3,392 results match your criteria: "University of Bonn School of Medicine & University Hospital Bonn[Affiliation]"

Student ultrasound education, current view and controversies. Role of Artificial Intelligence, Virtual Reality and telemedicine.

Ultrasound J

September 2024

Department Allgemeine Innere Medizin (DAIM), Kliniken Hirslanden Beau Site, Salem und Permanence, Bern, Switzerland.

Article Synopsis
  • The digitization of medicine, especially through telemedicine, VR, and AI, is set to revolutionize ultrasound diagnostics and education in the coming years.
  • The paper discusses the potential benefits and challenges of these technologies, emphasizing the need for proper management and teaching strategies.
  • It offers an overview of current views and debates related to the integration of telemedicine, VR, and AI in ultrasound training for students.
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Environmentally relevant concentrations of perfluorobutane sulfonate impair locomotion behaviors and healthspan by downregulating mitophagy in C. elegans.

J Hazard Mater

December 2024

Department of Toxicology of School of Public Health and Department of Gynecologic Oncology of Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China. Electronic address:

Article Synopsis
  • PFBS, a chemical in the PFAS group, is being used as an alternative to PFOS, but may contribute to health issues, particularly in aging.
  • Research using C. elegans showed that PFBS exposure leads to impaired healthspan and may activate aging mechanisms linked to dysfunction in the pink-1 mediated mitophagy pathway.
  • Treatment with Urolithin A, a mitophagy booster, was able to reverse the negative effects of PFBS and improve healthspan, suggesting that enhancing mitophagy could be a potential approach to combat PFBS-related aging.
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Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B.

N Engl J Med

September 2024

From the Departments of Medicine and of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (A.C.), and Pfizer, Collegeville (J.F., J.R.) - both in Pennsylvania; the Division of Hematology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey (K.K.); the Department of Hematology, Hemophilia Care and Research, Necker Hospital, Institut Imagine, Paris (L.F.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); the Department of Translational Medicine, Lund University, Lund, and the Department of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Malmö - both in Sweden (J.A.); Instituto de Hematologia do Estado do Rio de Janeiro, Rio de Janeiro (M.H.C.), and Hemocentro UNICAMP, Department of Internal Medicine, School of Medical Sciences, University of Campinas, Campinas (M.C.O.) - both in Brazil; the Departments of Health Research Methods, Evidence, and Impact and of Medicine, McMaster University, Hamilton, ON (A. Iorio), and the Division of Hematology, St. Michael's Hospital, University of Toronto, Toronto (J.T.) - both in Canada; the Blood Transfusion Center, National Reference Center for Congenital Bleeding Disorders, Laiko General Hospital, Athens (O.K.-F.); Vivantes Hospital in Friedrichshain, Berlin (R.K.), and the Institute of Experimental Hematology and Transfusion Medicine, University Hospital Bonn, and the Center for Rare Diseases Bonn, University Clinic Bonn, Bonn (J.B.O.) - all in Germany; Indiana Hemophilia and Thrombosis Center, Indianapolis (A.D.S.); the Hemostasis and Thrombosis Unit, Division of Hematology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels (C.H.); the Division of Hematology, National Center for Child Health and Development, Tokyo (A. Ishiguro); the Departments of Medicine and of Laboratory Medicine, University of California, San Francisco, San Francisco (A.D.L.); the Faculty of Medicine and Health, Central Clinical School, and the Gene and Stem Cell Therapy Program, Centenary Institute, University of Sydney, and the Department of Cell and Molecular Therapies, Royal Prince Alfred Hospital - all in Sydney (J.E.J.R.); Pfizer, New York (A.F.); Pfizer, Groton, CT (J.M.); Pfizer, Rome (F.B.); and Pfizer, Cambridge, MA (P.S.).

Article Synopsis
  • Fidanacogene elaparvovec is a genetic therapy for hemophilia B that showed promising results in a phase 1-2a study, maintaining high levels of factor IX activity.* -
  • In a phase 3 study involving men aged 18 to 65 with severe hemophilia B, the therapy led to a significant 71% reduction in bleeding episodes over 15 months compared to standard prophylactic treatment.* -
  • Despite some participants needing glucocorticoids for side effects, the therapy was generally safe, with no serious adverse infusion events reported.*
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Article Synopsis
  • Catheter ablation for atrial fibrillation (AF) is widely researched, and this expert opinion aims to enhance future studies by applying lessons from past research and promoting consistency in methodologies.
  • The effectiveness of these studies can improve with clearly defined endpoints and a thorough understanding of emerging technologies, as well as a need to revisit some current research methods.
  • A panel of clinical experts has produced recommendations highlighting essential elements such as documenting clinical details, managing medications during trials, and assessing outcomes to aid in the standardization and quality of AF catheter ablation studies.
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Biologging has proven to be a powerful approach to investigate diverse questions related to movement ecology across a range of spatiotemporal scales and increasingly relies on multidisciplinary expertise. However, the variety of animal-borne equipment, coupled with little consensus regarding analytical approaches to interpret large, complex data sets presents challenges and makes comparison between studies and study species difficult. Here, we present a combined hardware and analytical approach for standardizing the collection, analysis, and interpretation of multisensor biologging data.

