Search Results (19)

Background: Focal segmental glomerulosclerosis (FSGS) is a leading cause of renal disease presenting with steroid-resistant nephrotic syndrome (SNRS) and variable stages of chronic kidney disease (CKD). Monogenic etiologies for FSGS are increasingly recognized, particularly in pediatric and familial cases. Missense variants in the MAF BZIP Transcription Factor B (MAFB) gene cause a dominantly inherited condition with variable phenotype, ranging from isolated ocular or renal manifestations to syndromic FSGS. Methods: Detailed clinical and genetic investigations were conducted in an extended family presenting with a spectrum of renal and extra-renal manifestations. Results: Using Exome Sequencing (ES), a heterozygous variant, c.797T>C; p.(Leu266Pro) in the MAFB gene was identified in multiple affected family members. Variant segregation confirmed its presence in additional family members. The proband exhibited CKD accompanied by congenital auricular anomalies, hearing loss, and neurodevelopmental delay. An affected sibling presented with nephrotic-range proteinuria, Duane retraction syndrome (DRS) and neurodevelopmental involvement, while another family member had an isolated renal phenotype. Several of these features have not been previously associated with MAFB. Tools for structural modeling and stability predictions supported the functional impact of this variant. Conclusions: Our findings expand the phenotypic spectrum of MAFB-associated disease and further emphasize its variability. Full article

This paper presents the results of a comprehensive study of a cuboid diamond of variety III according to the mineralogical classification of Y.L. Orlov, which was first discovered in Carnian (Upper Triassic) deposits of the Bulkur anticline in the northeastern Siberian platform. It is established that the crystal has a cubic shape with signs of intense dissolution and is characterized by a zonal–sectorial fibrous internal structure. The central area of the diamond is saturated with microinclusions. The studied cuboid diamond belongs to the IaAB type according to IR spectroscopy data. An accumulation of minerals, which is represented by chamosite (Fe-rich chlorite), quartz, and pyrite, as well as rare native metals (Fe, Cu, and Ag) and intermetallides (chromferide), is present on the diamond surface. The chemical composition and morphology of chamosite indicate its low-temperature hydrothermal–diagenetic origin (50–150 °C, pressure < 1 kbar) in the marine or lagoon sedimentary environment of the rift basin of the Siberian platform during the Triassic. The discovery of a diamond of variety III, characteristic of large industrial kimberlite pipes (Mir, Udachnaya, and Aikhal), in placers of the Leno-Anabar diamond-bearing subprovince indicates a possible unknown primary kimberlite source. Full article

VDI/VDE 2206 introduces the “V-Model”, a standard in the field of automotive development that uses systems engineering to derive requirements for (sub-)systems and components based on vehicle characteristics. These characteristics, which are directly experienced by drivers, are crucial in the concept phase, where virtual methods are increasingly applied. Regarding the battery electric vehicle’s energy storage, commonly a lithium-ion battery, vehicle metrics, especially for charging, range, and longitudinal dynamics, are of particular relevance. This publication will demonstrate a method to derive the requirements for the battery system based on those metrics. The core of the method is a static battery model, which considers the needed effects and dependencies in order to adequately represent the defined vehicle metrics, e.g., the battery’s open-circuit voltage and internal resistance. This paper also discusses the necessity of the relevant effects and dependencies and also why some of them can be ignored at this particular vehicle development stage. The result is a consistent method for requirement definition, from vehicle level to battery system level, applicable in the concept phase of the vehicle development process. Full article

Barriers to cancer care, including transportation and Internet insecurity, are of special concern in low-resource communities. A patient-centered, telehealth-based, barrier-focused lay navigator program may mitigate such barriers. We share insights from a quality improvement project wherein we developed and delivered a lay navigator program in a low-resource community in the Mojave Desert. We identified 68 patients scheduled for lung cancer detection/management at our institution, 55 of whom completed a barrier assessment, enrolled in the program, and could be evaluated. Participants were predominantly older (76%), White (84%), had a cancer diagnosis at enrollment (69%), and lived in socioeconomically disadvantaged neighborhoods. Thirty-three (60%) patients had ≥1 barrier, the most common being transportation (31%), Internet (24%), and financial (24%) concerns. These barriers were more frequent among patients with a lung cancer diagnosis at enrollment. Crisis-focused and after-hours encounters were more frequently initiated by older and advanced cancer patients. Transportation and Internet concerns were significantly associated with missed appointment rates. While the scope of our findings is limited, the delivery of a telehealth-based, barrier-focused lay lung navigator program in this low-resource setting was feasible. Neighborhood context and barrier resource planning are important for the implementation of similar programs within our institution’s clinical practice network. Full article

