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22 pages, 1825 KB  
Review
Diagnostic and Therapeutic Options in Myocarditis and Inflammatory Cardiomyopathy
by Heinz-Peter Schultheiss, Felicitas Escher, Ganna Aleshcheva, Gordon Wiegleb and Christian Baumeier
Biomedicines 2026, 14(3), 691; https://doi.org/10.3390/biomedicines14030691 - 17 Mar 2026
Viewed by 450
Abstract
Myocarditis and inflammatory cardiomyopathy are inflammatory diseases of the heart muscle that can have both infectious and non-infectious causes. They can be caused by an unresolved viral infection or other infection, or they can be autoimmune, toxic, or allergic in nature. The specific [...] Read more.
Myocarditis and inflammatory cardiomyopathy are inflammatory diseases of the heart muscle that can have both infectious and non-infectious causes. They can be caused by an unresolved viral infection or other infection, or they can be autoimmune, toxic, or allergic in nature. The specific identification of the pathogen and/or confirmation of inflammation can only be achieved through direct tissue analysis using endomyocardial biopsy (EMB), as neither detection of the virus nor assessment of the quality and intensity of the inflammation is possible using non-invasive methods. Accordingly, the removal and analysis of an EMB is considered the diagnostic gold standard in international guidelines and statements. The sudden onset of atypical angina pectoris and initially exertion-dependent dyspnea, as well as arrhythmias, pericardial effusion, and progressive symptoms of heart failure, indicate an acute inflammatory process of the myocardium. In addition, nonspecific symptoms such as fatigue and reduced physical performance may also occur. Diagnostic evaluation includes an electrocardiogram (ECG), cardiac imaging, and laboratory tests. The analysis of the EMB is crucial for a definitive diagnosis and thus for the initiation of an etiology-based, specific and personalized therapy. This includes histological and immunohistochemical inflammation diagnostics as well as molecular virological diagnostics. These enable both the detection of viruses and the assessment of transcriptional virus activity. New analyses using metagenomic next generation sequencing (NGS) techniques provide insights of enormous diagnostic and therapeutic relevance. This applies both to the spectrum of detectable pathogens and to the possibility of confirming transcriptional viral activity. In addition, gene expression profiling enables the differentiation of specific forms of myocardial inflammation (e.g., giant cell myocarditis, cardiac sarcoidosis, and eosinophilic myocarditis) and reduces the influence of “sampling errors” in focal inflammatory processes. The treatment of heart failure or ventricular arrhythmias is always symptomatic according to general evidence-based guidelines. In severe cases, mechanical circulatory support or even a heart transplant may be necessary. Patients with histologically confirmed myocardial inflammation or intramyocardial viral infection can be offered specific, causal, and personalized therapy. These patients can be successfully treated with immunosuppressive or antiviral therapy, which significantly improves the prognosis of the disease. Full article
(This article belongs to the Special Issue Cardiomyopathies and Heart Failure: Charting the Future—2nd Edition)
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23 pages, 646 KB  
Review
Overview of Methods for Assessing Antimicrobial Use in Outpatient Settings in High-Income Countries: A Narrative Review
by Anita Kotwani, Mihir Chauhan, Elizabeth Roughead, Arno Muller, Martina Escher, Benedikt Huttner and Verica Ivanovska
Antibiotics 2025, 14(11), 1161; https://doi.org/10.3390/antibiotics14111161 - 16 Nov 2025
Viewed by 1527
Abstract
Background/Objectives: Over 80–90% of antibiotics are used in outpatient settings, where interactions among diverse prescribers, dispensers, and patients create complex usage patterns. The study examines how outpatient antimicrobial use is monitored in high-income countries (HICs), focusing on data sources and their relevance [...] Read more.
