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18 pages, 2227 KB  
Article
The Effect of Petroleum-Derived Compounds in Soil on Microbiological Activity and the Physiological State of Plants
by Marcin J. Małuszyński, Bogumiła Pawluśkiewicz, Tomasz Gnatowski, Ilona Małuszyńska, Elżbieta Wołejko, Urszula Wydro, Martyna Prończuk and Piotr Dąbrowski
Appl. Sci. 2026, 16(4), 2076; https://doi.org/10.3390/app16042076 - 20 Feb 2026
Viewed by 496
Abstract
Petroleum contamination significantly impacts soil microbial communities and vegetation; however, the long-term effectiveness of phytoremediation remains poorly understood. This study evaluated soil microbiological activity, polycyclic aromatic hydrocarbon (PAH) concentrations, and physiological responses five years after the remediation of a petroleum spill site in [...] Read more.
Petroleum contamination significantly impacts soil microbial communities and vegetation; however, the long-term effectiveness of phytoremediation remains poorly understood. This study evaluated soil microbiological activity, polycyclic aromatic hydrocarbon (PAH) concentrations, and physiological responses five years after the remediation of a petroleum spill site in central Poland. Following a pipeline failure in June 2020 that released diesel fuel and gasoline into the riparian habitat, the contaminated area underwent remediation using Urtica dioica L. as the primary phytoremediator. Soil samples from five plots along a contamination gradient were analyzed for microbial abundance (total bacteria, fungi, fluorescent Pseudomonas sp.), PAH fractions (C6–C12, C13–C16, C17–C35), and physicochemical properties. Chlorophyll fluorescence (JIP test) on two species was used to assess plant photosynthetic efficiency. Results revealed that successful PAH degradation required high fungal abundance rather than optimal soil fertility. Plots with 8–9-fold higher fungal populations achieved 69–81% reduction in heavy PAHs (C17–C35), while the Control plot, despite superior physicochemical properties, maintained high contamination due to low fungal colonization. Urtica dioica exhibited exceptional tolerance (stable maximum quantum yield of PSII (Fv/Fm) and elevated photosynthetic performance index (PIabs)) across all contamination levels, whereas Poa trivialis L. showed significant stress responses. The principal component analysis confirmed that soil texture influences fungal establishment, with sandy soils favoring aerobic degradation despite lower nutrient retention. These findings demonstrate that phytoremediation success depends critically on fungal-mediated biodegradation rather than baseline soil quality alone. Full article
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21 pages, 3753 KB  
Article
Enhanced PAH Degradation in Freeze–Thaw Farmland Soil Using Composite Biochar-Immobilized Cold-Tolerant Microbial Consortium
by Dan Su, Ruohong Shang, Huaipeng Zhai, Yushan Dong and Sunan Xu
Agronomy 2026, 16(4), 472; https://doi.org/10.3390/agronomy16040472 - 19 Feb 2026
Viewed by 693
Abstract
This study focused on slightly to moderately PAH-contaminated farmland soils in freeze–thaw regions of Northeast China, aiming to fill the research gap in the in situ remediation mechanisms of PAHs under natural freeze–thaw conditions. A 12-month in situ experiment was conducted with four [...] Read more.
This study focused on slightly to moderately PAH-contaminated farmland soils in freeze–thaw regions of Northeast China, aiming to fill the research gap in the in situ remediation mechanisms of PAHs under natural freeze–thaw conditions. A 12-month in situ experiment was conducted with four treatments—blank control (CK), biochar (BC), microbial agent (MA), and immobilized microorganisms (IM)—to verify that biochar-loaded IM alleviates temperature stress and sustains efficient PAH removal by regulating soil and microbial properties. PAH removal efficiency and soil chemical properties were monitored during both normal-temperature and freeze–thaw periods, and the soil bacterial community structure was analyzed at the end of the experiment. Results showed that IM achieved the optimal remediation performance with a total PAH removal rate of 72.53%, was least affected by temperature fluctuations, and maintained stable remediation during the freeze–thaw period. IM increased soil nutrient contents, with available potassium and nitrogen exerted positive effects on PAH degradation; it also enriched the functional genes K00626 and K00457 and comprehensively optimized the bacterial community. This study clarified the core remediation mechanism and provided scientific, technical, and theoretical support for related in situ remediation practices. Full article
(This article belongs to the Section Soil and Plant Nutrition)
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32 pages, 1418 KB  
Review
Advances in Phytoremediation-Based Strategies for Co-Contaminated Riparian Soils: A Review
by Jian Wang, Na Luo and Bin Ji
Water 2026, 18(3), 412; https://doi.org/10.3390/w18030412 - 4 Feb 2026
Viewed by 1230
Abstract
Riparian soils co-contaminated with heavy metals and organic pollutants present a formidable environmental challenge; conventional single-target remediation strategies are frequently insufficient due to the synergistic interactions between contaminant classes. This review offers a systematic synthesis of phytoremediation as an integrative and ecologically sustainable [...] Read more.
