Search Results (20)

Congenital eye malformations like microphthalmia–anophthalmia–coloboma (MAC), anterior segment dysgenesis (ASD), primary congenital glaucoma (PCG) and congenital cataracts (CC) are significant causes of childhood visual impairment. Phenotypic heterogeneity often complicates diagnosis. The goal of this study was to optimize the diagnostic strategy for next-generation sequencing (NGS)-based procedures, thereby aiming to identify genetic causes of congenital eye malformations. Forty patients with congenital eye malformations were included. A primary diagnostic testing (PD) of a limited number of genes was followed by multigene panel (MGP) testing, including 186 eye-related genes, and exome sequencing. Causative variants were identified in 17 patients (43%) and clinically relevant variants of uncertain significance (VUS) in 6 patients (15%). PD had a diagnostic yield (DY) of 15%, MGP of 29% and exome sequencing of 4%, leading to a cumulative DY of 43%. Diagnostic rates were highest in CC (75%), bilateral cases (46%), complex ocular phenotypes (78%), patients with extraocular manifestations (55%) and positive family history (70%). Rare and possible new genotype–phenotype correlations and candidate genes (FAT1, POGZ) could be identified. In total, eight (likely) pathogenic variants in six genes (CYP1B1, ADAMTS18, MAB21L2, NHS, MFRP, CRYBB1) were not yet reported. A stepwise genetic testing approach starting with a broad multigene panel followed by exome sequencing provides higher diagnostic yield than limited phenotype-specific testing. Comprehensive genetic diagnosis is essential for prognosis, treatment and genetic counseling, underscoring the need for routine genetic testing and interdisciplinary collaboration in managing congenital eye malformations. Full article

Background: Malnutrition and unintended weight loss are frequent in cancer patients and linked to poorer outcomes. However, data on long-term weight trajectories, particularly comparing different cancer entities, remain limited. Methods: In this retrospective, multicenter study, we analyzed 145 patients diagnosed with either head and neck cancer (HNC; n = 48) or high-grade B-cell lymphoma (HGBCL; n = 97). Body weight, C-reactive protein (CrP), albumin, and modified Glasgow Prognostic Score (mGPS) were assessed at diagnosis and at 3, 6, 9, and 12 months. Clinically relevant weight loss was defined as >5% from baseline. Survival analyses were performed for HGBCL patients. Results: Weight loss was common in both cohorts, affecting 32.2% at 3 months and persisting in 42.3% at 12 months. Nearly half of HNC patients had sustained >5% weight loss at one year, whereas HGBCL patients were more likely to regain weight, with significantly higher rates of weight gain at 6 and 12 months (p = 0.04 and p = 0.02). At baseline, HGBCL patients showed elevated CrP and lower albumin compared to HNC (both p < 0.001). Weight loss at 6 months was significantly associated with reduced overall survival in HGBCL (p < 0.01). Both Δweight at 6 months and mGPS emerged as useful prognostic indicators. Conclusions: This study reveals distinct patterns of weight change and systemic inflammation between HNC and HGBCL patients during the first year after diagnosis. These findings highlight the need for entity-specific nutritional monitoring and tailored supportive care strategies extending into survivorship. Prospective studies integrating body composition analyses are warranted to better guide long-term management. Full article

Microalgal–bacterial consortia are the environmentally sustainable biotechnological strategy to enhance the potential of microalgae. Understanding the regulatory mechanisms that enable bacteria to adapt to culture conditions of each bioprocess is crucial to ensure a successful synergic interaction. Thus, the present study evaluated the transcriptomic response of microalgal growth-promoting bacteria (MGPB) A. brasilense separately co-cultured with both green microalgae Scenedesmus sp. and Chlorella sorokiniana during CO₂ fixation from biogas through a microarray-based approach. The transcriptome profiling revealed a total of 416 differentially expressed genes (DEGs) in A. brasilense: 228 (140 upregulated and 88 downregulated) interacting with Scenedesmus sp. and 188 (40 upregulated and 148 downregulated) associated with C. sorokiniana. These results support the modulation of signal molecules: indole-3-acetic acid (IAA), riboflavin, and biotin, during co-cultivation with both microalgae. The findings suggest that the metabolic A. brasilense adaptation was mainly favored during the mutualistic interaction with Scenedesmus sp. Finally, a valuable contribution is provided to the biotechnological potential of the microalga–Azospirillum consortium as an environmentally sustainable strategy to improve the bio-refinery capacity of these microalgae and biogas upgrading by valorizing CO₂ of these gaseous effluent. Full article