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Sex dependence of postoperative pulmonary complications - A post hoc unmatched and matched analysis of LAS VEGAS.

J Clin Anesth

December 2024

Amsterdam University Medical Center, Department of Anaesthesiology, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands; Amsterdam University Medical Center, Department of Intensive Care, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.

Article Synopsis
  • The study aimed to investigate whether there are differences in postoperative pulmonary complications (PPCs) between males and females following surgery under general anesthesia, using data from the LAS VEGAS study involving 146 hospitals across 29 countries.
  • A total of 9,697 patients were analyzed in two cohorts: an unmatched cohort (55.1% female, 44.9% male) and a matched cohort (50% female and male), finding no significant differences in PPC rates between the genders in both cohorts.
  • The study concluded that, in this international patient population, the incidence of PPCs did not differ significantly between males and females, as well as noting comparable hospital stays and mortality rates.*
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This review article provides insights into the role of genetic diagnostics in adult mental health disorders. The importance of genetic factors in the development of mental illnesses, from rare genetic syndromes to common complex genetic disorders, is described. Current clinical characteristics that may warrant a genetic diagnostic work-up are highlighted, including intellectual disability, autism spectrum disorders and severe psychiatric conditions with specific comorbidities, such as organ malformations or epilepsy.

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The Global ECT MRI Research Collaboration (GEMRIC) has collected clinical and neuroimaging data of patients treated with electroconvulsive therapy (ECT) from around the world. Results to date have focused on neuroimaging correlates of antidepressant response. GEMRIC sites have also collected longitudinal cognitive data.

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Artificial Intelligence-Supported Development of Health Guideline Questions.

Ann Intern Med

November 2024

Clinical Epidemiology and Research Center, Humanitas University and Research Hospital, Milan, Italy; and Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Immunology and Allergology, Berlin, Germany (H.J.S.).

Article Synopsis
  • Researchers explored how large language models (LLMs) can aid in generating guideline questions for allergic rhinitis by using online search data and direct LLM interactions.
  • They identified 3975 unique search queries, distilling them to 37 relevant questions, with 6 new questions prioritized for the 2024 ARIA guidelines that were not initially considered by the expert panel.
  • The study suggests that LLMs can complement traditional methods in developing clinical guideline questions, although the findings are limited to a single case study.
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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Ann Neurol

September 2024

Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.

Article Synopsis
  • - This study examines the link between rare variants in the cullin-3 ubiquitin ligase (CUL3) gene and neurodevelopmental disorders (NDDs), gathering data from multiple centers to explore genetic mutations and their clinical impacts.
  • - Researchers identified 37 individuals with CUL3 variants, most of which result in loss-of-function (LoF), leading to intellectual disabilities and possibly autistic traits; specific mechanisms affecting protein stability were also investigated.
  • - The findings enhance the understanding of NDDs associated with CUL3 mutations, suggesting that LoF variants are the main cause, which could help inform future diagnostics and treatment strategies.
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Association of Neurogranin and BACE1 With Clinical Cognitive Decline in Individuals With Subjective Cognitive Decline.

