Publications by authors named "Mucke M"

The non-invasive assessment of disease severity remains pivotal in patients with chronic liver disease (CLD) as it has wide implications in predicting liver-related complications or death. Shear-wave elastography (SWE) is an emerging ultrasound-based method to non-invasively measure liver stiffness. The aim of our study was to evaluate two-dimensional (2D) and point (p) SWE to predict the presence of esophageal varices (EV) or clinically significant portal hypertension (CSPH).

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Context: Palliative care aims to improve the quality of life in patients with progressive diseases such as cancer. Effective cancer pain management is a major challenge of palliative treatment. Empirical data on the prevalence of cancer pain, the efficiency of pain treatment and influencing factors are scarce.

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Background: Hospitalized patients with end-stage liver disease are at risk of malnutrition, reduced body function, and cognitive impairment due to HE. This combination may have an impact on in-hospital falls and mortality. The purpose of this study was to identify factors associated with the risk of falls and to analyze the consequences regarding in-hospital mortality.

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Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motoneuron. It is associated with a life expectancy of 2-4 years after diagnosis. Individuals experience paralysis, dysphagia, respiratory failure and loss of communicative function, rendering advance care planning (ACP) critically important.

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Article Synopsis
  • * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
  • * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
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  • German-speaking experts in plastic surgery convene annually at a major conference to discuss the latest advancements and their impact on the field, specifically the DGPRÄC and VDÄPC joint meeting.
  • A retrospective analysis of 299 abstract titles from the 2023 conference revealed key themes and connections within the field, highlighted by prominent keywords like 'Surgery,' 'Breast,' and 'Reconstruction.'
  • The study utilized network analysis to uncover significant research areas and relationships within the data, emphasizing the importance of this method in understanding complex information in plastic surgery.
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  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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Background: Patients with cirrhosis are susceptible to develop bacterial infections that trigger acute decompensation (AD) and acute-on-chronic liver failure (ACLF). Infections with multidrug-resistant organisms (MDRO) are associated with deleterious outcome. MDRO colonisation frequently proceeds MDRO infections and antibiotic therapy has been associated with MDRO colonisation.

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  • The German Academy for Rare Neurological Diseases (DASNE) was established in 2017 to improve personalized care for patients with rare neurological diseases (RND) by creating a national network of expert professionals.
  • A collaborative Delphi process engaged 37 experts and stakeholders to identify and rank key topics for optimal patient care, resulting in a set of 38 recommendations.
  • The finalized recommendations cover various aspects of RND management, including healthcare structure, interdisciplinary collaboration, diagnostics, and patient advocacy, aimed at enhancing the overall treatment landscape for these conditions.
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Acute-on-chronic liver failure (ACLF) is associated with increased mortality. Specific therapy options are limited. Hypoxia-inducible factor 1 alpha (HIF-1α) has been linked to the pathogenesis of chronic liver disease (CLD), but the role of HIF-1α in ACLF is poorly understood.

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Background: Neuropathic pain is difficult to diagnose and treat. Small fiber neuropathy (SFN) flies under the radar of nerve conduction studies.

Objectives: The importance of a structured patient history and physical examination in the context of neuropathic pain is emphasized.

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Background: The clinical picture of people with Ehlers-Danlos syndromes (EDS) is complex and involves a variety of potential causes of pain. This poses major challenges to patients and healthcare professionals alike in terms of diagnosis and management of the condition.

Objectives: The aim of the article was to provide an overview of the specific pain management needs of patients with EDS and address their background.

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Article Synopsis
  • Rare diseases are often diagnosed late due to their complex and varied symptoms, making diagnostic decision support systems (DDSS) a promising tool to speed up the process, though integration with existing systems remains a hurdle.
  • A systematic search found eight articles on DDSS that can assist in diagnosing rare diseases without needing electronic patient records, highlighting their pros and cons.
  • While tools like symptom checkers exist, they still face challenges such as data protection concerns and low acceptance, but they hold great potential for improving diagnosis rates for rare diseases.
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Selective and feasible reactions are among the top targets in synthesis planning. Mayr's approach to quantifying chemical reactivity has greatly facilitated the planning process, but reactivity parameters for new compounds require time-consuming experiments. In the past decade, data-driven modeling has been gaining momentum in the field, as it shows promise in terms of efficient reactivity prediction.

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The evolution of charge carriers in photoexcited room temperature ZnO nanoparticles in solution is investigated using ultrafast ultraviolet photoluminescence spectroscopy, ultrafast Zn K-edge absorption spectroscopy, and molecular dynamics (MD) simulations. The photoluminescence is excited at 4.66 eV, well above the band edge, and shows that electron cooling in the conduction band and exciton formation occur in <500 fs, in excellent agreement with theoretical predictions.

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Gene therapy has garnered increasing interest over recent decades. Several therapies employing gene transfer mechanisms have been developed, and, of these, adeno-associated virus (AAV) vectors have demonstrated viability for use with in vivo gene therapy. Several AAV-based therapeutics have received regulatory approval in the last few years including those for retinal disease, spinal muscular atrophy or aromatic L-amino acid decarboxylase deficiency.

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Background: The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic celiac artery decompression. However, surgical success rates vary widely between patients, therefore adequate selection of patients is essential to improve surgical outcome.

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Objectives: Fatigue is a frequent and burdensome symptom in patients with advanced disease in palliative care. However, it is under-assessed and undertreated in clinical practice, even though many treatment options have been identified in systematic reviews. Care pathways with defined and standardised steps have been recommended for effective management in the clinical setting.

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Article Synopsis
  • The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
  • The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
  • The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.
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Rational/aims And Objectives: Ward rounds are a core routine for interprofessional communication and clinical care planning: Health care professionals and patients meet regularly and it encourages patients to actively participate. In paediatric oncology, the long treatment process, the serious diagnosis, and involvement of both patients and their parents in shared-decision-making require specific ward round skills. Despite its high value for patient-centred care, a universal definition of ward round is lacking.

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