Background/Objectives: Over 80–90% of antibiotics are used in outpatient settings, where interactions among diverse prescribers, dispensers, and patients create complex usage patterns. The study examines how outpatient antimicrobial use is monitored in high-income countries (HICs), focusing on data sources and their relevance for stewardship and surveillance. Methods: This narrative review searched MEDLINE and Embase for English-language studies reporting outpatient antimicrobial use in HICs (from inception to 2023), supplemented by reference screening, targeted Google web searches, and expert input. Studies were categorized by data collection method, study period, and WHO Region. Key characteristics such as patient group, disease focus, country, dataset, and reported outcome measures were also extracted and tabulated. Results: We identified 287 studies, of which 79 met inclusion criteria. Most (n = 76) were conducted after 2000 and spanned all four WHO regions with HICs. Of the 73 studies using surveillance databases, six types were identified: dispensing (n = 13), health insurance (n = 24), GP prescribing (n = 17), commercial (n = 9), procurement (n = 3), and multinational networks (n = 7). Six studies used surveys: general point prevalence (n = 1), indication-specific audits (n = 3), patient exit interviews (n = 1), and community surveys (n = 1). Common outcome measures included DID, Days of Therapy, and patterns of antimicrobial use by season, age, sex, indication, and prescriber. Of the 48 studies published after 2018, nine reported using AWaRe metrics. Conclusions: Surveillance databases were the main method for tracking outpatient antimicrobial use in HICs; surveys were less common. Antibiotic use has increasingly been reported by AWaRe category, especially in prescribing and insurance studies. Further indicators and tech-driven tools are needed to support stewardship. Full article
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24 pages, 649 KB  
Review
Inventory of Survey Instruments for Monitoring Antimicrobial Use in Primary Care Settings in Low- and Middle-Income Countries: A Narrative Review
by Verica Ivanovska, Tracey-Lea Laba, Renly Lim, Anita Kotwani, Arno Muller, Martina Escher, Benedikt Huttner and Elizabeth Roughead
Antibiotics 2025, 14(11), 1159; https://doi.org/10.3390/antibiotics14111159 - 15 Nov 2025
Viewed by 1050
Abstract
Background: Over 80–90% of antimicrobial use occurs in primary health care, underscoring the need for specific data from this sector to inform practices and interventions to improve antimicrobial use. This study aimed to identify a wide range of research instruments in primary health [...] Read more.
Background: Over 80–90% of antimicrobial use occurs in primary health care, underscoring the need for specific data from this sector to inform practices and interventions to improve antimicrobial use. This study aimed to identify a wide range of research instruments in primary health care and qualitatively describe their structure, scope, and content. Methods: For the narrative review, we reviewed Medline (inception–November 2023) and agency/network websites to identify surveys on antimicrobial use prevalence in LMIC primary care. We applied no language restrictions and extracted survey instruments from publications or requested them from authors when unavailable. Results: We identified 450 studies and extracted 42 survey instruments issued between 1993 and 2023, all but one post-2000. These covered both multi-country (16.7%) and country-specific implementations across all WHO regions. Sampling units included households/consumers (24/42, 57.2%), health professionals (14/42, 33.3%), drug sellers (3/42, 7.1%), and bulk sales data (1/42, 2.4%). Surveys typically captured antimicrobial type, prescription status, and reason for use; AWaRe classification was mentioned only once. We found 13 stand-alone protocols on antimicrobial use and 4 on general medicine use. Conclusions: We identified diverse tools for measuring antimicrobial use in LMICs, though many lacked protocols or analytic support. Surveys often focused solely on antibiotics, used paper-based methods, and rarely referenced the AWaRe classification. Future efforts should broaden the scope beyond antibiotics, leverage digital data systems, include implementation protocols and analytic tools, report standardized indicators, and adopt AWaRe-related variables as a core criterion to strengthen AMU monitoring in PHC. Full article
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18 pages, 2327 KB  
Article
Assessment of 3-Cyanobenzoic Acid as a Possible Herbicide Candidate: Effects on Maize Growth and Photosynthesis
by Luiz Henryque Escher Grizza, Isabela de Carvalho Contesoto, Ana Paula da Silva Mendonça, Amanda Castro Comar, Ana Paula Boromelo, Ana Paula Ferro, Rodrigo Polimeni Constantin, Wanderley Dantas dos Santos, Rogério Marchiosi and Osvaldo Ferrarese-Filho
Plants 2025, 14(1), 1; https://doi.org/10.3390/plants14010001 - 24 Dec 2024
Cited by 1 | Viewed by 1531
Abstract
Chemical weed control is a significant agricultural concern, and reliance on a limited range of herbicide action modes has increased resistant weed species, many of which use C4 metabolism. As a result, the identification of novel herbicidal agents with low toxicity targeting C4 [...] Read more.
