Publications by authors named "Ott F"

Background: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by cognitive decline and behavior impairments. Despite recent approvals of anti-amyloid antibodies, there remains a need for disease modifying and easily accessible therapies. Emerging evidence suggests that targeting the endocannabinoid system may hold promise for AD therapy as it plays a crucial role in different physiological processes, including learning, memory and anxiety, as well as inflammatory and immune responses.

View Article and Find Full Text PDF

Parkinson's disease (PD) is a neurodegenerative disorder with a high variability of age at onset, disease severity, and progression. This suggests that other factors, including genetic, environmental, or biological factors, are at play in PD. The loss of PINK1 causes a recessive form of PD and is typically fully penetrant; however, it features a wide range in disease onset, further supporting the existence of protective factors, endogenous or exogenous, to play a role.

View Article and Find Full Text PDF

The Hedgehog (Hh) signaling pathway is essential for maintaining homeostasis during embryogenesis and in adult tissues. In the liver, dysregulation of this pathway often leads to liver cancer development. Recent studies also suggest that disturbances in the Hh pathway can affect liver metabolism in healthy livers through interactions with other signaling pathways, such as the Wnt/β-catenin pathway.

View Article and Find Full Text PDF
Article Synopsis
  • Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
  • The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
  • Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
View Article and Find Full Text PDF

Here we present a highly customisable image-based fuzzy logic control (FLC) method for pressure-driven droplet microfluidics. The system is designed to position droplets of different sizes in microfluidic chips of varying channel size in the centre of the region of interest (ROI) using two parallel multiple input single output (MISO) FLCs. Overall, 95.

View Article and Find Full Text PDF
Article Synopsis
  • - Tenosynovial giant cell tumor (TGCT) is a rare tumor that arises from the synovium in joints and tendon sheaths, often associated with genetic changes involving the CSF1 gene; symptoms like pain and swelling are common but not specific, requiring MRI and biopsy for accurate diagnosis.
  • - A case study of a 45-year-old man initially diagnosed with Erdheim-Chester disease was later correctly identified as TGCT through whole exome sequencing, which showed a CSF1::GAPDHP64 fusion; he was treated successfully with pegylated interferon and imatinib, stabilizing his condition.
  • - Single-cell transcriptome analysis highlighted seven cell clusters and revealed that neoplastic cells attract macroph
View Article and Find Full Text PDF

Cellular electron cryo-tomography (cryoET) produces high-resolution three-dimensional images of subcellular structures in a near-native frozen-hydrated state. These three-dimensional images are obtained by recording a series of two-dimensional tilt images on a transmission electron cryo-microscope that are subsequently back-projected to form a tomogram. Key to a successful experiment is however a high-quality sample.

View Article and Find Full Text PDF

Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~ 50%. Since THAP1 encodes a transcription factor, modifiers influencing this variability likely operate at the gene expression level. This study aimed to assess the transferability of differentially expressed genes (DEGs) in neuronal cells related to pathogenic variants in the THAP1 gene, which were previously identified by transcriptome analyses.

View Article and Find Full Text PDF

Background: Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD).

Objectives: To screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes.

View Article and Find Full Text PDF

Manipulating the wavefront of coherent light incident on scattering media to enhance the imaging depth, sensitivity, and resolution is a common technique in biomedical applications. Local phase variations cause changes in the interference and can be used to create a focus inside or behind a scattering medium. We use wavefront shaping (WFS) to force constructive interference at an arbitrary location.

View Article and Find Full Text PDF

is a rare opportunistic fungal pathogen that can be isolated from various environmental sources, including soil and animal feces. Although infrequent, infections caused by can be severe in immunocompromised patients. Here, we present a case of a prosthetic joint infection (PJI) in a 74-year-old female patient caused by .

View Article and Find Full Text PDF
Article Synopsis
  • - Pemphigus foliaceus (PF) is an unusual autoimmune skin disease primarily caused by autoreactive B cells, with notable prevalence in Brazil's endemic regions, suggesting environmental factors play a significant role in its development.
  • - The study analyzed the B-cell repertoire of PF patients in various states—untreated, under treatment, and in remission—compared to healthy individuals from both endemic and non-endemic areas using advanced sequencing techniques.
  • - Results showed significantly lower clonotype diversity in the endemic patients, longer CDR3 sequences, and specific IGHV segment usage linked to active disease, indicating that both environmental influences and disease status affect immune responses.
View Article and Find Full Text PDF
Article Synopsis
  • EIF4A2 variants were found to be linked to dystonic conditions, marking a significant development in understanding the genetic factors behind these disorders.
  • A novel deletion variant of EIF4A2 was discovered in seven patients, resulting in reduced protein levels and abnormal cellular function related to translational regulation.
  • The study suggests that reduced eIF4A2 protein levels affect other molecular components, indicating a complex relationship between EIF4A2 and microRNA-mediated translation, which may contribute to dystonia.
View Article and Find Full Text PDF

In this work, the image formation in a confocal laser scanning microscope (CLSM) is investigated for custom-made multi-cylinder phantoms. The cylinder structures were fabricated using 3D direct laser writing and consist of parallel cylinders with radii of 5 and 10 μm for the respective multi-cylinder phantom, with overall dimensions of about 200×200×200 μm3. Measurements were performed for different refractive index differences and by varying other parameters of the measurement system, such as pinhole size or numerical aperture (NA).