Background: Studies highlight the role of migrasomes as mediators of intercellular communication and signaling, critical in influencing tumorigenesis and progression. Yet migrasome-related genes and their potential role in colorectal cancer prognosis remain unexplored. Methods: Differentially expressed gene set A (DEG set A) was identified in the TCGA-CRC dataset, and Weighted Gene Co-expression Network Analysis (WGCNA) was performed to identify the most important modules associated with migrasome-related gene (MRG) scores. Single-cell RNA-seq dataset GSE231559 DEG set B was determined. Candidate migrasome-related genes were filtered by intersecting DGE set A, key module genes, and DEG set B. Prognostic genes were subsequently screened through regression analysis, and a risk model was developed. Patients with CRC in the TCGA cohort were stratified into high- and low-risk groups based on the optimal cutoff of the risk score. Immunotherapy response-related analyses were then performed. Finally, cell-to-cell communication analysis was carried out for key cells identified based on prognostic gene expression analysis in annotated cells. Results: The six candidate migrasome-related genes were identified through the overlap of 5158 DEG set A, 1960 key module genes, and 146 DEG set B. Further screening led to the selection of T1MP1, CXCL8, and MGP as potential prognostic biomarkers. Immune-related analysis indicated that the high-risk group exhibited a better response to immunotherapy. Notably, the prognostic genes showed elevated expression levels in monocytes and tissue stem cells, thereby designating them as key cell types. Conclusions: We conducted bioinformatic analysis of migrasome-related genes and identified significant involvement of T1MP1, CXCL8, and MGP in influencing CRC prognosis and immunotherapy response. Our research provides novel insights into the role of migrasomes in CRC biology. Full article

Background/Objectives: Post-menopausal women are at an increased risk of developing cardiovascular disease. Menaquinone-7 (MK-7) is a fat-soluble vitamin involved in coagulation and maintaining vascular health. The aim of the post hoc analysis of this one-year study is to investigate the effects of MK-7 supplementation on the vascular parameters in pre-, peri-, and post-menopausal women. Methods: In a clinical intervention trial (NCT02404519), a total of 165 women with a low vitamin K status received either 180 µg of MK-7 daily (n = 82) or a matching placebo (n = 83) for one year. Established vascular parameters were measured before and after one year of vitamin K2 supplementation. Pre-, peri-, and post-menopausal women were subdivided according to arterial stiffness, with a high b-stiffness index defined as being greater than the overall median of 9.83. Results: The post hoc analyses showed a significant decrease in desphospho-uncarboxylated matrix Gla protein (dp-ucMGP) plasma levels after MK-7 supplementation (pre/peri, p = 0.009; post, p < 0.001). MK-7 treatment significantly attenuated vascular stiffness in post-menopausal women (placebo +49.1% ± 77.4; MK-7 +9.4% ± 67.1; p = 0.035). Post-menopausal women with a high stiffness index showed significantly improved vascular markers after MK-7 treatment, e.g., a decreased blood pressure at brachialis (−3.0% ± 9.0; p = 0.007) and an increased distensibility coefficient (+13.3% ± 32.3; p = 0.040). Conclusions: Our results confirm that menopause affects vascular health status. Post-menopausal women with an increased stiffness benefit most from MK-7 supplementation, with a significantly improved blood pressure. Further research is needed to unravel the beneficial effects of MK-7 in post-menopausal women. Full article

Oyster mushrooms (Pleurotus ostreatus) are one of the most commonly grown edible mushrooms using compost, which contains high concentrations of ammonia. In this study, inoculation of the oyster mushroom culture substrate with ammonia-assimilating bacterium Enterobacter sp. B12, either before or after composting, reduced the ammonia nitrogen content, increased the total nitrogen content of the compost, and enhanced the mushroom yield. Co-cultivation with P. ostreatus mycelia on potato dextrose agar (PDA) plates containing 200 mM NH₄⁺, B12 reduced reactive oxygen species (ROS) accumulation in the mycelia and downregulated the expression of the ROS-generating enzymes NADPH oxidase A (NOXA) and the stress hormone ethylene synthase 1-aminocyclopropane-1-carboxylate oxidase (ACO). It also downregulated the expression of the ammonia-assimilating related genes in the mycelia, such as glutamate dehydrogenase (GDH), glutamate synthase (GOGAT), glutamine synthetase (GS), ammonia transporter protein (AMT), and amino acid transporter protein (AAT), while upregulating its own ammonia-assimilation genes. These findings suggest that the mechanism by which B12 promoted oyster mushroom growth was that B12 assimilated ammonia, alleviated ammonia stress, mitigated ROS accumulation in the mycelia, and supplied ammonia and amino acids to the mycelia. To our knowledge, ammonia-assimilating bacteria are a novel type of mushroom growth promoter (MGP). Full article

