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Backgrounds: MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families. Ten probands carried also one or more additional MUTYH variants of unknown significance., Methods: Based on variant type and on the collected clinical and molecular data, these variants were reinterpreted by applying the ACMG/AMP rules. Moreover, supplementary analyses were carried out to investigate the presence of other variants and copy number variations in the coding and promoter regions of MUTYH, as well as other polyposis genes (APC, NTHL1, POLE, POLD1, MSH3, RNF43, and MCM9)., Results: We reclassified 4 out of 10 MUTYH variants as pathogenic or likely pathogenic, thus supporting the diagnosis of MAP in only four cases. Two other patients belonging to the same family showed a previously undetected deletion of the APC gene promoter. No PVs were found in the other investigated genes. However, 6 out of the 18 remaining families are still interesting MAP candidates, due to the co-presence of a class 3 MUTYH variant that could be reinterpreted in the next future., Conclusion: Several efforts are necessary to fully elucidate the genetic etiology of suspected MAP patients, especially those with the most severe polyposis/tumor phenotype. Clinical data, tumor molecular profile, family history, and polyposis inheritance mode may guide variant interpretation and address supplementary studies., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Classification of variants in the BRCA1 and BRCA2 genes has a major impact on the clinical management of subjects at high risk for breast and ovarian cancer. The identification of a pathogenic variant allows for early detection/prevention strategies in healthy carriers as well as targeted treatments in patients affected by BRCA-associated tumors. The BRCA2 c.9227G>T p.(Gly3076Val) variant recurs in families from Northeast Italy and is rarely reported in international databases. This variant substitutes the evolutionary invariant glycine 3076 with a valine in the DNA binding domain of the BRCA2 protein, thus suggesting a high probability of pathogenicity. We analysed clinical and genealogic data of carriers from 15 breast/ovarian cancer families in whom no other pathogenic variants were detected. The variant was shown to co-segregate with breast and ovarian cancer in the most informative families. Combined segregation data led to a likelihood ratio of 81,527:1 of pathogenicity vs. neutrality. We conclude that c.9227G>T is a BRCA2 pathogenic variant that recurs in Northeast Italy. It can now be safely used for the predictive testing of healthy family members to guide preventive surgery and/or early tumor detection strategies, as well as for PARP inhibitors treatments in patients with BRCA2-associated tumors.

Background: Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases., Methods: Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES. Targeted gene sequencing for the validation of WES results was performed for 48 high-risk, BRCA1/2 mutation-negative MBC cases from an Italian multicenter study of MBC. A case-control series of 433 BRCA1/2 mutation-negative MBC and female breast cancer (FBC) cases and 849 male and female controls was included in the study., Results: WES in the family identified the partner and localizer of BRCA2 (PALB2) c.419delA truncating mutation carried by the proband, her father, and her paternal uncle (all affected with BC) and the N-acetyltransferase 1 (NAT1) c.97C>T nonsense mutation carried by the proband's maternal aunt. Targeted PALB2 sequencing detected the c.1984A>T nonsense mutation in 1 of the 48 BRCA1/2 mutation-negative MBC cases. NAT1 c.97C>T was not found in the case-control series., Conclusions: These results add strength to the evidence showing that PALB2 is involved in BC risk for both sexes and indicate that consideration should be given to clinical testing of PALB2 for BRCA1/2 mutation-negative families with multiple MBC and FBC cases. Cancer 2017;123:210-218. © 2016 American Cancer Society., (© 2016 American Cancer Society.)

The production of rice husks, abundant agro-waste rich in biopolymers and minerals, already at a rate of 120 million tons/year, is expected to further increase to meet the demand of a growing world population. It is the most common use as fuel pollutes air, water, and soil. However, there is still a significant lack of methods for fractionation of all of its compounds. We are presenting here a biorefinery process based on successive extraction of extractives (xylose, lignin, cellulose, and silica) from rice husk through pre-extraction, hydrolysis, organosolv pulping, and demineralization while assessing the effect of these processes on the extracted biopolymers. The optimized conditions for pulping of hydrolyzed rice husks are 3% of FeCl3·6H2O as catalyst, a biomass/solvent ratio of 1:10 (m/v), and a 50% ethanol:water as cooking liquor treated in a reactor at 200 °C for 60 min. The conditions for demineralization of the pulp resulting from organosolv pulping are 10% of Na2CO3 as base, a biomass/solvent ratio of 1:15 (m/v), and treated in a reactor at 115 °C for 30 min. The properties of the lignin and cellulose recovered from hydrolyzed rice husk were almost identical to those of untreated rice husk. We successfully obtained lignin with a recovery of 47% and a purity of 94%, cellulose recovered after silica removal with only 1% ash and a purity of 82%, while also recovering silica. The recovery of lignin and cellulose, along with silica, offers an opportunity for further valorization while also proposing an alternative solution to rice husk disposal and implicated pollution. [ABSTRACT FROM AUTHOR]

This review explores the potential of biopolymers as sustainable alternatives to conventional plastics in food packaging. Biopolymers derived from plant or animal sources are crucial in extending food shelf life, minimizing degradation, and protecting against oxidative and microbial agents. Their physical and chemical properties, influenced by the raw materials used, determine their suitability for specific applications. Biopolymers have been successfully used in fruits, vegetables, meats, and dairy products, offering antimicrobial and antioxidant benefits. Consequently, they represent a functional and eco-friendly solution for the packaging industry, contributing to sustainability while maintaining product quality. [ABSTRACT FROM AUTHOR]