View Article and Find Full Text PDF

Interference signals cause position errors and outages to global navigation satellite system (GNSS) receivers. However, to solve these problems, the interference source must be detected, classified, its purpose determined, and localized to eliminate it. Several interference monitoring solutions exist, but these are expensive, resulting in fewer nodes that may miss spatially sparse interference signals.

View Article and Find Full Text PDF
Article Synopsis
  • - The study investigates how long-term treatment with the cannabinoid WIN 55,212-2 affects brain metabolism and memory in healthy mice, emphasizing the need to understand cannabis effects on behavior.
  • - Results show that WIN 55,212-2 reduces glucose metabolism in key brain regions (like the hippocampus) and leads to memory deficits, particularly when administered during early adulthood.
  • - The findings highlight serious risks associated with prolonged WIN 55,212-2 use, adding to the understanding of chronic cannabinoid exposure’s impact on brain function and behavior.
View Article and Find Full Text PDF

Manipulating the incident wavefront in biomedical applications to enhance the penetration depth and energy delivery in scattering media such as biological tissue has gained a lot of attention in recent years. However, focusing inside scattering media and examining the electromagnetic field inside the medium still is an elaborate task. This is where electromagnetic field simulations that model the wavefront shaping process can help us understand how the focal near field evolves at different depths.

View Article and Find Full Text PDF

The presynaptic protein Mover/TPRGL/SVAP30 is absent in and and differentially expressed in synapses in the rodent brain, suggesting that it confers specific functions to subtypes of presynaptic terminals. In order to investigate how the absence of this protein affects behavior and learning, Mover knockout mice (KO) were subjected to a series of established learning tests. To determine possible behavioral and cognitive alterations, male and female 8-week-old KO and C57Bl/6J wildtype (WT) control mice were tested in a battery of memory and anxiety tests.

View Article and Find Full Text PDF

Mutated and unmutated IgE and IgG play different and partly opposing roles in allergy development, but the mechanisms controlling their relative production are incompletely understood. Here, we analyzed the IgE-response in murine food allergy. Deep sequencing of the complementary-determining region (CDR) repertoires indicated that an ongoing unmutated extrafollicular IgE response coexists with a germinal center response, even after long-lasting allergen challenges.

View Article and Find Full Text PDF

De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in (p.Q838*) associated with Scimitar syndrome, 46,XY partial gonadal dysgenesis (GD) and severe hyperopia.

View Article and Find Full Text PDF

Pathogenic variants in can cause dystonia with a penetrance of about 50 %. The underlying mechanisms are unknown and can be considered as means of endogenous disease protection. Since encodes a transcription factor, drivers of this variability putatively act at the transcriptome level.

View Article and Find Full Text PDF

The authors hypothesize that particularly severely compromised and asphyctic term infants in need of resuscitation may benefit from delayed umbilical cord clamping (after several minutes). Although evidence is sparse, the underlying pathophysiological mechanisms support this assumption. For this review the authors have analyzed the available research.

View Article and Find Full Text PDF

The Hedgehog signaling pathway regulates many processes during embryogenesis and the homeostasis of adult organs. Recent data suggest that central metabolic processes and signaling cascades in the liver are controlled by the Hedgehog pathway and that changes in hepatic Hedgehog activity also affect peripheral tissues, such as the reproductive organs in females. Here, we show that hepatocyte-specific deletion of the Hedgehog pathway is associated with the dramatic expansion of adipose tissue in mice, the overall phenotype of which does not correspond to the classical outcome of insulin resistance-associated diabetes type 2 obesity.

View Article and Find Full Text PDF

The synthesis and characterization of benz-1,4-dioxane crown ethers (CEs) and some of its homologues are described and analyzed. The effect of added C-atom within the CE ring (increasing the hydrophobicity of the CE ring by increasing the number of CH-units) on the Li and Mg complexation within a liquid-liquid extraction (LLE) is investigated and thermodynamically analyzed. The complex stability constant , the change of entropy Δ and enthalpy Δ, and the Gibbs energy Δ are determined.

View Article and Find Full Text PDF

Cognitive control and forward planning in particular is costly, and therefore must be regulated such that the amount of cognitive resources invested is adequate to the current situation. However, knowing in advance how beneficial forward planning will be in a given situation is hard. A way to know the exact value of planning would be to actually do it, which would ab initio defeat the purpose of regulating planning, i.

View Article and Find Full Text PDF