Browsing Human- und Zahnmedizin by Referee "Huppke, Peter Prof. Dr."
Now showing items 1-14 of 14
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Zur Charakterisierung des humanen Krankheitsgens SLC33A1 und dessen Homologs in Hefe
(2024-08-28)A point mutation in the SLC33A1 gene leads to Huppke-Brendel syndrome, which is already lethal in early childhood. It particularly affects neurological development and is associated with significantly reduced serum copper ... -
Die axonale Schädigung bei der Multiplen Sklerose: Korrelation von Neurofilament Leichtketten mit histologischen Markern der Axonschädigung und der Klinik
(2023-04-18)Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease associated with axonal injury, and neurofilament light chains in serum (sNfL) are considered a biomarker for this damage. We aimed to investigate the ... -
The effect of glatiramer acetate on functional properties of B lymphocytes in patients with MS
(2021-11-29)Objective: We examined the effect of glatiramer acetate (GA) on B-cell maturation, differentiation, and antigen presentation in MS patients. Methods: A cross-sectional study of blood samples from 20 GA-treated and 18 ... -
Apheresis therapy in immunopathologically classified multiple sclerosis patients
(2020-01-31)Plasma exchange and immunoadsorption are second-line apheresis therapies for steroid-unresponsive multiple sclerosis relapses with a variable response rate. The mechanism of action of these therapies is assumed to be the ... -
Mitochondriale Redoxhomöostase in hippocampalen Neuronen MeCP2-defizienter Mäuse
(2019-09-11)This work should address the question of whether mitochondrially-generated ROS are the possible cause of neuronal dysfunction in RTT. Data collected in previous studies suggest that oxidative stress is important for the ... -
Humanexpositionen gegenüber tensidhaltigen Reinigungs- und Kosmetikprodukten
(2018-01-25)Cleaning and cosmetic products, containing anionic and non-ionic surfactants, are a common cause of exposure with household products and enquiries in poison centres (PC). Three PC in Germany conducted a prospective research ... -
Immunadsorption und Plasmapherese in der Behandlung von Multipler Sklerose und Neuromyelitis Optica
(2017-02-14)Background: Plasma exchange (PE) and immunoadsorption (IA) are alternative treatments of steroid-refractory relapses of multiple sclerosis (MS) or neuromyelitis optica (NMO). Methods: Adverse events and neurological ... -
Die Reaktivierung der FMR1-Transkription in Fibroblasten von Patienten mit Fragilem-X-Syndrom durch Methotrexat
(2014-12-16)The characteristical phenotype of patients with fragile X syndrome is caused by a loss of FMRP expression. In this connection a DNA hypermethylation of the promotor region leads to transcriptional silencing of the FMR1 ... -
Zystische Raumforderungen der Glandula pinealis: Diagnostik, Symptomatik und postoperatives Outcome
(2014-09-16)Tumoren der Pinealisregion bieten ein großes Spektrum unterschiedlicher Entitäten und demzufolge auch differente Behandlungsansätze. Aufgrund der Rarität pinealer Raumforderungen, insbesondere der Pinealiszysten, ist die ... -
Immunhistochemische Expressionsanalyse von 5-HT4(a)-, 5-HT7-Rezeptoren und MeCP2 im Hirnstamm von Fluoxetin-behandelten Ratten
(2013-04-08)Das Rett-Syndrom ist eine an das X-Chromosom gebundene entwicklungsabhängige neurodegenerative Erkrankung, die neben einer schwerwiegenden mentalen Retardierung auch mit z. T. lebensbedrohenden Atmungsstörungen assoziiert ... -
Modulation der Hypoxie-Empfindlichkeit medullärer Netzwerke in einem Maus-Modell des Rett-Syndroms
(2012-09-14)For this thesis I investigated if elicitation of hypoxia-induced spreading depression-like depolarizations (HSDs) in the brain stem of mice is possible. Furthermore I screened for differences in hypoxia susceptibility between ... -
Erhöhte Hypoxieempfindlichkeit in Hippokampusschnitten bei einem Mausmodell des RETT-Syndroms
(2012-07-26)Rett syndrome is a neurodevelopmental disorder caused by mutations in the X-chromosomal MECP2 gene encoding for the transcriptional regulator methyl CpG binding protein 2 (MeCP2). Rett patients suffer from episodic ... -
Subtelomere Chromosomenveränderungen mittels quantitativer Real-Time PCR bei Patienten mit mentaler Retardierung und normalem zytogenetischem Chromosomensatz
(2011-04-05)Aim of this study is the presentation of a group of 296 individuals with mental retardation and normal set of chromosomes who's DNA was analyzed for subtelomeric imbalances by quantitative ... -
Quantitative Genexpressionsanalyse im respiratorischen Netzwerk an Mausmodellen für das Rett-Syndrom
(2011-03-02)Rett syndrome is a severe neurodevelopmental disease that affects especially girls. The clinical characteristics are autistic behaviour, seizures, stereotypical movements like washing hands, ...