Riparian soils co-contaminated with heavy metals and organic pollutants present a formidable environmental challenge; conventional single-target remediation strategies are frequently insufficient due to the synergistic interactions between contaminant classes. This review offers a systematic synthesis of phytoremediation as an integrative and ecologically sustainable paradigm for addressing these complex multi-pollutant scenarios. Through a critical examination of underlying mechanisms—namely phytoextraction, rhizodegradation, phytostabilization, and phytovolatilization—we evaluate the efficacy of selected hyperaccumulator and pollution-tolerant species in simultaneously mitigating inorganic (e.g., Pb, Cd, As) and organic (e.g., PAHs, pesticides) contaminants. Furthermore, the discussion highlights emerging strategic integrations, including genetic engineering for enhanced metal accumulation, the application of engineered nanomaterials to modulate pollutant bioavailability and plant stress tolerance, rhizosphere amendment with low-molecular-weight organic acids, and biochar-mediated immobilization coupled with microbial stimulation. The analysis posits that phytoremediation, particularly when augmented by these advanced synergies, constitutes a viable, multifunctional, and environmentally benign strategy for the holistic restoration of riparian ecosystems. Future inquiries should prioritize the mechanistic elucidation of combined technologies, the development of predictive performance models, and rigorous long-term field validation to guarantee operational efficacy and environmental safety. Full article
(This article belongs to the Section Water and One Health)
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11 pages, 858 KB  
Communication
Inhaled Treprostinil: Improvements in Hemodynamics and Quality of Life for Patients with Pulmonary Arterial Hypertension on Dual or Triple Therapy
by Shogo Ikegami, Takahiro Hiraide, Takashi Maeda, Mizuki Momoi, Yoshiki Shinya, Atsushi Anzai, Yasuyuki Shiraishi, Yoshinori Katsumata and Masaki Ieda
J. Clin. Med. 2025, 14(24), 8776; https://doi.org/10.3390/jcm14248776 - 11 Dec 2025
Viewed by 1032
Abstract
Background: Pulmonary arterial hypertension (PAH) leads to right ventricular failure and death. Inhaled treprostinil, a tricyclic benzindene prostacyclin analog, has become available, but evidence regarding its clinical efficacy and quality-of-life (QoL) benefits—particularly in patients already receiving optimized combination vasodilator therapy—remains limited. Methods: Inhaled [...] Read more.
Background: Pulmonary arterial hypertension (PAH) leads to right ventricular failure and death. Inhaled treprostinil, a tricyclic benzindene prostacyclin analog, has become available, but evidence regarding its clinical efficacy and quality-of-life (QoL) benefits—particularly in patients already receiving optimized combination vasodilator therapy—remains limited. Methods: Inhaled treprostinil was introduced to nine patients with PAH already receiving combination therapy with pulmonary vasodilators. Acute hemodynamic effects were assessed during initial right heart catheterization, and long-term effects were evaluated at baseline and 3 months after treatment. Exercise tolerance was assessed by the 6-minute walking distance (6MWD) test and cardiopulmonary exercise testing, while QoL was evaluated using the Kansas City Cardiomyopathy Questionnaire-12 (KCCQ-12). Results: Mean pulmonary arterial pressure significantly improved both acutely (48.9 ± 17.8 to 43.7 ± 14.5 mmHg, p = 0.036) and at 3 months (46.4 ± 16.1 to 39.8 ± 14.1 mmHg, p = 0.014). Pulmonary vascular resistance tended to decrease, while 6MWD outcomes remained unchanged. QoL improved, with KCCQ-12 overall and clinical summary scores increasing from 59.1 ± 27.4 to 67.1 ± 26.5 and 78.1 ± 26.3 to 87.5 ± 21.2, respectively. Conclusions: Treprostinil inhalation improved hemodynamics and patient-reported outcomes despite prior combination improved hemodynamics and tended to enhance QoL in patients with PAH receiving combination vasodilator therapy. Full article
(This article belongs to the Special Issue Pulmonary Hypertension: Advances in Clinical Diagnosis and Management)
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22 pages, 2616 KB  
Article
Corn-Domesticated Bacteria Synergy Removes Pyrene and Enhances Crop Biomass: A Sustainable Farmland Remediation Strategy
by Lu Gao, Charles Obinwanne Okoye, Feiyue Lou, Bonaventure Chidi Ezenwanne, Yanfang Wu, Xunfeng Chen, Yongli Wang, Xia Li and Jianxiong Jiang
Agriculture 2025, 15(19), 2083; https://doi.org/10.3390/agriculture15192083 - 6 Oct 2025
Viewed by 868
Abstract
High-molecular-weight polycyclic aromatic hydrocarbons (PAHs), such as pyrene, are persistent environmental pollutants that threaten soil health and agricultural productivity due to their resistance to degradation. This study evaluated the efficacy of domesticated bacteria isolated from contaminated farmland soil and activated sludge, used alone [...] Read more.
