55.
    Type of Publication: Journal article published
    PubMed ID: 28196983
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  • 8
  • 9
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  125. Kongress der Deutschen Gesellschaft für Chirurgie; 20080422-20080425; Berlin; DOC08dgch8926 /20080416/
    Publication Date: 2008-04-14
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 10
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  67. Jahrestagung der Norddeutschen Gesellschaft für Kinder- und Jugendmedizin (NDGKJ); 20180413-20180414; Bremen; DOC18ndgkj29 /20180412/
    Publication Date: 2018-04-13
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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