442 Results Found

Background: Practices in somatic variant interpretation and classification vary between Canadian clinical molecular diagnostic laboratories, and understanding of current practices and perspectives is limited. To define gaps and future directions, inc...

POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in predisposition to cancer, pr...

In most diagnostic laboratories, targeted next-generation sequencing (NGS) is currently the default assay for the detection of somatic variants in solid as well as haematological tumours. Independent of the method, the final outcome is a list of vari...

A glioma is a solid brain tumor which originates in the brain or brain stem area. The diagnosis of gliomas based on standard-of-care (SOC) techniques includes karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), f...

An increased mortality risk was observed in patients with cancer during the first wave of COVID-19. Here, we describe determinants of mortality in patients with solid cancer comparing the first and second waves of COVID-19. A retrospective analysis e...

(1) Introduction: Telomerase reverse transcriptase (TERT) promoter mutations are associated with unfavorable clinical outcomes in papillary thyroid carcinomas (PTCs). Two substitution mutations, C228T (c.1-124C>T) and C250T (c.1-146C>T), make u...

POZ/BTB and AT-hook-containing zinc finger protein 1 (PATZ1) is an emerging cancer-related gene that is downregulated in different human malignancies, including thyroid cancer, where its levels gradually decrease going from papillary thyroid carcinom...

The immunogenicity of severe acute respiratory syndrome 2 virus (SARS-CoV-2) vaccines in immunocompromised patients remains to be further explored. Here, we evaluated the immunogenicity elicited by complete vaccination with BNT162b2 vaccine in solid...

Genomic structural variants comprise a significant fraction of somatic mutations driving cancer onset and progression. However, such variants are not readily revealed by standard next-generation sequencing. Optical genome mapping (OGM) surpasses shor...

Isocitrate dehydrogenase (IDH) variants can lead to the development and/or progression of various solid tumors and hematological malignancies. IDH testing can guide diagnosis, prognosis, and therapeutic choice and typically relies on NGS, IHC, or PCR...

The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression. The EZH2 locus is rarely mutated in solid t...

The phenotypic effects of single nucleotide polymorphisms (SNPs) in the development of sporadic solid cancers are still scarce. The aim of this review was to summarise and analyse published data on the associations between SNPs in mismatch repair gen...

The molecular heterogeneity of KRAS is well established, with a pool of variants comprising >75% of all known mutations; this pool includes mutations in classic codons 12, 13, and 61, as well as 146 and 117. In addition, there are rare variants th...

Background: Secondary pathogenic/likely pathogenic germline variants (P/LPGVs) identified on solid tumor genomic profiling (TGP) are a commonly encountered clinical issue. A proportion of oncology patients that undergo TGP will have a secondary P/LPG...

Abeliophyllum distichum (Oleaceae), which is the only species in the monotypic genus and is grown only on the Korean peninsula, has a high scarcity value. Its five variants (white, pink, round, blue, and ivory) have different morphological characteri...

This study reports on the production and characterization of highly porous (up to 91%) composite foams for potential bone tissue engineering (BTE) applications. A calcium phosphate-based glass particulate (PGP) filler of the formulation 50P₂O₅-40CaO-...

This study describes the preparation, characterization, and influence of the enantiopure vs. racemic coformer on the physico-chemical properties of a pharmaceutical cocrystal. For that purpose, two new 1:1 cocrystals, namely lidocaine:dl-menthol and...

In this paper, we take a look at the analysis and parameter identification for control-oriented, dynamic models for the thermal subsystem of solid oxide fuel cells (SOFC) from the systematized point of view of verification and validation (V&V). F...

The implementation of 1,3 β-d-glucan (BDG) has been proposed as a diagnostic tool in antifungal stewardship programs (ASPs). We aimed to analyze the influence of serum BDG in an ASP for oncologic patients and solid organ transplant (SOT) recipie...

Optical rotatory dispersion (ORD) is a beautiful analytical technique for the study of chiral molecules and polymers. In this study, ORD was applied successfully to follow the degree of polycondensation of l-(+)-lactic acid toward the formation of po...

Tangerines (Citrus reticulata) are popular fruits worldwide, being rich in many bioactive metabolites. The setubalense variety cultivated on Madeira Island has an intense aroma easily distinguishable from other tangerines, being traditionally used to...

Comprehensive genomic profiling examinations (CGPs) have recently been developed, and a variety of tumor-agnostic mutations have been detected, leading to the development of new molecular-targetable therapies across solid tumors. In addition, the elu...

The present study investigated the expression and clinical role of hyaluronan synthases (HAS1-3) and hyaluronidases (Hyal1-3) in serous ovarian carcinoma. HAS and HYAL mRNA expression was analyzed in 97 tumors (61 effusions, 27 primary carcinomas, 9...

Because of long-term immunosuppression, solid organ transplant recipients are at increased risk for keratinocyte cancer. We matched solid organ transplant patients (n = 150), cases with keratinocyte cancers and tumor-free controls, considering the mo...

Purpose: Colorectal cancer (CRC) is a highly aggressive malignancy of the digestive system. Somatic variants in the Kirsten rat sarcoma virus oncogene homolog (KRAS) gene have a significant influence on CRC progression and serve as key predictors of...