High-molecular-weight polycyclic aromatic hydrocarbons (PAHs), such as pyrene, are persistent environmental pollutants that threaten soil health and agricultural productivity due to their resistance to degradation. This study evaluated the efficacy of domesticated bacteria isolated from contaminated farmland soil and activated sludge, used alone and in combination with corn (Zea mays L.), to remove pyrene from soil, enhance plant growth, improve tolerance, and ensure crop safety. Six bacterial strains were isolated: three from polluted farmland soil (WB1, WB2, and WF2) and three from activated sludge (WNB, WNC, and WH2). High-throughput 16S rRNA amplicon sequencing profiled bacterial communities after 30 days of treatment. Analytical tools, including LEfSe, random forest, and ZiPi analyses, identified biomarkers and core bacteria associated with pyrene degradation, assessing their correlations with plant growth, tolerance, and pyrene accumulation in corn straw. Bacteria from activated sludge (WNB, WNC, and WH2) outperformed farmland soil-derived strains and the inoculant strain ETN19, with WH2 and WNC achieving 65.06% and 87.69% pyrene degradation by days 15 and 30, respectively. The corn–bacteria consortium achieved up to 97% degradation. Activated sewage sludge (ASS)-derived bacteria were more effective at degrading pyrene and enhancing microbial activity, while soil-derived bacteria better promoted plant growth and reduced pyrene accumulation in straw. Microbial communities, dominated by Proteobacteria, exhibited high species richness and resilience, contributing to xenobiotic degradation. The corn-domesticated bacteria consortia effectively degraded pyrene, promoted plant growth, and minimized pollutant accumulation in crops. This remediation technology offers a promising strategy for rapid and sustainable bioremediation of agricultural soils contaminated with organic compounds such as PAHs or other complex pollutants, while promoting the development of efficient bacterial communities that enhance crop growth. Full article
(This article belongs to the Section Agricultural Soils)
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12 pages, 766 KB  
Article
Development and Validation of a Scoring System for Prediction of Tolerance to Inhaled Treprostinil in Patients with PAH or PH-ILD
by Alan Lanurias Diaz, Ashwin Kumar, Obada Kholoki, David M. O’Sullivan, Kristen Swanson, Brett Carollo, Joseph Bahgat, Harrison W. Farber and Raj Parikh
J. Clin. Med. 2025, 14(18), 6395; https://doi.org/10.3390/jcm14186395 - 10 Sep 2025
Viewed by 1356
Abstract
Background: Treprostinil has demonstrated effectiveness in treating Pulmonary Arterial Hypertension (PAH) and Pulmonary Hypertension associated with Interstitial Lung Disease (PH-ILD). However, tolerability remains a clinical challenge. Identifying factors influencing tolerability is important, given the adverse outcomes of PAH and PH-ILD and the [...] Read more.