Chemical weed control is a significant agricultural concern, and reliance on a limited range of herbicide action modes has increased resistant weed species, many of which use C4 metabolism. As a result, the identification of novel herbicidal agents with low toxicity targeting C4 plants becomes imperative. An assessment was conducted on the impact of 3-cyanobenzoic acid on the growth and photosynthetic processes of maize (Zea mays), a representative C4 plant, cultivated hydroponically over 14 days. The results showed a significant reduction in plant growth and notable disruptions in gas exchange and chlorophyll a fluorescence due to the application of 3-cyanobenzoic acid, indicating compromised photosynthetic activity. Parameters such as the chlorophyll index, net assimilation (A), stomatal conductance (gs), intercellular CO2 concentration (Ci), maximum effective photochemical efficiency (Fv′/Fm′), photochemical quenching coefficient (qP), quantum yield of photosystem II photochemistry (ϕPSII), and electron transport rate through PSII (ETR) all decreased. The A/PAR curve revealed reductions in the maximum net assimilation rate (Amax) and apparent quantum yield (ϕ), alongside an increased light compensation point (LCP). Moreover, 3-cyanobenzoic acid significantly decreased the carboxylation rates of RuBisCo (Vcmax) and PEPCase (Vpmax), electron transport rate (J), and mesophilic conductance (gm). Overall, 3-cyanobenzoic acid induced substantial changes in plant growth, carboxylative processes, and photochemical activities. The treated plants also exhibited heightened susceptibility to intense light conditions, indicating a significant and potentially adverse impact on their physiological functions. These findings suggest that 3-cyanobenzoic acid or its analogs could be promising for future research targeting photosynthesis. Full article
(This article belongs to the Special Issue Plant Chemical Ecology)
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14 pages, 5673 KB  
Article
From Tilings of Orientable Surfaces to Topological Interlocking Assemblies
by Reymond Akpanya, Tom Goertzen and Alice C. Niemeyer
Appl. Sci. 2024, 14(16), 7276; https://doi.org/10.3390/app14167276 - 19 Aug 2024
Cited by 4 | Viewed by 1999
Abstract
A topological interlocking assembly (TIA) is an assembly of blocks together with a non-empty subset of blocks called the frame such that every non-empty set of blocks is kinematically constrained and can therefore not be removed from the assembly without causing intersections between [...] Read more.
A topological interlocking assembly (TIA) is an assembly of blocks together with a non-empty subset of blocks called the frame such that every non-empty set of blocks is kinematically constrained and can therefore not be removed from the assembly without causing intersections between blocks of the assembly. TIA provides a wide range of real-world applications, from modular construction in architectural design to potential solutions for sound insulation. Various methods to construct TIA have been proposed in the literature. In this paper, the approach of constructing TIA by applying the Escher trick to tilings of orientable surfaces is discussed. First, the strengths of this approach are highlighted for planar tilings, and the Escher trick is then exploited to construct a planar TIA that is based on the truncated square tiling, which is a semi-regular tiling of the Euclidean plane. Next, the Escher-Like approach is modified to construct TIAs that are based on arbitrary orientable surfaces. Finally, the capabilities of this modified construction method are demonstrated by constructing TIAs that are based on the unit sphere, the truncated icosahedron, and the deltoidal hexecontahedron. Full article
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17 pages, 1804 KB  
Article
S-Benzyl-L-cysteine Inhibits Growth and Photosynthesis, and Triggers Oxidative Stress in Ipomoea grandifolia
by Danielly Caroline Inacio Martarello, Luiz Henryque Escher Grizza, Marcela de Paiva Foletto-Felipe, Ana Paula da Silva Mendonça, Renato Polimeni Constantin, Ana Paula Ferro, Wanderley Dantas dos Santos, Rodrigo Polimeni Constantin, Rogerio Marchiosi and Osvaldo Ferrarese-Filho
Agronomy 2024, 14(8), 1633; https://doi.org/10.3390/agronomy14081633 - 25 Jul 2024
Cited by 5 | Viewed by 1747
Abstract
L-cysteine, a precursor of essential components for plant growth, is synthesized by the cysteine synthase complex, which includes O-acetylserine(thiol) lyase (OAS-TL) and serine acetyltransferase. In this work, we investigated how S-benzyl-L-cysteine (SBC), an OAS-TL inhibitor, affects the growth, photosynthesis, and oxidative [...] Read more.
