Patient-specific finite element modeling of bones from X-ray images based on computer-tomography databases

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A Modeling for Enhancing Consumer Trust in Organic Food through Authentic Content in Social Networks

Purpose: This research aims to identify factors that improve consumers' trust in organic food in social networks by providing authentic content, prioritizing these factors, and presenting a model for them. Methodology: In the phases of this research, first, the research literature in this field was examined. Then, with the theoretical saturation approach and through interviews with primary samples of the target audience and organic food consumers, a questionnaire was designed to measure the impact of 20 factors on consumer trust. Four hundred twenty-five organic food consumers confirmed this questionnaire and its factors Findings: The results led to the discovery of 20 effective factors, which were categorized and modeled with the help of exploratory factor analysis in 4 categories of hidden variables with the names of emphasis on standards, description of product validity, credible recommenders, and valid supply. In the final step, with the help of a random forest algorithm in the artificial neural network, 20 identified factors were prioritized. Originality/value: For the first time, this study seeks to increase consumers' trust in organic food in social networks by improving the presentation of appropriate advertising content in messages. So far, no research has been done in this field, specifically in improving consumption and, as a result, the sale and acquisition of the organic food market

The Involvement of Mir-210 in Unrestricted Somatic Stem Cells Differentiation into Osteoblasts

Introduction: Bone surgery as a current bone treatment method is not always successful to fulfil bone repair in bone degenerative diseases orextensive injuries. Due to the limited capacity of bone remodeling, the demand for alternative approaches remains to be met. Thus, efforts in exvivo generation of bone forming cells, osteoblasts, and their further application in cell therapy as a promising approach are of vital prominencefrom a scientific perspective. Though several studies have focused on microRNA roles in osteoblast differentiation in various cell recourses, yetnone has reported miR-210 enhancing role in human mesynchymal stem cells (MSCs) so far.Materials and Methods: Hence, we wished toexamine the nature of the relationship between osteoblast differentiation and miR-210 in unique human mesynchymal stem cells, unrestrictedsomatic stem cells (USSCs). Osteoblast markers at gene level namely, Runx2, col I in addition to osteocalcin were assessed using qRT-PCR, andAlizarin Red S staining was also carried out to observe histochemical changes 7 days following miR-210 transduction.Results: The conclusion that follows from our findings represents a marked increase in osteoblast differentiation markers. Interestingly, for the first time, human USSCsdifferentiation into osteoblasts was performed in our research.Conclusion: our study may provide helpful insights into surmounting bonerelated issues by combination of both gene and cell therapy

Causal Effect Identification in Uncertain Causal Networks

Causal identification is at the core of the causal inference literature, where complete algorithms have been proposed to identify causal queries of interest. The validity of these algorithms hinges on the restrictive assumption of having access to a correctly specified causal structure. In this work, we study the setting where a probabilistic model of the causal structure is available. Specifically, the edges in a causal graph exist with uncertainties which may, for example, represent degree of belief from domain experts. Alternatively, the uncertainty about an edge may reflect the confidence of a particular statistical test. The question that naturally arises in this setting is: Given such a probabilistic graph and a specific causal effect of interest, what is the subgraph which has the highest plausibility and for which the causal effect is identifiable? We show that answering this question reduces to solving an NP-complete combinatorial optimization problem which we call the edge ID problem. We propose efficient algorithms to approximate this problem and evaluate them against both real-world networks and randomly generated graphs.Comment: 27 pages, 9 figures, NeurIPS 2023 conference, causal identification, causal discovery, probabilistic model

Effect of PLGA-IB on ICAM-1 and VCAM-1 expression in a mice adhesion model

Background: In this study, we compared the effect of ibuprofen (IB) while incorporating by Poly Lactic-co-Glycolic Acid (PLGA) nanofiber on expression of adhesion molecules ICAM-1 and VCAM-1 in a mice adhesion model.Materials and Methods: Using an adhesion model were induced in mice, PLGA-IB and PLGA membranes and IB were sutured between the abdominal wall and peritoneum after surgical operation to reveal the best membrane for prevention of postoperative adhesion bands by comparison of ICAM-1 and VCAM-1 expression.Results: Compared with other groups, PLGA-IB showed a greater ability to reduce ICAM-1 and VCAM-1 expression.Conclusion: These results suggested that in considering the FDA approved polymers, PLGA-IB could be introduced as a potential candidate for prevention of abdominal post-surgery inflammation and adhesion band formation after surgeries

Fuzzy Analysis of Resonance Frequencies for Structural Inspection of an Engine Cylinder Block

Summary: A new inspection technique for complex mechanical structures is proposed in this paper, where a fuzzy inference system carries out structural inspection. The inputs to the fuzzy inference system are the elements of a fault signature, an array of numbers prepared with use of below 5 kHz resonance frequencies of faultless and a number of faulty specimens. Advantage: Below 5 kHz resonance frequencies are easier and less expensive to obtain compared to higher frequency ones. Limit: Due to high expenses of experiments, reliable finite element models were alternatively used to obtain resonance frequencies of the faulty specimens. Results: The developed fuzzy inference system in this research accurately located an under-surface fault in an engine cylinder block