MUTYH variants are differently distributed in geographical areas of the world. In MUTYH-associated polyposis (MAP) patients from North-Eastern Italy, c.933+3A>C (IVS10+3A>C), a transversion causing an aberrant splicing process, accounts for nearly 1/5 of all mutations. The aim of this study was to verify whether its high frequency in North-Eastern Italy is due to a founder effect and to clarify its impact on MUTYH transcripts and protein. Haplotype analysis and age estimate performed on members of eleven Italian MAP families and cancer-free controls provided evidence that c.933+3A>C is a founder mutation originated about 83 generations ago. In addition, the Italian haplotype associated with the c.933+3A>C was also found in German families segregating the same mutation, indicating it had a common origin in Western Europe. Altogether c.933+3A>C and the two common Caucasian mutations p.Tyr179Cys and p.Gly396Asp represent about 60% of MUTYH alterations in MAP patients from North-Eastern Italy, suggesting the opportunity to perform targeted molecular screening for these variants in the diagnostic setting. Expression analyses performed on lymphoblastoid cell lines supported the notion that MUTYH c.933+3A>C alters splicing causing the synthesis of a non functional protein. However, some primary transcripts escape aberrant splicing, producing traces of full-length transcript and wild-type protein in a homozygote; this is in agreement with clinical findings that suggest a relatively mild phenotypic effect for this mutation. Overall, these data, that demonstrate a founder effect and further elucidate the splicing alterations caused by the MUTYH c.933+3A>C mutation, have important implications for genetic counseling and molecular diagnosis of MAP., (Copyright © 2012 UICC.)

In this study, the fabrication of magnetic hemicellulosic composite microspheres and the adsorption of copper ions are explored. The microspheres were prepared by the micro-emulsion technique, using Fe3O4 nanoparticles and hemicellulose extracted from wheat straw with the ionic liquid B[mim]Cl as a solvent. Fe3O4 nanoparticles, synthesized through coprecipitation, were evenly encapsulated within the hemicellulosic microspheres. The Fe3O4 nanoparticles measured 10–15 nm in size, while the microspheres had an average diameter of about 20 μm and displayed a saturation magnetization of 35.95 emu/g. The optimal conditions for copper adsorption by the microspheres were found to be a pH of 5.0, a temperature of 323 K, and an initial copper ion concentration of 80 mg/L, resulting in an adsorption capacity of 85.65 mg/g after 24 h. The adsorption kinetics followed a pseudo-second-order model, and the Langmuir isotherm suggested a monomolecular layer adsorption mechanism, with a theoretical maximum capacity of 149.25 mg/g. In summary, the magnetic hemicellulosic microspheres exhibited considerable adsorption potential and favorable recycling capabilities for copper ions. [ABSTRACT FROM AUTHOR]

This paper describes the effect of two different fillers derived from giant reed (Arundo donax L.), namely fibers and shredded aerial parts of the plant, on the thermal properties of polyethylene-based composites, as the analysis of dimensional stability of lignocellulose-based composites, and its relationship with their thermal diffusivity, has not yet been assessed in the literature. It has been found that the introduction of such materials resulted in a significant reduction of the coefficient of thermal expansion, particularly more important in the case of fibers, due to their higher aspect ratio; in particular, this coefficient is reduced to less than half for fibrous composites (from 1.6·10− 4 K− 1 to 6.1·10− 5 K− 1 or 3.5·10− 5 K− 1 for 20 and 40% loadings). This parameter also influences the thermal diffusivity of the final parts; the diffusivity of composites increases with the ratio of lignocellulosic filler used, particularly when using fibers, due to a better orientation of these fibers than the shredded material, which does not exhibit a fibrous shape. Composites with 20% share of the filler exhibited a thermal diffusivity increased by about 15% compared to neat polyethylene, while 40% loadings resulted in a 25% and 60% increase for ground and fibrous materials, respectively. These results provide additional features to lignocellulose-composites characterization, providing properties not usually mentioned in the literature to expand the knowledge about such composite materials beyond mechanical properties, providing a broader range of properties to offer a wider application area of such composites. Statement of Novelty Arundo donax L. is of great interest to biorefineries due to its fast growth and resistance to adverse environmental conditions. Most research on this plant species focuses on obtaining energy products or valuable chemicals, while very few are related to composite production, particularly on thermoplastic materials. The work found in the literature so far does not provide insights into the relationships between the types of filler (and their aspect ratio) and their thermal properties. Therefore, this work expands the knowledge on the thermal behavior of lignocellulose-polymer composites, supplementing the research, usually focused only on mechanical properties, in their characterization by correlative analysis of thermal influenced dimensional change with structure and thermal diffusivity. Determining the coefficient of thermal expansion (CTE) is a relevant parameter to assess the possibilities of using a material at high or low temperatures and evaluate the dimensional stability of a product during its service lifetime. On the other hand, thermal diffusivity brings together the capacity of a material to store thermal energy and distribute it throughout the material; that is, it relates heat capacity and thermal conductivity, which are also essential in using materials in market applications. Therefore, the work not only provides the results of thermal diffusivity and CTE of thermoplastic-reed composites but also correlates both parameters as a way to widen the range of application of plant-based composites in areas where dimensional stability (i.e., low thermal expansion) is required. [ABSTRACT FROM AUTHOR]

Rice straw is a relevant and potential feedstock for bioethanol production due to its abundance and availability around the globe. In this study, a fractional factorial design (FFD 25–1) was applied to simultaneously evaluate the influence of only alkaline and acid-alkaline pretreatment conditions in glucose release, considering the glucose release after 12 and 24 h of enzymatic hydrolysis as responses and predicting alternatives for the fractionation of rice straw components. Hydrolysis yields (HY) higher than 90% were achieved using low enzyme loads (8 FPU/g substrate) after only 24 h of hydrolysis under optimized pretreatment conditions. Simultaneous DOE optimization showed that the acid step is optional to achieve higher HY but can contribute to a more holistic use of the hemicellulose fraction. Also, it significantly increased the hydrolysis efficiency compared to untreated rice straw (HY = 18%). Enzymatic hydrolysis with a different type of enzymatic cocktail in the optimized conditions using higher solid contents resulted in high cellulose conversion (up to 85%), showing the robustness of the DOE optimization and its applicability as a starting point for optimizations using other types of enzymes. Chemical and morphological analyses were also carried out to understand the effect of the treatments, aiming to achieve pretreatment and hydrolysis processes more effective for lignocellulosic biorefineries. [ABSTRACT FROM AUTHOR]