L-cysteine, a precursor of essential components for plant growth, is synthesized by the cysteine synthase complex, which includes O-acetylserine(thiol) lyase (OAS-TL) and serine acetyltransferase. In this work, we investigated how S-benzyl-L-cysteine (SBC), an OAS-TL inhibitor, affects the growth, photosynthesis, and oxidative stress of Ipomoea grandifolia plants. SBC impaired gas exchange and chlorophyll a fluorescence, indicating damage that compromised photosynthesis and reduced plant growth. Critical parameters such as the electron transport rate (J), triose phosphate utilization (TPU), light-saturation point (LSP), maximum carboxylation rate of Rubisco (Vcmax), and light-saturated net photosynthetic rate (PNmax) decreased by 19%, 20%, 22%, 23%, and 24%, respectively. The photochemical quenching coefficient (qP), quantum yield of photosystem II photochemistry (ϕPSII), electron transport rate through PSII (ETR), and stomatal conductance (gs) decreased by 12%, 19%, 19%, and 34%, respectively. Additionally, SBC decreased the maximum fluorescence yield (Fm), variable fluorescence (Fv), and chlorophyll (SPAD index) by 14%, 15%, and 15%, respectively, indicating possible damage to the photosynthetic apparatus. SBC triggered root oxidative stress by increasing malondialdehyde, reactive oxygen species, and conjugated dienes by 30%, 55%, and 61%, respectively. We hypothesize that dysfunctions in sulfur-containing components of the photosynthetic electron transport chain, such as the cytochrome b6f complex, ferredoxin, and the iron–sulfur (Fe-S) centers are the cause of these effects, which ultimately reduce the efficiency of electron transport and hinder photosynthesis in I. grandifolia plants. In short, our findings suggest that targeting OAS-TL with inhibitors like SBC could be a promising strategy for the development of novel herbicides. Full article
(This article belongs to the Section Horticultural and Floricultural Crops)
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20 pages, 1904 KB  
Article
Hybrid Immunity Protects against Antibody Fading after SARS-CoV-2mRNA Vaccination in Kidney Transplant Recipients, Dialysis Patients, and Medical Personnel: 9 Months Data from the Prospective, Observational Dia-Vacc Study
by Julian Stumpf, Torsten Siepmann, Jörg Schwöbel, Claudia Karger, Tom H. Lindner, Robert Faulhaber-Walter, Torsten Langer, Katja Escher, Kirsten Anding-Rost, Harald Seidel, Jan Hüther, Frank Pistrosch, Heike Martin, Jens Schewe, Thomas Stehr, Frank Meistring, Alexander Paliege, Daniel Schneider, Anne Steglich, Florian Gembardt, Friederike Kessel, Hannah Kröger, Patrick Arndt, Jan Sradnick, Kerstin Frank, Anna Klimova, René Mauer, Ingo Roeder, Torsten Tonn and Christian Hugoadd Show full author list remove Hide full author list
Vaccines 2024, 12(7), 801; https://doi.org/10.3390/vaccines12070801 - 19 Jul 2024
Viewed by 1974
Abstract
(1) Background: Compared to medical personnel, SARS-CoV-2mRNA vaccination-related positive immunity rates, levels, and preservation over time in dialysis and kidney transplant patients are reduced. We hypothesized that COVID-19 pre-exposure influences both vaccination-dependent immunity development and preservation in a group-dependent manner. (2) Methods: We [...] Read more.