Enhanced colony nutrition can support brood development, resulting in better physiological conditions and increased resilience in adult honey bees, particularly under stress. This study investigated the effects of colony nutrition and adult dietary supplementation with green propolis on bee health under fungicide exposure. Colonies were managed under food restriction or nutritional supplementation for 22 weeks. Newly emerged bees from each colony were then caged and fed protein diets consisting of honey-pollen patties contaminated or not with fungicide, and sucrose sugar syrup with or without aqueous green propolis extract. Bees from supplemented colonies showed greater body weight, higher hemolymph protein levels, and higher consumption of protein food after seven days in cages. Fungicide exposure reduced hemolymph protein levels, altered the expression of detoxification and immune-related genes, and significantly decreased bee survival. Interestingly, propolis supplementation alone changed gene expression patterns and slightly reduced longevity compared to bees not exposed to propolis or fungicide. However, under fungicide stress, bees that ingested propolis survived longer, indicating a protective effect. While colony nutritional supplementation clearly promotes honey bee resilience against fungicide exposure, feeding propolis also showed promising effects, though further studies are needed to determine an optimal dietary concentration. Full article

Background: Lamb health is crucial for producers; however, the percentage of lambs that die before weaning is still 15–20%. One factor that can contribute to lamb deaths is congenital diseases. A novel semi-lethal disease has been identified in newborn Polypay lambs and termed dozer lamb syndrome. This study aims to determine if there is a genetic predisposition to dozer lamb syndrome. These lambs are weak and unable to lift their heads, suckle, and swallow, resulting in nasal reflux. Methods: Genetic analyses, including a genome-wide association, runs of homozygosity, and fine mapping to determine haploblock within regions of interest, were utilized in determining genetic predispositions to dozer lamb syndrome. Results: The genome-wide association study identified a region of chromosome 15 with three significant SNPs (p-values of 6.81 × 10⁻⁶, 5.71 × 10⁻⁶, and 8.52 × 10⁻⁶). Genetic analysis identified a run of homozygosity on the same region of chromosome 15 with an odds ratio of 236.7. Fine mapping of this region identified three haploblocks associated with the dozer lamb syndrome (p-value = 2.41 × 10⁻⁵). Conclusions: The most significant and promising gene in this region is CELF1, which is known to play an important role in muscle development. Abnormal CELF1 abundance and cellular location are reported to result in abnormal muscle development. Identification of genetic aberrations associated with dozer lamb syndrome provides a tool for decreasing or eliminating the genotype and, thus, the associated phenotype(s) from Polypay sheep. Full article

Here we describe the synthesis and evaluation of a molecular corrosion sensor that can be applied in situ in aerospace coatings, then used to detect corrosion after the coating has been applied. A pH-sensitive molecule, 4-mercaptopyridin (4-MP), is attached to a gold nanoparticle to allow surface-enhanced Raman-scattering (SERS) for signal amplification. These SERS nanoparticles, when combined with an appropriate micron-sized carrier system, are incorporated directly into an MIL-SPEC coating and used to monitor the process onset and progression of corrosion using pH changes occurring at the metal–coating interface. The sensor can track corrosion spatially as it proceeds underneath the coating, due to the mobility of the proton front generated during corrosion and the homogeneous distribution of the sensor in the coating layer. To our knowledge, this report is the first time a 4-MP functionalized gold nanoparticle has been used, along with SERS spectroscopy, to monitor corrosion in an applied commercial coating in a fast, non-contact way. Full article