Background: Plastics are the most flexible products developed with a wide range of applications. They have been incorporated into almost every aspect of daily life due to their strength and low weight. However, widespread use and inadequate waste management have resulted in the accumulation of tiny plastic particles throughout the environment. Main text: Microplastics are found in oceans, rivers, sediments, sewers, soil, and agricultural products, even in table salts. Human beings are affected by microplastics through food ingestion and inhalation. Incorporated microplastics may accrue within the body and affect gastrointestinal, immune, endocrine, brain, and respiratory systems. It also interferes with the functions of major organs and causes chromosomal abnormalities. Conclusion: Addressing the issue of micro and nanoplastics requires interdisciplinary research, sustainable solutions, and improved waste management systems. The main focus of this review is to cover the harmful effects and impact of microplastics on human health and stress the need for combating strategies. [ABSTRACT FROM AUTHOR]

Purpose: Composting process can be accelerated by seeding microbial consortium into compost of plant residues and livestock manure mixture. The consortium could also be sourced from decomposing sawdust due to extensive microbial activity. This study investigated the effect of decomposing sawdust as an inoculant on the microbial and physicochemical properties of sawdust-chicken manure compost. Method: Decomposing sawdust collected at a depth of 0.6-1.2 m and a temperature between 40-48 °C was seeded into a sawdust-chicken manure mixture. The composting formulations used were, fresh sawdust + chicken manure (FSCM), fresh sawdust + decomposing sawdust (FSDS), and fresh sawdust + chicken manure + decomposing sawdust (FSCMDS). The composting process involved the use of pyramid piles (1.98 m × 1.89 m × 0.68 m). Physicochemical and microbial enzyme profiling, Scanning electron microscopy (SEM), Fourier transform infrared (FTIR), and plant bioassays were carried out. Results: The compost formulations without inoculant exhibited higher microbial and enzyme activities throughout the composting process (lasting 37 days). High temperatures (45-59 °C) eliminates coliform bacteria after day 10, while thermophilic bacteria increased, with mesophilic bacteria dominating from the 25th day until maturation. The C/N ratio decreased to 12.62 and 15.04 in FSCM and FSCMDS, respectively, with reduced lignocellulosic composition and increased nutrients. The SEM analysis indicated disintegration of the feedstock while the FTIR spectra showed improvement in the aromatic content. Conclusion: Overall, the FSCM formulation had the greatest effect on compost qualities and Phaseolus vulgaris development. FSDS did not promote the composting process. Thus, composting sawdust and chicken manure alone was sufficient to achieve a desirable C/N ratio, nutrient level, efficient degradation, microbial population, compost sanitization and growth of Phaseolus vulgaris. [ABSTRACT FROM AUTHOR]

Aim: To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer (PC)., Methods: Genomic DNA of 61 pancreatic cancer patients and 105 healthy controls (HC) were analyzed. UGT1A7 genotyping was determined by PCR-RFLP analysis. Specific PCR and sequencing were used to analyze genetic variants of UGT1A9, ARP, SPINK1 and CFTR genes., Results: Four different alleles (*1: WT; *2: N129K and R131K; *3: N129K, R131K, and W208R; and *4: W208R) in UGT1A7 and three different alleles (*1: WT; *4: Y242X; and *5: D256N) in UGT1A9 were detected. All UGT1A polymorphisms were observed at similar frequency in PC patients and HC. Seven different alleles in ARP were found in PC patients and HC at similar frequency. The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence (4.1%) not significantly different from that observed (2.0%) in HC. The only CFTR DeltaF508 mutation was recognized in three PC patients with a prevalence (4.9%) similar to HC., Conclusion: UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.

Purpose: Many studies have evaluated the role of high levels of microsatellite instability (MSI) as a prognostic marker and predictor of the response to chemotherapy in colorectal cancer (CRC); however, the results are not conclusive. The aim of this study was to analyze the prognostic significance of high levels of MSI (MSI-H) in CRC patients in relation to fluorouracil-based chemotherapy., Experimental Design: In three different institutions, 1,263 patients with CRC were tested for the presence of MSI, and CRC-specific survival was then analyzed in relation to MSI status, chemotherapy, and other clinical and pathologic variables., Results: Two hundred and fifty-six tumors were MSI-H (20.3%): these were more frequently at a less advanced stage, right-sided, poorly differentiated, with mucinous phenotype, and expansive growth pattern than microsatellite stable carcinomas. Univariate and multivariate analyses of 5-year-specific survival revealed stage, tumor location, grade of differentiation, MSI, gender, and age as significant prognostic factors. The prognostic advantage of MSI tumors was particularly evident in stages II and III in which chemotherapy did not significantly affect the survival of MSI-H patients. Finally, we analyzed survival in MSI-H patients in relation to the presence of mismatch repair gene mutations. MSI-H patients with hereditary non-polyposis colorectal cancer showed a better prognosis as compared with sporadic MSI-H; however, in multivariate analysis, this difference disappeared., Conclusions: The type of genomic instability could influence the prognosis of CRC, in particular in stages II and III. Fluorouracil-based chemotherapy does not seem to improve survival among MSI-H patients. The survival benefit for patients with hereditary non-polyposis colorectal cancer is mainly determined by younger age and less advanced stage as compared with sporadic MSI-H counterpart.

