Browsing Human- und Zahnmedizin by Referee "Gärtner, Jutta Prof. Dr."
Now showing items 1-17 of 17
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Rnaset2-Defizienz: Eine klinisch-experimentelle Betrachtung im Kontext der Typ-1-Interferonopathien
(2024-11-28)Rnaset2-deficient cystic leukoencephalopathy is a rare congenital disorder caused by a biallelic loss-of-function mutation. This dissertation consists of a clinical and an experimental part on this disease. Clinically, ... -
Charakterisierung von BCAS1-positiven Oligodendrozyten während der menschlichen Gehirnentwicklung
(2024-02-05)This work investigated the comparison between different stages of pre- and early postnatal development of oligodendrocytes in the white matter of the central nervous system. The main focus was to aim at BCAS1+ oligodendrocytes ... -
Influence of Age at Onset and Obesity on Pediatric Multiple Sclerosis
(2024-01-19)Pediatric multiple sclerosis has many parallels to adult multiple sclerosis, however, the initial disease course is generally associated with more relapses yet better recovery and slower disability progression than in ... -
Systematisches Review und Metaanalyse publizierter Fallberichte zu Multipler Sulfatase Defizienz
(2023-06-23)Multiple Sulfatase Deficiency (MSD, MIM #272200) is an ultra-rare lysosomal storage disorder that results from mutations in the SUMF1 gene, which encodes formylglycine-generating enzyme (FGE). Pathogenic variants in SUMF1 ... -
Analyse der intrakraniellen Druckmessung mittels implantierbarer Telemetrie-Sonden bei Patienten mit Hydrozephalus oder idiopathischer intrakranieller Hypertension
(2022-04-04)Background: In some patients with hydrocephalus or idiopathic intracranial hypertension, symptoms continue after shunt operation. In these cases, elevated or lowered intracranial pressure (ICP) can be handled with adjustments ... -
Die Effekte des Wlds-Gens und der Gabe von Nikotinamid auf akute und chronisch-sekundäre Axon-Degeneration
(2021-07-21)Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and a duplication of the peripheral myelin protein of 22 kDa (PMP22) gene causes the most frequent subform CMT1A. Clinical impairments are determined ... -
Histologische Charakterisierung der Leukodystrophien und deren differentialdiagnostische Abgrenzung
(2020-02-07)Introduction Leukodystrophies (LDs) describe a class of various diseases of the white matter caused by genetic defects leading to a disturbed myelination. In our study we defined histologic characteristics of various Lds ... -
Kortikale Demyelinisierung bei entzündlichen, neoplastischen und metabolischen ZNS-Erkrankungen
(2018-11-06)Cortical demyelinated lesions are frequent and widespread in chronic multiple sclerosis (MS) patients, and may contribute to disease progression. Cortical and subpial lesions were found in early MS stages indicating that ... -
Konditionale Inaktivierung von Pten in einem neuen Mausmodell für tomaculöse Neuropathien
(2017-01-30)Schwann cells in the peripheral nervous system form the myelin sheath by wrapping multiple membrane layers around axons with a diameter greater than 1 μm. Such ensheathment of the axon is considered an important prerequisite ... -
Ernährungsstatus stationär behandelter pädiatrischer Patienten unter Berücksichtigung der Erkrankung, sozialer und persönlicher Faktoren
(2016-07-08)The nutritional status is an important influencing factor for the state of health of children and adolescents. Under- as well as overweight can influence the course of a disease and present a risk factor for the development ... -
Multiple Sklerose im Kindes- und Jugendalter – klinische und neuroradiologische Besonderheiten
(2015-09-09)Multiple sclerosis is the most frequently diagnosed chronic inflammatory disease of the central nervous system. In children and adolescents it is increasingly diagnosed. Differences in clinical and neuroradiological ... -
Clinical prospective study on disease variability and score generation in patients with Charcot-Marie- Tooth disease type 1A (HMSN1A)
(2014-09-25)In this clinical prospective study primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) were evaluated with regard to their contribution towards discrimination of disease severity. ... -
Adipositas im Kindes- und Jugendalter: Charakterisierung eines Therapiekollektivs und Prädiktoren für den Therapieerfolg
(2012-02-15)Methods: This study includes data of 462 children and adolescents (219 girls, mean age 10,53 years; 243 boys, mean age 11,07 years), collected between March 2005 and Febuary 2008 ... -
Analyse des PEX1-Gens bei Patienten mit Zellweger-Syndrom: Identifikation einer neuen Deletion und Untersuchung von Polymorphismen in der 5'-untranslatierten Region
(2011-07-14)Zellweger spectrum disorders are autosomal recessive peroxisomal metabolic diseases. Mutations in the PEX1 gene are the most common cause. This thesis deals with the analysis of the PEX1 ... -
Multiple Sklerose: Einflussfaktoren von Oligodendrozytendichte und Remyelinisierung, Östrogen und Progesteron als Protektiva?
(2011-05-31)During the last decade it became more and more apparent that MS is not only clinically but also histologically a heterogeneous disease. It seems now likely that a primary oligodendroglial ... -
Neuroprotektion durch BAG1 in Modellen des idiopathischen Parkinson-Syndroms
(2010-12-16)This work focuses on the different neuroprotective properties of the co-chaperone BAG1 (Bcl-2-associated athanogene-1) in various models of Parkinson's disease. In a SH-SY5Y cell culture ... -
Mechanismus der Neuentstehung von Peroxisomen in Saccharomyces cerevisiae
(2010-02-01)In this thesis, it was tried to investigate the mechanisms of the new formation of peroxisomes, i.e. whether precursors of peroxisomes mature or whether they merge with each other. To clarify ...