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Authors = Katalin Fodor

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34 pages, 1413 KiB  
Review
Resistant Starch and Microbiota-Derived Secondary Metabolites: A Focus on Postbiotic Pathways in Gut Health and Irritable Bowel Syndrome
by Eniko Kovacs, Katalin Szabo, Rodica-Anita Varvara, Alina Uifãlean, Angela Cozma, Romana Vulturar, Adela Viviana Sitar-Taut, Rosita Gabbianelli, Mari C. W. Myhrstad, Vibeke H. Telle-Hansen, Olga Hilda Orãșan, Adriana Fodor, Ramona Suharoschi and Simona-Codruţa Hegheș
Int. J. Mol. Sci. 2025, 26(16), 7753; https://doi.org/10.3390/ijms26167753 - 11 Aug 2025
Viewed by 281
Abstract
Resistant starch (RS) is emerging as a multifunctional dietary component and delivery platform for microbiota-accessible carbohydrates. Upon fermentation by gut microbiota, particularly in the colon, RS generates a wide spectrum of postbiotic compounds—including short-chain fatty acids (SCFAs), indoles, bile acid derivatives, and neuroactive [...] Read more.
Resistant starch (RS) is emerging as a multifunctional dietary component and delivery platform for microbiota-accessible carbohydrates. Upon fermentation by gut microbiota, particularly in the colon, RS generates a wide spectrum of postbiotic compounds—including short-chain fatty acids (SCFAs), indoles, bile acid derivatives, and neuroactive amines such as GABA and serotonin precursors. These metabolites modulate gut–brain signaling, immune responses, and intestinal barrier integrity, which are critical pathways in the pathophysiology of irritable bowel syndrome (IBS). This review synthesizes current knowledge on RS structure, classification, and fermentation dynamics, with a special focus on RS3 due to its practical dietary relevance and strong microbiota-modulatory effects. We highlight emerging evidence from clinical studies supporting RS-mediated improvements in IBS symptoms, microbial diversity, and inflammation. Importantly, RS acts as a smart colonic delivery system by escaping enzymatic digestion in the small intestine and reaching the colon intact, where it serves as a targeted substrate for microbial fermentation into bioactive metabolites. This host–microbiota interplay underpins the development of personalized, microbiome-informed nutrition interventions tailored to specific IBS subtypes. Future directions include omics-based stratification, optimized RS formulations, and predictive algorithms for individualized responses. This review aims to clarify the mechanistic links between RS fermentation and postbiotic production, highlighting its therapeutic potential in IBS management. Full article
(This article belongs to the Special Issue Bioactive Compound Delivery Systems and Microbiome Interactions)
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19 pages, 2692 KiB  
Article
Low-Dose Quercetin Dephosphorylates AKT and Suppresses Proteins Related to Migration in Human Metastatic Uveal Melanoma Cells
by Petra Fodor, József Király, Zsuzsanna Szabó, Katalin Goda, Barbara Zsebik and Gábor Halmos
Life 2025, 15(6), 979; https://doi.org/10.3390/life15060979 - 18 Jun 2025
Viewed by 515
Abstract
Background: Uveal melanoma (UM) is the most common intraocular cancer of the eye, with high metastatic potential in adults. In 50% of patients, UM spreads to other tissues, causing a fatal outcome. Flavonoids are bioactive phenolic compounds found in fruits and plants, thus [...] Read more.