A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, MSH2, MLH1, MSH6, and PMS2, identified 48 genomic rearrangements causative of this inherited predisposition to colorectal cancer in 68 unrelated kindreds. Twenty-nine of the 48 rearrangements were found in MSH2, 13 in MLH1, 2 in MSH6, and 4 in PMS2. The vast majority were deletions, although one previously described large inversion, an intronic insertion, and a more complex rearrangement also were found. Twenty-four deletion breakpoints have been identified and sequenced in order to determine the underlying recombination mechanisms. Most fall within repetitive sequences, mainly Alu repeats, in agreement with the differential distribution of deletions between the MSH2 and MLH1 genes: the higher number and density of Alu repeats in MSH2 corresponded with a higher incidence of genomic rearrangement at this disease locus when compared with other MMR genes. Long interspersed nuclear element (LINE) repeats, relatively abundant in, for example, MLH1, did not seem to contribute to the genesis of the deletions, presumably because of their older evolutionary age and divergence among individual repeat units when compared with short interspersed nuclear element (SINE) repeats, including Alu repeats. Moreover, Southern blot analysis of the introns and the genomic regions flanking the MMR genes allowed us to detect 6 novel genomic rearrangements that left the coding region of the disease-causing gene intact. These rearrangements comprised 4 deletions upstream of the coding region of MSH2 (3 cases) and MSH6 (1 case), a 2-kb insertion in intron 7 of PMS2, and a small (459-bp) deletion in intron 13 of MLH1. The characterization of these genomic rearrangements underlines the importance of genomic deletions in the etiology of HNPCC and will facilitate the development of PCR-based tests for their detection in diagnostic laboratories.

Background: Gemcitabine has been recently recognized as standard treatment in advanced pancreatic cancer. To potentiate its single-agent activity we conducted a phase I-II study with the primary objective of establishing the maximum tolererated dose (MTD) of gemcitabine and continuous infusion 5-FU in patients with locally advanced or metastatic pancreatic cancer., Patients and Methods: Fifteen patients received a fired dose of 5-FU 200 mg/mq protracted infusion for six months. Gemcitabine was administered weekly for three out of four weeks for six cycles at escalating doses of 800 mg/mq to 1100 mg/mq., Results: MTD was established at 1000 mg/mq of gem citabine. Of the 11 evaluable patients, 7 patients had stable disease, 1 had partial response and 3 had progressive disease. Of the 14 patients evaluable at follow-up, median time to progression was 5 months. Median survival was 10 months., Conclusion: This study confirms the good tolerability of the combination, of gemcitabine with 5-FU.

A new easy protocol to functionalize the middle layer of commercial surgical face masks (FMs) with Zn and Cu oxides is proposed in order to obtain antibacterial personal protective equipment. Zinc and copper oxides were synthesized embedded in a polydopamine (PDA) shell as potential antibacterial agents; they were analyzed by XRD and TEM, revealing, in all the cases, the formation of metal oxide nanoparticles (NPs). PDA is a natural polymer appreciated for its simple and rapid synthesis, biocompatibility, and high functionalization; it is used in this work as an organic matrix that, in addition to stabilizing NPs, also acts as a diluent in the functionalization step, decreasing the metal loading on the polypropylene (PP) surface. The functionalized middle layers of the FMs were characterized by SEM, XRD, FTIR, and TXRF and tested in their bacterial-growth-inhibiting effect against Klebsiella pneumoniae and Staphylococcus aureus. Among all functionalizing agents, Cu2O-doped-ZnO NPs enclosed in PDA shell, prepared by an ultrasound-assisted method, showed the best antibacterial effect, even at low metal loading, without changing the hydrophobicity of the FM. This approach offers a sustainable solution by prolonging FM lifespan and reducing material waste. [ABSTRACT FROM AUTHOR]

This study investigates the effectiveness of hydrothermal and alkaline pretreatment methods in enhancing the concentration of fermentable sugars derived from rice husk waste. After the pretreatments, enzymatic hydrolysis and fermentation processes were executed to evaluate the ethanol production from each pretreatment. Rice husk powder measuring ≤250 µm was used. For the alkaline pretreatment, sodium hydroxide (NaOH) was used at concentrations ranging from 0.5, 1 to 1.5% w/v. The efficacy of the hydrothermal pretreatment method was evaluated after 15, 30 and 45 min at 120 °C. The enzymatic hydrolysis process was performed over 144 h at 50 °C, pH 4.8 with an enzyme loading of 30 FPU (filter paper units). Fermentation was carried out at 37 °C using a strain of Saccharomyces cerevisiae Hansen 1883 (NCYC 366). Results indicated that the optimal conditions for alkaline pretreatment were observed at a 1.5% NaOH, while the best hydrothermal procedure was achieved at 120 °C and 45 min. The impact of these pretreatments was assessed based on the efficiency of enzymatic hydrolysis. The alkaline pretreatment resulted in 81.70% conversion of cellulose to glucose and 96.30% conversion of hemicellulose to xylose. In contrast, the hydrothermal pretreatment achieved 93% cellulose-to-glucose conversion and 83.35% hemicellulose-to-xylose conversion. The ethanol production registered ranged from 13 to 13.23 g·L−1, corresponding to a conversion factor of 0.43 for ethanol from fermentable sugars. [ABSTRACT FROM AUTHOR]

Rice husk is a valuable biomass that contains large amounts of amorphous silica. This study aims to present a simple combined thermal and chemical method of silica extraction from Iranian rice husk and to investigate the effect of operating conditions on the morphology of the obtained silica. The work also studied the effects of the extracted silica loading in two standard adhesion systems in the tire formulations, namely, rubber adhesion to resorcinol-formaldehyde-latex (RFL) coated polyester cords and rubber adhesion to brass-plated steel cords. The obtained amorphous silica showed different surface area in the range of 73 to 341 m2/g, which presented different rubber-cord adhesion values in rubber formulations. It was found that the pH of the precipitation step is the controlling factor of the silica surface area, which itself has a significant effect on the rubber-cord adhesion behavior. The decarbonization temperature of 700 ± 100 °C and the precipitation pH of 6 are favorable operating conditions for the production of amorphous silica, which is suitable for rubber-to-cord adhesion systems. [ABSTRACT FROM AUTHOR]

