Nuclear and Mitochondrial DNA Polymorphisms in three parthenogenetic meloidogyne SPP

In order to expand our understanding of the genetics of root-knot nematodes, thevariation in nuclear DNA and mitochondrial DNA in Meloidogyne incognita, M.arenaria and M. javanica was investigated. Despite the obligate mitoticparthenogenetic mode of reproduction, a large number of AFLP polymorphismswere observed among all 16 populations studied. Both UPGMA and principlecoordinate analyses revealed three distinct groups that corresponded with therespective species identities of the 16 populations. M. incognita was geneticallymost distinct. Amplification of 63 bp tandem repeats (TR) in mtDNA from singleindividuals enabled the calculation of diversity measures at three hierarchicallevels: within individuals, among individuals of a single population and amongpopulations. For all three species, the highest diversity was observed withinindividuals explaining 43 to 65% of the total diversity. Many individualscontained more than one mtDNA size variant. M. incognita harboured the mostheteroplasmic individuals and was the most homogenous at the population level.Only 13% of the total diversity was observed among populations, while thisfigure was 35% for M. arenaria. Both TR and AFLP data showed that M.arenaria is the most heterogeneous species. The comparison of the geneticdistances based on AFLPs and mtDNA size variants revealed a significantcorrelation for the six M. arenaria populations, whereas no consistent correlationwas observed for the populations of the other two species

Sound absorbing glass: transparent solution for poor acoustics of monumental spaces

Monumental buildings are demolished when they lose their traditional function. These historical monuments can be maintained by repurposing them for modern use, like lectures and musical events. This results in a demand for different acoustic conditions. However, monuments are subject to strict building intervention regulations; any intervention concerning changes to the original elements are often prohibited. This creates a demand for demountable and adaptable product design, repurposing monumental buildings by alleviating acoustical problems without distorting the view towards the monumental elements. This research focused on developing sound absorption panels based on the micro-perforation principle: manufacturing these in thin glass panels, evaluating their influence on strength and transparency, optimizing sound absorption (perforation diameter and ratio) using a tailor-made computational model, and creating a pattern of perforations that optimizes strength

Sound absorbing glass: transparent solution for poor acoustics of monumental spaces

Monumental buildings are demolished when they lose their traditional function. These historical monuments can be maintained by repurposing them for modern use, like lectures and musical events. This results in a demand for different acoustic conditions. However, monuments are subject to strict building intervention regulations; any intervention concerning changes to the original elements are often prohibited. This creates a demand for demountable and adaptable product design, repurposing monumental buildings by alleviating acoustical problems without distorting the view towards the monumental elements. This research focused on developing sound absorption panels based on the micro-perforation principle: manufacturing these in thin glass panels, evaluating their influence on strength and transparency, optimizing sound absorption (perforation diameter and ratio) using a tailor-made computational model, and creating a pattern of perforations that optimizes strength

Ixodes ricinus ticks are reservoir hosts for Rickettsia helvetica and potentially carry flea-borne Rickettsia species

Rickettsia specie

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in suspected-LS patients. To conclusively diagnose LS and enroll patients in appropriate surveillance programs to reduce morbidity as well as mortality, the functional consequences of these variants of uncertain clinical significance (VUS) must be defined. We present an oligonucleotide-directed mutagenesis screen for the identification of pathogenic MSH6 VUS. In the screen, the MSH6 variant of interest is introduced into mouse embryonic stem cells by site-directed mutagenesis. Subsequent selection for MMR-deficient cells using the DNA damaging agent 6-thioguanine (6TG) allows the identification of MMR abrogating VUS because solely MMR-deficient cells survive 6TG exposure. We demonstrate the efficacy of the genetic screen, investigate the phenotype of 26 MSH6 VUS and compare our screening results to clinical data from suspected-LS patients carrying these variant alleles

More support for mothers: a qualitative study on factors affecting immunisation behaviour in Kampala, Uganda