The aim of this study was to evaluate whether alterations in food availability compromise the metabolic homeostasis of honey bees exposed to three fungicides alone or together. Ten honey bee colonies were used, with half receiving carbohydrate-protein supplementation for 15 weeks while another five colonies had their protein supply reduced with pollen traps. Subsequently, forager bees were collected and exposed by contact to 1 or 7 µg of bixafen, prothioconazole, or trifloxystrobin, either individually or in combination. After 48 h, bee abdomens without the intestine were used for the analysis of expression of antioxidant genes (SOD-1, CAT, and GPX-1), detoxification genes (GST-1 and CYP306A1), the storage protein gene vitellogenin, and immune system antimicrobial peptide genes (defensin-1, abaecin, hymenoptaecin, and apidaecin), through real-time PCR. All fungicide treatments induced changes in gene expression, with bixafen showing the most prominent upregulation. Exposure to 1 µg of each of the three pesticides resulted in upregulation of genes associated with detoxification and nutrition processes, and downregulation of immune system genes. When the three pesticides were combined at a dose of 7 µg each, there was a pronounced downregulation of all genes. Food availability in the colonies affected the impact of fungicides on the expression of the studied genes in forager bees. Full article

As companies are trying to build more resilient supply chains using digital twins created by smart manufacturing technologies, it is imperative that senior executives and technology providers understand the crucial role of process simulation and AI in quantifying the uncertainties of these complex systems. The resulting digital twins enable users to replay history, gain predictive visibility into the future, and identify corrective actions to optimize future performance. In this article, we define process digital twins and their four foundational elements. We discuss how key digital twin functions and enabling AI and simulation technologies integrate to describe, predict, and optimize supply chains for Industry 4.0 implementations. Full article

Background: Exploring the experience and impact of aneurysmal subarachnoid hemorrhage (aSAH) from three perspectives, that of those directly affected (AFs), their next of kin (NoK), and treating clinicians, is a way to support and empower others to make informed medical decisions. Methods: In a Swiss neurosurgical intensive care unit (ICU), eleven semi-structured interviews were conducted as part of a Database of Individual Patient Experiences (DIPEx) pilot project and thematically analyzed. Interviews were held with two clinicians, five people experiencing aSAH, and four NoK 14–21 months after the bleeding event. Results: Qualitative analysis revealed five main themes from the perspective of clinicians: emergency care, diagnosis and treatment, outcomes, everyday life in the ICU, and decision-making; seven main themes were identified for AFs and NoK: the experience of the aSAH, diagnosis and treatment, outcomes, impact on loved ones, identity, faith, religion and spirituality, and decision-making. Perspectives on decision-making were compared, and, whereas clinicians tended to focus their attention on determining treatment, AFs and NoK valued participation in shared decision-making processes. Conclusions: Overall, aSAH was perceived as a life-threatening event with various challenges depending on severity. The results suggest the need for tools that aid decision-making and better prepare AFs and NoK using accessible means and at an early stage. Full article

Tunable aryl alkyl ionic liquids (TAAILs) are ionic liquids (ILs) with a 1-aryl-3-alkylimidazolium cation having differently substituted aryl groups. Herein, nine TAAILs with the bis(trifluoromethylsulfonyl)imide anion are utilized in combination with and without ethylene glycol (EG) as reaction media for the rapid microwave synthesis of platinum nanoparticles (Pt-NPs). TAAILs allow the synthesis of small NPs and are efficient solvents for microwave absorption. Transmission electron microscopy (TEM) shows that small primary NPs with sizes of 2 nm to 5 nm are obtained in TAAILs and EG/TAAIL mixtures. The Pt-NPs feature excellent activity as electrocatalysts in the hydrogen evolution reaction (HER) under acidic conditions, with an overpotential at a current density of 10 mA cm⁻² as low as 32 mV vs the reversible hydrogen electrode (RHE), which is significantly lower than the standard Pt/C 20% with 42 mV. Pt-NPs obtained in TAAILs also achieved quantitative conversion in the hydrosilylation reaction of phenylacetylene with triethylsilane after just 5 min at 200 °C. Full article

Multiple Sclerosis (MS) is a complex, lifelong disease. Its effects span across different areas of life and vary strongly. In Switzerland, there is an intense discussion on how to optimize quality of care and patient safety. Patients should be more involved in the management of health care to improve the quality of care from the patient’s perspective and form a more comprehensive perspective. This multiple-case study explores the question of how persons with MS experience and describe functioning related barriers, facilitating factors, and ethically relevant conflicts. To address this from a comprehensive perspective, the MS core set of the International Classification for Functioning, Disability, and Health (ICF) is used as theoretical framework. To explore barriers, facilitators, and relevant ethical issues, different narrative sources were used for thematic analysis and ICF coding: (a) MS transcripts from DIPEx interviews and (b) an autobiographical book of persons living with MS. Insights that were meaningful for daily practice and education were identified: (a) understanding the importance of environmental circumstances based on narrative sources; (b) understanding the importance of a person’s individual life situation, and the ability to switch perspectives in the medical field; (c) respect for PwMS’ individuality in health care settings; (d) creating meaningful relationships for disease management and treatment, as well as building trust. Full article