Polypropylene (PP) disposable face masks (DFMs) are essential for limiting airborne infectious diseases. This study examines the behavior of DFMs under three scenarios: (i) exposure to the natural environment, (ii) simulated high-energy aquatic environments through an abrasion test, and (iii) incorporation into cement-based mortars. In the natural weathering experiment, after 117 days, the DFMs exhibited photodegradation, resulting in chemical alterations in carbonyl and hydroxyl groups. This degradation led to the breakdown of the polymer and the release of microplastics and nanoplastics. Controlled abrasion tests, conducted in a Denver ball with water, sand, and ceramic balls for 2 h, confirmed that water is a critical factor for fiber release from DFMs. These tests resulted in the release of 0.26 g of PP fibers from 20 DFMs (weighing 62 g in total) with a diameter of 20 µm. Weathering and abrasion tests indicated rapid release and degradation of microplastics and nanoplastics, underscoring the importance of pursuing actions like reuse. Ecotoxicological tests revealed that leachates from the DFM-incorporated mortars showed no adverse effects on Daphnia magna or Selenastrum capricornutum, unlike the reference mortar, which caused substantial toxicity to Daphnia magna. Incorporating PP fibers from DFMs into cement-based mortars showed promising potential, as indicated by favorable ecotoxicity and chemical leaching test results., Competing Interests: Declarations. Ethics approval: The manuscript does not contain any studies with human participants or animals performed by any of the authors. Consent to participate: Not applicable. Consent for publication: All authors give their consent to publish this manuscript. Competing interests: The authors declare no competing interests., (© 2025. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Colorectal cancer exhibits a notable prevalence and propensity for metastasis, but the current therapeutic interventions for metastatic colorectal cancer have yielded suboptimal results. ICIs can decrease tumor development by preventing the tumor’s immune evasion, presenting cancer patients with a new treatment alternative. The increased use of immune checkpoint inhibitors (ICIs) in CRC has brought several issues. In particular, ICIs have demonstrated significant clinical effectiveness in patients with MSI-H CRC, whereas their efficacy is limited in MSS. Acquired resistance can still occur in patients with a positive response to ICIs. This paper describes the efficacy of ICIs currently in the clinical treatment of CRC, discusses the mechanisms by which acquired resistance occurs, primarily related to loss and impaired presentation of tumor antigens, reduced response of IFN-l and cytokine or metabolic dysregulation, and summarizes the incidence of adverse effects. We posit that the future of ICIs hinges upon the advancement of precise prediction biomarkers and the implementation of combination therapies. This study aims to elucidate the constraints associated with ICIs in CRC and foster targeted problem-solving approaches, thereby enhancing the potential benefits for more patients. [ABSTRACT FROM AUTHOR]

Simple Summary: Colorectal cancer (CRC) has become one of the leading causes of cancer-related morbidity and mortality worldwide. Immune checkpoint inhibitors (ICIs) and adoptive cell therapy (ACT) have been recently added to the clinical armamentarium of stage II/III diseases. Moreover, the improvement of a patient's telomere status may have a synergistic effect along with ICIs/ACT. This can be achieved either via lifestyle modifications with increased physical activity or with new promising treatments such as those acting on telomerase. Therefore, this review aims to comprehensively summarize the current data on immunotherapy in order to facilitate clinicians' familiarity with this relatively new therapeutic approach. Cancer of the colon and rectum (CRC) has been identified among the three most prevalent types of cancer and cancer-related deaths for both sexes. Even though significant progress in surgical and chemotherapeutic techniques has markedly improved disease-free and overall survival rates in contrast to those three decades ago, recent years have seen a stagnation in these improvements. This underscores the need for new therapies aiming to augment patient outcomes. A number of emerging strategies, such as immune checkpoint inhibitors (ICIs) and adoptive cell therapy (ACT), have exhibited promising outcomes not only in preclinical but also in clinical settings. Additionally, a thorough appreciation of the underlying biology has expanded the scope of research into potential therapeutic interventions. For instance, the pivotal role of altered telomere length in early CRC carcinogenesis, leading to chromosomal instability and telomere dysfunction, presents a promising avenue for future treatments. Thus, this review explores the advancements in CRC immunotherapy and telomere-targeted therapies, examining potential synergies and how these novel treatment modalities intersect to potentially enhance each other's efficacy, paving the way for promising future therapeutic advancements. [ABSTRACT FROM AUTHOR]

Rice husk (RH) is one of the inevitable byproduct of rice production. It has been generated with an enormous amount every year. Biorefinery concept-assisted transformation of rice husk into high-value materials received significant attention. Thus, in this present study, we have developed an integrated biorefinery approach for converting rice husk into different micro/nanostructured materials, including carbon microspheres (CMs), lignin/SiO2 nanohybrids (LSNHs), and cellulose nanostructures (CNs) simultaneously. The rice husk was treated with dilute hydrochloric acid at 120 °C under 15 lbs pressure. The dilute acid treatment disintegrates the RH structure and releases the hemicellulose. The obtained liquid hemicellulose fraction was subjected to hydrothermal carbonization at 180 °C for 24 h. After hydrothermal treatment, the obtained solid fraction was subjected to alkali treatment. Lignin/SiO2 and cellulose were extracted from liquid and solid fractions after alkali treatment, respectively. The obtained cellulose was transformed into CNs using an acid hydrolysis process. The TEM images of the RH-derived carbon material showed spherical aggregates in shape with 500–1000 nm diameter. The LSNHs have 20–50 nm silica nanoparticles dispersed on the lignin matrix. The CNs TEM image displays fibrillated structure with 600–1000 nm in length and 25–40 nm width. The RH-derived materials reduced cell viability slightly and altered the cellular and nuclear morphology in FaDu cells. Our study results indicate that fabricated materials can be applicable for various biomedical applications. [ABSTRACT FROM AUTHOR]