Background: Uveal melanoma (UM) is the most common intraocular cancer of the eye, with high metastatic potential in adults. In 50% of patients, UM spreads to other tissues, causing a fatal outcome. Flavonoids are bioactive phenolic compounds found in fruits and plants, thus commonly present in the natural diet. Quercetin is the most remarkable agent among flavonols proved to have an anticancer effect. Thus, we aimed to investigate the effect of quercetin on a metastatic UM cell line MM28. Methods: MM28 cells were treated with increasing concentrations of quercetin (0.1–10 µM). The changes of proliferation and migration markers were studied both in gene and protein expression level by qPCR, Western blotting, and Proteome Profiler Human XL Oncology Array. Results: Quercetin had only a slight anti-proliferative effect on MM28 cells. However, 1 µM of quercetin significantly elevated the mRNA expression of the Maspin gene and downregulated MMP2 gene expression. In addition, the protein expression levels of pAKT, NF-κB, and MMP8 were significantly decreased by the treatment. Conclusions: Our findings indicate that low-dose (1 µM) quercetin treatment is able to suppress the expression of certain migration markers, and therefore, it might be a useful adjuvant compound to reduce metastasis formation of UM. Full article
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13 pages, 907 KiB  
Review
Central Sleep Apnea in Adults: An Interdisciplinary Approach to Diagnosis and Management—A Narrative Review
by Alpár Csipor Fodor, Dragoș Huțanu, Corina Eugenia Budin, Maria Beatrice Ianoși, Delia Liana Rachiș, Hédi-Katalin Sárközi, Mara Andreea Vultur and Gabriela Jimborean
J. Clin. Med. 2025, 14(7), 2369; https://doi.org/10.3390/jcm14072369 - 29 Mar 2025
Cited by 4 | Viewed by 2213
Abstract
Central sleep apnea (CSA) is a heterogeneous group of sleep-related breathing disorders characterized by intermittent absence of respiratory effort during sleep. CSA results from impaired neurological signaling from the respiratory centers to the respiratory muscles, leading to airflow cessation for at least 10 [...] Read more.
Central sleep apnea (CSA) is a heterogeneous group of sleep-related breathing disorders characterized by intermittent absence of respiratory effort during sleep. CSA results from impaired neurological signaling from the respiratory centers to the respiratory muscles, leading to airflow cessation for at least 10 s. Major causes include heart failure, opioid use, central neurological disorders, and altitude exposure. This review outlines the pathophysiology of CSA, emphasizing ventilatory instability and brainstem dysfunction as key mechanisms. It details the classification of CSA subtypes, including Cheyne–Stokes respiration, high-altitude CSA, and drug-induced CSA. Clinical manifestations range from excessive daytime sleepiness to cardiovascular complications. Diagnostic approaches encompass polygraphy, polysomnography, and various laboratory tests to evaluate comorbidities. Treatment requires a multidisciplinary approach, addressing underlying conditions while utilizing positive airway pressure (PAP) therapy, adaptive servo-ventilation (ASV), supplemental oxygen, and pharmacological interventions. Newer modalities, such as phrenic nerve stimulation, offer promising outcomes for CSA management. This review underscores the necessity of an individualized, interdisciplinary strategy to improve patient outcomes in CSA. Full article
(This article belongs to the Special Issue Moving Forward to New Trends in Pulmonary Diseases)
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11 pages, 256 KiB  
Article
Epidemiological Insights and Diagnostic Strategies of Extrarespiratory Tuberculosis: A Five-Year Retrospective Study in Clinic of Pneumology, Târgu Mureș
by Gabriela Jimborean, Edith-Simona Ianoși, Dragoș Huțanu, Hédi-Katalin Sárközi, Mara Andreea Vultur, Maria Beatrice Ianosi and Alpár Csipor-Fodor
Appl. Sci. 2024, 14(23), 11259; https://doi.org/10.3390/app142311259 - 3 Dec 2024
Viewed by 1046
Abstract
Background: Tuberculosis remains one of the biggest global public health problems today. The objective of this study was to evaluate the diagnostic methods, clinical outcomes, patient compliance, and mortality rates in patients diagnosed with extrarespiratory tuberculosis. Methods: 105 cases of extrarespiratory tuberculosis were [...] Read more.
