Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.
View Article and Find Full Text PDFUnlabelled: Bacterial pathogens remain poorly characterized in bats, especially in North America. We describe novel (and in some cases panmictic) hemoplasmas (10.1% positivity) and bartonellae (25.
View Article and Find Full Text PDFJ Sci Food Agric
October 2024
Background: The phytopathogenic genus Fusarium can cause damage such as root and stem rot in economically important crops, with significant implications. To seek a sustainable method for controlling this phytopathogen in seeds, the antifungal activity of essential oils (EOs) from thyme (Thymus vulgaris) and oregano (Origanum vulgare) was evaluated against isolates of F. graminearum, F.
View Article and Find Full Text PDFWorld J Microbiol Biotechnol
October 2024
Drug-resistant bacteria such as Escherichia coli and Staphylococcus aureus represent a global health problem that requires priority attention. Due to the current situation, there is an urgent need to develop new, more effective and safe antimicrobial agents. Biotechnological approaches can provide a possible alternative control through the production of new generation antimicrobial agents, such as silver nanoparticles (AgNPs) and bacteriocins.
View Article and Find Full Text PDFBackground: Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of malignancies, including non-Hodgkin lymphomas (NHL). Most patients die due to cancer before the age of 20 years. Limited data exist on CMMRD-associated lymphomas and their outcome.
View Article and Find Full Text PDFObjective: This study aimed to identify biochemical, hematological, and endocrinological abnormalities in a sample of children and adolescents with underweight AN and atypical AN and to compare these results between the two groups.
Method: Based on the 5th BMI-percentile admission, adolescents with underweight AN (n = 520) and atypical AN (n = 255) were included and medical records were reviewed.
Results: Low prealbumin (35%) and neutropenia (39%), and several abnormalities in endocrinological parameters (50%) were the most common alterations found in the whole sample.
Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2, MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer syndrome, called constitutional mismatch repair deficiency (CMMRD). The European consortium "Care for CMMRD" (C4CMMRD) was founded in Paris in 2013 to facilitate international collaboration and improve our knowledge of this rare cancer predisposition syndrome. Following initial publications on diagnostic criteria and surveillance guidelines for CMMRD, several partners collaborating within the C4CMMRD consortium have worked on and published numerous CMMRD-related clinical and biological projects.
View Article and Find Full Text PDFAccurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. Here we present SpadaHC, a web-based database for sharing variants in hereditary cancer genes in the Spanish population.
View Article and Find Full Text PDFOral administration of harmless antigens can induce suppression of reactive immune responses, a process that capitalises on the ability of the gastrointestinal tract to tolerate exposure to food and commensal microbiome without triggering inflammatory responses. Repeating exposure to type II collagen induces oral tolerance and inhibits induction of arthritis, a chronic inflammatory joint condition. Although some mechanisms underlying oral tolerance are described, how dysregulation of gut immune networks impacts on inflammation of distant tissues like the joints is unclear.
View Article and Find Full Text PDFThe molecular diagnosis of mismatch repair-deficient cancer syndromes is hampered by difficulties in sequencing the PMS2 gene, mainly owing to the PMS2CL pseudogene. Next-generation sequencing short reads cannot be mapped unambiguously by standard pipelines, compromising variant calling accuracy. This study aimed to provide a refined bioinformatic pipeline for PMS2 mutational analysis and explore PMS2 germline pathogenic variant prevalence in an unselected hereditary cancer (HC) cohort.
View Article and Find Full Text PDFPurpose: The purpose of this study was to evaluate the accuracy of peripheral oxygen saturation (SpO 2 ) measurements from Polar Elixir™ pulse oximetry technology compared with arterial oxygen saturation (SaO 2 ) measurements during acute stepwise steady-state inspired hypoxia at rest. A post hoc objective was to determine if SpO 2 measurements could be improved by recalibrating the Polar Elixir™ algorithm with SaO 2 values from a random subset of participants.
Methods: The International Organization for Standardization (ISO) protocol (ISO 80601-2-61:2017) for evaluating the SpO 2 accuracy of pulse oximeter equipment was followed whereby five plateaus of SaO 2 between 70% and 100% were achieved using stepwise reductions in inspired O 2 during supine rest.
Background: Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR inactivation in a variable range of LLS-associated tumors. Moreover, translating tumor testing results into patient management remains controversial.
View Article and Find Full Text PDFBackground: Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in PMS2 analysis, the most frequently mutated gene in CMMRD. We present the validation of a robust functional tool for CMMRD diagnosis and the characterization of microsatellite instability (MSI) patterns in blood and tumors.
View Article and Find Full Text PDFClimate change caused by global warming involves crucial plant growth factors such as atmospheric CO concentration, ambient temperature or water availability. These stressors usually co-occur, causing intricate alterations in plant physiology and development. This work focuses on how elevated atmospheric CO levels, together with the concomitant high temperature, would affect the physiology of a relevant crop, such as broccoli.
View Article and Find Full Text PDFRationale And Objective: Treatment for head and neck cancer (HNC) can lead to decreased oral intake which often requires gastrostomy tube (g-tube) placement to provide nutritional support. A multidisciplinary team (MDT) consisting of interventional radiology (IR), HNC oncology and surgery, nutrition, and speech language pathology departments implemented an expedited outpatient g-tube placement pathway to reduce hospital stays and associated costs, initiate feeds sooner, and improve communication between care teams. This single center study investigates differences in complications, time to procedure and costs savings with implementing this pathway.
View Article and Find Full Text PDFThe parasitic worm-derived immunomodulator, ES-62 rescues defective levels of IL-10-producing regulatory B cells (Bregs) and suppresses chronic Th1/Th17-driven inflammation to protect against joint destruction in the mouse collagen-induced arthritis (CIA) model of rheumatoid arthritis. Such autoimmune arthritis is also associated with dysbiosis of the gut microbiota and disruption of intestinal barrier integrity. We recently further exploited the CIA model to show that ES-62's prevention of joint destruction is associated with protection of intestinal barrier integrity and normalization of the gut microbiota, thereby suppressing the gut pathology that precedes the onset of autoimmunity and joint damage in CIA-mice.
View Article and Find Full Text PDFBacterial pathogens remain poorly characterized in bats, especially in North America. We describe novel (and in some cases panmictic) hemoplasmas (10.5% positivity) and bartonellae (25.
View Article and Find Full Text PDFGEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this disease.
View Article and Find Full Text PDFFishing causes direct removal of individuals from wild populations but can also cause a physiological disturbance in fish that are released or discarded after capture. While sublethal physiological effects of fish capture have been well studied in commercial and recreational fisheries, this issue has been overlooked for the ornamental fish trade, where it is common to capture fish from the wild and discard non-target species. We examined metabolic responses to capture and discard procedures in the three-striped dwarf cichlid , a popular Amazonian aquarium species that nonetheless may be discarded when not a target species.
View Article and Find Full Text PDFPropolis is one functional supplement with hundreds of years of usage. However, it's rarely consumed directly for its resinous property. Herein, a pre-treated process which can remove the impurity while preserve its bioactivities is needed to maximise its therapeutic opportunities.
View Article and Find Full Text PDFThe occurrence of thirty-four flame retardants and plasticizers throughout treatment steps in a drinking water treatment plant (DWTP) was analyzed to assess removal efficiencies of filtration, ultraviolet (UV) treatment, and chlorination. Legacy compounds and replacements were included to compare their presence and persistence. Twenty-four-hour composite sampling, offset to account for retention time, was performed at a direct filtration DWTP in Montreal, Canada over a three-day period.
View Article and Find Full Text PDF