Recently, it has been identified that circRNAs can act as miRNA sponge to regulate gene expression in various types of cancers, associating them with cancer initiation and progression. The present ...study aims to identify colorectal cancer-related circRNAs and the underpinning mechanisms of circRNA/miRNA/mRNA networks in the development and progress of Colorectal Cancer. Differentially expressed circRNAs, miRNAs, and mRNAs were identified in GEO microarray datasets using the Limma package of R. The analysis of differentially expressed circRNAs resulted in 23 upregulated and 31 downregulated circRNAs. CeRNAs networks were constructed by intersecting the results of predicted and experimentally validated databases, circbank and miRWalk, and by performing DEMs and DEGs analysis using Cytoscape. Next, functional enrichment analysis was performed for DEGs included in ceRNA networks. Followed by survival analysis, expression profile assessment using TCGA and GEO data, and ROC curve analysis we identified a ceRNA sub-networks that revealed the potential regulatory effect of hsa_circ_0001955 and hsa_circ_0071681 on survival-related genes, namely KLF4, MYC, CCNA2, RACGAP1, and CD44. Overall, we constructed a convoluted regulatory network and outlined its likely mechanisms of action in CRC, which may contribute to the development of more effective approaches for early diagnosis, prognosis, and treatment of CRC.
The present study has been carried out to consider the effect of acetylation conditions and type of bleached pulps Kraft and SO
2
–ethanol–water (SEW) pulps on the properties of obtained cellulose ...acetates (CA) and their films. The acetylation reaction in the absence of solvent was performed by using acetic anhydride and iodine as a catalyst. The efficiency of acetylation and the degree of substitution, crystallinity, transparency, tensile strength, young modulus, differential scanning calorimetry, water vapor permeability (WVP), scanning electron microscope and atomic force microscopy images were studied. The results showed that the while the Young’s modulus and transparency increased by up to 8% of the catalyst due to the increase in iodine charge; higher iodine levels led to embrittlement of the film. The increase in the ratio of acetic anhydride to pulp (A:P) from 10:1 to 20:1 with 4% catalyst led to a reduction of the DS by 8–10%, the crystallinity by 25%, the Young’s modulus by 13–25%, and transparency by 1–34% of a CA obtained from SEW and Kraft pulp, respectively. With the use of higher amounts of the catalyst (8%) and a ratio of A:P equal to 20:1, all properties of CA were suitable for film preparation. WVP of films from Kraft pulp and SEW pulp showed a decrease of about 8.5% and 18% respectively when increasing the iodine amount from 4 to 8% in acetylation. The tensile strength of CA films was initially increased by enhancing the amount of iodine, but then reduced in a similar way to other properties. The condition of acetylation can be adjusted to produce a high-quality CA film according to the characteristics of the pulp used as raw material.
Graphical abstract
Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families ...harboring the homozygous MINPP1 (NM_004897.4) variants; c.75_94del, p.(Leu27Argfs*39), c.851 C > A, p.(Ala284Asp), c.1210 C > T, p.(Arg404*), and c.992 T > G, p.(Ile331Ser). The homozygous p.(Leu27Argfs*39) change is predicted to result in a complete absence of MINPP1. The p.(Arg404*) would likely lead to a nonsense mediated decay, or alternatively, a loss of several secondary structure elements impairing protein folding. The missense p.(Ala284Asp) affects a buried, hydrophobic residue within the globular domain. The introduction of aspartic acid is energetically highly unfavorable and therefore predicted to cause a significant reduction in protein stability. The missense p.(Ile331Ser) affects the tight hydrophobic interactions of the isoleucine by the disruption of the polar side chain of serine, destabilizing the structure of MINPP1. The overlap of the above-mentioned genotypes and phenotypes is highly improbable by chance. MINPP1 is the only enzyme that hydrolyses inositol phosphates in the endoplasmic reticulum lumen and several studies support its role in stress induced apoptosis. The pathomechanism explaining the disease mechanism remains unknown, however several others genes of the inositol phosphatase metabolism (e.g., INPP5K, FIG4, INPP5E, ITPR1) are correlated with phenotypes of neurodevelopmental disorders. Taken together, we present MINPP1 as a novel autosomal recessive pontocerebellar hypoplasia gene.
Abstract This study aimed to investigate the biodegradation behaviour of starch/nanocellulose/black tea extract (SNBTE) films in a 30-day soil burial test. The SNBTE films were prepared by mixing ...commercial starch, nanocellulose (2, 4, and 6%), and an aqueous solution of black tea extract by a simple mixing and casting process. The chemical and morphological properties of the SNBTE films before and after biodegradation were characterized using the following analytical techniques such as field emission scanning electron microscopy (FESEM), energy-dispersive X-ray spectroscopy (EDX), and fourier transform infrared (FTIR). The changes in soil composition, namely pH, electrical conductivity (EC), moisture content, water holding capacity (WHC), soil respiration, total nitrogen, weight mean diameter (MDW), and geometric mean diameter (GMD), as a result of the biodegradation process, were also estimated. The results showed that the films exhibited considerable biodegradability (35–67%) within 30 days while increasing soil nutrients. The addition of black tea extract reduced the biodegradation rate due to its polyphenol content, which likely resulted in a reduction in microbial activity. The addition of nanocellulose (2–6% weight of starch) increased the tensile strength, but decreased the elongation at break of the films. These results suggest that starch nanocellulose and SNBTE films are not only biodegradable under soil conditions but also positively contribute to soil health, highlighting their potential as an environmentally friendly alternative to traditional plastic films in the packaging industry.