Background: Tuberculosis remains one of the biggest global public health problems today. The objective of this study was to evaluate the diagnostic methods, clinical outcomes, patient compliance, and mortality rates in patients diagnosed with extrarespiratory tuberculosis. Methods: 105 cases of extrarespiratory tuberculosis were analyzed over a five-year period (2018–2023). Data from medical records were reviewed and processed. Diagnostic methods included Ziehl–Nielsen staining, Löwenstein–Jensen cultures, GeneXpert, and histopathological analysis. Diagnosis was supplemented by a specialist organ examination and, in cases with concurrent pulmonary involvement, by a chest X-ray and sputum examination. For negative cases, a probabilistic diagnosis was made. Results: Most patients presented pleural TB (38%), osteo-articular TB (26.67%), and ganglionary TB (19%). Patients were mostly men (56.19%), in the 18–40 years-old category (40%), and lived in rural areas (61%). In total, 94.29% were newly diagnosed and most observed comorbidites were chronic smoking (11.37%), chronic lung diseases (10.20%), and malnutrition (9.02%). Moreover, 68% had a negative microscopic examination, while 55% had negative cultures on Löwenstein–Jensen. Conclusions: This study highlights the importance of a multi-modal approach to diagnosing extrarespiratory tuberculosis, especially in negative bacteriological and histopathological results. Imaging, combined with clinical and epidemiological data, is critical for a probabilistic diagnosis. GeneXpert proved useful in difficult cases. This study emphasizes the need for a comprehensive diagnostic strategy to effectively manage extrarespiratory tuberculosis. Full article
(This article belongs to the Special Issue Tuberculosis—a Millennial Disease in the Age of New Technologies)
28 pages, 4427 KiB  
Article
Finding the Green Grass in the Haystack? Integrated National Assessment of Ecosystem Services and Condition in Hungary, in Support of Conservation and Planning
by Eszter Tanács, Ágnes Vári, Ákos Bede-Fazekas, András Báldi, Edina Csákvári, Anett Endrédi, Veronika Fabók, Lívia Kisné Fodor, Márton Kiss, Péter Koncz, Anikó Kovács-Hostyánszki, János Mészáros, László Pásztor, Rita Rezneki, Tibor Standovár, Zita Zsembery and Katalin Török
Sustainability 2023, 15(11), 8489; https://doi.org/10.3390/su15118489 - 23 May 2023
Cited by 6 | Viewed by 2242
Abstract
Human well-being needs healthy ecosystems, providing multiple ecosystem services. Therefore, the assessment of ecosystems on large scales is a priority action. In Hungary, this work (MAES-HU) took place between 2016 and 2022. Twelve ecosystem services (ES) were mapped and assessed along with several [...] Read more.
Human well-being needs healthy ecosystems, providing multiple ecosystem services. Therefore, the assessment of ecosystems on large scales is a priority action. In Hungary, this work (MAES-HU) took place between 2016 and 2022. Twelve ecosystem services (ES) were mapped and assessed along with several ecosystem condition (EC) indicators. Their integrated spatial analysis aimed to identify patterns of ES multifunctionality, reveal relationships between EC and ES and delineate ES bundles. The results show outstanding multifunctionality of natural ecosystem types compared with the more artificial types, emphasizing the importance of natural areas in order to fulfil human needs. Native forests provide the most varied range of services, which underlines the importance of forest management to consider multiple services. There is a positive correlation between condition and multifunctionality in forests; areas in better condition (in terms of species composition and structure) provide more services at an outstanding level. ES bundles mainly reflect the major ecosystem types, topography and forest condition. Our analysis represents an example of synthesizing national MAES results with a combination of methods. Finding ES hotspots on a national scale and connecting them with an assessment of EC may help in finding optimal strategies to balance conservation targets and competing land uses. Full article
(This article belongs to the Special Issue Assessment of Ecosystem Services at Different Scales)
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17 pages, 2343 KiB  
Article
Effects of Nutrient Supply and Seed Size on Germination Parameters and Yield in the Next Crop Year of Winter Wheat (Triticum aestivum L.)
by István Kristó, Marianna Vályi-Nagy, Attila Rácz, Katalin Irmes, Lajos Szentpéteri, Márton Jolánkai, Gergő Péter Kovács, Mária Ágnes Fodor, Apolka Ujj, Klára Veresné Valentinyi and Melinda Tar
Agriculture 2023, 13(2), 419; https://doi.org/10.3390/agriculture13020419 - 10 Feb 2023
Cited by 14 | Viewed by 3791
Abstract
Winter wheat is one of the most important crops globally and also in Hungary. Hungary has excellent crop production potential including seed production. The aim of our experiment is to determine the effects of different amounts and proportions of nutrients and those of [...] Read more.
