PubMed日本語 - 家族性のまたはSporadic Idiopathic Scoliosis-人工のニューラル・ネットワークとGAPDHとACTB移行プロフィールに基づく分類。―QLifePro医療翻訳医療翻訳 QLifePro


Familial or Sporadic Idiopathic Scoliosis -- classification based on artificial neural network and GAPDH and ACTB transition profile.

家族性のまたはSporadic Idiopathic Scoliosis-人工のニューラル・ネットワークとGAPDHとACTB移行プロフィールに基づく分類。

Published date



Biomed Eng Online. 2013; 12; 1;


Tomasz Waller, Roman Nowak, Magdalena Tkacz, Damian Zapart, Urszula Mazurek



ABSTRACT: BACKGROUND: Importance of hereditary factors in the etiology of Idiopathic Scoliosis is widely accepted. In clinical practice some of the IS patients present with positive familial history of the deformity and some do not. Traditionally about 90% of patients have been considered as sporadic cases without familial recurrence. However the exact proportion of Familial and Sporadic Idiopathic Scoliosis is still unknown. Housekeeping genes encode proteins that are usually essential for the maintenance of basic cellular functions. ACTB and GAPDH are two housekeeping genes encoding respectively a cytoskeletal protein beta-actin, and glyceraldehyde-3-phosphate dehydrogenase, an enzyme of glycolysis. Although their expression levels can fluctuate between different tissues and persons, human housekeeping genes seem to exhibit a preserved tissue-wide expression ranking order. It was hypothesized that expression ranking order of two representative housekeeping genes ACTB and GAPDH might be disturbed in the tissues of patients with Familial Idiopathic Scoliosis (with positive family history of idiopathic scoliosis) opposed to the patients with no family members affected (Sporadic Idiopathic Scoliosis). An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. The aim of the study was to investigate whether the expression levels of ACTB and GAPDH in different tissues of idiopathic scoliosis patients could be used as a source of data for specially developed artificial neural network in order to predict the positive family history of index patient RESULTS: The comparison of developed models showed, that the most satisfactory classification accuracy was achieved for ANN model with 18 nodes in the first hidden layer and 16 nodes in the second hidden layer. The classification accuracy for positive Idiopathic Scoliosis anamnesis only with the expression measurements of ACTB and GAPDH with the use of ANN based on 6-18-16-1 architecture was 8 of 9 (88 %). Only in one case the prediction was ambiguous. CONCLUSIONS: Specially designed artificial neural network model proved possible association between expression level of ACTB, GAPDH and positive familial history of Idiopathic Scoliosis.


要旨背景Idiopathic Scoliosisの病因における遺伝要因の重要性は、広く受け入れられる。
しかしながら、FamilialとSporadic Idiopathic Scoliosisの正確な比率は、まだ知られていない。
2つの代表的なハウスキーピング遺伝子ACTBとGAPDHの順序にランクを付けている発現が影響を受ける(散発性Idiopathic Scoliosis)家族なしで患者に反対のFamilial Idiopathic Scoliosis(特発性側湾の陽性家族歴で)を有する患者の組織のじゃまをするかもしれないと仮定された。
ACTBの発現測定と6-18-16-1建築に基づくANNを用いたGAPDHによるだけ陽性Idiopathic Scoliosis既往症のための分類精度は、9のうちの8(88%)であった。
結論:特別に設計された人工の神経ネットワークモデルは、ACTB、GAPDHとIdiopathic Scoliosisの陽性家族性の既往歴の発現レベルの間の可能性がある関係を証明した。

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