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and an increased tendency to develop respiratory distress during pneumonia. Here, we report six new patients with HIDEA syndrome caused by five different biallelic P4HTM variants, including three novel variants. We describe two Finnish enriched pathogenic P4HTM variants and demonstrate that these variants are embedded within founder haplotypes. We review the clinical data from all previously published patients with HIDEA and characterize all reported P4HTM pathogenic variants associated with HIDEA in silico. All known pathogenic variants in P4HTM result in either premature stop codons, an intragenic deletion, or amino acid changes that impact the active site or the overall stability of P4H-TM protein. In all cases, normal P4H-TM enzyme function is expected to be lost or severely decreased. This report expands knowledge of the genotypic and phenotypic spectrum of the disease.publishedVersio

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

PURPOSE: This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. METHODS: We performed a detailed clinical characterization of 4 unrelated individuals from consanguineous families with a neurodevelopmental disorder. We used exome sequencing or targeted-exome sequencing, cosegregation, in silico protein modeling, and functional analyses of variants in HEK293 cells and Drosophila melanogaster, as well as in proband-derived fibroblast cells. RESULTS: In the 4 individuals, we identified 3 novel homozygous variants in oxoglutarate dehydrogenase (OGDH) (NM_002541.3), which encodes a subunit of the tricarboxylic acid cycle enzyme α-ketoglutarate dehydrogenase. In silico homology modeling predicts that c.566C>T:p.(Pro189Leu) and c.890C>A:p.(Ser297Tyr) variants interfere with the structure and function of OGDH. Fibroblasts from individual 1 showed that the p.(Ser297Tyr) variant led to a higher degradation rate of the OGDH protein. OGDH protein with p.(Pro189Leu) or p.(Ser297Tyr) variants in HEK293 cells showed significantly lower levels than the wild-type protein. Furthermore, we showed that expression of Drosophila Ogdh (dOgdh) carrying variants homologous to p.(Pro189Leu) or p.(Ser297Tyr), failed to rescue developmental lethality caused by loss of dOgdh. SpliceAI, a variant splice predictor, predicted that the c.935G>A:p.(Arg312Lys)/p.(Phe264_Arg312del) variant impacts splicing, which was confirmed through a mini-gene assay in HEK293 cells. CONCLUSION: We established that biallelic variants in OGDH cause a neurodevelopmental disorder with metabolic and movement abnormalities

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five unrelated cardiomyopathy families by next-generation sequencing. In the first family, we identified compound heterozygous LOF variants in LDB3 in a fetus with bilateral talipes and mild left cardiac ventricular enlargement. Ultra-structural examination revealed highly irregular Z-disc formation, and RNA analysis demonstrated little/no expression of LDB3 protein with a functional C-terminal LIM domain in muscle tissue from the affected fetus. In a second family, a homozygous LDB3 nonsense variant was identified in a young girl with severe early-onset dilated cardiomyopathy with left ventricular non-compaction; the same homozygous nonsense variant was identified in a third unrelated female infant with dilated cardiomyopathy. We further identified homozygous LDB3 frameshift variants in two unrelated probands diagnosed with cardiomegaly and severely reduced left ventricular ejection fraction. Our findings demonstrate that recessive LDB3 variants can lead to an early-onset severe human phenotype of cardiomyopathy and myopathy, reminiscent of the knockout mouse phenotype, and supporting a loss of function mechanism

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Purpose: This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.Methods: We performed a detailed clinical characterization of 4 unrelated individuals from consanguineous families with a neurodevelopmental disorder. We used exome sequencing or targeted-exome sequencing, cosegregation, in silico protein modeling, and functional analyses of variants in HEK293 cells and Drosophila melanogaster, as well as in proband-derived fibroblast cells.Results: In the 4 individuals, we identified 3 novel homozygous variants in oxoglutarate dehydrogenase (OGDH) (NM_002541.3), which encodes a subunit of the tricarboxylic acid cycle enzyme alpha-ketoglutarate dehydrogenase. In silico homology modeling predicts that c.566C > T:p.(Pro189Leu) and c.890C > A:p.(Ser297Tyr) variants interfere with the structure and function of OGDH. Fibroblasts from individual 1 showed that the p.(Ser297Tyr) variant led to a higher degradation rate of the OGDH protein. OGDH protein with p.(Pro189Leu) or p.(Ser297Tyr) variants in HEK293 cells showed significantly lower levels than the wild-type protein. Furthermore, we showed that expression of Drosophila Ogdh (dOgdh) carrying variants homologous to p.(Pro189Leu) or p.(Ser297Tyr), failed to rescue developmental lethality caused by loss of dOgdh. SpliceAI, a variant splice predictor, predicted that the c.935G > A:p.(Arg312Lys)/p.(Phe264_Arg312del) variant impacts splicing, which was confirmed through a mini-gene assay in HEK293 cells.Conclusion: We established that biallelic variants in OGDH cause a neurodevelopmental disorder with metabolic and movement abnormalities.(c) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY licensePeer reviewe