Winter wheat is one of the most important crops globally and also in Hungary. Hungary has excellent crop production potential including seed production. The aim of our experiment is to determine the effects of different amounts and proportions of nutrients and those of the seed size of winter wheat in laboratory seed tests on the seed parameters (germination percentage, germination power, seedling health and vigour), as well as in field tests of the seed parameters (emergence percentage and yield of next crop year). Laboratory seed tests of winter wheat variety GK Petur were conducted with seeds that underwent ten nutrient treatments and of three seed size fractions over four crop years, together with field experiments in three growing seasons. Compared to the untreated control group, N treatments significantly decreased the health of the seedlings in the next generation of winter wheat. PK treatments without N increased the germination percentage, vigour value and emergence percentage significantly, but the health of the seedlings decreased. In contrast, NPK treatments with a ratio of 2:1:1 improved all the tested parameters compared to those of the control group. The increase in seed sizes significantly increased the germination power, seedling health, vigour value, emergence percentage and the yield of the next crop year. It can be concluded that the factors of nutrient supply, crop year of the seed production and the seed size significantly influence the quality of the seed (germination percentage, germination power, seedling health, vigour and emergence percentage), thus also the yield of the next generation. Full article
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10 pages, 2551 KiB  
Article
The Threat of Mercury Poisoning by Fish Consumption
by Felicia Dragan, Marieta Lestyan, Vasile Valeriu Lupu, Florin Mihai Marcu, Alina Cozma, Katalin Fodor, Anamaria Ciubara, Corina Florentina Moisa, Diana Teaha, Ancuta Lupu, Iuliana Magdalena Starcea, Alina Elena Ignat and Alexandru Bogdan Ciubara
Appl. Sci. 2023, 13(1), 369; https://doi.org/10.3390/app13010369 - 27 Dec 2022
Cited by 11 | Viewed by 5458
Abstract
(1) Background: Fish is a good source of protein, iron, and zinc, which are key nutrients for infant growth and development, as well as a source of energy for adults and the elderly. Due to mercury contamination in both the terrestrial and aquatic [...] Read more.
(1) Background: Fish is a good source of protein, iron, and zinc, which are key nutrients for infant growth and development, as well as a source of energy for adults and the elderly. Due to mercury contamination in both the terrestrial and aquatic environments, there is a risk that considerable levels of mercury will be ingested by the population, causing undesired illnesses and metabolic symptoms once they reach the body. The purpose of this research was to show and emphasize the hazardous effect of mercury in diverse marine products; (2) Methods: We conducted a comparative, open, randomized, non-interventional study on a study group of 119 adults from varied social and demographic backgrounds to assess the bad repercussions of mercury poisoning from fish consumption. A questionnaire with 18 questions was prepared in order to obtain information about the impact, i.e., the dangers present in fish meat. The research was carried out in Oradea and Bihor County, Romania; (3) Results: The largest age group was between the ages of 25–34, but we had respondents from almost all age groups. Most of them considered the fish healthy (30%) and that the omega-3 fatty acids have beneficial effects on the body (25.10%). More than a half of respondents (55%) were unaware of the hidden danger in fish meat in the form of mercury derivatives. Most respondents (65%) considered that they did not consume enough amounts of fish to suffer the consequences of this phenomenon. More than a half of respondents (59%) agreed that they should have been made aware beforehand by displaying the hazards of excessive intake of some high mercury concentration fish species; (4) Conclusions: It is imperative that the population be informed about dangers of mercury toxicity when consuming fish. Mercury must be gradually eliminated worldwide by replacing it with safer alternatives. Full article
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22 pages, 2049 KiB  
Article
National Ecosystem Services Assessment in Hungary: Framework, Process and Conceptual Questions
by Ágnes Vári, Eszter Tanács, Eszter Tormáné Kovács, Ágnes Kalóczkai, Ildikó Arany, Bálint Czúcz, Krisztina Bereczki, Márta Belényesi, Edina Csákvári, Márton Kiss, Veronika Fabók, Lívia Kisné Fodor, Péter Koncz, Róbert Lehoczki, László Pásztor, Róbert Pataki, Rita Rezneki, Zsuzsanna Szerényi, Katalin Török, Anikó Zölei, Zita Zsembery and Anikó Kovács-Hostyánszkiadd Show full author list remove Hide full author list
Sustainability 2022, 14(19), 12847; https://doi.org/10.3390/su141912847 - 9 Oct 2022
Cited by 12 | Viewed by 3434
Abstract
Mapping and assessing ecosystem services (ES) projects at the national level have been implemented recently in the European Union in order to comply with the targets set out in the EU’s Biodiversity Strategy for 2020 and later in the Strategy for 2030. In [...] Read more.