(1) Background: Compared to medical personnel, SARS-CoV-2mRNA vaccination-related positive immunity rates, levels, and preservation over time in dialysis and kidney transplant patients are reduced. We hypothesized that COVID-19 pre-exposure influences both vaccination-dependent immunity development and preservation in a group-dependent manner. (2) Methods: We evaluated 2- and 9-month follow-up data in our observational Dia-Vacc study, exploring specific cellular (interferon-γ release assay = IGRA) and/or humoral immune responses (IgA/IgG/RBD antibodies) after two SARS-CoV-2mRNA vaccinations in 2630 participants, including medical personnel (301-MP), dialysis patients (1841-DP), and kidney transplant recipients (488-KTR). Study participants were also separated into COVID-19 pre-exposure (hybrid immunity) positive (n = 407) versus negative (n = 2223) groups. (3) Results: COVID-19 pre-exposure improved most vaccination-related positive immunity rates in KTR and DP at 2 months but not in MP, where rates reached almost 100% independent of hybrid immunity. In the COVID-19-negative study, patients’ immunity faded between two and nine months, evaluated via the percentage of patients with an RBD antibody decrease >50%, and was markedly group- (MP-17.8%, DP-52.2%, and KTR-38.6%) and vaccine type-dependent. In contrast, in all patient groups with COVID-19, pre-exposure RBD antibody decreases of >50% were similarly rare (MP-4.3%, DP-7.2%, and KTR-0%) but still vaccine type-dependent, with numerically reduced numbers in mRNA-1273- versus BNT162b2mRNA-treated patients. Multivariable regression analysis of RBD antibody changes between two and nine months by interval scale categorization confirmed COVID-19 pre-exposure as a factor in inhibiting strong RBD Ab fading. COVID-19 pre-exposure in MP and DP also numerically reduced T-cell immunity fading. In DP, symptomatic (versus asymptomatic) COVID-19 pre-exposure was identified as a factor in reducing strong RBD Ab fading after vaccination. (4) Conclusions: After mRNA vaccination, immunity positivity rates in DP and KTR but not MP, as well as immunity preservation in MP/DP/KTR, are markedly improved via prior COVID-19 infection. In DP, prior symptomatic compared to asymptomatic COVID-19 disease was particularly effective in blocking immunity fading after mRNA vaccination. Full article
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12 pages, 2329 KB  
Article
Evaluating the Bias of Two Point-of-Care Glucometers for Calves and Ewes: Awareness for Ruminant Practitioners
by Ryan Flynn, Haley Cremerius, Lisa Ebner, Pierre-Yves Mulon, Jessica Garcia, Kailee Bennett, Jessica Gerbert, Lainey Harvill, Olivia Escher, Channing Cantrell, Windy Soto-Gonzalez, Rebecca R. Rahn, Jeff D. Olivarez, Lingnan Yuan, Jonathan P. Mochel, Amanda J. Kreuder and Joe Smith
Ruminants 2024, 4(3), 304-315; https://doi.org/10.3390/ruminants4030022 - 2 Jul 2024
Viewed by 2028
Abstract
(1) Background: Multiple point-of-care (POC) glucometers are in use in veterinary medicine, but few are compared to each other. This leaves the potential for clinicians to be unaware of the effect of bias when comparing results from different POC glucometers. (2) Methods: Samples [...] Read more.
(1) Background: Multiple point-of-care (POC) glucometers are in use in veterinary medicine, but few are compared to each other. This leaves the potential for clinicians to be unaware of the effect of bias when comparing results from different POC glucometers. (2) Methods: Samples from healthy calves and ewes were simultaneously compared with two POC veterinary glucometers, the Precision Xtra and the AlphaTrak2, under both the “canine” and “feline” settings. The results of each sample were statistically analyzed with linear regression and Bland–Altman analysis. (3) Results: 170 samples from healthy calves and 108 samples from healthy ewes were available for comparison. Calves: The AT2 consistently overestimated blood glucose concentrations when compared to the PX device with the calves. Correlationt with the PX was r = 0.8496 (canine setting) and r = 0.8861 (feline setting). Both the canine and feline settings demonstrated a consistent bias (41.11 and 33.64 mg/dL, respectively). Ewes: The AT2 consistently overestimated blood glucose concentrations when compared to the PX device with the ewes. Correlation with the PX was R = 0.4710 (canine setting) and R = 0.7269 (feline setting). Both the canine and feline settings demonstrated a consistent bias (21.23 and 14.54 mg/dL, respectively). (4) Clinicians should be aware of the potential for consistent bias when evaluating calf and sheep blood glucose concentrations as the AT2 device, at both settings, overestimated blood glucose compared to the previously validated PX. This reliability appears to change when the values are farther from the normal ranges, which should be considered when making clinical decisions based on data from these devices. Full article
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7 pages, 1639 KB  
Communication
Epstein-Barr Virus Lytic Transcripts Correlate with the Degree of Myocardial Inflammation in Heart Failure Patients
by Christian Baumeier, Dominik Harms, Britta Altmann, Ganna Aleshcheva, Gordon Wiegleb, Thomas Bock, Felicitas Escher and Heinz-Peter Schultheiss
Int. J. Mol. Sci. 2024, 25(11), 5845; https://doi.org/10.3390/ijms25115845 - 28 May 2024
Cited by 4 | Viewed by 2128
Abstract
The Epstein-Barr virus (EBV) is frequently found in endomyocardial biopsies (EMBs) from patients with heart failure, but the detection of EBV-specific DNA has not been associated with progressive hemodynamic deterioration. In this paper, we investigate the use of targeted next-generation sequencing (NGS) to [...] Read more.
The Epstein-Barr virus (EBV) is frequently found in endomyocardial biopsies (EMBs) from patients with heart failure, but the detection of EBV-specific DNA has not been associated with progressive hemodynamic deterioration. In this paper, we investigate the use of targeted next-generation sequencing (NGS) to detect EBV transcripts and their correlation with myocardial inflammation in EBV-positive patients with heart failure with reduced ejection fraction (HFrEF). Forty-four HFrEF patients with positive EBV DNA detection and varying degrees of myocardial inflammation were selected. EBV-specific transcripts from EMBs were enriched using a custom hybridization capture-based workflow and, subsequently, sequenced by NGS. The short-read sequencing revealed the presence of EBV-specific transcripts in 17 patients, of which 11 had only latent EBV genes and 6 presented with lytic transcription. The immunohistochemical staining for CD3+ T lymphocytes showed a significant increase in the degree of myocardial inflammation in the presence of EBV lytic transcripts, suggesting a possible influence on the clinical course. These results imply the important role of EBV lytic transcripts in the pathogenesis of inflammatory heart disease and emphasize the applicability of targeted NGS in EMB diagnostics as a basis for specific treatment. Full article
(This article belongs to the Special Issue Heart Failure: From Molecular Basis to Therapeutic Strategies)
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30 pages, 541 KB  
Article
How to Design Human-Vehicle Cooperation for Automated Driving: A Review of Use Cases, Concepts, and Interfaces
by Jakob Peintner, Bengt Escher, Henrik Detjen, Carina Manger and Andreas Riener
Multimodal Technol. Interact. 2024, 8(3), 16; https://doi.org/10.3390/mti8030016 - 26 Feb 2024
Cited by 10 | Viewed by 5464
Abstract
Currently, a significant gap exists between academic and industrial research in automated driving development. Despite this, there is common sense that cooperative control approaches in automated vehicles will surpass the previously favored takeover paradigm in most driving situations due to enhanced driving performance [...] Read more.
Currently, a significant gap exists between academic and industrial research in automated driving development. Despite this, there is common sense that cooperative control approaches in automated vehicles will surpass the previously favored takeover paradigm in most driving situations due to enhanced driving performance and user experience. Yet, the application of these concepts in real driving situations remains unclear, and a holistic approach to driving cooperation is missing. Existing research has primarily focused on testing specific interaction scenarios and implementations. To address this gap and offer a contemporary perspective on designing human–vehicle cooperation in automated driving, we have developed a three-part taxonomy with the help of an extensive literature review. The taxonomy broadens the notion of driving cooperation towards a holistic and application-oriented view by encompassing (1) the “Cooperation Use Case”, (2) the “Cooperation Frame”, and (3) the “Human–Machine Interface”. We validate the taxonomy by categorizing related literature and providing a detailed analysis of an exemplar paper. The proposed taxonomy offers designers and researchers a concise overview of the current state of driver cooperation and insights for future work. Further, the taxonomy can guide automotive HMI designers in ideation, communication, comparison, and reflection of cooperative driving interfaces. Full article
(This article belongs to the Special Issue Cooperative Intelligence in Automated Driving-2nd Edition)
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14 pages, 1409 KB  
Article
Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome
by Alessandra Ferrario, Nijas Aliu, Claudine Rieubland, Sébastian Vuilleumier, Hilary M. Grabe and Pascal Escher
Genes 2023, 14(12), 2222; https://doi.org/10.3390/genes14122222 - 16 Dec 2023
Cited by 1 | Viewed by 2706
Abstract
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the [...] Read more.
