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  1. A proposed hierarchical fuzzy inference system for the diagnosis of arthritic diseases
    Lim CK, Yew KM, Ng KH, Abdullah BJ
    Australas Phys Eng Sci Med, 2002 Sep;25(3):144-50.
    PMID: 12416592 DOI: 10.1007/BF03178776
    Development of computer-based medical inference systems is always confronted with some difficulties. In this paper, difficulties of designing an inference system for the diagnosis of arthritic diseases are described, including variations of disease manifestations under various situations and conditions. Furthermore, the need for a huge knowledge base would result in low efficiency of the inference system. We proposed a hierarchical model of the fuzzy inference system as a possible solution. With such a model, the diagnostic process is divided into two levels. The first level of the diagnosis reduces the scope of diagnosis to be processed by the second level. This will reduce the amount of input and mapping for the whole diagnostic process. Fuzzy relational theory is the core of this system and it is used in both levels to improve the accuracy.
    Matched MeSH terms: Arthritis/diagnosis*
  2. Fulltext A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia
    Chu FC, Hii LY, Hung TH, Lo LM, Hsieh TT, Shaw SW
    Taiwan J Obstet Gynecol, 2021 Mar;60(2):359-362.
    PMID: 33678343 DOI: 10.1016/j.tjog.2021.01.017
    OBJECTIVE: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1.

    CASE REPORT: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction.

    CONCLUSION: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.

    Matched MeSH terms: Arthritis/diagnosis*
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