Combustion of biomass-based solid fuels is becoming increasingly popular, especially in small heat sources. A major problem in the combustion of biomass is the increased production of emissions and especially the solid component of PM particles. Curr...

The use of biogas digestate as fertilizer is limited by the farm nutrient balance. Mechanical separation and drying of digestate increases its transport worthiness as well as the economic feasibility of nutrient export. This study compares the fertil...

A solid solution of Ti_{1 − x}Nb_xS₃ composition (x = 0, 0.05, 0.07, 0.10) was synthesized by solid-liquid-vapor reaction followed by spark plasma sintering. The obtained compounds crystallize in the monoclinic ZrSe₃ structure type. For the x = 0.07 samp...

The prevalence of hereditary cancer in children was estimated to be very low until recent studies suggested that at least 10% of pediatric cancer patients carry a germline mutation in a cancer predisposition gene. A significant proportion of pathogen...

In this article, we subjected the Ti60 alloy to solid-solution treatment at 1020 °C and aging treatment at 600 °C, respectively, achieving a bimodal microstructure. The microstructures obtained after aging treatment showed no significant diff...

Molecular dynamics simulations of solids are often performed using anisotropic barostats that allow the shape and volume of the periodic cell to change during the simulation. Most existing schemes are based on a second-order differential equation tha...

The use of targeted Next Generation Sequencing (NGS) for the diagnostic screening of somatic variants in solid tumor samples has proven its high clinical value. Because of the large number of ongoing clinical trials for a multitude of variants in a g...

Molecular profiling of solid tumors facilitates personalized, targeted therapeutic interventions. The ability to perform next-generation sequencing (NGS), especially from small tissue samples, in a short turnaround time (TAT) is essential to providin...

In this work, we have synthesized a more acid-stable variant of the classic chromophore difluoro-Bodipy by substituting the difluoro ligands at boron with cyano groups. This dicyano-Bodipy variant allowed the in situ incorporation during the MOF form...

Comprehensive next-generation sequencing (NGS) panels for cancer diagnostics create a bottleneck for interpretation. QIAGEN Clinical Insights Interpret One (QCI) is a clinical decision support software that supports molecular pathologists in the clas...

The concept of liquid biopsy as an analysis tool for non-solid tissue carried out for the purpose of providing information about solid tumors was introduced approximately 20 years ago. Additional to the detection of circulating tumor cells (CTCs), th...

The grain of 30 winter wheat cultivars differing in terms of their resistance to FHB (Fusarium head blight) was tested. The cultivars were grown in four variants of field trials established in a split-plot design: control without fungicides, chemical...

The mucin (MUC) family includes several genes aberrantly expressed in multiple carcinomas and mediates diverse pathways essentials for oncogenesis, in both solid and hematological malignancies. Acute Lymphoblastic Leukemia (ALL) can have its course i...

Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 loss of function (LOF) variants...

The key question for understanding the corrosion phenomena of Si₃N₄-SiC material in Al reduction cells is as follows: does the interaction with gases promote future step corrosion by molten cryolite (bath) or does cryolite interact with the Si₃N₄-SiC...

Anaerobic digestate has been commonly used for the cultivation of vegetable seedlings and as one of the measures for improving peat substrate. Studies have shown that there has been further research conducted on the effect of anaerobic digestate on g...

The adaptable nature of the SARS-CoV-2 virus has led to the emergence of multiple viral variants of concern. This research builds upon a previous demonstration of sampling human hand odor to distinguish SARS-CoV-2 infection status in order to incorpo...

Earlier studies have shown that 30 L steel, used for the manufacture of hydraulic machinery equipment elements, has greater resistance to cavitation wear than 20 GL steel. This paper presents the results of experimental studies of the solid particle...

Due to its multiple amino groups, triethylenetetramine (TETA) can be used as an effective formaldehyde scavenger contributing to the reduction in formaldehyde emission from plywood. This study aimed to evaluate the effect of small TETA loadings on th...

The possibility of using solid-state joining technologies, such as friction stir welding (FSW) and its variants, to perform dissimilar joints is one of the well know advantages of this class of processes, namely because they are impossible to be prod...

As next-generation sequencing develops, there are significant associations between glucokinase regulatory protein (GCKR) variants and many diseases, especially metabolic diseases. However, there is a lack of solid descriptions and summaries of how GC...

Background: A pilot inter-laboratory proficiency scheme for 5 Ontario clinical laboratories testing tumour samples for the Ontario-wide Cancer Targeted Nucleic Acid Evaluation (OCTANE) study was undertaken to assess proficiency in the identification...

Background: Comprehensive genomic profiling (CGP) is frequently adopted to direct the clinical care of myeloid neoplasms and solid tumors, but its utility in the care of lymphoid and histiocytic cancers is less well defined. Methods: In this study, w...

The P2X7 receptor for extracellular ATP is a well-established mediator of tumoral development and progression both in solid cancers and hematological malignancies. The human P2X7 gene is highly polymorphic, and several splice variants of the receptor...

The aim of this research was to evaluate the physicochemical and textural properties of the binary hydrogels obtained using plant-based protein and prebiotic polysaccharide. The concentration levels of both biopolymers (pea protein and psyllium husk)...