Background and Objectives: There is no reliable immune scoring system that can help us predict the postoperative outcomes of colorectal cancer patients with peritoneal metastases after cytoreductive surgery. In this cohort, the aims were (1) to evaluate the postoperative morbidity, mortality and surgical oncological outcomes in colorectal cancer patients with peritoneal metastasis; (2) to compare oncological and postoperative outcomes of colon cancer patients with peritoneal metastasis and rectal cancer patients with peritoneal metastasis; and (3) to assess the prognostic value of the modified Glasgow Prognostic Score (mGPS) and the CRP–albumin ratio (CAR). Materials and Methods: A prospectively maintained database of 258 patients who underwent cytoreductive surgery for peritoneal metastases of colorectal origin between 2007 and 2024 was analyzed. According to the anatomical location of the primary tumor, two different groups were created: rectum cancer patients with peritoneal metastasis (Group A) and colon cancer patients with peritoneal metastasis (Group B). All standard clinico-pathological characteristics, operative findings, morbi-mortality results, and final oncologic outcomes were compared between Groups A and B. We evaluated whether CAR and mGPS could predict postoperative morbi-mortality and overall survival in the two groups or not. Results: No significant difference was detected between Groups A and B in terms of clinical–demographic characteristics. In both groups, the preoperative mGPS and CAR values were statistically significantly higher in those who developed postoperative high-grade complications (C-D grade III/IV) (p < 0.001) and those who died perioperatively (p = 0.001 and p = 0.002). Conclusions: In multivariate Cox analysis, the CAR was found to be an independent prognostic factor for overall survival in this cohort. CAR and mGPS predicted high-grade complications and postoperative mortality in both groups. Full article

Microalgae offer distinct advantages as a nutritional source for aquaculture and as a means of wastewater bioremediation. Studying the phycosphere bacteria and understanding their complex interactions is essential to optimizing high-quality biomass growth. This study aimed to isolate, characterize, and identify bacteria from the phycosphere of marine microalgae and to determine their potential to enhance growth, metabolism, and bioremediation capabilities of Chaetoceros calcitrans in stress nutrient-poor media simulating aquaculture wastewater enriched with nitrate, nitrite, or phosphorus. Bacterial characterization included tests for auxin and siderophore production, biofilm formation, amylase activity, phosphate solubilization, mobility, and antagonism evaluation. When Alteromonas macleodii, Bacillus cereus, and Marinobacter sp. were selected and then enriched (10⁷ CFU/mL) in co-culture with C. calcitrans, growth levels significantly increased in four of six Synthetic Aquaculture Wastewater (SAW) media. Pigment levels were higher in five of six SAW media, and lipid levels were higher in SAW rich in nitrite (SAWni50) and phosphorus (SAWpho50). In addition, C. calcitrans with or without the bacterial consortium demonstrated excellent phosphorus bioremediation, achieving 67.6% average removal in SAWpho50. Nitrate and nitrite assimilation rates were approximately 10% in SAWna and SAWni50. This study marks the inaugural identification of these bacteria as microalga growth-promoting bacteria (MGPB) for enhancing growth and lipid and pigment production in C. calcitrans, and it also documents a maximum of 69.13% phosphorus removal. Full article

Since 2021, the prefectural authorities of the Attica Region in Greece have been operating a rewarding recycling program for the collection of clean recyclable waste in collaboration with the “Specialist Integrated Association of the Prefecture of Attica” (EDSNA, in Greek) and private contractors, called “THE GREEN CITY”. This program mobilizes almost 30 mobile green points (MGPs) daily, which are self-propelled trucks that collect clean recyclable materials from citizens and businesses across the Attica Region. After one year of operation, this program has shown promising results, having more than 100,000 registered citizens and having already collected over 500 tons of clean recyclable municipal solid wastes in more than 60 municipalities of Attica. However, these promising results are accompanied by some significant financial and environmental costs. This study presents two different practical improvement scenarios for THE GREEN CITY recycling program’s current situation that ensure (a) the shortening of the annual kilometers and time on the remote routes of all programs, (b) the annual fuel-cost decrease for the MGPs and (c) the annual reduction of their CO₂ emissions into the atmosphere. Afterwards, we compare these two scenarios and conclude that the “first improvement scenario with main depot decentralization” is more realistic, feasible and has a bigger total sum of positive impacts than the second one. Therefore, this study strongly suggests the implementation of the “first improvement scenario with main depot decentralization” and opens the road to future improvement scenarios for various waste-management systems or recycling programs. Full article