Background: Treprostinil has demonstrated effectiveness in treating Pulmonary Arterial Hypertension (PAH) and Pulmonary Hypertension associated with Interstitial Lung Disease (PH-ILD). However, tolerability remains a clinical challenge. Identifying factors influencing tolerability is important, given the adverse outcomes of PAH and PH-ILD and the potential of treprostinil to slow disease progression. Objective: This study was undertaken to identify tolerance factors and develop a predictive scoring system. Methods: A retrospective analysis of 65 patients (37 PAH, 28 PH-ILD) was conducted using patient history, pulmonary function tests (PFTs), transthoracic echocardiograms (TTEs), and right heart catheterizations (RHCs). Of these, 67.7% (n = 44) tolerated treprostinil, while 32.3% (n = 21) were intolerant. Results: Patients who tolerated treprostinil had better pulmonary function, with a higher forced expiratory volume in one second/forced vital capacity (FEV1/FVC) ratio (82.27 ± 16.06 vs. 72.86 ± 17.76, p = 0.037) and superior right ventricular function, as indicated by higher tricuspid annular plane systolic excursion (TAPSE: 2.05 ± 0.37 vs. 1.64 ± 0.42, p < 0.001), higher cardiac index (CI: 2.51 ± 0.67 vs. 2.03 ± 0.53, p = 0.003), and improved functional status (p < 0.001). The Inhaled Treprostinil Intolerance Score (ITIS), incorporating TAPSE < 1.6, CI < 2, FEV1/FVC < 70%, and WHO functional class (FC) 3 or 4, demonstrated strong predictive accuracy (cutoff ≥ 2, AUC = 0.884 ± 0.048, p < 0.001). Predictive performance was stronger in PAH patients (AUC = 0.921 ± 0.053) than PH-ILD (AUC = 0.833 ± 0.093, p < 0.001). Conclusions: These findings demonstrate the importance of clinical parameters in predicting treprostinil tolerance. Further investigation is warranted to refine the scoring system, particularly for PH-ILD patients. Full article
(This article belongs to the Special Issue Advances in Pulmonary Hypertension and Idiopathic Pulmonary Fibrosis)
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14 pages, 255 KB  
Article
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring
by Manuela Lo Bianco, Roberta Leonardi, Alessia Migliore, Evelina Moliteo, Monica Sciacca, Sergio Rinella, Maria Grazia Pappalardo, Luisa La Spina, Marianna Messina, Riccardo Iacobacci, Martino Ruggieri, Concetta Meli and Agata Polizzi
Nutrients 2025, 17(17), 2892; https://doi.org/10.3390/nu17172892 - 7 Sep 2025
Viewed by 2219
Abstract
Background: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications. Management relies on a Phe-restricted [...] Read more.
Background: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications. Management relies on a Phe-restricted diet, which is challenging to maintain, particularly in adolescents and adults. Sapropterin dihydrochloride, a synthetic form of tetrahydrobiopterin (BH4), can enhance residual PAH activity, lowering blood Phe levels and increasing dietary tolerance in responsive patients. However, real-world alignment with best practices remains underexplored. This study aims to report a tertiary referral center’s experience with sapropterin treatment in PKU and assess adherence to international guidelines. Methods: We retrospectively analyzed 23 PKU patients treated with sapropterin from 2007 to 2025. Patients with baseline Phe levels of 360–2000 µmol/L underwent a 10 mg/kg/day loading test over two weeks. Responsiveness was defined as a ≥30% reduction in blood Phe levels. Phe levels were measured pre- and post-test, and dietary tolerance was evaluated. Adherence to best practices was critically reviewed. Results: All patients showed significant Phe reductions (mean 71.43%, p < 0.0001), exceeding responsiveness thresholds. Most achieved substantial increases in dietary Phe tolerance, with three patients partially responsive (800–1200 mg/day). Responsiveness was unrespectful of the patient’s genotype, for those individuals for whom this was known (8/23 patients). Although effective, the test dose and duration differed from guideline recommendations (20 mg/kg/day). Neuropsychological and QoL assessments were not systematically performed, representing a key limitation. Conclusions: Sapropterin dihydrochloride effectively identified responders and improved dietary flexibility even with lower dosing protocols. Greater adherence to international standards, particularly regarding long-term neuropsychological monitoring, is needed to optimize patient care. Full article
15 pages, 2897 KB  
Article
Study and Modification of the Polycyclic Aromatic Hydrocarbon Degradation Gene Cluster in Burkholderia sp. FM-2
by Jiajun Ma, Ying Zhai, Yumeng Cui, Guohui Gao, Ming Ying, Yihe Zhao, Agostinho Antunes, Lei Huang and Meitong Li
Microorganisms 2025, 13(9), 2079; https://doi.org/10.3390/microorganisms13092079 - 6 Sep 2025
Viewed by 1575
Abstract
Polycyclic aromatic hydrocarbons (PAHs) are a class of persistent organic pollutants composed of two or more fused benzene rings, posing serious threats to ecological environments and human health. Biodegradation is an efficient, economical, and sustainable approach for remediating PAHs pollution. In our previous [...] Read more.
