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MLUH-E-118_1, Pandion haliaetus carolinensis (Gmelin, JF, 1788), eggshell
No full textInventory No.: MLUH-E-118_1, Object: eggshell, Species: Pandion haliaetus carolinensis (Gmelin, JF, 1788), Preservation: complete preservation, Locality_loc.: Lake Istokpoga; Florida, Locality today: Lake Istokpoga, Country: USACollector_leg.: W. H. Phelps, Date: 11/03/1893, Collection_coll.: M. Schönwetter, published in Handbuch der Oologie, Schönwetter, Max: Vol. I, p. 178, Identification by: M. Schönwetter, Aquisition: 1941, Aquired from: Dr. Henrici, ex Collection: ex. Coll. W. H. Phelps; ex. Coll. W. Raine; ex. Coll. Dr. Henric
A very rare SETX gene variant (c.2750T>C) in a 72-year-old man with amyotrophic lateral sclerosis and an unremarkable family history : should genetic testing be routinely performed in all patients?
No full textAmyotrophic lateral sclerosis (ALS) is a severe neurodegenerative multisystem disease with loss of spinal, bulbar and cortical upper and lower motor neurons resulting in progressive and generalised paralysis. Unfortunately, many aspects of this disease remain unclear. In the age of next generation sequencing, numerous gene variants have been discovered that are associated with ALS. In this article, a 72-year-old male underwent a medical history interview, clinical neurological examinations, neuropsychological tests, electrophysiological examinations (electromyography, electroneurography, somatosensory evoked potentials), computed tomography scan of the head and the cervical spine, blood and cerebrospinal fluid tests and a genetic analysis. The results of these examinations provided the definitive diagnosis of ALS. Whole-exome sequencing revealed the very rare genetic finding of the SETX Class-4 variant c.2750T>C (p.Met917Thr). The case presented here discusses the role of the SETX gene as a possible pathogenetic variant of adult-onset ALS. It demonstrates the relevance of genetic screening for gene variants of ALS in routine diagnostics. The precise classification of disease-related gene variants is of great relevance for clinical practice
MLUH-E-76_1, Falco cherrug cherrug Gray, JE, 1834, eggshell
No full textInventory No.: MLUH-E-76_1, Object: eggshell, Species: Falco cherrug cherrug Gray, JE, 1834, Preservation: complete preservation, Locality_loc.: S. Russland, Locality today: Southern Federal District, Country: RussiaDate: ?, Collection_coll.: M. Schönwetter, published in Handbuch der Oologie, Schönwetter, Max: Vol. I, p. 188, Identification by: M. Schönwetter, Aquisition: 1926, Aquired from: Dr. Henrici, ex Collection: ex. Coll. Dr. Henrici, Additional Information: original clutch had 3 eggs one got destroyed through bombing; Hair fissur
Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution
No full textReconstructing and understanding intra-tumor heterogeneity, the coexistence of multiple genetically distinct subclones within the tumor of a patient, and tumor development is essential for resolving carcinogenesis and for identifying mechanisms of therapy resistance. While bulk sequencing can provide a broad view on tumoral complexity/heterogeneity of a patient, single-cell analysis remains essential to identify rare subclones that might drive chemotherapy resistance. In this study, we performed an integrated analysis of bulk and single-cell DNA sequencing data of core-binding factor acute myeloid leukemia patients, defined by the presence of a RUNX1::RUNX1T1 or CBFB::MYH11 fusion gene. By single-cell sequencing, we inferred tumor phylogenies for 8 patients at diagnosis including patient-specific somatic variants, somatic copy-number alterations and fusion genes, and studied clonal evolution under the pressure of chemotherapy for 3 patients. As a result, we developed an approach to reliably integrate subclonal somatic copy number alterations into phylogenetic trees and clonal evolution analysis, obtaining unprecedented resolution of intra-tumor heterogeneity in CBF AML. We were able to show that the fusion gene is among the earliest events of leukemogenesis at single-cell level. We identified remaining tumor clones in 6 patients with complete remission samples indicating incomplete eradication of the tumor clones. Here, we show that identifying the order of mutation acquisition can provide valuable insights into evolutionary history, offering a framework to improve drug selection in the era of targeted therapies
Remote sensing-based assessment of evapotranspiration patterns in a UNESCO world heritage site under increasing water competition
No full textIn water-scarce regions, natural ecosystems and agriculture increasingly compete for limited water resources, intensifying stress during periods of drought. To assess these competing demands, we applied a modified PT-JPL model that incorporates the thermal inertial approach as a substitute for relative humidity (RH) in estimating soil evaporation—a method that significantly outperforms the original PT-JPL formulation in Mediterranean semi-arid irrigated areas. This remote sensing framework enabled us to quantify spatial and temporal variations in water use across both natural and agricultural systems within the UNESCO World Heritage site of Doñana. Our analysis revealed an increasing evapotranspiration (ET) trend in intensified agricultural areas and rice fields surrounding the National Park (R = 0.3), contrasted by a strong negative ET trend in wetlands (R 0.4), highlighting their vulnerability to reduced water inputs. These findings offer crucial insights to support sustainable water management strategies that balance agricultural productivity with the preservation of ecologically valuable systems under mounting climatic and anthropogenic pressures typical of semi-arid Mediterranean environments