Recently, among European Union (EU) member states, but also globally, there have been available and successful recycling and treatment practices of Municipal Solid Wastes (MSW). Greece has currently implemented low recycling levels, 21%, of the annually produced MSW, compared to the EU regulations. In 2021 the prefectural authorities of Attica Region launched a pilot program of rewarding recycling with source Separation called “THE GREEN CITY”. This program consists of 60 mobile green points (MGPs) that serve at a unified citizen awareness and MSW collection at 7-streams network throughout the prefecture of Attica. In this study, the whole design analysis of “THE GREEN CITY” pilot recycling program contained estimations and calculations of (a) the distances of all waste collection remote itineraries (basic analysis); (b) the annual fuel cost of the MGPs for the realization of all waste collection remote itineraries (financial-based analysis); and (c) the annual carbon dioxide (CO₂) emissions into the atmosphere from the IVECO MGPs during the coverage of all waste collection remote itineraries (environmental-based analysis). Then a research synthesis of all these analyses revealed and evaluated the pilot recycling program’s real capabilities and limitations in alignment with: (a) its ultimate goal to help Greece achieve the setting target of Directive 2018/851 for at least 55% by weight recycling and reuse of the total annually generated Greek MSW by 2025 and (b) the MGPs proven ability to support environmental sustainability in densely populated prefectures such as Attica. Full article

To solve the problem of nitrogen loss and harmful gas emissions in the co-composting of cyanobacteria with other wastes and agricultural non-point source pollution in the Chaohu Lake Basin (CHLB), this study selected cyanobacteria as the main material, spent mushroom and rice hulls as excipients, and biochar (B) and Mg²⁺/PO₄³⁻ salt as an additive. The nitrogen fixation rate, maturity, toxicity, and fertilizer efficiency indexes were analyzed to explore the best rate of biochar application. Additionally, three different fertilization treatments (C0: No fertilization, CF: Chemical fertilizer, OF: Organic fertilizer) were applied to agricultural field experiments in the CHLB. The results showed that the cyanobacteria composting experiment with 10% B as additives had the lowest cumulative NH₃ emission (603.00 g) and the highest nitrogen fixation rate (61.54%). We used this compost product for maize cultivation in field experiments. The results show that OF treatment can reduce field nutrient loss, and the increase in the rate of soil TN fixation was as follows: OF (18.62%) > CF (10.34%) > C0 (−9.66%). Moreover, the TN and TK losses in runoff were 33.33% and 22.74% lower than CF in farmland runoff. The OF treatment increased the content of crude fat, crude protein, and crude starch by 4.40%, 8.34%, and 2.66% compared with the CF treatment, respectively. Overall, the N, P, and K source agronomic coefficients of cyanobacteria organic fertilizer were 1.424, 1.001, and 1.16, respectively. These results indicated that cyanobacterial organic fertilizer could replace chemical fertilizer to reduce agricultural non-point source pollution and improve maize quality. Meanwhile, the amendment of B and Mg/P salt additives could reduce air pollution and improve the quality of compost products. This study provides a theoretical basis and reference for nitrogen fixation and extension of multiple wastes co-composting field experiments. Full article

Mycoplasma genitalium causes sexually transmitted infecti.ons in men and women. Treatment failures to macrolides and fluoroquinolones have been reported worldwide. Although the mgpB typing method has often been used in M. genitalium-infected men who have sex with men (MSM), limited typing data are available for M. genitalium-infected women. In this study, we aimed to investigate the genetic relationship between M. genitalium strains and their antibiotic resistance profile in a cohort of MSM (86.2% on HIV preexposure prophylaxis [PrEP], 13.8% HIV positive) and a large cohort of women using mgpB/MG309 typing. The mgpB types were determined in 374 samples from 305 women and 65 MSM. Three MSM and one woman had two concurrent or subsequent samples. Macrolide and fluoroquinolone resistance-associated mutations were searched in the 23S rRNA as well as parC and gyrA genes. The mgpB phylogenetic construction revealed three large clusters that differed according to sexual practices and geographical origin of patients. The prevalence of macrolide and fluoroquinolone resistance was significantly higher in MSM compared with women (95.4% vs. 14.1% and 30.6% vs. 7.2%, p < 0.001, respectively). The macrolide resistance spread was polyclonal in both populations, but clonal diffusion of two dual-resistant types was observed in PrEP users in association with high antibiotic pressure and dense connectivity in this population. Full article