Neurology

October 2024

From the Department of Psychiatry and Neurosciences (X.W., S.D.F., L.-S.S., L.P., O.P.), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin; Experimental and Clinical Research Center (ECRC) (X.W., S.D.F., L.-S.S., L.P., O.P.); German Center for Neurodegenerative Diseases (DZNE) (S.D.F., J.P., E.J.S., S.A., O.P.); Department of Psychiatry and Psychotherapy (J.P., E.J.S., S.A.), Charité, Berlin; Department of Psychiatry and Psychotherapy (J.P.), School of Medicine, Technical University of Munich, Germany; University of Edinburgh and UK DRI (J.P.), United Kingdom; German Center for Neurodegenerative Diseases (DZNE) (A. Schneider, K.F., F.J., A. Spottke, N.R.-K., F.B., M.W., S.W., A. Ramirez, L.K., M.S.), Bonn; Department of Neurodegenerative Disease and Geriatric Psychiatry (A. Schneider, K.F., M.W., S.W., A. Ramirez, L.K., M.S.), University of Bonn Medical Center; German Center for Neurodegenerative Diseases (DZNE) (J.W.), Goettingen; Department of Psychiatry and Psychotherapy (J.W., N.H.), University Medical Center Goettingen, University of Goettingen, Germany; Neurosciences and Signaling Group (J.W.), Institute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, Portugal; Department of Psychiatry (F.J., A. Rostamzadeh), Medical Faculty, University of Cologne; Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) (F.J., A. Ramirez), University of Cologne, Köln; German Center for Neurodegenerative Diseases (DZNE) (E.D., W.G., E.I.I.), Magdeburg; Institute of Cognitive Neurology and Dementia Research (IKND) (E.D., E.I.I.), Otto-von-Guericke University, Magdeburg; Department for Psychiatry and Psychotherapy (E.I.I.), University Clinic Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (K.B., M.E., R.P.), Munich; Institute for Stroke and Dementia Research (ISD) (K.B., D.J., M.E.), and Department of Psychiatry and Psychotherapy (R.P., B.-S.R.), University Hospital, LMU Munich; Munich Cluster for Systems Neurology (SyNergy) (R.P.), Germany; Ageing Epidemiology Research Unit (AGE) (R.P.), School of Public Health, Imperial College London; Sheffield Institute for Translational Neuroscience (SITraN) (B.-S.R.), University of Sheffield, United Kingdom; Department of Neuroradiology (B.-S.R.), University Hospital, LMU Munich; German Center for Neurodegenerative Diseases (DZNE) (S.J.T., I.K., D.G.), Rostock; Department of Psychosomatic Medicine (S.J.T., I.K., D.G.), Rostock University Medical Center; German Center for Neurodegenerative Diseases (DZNE) (C.L., M.H.J.M.), Tübingen; Section for Dementia Research (C.L.), Hertie Institute for Clinical Brain Research and Department of Psychiatry and Psychotherapy (C.L., M.H.J.M.), University of Tübingen; Department of Neurology (A. Spottke), University of Bonn, Germany; Luxembourg Centre for Systems Biomedicine (LCSB) (M.T.H.), University of Luxembourg, Belvaux; Division of Neurogenetics and Molecular Psychiatry (A. Ramirez), Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany; and Department of Psychiatry & Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases (A. Ramirez), San Antonio, TX.

Article Synopsis
  • The study investigates the potential of cerebrospinal fluid (CSF) biomarkers, particularly neurogranin and BACE1, to predict cognitive decline in individuals with subjective cognitive decline (SCD) before developing Alzheimer's disease (AD).
  • Researchers analyzed data from 530 participants and found that higher levels of neurogranin and its ratio to BACE1 were linked to faster cognitive decline and increased risk of progressing from SCD to mild cognitive impairment (MCI).
  • The findings suggest that monitoring neurogranin levels could help in identifying those at greater risk for cognitive decline, potentially aiding in earlier diagnosis and intervention for Alzheimer's disease.
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WONOEP appraisal: Genetic insights into early onset epilepsies.

Epilepsia

November 2024

Saul R. Korey Department of Neurology, Isabelle Rapin Division of Child Neurology, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA.

Early onset epilepsies occur in newborns and infants, and to date, genetic aberrations and variants have been identified in approximately one quarter of all patients. With technological sequencing advances and ongoing research, the genetic diagnostic yield for specific seizure disorders and epilepsies is expected to increase. Genetic variants associated with epilepsy include chromosomal abnormalities and rearrangements of various sizes as well as single gene variants.

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Maintenance and transformation of representational formats during working memory prioritization.

Nat Commun

September 2024

Department of Neuropsychology, Institute of Cognitive Neuroscience, Faculty of Psychology, Ruhr University Bochum, 44801, Bochum, Germany.

Visual working memory depends on both material-specific brain areas in the ventral visual stream (VVS) that support the maintenance of stimulus representations and on regions in the prefrontal cortex (PFC) that control these representations. How executive control prioritizes working memory contents and whether this affects their representational formats remains an open question, however. Here, we analyzed intracranial EEG (iEEG) recordings in epilepsy patients with electrodes in VVS and PFC who performed a multi-item working memory task involving a retro-cue.

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Benchmarking whole exome sequencing in the German network for personalized medicine.

