106 research outputs found

    An online belief rule-based group clinical decision support system

    Get PDF
    Around ten percent of patients admitted to National Health Service (NHS) hospitals have experienced a patient safety incident, and an important reason for the high rate of patient safety incidents is medical errors. Research shows that appropriate increase in the use of clinical decision support systems (CDSSs) could help to reduce medical errors and result in substantial improvement in patient safety. However several barriers continue to impede the effective implementation of CDSSs in clinical settings, among which representation of and reasoning about medical knowledge particularly under uncertainty are areas that require refined methodologies and techniques. Particularly, the knowledge base in a CDSS needs to be updated automatically based on accumulated clinical cases to provide evidence-based clinical decision support. In the research, we employed the recently developed belief Rule-base Inference Methodology using the Evidential Reasoning approach (RIMER) for design and development of an online belief rule-based group CDSS prototype. In the system, belief rule base (BRB) was used to model uncertain clinical domain knowledge, the evidential reasoning (ER) approach was employed to build inference engine, a BRB training module was developed for learning the BRB through accumulated clinical cases, and an online discussion forum together with an ER-based group preferences aggregation tool were developed for providing online clinical group decision support.We used a set of simulated patients in cardiac chest pain provided by our research collaborators in Manchester Royal Infirmary to validate the developed online belief rule-based CDSS prototype. The results show that the prototype can provide reliable diagnosis recommendations and the diagnostic performance of the system can be improved significantly after training BRB using accumulated clinical cases.EThOS - Electronic Theses Online ServiceManchester Business SchoolGBUnited Kingdo

    A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

    Get PDF
    BACKGROUND: The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians. METHODS: In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes Ξ± -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells. RESULTS: The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highly conserved zona pellucida (ZP) domain of Ξ±-tectorin. The mutation is not found in control subjects from the same family with normal hearing and a genotype-phenotype correlation is observed. CONCLUSION: A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. Our result indicated that mutation in TECTA gene is responsible for the hearing loss in this Mongolian family

    Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene

    Get PDF
    Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern. Here, we have presented clinically significant results describing two novel mutations of CHRND gene: NM_000751.2: c.1006C>T p.(Arg336Ter) and NM_000751.2:c.973_975delGTG p.(Val325del), and measurement of the facial angle for determining micrognathia by prenatal diagnosis in the first trimester of pregnancy for a Lethal multiple pterygium syndrome case. In conclusion, this report complements the spectrum of genetic variants and phenotype of Lethal multiple pterygium syndrome and provides reliable recommendation for the counseling of future pregnancies in families with the disease

    Arabidopsis CPR5 Independently Regulates Seed Germination and Postgermination Arrest of Development through LOX Pathway and ABA Signaling

    Get PDF
    The phytohormone abscisic acid (ABA) and the lipoxygenases (LOXs) pathway play important roles in seed germination and seedling growth and development. Here, we reported on the functional characterization of Arabidopsis CPR5 in the ABA signaling and LOX pathways. The cpr5 mutant was hypersensitive to ABA in the seed germination, cotyledon greening and root growth, whereas transgenic plants overexpressing CPR5 were insensitive. Genetic analysis demonstrated that CPR5 gene may be located downstream of the ABI1 in the ABA signaling pathway. However, the cpr5 mutant showed an ABA independent drought-resistant phenotype. It was also found that the cpr5 mutant was hypersensitive to NDGA and NDGA treatment aggravated the ABA-induced delay in the seed germination and cotyledon greening. Taken together, these results suggest that the CPR5 plays a regulatory role in the regulation of seed germination and early seedling growth through ABA and LOX pathways independently
    • …
    corecore