Mapping and assessing ecosystem services (ES) projects at the national level have been implemented recently in the European Union in order to comply with the targets set out in the EU’s Biodiversity Strategy for 2020 and later in the Strategy for 2030. In Hungary this work has just been accomplished in a large-scale six-year project. The Hungarian assessment was structured along the ES cascade with each level described by a set of indicators. We present the selected and quantified indicators for 12 ES. For the assessment of cascade level 4, human well-being, a set of relevant well-being dimensions were selected. The whole process was supported by several forms of involvement, interviews, consultations and workshops and in thematic working groups performing the ES quantifications, followed by building scenarios and synthesizing maps and results. Here we give an overview of the main steps and results of the assessment, discuss related conceptual issues and recommend solutions that may be of international relevance. We refine some definitions of the cascade levels and suggest theoretical extensions to the cascade model. By finding a common basis for ES assessments and especially for national ones, we can ensure better comparability of results and better adoption in decision making. Full article
(This article belongs to the Special Issue Assessment of Ecosystem Services at Different Scales)
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29 pages, 3473 KiB  
Review
Type Strains of Entomopathogenic Nematode-Symbiotic Bacterium Species, Xenorhabdus szentirmaii (EMC) and X. budapestensis (EMA), Are Exceptional Sources of Non-Ribosomal Templated, Large-Target-Spectral, Thermotolerant-Antimicrobial Peptides (by Both), and Iodinin (by EMC)
by András Fodor, Maxime Gualtieri, Matthias Zeller, Eustachio Tarasco, Michael G. Klein, Andrea M. Fodor, Leroy Haynes, Katalin Lengyel, Steven A. Forst, Ghazala M. Furgani, Levente Karaffa and Tibor Vellai
Pathogens 2022, 11(3), 342; https://doi.org/10.3390/pathogens11030342 - 11 Mar 2022
Cited by 12 | Viewed by 5025
Abstract
Antimicrobial multidrug resistance (MDR) is a global challenge, not only for public health, but also for sustainable agriculture. Antibiotics used in humans should be ruled out for use in veterinary or agricultural settings. Applying antimicrobial peptide (AMP) molecules, produced by soil-born organisms for [...] Read more.
Antimicrobial multidrug resistance (MDR) is a global challenge, not only for public health, but also for sustainable agriculture. Antibiotics used in humans should be ruled out for use in veterinary or agricultural settings. Applying antimicrobial peptide (AMP) molecules, produced by soil-born organisms for protecting (soil-born) plants, seems a preferable alternative. The natural role of peptide-antimicrobials, produced by the prokaryotic partner of entomopathogenic-nematode/bacterium (EPN/EPB) symbiotic associations, is to sustain monoxenic conditions for the EPB in the gut of the semi-anabiotic infective dauer juvenile (IJ) EPN. They keep pathobiome conditions balanced for the EPN/EPB complex in polyxenic (soil, vanquished insect cadaver) niches. Xenorhabdus szentirmaii DSM16338(T) (EMC), and X. budapestensis DSM16342(T) (EMA), are the respective natural symbionts of EPN species Steinernema rarum and S. bicornutum. We identified and characterized both of these 15 years ago. The functional annotation of the draft genome of EMC revealed 71 genes encoding non-ribosomal peptide synthases, and polyketide synthases. The large spatial Xenorhabdus AMP (fabclavine), was discovered in EMA, and its biosynthetic pathway in EMC. The AMPs produced by EMA and EMC are promising candidates for controlling MDR prokaryotic and eukaryotic pathogens (bacteria, oomycetes, fungi, protozoa). EMC releases large quantity of iodinin (1,6-dihydroxyphenazine 5,10-dioxide) in a water-soluble form into the media, where it condenses to form spectacular water-insoluble, macroscopic crystals. This review evaluates the scientific impact of international research on EMA and EMC. Full article
(This article belongs to the Special Issue Biological Plant Protection)
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22 pages, 9973 KiB  
Article
Rescue of Vasopressin Synthesis in Magnocellular Neurons of the Supraoptic Nucleus Normalises Acute Stress-Induced Adrenocorticotropin Secretion and Unmasks an Effect on Social Behaviour in Male Vasopressin-Deficient Brattleboro Rats
by Bibiána Török, Péter Csikota, Anna Fodor, Diána Balázsfi, Szilamér Ferenczi, Kornél Demeter, Zsuzsanna E. Tóth, Katalin Könczöl, Judith Camats Perna, Imre Farkas, Krisztina J. Kovács, József Haller, Mario Engelmann and Dóra Zelena
Int. J. Mol. Sci. 2022, 23(3), 1357; https://doi.org/10.3390/ijms23031357 - 25 Jan 2022
Cited by 6 | Viewed by 3855
Abstract
The relevance of vasopressin (AVP) of magnocellular origin to the regulation of the endocrine stress axis and related behaviour is still under discussion. We aimed to obtain deeper insight into this process. To rescue magnocellular AVP synthesis, a vasopressin-containing adeno-associated virus vector (AVP-AAV) [...] Read more.