The immunohistochemical assessment of mismatch repair (MMR) proteins represents a pivotal screening tool for identifying Lynch syndrome (LS)-related cancers, as the loss of their expression often indicates MMR dysfunction associated with genetic or epigenetic alterations. Frequently, LS-related colorectal cancers present germline pathogenic variants in the MLH1 or MSH2 genes, which result in the simultaneous immunohistochemical loss of MLH1 and PMS2 or MSH2 and MSH6 proteins expression, respectively. Less commonly observed is the single involvement of the MSH6 or PMS2 proteins expression, indicative of the presence of germline pathogenic variants in the corresponding genes. Extremely rarely reported are the null immunohistochemistry phenotypes represented by the complete loss of expression of all MMR proteins. The molecular mechanisms contributing to the raising of this latter uncommon immunohistochemical phenotype are derived from the combination of pathogenic germline variants in MMR genes with the somatic hypermethylation of the MLH1 gene promoter. This study focuses on elucidating the molecular cascade leading to the development of the null immunohistochemical phenotype, providing valuable insights into understanding the sequential molecular events driving the LS-associated tumorigenesis, which may have pivotal implications in the clinical management of patients with LS-related cancers. [ABSTRACT FROM AUTHOR]

The paper and pulp industry produces lignin as a byproduct, which could be a bio‐based reinforcing filler for rubber. Carboxylated nitrile rubber (XNBR) contains carboxyl groups that form ionic bonds with zinc oxide, potentially increasing compatibility with lignin, compared to usual nonpolar rubbers. This study employed the traditional mixing method, two‐roll mill, to incorporate hardwood Kraft lignin without chemical or physical modification as a reinforcing filler in commercial XNBR. A mixture design of experiments was used to explore the effect on rubber/lignin interaction of the carboxyl group content (from 1% to 7% in blends of XNBR) and the amount of lignin (from 0 to 40 phr). Adding 40 phr of lignin increased stress at 100% in XNBR 7% from 1.7 to 6.3 MPa. In XNBR 1%, the increase was from 1.2 to 1.9 MPa. Lignin showed better interaction and dispersion with XNBR 7%, determined from response surface of G′ at high deformations and SEM, respectively. Loss of thermal transition in DMA indicates interaction through ionic groups. These results show that the presence of carboxyl groups enhances the rubber/lignin interaction. This research open possibilities of compatibilization of lignin, offering guidance for future studies and technologies involving lignin in technical applications. Highlights: Lignin dispersion increased as the carboxyl group content increased to 7% (w/w).Stress at 100% elongation increased 370% with 40 phr of lignin and 7% carboxyl.Rubber/lignin interaction as per G′ increased with carboxyl groups.Loss of thermal transition suggests lignin/carboxy/zinc oxide interaction.Lignin can be used as a reinforcing filler in nitrile carboxylated rubber. [ABSTRACT FROM AUTHOR]

Biowaste raw materials were used for biochar preparation through pyrolysis at 850 °C under a limited oxygen atmosphere. Raw materials and the corresponding biochar samples were characterized by XRD, FTIR, SEM, TGA, N2-sorption, pH-equilibrium, and ash content measurements. These samples were evaluated as sustainable sorbents for use in methylene blue (MB) removal from artificial fresh water. All biochar samples exhibited high specific surface areas (367–870 m2·g−1), low crystallinity, and low population of functional groups (C–O–C, –COOH, –N–O, –N–H, and –OH) on their surfaces. They were mainly micro-porous materials with a significant fraction of pores in the meso-porous range. The specific surface area of the latter pores proved very important for the physical adsorption of MB from aqueous solution. Although the raw materials exhibited low MB sorption capacity, ranging from 29 to 54 mg·g−1, the corresponding biochar samples exhibited important MB sorption efficiency ranging from 58 to 370 mg·g−1. Among the biochar samples studied, those produced from coffee residues proved most promising for MB removal from water solution (sorption capacity: 280–370 mg·g−1), addressing the United Nations Sustainability Development Goal (SDG) 6: Clean Water and Sanitation by improving the index related to anthropogenic wastewater that has received treatment. [ABSTRACT FROM AUTHOR]

The massive availability of biomass generated by the common giant reed (Arundo donax L.) motivates the search for its possible industrial use for the generation of high added-value products through implementing a biorefinery approach. The literature demonstrates the potential of common cane to obtain different high-value compounds, such as levulinic acid, oligosaccharides, fermentable sugars, highly digestible fiber for animal feed, polyphenols, and natural fibers for composite materials, among others. The data shows the upward trend in Europe toward the generation of new green industries, grouped under the biorefinery concept. Therefore, this review summarizes the current knowledge on the use of Arundo to produce materials, fibers, and chemicals. Major environmental concerns related to this plant are also reviewed. Special attention has been paid to the potential use of Arundo to produce chemicals using green chemistry approaches, as a way to contribute to and advance the achievement of Sustainable Development Goals. Recommendations for future research are also outlined. [ABSTRACT FROM AUTHOR]