Polycyclic aromatic hydrocarbons (PAHs) are a class of persistent organic pollutants composed of two or more fused benzene rings, posing serious threats to ecological environments and human health. Biodegradation is an efficient, economical, and sustainable approach for remediating PAHs pollution. In our previous work, we isolated and characterized a PAH-degrading bacterium, Burkholderia sp. FM-2. FM-2 demonstrated strong tolerance and efficient degradation capacity toward various PAHs, achieving 81.98% degradation of 2 mM phenanthrene within 3 days, and over 58% degradation of 2 mM fluorene, dibenzofuran, and dibenzothiophene under the same conditions. Through combined genomic and transcriptomic analyses, a putative PAH degradation gene cluster was identified in the FM-2 genome. Phylogenetic and domain architecture analyses were conducted on seven oxygenase genes within the cluster. Using AlphaFold 3, we predicted the three-dimensional structure of the downstream transport protein OmpW and proposed a potential transmembrane channel for PAHs uptake. To eliminate the phenanthrene degradation intermediate 1-hydroxy-2-naphthoic acid, a genetically engineered strain FM-2::nahG was constructed by heterologous expression of the salicylate hydroxylase gene (nahG). The modified strain completely abolished the accumulation of 1-hydroxy-2-naphthoic acid and achieved complete mineralization of phenanthrene. This study not only reveals the molecular basis of PAHs degradation in Burkholderia sp. FM-2 but also demonstrates the potential of metabolic engineering to enhance biodegradation ability, providing a promising microbial candidate for the bioremediation of PAH-polluted environments. Full article
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24 pages, 7845 KB  
Article
Metabolomics and Lipidomics Explore Phenotype-Specific Molecular Signatures for Phenylketonuria
by Buket Yurteri Şahiner, Ali Dursun and Basri Gülbakan
Int. J. Mol. Sci. 2025, 26(15), 7171; https://doi.org/10.3390/ijms26157171 - 25 Jul 2025
Cited by 4 | Viewed by 2450
Abstract
Phenylketonuria (PKU) is a monogenic disorder caused by pathogenic variants in the gene encoding phenylalanine hydroxylase (PAH), an enzyme essential for phenylalanine (Phe) metabolism. It is characterized by elevated Phe levels, leading to a wide spectrum of clinical phenotypes. These phenotypes are characterized [...] Read more.
Phenylketonuria (PKU) is a monogenic disorder caused by pathogenic variants in the gene encoding phenylalanine hydroxylase (PAH), an enzyme essential for phenylalanine (Phe) metabolism. It is characterized by elevated Phe levels, leading to a wide spectrum of clinical phenotypes. These phenotypes are characterized by varying Phe accumulation, dietary tolerance, and heterogeneous cognitive and neurological outcomes, but current monitoring methods, focused primarily on blood Phe levels, are limited in capturing this variability. In this study, we applied mass spectrometry-based advanced quantitative amino acid analyses, untargeted metabolomics, and lipidomics analyses. We examined the plasma metabolite and lipid profiles in a total of 73 individuals with various PKU phenotypes against healthy controls to see how the metabolome and lipidome of the patients change in different phenotypes. We investigated whether novel markers could be associated with metabolic control status. By elucidating the metabolic and lipid fingerprints of PKU’s phenotypic variability, our findings may provide novel insights that could inform the refinement of dietary and pharmacological interventions, thereby supporting the development of more personalized treatment strategies. Full article
(This article belongs to the Section Molecular Biology)
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11 pages, 892 KB  
Article
Sotatercept for Connective Tissue Disease-Associated Pulmonary Arterial Hypertension with Concomitant Interstitial Lung Disease: Efficacy and Safety Insights
by Chebly Dagher, Maria Akiki, Kristin Swanson, Brett Carollo, Garett Fiscus, Harrison W. Farber and Raj Parikh
J. Clin. Med. 2025, 14(15), 5177; https://doi.org/10.3390/jcm14155177 - 22 Jul 2025
Cited by 2 | Viewed by 4000
Abstract
Background/Objectives: Sotatercept has demonstrated efficacy in pulmonary arterial hypertension (PAH), but its use has not been studied in patients with Group 3 pulmonary hypertension (PH). Additionally, patients with connective tissue disease-associated PAH (CTD-PAH) were underrepresented in the STELLAR trial. Given the limited [...] Read more.
