44 research outputs found

    A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions

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    Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we reported a case of a novel splicing variant of COL2A1 in a fetus with ACG2. An NGS analysis of fetal DNA revealed a heterozygous variant c.1267-2_1269del located in intron 20/exon 21. The variant occurred de novo since it was not detected in DNA from the blood samples of parents. We generated an appropriate minigene construct to study the effect of the variant detected. The minigene expression resulted in the synthesis of a COL2A1 messenger RNA lacking exon 21, which generated a predicted in-frame deleted protein. Usually, in-frame deletion variants of COL2A1 cause a phenotype such as Kniest dysplasia, which is milder than ACG2. Therefore, we propose that the size and position of an in-frame deletion in COL2A1 may be relevant in determining the phenotype of skeletal dysplasia

    Non-coding RNAs and endometrial cancer

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    Non-coding RNAs (ncRNAs) are involved in the regulation of cell metabolism and neoplastic transformation. Recent studies have tried to clarify the significance of these information carriers in the genesis and progression of various cancers and their use as biomarkers for the disease; possible targets for the inhibition of growth and invasion by the neoplastic cells have been suggested. The significance of ncRNAs in lung cancer, bladder cancer, kidney cancer, and melanoma has been amply investigated with important results. Recently, the role of long non-coding RNAs (lncRNAs) has also been included in cancer studies. Studies on the relation between endometrial cancer (EC) and ncRNAs, such as small ncRNAs or micro RNAs (miRNAs), transfer RNAs (tRNAs), ribosomal RNAs (rRNAs), antisense RNAs (asRNAs), small nuclear RNAs (snRNAs), Piwi-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs), competing endogenous RNAs (ceRNAs), lncRNAs, and long intergenic ncRNAs (lincRNAs) have been published. The recent literature produced in the last three years was extracted from PubMed by two independent readers, which was then selected for the possible relation between ncRNAs, oncogenesis in general, and EC in particular

    37th International Symposium on Intensive Care and Emergency Medicine (part 3 of 3)

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    Minimally invasive fetal autopsy using three-dimensional ultrasound. a feasibility study

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    We aim to evaluate a new technique for minimally invasive autopsy: the Post-Mortem Ultrasound (PM-US). Our purpose is to demonstrate its feasibility and sensitivity in detecting major congenital abnormalities as compared to conventional autopsy

    Minimally invasive fetal autopsy using ultrasound: a feasibility study

    No full text
    We aim to evaluate a new technique for minimally invasive autopsy: the Post-Mortem Ultrasound (PM-US). Our purpose is to demonstrate its feasibility and sensitivity in detecting major congenital abnormalities as compared to conventional autopsy

    Emerging role of the β-catenin-PPARγ axis in the pathogenesis of colorectal cancer

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    Multiple lines of evidence indicate that Wnt/β-catenin signaling plays a fundamental role in colorectal cancer (CRC) initiation and progression. Recent genome-wide data have confirmed that in CRC this pathway is one of the most frequently modified by genetic or epigenetic alterations affecting almost 90% of Wnt/β-catenin gene members. A major challenge is thus learning how the corrupted coordination of this pathway is tied to other signalings to enhance cell growth. Peroxisome proliferator activated receptor γ (PPARγ) is emerging as a growth-limiting and differentiation-promoting factor. In tumorigenesis it exerts a tumor suppressor role and is potentially linked with the Wnt/β-catenin pathway. Based on these results, the identification of new selective PPARγ modulators with inhibitory effects on the Wnt/β-catenin pathway is becoming an interesting perspective. Should, in fact, these molecules display such properties, new research avenues would be opened aimed at developing new molecular targeted drugs. Herein, we review the basic principles and present new hypotheses underlying the crosstalk between Wnt/β-catenin and PPARγ signaling. Furthermore, we discuss the advances in our understanding as to how their altered regulation can culminate in colon cancer and the efforts aimed at designing novel PPARγ agonists endowed with Wnt/β-catenin inhibitory effects to be used as therapeutic and/or preventive agents

    Fetal organ weight estimation by postmortem high-field magnetic resonance imaging before 20 weeks' gestation

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    Objective To ascertain whether high-field magnetic resonance imaging (MRI) allows accurate estimation of the weight of various fetal organs at postmortem before 20 weeks' gestation. Methods From 23 fetuses at 9-20 weeks, following termination of pregnancy or in-utero fetal death (IUFD), 207 assorted fetal organs were evaluated by high-field MRI at 9.4 T prior to conventional autopsy. Fetal organ density was calculated by correlating volume and weight at autopsy using linear regression analysis, and this was used to estimate fetal organ weight by MRI. The relative error in MRI estimation of organ weight was calculated as follows: (SCOPUS: ar.jFLWINinfo:eu-repo/semantics/publishe

    Post-liquefaction normospermic human semen behaves as a weak-gel viscoelastic fluid

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    The rheological behavior of human semen is overlooked and essentially unexplored in the scientific literature. Here, we provide the first quantitative experimental evidence that post-liquafaction normospermic human semen behaves as a viscoelastic fluid and the shear moduli can be scaled according to the weak-gel model
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