The potential of using the biomass of four wetland plant species (Iris pseudacorus, Juncus effusus, Phragmites australis and Typha latifolia) grown in treatment wetland systems and under natural conditions were tested to produce high-value materials using hydro-thermal liquefaction (HTL). The results show that the wetland plants biomass is suitable for biocrude and biochar production regardless of the origin. The hydrothermal liquefaction products’ (biocrude, biochar, aqueous and gaseous phase) yields vary according with the specific biomass composition of the species. Furthermore, the results show that the biomass composition can be affected by the growing condition (treatment wetland or natural unpolluted conditions) of the plants. None of the single components seems to have a determinant effect on the biocrude yields, which reached around 30% for all the analyzed plants. On the contrary, the biochar yields seem to be affected by the composition of the biomass, obtaining different yields for the different plant species, with biochar yields values from around 12% to 22%, being that Phragmites australis is the one with the highest average yield. The obtained aqueous phase from the different plant species produces homogeneous compounds for each plant species and each growing environment. The study shows that biomass from treatment wetlands is suitable for biocrude production. The environmental value of this biomass lies on the fact that it is considered a residual product with no aggregated value. The treatment wetland biomass is a potential sustainable source for biofuel production since these plants do not need extra land or nutrients for growing, and the biomass does not compete with other uses, offering new sources for enhancing the bioeconomy concepts. Full article

Parkinson’s disease (PD) has a large impact on patients’ physical and mental health, which also greatly affects their family caregivers. Deep brain stimulation (DBS) has emerged as an effective treatment for PD, but different authors have expressed their concerns about the potential impact of DBS on personality and identity. Our study aims at better understanding how patients and family caregivers experience life with PD and DBS, the impact of both on their personal and social lives, and their perception of the changes that have occurred as a result of the disease and the treatment. Our study applies a multimodal approach by means of narrative semi-structured interviews and drawings. Seven principal themes have been identified: “everyone’s Parkinson’s is different”, “changing as a person during the disease”, “going through Parkinson’s together”, “DBS improved my life”, “I am treated with DBS but I have Parkinson’s still”, “DBS is not perfect”, and “being different after DBS”. PD is perceived as an unpredictable and heterogeneous disease that changes from person to person, as does the effect of DBS. While DBS side-effects may have an impact on patients’ personality, behavior, and self-perception, PD symptoms and drug side-effects also have a great impact on these aspects. Full article

qRT-PCR still remains the most widely used method for quantifying gene expression levels, although newer technologies such as next generation sequencing are becoming increasingly popular. A critical, yet often underappreciated, problem when analysing qRT-PCR data is the selection of suitable reference genes. This problem is compounded in situations where up to 25% of all genes may change (e.g., due to leukocyte invasion), as is typically the case in ARDS. Here, we examined 11 widely used reference genes for their suitability in commonly used models of acute lung injury (ALI): ventilator-induced lung injury (VILI), in vivo and ex vivo, lipopolysaccharide plus mechanical ventilation (MV), and hydrochloric acid plus MV. The stability of reference gene expression was determined using the NormFinder, BestKeeper, and geNorm algorithms. We then proceeded with the geNorm results because this is the only algorithm that provides the number of reference genes required to achieve normalisation. We chose interleukin-6 (Il-6) and C-X-C motif ligand 1 (Cxcl-1) as the genes of interest to analyse and demonstrate the impact of inappropriate normalisation. Reference gene stability differed between the ALI models and even within the subgroup of VILI models, no common reference gene index (RGI) could be determined. NormFinder, BestKeeper, and geNorm produced slightly different, but comparable results. Inappropriate normalisation of Il-6 and Cxcl1 gene expression resulted in significant misinterpretation in all four ALI settings. In conclusion, choosing an inappropriate normalisation strategy can introduce different kinds of bias such as gain or loss as well as under- or overestimation of effects, affecting the interpretation of gene expression data. Full article