Background/Objectives: Sotatercept has demonstrated efficacy in pulmonary arterial hypertension (PAH), but its use has not been studied in patients with Group 3 pulmonary hypertension (PH). Additionally, patients with connective tissue disease-associated PAH (CTD-PAH) were underrepresented in the STELLAR trial. Given the limited treatment options for pulmonary hypertension in patients with interstitial lung disease (PH-ILD), this study aimed to evaluate the use of sotatercept in CTD-PAH patients with concomitant ILD. Methods: Eligible patients (n = 7) had a confirmed diagnosis of CTD-PAH with concomitant ILD. The patients were already receiving background PAH therapy. Baseline hemodynamic and clinical measurements were reassessed after 24 weeks of sotatercept therapy. The variables assessed included six-minute walk distance (6MWD), pulmonary vascular resistance (PVR), echocardiographic right ventricular systolic pressure (eRVSP), N-terminal pro-brain natriuretic peptide (NT-proBNP) levels, World Health Organization (WHO) functional class, and supplemental oxygen requirements. Results: The study included seven patients with a mean age of 57 years (range: 39–73 years). After 24 weeks, the mean 6MWT distance increased from 211 m to 348 m (p < 0.01). Mean PVR decreased from 7.77 WU at baseline to 4.53 WU (p < 0.01). Mean eRVSP decreased from 79.43 mmHg to 54.14 mmHg (p < 0.01). NT-proBNP decreased from 3056.86 pg/mL to 1404.29 pg/mL (p < 0.01). The WHO functional class and supplemental oxygen requirements improved in all patients. Conclusions: Sotatercept was tolerated in patients with CTD-PAH and ILD, with no evidence of adverse respiratory effects. When added to foundational PAH therapy, sotatercept resulted in significant improvements across multiple parameters. These findings suggest that sotatercept may be a promising therapeutic option as an adjunctive treatment in this patient population. Full article
(This article belongs to the Section Respiratory Medicine)
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17 pages, 1063 KB  
Article
Genotype–Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up
by Maria Chiara Consentino, Luisa La Spina, Concetta Meli, Marianna Messina, Manuela Lo Bianco, Annamaria Sapuppo, Maria Grazia Pappalardo, Riccardo Iacobacci, Alessia Arena, Michele Vecchio, Martino Ruggieri, Agata Polizzi and Andrea Domenico Praticò
Nutrients 2025, 17(3), 379; https://doi.org/10.3390/nu17030379 - 21 Jan 2025
Cited by 1 | Viewed by 2938
Abstract
Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications. This study aims to describe the genetic [...] Read more.
Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications. This study aims to describe the genetic and phenotypic spectrum of PKU and mild hyperphenylalaninemia (m-HPA) in patients diagnosed at the Department of Inborn Errors of Metabolism and Newborn Screening, Hospital G. Rodolico-S. Marco, Catania, over four decades (1987–2023). Materials and Methods: The retrospective analysis included 102 patients with elevated blood phenylalanine (Phe) levels born in Sicily and followed at the Institute. The phenotype evaluation comprised the Phe levels at birth/diagnosis, dietary tolerance, and sapropterin dihydrochloride responsiveness. The dietary compliance and Phe/Tyr ratios were assessed and compared across phenotypic classes and age groups. Results: Of 102 patients, 34 were classified as having classic PKU, 9 as having moderate PKU, 26 as having mild PKU, and 33 as having m-HPA, with a median age of 21.72 years. Common PAH variants included c.1066-11G>A (26/204 alleles), c.782G>A (18/204 alleles), and c.165delT (13/204 alleles). The phenotypes sometimes diverged from the genotype predictions, emphasizing dietary tolerance over the initial Phe levels for classification: m-HPA was statistically associated with a higher dietary tolerance (p < 0.001) compared to the classic, moderate, or mild forms of PKU. Conclusions: This study highlights the importance of large databases (e.g., BioPKU) for phenotype prediction and treatment optimization. Regular assessment of Phe/Tyr ratios is crucial for monitoring adherence and health. Phenotype determination, dietary management, and emerging therapies (Pegvaliase and gene therapy) are key to improving outcomes for PKU patients. Full article
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12 pages, 1758 KB  
Article
Environmental Pollutant Anthracene Induces ABA-Dependent Transgenerational Effects on Gemmae Dormancy in Marchantia polymorpha
by Juan I. Tolopka, Maya Svriz, Tamara M. Ledesma, Eugenia Lanari, José M. Scervino and Javier E. Moreno
Plants 2024, 13(21), 2979; https://doi.org/10.3390/plants13212979 - 25 Oct 2024
Cited by 1 | Viewed by 1716
Abstract
Anthracene, a polycyclic aromatic hydrocarbon (PAH) from fossil fuel combustion, poses significant environmental threats. This study investigates the role of abscisic acid (ABA) in the anthracene tolerance of the liverwort Marchantia polymorpha using mutants deficient in ABA perception (Mppyl1) or biosynthesis (Mp [...] Read more.
