Context-based and human-centred information fusion in diagnostics

Maintenance management and engineering practice has progressed to adopt approaches which aim to reach maintenance decisions not by means of pre-specified plans and recommendations but increasingly on the basis of best contextually relevant available information and knowledge, all considered against stated objectives. Different methods for automating event detection, diagnostics and prognostics have been proposed, which may achieve very high performance when appropriately adapted and tuned to serve the needs of well defined tasks. However, the scope of such solutions is often narrow and without a mechanism to include human contributed intervention and knowledge contribution. This paper presents a conceptual framework of integrating automated detection and diagnostics and human contributed knowledge in a single architecture. This is instantiated by an e-maintenance platform comprising tools for both lower level information fusion as well as for handling higher level knowledge. Well structured maintenance relationships, such as those present in a typical FMECA study, as well as on the job human contributed compact knowledge are exploited to this end. A case study presenting the actual workflow of the process in an industrial setting is employed to pilot test the approach

Genomic Profiling of Smoldering Multiple Myeloma Identifies Patients at a High Risk of Disease Progression

PURPOSE: Smoldering multiple myeloma (SMM) is a precursor condition of multiple myeloma (MM) with a 10% annual risk of progression. Various prognostic models exist for risk stratification; however, those are based on solely clinical metrics. The discovery of genomic alterations that underlie disease progression to MM could improve current risk models. METHODS: We used next-generation sequencing to study 214 patients with SMM. We performed whole-exome sequencing on 166 tumors, including 5 with serial samples, and deep targeted sequencing on 48 tumors. RESULTS: We observed that most of the genetic alterations necessary for progression have already been acquired by the diagnosis of SMM. Particularly, we found that alterations of the mitogen-activated protein kinase pathway (KRAS and NRAS single nucleotide variants [SNVs]), the DNA repair pathway (deletion 17p, TP53, and ATM SNVs), and MYC (translocations or copy number variations) were all independent risk factors of progression after accounting for clinical risk staging. We validated these findings in an external SMM cohort by showing that patients who have any of these three features have a higher risk of progressing to MM. Moreover, APOBEC associated mutations were enriched in patients who progressed and were associated with a shorter time to progression in our cohort. CONCLUSION: SMM is a genetically mature entity whereby most driver genetic alterations have already occurred, which suggests the existence of a right-skewed model of genetic evolution from monoclonal gammopathy of undetermined significance to MM. We identified and externally validated genomic predictors of progression that could distinguish patients at high risk of progression to MM and, thus, improve on the precision of current clinical models

Heterotopic pregnancy at 16 weeks of gestation after in-vitro fertilization and embryo transfer

We present an heterotopic pregnancy at 16 weeks of gestation following IVF/ET treatment with the ectopic pregnancy located in the left fallopian tube. Intra-abdominal bleeding secondary to an heterotopic pregnancy, causing acute abdominal pain and hemorrhagic shock, should be included in the differential diagnosis even in the second trimester of pregnancy, especially in patients, achieving conception with the use of assisted reproduction techniques

Laparoscopic excision of an inflammatory myofibroblastic tumour of the bladder disguised as deep infiltrating endometriosis

Inflammatory myofibroblastic tumour (IMT) of the bladder is a rare tumour of indeterminate malignant potential with myofibroblastic differentiation, with a generally benign but rarely aggressive behaviour. Vesical IMT is usually treated by transurethral resection or partial cystectomy. Herein we describe a case of a woman who underwent laparoscopic excision of an IMT of the bladder, initially diagnosed as deep infiltrating endometriosis. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved