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  • 1
    Online Resource
    Online Resource
    Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern
    MDPI AG ; 2022
    In:  International Journal of Molecular Sciences Vol. 23, No. 12 ( 2022-06-15), p. 6685-
    Details
    In: International Journal of Molecular Sciences, MDPI AG, Vol. 23, No. 12 ( 2022-06-15), p. 6685-
    Abstract: Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in FKTN affect the glycosylation of α-dystroglycan, leading to a dystroglycanopathy. Dystroglycanopathies are a group of syndromes with a broad clinical spectrum including dilated cardiomyopathy and muscular dystrophy. In this study, we reported the case of a patient with muscular dystrophy, early onset dilated cardiomyopathy, and elevated creatine kinase levels who was a carrier of the compound heterozygous variants p.Ser299Arg and p.Asn442Ser in FKTN. Our work showed that compound heterozygous mutations in FKTN lead to a loss of fully glycosylated α-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age.
    Type of Medium: Online Resource
    ISSN: 1422-0067
    URL: Article
    DOI: 10.3390/ijms23126685
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2019364-6
    SSG: 12
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  • 2
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    Preoperative Perforator Mapping in DIEP Flaps for Breast Reconstruction. The Impact of New Contrast-Enhanced Ultrasound Techniques
    MDPI AG ; 2022
    In:  Journal of Personalized Medicine Vol. 13, No. 1 ( 2022-12-28), p. 64-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 13, No. 1 ( 2022-12-28), p. 64-
    Abstract: Deep inferior epigastric artery flaps (DIEP) represent the gold standard of autologous breast reconstruction. Due to significant variations in vascular anatomy, preoperative perforator mapping (PM) is mandatory in order to ensure the presence of a sufficient perforator within the flap. In this regard, CT angiography (CTA) is currently the method of choice. Therefore, we investigated the value of contrast-enhanced ultrasound (CEUS) techniques for preoperative PM in comparison to CTA. Patients underwent PM, utilizing both CTA and CEUS techniques. Documentation included the course of the vascular pedicle through the rectus muscle (M), fascial penetration (F), the subcutaneous plexus (P) and the skin point (SP) on either side of the abdomen. Thus, contrast-enhanced B-Flow (BCEUS), B-Flow ultrasound (BUS), CEUS, color Doppler ultrasound (CDUS) and CTA were evaluated in terms of the diagnostic consistency and effectiveness of PM. Precision (∆L) was then calculated in relation to the actual intraoperative location. Statistical analysis included Kruskall–Wallis, Levene and Bonferroni tests, as well as Spearman correlations. A total of 39 DIEP flaps were analyzed. Only CTA (∆L = 2.85 mm) and BCEUS (∆L = 4.57 mm) enabled complete PM, also including P and SP, whereas CDUS, CEUS and BUS enabled clear PM throughout M and F only. Regarding the number of detected perforators, PM techniques are ranked from high to low as follows: CTA, BCEUS, BUS, CEUS and CDUS. CTA and BCEUS showed sufficient diagnostic consistency for SP, P and F, while CDUS and CTA had a superior performance for M. BCEUS offers precise image-controlled surface tags and dynamic information for PM without imposing radiation and may, therefore, be considered a feasible add-on or alternative to CTA. However, BCEUS requires an experienced examiner and is more time-consuming.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm13010064
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2662248-8
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  • 3
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    Emiliania huxleyi—Bacteria Interactions under Increasing CO2 Concentrations
    MDPI AG ; 2022
    In:  Microorganisms Vol. 10, No. 12 ( 2022-12-13), p. 2461-
    Details
    In: Microorganisms, MDPI AG, Vol. 10, No. 12 ( 2022-12-13), p. 2461-
    Abstract: The interactions established between marine microbes, namely phytoplankton–bacteria, are key to the balance of organic matter export to depth and recycling in the surface ocean. Still, their role in the response of phytoplankton to rising CO2 concentrations is poorly understood. Here, we show that the response of the cosmopolitan Emiliania huxleyi (E. huxleyi) to increasing CO2 is affected by the coexistence with bacteria. Specifically, decreased growth rate of E. huxleyi at enhanced CO2 concentrations was amplified in the bloom phase (potentially also related to nutrient concentrations) and with the coexistence with Idiomarina abyssalis (I. abyssalis) and Brachybacterium sp. In addition, enhanced CO2 concentrations also affected E. huxleyi’s cellular content estimates, increasing organic and decreasing inorganic carbon, in the presence of I. abyssalis, but not Brachybacterium sp. At the same time, the bacterial isolates only survived in coexistence with E. huxleyi, but exclusively I. abyssalis at present CO2 concentrations. Bacterial species or group-specific responses to the projected CO2 rise, together with the concomitant effect on E. huxleyi, might impact the balance between the microbial loop and the export of organic matter, with consequences for atmospheric carbon dioxide.
    Type of Medium: Online Resource
    ISSN: 2076-2607
    URL: Article
    DOI: 10.3390/microorganisms10122461
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2720891-6
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  • 4
    Online Resource
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    Flux States of Active Galactic Nuclei
    MDPI AG ; 2019
    In:  Galaxies Vol. 7, No. 2 ( 2019-05-21), p. 57-
    Details
    In: Galaxies, MDPI AG, Vol. 7, No. 2 ( 2019-05-21), p. 57-
    Abstract: Blazars are known to show variability on time scales from minutes to years covering a wide range of flux states. Studying the flux distribution of a source allows for various insights. The shape of the flux distribution can provide information on the nature of the underlying variability processes. The level of a possible quiescent state can be derived from the main part of the distribution that can be described by a Gaussian distribution. Dividing the flux states into quiescent and active, the duty cycle of a source can be calculated. Finally, this allows alerting the multi-wavelength and multi-messenger community in case a source is in an active state. To get consistent and conclusive results from flux distributions, unbiased long-term observations are crucial. Only like this is a complete picture of the variability and flux states, e.g., an all-time quiescent state, possible. In seven years of monitoring of bright TeV blazars, the first G-APD Cherenkov telescope (FACT) has collected a total of more than 11,700 hours of physics data with 1500 hours to 3000 hours per source for Mrk 421, Mrk 501, 1ES 1959+650, and 1ES 2344+51.
    Type of Medium: Online Resource
    ISSN: 2075-4434
    URL: Article
    DOI: 10.3390/galaxies7020057
    Language: English
    Publisher: MDPI AG
    Publication Date: 2019
    detail.hit.zdb_id: 2691049-4
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  • 5
    Online Resource
    Online Resource
    A More Realistic Heat Pump Control Approach by Application of an Integrated Two-Part Control
    MDPI AG ; 2020
    In:  Energies Vol. 13, No. 11 ( 2020-06-01), p. 2752-
    Details
    In: Energies, MDPI AG, Vol. 13, No. 11 ( 2020-06-01), p. 2752-
    Abstract: Heat pumps are a vital element for reaching the greenhouse gas (GHG) reduction targets in the heating sector, but their system integration requires smart control approaches. In this paper, we first offer a comprehensive literature review and definition of the term control for the described context. Additionally, we present a control approach, which consists of an optimal scheduling module coupled with a detailed energy system simulation module. The aim of this integrated two-part control approach is to improve the performance of an energy system equipped with a heat pump, while recognizing the technical boundaries of the energy system in full detail. By applying this control to a typical family household situation, we illustrate that this integrated approach results in a more realistic heat pump operation and thus a more realistic assessment of the control performance, while still achieving lower operational costs.
    Type of Medium: Online Resource
    ISSN: 1996-1073
    URL: Article
    DOI: 10.3390/en13112752
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2437446-5
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  • 6
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    Online Resource
    Effects of a Primary Care-Based Intervention on the Identification and Management of Patients with Coronary Heart Disease and Mental or Cognitive Comorbidity—A Study Protocol
    MDPI AG ; 2023
    In:  International Journal of Environmental Research and Public Health Vol. 20, No. 10 ( 2023-05-13), p. 5814-
    Details
    In: International Journal of Environmental Research and Public Health, MDPI AG, Vol. 20, No. 10 ( 2023-05-13), p. 5814-
    Abstract: Mental and cognitive disorders (MCD) negatively affect the incidence and prognosis of coronary heart disease (CHD). Medical guidelines recommend the appropriate management of comorbid MCD in patients with CHD, yet there is evidence that the implementation in primary care is not always adequate. We present the protocol for a pilot study that aims to develop a minimally invasive intervention and evaluate its feasibility in the primary care setting to improve the identification and management of comorbid MCD in patients with CHD. The study consists of two consecutive parts and will be carried out in Cologne, Germany. Part 1 comprises the development and tailoring of the intervention, which is guided by qualitative interviews with primary care physicians (PCPs, n = 10), patients with CHD and MCD and patient representatives (n = 10). Part II focuses on the implementation and evaluation of the intervention in n = 10 PCP offices. Changes in PCP behaviour will be analysed by comparing routine data in the practice management system six months before and six months after study participation. In addition, we will explore the influence of organisational characteristics and perform a socio-economic impact assessment. The outcomes of this mixed-method study will inform the feasibility of a PCP-based intervention to improve quality of care in patients with CHD and comorbid MCD.
    Type of Medium: Online Resource
    ISSN: 1660-4601
    URL: Article
    DOI: 10.3390/ijerph20105814
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2175195-X
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  • 7
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    Discussing the Actual Impact of Optimizing Cost and GHG Emission Minimal Charging of Electric Vehicles in Distributed Energy Systems
    MDPI AG ; 2021
    In:  Energies Vol. 14, No. 3 ( 2021-02-02), p. 786-
    Details
    In: Energies, MDPI AG, Vol. 14, No. 3 ( 2021-02-02), p. 786-
    Abstract: Electric vehicles represent a promising opportunity to achieve greenhouse gas (GHG) reduction targets in the transport sector. Integrating them comprehensively into the energy system requires smart control strategies for the charging processes. In this paper we concentrate on charging processes at the end users home. From the perspective of an end user, optimizing of charging electric vehicles might strive for different targets: cost minimization of power purchase for the individual household or—as proposed more often recently—minimization of GHG emissions. These targets are sometimes competing and cannot generally be achieved at the same time as the results show. In this paper, we present approaches of considering these targets by controlling charging processes at the end users home. We investigate the influence of differently designed optimizing charging strategies for this purpose, considering the electrical purchase cost as well as the GHG emissions and compare them with the conventional uncontrolled charging strategy using the example of a representative household of a single family. Therefore, we assumed a detailed trip profile of such a household equipped with a local generation and storage system at the same time. We implemented the mentioned strategies and compare the results concerning effects on annual GHG emissions and annual energy purchase costs of the household. Regarding GHG emissions we apply a recently proposed approach by other authors based on hourly emission factors. We discuss the effectivity of this approach and derive, that there is hardly no real impact on actual GHG emissions in the overall system. As incorporating this GHG target into the objective function increases cost, we appraise such theoretical GHG target therefore counterproductive. In conclusion, we would thus like to appeal for dynamic electricity prices for decentralised energy systems, leading at the same time to cost efficient charging of electric vehicles unfolding clear incentives for end users, which is GHG friendly at the end.
    Type of Medium: Online Resource
    ISSN: 1996-1073
    URL: Article
    DOI: 10.3390/en14030786
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2437446-5
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  • 8
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    Risk Factors for Hepatitis E Virus Infection and Eating Habits in Kidney Transplant Recipients
    MDPI AG ; 2023
    In:  Pathogens Vol. 12, No. 6 ( 2023-06-20), p. 850-
    Details
    In: Pathogens, MDPI AG, Vol. 12, No. 6 ( 2023-06-20), p. 850-
    Abstract: There is a significant risk for ongoing and treatment-resistant courses of hepatitis E virus (HEV) infection in patients after solid organ transplantation. The aim of this study was to identify risk factors for the development of hepatitis E, including the dietary habits of patients. We conducted a retrospective single-center study with 59 adult kidney and combined kidney transplant recipients who were diagnosed with HEV infection between 2013 and 2020. The outcomes of HEV infections were analyzed during a median follow-up of 4.3 years. Patients were compared with a control cohort of 251 transplant patients with elevated liver enzymes but without evidence of an HEV infection. Patients’ alimentary exposures during the time before disease onset or diagnosis were assessed. Previous intense immunosuppression, especially treatment with high-dose steroids and rituximab, was a significant risk factor to acquire hepatitis E after solid organ transplantation. Only 11 out of 59 (18.6%) patients reached remission without further ribavirin (RBV) treatment. A total of 48 patients were treated with RBV, of which 19 patients (39.6%) had either viral rebounds after the end of treatment or did not reach viral clearance at all. Higher age ( 〉 60 years) and a BMI ≤ 20 kg/m2 were risk factors for RBV treatment failure. Deterioration in kidney function with a drop in eGFR (p = 0.046) and a rise in proteinuria was more common in patients with persistent hepatitis E viremia. HEV infection was associated with the consumption of undercooked pork or pork products prior to infection. Patients also reported processing raw meat with bare hands at home more frequently than the controls. Overall, we showed that the intensity of immunosuppression, higher age, a low BMI and the consumption of undercooked pork meat correlated with the development of hepatitis E.
    Type of Medium: Online Resource
    ISSN: 2076-0817
    URL: Article
    DOI: 10.3390/pathogens12060850
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2695572-6
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  • 9
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    Evolution of System Embedded Optical Interconnect in Sub-Top-of-Rack Data Center Systems
    MDPI AG ; 2022
    In:  Applied Sciences Vol. 12, No. 3 ( 2022-01-31), p. 1565-
    Details
    In: Applied Sciences, MDPI AG, Vol. 12, No. 3 ( 2022-01-31), p. 1565-
    Abstract: In this paper we review key technological milestones in system embedded optical interconnects in data centers that have been achieved between 2014 and 2020 on major European Union research and development projects. This includes the development of proprietary optically enabled data storage and switch systems and optically enabled data storage and compute subsystems. We report on four optically enabled data center system demonstrators: LightningValley, ThunderValley2, Pegasus and Aurora, which include advanced optical circuits based on polymer waveguides and fibers and proprietary electro-optical connectors. We also report on optically enabled subsystems including Ethernet-connected hard disk drives and microservers. Both are designed in the same pluggable carrier form factor and with embedded optical transceiver and connector interfaces, thus allowing, for the first time, both compute and storage nodes to be optically interchangeable and directly interconnectable over long distances. Finally, we present the Nexus platform, which allows different optically enabled data center test systems and subsystems to be interconnected and comparatively characterized within a data center test environment.
    Type of Medium: Online Resource
    ISSN: 2076-3417
    URL: Article
    DOI: 10.3390/app12031565
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2704225-X
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  • 10
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    From Gut to Blood: Spatial and Temporal Pathobiome Dynamics during Acute Abdominal Murine Sepsis
    MDPI AG ; 2023
    In:  Microorganisms Vol. 11, No. 3 ( 2023-02-28), p. 627-
    Details
    In: Microorganisms, MDPI AG, Vol. 11, No. 3 ( 2023-02-28), p. 627-
    Abstract: Abdominal sepsis triggers the transition of microorganisms from the gut to the peritoneum and bloodstream. Unfortunately, there is a limitation of methods and biomarkers to reliably study the emergence of pathobiomes and to monitor their respective dynamics. Three-month-old CD-1 female mice underwent cecal ligation and puncture (CLP) to induce abdominal sepsis. Serial and terminal endpoint specimens were collected for fecal, peritoneal lavage, and blood samples within 72 h. Microbial species compositions were determined by NGS of (cell-free) DNA and confirmed by microbiological cultivation. As a result, CLP induced rapid and early changes of gut microbial communities, with a transition of pathogenic species into the peritoneum and blood detected at 24 h post-CLP. NGS was able to identify pathogenic species in a time course-dependent manner in individual mice using cfDNA from as few as 30 microliters of blood. Absolute levels of cfDNA from pathogens changed rapidly during acute sepsis, demonstrating its short half-life. Pathogenic species and genera in CLP mice significantly overlapped with pathobiomes from septic patients. The study demonstrated that pathobiomes serve as reservoirs following CLP for the transition of pathogens into the bloodstream. Due to its short half-life, cfDNA can serve as a precise biomarker for pathogen identification in blood.
    Type of Medium: Online Resource
    ISSN: 2076-2607
    URL: Article
    DOI: 10.3390/microorganisms11030627
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2720891-6
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