3,395 results match your criteria: "Ludwig-Maximilians--University of Munich[Affiliation]"

LncRNAs are involved in critical processes for cell homeostasis and function. However, it remains largely unknown whether and how the transcriptional regulation of long noncoding RNAs results in activity-dependent changes at the synapse and facilitate formation of long-term memories. Here, we report the identification of a novel lncRNA, SLAMR, that becomes enriched in CA1- but not in CA3-hippocampal neurons upon contextual fear conditioning.

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(1) Background: Caries, periapical lesions, periodontal bone loss (PBL), and endo-perio lesions are common dental findings that require an accurate diagnostic assessment to allow appropriate disease management. The purpose of this reliability study was to compare the inter- and intra-rater reliability for the detection of the above-mentioned pathologies on periapical radiographs. (2) Methods: Fourteen dentists (three with more than two years and eleven with less than two years of work experience) participated in a training workshop prior to data acquisition.

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-mutant cancers are frequent, metastatic, lethal, and largely undruggable. While interleukin (IL)-1β and nuclear factor (NF)-κB inhibition hold promise against cancer, untargeted treatments are not effective. Here, we show that human -mutant cancers are addicted to IL-1β via inflammatory versican signaling to macrophage inhibitor of NF-κB kinase (IKK) β.

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Dyslexia: Causes and Concomitant Impairments.

Brain Sci

March 2023

Institute for Social Pediatrics and Adolescent Medicine, Ludwig-Maximilians-University of Munich, Haydnstr. 5, D-80336 München, Germany.

In recent decades, theories have been presented to explain the nature of dyslexia, but the causes of dyslexia remained unclear. Although the investigation of the causes of dyslexia presupposes a clear understanding of the concept of cause, such an understanding is missing. The present paper proposes the absence of at least one necessary condition or the absence of all sufficient conditions as causes for impaired reading.

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Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.

Cereb Cortex

June 2023

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, 10117 Berlin, Germany.

The Phospholipid Phosphatase Related 4 gene (PLPPR4,  *607813) encodes the Plasticity-Related-Gene-1 (PRG-1) protein. This cerebral synaptic transmembrane-protein modulates cortical excitatory transmission on glutamatergic neurons. In mice, homozygous Prg-1 deficiency causes juvenile epilepsy.

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Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

J Clin Invest

June 2023

Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.

Article Synopsis
  • STAT2 is a crucial transcription factor activated by specific interferons, and 23 patients with mutations leading to a complete loss of STAT2 function were studied.
  • These patients suffered from severe immune issues, including disastrous reactions to live vaccines and deadly viral infections like critical influenza and COVID-19 pneumonia.
  • The study emphasizes the danger of AR complete STAT2 deficiency, as it causes significant inflammation and high mortality rates, especially in young children, due to unregulated viral responses.
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Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

Neuromuscul Disord

April 2023

The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle Upon Tyne, UK. Electronic address:

Dysferlinopathy is a muscle disease characterized by a variable clinical presentation and is caused by mutations in the DYSF gene. The Jain Clinical Outcome Study for Dysferlinopathy (COS) followed the largest cohort of patients (n=187) with genetically confirmed dysferlinopathy throughout a three-year natural history study, in which the patients underwent muscle function tests and muscle magnetic resonance imaging (MRI). We previously described the pattern of muscle pathology in this population and established a series of imaging criteria for diagnosis.

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Background: Endofaster is an innovative technology that can be combined with upper gastrointestinal endoscopy (UGE) to perform gastric juice analysis and real-time detection of ().

Aim: To assess the diagnostic performance of this technology and its impact on the management of in the real-life clinical setting.

Methods: Patients undergoing routine UGE were prospectively recruited.

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Background: Human papilloma virus (HPV)-related cancers are global health challenge. Insufficient comprehension of these cancers has impeded the development of novel therapeutic interventions. Bioinformatics empowered us to investigate these cancers from new entry points.

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Background Tricuspid regurgitation (TR) frequently develops in patients with long-standing pulmonary hypertension, and both pathologies are associated with increased morbidity and mortality. This study aimed to improve prognostic assessment in patients with severe TR undergoing transcatheter tricuspid valve intervention (TTVI) by relating the extent of TR to pulmonary artery pressures. Methods and Results In this multicenter study, we included 533 patients undergoing TTVI for moderate-to-severe or severe TR.