Mechanochemical and thermal cleavage of polymer linked copper (I)-biscarbene complexes
No full textThe force-dependent activation of a latent mechanocatalyst based on polymeric Cu(I)-biscarbene complexes is demonstrated in solution by applied ultrasound, underscoring a mechanochemical activation pathway via an external acoustic field. Systematic experiments via ultrasound mediated activation of the Cu(I)-complex prove a chain length dependent cleavage, favored when longer polymer chains (Mn = 4750; 8900; 17200 g mol−1) are attached to the Cu(I)-biscarbene-complex, displaying an subsequent reaction/deactivation pathway with increased ultrasound energy. A different decomposition pathway is observed via purely thermal activation, based on a direct scission of the polymeric chain from the N-heterocyclic carbene, thus prohibiting the formation of the desired catalytically active species. Quantum chemical calculations together with experimental investigations support that splitting one carbene residue from a biscarbene-Cu(I)-center is favored mechanochemically at a force of around 900 pN, in turn lowering the activation energy significantly in comparison to the purely thermal activation pathway
Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia : a GENFI study
No full textThe study of genetic frontotemporal dementia (FTD) allows investigating its earliest presymptomatic stages. Using cross-sectional T1-weighted and diffusion-weighted MRI, we test the hypothesis that cortical microstructural alterations, quantified as cortical mean diffusivity (cMD), are detectable earlier and are more strongly associated with clinical progression than cortical thickness (CTh). The sample comprised n = 710 individuals (47.8 ± 13.5 years, 56.6% female, 14.1 ± 3.3 years of education), including 118 symptomatic carriers and 305 presymptomatic carriers with mutations in C9orf72, GRN or MAPT genes, and 287 non-carriers, collected from 24 GENFI sites. A subset of n = 453 individuals (289 carriers, 164 non-carriers) were investigated across Clinical Dementia Rating (CDR) = 0, 0.5 and ≥1 stages. Two subsets had longitudinal clinical outcome measures, including n = 403 individuals (239 carriers, 164 non-carriers) with Cambridge Behavioural Inventory-Revised scores during 2.8 ± 1.6 years, and n = 261 individuals (164 carriers, 97 non-carriers) with CDR Sum-of-Boxes scores during 2.0 ± 0.8 years. Regional cMD and CTh were entered into linear mixed-effects models incorporating age, sex and education as covariates; site, and individual nested within site were random intercepts. The results demonstrated that cMD is more sensitive than CTh to track early cortical injury, with elevated cMD first observed at CDR = 0 in C9orf72 carriers, followed by MAPT carriers (from CDR = 0.5 stage), and by GRN carriers (beginning at CDR ≥ 1). At all stages, cortical microstructural injury had stronger effect size and was more widespread than cortical thinning. In all mutation carrier types, cMD was more strongly associated than CTh with subsequent clinical progression. Cortical microstructure is a promising biomarker to identify at-risk individuals before atrophy and clinical progression, with utility in therapeutic trials
Precaecal amino acid digestibility of dehulled or toasted plus dehulled lupin and pea grains in broiler chickens
No full textBackground
The use of legume grains as a protein and energy source in broiler rations promotes regional feed production and offers ecological and economic advantages over imported feed. The feeding value of legume grains can be limited by antinutritional factors.
Materials and methods
Three consecutive experiments were conducted to determine precaecal amino acid (AA) digestibility of native (experiment 1), dehulled (experiment 2) or toasted and dehulled lupin and pea grains (experiment 3). For each experiment, the grains were ground through 2- or 3-mm sieves, mixed into experimental diets and pelleted. The digestibility of AA was estimated by linear regression using ileal digesta samples of broiler chickens 34 d of age.
Results
Total precaecal AA digestibility of 2-mm and 3-mm ground lupin grains was 83 and 85% (native), 89 and 91% (dehulled) and 90 and 87% (toasted plus dehulled), respectively. Total precaecal AA digestibility of 2-mm and 3-mm grounded pea grains was 81 and 81% (native), 95 and 94% (dehulled) and 87 and 86% (toasted plus dehulled), respectively. Particle size had no effect on precaecal AA digestibility and no difference was found between the legume species. Dehulling increased precaecal AA digestibility up to 17%. The combination of toasting and dehulling led to maximal 8% improvement of precaecal AA digestibility. The improved digestibility through dehulling appears to be largely a result of tannin reduction.
Conclusion
In this study, dehulling improved precaecal AA digestibility, but the combination of thermal treatment (toasting) and dehulling mitigated this positive effect
Computational support for morphology-driven analysis of neurovascular pathologies
No full textStroke is the second most common cause of death and disability worldwide. Neurovascular pathologies disrupt blood supply to the brain, quickly impairing function due to the brain’s lack of energy storage. Despite significant progress in recent years, many of the exact mechanisms of these pathologies and how to treat them to achieve the best outcome are not yet fully understood. Analyzing the morphology of the pathologies, like intracranial aneurysms, can lead to new insights, as morphological features are critical in risk assessment and treatment decisions. This thesis aims to provide computational support for morphology-driven analysis to advance research, improve risk assessment, and inform treatment strategies.
