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@PHDTHESIS{Haverkamp:50462,
author = {Haverkamp, Lars Christian Arndt Simon},
othercontributors = {Buse, Gerhard},
title = {{M}itochondriale {Z}ytopathien : {A}ufarbeitung der
unterschiedlichen {P}athogenese ausgewählter
mitochondrialer {Z}ytopathien anhand von zwei
{F}allbeispielen},
address = {Aachen},
publisher = {Publikationsserver der RWTH Aachen University},
reportid = {RWTH-CONV-113008},
pages = {98 S. : graph. Darst.},
year = {2008},
note = {Aachen, Techn. Hochsch., Diss., 2008},
abstract = {Mitochondrial cytopathies are a heterogeneous group of
diseases with a pathogenesis which is still not completely
understood. This paper shows the heterogeneity of
mitochondrial diseases on the basis of two clinical cases,
the problem of their clinical interpretation and the
unanswered questions concerning their pathogenesis.
Therefore the mitochondrial dna of the two patients is
analyzed by molecular genetic methods. The results are
discussed concerning the clinical, pathoanatomical and
molecular biological findings. Because of this approach a
special question is raised for each patient's special
findings. The first case is a patient suffering from LHON
with a lymphoma, who needed chemotherapy. Due to the
preliminary damaged mitochondria we were afraid of a higher
risk the therapy could cause, mainly because apoptosis is
discussed in the pathogenesis of LHON. In order to estimate
this risk the clinical diagnosis LHON has to be ensured by
molecular genetic examinations. The effects of the
chemotherapy were carefully clinically monitored and tested
in vitro. As a conclusion the influence of the detected
mutations on the cells' sensitivity for cytostatic drugs
should be evaluated. The second case shows
immunhistochemical signs of a Becker's muscular dystrophy,
but histological, electron microscopical and biochemical
signs for a mitochondrial myopathy. Damages in the
mitochondrial dna shall be found to explain the different
findings. Again the connection between the mitochondrial dna
alterations, the histological findings and the clinical
symptoms is of great importance. Finally an overview of the
assumed pathogenesis is given by literature research.},
keywords = {Mitochondrium (SWD) / Mitochondriale DNS (SWD) /
Optikusatrophie (SWD) / Mitochondriale Myopathie (SWD) /
Herzmuskelkrankheit (SWD) / Genmutation (SWD)},
cin = {513000-2},
ddc = {610},
cid = {$I:(DE-82)513000-2_20140620$},
typ = {PUB:(DE-HGF)11},
urn = {urn:nbn:de:hbz:82-opus-24717},
url = {https://publications.rwth-aachen.de/record/50462},
}
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