Eur J Cancer

November 2024

Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany; German Cancer Consortium (DKTK), Germany. Electronic address:

Article Synopsis
  • Whole Exome Sequencing (WES) is a powerful tool in cancer diagnostics that allows for comprehensive analysis of genes, improving the detection of complex biomarkers compared to traditional panel-based methods.
  • A study analyzing tissue specimens across 21 NGS centers showed that, although there was a 76% agreement in somatic variant calling, refining filtering criteria improved this to 88%, highlighting the importance of filter settings in variant detection.
  • The reliability of detecting specific genomic changes (like CNAs and complex biomarkers) varied among labs, emphasizing the need for improved bioinformatics processes and collaborative testing to minimize discrepancies in future analyses.
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Informing Endpoints for Clinical Trials of Geographic Atrophy.

Annu Rev Vis Sci

September 2024

Department of Ophthalmology, Center for Public Health, Queen's University, Belfast, Northern Ireland, United Kingdom; email:

Geographic atrophy (GA), the non-neovascular advanced form of age-related macular degeneration, remains an important disease area in which treatment needs are currently unmet. Recent clinical trials using drugs that target the complement pathway have shown modest yet consistent reductions in GA expansion but without commensurate changes in measures of visual function. In this review, we summarize information from the wide range of studies describing the characteristics of GA morphology and enumerate the factors influencing the growth rates of lesions and the directionality of expansion.

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Article Synopsis
  • The Mindfulness-Based Stress Reduction (MBSR) Program for breast cancer survivors (BCS) was evaluated in a randomized clinical trial to see if it improves cognitive performance compared to Breast Cancer Education Support (BCES) and Usual Care (UC).
  • While all groups showed improvements in cognitive performance and symptom reductions, there were no significant differences in cognitive outcomes between the groups.
  • The MBSR group experienced the highest reduction in fatigue, suggesting that while cognitive performance may not have significantly differed, the program was beneficial for overall well-being among participants.
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Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

Am J Med Genet A

February 2025

Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.

Article Synopsis
  • * So far, 32 cases have been documented, with significant differences in symptoms observed among patients.
  • * The study analyzed nine patients and discovered seven new variants of the ZNF462 gene, finding that they share notable facial similarities, and calls for more research to understand the long-term effects of WKS.
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Article Synopsis
  • Clinical genetic testing helps find cancer risks by identifying gene changes, but some of these changes are confusing because we don't know what they mean (called VUS).
  • Researchers studied a huge number of breast cancer patients and healthy people to understand these confusing gene changes better.
  • They found that their method of analyzing data closely matches what other experts say about which gene changes are harmless or harmful, giving more information about 785 unclear changes.
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Specific microRNA Profile Associated with Inflammation and Lipid Metabolism for Stratifying Allergic Asthma Severity.

Int J Mol Sci

August 2024

Department of Basic Medical Sciences, Institute for Applied Molecular Medicine Nemesio Díez, School of Medicine, Universidad San Pablo-CEU, CEU Universities, Urbanización Montepríncipe, 28668 Boadilla del Monte, Spain.

The mechanisms underlying severe allergic asthma are complex and unknown, meaning it is a challenge to provide the most appropriate treatment. This study aimed to identify novel biomarkers for stratifying allergic asthmatic patients according to severity, and to uncover the biological mechanisms that lead to the development of the severe uncontrolled phenotype. By using miRNA PCR panels, we analyzed the expression of 752 miRNAs in serum samples from control subjects ( = 15) and mild ( = 11) and severe uncontrolled ( = 10) allergic asthmatic patients.

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Background: Breathlessness frequently becomes severe among people with respiratory disease. Mirtazapine, a widely used antidepressant, has shown promise in the modulation of respiratory sensation and the response to it, as well as reducing feelings of panic, which often accompanies breathlessness. We aimed to determine the effectiveness of mirtazapine to alleviate severe persisting breathlessness.

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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

Orphanet J Rare Dis

September 2024

Rare Diseases International, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, France.

Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for actions.

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Background: Multiple system atrophy (MSA), an atypical parkinsonian syndrome, is a rapidly progressive neurodegenerative disease with currently no established fluid biomarkers available. MSA is characterized by an oligodendroglial α-synucleinopathy, progressive neuronal cell loss and concomitant astrocytosis. Here, we investigate glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as fluid biomarkers for differential diagnosis, assessment of clinical disease severity and prediction of disease progression in MSA.

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Prognostic value of Alzheimer's disease plasma biomarkers in the oldest-old: a prospective primary care-based study.

Lancet Reg Health Eur

October 2024

Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

Background: Blood-based biomarkers offer a promising, less invasive, and more cost-effective alternative for Alzheimer's disease screening compared to cerebrospinal fluid or imaging biomarkers. However, they have been extensively studied only in memory clinic-based cohorts. We aimed to validate them in a more heterogeneous, older patient population from primary care.

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