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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces (2020)

Grünert, Sarah C. ; Sass, Jörn Oliver

Background: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. Method: We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. Results: More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development. Conclusion: This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

Thermal expansion of semi-crystalline polymers: Anisotropic thermal strain and crystallite orientation (2020)

Ramakers-van Dorp, Esther ; Möginger, Bernhard ; Hausnerova, Berenika

Analytische Chemie I (2020)

Ritgen, Ulf

Processed-Induced Thermal and Viscoelastic Behavior of Extrusion Blow Molded Parts (2019)

Ramakers-van Dorp, Esther

Process-dependent thermo-mechanical viscoelastic properties and the corresponding morphology of HDPE extrusion blow molded (EBM) parts were investigated. Evaluation of bulk data showed that flow direction, draw ratio, and mold temperature influence the viscoelastic behavior significantly in certain temperature ranges. Flow induced orientations due to higher draw ratio and higher mold temperature lead to higher crystallinities. To determine the local viscoelastic properties, a new microindentation system was developed by merging indentation with dynamic mechanical analysis. The local process-structure-property relationship of EBM parts showed that the cross-sectional temperature distribution is clearly reflected by local crystallinities and local complex moduli. Additionally, a model to calculate three-dimensional anisotropic coefficients of thermal expansion as a function of the process dependent crystallinity was developed based on an elementary volume unit cell with stacked layers of amorphous phase and crystalline lamellae. Good agreement of the predicted thermal expansion coefficients with measured ones was found up to a temperature of 70 °C.

Influence of organic additives on the synthesis of calcium silicate hydrates (C-S-H) based on the pozzolanic reaction (2019)

Geppert, Alexander

Isolation and characterization of therapeutic active exosomes for an anti-inflammatory exosomes based therapy of immunudisfuction disease as rheumatiodarth (2015)

Amin, Shadi

Synthesis and biological evaluation of nitrile-based peptiomimetic inhibitors fore cysteine cathepsins (2016)

Schmitz, Janina

Acceleration of Portland cement with lithium, sodium and potassium silicates and hydroxides (2020)

Witzleben, Steffen Thomas

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways (2019)

Grünert, Sarah Catharina ; Sass, Jörn Oliver

Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. 244 patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed. Results: For 89.6 % of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first two years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities. Conclusion: This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces (2019)

Grünert, Sarah Catharina ; Sass, Jörn Oliver

Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. Results More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development. Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

A Study on the Pozzolanic Properties of Pennisetum Purpureum Ash (2018)

Saruchera, L. ; Mupa, Mathew ; Muchanyereyi-Mukuratirwa, N. ; Witzleben, Steffen

Pozzolanic properties of Pennisetum purpureum grass ash were tested on Portland cement. Results show that the ash can be blended with cements without compromising binding strength of the cement. It was found that Portland cement could be blended with Pennisetum purpureum up to a ratio of 3:2 compromising compressive strength of mortar.Mortar with lower cement replacement took longer to set as evidenced by lower compressive strength within the 28-day aging time. Mortar with higher cement replacement had lower water absorption capacity, an indication that the test pozzolan was of smaller particulate size. XRF analysis and the FTIR spectrum showed that the ash has a higher content of silica. The XRD pattern of the ash showed that the ash was predominantly amorphous. SEM images showed that the ash produced at 600 o C had residual carbon material.

Mesenchymal Stem Cells (2020)

Tonk, Christian Horst ; Witzler, Markus ; Schulze, Margit ; Tobiasch, Edda

This chapter focuses on mesenchymal stem cells (MSCs), a multipotent stem cell type that has been found in a variety of tissues and organs of the human body since their discovery in 1970. Their main function is to maintain and repair the respective tissue in vivo. Mesenchymal stem cells can be easily isolated from different tissues and can undergo extensive self-proliferation prior to differentiation into various mesodermal cell types such as osteoblasts, chondrocytes, adipocytes, tenocytes, myocytes, and fibroblasts. Because of this vast differentiation potential, mesenchymal stem cells are a promising tool for regenerative medicine approaches. They could play an important role in cellular therapy, tissue replacement and regeneration in the future. Mesenchymal stem cells will be compared for their application and differentiation potential to embryonic stem cells and induced pluripotent stem cells and the limitations and challenges using scaffolds for tissue repair will be presented. In addition, legal and ethical aspects of the use of mesenchymal stem cells will be discussed. Moreover, isolation protocols for mesenchymal stem cells from the most common sources namely bone marrow, adipose tissue and umbilical cord are included.