Cellulose nanocrystals (CNCs) are cellulose-derived nanomaterials that can be easily obtained, e.g., from vegetable waste produced by circular economies. They show promising antimicrobial activity and an absence of side effects and toxicity. This study investigated the ability of CNCs to reduce microbial adherence and biofilm formation using in vitro microbiological models reproducing the oral environment. Microbial adherence by microbial strains of oral interest, Streptococcus mutans and Candida albicans, was evaluated on the surfaces of salivary pellicle-coated enamel disks in the presence of different aqueous solutions of CNCs. The anti-biofilm activity of the same CNC solutions was tested against S. mutans and an oral microcosm model based on mixed plaque inoculum using a continuous-flow bioreactor. Results showed the excellent anti-adherent activity of the CNCs against the tested strains from the lowest concentration tested (0.032 wt. %, p < 0.001). Such activity was significantly higher against S. mutans than against C. albicans (p < 0.01), suggesting a selective anti-adherent activity against pathogenic strains. At the same time, there was a minimal, albeit significant, anti-biofilm activity (0.5 and 4 wt. % CNC solution for S. mutans and oral microcosm, respectively, p = 0.01). This makes CNCs particularly interesting as anticaries agents, encouraging their use in the oral field. [ABSTRACT FROM AUTHOR]

The aim is to treat nature in such a way that usage of natural resources has little to zero hazards to our environment. There is a need to protect the earth and its ecology from approaching disasters brought on by anthropogenic activity, particularly the combustion of fossil fuels for energy. The net-zero emission shall be achieved worldwide by embracing sustainable bio-energy resources. Under this domain, the invention of bio-ethanol also known as 2G-ethanol from crop residue (lignocellulosic biomass) took place and is contributing toward rural development and energy independence. Similarly, researchers have modified the conventional petroleum-based bitumen by incorporating various types of lignin, including wood lignin, kraft lignin, soda lignin, lignosulfonates, and lignin-derived from biofuel production. This review encompasses the growth in biofuel production and advantages stemming from bitumen modified using lignin obtained as a byproduct from bio-fuel industries. The study also explores potential approaches for producing a direct alternative bio-binder using lignin. However, there remains a necessity for dedicated research and development to optimize the production methods of bio-binders. Using bio-bitumen or bio-binder in constructing bituminous layers shall contribute to reducing the dependency on fossil fuels, lowering the carbon footprint, improving the performance, and valorizing the biowaste. This review comprehensively outlines the challenges in the production of bio-binder from lignin. Also, this shall serve as a starting point for further research projects by highlighting the potential of lignin as a source for developing a direct alternative bio-binder in pavement engineering. [ABSTRACT FROM AUTHOR]

Simple Summary: The role of gender in oncology is an issue that is starting to be recognized as being of extreme importance in the last few years. While breast cancer is commonly perceived as a female-only disease, it does also occur in men, although rarely, thus opening relevant gender issues. Breast cancer in men is much less studied, with most knowledge coming from research on female breast cancer; however, several crucial differences have begun to be discovered between male and female patients. For example, the gender-specific impact and magnitude of risks conferred by breast cancer genetic risk factors are emerging, and they should be taken into consideration for a proper personalized clinical management. Overall, addressing all the challenges and the open issues regarding breast cancer genetic predisposition, including gender, will have an important clinical impact on the management of patients of both sexes. Among neoplastic diseases, breast cancer (BC) is one of the most influenced by gender. Despite common misconceptions associating BC as a women-only disease, BC can also occur in men. Additionally, transgender individuals may also experience BC. Genetic risk factors play a relevant role in BC predisposition, with important implications in precision prevention and treatment. The genetic architecture of BC susceptibility is similar in women and men, with high-, moderate-, and low-penetrance risk variants; however, some sex-specific features have emerged. Inherited high-penetrance pathogenic variants (PVs) in BRCA1 and BRCA2 genes are the strongest BC genetic risk factor. BRCA1 and BRCA2 PVs are more commonly associated with increased risk of female and male BC, respectively. Notably, BRCA-associated BCs are characterized by sex-specific pathologic features. Recently, next-generation sequencing technologies have helped to provide more insights on the role of moderate-penetrance BC risk variants, particularly in PALB2, CHEK2, and ATM genes, while international collaborative genome-wide association studies have contributed evidence on common low-penetrance BC risk variants, on their combined effect in polygenic models, and on their role as risk modulators in BRCA1/2 PV carriers. Overall, all these studies suggested that the genetic basis of male BC, although similar, may differ from female BC. Evaluating the genetic component of male BC as a distinct entity from female BC is the first step to improve both personalized risk assessment and therapeutic choices of patients of both sexes in order to reach gender equality in BC care. In this review, we summarize the latest research in the field of BC genetic predisposition with a particular focus on similarities and differences in male and female BC, and we also discuss the implications, challenges, and open issues that surround the establishment of a gender-oriented clinical management for BC. [ABSTRACT FROM AUTHOR]

The global cannabis (Cannabis sativa) market was 17.7 billion in 2019 and is expected to reach up to 40.6 billion by 2024. Canada is the 2nd nation to legalize cannabis with a massive sale of $246.9 million in the year 2021. Waste cannabis biomass is managed using disposal strategies (i.e., incineration, aerobic/anaerobic digestion, composting, and shredding) that are not good enough for long-term environmental sustainability. On the other hand, greenhouse gas emissions and the rising demand for petroleum-based fuels pose a severe threat to the environment and the circular economy. Cannabis biomass can be used as a feedstock to produce various biofuels and biochemicals. Various research groups have reported production of ethanol 9.2–20.2 g/L, hydrogen 13.5 mmol/L, lipids 53.3%, biogas 12%, and biochar 34.6% from cannabis biomass. This review summarizes its legal and market status (production and consumption), the recent advancements in the lignocellulosic biomass (LCB) pre-treatment (deep eutectic solvents (DES), and ionic liquids (ILs) known as "green solvents") followed by enzymatic hydrolysis using glycosyl hydrolases (GHs) for the efficient conversion efficiency of pre-treated biomass. Recent advances in the bioconversion of hemp into oleochemicals, their challenges, and future perspectives are outlined. A comprehensive insight is provided on the trends and developments of metabolic engineering strategies to improve product yield. The thermochemical processing of disposed-off hemp lignin into bio-oil, bio-char, synthesis gas, and phenol is also discussed. Despite some progress, barricades still need to be met to commercialize advanced biofuels and compete with traditional fuels. [ABSTRACT FROM AUTHOR]