The first part of the thesis addresses the necessary preprocessing steps required for analysis. A segmentation pipeline for extraction and 3D reconstruction of the vasculature from medical imaging scans is introduced, and a co-registration, meaning spatial alignment of different scans to enable combination of information from both scans, is developed.
In the second part, morphology-driven analysis for patient-specific research is presented. The impact of mirror aneurysm morphology on hemodynamics is examined, as well as the deformation of intracranial aneurysms following treatment with a novel implant. The deformation analysis is the first to specifically assess the longitudinal effects of the implant on the aneurysm and of the implant itself.
In the third part, cohort-based research is supported by morphology-driven analysis tools for subgroup selection. The tools utilize case-based reasoning and instance selection to identify subgroups within a large dataset of aneurysm cases and various morphological and other parameters. They offer support for research question generation, cohort-matching, and training. Additionally, concepts for how to support
cohort-based research in virtual reality are introduced.
The thesis provides computer support for morphology-driven analysis for neurovascular pathologies, from preprocessing to patient-specific and cohort-based research. The analyses demonstrate great potential for generating new insights for research question generation, risk assessment, and treatment decisions. The future holds much promise for addressing the analyses limitations, like lack of data, in combination with advancements in medical imaging, image processing, and novel treatments.Schlaganfälle sind die zweithäufigste Todesursache weltweit und eine häufige Ursache für kognitive Beeinträchtigungen. Neurovaskuläre Erkrankungen stören die Durchblutung des Gehirns und damit dessen Funktion, da das Gehirn keinen Energiespeicher besitzt. Viele der Mechanismen dieser Erkrankungen und deren optimalen Behandlungsmethoden noch nicht vollständig erforscht. Eine Analyse der Morphologie von Erkrankungen wie intrakraniellen Aneurysmen kann neue Einblicke liefern, da morphologische Eigenschaften eine entscheidende Rolle bei der Risikoeinschätzung und Therapieentscheidung spielen. Diese Dissertation stellt Computerunterstützung für morphologiegetriebene Analysen zur Verfügung, um die Forschung voranzutreiben, die Risikoeinschätzung zu verbessern, und Therapieentscheidungen zu optimieren.
Der erste Teil der Arbeit befasst sich mit der notwendigen Vorverarbeitung. Eine Segmentierungspipeline wird vorgestellt, die es ermöglicht, Gefäße aus bildgebenden Scans zu extrahieren und in 3D zu rekonstruieren. Außerdem wird ein Registrierungsverfahren entwickelt, das Informationen aus verschiedenen Bildgebungsscans kombiniert.
Im zweiten Teil geht es um morphologiegetriebene Analyse für patientenspezifische Forschung. Der Einfluss der Morphologie auf die Hämodynamik in Spiegelaneurysmen wird untersucht, sowie die Veränderung von intrakraniellen Aneurysmen nach der Behandlung mit einem neuartigen Implantat.
Die Deformationsanalyse ist die erste, die Veränderung und den Einfluss des Implantats auf das Aneurysma über Zeit untersuchen.
Im dritten Teil wird die kohortenbasierte Forschung durch die Entwicklung von Werkzeugen zur Auswahl von Untergruppen aus einem Datensatz mit vielen Aneurysmen und morphologischen Parametern unterstützt. Diese Werkzeuge können bei der Formulierung von Forschungsfragen, beim Kohortenmatching und bei der Ausbildung helfen. Darüber hinaus werden Konzepte für die Unterstützung von kohortenbasierter Forschung durch virtuelle Realität vorgestellt.
Die vorliegende Dissertation bietet computergestützte Lösungen für die morphologiegetriebene Analyse neurovaskulärer Erkrankungen sowohl für die Vorverarbeitung als auch für die patientenspezifische und kohortenbasierte Forschung. Die Analysen zeigen großes Potenzial, neue Erkenntnisse zu generieren, die zur Entwicklung neuer Forschungsfragen, zur Verbesserung der Risikoabschätzung und zur Optimierung von Therapieentscheidungen beitragen können. Die Zukunftsaussichten sind vielversprechend, insbesondere angesichts der derzeitigen Einschränkungen, wie z.B. der geringen Datenmenge, vor allem in Kombination mit Fortschritten in der Bildgebung, Bildverarbeitung und neuen Behandlungsmethoden.Literaturverzeichnis: Seite 145-17
A series of three liquid crystalline cubic phases with an alternating sequence of single- and double-network structures
No full textBolapolyphiles, built of a π-conjugated bistolane core with polar glycerol groups at each end and two linear alkyl side-chains in lateral positions form a series of three different cubic network phases upon side-chain elongation, the single network “Plumber's nightmare” (Pm[3 with combining macron]m, SP), the double gyroid (Ia[3 with combining macron]d, DG) and the single diamond network phase (Fd[3 with combining macron]m, SD) with the DG as an intermediate phase at the SP to SD transition