The relevance of vasopressin (AVP) of magnocellular origin to the regulation of the endocrine stress axis and related behaviour is still under discussion. We aimed to obtain deeper insight into this process. To rescue magnocellular AVP synthesis, a vasopressin-containing adeno-associated virus vector (AVP-AAV) was injected into the supraoptic nucleus (SON) of AVP-deficient Brattleboro rats (di/di). We compared +/+, di/di, and AVP-AAV treated di/di male rats. The AVP-AAV treatment rescued the AVP synthesis in the SON both morphologically and functionally. It also rescued the peak of adrenocorticotropin release triggered by immune and metabolic challenges without affecting corticosterone levels. The elevated corticotropin-releasing hormone receptor 1 mRNA levels in the anterior pituitary of di/di-rats were diminished by the AVP-AAV-treatment. The altered c-Fos synthesis in di/di-rats in response to a metabolic stressor was normalised by AVP-AAV in both the SON and medial amygdala (MeA), but not in the central and basolateral amygdala or lateral hypothalamus. In vitro electrophysiological recordings showed an AVP-induced inhibition of MeA neurons that was prevented by picrotoxin administration, supporting the possible regulatory role of AVP originating in the SON. A memory deficit in the novel object recognition test seen in di/di animals remained unaffected by AVP-AAV treatment. Interestingly, although di/di rats show intact social investigation and aggression, the SON AVP-AAV treatment resulted in an alteration of these social behaviours. AVP released from the magnocellular SON neurons may stimulate adrenocorticotropin secretion in response to defined stressors and might participate in the fine-tuning of social behaviour with a possible contribution from the MeA. Full article
(This article belongs to the Special Issue Nonapeptide Hormones)
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23 pages, 2423 KiB  
Article
Competence-Oriented, Data-Driven Approach for Sustainable Development in University-Level Education
by Szabina Fodor, Ildikó Szabó and Katalin Ternai
Sustainability 2021, 13(17), 9977; https://doi.org/10.3390/su13179977 - 6 Sep 2021
Cited by 13 | Viewed by 4030
Abstract
Higher education has a number of key roles to play in accelerating progress toward sustainability goals. It has a responsibility to provide and teach curricula that are tailored to labor market needs, to help change people’s attitudes and motivation toward sustainability, and to [...] Read more.
