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Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion
No full textInfantile-onset lysosomal acid lipase deficiency (LAL-D) (Wolman disease, historically) is a rare inherited, rapidly progressive disorder caused by pathogenic variants in the LIPA gene, which encodes the enzyme LAL. LAL is essential for the metabolism of cholesteryl esters and triglycerides. LAL deficiency leads to the accumulation of cholesteryl esters and triglycerides within the lysosomes, macrophages, and parenchymal cells in most tissue types, including those in the liver, gastrointestinal tract, and lymph nodes but excluding the central nervous system. Infants with rapidly progressive LAL-D present with gastrointestinal disturbance, adrenomegaly with calcification, hepatosplenomegaly, growth failure due to malabsorption, and systemic inflammation. If untreated, rapidly progressive LAL-D typically leads to death within the first year of life. Treatment takes the two-pronged approach of sebelipase alfa, a human lysosomal acid lipase enzyme replacement therapy (ERT) that improves lipid metabolism, combined with nutritional management. Dietary substrate (lipid) reduction, known as substrate reduction therapy, is essential for optimal management in LAL-D. Following a nutritional plan and managing gastrointestinal disturbances together reduce systemic inflammation and improve growth, gut function, liver health, quality of life, and survival in patients with infantile-onset LAL-D. A multidisciplinary specialized team is necessary to manage the highly complex, multisystemic conditions in these patients. Nutritional management of LAL-D has evolved with increasing experience with the clinical management of ERT-treated infantile-onset LAL-D. A review of guidance for best practice nutritional management is needed. This narrative review aims to provide updated recommendations and guidance for the optimal nutritional management of infantile-onset LAL-D
Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy
No full textAlagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder characterized by bile duct paucity, congenital heart defects, characteristic facial features, skeletal anomalies, and distinctive ocular findings. Although anterior segment anomalies such as posterior embryotoxon are well recognized, posterior segment involvement has recently gained attention. We present fundus findings in a 2-year-old boy with genetically confirmed Alagille syndrome. Under general anesthesia, fundus examination revealed pink optic discs with blurred margins and drusen-like deposits, absence of the foveal reflex, and mottled hypopigmented and hyperpigmented areas that were consistent with retinal pigment epithelium (RPE) degeneration. Peripheral pigment clumping and RPE atrophy were also observed, while retinal vessels appeared normal. These features are characteristic of pigmentary retinopathy associated with ALGS and highlight the expanding spectrum of posterior segment changes in this condition. Recognition of such findings is essential, as they may contribute to visual impairment and support the systemic diagnosis
Analysis of Distillate Fractions Collected from a Small Commercial Pot Still Using NMR and GC-MS
No full textIn an effort to evaluate the performance of a 5-gallon pot still in separating yeast-derived congeners during the distillation of a grain-based distiller’s beer, the distillates of a fermented mash of cracked corn, malted barley, and wheat were characterized using 1H NMR spectroscopy and GC-MS. A quantitative comparison using these two techniques is uncommon. Results revealed significant variation in congener concentrations across runs, with a notable discrepancy in the third run possibly due to bacterial contamination, as indicated by high 1-propanol levels. Key congeners, such as acetaldehyde, ethyl acetate, furfural, phenylethanol, and 1,1-diethoxyethane, showed expected distillation behavior across ten fractions, based on their respective boiling points. However, methanol and 1-propanol showed a fairly flat concentration profile across all ten fractions, while those for ethyl octanoate and ethyl hexanoate decreased rapidly and were undetected at fraction 5. White dog (unaged whiskey) fractions from column and combination stills were also analyzed, and the results demonstrate that the small 5-gallon still separates congeners as well as these stills. Finally, a comparison of congener concentrations demonstrates that NMR and GC-MS do not yield identical concentrations of congeners, despite exhibiting similar trends in congener concentrations in the fractions from the still, with GC-MS suggesting higher levels
Prototype of Hydrochemical Regime Monitoring System for Fish Farms