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Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudometabolic myopathy or asymptomatic hyperCKaemia. In this retrospective, observational, multicentre study we gathered a large European cohort of patients with ANO5-related muscle disease to study the clinical and genetic spectrum and genotype-phenotype correlations. We included 234 patients from 212 different families, contributed by 15 centres from 11 European countries.

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Article Synopsis
  • The MAPT gene on chromosome 17 has two variants (H1 and H2), with H1 linked to a higher risk of tauopathies and Parkinson's disease (PD).
  • The study investigated how these haplotypes affect the expression of MAPT and SNCA (α-synuclein) in postmortem brain tissues of PD patients compared to controls, using real-time qPCR and Western blotting techniques.
  • Results showed increased MAPT mRNA levels in H1 homozygotes, while H2 was linked to higher antisense MAPT-AS1 expression, but no direct connection was found between MAPT overexpression and PD status, indicating that further research is needed.
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Background: Utrophin, a dystrophin homolog, is consistently upregulated in muscles of patients with Duchenne muscular dystrophy (DMD) and is believed to partially compensate for the lack of dystrophin in dystrophic muscle. Even though several animal studies support the idea that utrophin can modulate DMD disease severity, human clinical data are scarce.

Methods: We describe a patient with the largest reported in-frame deletion in the DMD gene, including exons 10-60 and thus encompassing the entire rod domain.

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Human labial glands consist of saliva-secreting cells which are formed by serous and predominantly mucous glandular cells. The following excretory duct system converts the isotonic saliva into a hypotonic fluid. Liquids are transported across the membrane of epithelial cells by paracellular or transcellular mode of action.

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Introduction: Most lung diseases are serious conditions resulting from genetic and environmental causes associated with high mortality and severe symptoms. Currently, treatments available have a palliative effect and many targets are still considered undruggable. Gene therapy stands as an attractive approach to offering innovative therapeutic solutions.

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Oral inflammation and exhaled nitric oxide fraction: a cross-sectional study.

ERJ Open Res

March 2023

Institute and Clinic for Occupational, Social and Environmental Medicine, University Hospital, LMU Munich, Munich, Germany.

https://bit.ly/3BhMP6f.

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Patients with non-small cell lung cancer (NSCLC) who carry epidermal growth factor receptor (EGFR) mutations can benefit significantly from EGFR tyrosine kinase inhibitors (EGFR TKIs). However, it is unclear whether patients without EGFR mutations cannot benefit from these drugs. Patient-derived tumor organoids (PDOs) are reliable tumor models that can be used in drug screening.

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Inhalation chambers (ICs) are regularly used in veterinary medicine for the inhalative treatment of chronic respiratory diseases in dogs and cats. Since therapy is usually required lifelong and daily, devices are frequently in use. The aim of this study was to identify bacterial contamination of ICs used for cats and dogs in relation to the applied cleaning measures.

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Objective: Over the last decade, active surveillance (AS) of low-risk prostate cancer has been increasing. The mpMRI fusion-guided biopsy of the prostate (FBx) is considered to be the gold standard in preoperative risk stratification. However, the role of FBx remains unclear in terms of risk stratification of low-risk prostate cancer outside high-volume centers.

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modulates systemic immune signaling in .

Front Plant Sci

February 2023

Department of Environmental Science, Institute of Biochemical Plant Pathology, Helmholtz Munich, Neuherberg, Germany.

Pectin- and hemicellulose-associated structures of plant cell walls participate in defense responses against pathogens of different parasitic lifestyles. The resulting immune responses incorporate phytohormone signaling components associated with salicylic acid (SA) and jasmonic acid (JA). SA plays a pivotal role in systemic acquired resistance (SAR), a form of induced resistance that - after a local immune stimulus - confers long-lasting, systemic protection against a broad range of biotrophic invaders.

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This paper presents a computationally feasible method to compute rigorous bounds on the interval-generalization of regression analysis to account for epistemic uncertainty in the output variables. The new iterative method uses machine learning algorithms to fit an imprecise regression model to data that consist of intervals rather than point values. The method is based on a single-layer interval neural network which can be trained to produce an interval prediction.

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Background: Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany.

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Leishmaniasis is an infectious disease responsible for a huge rate of morbidity and mortality in humans. Chemotherapy consists of the use of pentavalent antimonial, amphotericin B, pentamidine, miltefosine, and paromomycin. However, these drugs are associated with some drawbacks such as high toxicity, administration by parenteral route, and most seriously the resistance of some strains of the parasite to them.

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