Anthracene, a polycyclic aromatic hydrocarbon (PAH) from fossil fuel combustion, poses significant environmental threats. This study investigates the role of abscisic acid (ABA) in the anthracene tolerance of the liverwort Marchantia polymorpha using mutants deficient in ABA perception (Mppyl1) or biosynthesis (Mpaba1). In this study, we monitored the role of ABA in the anthracene tolerance response by tracking two ABA-controlled traits: plant growth inhibition and gemmae dormancy. We found that the anthracene-induced inhibition of plant growth is dose-dependent, similar to the growth-inhibiting effect of ABA, but independent of ABA pathways. However, gemmae dormancy was differentially affected by anthracene in ABA-deficient mutants. We found that gemmae from anthracene-exposed WT plants exhibited reduced germination compared to those from mock-treated plants. This suggests that the anthracene exposure of mother plants induces a transgenerational effect, resulting in prolonged dormancy in their asexual propagules. While Mppyl1 gemmae retained a dormancy delay when derived from anthracene-exposed thalli, the ABA biosynthesis mutant Mpaba1 did not display any significant dormancy delay as a consequence of anthracene exposure. These results, together with the strong induction of ABA marker genes upon anthracene treatment, imply that anthracene-induced germination inhibition relies on ABA synthesis in the mother plant, highlighting the critical role of MpABA1 in the tolerance response. These findings reveal a complex interplay between anthracene stress and ABA signaling, where anthracene triggers ABA-mediated responses, influencing reproductive success and highlighting the potential for leveraging genetic and hormonal pathways to enhance plant resilience in contaminated habitats. Full article
(This article belongs to the Special Issue Bryophyte Biology)
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18 pages, 4866 KB  
Review
Research Progress and Hotspots in Microbial Remediation for Polluted Soils
by Shuai Zhao, Xue-Tao Yuan, Xiao-Hong Wang, Yan-Jun Ai and Fu-Ping Li
Sustainability 2024, 16(17), 7458; https://doi.org/10.3390/su16177458 - 29 Aug 2024
Cited by 10 | Viewed by 6173
Abstract
Microbial remediation has become a prominent focus in soil pollution control due to its environmental friendliness, cost-effectiveness, and high efficiency. The effectiveness of microbial remediation is rooted in the interactions between microbial metabolic activities and the soil environment. Various microorganisms employ distinct mechanisms [...] Read more.
Microbial remediation has become a prominent focus in soil pollution control due to its environmental friendliness, cost-effectiveness, and high efficiency. The effectiveness of microbial remediation is rooted in the interactions between microbial metabolic activities and the soil environment. Various microorganisms employ distinct mechanisms for pollutant treatment, including surface adsorption, intracellular accumulation, and biomineralization. Using the Web of Science Core Collection database, tools such as CiteSpace 6.1.R6, VOSviewer 1.6.20, and HistCite Pro were employed to conduct a quantitative analysis of several key aspects: the volume and thematic distribution of research papers on microbial remediation of soils, the cooperative networks between countries and institutions, the leading journals, major research hotspots, and emerging trends. The analysis reveals that utilizing microbial regulatory mechanisms and functions to remediate inorganic pollutants, such as heavy metals, and organic pollutants, such as PAHs, is becoming a significant frontier in future research. This study provides a valuable reference for scholars aiming to understand the current status of microbial research in soil remediation, both domestically and internationally. It also offers guidance for developing efficient, sustainable, and safe remediation strategies while identifying directions for future innovative research. The specific results are as follows: (1) China, the USA, India, and other countries have a high frequency of citations in this field, and the research is more in-depth. (2) More and more attention has been paid to the use of microbial remediation of contaminated soil in the world, mainly in Environmental Sciences. (3) Major publications include Chemosphere, Journal of Hazardous Materials, and Science of The Total Environment. In the key literature, the use of microorganisms to restore the soil environment and the combination of microorganisms and plants to repair soil contaminated by heavy metals occupy a high proportion. (4) The key areas of focus include the application of microorganisms in soil inorganic pollution remediation, the application of microorganisms in remediation of soil organic pollution (crude oil and polycyclic aromatic hydrocarbons (PAHs)), and the contribution of microorganisms to soil pollutant degradation and toxicity assessment systems. The research and development of combined microbial remediation technology is the current research hotspot in the field of soil remediation, focusing on the symbiosis between mycorrhizal fungi and plant roots, the enhancement in the ability of microorganisms to absorb and degrade pollutants and their tolerance, and the interaction mechanism between indigenous microorganisms and plants. Full article
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16 pages, 6901 KB  
Article
Hormesis in the Assessment of Toxicity Assessment by Luminescent Bacterial Methods
by Haoyu Si, Guoquan Zhou, Yu Luo, Zhuoxuan Wang, Xuejun Pan and Guohua Dao
Toxics 2024, 12(8), 596; https://doi.org/10.3390/toxics12080596 - 17 Aug 2024
Cited by 7 | Viewed by 2247
Abstract
The threat posed by water pollutants to aquatic ecosystems and human health cannot be overlooked, and the assessment of the toxicity of these contaminants is paramount to understanding their risks and formulating effective control measures. Luminescent bacteria-based assays, as a vital tool in [...] Read more.