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability. The heterozygous 5 Mb-microdeletion was characterized by an array CGH (Comparative Genomic Hybridization) analysis. In the past two decades, nine patients with microdeletions in this region have been identified by array CGH analysis and were reported in the literature. All these patients show psychomotor development disorder and outer and/or inner ear anomalies. In addition, most of the patients have mild to severe intellectual disability and show facial malformations. We reviewed the literature on PubMed and OMIM using the gene/loci names as search terms in an attempt to identify correlations between genes located within the heterozygous microdeletion and the clinical phenotype of the patient, in order to define a recognizable phenotype for the 2p11.2p12 microdeletion syndrome. We discuss additional symptoms that are not systematically present in all patients and contribute to a heterogeneous clinical presentation of this microdeletion syndrome. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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6 pages, 639 KB  
Case Report
Pericardial Adhesion and Chronic Non-Specific Neck Pain following Thoracentesis: An Osteopathic Approach
by Bruno Bordoni and Allan Escher
Clin. Pract. 2023, 13(6), 1313-1318; https://doi.org/10.3390/clinpract13060117 - 25 Oct 2023
Cited by 3 | Viewed by 4368
Abstract
Cardiovascular diseases (CVDs) are the leading cause of death globally. Morbidity and disability related to non-fatal events are increasing exponentially. There are several symptoms that may arise after invasive therapeutic approaches such as coronary artery bypass graft (CABG), including chronic pain in anatomical [...] Read more.
Cardiovascular diseases (CVDs) are the leading cause of death globally. Morbidity and disability related to non-fatal events are increasing exponentially. There are several symptoms that may arise after invasive therapeutic approaches such as coronary artery bypass graft (CABG), including chronic pain in anatomical areas connected to the mediastinum; these pains can be found not only initially after surgery but also years later. We present a case where non-specific neck pain (NNP), in a patient undergoing CABG five years earlier, was resolved with an osteopathic technique, working the pericardial area. To the knowledge of the authors, it is the first article illustrating an osteopathic approach with resolution of NNP, with a manual technique used on the pericardial area. Full article
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32 pages, 1934 KB  
Review
Advancing Precision Medicine in Myocarditis: Current Status and Future Perspectives in Endomyocardial Biopsy-Based Diagnostics and Therapeutic Approaches
by Christian Baumeier, Dominik Harms, Ganna Aleshcheva, Ulrich Gross, Felicitas Escher and Heinz-Peter Schultheiss
J. Clin. Med. 2023, 12(15), 5050; https://doi.org/10.3390/jcm12155050 - 31 Jul 2023
Cited by 14 | Viewed by 5698
Abstract
The diagnosis and specific and causal treatment of myocarditis and inflammatory cardiomyopathy remain a major clinical challenge. Despite the rapid development of new imaging techniques, endomyocardial biopsies remain the gold standard for accurate diagnosis of inflammatory myocardial disease. With the introduction and continued [...] Read more.
The diagnosis and specific and causal treatment of myocarditis and inflammatory cardiomyopathy remain a major clinical challenge. Despite the rapid development of new imaging techniques, endomyocardial biopsies remain the gold standard for accurate diagnosis of inflammatory myocardial disease. With the introduction and continued development of immunohistochemical inflammation diagnostics in combination with viral nucleic acid testing, myocarditis diagnostics have improved significantly since their introduction. Together with new technologies such as miRNA and gene expression profiling, quantification of specific immune cell markers, and determination of viral activity, diagnostic accuracy and patient prognosis will continue to improve in the future. In this review, we summarize the current knowledge on the pathogenesis and diagnosis of myocarditis and inflammatory cardiomyopathies and highlight future perspectives for more in-depth and specialized biopsy diagnostics and precision, personalized medicine approaches. Full article
(This article belongs to the Special Issue Myocarditis in Clinical Practice—Part II)
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