Local process-dependent structural and mechanical properties of extrusion blow molded high-density polyethylene hollow parts (2020)

Ramakers-van Dorp, Esther ; Eger, Benedikt ; Raschen, Clemens ; Urbanek, Michal ; Möginger, Bernhard ; Hausnerova, Berenika

d-Glycerate kinase deficiency in a neuropediatric patient (2020)

Sass, Jörn Oliver ; Behringer, Sidney ; Fernando, Malkanthi ; Cesaroni, Elisabetta ; Cursio, Ida ; Volpini, Alberto ; Till, Claudia

Chromenones as Multineurotargeting Inhibitors of Human Enzymes (2019)

Lemke, Carina ; Christmann, Joscha ; Yin, Jiafei ; Alonso, José M. ; Serrano, Estefanía ; Chioua, Mourad ; Ismaili, Lhassane ; Martínez-Grau, María Angeles ; Beadle, Christopher D. ; Vetman, Tatiana ; Dato, Florian M. ; Bartz, Ulrike ; Elsinghorst, Paul W. ; Pietsch, Markus ; Müller, Christa E. ; Iriepa, Isabel ; Wille, Timo ; Marco-Contelles, José ; Gütschow, Michael

The complex nature of multifactorial diseases, such as Morbus Alzheimer, has produced a strong need to design multitarget-directed ligands to address the involved complementary pathways. We performed a purposive structural modification of a tetratarget small-molecule, that is contilisant, and generated a combinatorial library of 28 substituted chromen-4-ones. The compounds comprise a basic moiety which is linker-connected to the 6-position of the heterocyclic chromenone core. The syntheses were accomplished by Mitsunobu- or Williamson-type ether formations. The resulting library members were evaluated at a panel of seven human enzymes, all of which being involved in the pathophysiology of neurodegeneration. A concomitant inhibition of human acetylcholinesterase and human monoamine oxidase B, with IC50 values of 5.58 and 7.20 μM, respectively, was achieved with the dual-target 6-(4-(piperidin-1-yl)butoxy)-4H-chromen-4-one (7).

Polysaccharide-Based Systems for Targeted Stem Cell Differentiation and Bone Regeneration (2019)

Witzler, Markus ; Büchner, Dominik ; Shoushrah, Sarah Hani ; Babczyk, Patrick ; Baranova, Juliana ; Witzleben, Steffen ; Tobiasch, Edda ; Schulze, Margit

Bone tissue engineering is an ever-changing, rapidly evolving, and highly interdisciplinary field of study, where scientists try to mimic natural bone structure as closely as possible in order to facilitate bone healing. New insights from cell biology, specifically from mesenchymal stem cell differentiation and signaling, lead to new approaches in bone regeneration. Novel scaffold and drug release materials based on polysaccharides gain increasing attention due to their wide availability and good biocompatibility to be used as hydrogels and/or hybrid components for drug release and tissue engineering. This article reviews the current state of the art, recent developments, and future perspectives in polysaccharide-based systems used for bone regeneration.

Multiresolution Analysis Pansharpening for the Fusion of Raman and Conventional Brightfield Microscopy Images (2019)

Pomrehn, Christoph ; Klein, Daniel ; Kolb, Andreas ; Kaul, Peter ; Herpers, Rainer

Synthesis of Substituted Hydroxyapatite for Application in Bone Tissue Engineering and Drug Delivery (2019)

Büchner, D. ; Gericke, M. ; Heinze, T. ; Tobiasch, E. ; Witzleben, S. ; Schulze, M.

Gas Chromatography (2019)

Gas chromatography (GC) is one of the most important types of chromatography used in analytical chemistry for separating and analyzing chemical organic compounds. Today, gas chromatography is one of the most widespread investigation methods of instrumental analysis. This technique is used in the laboratories of chemical, petrochemical, and pharmaceutical industries, in research institutes, and also in clinical, environmental, and food and beverage analysis. This book is the outcome of contributions by experts in the field of gas chromatography and includes a short history of gas chromatography, an overview of derivatization methods and sample preparation techniques, a comprehensive study on pyrazole mass spectrometric fragmentation, and a GC/MS/MS method for the determination and quantification of pesticide residues in grape samples.

Evaluation of STR profiles of single telogen hairs using probabilistic methods (2019)

Heß, Sarah Aurora ; Biermann, Jan-Philip ; Grabmüller, Melanie ; Madea, Burkhard ; Thiele, Ralf ; Jäger, Richard

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