SO
2
–ethanol–water (SEW) fractionation and kraft pulping were applied to produce pulp from stem chips of
Calotropis procera
. The two pulps with different purities of cellulose were used for the ...production of cellulose acetate (CA) films. The motivation of this study was to investigate the possibility to produce high-quality cellulose CA films from low-grade pulp. The results showed that SEW pulping was more efficient in the selective removal of lignin and hemicelluloses from
Calotropis procera
wood as compared to kraft pulping. There, the pulping intensity was enhanced by increasing the H-factor to reach low lignin and hexenuronic acid (HexA) concentrations. However, a relatively high amount of alkali-insoluble xylan remained in the bleached kraft pulp and also the HexA content could not be fully removed during ECF-bleaching. In contrast, xylan was readily removed during SEW pulping and only a small amount of HexA (8.6 meq/kg) was observed in the pulp. High weight gains of about 55 and 63% were obtained during acetylation of kraft pulp and SEW pulp, respectively indicating a high degree of substitution (DS). The CA films prepared from both kraft and SEW pulps revealed higher transparency (88.0 and 88.5%), tensile stress (109 and 146 MPa) and modulus (4.6 and 5.6 GPa) as reported by previous studies. The results confirmed that CA films can be produced from SEW or kraft pulps through iodine catalysis showing similar properties than those obtained from high-purity dissolving pulps.
In recent years, attention to novel papermaking processes has increased significantly. The SEW fractionation process is one of the novel processes for producing a wide range of high value-added ...products such as pulp, paper, lignosulfonates, and biofuels in a biorefinery system. This study aimed to investigate the possibility of producing pulp and paper from Eldar pine (
Pinus eldarica
) using SEW fractionation and comparing it with the Kraft process followed by elemental chlorine free (ECF) bleaching. The results showed that the tensile, burst, and tear indexes are lower for SEW handsheets than for Kraft handsheets. The brightness before bleaching of SEW handsheets is higher than that of Kraft handsheets. The apparent density is higher for the SEW handsheets than the Kraft. Since there are some limitations in the use of SEW pulps such as high apparent density and lower strength properties than the Kraft pulps, however, these factors do not create industrial constraints for the use of these pulps. Low energy consumption of SEW pulps in the beating and high brightness before bleaching are among the obvious advantages of the SEW process. Therefore, it seems that in cellulose conversion industries, such as the production of nanocellulose, the use of SEW pulps has many advantages in terms of energy consumption, and the high brightness before bleaching eliminates long bleaching sequences in pulp mills.
Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 ...individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential
UDP
-
glucose pyrophosphorylase
(
UGP2
) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in
UGP2
as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with life. We provide additional examples where a similar disease mechanism applies.
Polycystic ovarian syndrome (PCOS) is a common endocrine disorder that affects 6-20% of women of reproductive age. One of the symptoms of PCOS is hyperandrogenism, which can impair follicular ...development. This disruption can cause issues with the development of oocytes and the growth of embryos. Although the exact cause of PCOS is not yet fully understood, studying the gene expression pattern of cumulus cells, which play a crucial role in the maturation and quality of oocytes, could help identify the genes associated with oocyte maturation in PCOS women. Through indirect activation of APC/Cdc20, RBX1 enables oocytes to bypass the GV (germinal vesicles) stage and advance to the MII (metaphase II) stage. our other gene is the BAMBI gene which stimulates WNT signaling, that is a crucial pathway for healthy ovarian function. This study aims to explore the expression level of the RBX1 and BAMBI genes between GV and MII oocytes of PCOS and non-PCOS groups.
In this experiment, we gathered the cumulus cells of MII (38 cases and 33 control) and GV (38 cases and 33 control) oocytes from women with/without PCOS. Besides, quantitative RT-PCR was used to assess the semi-quantitative expression of BAMBI and RBX1.
According to our research, the expression level of RBX1 and BAMBI in MII and GV cumulus cells of PCOS patients was significantly lower than that in non-PCOS ones.
This research raises the possibility of RBX1 and BAMBI involvement in oocyte quality in PCOS women.
Fostering critical thinking (CT) is one of the most important missions in medical education. Concept mapping is a method used to plan and create medical care through a diagrammatic representation of ...patient problems and medical interventions. Concept mapping as a general method can be used to improve CT skills in medical students. The aim of this study was to explore the effect of concept mapping on CT skills of medical students.
This quasi-experimental study was conducted on 100 second-year medical students which take an anatomy course. Participants were randomly assigned into a control group (lecture-based) and an intervention group (concept mapping). CT levels of medical students were assessed using the California Critical Thinking Skills Test. Data were analyzed using independent sample t-test.
Before intervention, CT scores of the intervention and control groups were 6.68 ± 2.55 and 6.64 ±2.74, respectively, and after intervention, they were 11.64 ±2.29 and 10.04 ± 3.11, respectively. Comparison of mean score differences for both groups before and after intervention demonstrated that CT scores in the experimental group significantly increased after intervention (P=0.021).
Medical students who were taught through concept mapping showed an increase in CT scores, compared with those in the control group. Medical students require effective CT skills in order to make sound knowledge-based assessment and treatment choices during patient care. Therefore, instructors and planners of medical education are expected to apply this educational strategy for developing CT skills in medical students.
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