<p>Abstract</p> <p>Background</p> <p>The proportion of Ugandan children who are fully vaccinated has varied over the years. Understanding vaccination behaviour is important for the success of the immunisation programme. This study examined influences on immunisation behaviour using the attitude-social influence-self efficacy model.</p> <p>Methods</p> <p>We conducted nine focus group discussions (FGDs) with mothers and fathers. Eight key informant interviews (KIIs) were held with those in charge of community mobilisation for immunisation, fathers and mothers. Data was analysed using content analysis.</p> <p>Results</p> <p>Influences on the mother's immunisation behaviour ranged from the non-supportive role of male partners sometimes resulting into intimate partner violence, lack of presentable clothing which made mothers vulnerable to bullying, inconvenient schedules and time constraints, to suspicion against immunisation such as vaccines cause physical disability and/or death.</p> <p>Conclusions</p> <p>Immunisation programmes should position themselves to address social contexts. A community programme that empowers women economically and helps men recognise the role of women in decision making for child health is needed. Increasing male involvement and knowledge of immunisation concepts among caretakers could improve immunisation.</p

Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC presented with metastatic renal cancer. We describe the patient and family data, evaluate current evidence on renal cancer risk and surveillance in HLRCC and consider the advantages and disadvantages of starting surveillance for renal cancer in childhood. We also discuss the targeted therapies administered to our patient

Common Limitations of Image Processing Metrics:A Picture Story

While the importance of automatic image analysis is continuously increasing, recent meta-research revealed major flaws with respect to algorithm validation. Performance metrics are particularly key for meaningful, objective, and transparent performance assessment and validation of the used automatic algorithms, but relatively little attention has been given to the practical pitfalls when using specific metrics for a given image analysis task. These are typically related to (1) the disregard of inherent metric properties, such as the behaviour in the presence of class imbalance or small target structures, (2) the disregard of inherent data set properties, such as the non-independence of the test cases, and (3) the disregard of the actual biomedical domain interest that the metrics should reflect. This living dynamically document has the purpose to illustrate important limitations of performance metrics commonly applied in the field of image analysis. In this context, it focuses on biomedical image analysis problems that can be phrased as image-level classification, semantic segmentation, instance segmentation, or object detection task. The current version is based on a Delphi process on metrics conducted by an international consortium of image analysis experts from more than 60 institutions worldwide.Comment: This is a dynamic paper on limitations of commonly used metrics. The current version discusses metrics for image-level classification, semantic segmentation, object detection and instance segmentation. For missing use cases, comments or questions, please contact [email protected] or [email protected]. Substantial contributions to this document will be acknowledged with a co-authorshi

Future-ai:International consensus guideline for trustworthy and deployable artificial intelligence in healthcare

Despite major advances in artificial intelligence (AI) for medicine and healthcare, the deployment and adoption of AI technologies remain limited in real-world clinical practice. In recent years, concerns have been raised about the technical, clinical, ethical and legal risks associated with medical AI. To increase real world adoption, it is essential that medical AI tools are trusted and accepted by patients, clinicians, health organisations and authorities. This work describes the FUTURE-AI guideline as the first international consensus framework for guiding the development and deployment of trustworthy AI tools in healthcare. The FUTURE-AI consortium was founded in 2021 and currently comprises 118 inter-disciplinary experts from 51 countries representing all continents, including AI scientists, clinicians, ethicists, and social scientists. Over a two-year period, the consortium defined guiding principles and best practices for trustworthy AI through an iterative process comprising an in-depth literature review, a modified Delphi survey, and online consensus meetings. The FUTURE-AI framework was established based on 6 guiding principles for trustworthy AI in healthcare, i.e. Fairness, Universality, Traceability, Usability, Robustness and Explainability. Through consensus, a set of 28 best practices were defined, addressing technical, clinical, legal and socio-ethical dimensions. The recommendations cover the entire lifecycle of medical AI, from design, development and validation to regulation, deployment, and monitoring. FUTURE-AI is a risk-informed, assumption-free guideline which provides a structured approach for constructing medical AI tools that will be trusted, deployed and adopted in real-world practice. Researchers are encouraged to take the recommendations into account in proof-of-concept stages to facilitate future translation towards clinical practice of medical AI