A5052376806- Nerve injury and regeneration
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Cell Image Analysis Techniques
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Molecular Biology Techniques and Applications
- Pain Mechanisms and Treatments
- Advanced Fluorescence Microscopy Techniques
- Retinal Development and Disorders
- Single-cell and spatial transcriptomics
- Wnt/β-catenin signaling in development and cancer
- Innovations in Medical Education
- Healthcare cost, quality, practices
- Genetic Neurodegenerative Diseases
- Memory and Neural Mechanisms
- Artificial Intelligence in Healthcare and Education
- Mitochondrial Function and Pathology
- Dental Research and COVID-19
- Neurogenetic and Muscular Disorders Research
- Anatomy and Medical Technology
- Child Development and Digital Technology
- Neuroendocrine regulation and behavior
- Neurogenesis and neuroplasticity mechanisms
Universität Ulm
2020-2024
Phelan-McDermid syndrome (PMS) is an infrequently described that presents with a disturbed development, neurological and psychiatric characteristics, sometimes other comorbidities. As part of the development European medical guidelines we studied definition, phenotype, genotype-phenotype natural history syndrome. The number confirmed diagnoses PMS in different countries was also assessed it could be concluded underdiagnosed. incidence estimated to at least 1 30,000. Next generation...
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and autistic-like behaviors primarily caused haploinsufficiency of SHANK3 gene. Currently, there no specific treatment for PMS, highlighting the need better understanding functions underlying pathophysiological mechanisms in brain. We hypothesize that may lead to alterations inhibitory system, which could be linked excitatory/inhibitory imbalance observed models...
Article25 January 2021Open Access Transparent process Activation of the medial preoptic area (MPOA) ameliorates loss maternal behavior in a Shank2 mouse model for autism Stefanie Grabrucker Institute Anatomy and Cell Biology, Ulm University, Ulm, Germany Department Biological Sciences, University Limerick, Ireland Search more papers by this author Jessica Pagano CNR Neuroscience Institute, Milan, Italy Medical Biotechnology Translational Medicine, Johanna Schweizer...
Abstract Background Post mortem human brain tissue is an essential resource to study cell types, connectivity as well subcellular structures down the molecular setup of central nervous system especially with respect plethora diseases. A key method immunostaining fluorescent dyes, which allows high-resolution imaging in three dimensions multiple simultaneously. Although there are large collections formalin-fixed brains, research often limited because several conditions arise that complicate...
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on organization for individuals with PMS. We indicate that should consider domains, which can be done within framework International Classification Functioning, Disability Health (ICF). This assesses disability functioning as outcome individual's interactions other factors. different roles care, such...
Amyotrophic Lateral Sclerosis (ALS) is mainly characterized by the degeneration of corticospinal neurons and spinal α-motoneurons; vulnerable cells display prominent pTDP-43 inclusions. Evidence gathered from genetics, murine models, iPSC-derived point to early involvement synapses in disease course their crucial role pathogenic cascade. However, pathology studies, with specimens large post-mortem cohorts, mapping pattern synaptic disturbances over clinical neuropathological hallmarks...
Abstract Synaptic dysfunction is a key feature of SHANK-associated disorders such as autism spectrum disorder, schizophrenia, and Phelan-McDermid syndrome. Since detailed knowledge their effect on synaptic nanostructure remains limited, we aimed to investigate alterations in ex11|SH3 SHANK3-KO mice combining expansion STED microscopy. This enabled high-resolution imaging mosaic-like arrangements formed by proteins both human murine brain tissue. We found distinct shape-profiles fingerprints...
SHANKs are major scaffolding proteins at postsynaptic densities (PSDs) in the central nervous system. Mutations all three family members have been associated with neurodevelopmental disorders such as autism spectrum (ASDs). Despite pathophysiological importance of SHANK2 and SHANK3 mutations humans, research on expression these is mostly based rodent model organisms.
Abstract The Shank3 gene encodes the major postsynaptic scaffolding protein SHANK3. Its mutation causes a syndromic form of autism spectrum disorder (ASD): Phelan-McDermid Syndrome (PMDS). It is characterized by global developmental delay, intellectual disorders (ID), ASD behavior, affective symptoms, as well extra-cerebral symptoms. Although deficiency variety molecular alterations, they do not suffice to explain all clinical aspects this heterogenic syndrome. Since expression alterations...
Abstract Background Autism Spectrum Disorders (ASD) patients experience disturbed nociception in the form of either hyposensitivity to pain or allodynia. A substantial amount processing somatosensory and nociceptive stimulus takes place dorsal spinal cord. However, many these circuits are not very well understood context ASD. Methods We have used a Shank2 −/− mouse model, which displays set phenotypes reminiscent ASD, performed behavioural microscopic analysis investigate role horn circuitry...
Abstract The entorhinal cortex (EC) is the main interface between sensory association areas of neocortex and hippocampus. It crucial for evaluation processing data long‐term memory consolidation shows damage in many brain diseases, example, neurodegenerative such as Alzheimer's disease developmental disorders. pre‐alpha layer EC humans (layer II) displays a remarkable distribution neurons islands. These cellular islands give rise to portion perforant path—the major reciprocal stream...
Artificial intelligence is rapidly transforming the field of health science and medical education, but less known about students´ competencies related to knowledge, skills attitudes towards application AI tools like ChatGPT. Therefore, a unicentric questionnaire-based cross-sectional study was applied students in (n = 207). The data revealed that while most were familiar with ChatGPT (66.7%), other significantly or utilised for purposes. Students approached rather informally, often...
Abstract Immunohistochemistry on archival human brains is often limited because several conditions arise that complicate the use for high-resolution fluorescence microscopy. In this study, we developed a novel clearing approach immunofluorescence-based analysis of perfusion- and immersion-fixed post mortem brain tissue, termed hCLARITY. hCLARITY optimized specificity by reducing off-target labeling yields very sensitive stainings in sections allowing super-resolution microscopy with...
The COVID-19 pandemic required adjustments and limitations in university teaching, thereby challenging teaching concepts anatomy requiring in-person contact, including the gross course. Therefore, present study investigates impact of COVID-19-associated on students' perception course's importance quality, preferred learning setting outcome, their motivation to involve themselves academic activities, becoming a future peer-teacher Using paper-based questionnaires Ulm, Germany, 397 (response...
Abstract Patients suffering from Autism Spectrum Disorders (ASD) experience disturbed nociception in form of either hyposensitivity to pain or hypersensitivity and allodynia. We have determined that Shank2-KO mice, which recapitulate the genetic behavioural disturbances ASD, display increased sensitivity formalin thermal, but not mechanical demonstrate high levels Shank2 expression identifies a subpopulation neurons murine human dorsal spinal cord, composed mainly by glycinergic interneurons...