No full textThis paper presents a prototype of an autonomous hydrochemical monitoring system developed for large freshwater aquaculture facilities, directly addressing the need for smart monitoring in Agriculture 4.0. The proposed solution employs low-power sensor nodes based on commercially available components and long-range LoRaWAN communication to achieve continuous, scalable, and energy-efficient water quality monitoring. Each sensor module performs on-board signal preprocessing, including anomaly detection and short-term forecasting of key hydrochemical parameters. An ecological pond dynamics model incorporating an Extended Kalman Filter is used to fuse heterogeneous sensor data with predictive estimates, thus increasing measurement reliability. High-level data analysis, long-term storage, and cross-site comparison are performed on the server side. This integration enables adaptive tracking of environmental variations, supports early detection of hazardous trends associated with fish mortality risks, and allows one to explain and justify the reasoning behind every recommended corrective action. The performance of the forecasting and filtering algorithms is evaluated, and key system characteristics—including measurement accuracy, power consumption, and scalability—are discussed. Preliminary tests of the system prototype have shown that it can predict the dissolved oxygen level with RMSE = 0.104 mg/L even with a minimum set of sensors. The results demonstrate that the proposed conceptual design of the system can be used as a base for real-time monitoring and predictive assessment of hydrochemical conditions in aquaculture environments
Diagnostic Techniques and Epidemiological Methods for Parasites in Beekeeping: Considerations and Perspectives
No full textPests contribute significantly to the loss of Apis mellifera colonies in a multifactorial context that includes viruses, pesticides, nutritional deficiencies, and climate change. This review critically summarises diagnostic techniques (morphological, molecular, automated) and epidemiological methods for the main parasites (Varroa destructor, Vairimorpha spp., Acarapis woodi, Tropilaelaps spp., Aethina tumida, Lotmaria passim, Crithidia mellificae), evaluating trade-offs between sensitivity, specificity, cost, and practicality. There is no universal gold standard; the methodological choice must be contextualised. A decision-making framework structured on four pillars (Primary objective, Resource constraints, Epidemiological context, Ethics/Regulatory) is proposed to guide optimal selections, with application examples and testable hypotheses for future validation. Limitations of emerging technologies (reduced accuracy in the field for AI and LAMP), gaps in multi-pathogen synergies (including viruses and bacteria), interactions with pesticides, and climate impacts with explicit uncertainties are discussed. A global perspective and a One Health approach are adopted, identifying research priorities for integrated diagnostic tools, validated predictive models, and sustainable strategies
Flexible Copper-Based TEM Grid for Microscopic Characterization of Aged Magnetotactic Bacteria MS-1 and Their Magnetosome Crystals in Air-Dried Droplet
No full textMagnetotactic bacteria (MTB) have attracted interest in recent years, mainly due to their natural ability to form intracellular magnetic nanocrystals with potential for biomedical and environmental applications. In this study, we focused on the morphological analysis of the Paramagnetospirillum magnetotacticum MS-1 strain, trying to keep the bacteria as close to their natural state as possible. An important element of this work is the use of untreated bacterial cells, without conductive coating or chemical fixation, using a simple and low-cost support. This choice was made intentionally to avoid changes induced by metallization and to allow direct observation of characteristics that may be relevant in applications where the interaction of the bacteria with the environment plays an important role, such as biosensors. In addition, the analysis was performed on a bacterial suspension stored for approximately 10 months at 4 °C to assess whether the morphology specific to the MS-1 strain is maintained over time. The obtained results show that the general cell morphology and magnetosome organization can be clearly and reproducibly observed even after long-term storage. Without attempting to replace studies based on conventional sample preparation methods, this work provides a complementary perspective and suggests that magnetotactic bacteria may represent a natural and effective alternative to synthetic magnetic nanoparticles, with potential applications in the biomedical and environmental fields
Climate Change and Ecological Restoration Synergies Shape Ecosystem Services on the Southeastern Tibetan Plateau
No full textGlobal environmental changes significantly alter ecosystem services (ESs), particularly in fragile regions like the Tibetan Plateau. While methodological advances have improved spatial assessment capabilities, understanding of how multiple drivers interact to shape ecosystem service heterogeneity remains limited to regional scales, especially across complex alpine landscapes. This study aims to clarify whether multi-factor interactions produce nonlinear enhancements in ES explanatory power and how these driver–response relationships vary across heterogeneous terrains. We quantified spatiotemporal patterns of four key ecosystem services—water yield (WY), soil conservation (SC), carbon sequestration (CS), and habitat quality (HQ)—across the southeastern Tibetan Plateau from 2000 to 2020 using multi-source remote sensing data and spatial econometric modeling. Our analysis reveals that SC increased by 0.43 t·hm−2·yr−1, CS rose by 1.67 g·m−2·yr−1, and HQ improved by 0.09 over this period, while WY decreased by 3.70 mm·yr−1. ES variations are predominantly shaped by potent synergies, where interactive explanatory power consistently surpasses individual drivers. Hydrothermal coupling (precipitation ∩ potential evapotranspiration) reached 0.52 for WY and SC, while climate–vegetation synergy (precipitation ∩ normalized difference vegetation index) achieved 0.76 for CS. Such climate–restoration synergies now fundamentally shape the region’s ESs. Geographically weighted regression (GWR) further revealed distinct spatial dependencies, with southeastern regions experiencing strong negative effects of land use type and elevation on WY, while northwestern areas showed a positive elevation associated with WY but negative effects on SC and HQ. These findings highlight the critical importance of accounting for spatial non-stationarity in driver–ecosystem service relationships when designing conservation strategies for vulnerable alpine ecosystems