In this study, we used single-cell transcriptomic analysis to identify new specific biomarkers for nucleus pulposus (NP) and inner annulus fibrosis (iAF) cells, and to define cell populations within non-degenerating (nD) and degenerating (D) human intervertebral discs (IVD) of the same individual. Cluster analysis based on differential gene expression delineated 14 cell clusters. Gene expression profiles at single-cell resolution revealed the potential functional differences linked to degeneration, and among NP and iAF subpopulations. GO and KEGG analyses discovered molecular functions, biological processes, and transcription factors linked to cell type and degeneration state. We propose two lists of biomarkers, one as specific cell type, including C2orf40, MGP, MSMP, CD44, EIF1, LGALS1, RGCC, EPYC, HILPDA, ACAN, MT1F, CHI3L1, ID1, ID3 and TMED2. The second list proposes predictive IVD degeneration genes, including MT1G, SPP1, HMGA1, FN1, FBXO2, SPARC, VIM, CTGF, MGST1, TAF1D, CAPS, SPTSSB, S100A1, CHI3L2, PLA2G2A, TNRSF11B, FGFBP2, MGP, SLPI, DCN, MT-ND2, MTCYB, ADIRF, FRZB, CLEC3A, UPP1, S100A2, PRG4, COL2A1, SOD2 and MT2A. Protein and mRNA expression of MGST1, vimentin, SOD2 and SYF2 (p29) genes validated our scRNA-seq findings. Our data provide new insights into disc cells phenotypes and biomarkers of IVD degeneration that could improve diagnostic and therapeutic options. Full article

Background and Objectives: recent studies suggest an implication of immune mechanisms in atherosclerotic disease. In this paper, the interaction between inflammation, calcification, and atherosclerosis on the vessel walls of patients with chronic kidney disease (CKD) is described and evaluated. Materials and Methods: patients with stage V CKD, either on pre-dialysis (group A) or on hemodialysis (HD) for at least 2 years (group B), in whom a radiocephalic arteriovenous fistula (RCAVF) was created, were included in the study. The control group included healthy volunteers who received radial artery surgery after an accident. The expressions of inflammatory cells, myofibroblasts, and vascular calcification regulators on the vascular wall were estimated, and, moreover, morphometric analysis was performed. Results: the expressions of CD68(+) cells, matrix carboxyglutamic acid proteins (MGPs), the receptor activator of nuclear factor-kB (RANK) and RANK ligand (RANKL), and osteoprotegerin (OPG), were significantly increased in CKD patients compared to the controls p = 0.02; p = 0.006; p = 0.01; and p = 0.006, respectively. In morphometric analysis, the I/M and L/I ratios had significant differences between CKD patients and the controls 0.3534 ± 0.20 vs. 0.1520 ± 0.865, p = 0.003, and 2.1709 ± 1.568 vs. 4.9958 ± 3.2975, p = 0.03, respectively. The independent variables correlated with the degree of vascular calcification were the intensity of CD34(+), aSMA(+) cells, and OPG, R² = 0.76, p < 0.0001, and, with intima-media thickness (IMT), the severity of RANKL expression R² = 0.3, p < 0.0001. Conclusion: atherosclerosis and vascular calcification in CKD seem to be strongly regulated by an immunological and inflammatory activation on the vascular wall. Full article

The treatment of infections from the sexually transmitted pathogen Mycoplasma genitalium is hampered by the rapidly increasing resistance to the recommended first- (macrolides) and second-line antibiotics (quinolones). Thus, resistance-guided therapy (RGT) is key for its successful eradication but the efficiency of this approach can be influenced by re-infections and treatment failures. The typing of strains is helpful to distinguish between ongoing colonization, re-infection or the development of resistance. In the present study, mgpB and MG_309 types as well as mutations associated with macrolide, quinolone and tetracycline resistance of strains in M. genitalium-positive samples accumulated in the years 2019 and 2020 at a university hospital were analyzed. Fifty-eight positive first and sixteen positive follow-up samples from patients (96.6% male, 84.5% men who have sex with men, 74.1% HIV-positive) were included. Twenty-three mgpB types (seven new types), nine MG_309 types and thirty-four mgpB/MG_309 types were identified. The prevalence of mutations associated with macrolide, quinolone and tetracycline resistance was 56.9%, 10.3% and 6.8%, respectively. Despite the fact that many asymptomatic patients were not treated and tests of cure were impossible in different cases, the preliminary rate of successful eradication (93.3%) in this study is promising for the continuation of the RGT strategy. Full article