The threat posed by water pollutants to aquatic ecosystems and human health cannot be overlooked, and the assessment of the toxicity of these contaminants is paramount to understanding their risks and formulating effective control measures. Luminescent bacteria-based assays, as a vital tool in evaluating contaminant toxicity, encounter a challenge in ensuring accuracy due to the phenomenon of “Hormesis” exhibited by pollutants towards biological entities, which may skew toxicity assessments. This study elucidated the specific effects of pollutants on luminescent bacteria at different concentrations, used modeling to characterize the effects and predict their toxicity trends, and explored the applicable concentration ranges for different pollutants. Research revealed that six typical pollutants, namely PAHs, endocrine disruptors, antibiotics, pesticides, heavy metals, and phytosensory substances, could promote the luminescence intensity of luminescent bacteria at low concentrations, and the promotional effect increased and then decreased. However, when the concentration of the substances reached a certain threshold, the effect changed from promotional to inhibitory, and the rate of inhibition was directly proportional to the concentration. The EC50 values of six types of substances to luminescent bacteria is as follows: endocrine disruptors > pesticides > antibiotics > heavy metals > polycyclic aromatic hydrocarbons > chemosensory agents. The effect curves were further fitted using the model to analyze the maximum point of the promotion of luminescence intensity by different substances, the threshold concentration, and the tolerance of luminescent bacteria to different substances. The maximum promotion of bacterial luminescence intensity was 29% for Bisphenol A at 0.005 mg/L and the minimum threshold concentration of chromium was 0.004 mg/L, and the maximum bacterial tolerance to erythromycin is 6.74. In addition, most of the current environmental concentrations had a positive effect on luminescent bacteria and may still be in the range of concentrations that promote luminescence as the substances continue to accumulate. These findings will enhance the accuracy and comprehensiveness of toxicity assessments, thereby facilitating more informed and effective decision-making in the realms of environmental protection and pollution management. Full article
(This article belongs to the Section Hormesis in Toxicology)
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Article
Phenanthrene-Induced Cytochrome P450 Genes and Phenanthrene Tolerance Associated with Arabidopsis thaliana CYP75B1 Gene
by Francisco Cabello-Hurtado and Abdelhak El Amrani
Plants 2024, 13(12), 1692; https://doi.org/10.3390/plants13121692 - 19 Jun 2024
Cited by 4 | Viewed by 2602
Abstract
Polycyclic aromatic hydrocarbons (PAHs) form an important group of organic pollutants due to their distribution in the environment and their carcinogenic and/or mutagenic effects. In order to identify at the molecular level some of the players in the biodegradation and tolerance response to [...] Read more.
Polycyclic aromatic hydrocarbons (PAHs) form an important group of organic pollutants due to their distribution in the environment and their carcinogenic and/or mutagenic effects. In order to identify at the molecular level some of the players in the biodegradation and tolerance response to PAHs in plants, we have phenotyped 32 Arabidopsis thaliana T-DNA mutant lines corresponding to 16 cytochrome P450 (CYP) genes that showed to be differentially expressed under contrasted stress conditions induced by phenanthrene, a 3-ring PAH. This screening has allowed us to identify CYP75B1 (At5g07990) T-DNA mutants as the only ones being sensitive to phenanthrene-induced stress, supporting that CYP75B1 protein is necessary for PAH tolerance. CYP75B1 codes for a 3′flavonol hydroxylase. CYP75B1 gene was heterologously expressed on yeast in order to investigate whether it affects the A. thaliana response to phenanthrene by participating in its metabolization. Heterologously-produced CYP75B1 enzyme shows to be catalytically efficient against its physiological substrates (e.g., naringenin) but unable to metabolize phenanthrene or 9-phenanthrenol. In contrast, CYP75B1 seems rather involved in phenanthrene tolerance as a crucial element by regulating concentration of antioxidants through the production of 3′-hydroxylated flavonoids such as quercetin and cyanidin. In particular, we report a highly increased generation of reactive oxygen species (H2O2 and singlet oxygen) in cyp75b1 mutants compared to control plants in response to phenanthrene treatment. Overall, CYP75B1 shows to play an important role in the response to the deleterious effects of phenanthrene exposure and this is related to oxidative stress sensitivity rather than metabolization. Full article
(This article belongs to the Section Plant Response to Abiotic Stress and Climate Change)
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