Direct Pulp Capping of Dental Pulp with Two Different Autologous Platelet Concentrates A-PRF+ and H-PRF—A Report on Two Cases
No full textBackground: Autologous platelet concentrates, including platelet-rich fibrin (PRF) matrices, have been proposed as biologically active scaffolds for vital pulp therapy. Evidence on the clinical use of different solid PRF matrices for direct pulp capping remains limited. Objective: The aim of this study is to describe and monitor two clinical cases of reversible pulpitis treated with direct pulp capping using two PRF membranes prepared by different centrifugation approaches, namely advanced platelet-rich fibrin plus (A-PRF+) and horizontal platelet-rich fibrin plus (H-PRF). Methods: In Case 1, A-PRF+ was prepared using a fixed-angle centrifugation protocol; in Case 2, H-PRF was prepared using a horizontal centrifugation protocol. In both cases, deep carious lesions with small carious pulp exposures (<1.5 mm) were managed by caries removal, ozone-assisted dentin disinfection, and direct pulp capping with the respective PRF membrane, followed by temporary calcium-silicate cement definitive coronal restoration. Clinical and radiographic follow-up, including cone-beam computed tomography, was performed for up to 12 months. Results: In Case 1 (A-PRF+), reparative dentin bridge formation was confirmed at 90 days, with a thickness of 0.2 mm. In Case 2 (H-PRF), reparative dentin was observed within 46 days, with a thickness of 0.28 mm. In both cases, pulp vitality was maintained, and no clinical symptoms or periapical changes were detected during the 12-month follow-up. Conclusions: These two cases suggest that direct pulp capping using PRF membranes (A-PRF+ or H-PRF), combined with ozone-assisted dentin disinfection and adequate coronal sealing, may be associated with maintained pulp vitality and hard-tissue repair after carious pulp exposure diagnosed as reversible pulpitis. Due to the descriptive two-case design and major confounding factors (including age and lesion characteristics), no comparative conclusions can be drawn. Prospective controlled clinical studies with standardized protocols are warranted
Plant Viral Vectors for Vaccine Development
No full textPlant viruses are useful tools for quickly and easily producing recombinant proteins in plants. Compared to systems that use genetically modified plants, viral vectors are easier to work with and can produce recombinant proteins faster and in larger amounts. Recently, there has been growing interest in using plant viruses as vectors to make vaccines, either as whole proteins or as small parts displayed on plant virus particles. The best examples for this purpose are tobacco mosaic virus, cowpea mosaic virus and potato virus X. Vaccines made using these viruses target various human and animal diseases and have often triggered immune responses and provided protection against infections. This review looks at the benefits of using plant virus vectors, the progress in developing different viral vector systems, and immune studies that support the idea of vaccines made from plant viruses
Whole-Genome Sequencing of Sinorhizobium Phage AP-202, a Novel Siphovirus from Agricultural Soil
No full textBacteriophages are a key ecological factor in the legume rhizosphere, controlling bacterial populations and affecting introduced inoculant strains. Despite their importance, rhizobiophage genomic diversity remains poorly characterized. We report the complete genome of a novel predicted temperate Sinorhizobium phage, AP-202, isolated from agricultural Chernozem. This siphovirus infects the symbiont Sinorhizobium meliloti. Its 121,599 bp dsDNA genome has a strikingly low GC content (27.1%), likely reflecting adaptive evolution and a strategy to evade host defenses. The linear genome is flanked by 240 bp direct terminal repeats (DTRs), and its DNA packaging follows a T7-like strategy. Annotation predicted 178 protein-coding genes and one tRNA. Functional analysis revealed a complete lysogeny module and a divergent, two-pronged codon-usage strategy for translational control. A significant part of the proteome (74.2%) comprises hypothetical proteins, with 50 CDSs having no database homologs, underscoring its genetic novelty. Complete-genome comparison shows minimal similarity to known rhizobiophages, defining AP-202 as a distinct lineage. Phenotypic analysis indicates AP-202 acts as a selective ecological filter, with host resistance being more prevalent in agricultural than in natural soils. The AP-202 genome provides a unique model for studying phage–host coevolution in the rhizosphere and is a valuable resource for comparative genomics and soil virome research