Higher education has a number of key roles to play in accelerating progress toward sustainability goals. It has a responsibility to provide and teach curricula that are tailored to labor market needs, to help change people’s attitudes and motivation toward sustainability, and to reduce inequalities between different students. Course leaders and developers of curricula should monitor and assess these needs in order to improve their curricula from time to time. In the present work, we describe a data-driven approach based on text-mining techniques to identify the competences required for a given position based on job advertisements. To demonstrate the usefulness of our suggested method, the supply chain management occupation was selected as the supply chain is a constantly changing domain that is highly affected by green activities and initiatives, and the COVID-19 pandemic strongly influenced this sector, as well. This data-driven process allowed the identification of required soft and hard skills contained in job descriptions. However, it was found that some important concepts of green supply chain management, such as repair and refurbishment, were only marginally mentioned in the job advertisements. Therefore, in addition to labor market expectations, a business process model from relevant green supply chain management literature was developed to complement the required competences. The given new techniques can support the paradigm shift toward sustainable development and help curriculum developers and decision makers assess labor market needs in the area of sustainability skills and competences. The given result can serve as an input of outcome-based training development to design learning objective-based teaching materials. Full article
(This article belongs to the Special Issue Mobilizing Higher Education for the 2030 Agenda)
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13 pages, 3682 KiB  
Article
Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary
by Zsuzsanna Szűcs, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon and István Balogh
Genes 2021, 12(9), 1331; https://doi.org/10.3390/genes12091331 - 27 Aug 2021
Cited by 7 | Viewed by 3794
Abstract
Ufmylation is a relatively newly discovered type of post-translational modification when the ubiquitin-fold modifier 1 (UFM1) protein is covalently attached to its target proteins in a three-step enzymatic reaction involving an E1 activating enzyme (UBA5), E2 conjugating enzyme (UFC1), and E3 ligase enzyme [...] Read more.
Ufmylation is a relatively newly discovered type of post-translational modification when the ubiquitin-fold modifier 1 (UFM1) protein is covalently attached to its target proteins in a three-step enzymatic reaction involving an E1 activating enzyme (UBA5), E2 conjugating enzyme (UFC1), and E3 ligase enzyme (UFL1). The process of ufmylation is essential for normal brain development and function in humans. Mutations in the UFM1 gene are associated with Hypomyelinating leukodystrophy type 14, presenting with global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, and hypomyelination, with atrophy of the basal ganglia and cerebellum phenotypes. The c.-155_-153delTCA deletion in the promoter region of UFM1 is considered to be a founding mutation in the Roma population. Here we present four index patients with homozygous UFM1:c.-155_-153delTCA mutation detected by next-generation sequencing (whole genome/exome sequencing) or Sanger sequencing. This mutation may be more common in the Roma population than previously estimated, and the targeted testing of the UFM1:c.-155_-153delTCA mutation may have an indication in cases of hypomyelination and neurodegenerative clinical course in pediatric patients of Roma descent. Full article
(This article belongs to the Collection Genotype-Phenotype Study in Disease)
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14 pages, 491 KiB  
Article
Aspects Regarding the Pharmaceutical Waste Management in Romania
by Simona Bungau, Delia Mirela Tit, Katalin Fodor, Gabriela Cioca, Maricel Agop, Ciprian Iovan, Delia Carmen Nistor Cseppento, Adrian Bumbu and Cristiana Bustea
Sustainability 2018, 10(8), 2788; https://doi.org/10.3390/su10082788 - 7 Aug 2018
Cited by 93 | Viewed by 13652
Abstract
The issue of drug disposal, as well as the development and implementation of efficient collection strategies, represents an important concern at the highest European level. This research looks into the factors that could have an impact on the efficiency of pharmacies in collecting [...] Read more.
The issue of drug disposal, as well as the development and implementation of efficient collection strategies, represents an important concern at the highest European level. This research looks into the factors that could have an impact on the efficiency of pharmacies in collecting and disposing the medicinal waste of the population. There were 521 pharmacists from all over the country who filled in a questionnaire on their opinion/attitude related to the system of collecting and disposing the pharmaceutical waste of the population. Of the surveyed pharmacists, 16% work in pharmacies that do not collect unused/expired drugs from the population, and nearly 33% of those investigated have refused, at least once, to take the unused medicines from the people. Pharmacists’ most important reasons for refusing to collect the pharmaceutical waste were the lack of procedure, incomplete legislation, exceeding the amount contracted with the operators, and high costs. Results show that pharmacies in Romania face several deficiencies in the pharmaceutical waste collection services. The lack of implemented programs has contributed considerably to lower standards of pharmaceutical waste management in Romania. This study is the first research on this topic in Romania, a country where the management of drug-based waste generated by the population is at the beginning. The results shown in this survey can provide a reference point for competent authorities in developing and implementing a take-back program for waste medicine whose efficiency is superior to the existing ones. Full article
(This article belongs to the Collection Trends in Municipal Solid Waste Management)
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