The conventional production of nanocellulose from biomass demands multiple steps involving numerous chemicals like corrosive acids, bases, halogenated bleaching agents, and mechanical energy. This research aims to find a greener approach to producing nanocellulose particles from biomass. In nature, the brown rot fungi utilize iron complex and hydrogen peroxide to overcome the lignin boundary and approach cellulose in biomass. This fact encouraged us to use the same oxidative catalytic system on biomass in a one-pot process. Pinewood sawdust was taken as starting material, and the iron oxide, hydrogen peroxide oxidation system was applied with varying the concentration of hydrogen peroxide and the reaction time. In 6 h, a one-pot system obtained a 95% pure cellulose with an aspect ratio of 1–15 from pinewood sawdust. The yield of the process was very high, i.e., from the total cellulose content in pinewood, 85% of cellulose was recovered in this process. The degree of polymerization of the obtained cellulose product was 100 ± 20, with an aspect ratio of 1–20. The particles were sphere and ellipsoidal-shaped, with the majority having a diameter of 120–180 nm. It had a crystallinity of 81%, an increase of 26% crystallinity was observed compared to the untreated pinewood sawdust. These nanocellulose particles would be a promising material for different derivatizing reactions, with their high surface area (15.0 ± 0.5 m2/g) and low degree of polymerization. This developed one-pot process has avoided using hazardous chemicals to produce nanocellulose particles. [ABSTRACT FROM AUTHOR]

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This paper mainly reviews the fate of microplastics, released from used face masks, in the water environment. Through previous experiments, the amount of fiber microplastics released from used face masks into aqueous environments was not negligible, with the maximum microplastics releasing amount reaching 10,000 piece·day−1 for each mask. Microplastic derived from these masks often occurred in the shape of polymeric fibers that resulted from the breakage of the chemical bonds in the plastic fibers by the force of water flow. The potential contact forces between microplastics (originating from face masks) with other pollutants, primarily encompass hydrophobic and electrostatic interactions. This critical review paper briefly illustrates the fate of microplastics derived from disposable face masks, further devising effective strategies to mitigate the environmental impact of plastic particle release from the used personal protective equipment. [ABSTRACT FROM AUTHOR]

Exome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which the patient underwent genetic testing, but are of potential value in patient care. In this study, we evaluated 81 American College of Medical Genetics (ACMG) medically actionable genes in 443 patients with various neurological disorders. The variants identified were classified and reported following the 2015 ACMG Standards and Guidelines for the interpretation of sequence variants and the ACMG recommendations for reporting secondary findings (v3.2). We detected a total of 17 variants in 17 patients across 9 different genes as secondary findings. Seven heterozygous variants were found in BRCA1, MSH2, and PALB2 which are part of the cancer phenotype category. Nine heterozygous variants were found in MYH7, TTN, LDLR, DSC2, and DSP which are part of the cardiovascular phenotype category. Finally, one heterozygous variant was found in TTR which is part of the miscellaneous phenotype category. Thirteen of above mentioned variants were classified as known pathogenic and four as expected pathogenic. The information collected in our study may lead to the prevention of severe morbidity and mortality and provides additional insight into the genetic background of the Serbian population., (© 2024 University College London (UCL) and John Wiley & Sons Ltd.)

Simple Summary: During the last few decades, the basis for a genetic predisposition for several cancer syndromes has been clarified, and the highly penetrant/high-risk genes mutated in familial cases are currently subjected to genetic diagnostic screening programs. Mutation testing in these genes has a major impact on genetic counseling, defines the prognosis of carriers, identifies the most appropriate and personalized prophylactic measures, and increases the chance of survival. We aim to underline the effectiveness of the multigene panel in increasing the detection rate of germline mutations in cancer patients and consequently improve the healthy carriers' identification. Background: Several hereditary–familial syndromes associated with various types of tumors have been identified to date, evidencing that hereditary cancers caused by germline mutations account for 5–10% of all tumors. Advances in genetic technology and the implementation of Next-Generation Sequencing (NGS) have accelerated the discovery of several susceptibility cancer genes, allowing for the detection of cancer-predisposing mutations in a larger number of cases. The aim of this study is to highlight how the application of an NGS-multigene panel to a group of oncological patients subsequently leads to improvement in the identification of carriers of healthy pathogenic variants/likely pathogenic variants (PVs/LPVs) and prevention of the disease in these cases. Methods: Starting from a total of 110 cancer patients carrying PVs/LPVs in genes involved in cancer susceptibility detected via a customized NGS panel of 27 cancer-associated genes, we enrolled 250 healthy collateral family members from January 2020 to July 2022. The specific PVs/LPVs identified in each proband were tested in healthy collateral family members via Sanger sequencing. Results: A total of 131 out of the 250 cases (52%) were not carriers of the mutation detected in the affected relative, while 119 were carriers. Of these, 81/250 patients carried PVs/LPVs on BRCA1/2 (33%), 35/250 harbored PVs/LPVs on other genes beyond BRCA1 and BRCA2 (14%), and 3/250 (1%) were PVs/LPVs carriers both on BRCA1/2 and on another susceptibility gene. Conclusion: Our results show that the analysis of BRCA1/2 genes would have only resulted in a missed diagnosis in a number of cases and in the lack of prevention of the disease in a considerable percentage of healthy carriers with a genetic mutation (14%). [ABSTRACT FROM AUTHOR]