Etiopathogenesis of adolescent idiopathic scoliosis: Review of the literature and new epigenetic hypothesis on altered neural crest cells migration in early embryogenesis as the key event

Зайдман, А. М.; Строкова, Е. Л.; Pahomova, N. Y.; Gusev, A. F.; Mikhaylovskiy, Mikhail; Shevchenko, Alexander I.; Zaidman, Michael; Shilo, Andrey R.; Субботин, Владимир

doi:10.1016/j.mehy.2021.110585

Cited by 18 publications

(13 citation statements)

References 187 publications

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“…Age was an independent risk factor for scoliotic curve progression. The molecular mechanisms involved in the pathogenesis and development of AIS have been the subject of many research studies; however, the etiology remains an enigma [ 5 , 32 , 33 ]. For example, low BMI has been associated with AIS and it is hypothesized that this association may be related to the pathogenesis of the disease [ 34 – 38 ].…”

Section: Discussionmentioning

confidence: 99%

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study

Azevedo

Perini

Araújo

et al. 2022

BMC Musculoskelet Disord

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Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility. This study aimed to evaluate the potential role of the FBN1 rs12916536 polymorphism in AIS development or severity and the variation in Cobb angle in relation to patient’s characteristics. Methods DNA from 563 subjects (185 AIS patients and 378 controls) were genotyped using a validated TaqMan allelic discrimination assay. A multivariate logistic regression model evaluated the association between polymorphism and AIS, using the adjusted odds ratios (OR) with their respective 95% confidence intervals (95% CI). A linear regression analysis evaluated the variation in Cobb angle according to the patient’s age and body mass index (BMI). Results Among the AIS group there was a predominance of females (12:1), low or normal BMI (90%), 58% had a Cobb angle greater than 45° and 74% were skeletally mature. Age was a risk factor (4-fold) for curve progression higher than BMI (P < 0.001). The allelic frequency of the rs12916536 G > A polymorphism was 40% in controls and 31% in AIS cases; and this difference was statistically significant (P = 0.004). FBN1 rs12916536 GA + AA genotypes were associated with a lower risk of AIS susceptibility (OR = 0.58 and 95% CI = 0.35–0.98), after adjustment for age, sex and BMI. However, no significant differences were detected in polymorphism distribution with the severity of the disease (Cobb < 45° or ≥ 45°). Conclusion Age was a risk factor for progression of the scoliotic curve and FBN1 rs12916536 polymorphism a protective factor for AIS susceptibility.

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Section: Discussionmentioning

confidence: 99%

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study

Azevedo

Perini

Araújo

et al. 2022

BMC Musculoskelet Disord

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“…The effect of ractopamine was used for the protective effect of Parkinson’s disease, therefore great challenge and carefully designed investigations on this topic are necessary for the future. Zaydman et al [ 12 ] proposed that epigenetic factors play a causal role in the health hypothesis.…”

Section: Literature Surveymentioning

confidence: 99%

Artificial intelligence based health indicator extraction and disease symptoms identification using medical hypothesis models

Kumar¹,

Routray

Prabu

et al. 2022

Cluster Comput

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Patient health record analysis models assist the medical field to understand the current stands and medical needs. Similarly, collecting and analyzing the disease features are the best practice for encouraging medical researchers to understand the research problems. Various research works evolve the way of medical data analysis schemes to know the actual challenges against the diseases. The computer-based diagnosis models and medical data analysis models are widely applied to have a better understanding of different diseases. Particularly, the field of medical electronics needs appropriate health indicator extraction models in near future. The existing medical schemes support baseline solutions but lack optimal hypothesis-based solutions. This work describes the optimal hypothesis model and Akin procedures for health record users, to aid health sectors in clinical decision-making on health indications. This work proposes Medical Hypothesis and Health Indicators Extraction from Electronic Medical Records (EMR) and International Classification of Diseases (ICD-10) patient examination database using the Akin Method and Friendship method. In this Health Indicators and Disease Symptoms Extraction (HIDSE), the evidence checking procedures find and collect all possible medical evidence from the existing patient examination report. Akin Method is making the hypothesis decision from count-based evidence principles. The health indicators extraction scheme extracts all relevant information based on the health indicators query and partial input. Similarly, the friendship method is used for making information associations between medical data attributes. This Akin-Friendship model helps to build hypothesis structures and trait-based feature extraction principles. This is called as Composite Akin Friendship Model (CAFM). This proposed model consists of various test cases for developing the medical hypothesis systems. On the other hand, it provides limited accuracy in disease classification. In this regard, the proposed HIDSE implements Deep Learning (DL) based Akin Friendship Method (DLAFM) for improving the accuracy of this medical hypothesis model. The proposed DLAFM, Convolutional Neural Networks (CNN) associated Legacy Prediction Model for Health Indicator (LPHI) is developed to tune the CAFM principles. The results show the proposed health indicator extraction scheme has 8–10% of better system performance than other existing techniques.

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“…The observation of discordant curve type and curve severity on monozygotic twins implies the significant role of non-genetic factors in AIS pathogenesis 3 . In the past decade, genome-wide associations studies (GWAS) have reported hundreds of AIS susceptibility loci 4 . Subsequent functional studies revealed role of these genes in etiopathology of AIS, such as ladybird homeobox 1 ( LBX1 ) in paraspinal muscle 5 – 8 .…”

Section: Introductionmentioning

confidence: 99%

Upregulation of microRNA-96-5p is associated with adolescent idiopathic scoliosis and low bone mass phenotype

Chen

Yang

Zhang

et al. 2022

Sci Rep

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Bone densitometry revealed low bone mass in patients with adolescent idiopathic scoliosis (AIS) and its prognostic potential to predict curve progression. Recent studies showed differential circulating miRNAs in AIS but their diagnostic potential and links to low bone mass have not been well-documented. The present study aimed to compare miRNA profiles in bone tissues collected from AIS and non-scoliotic subjects, and to explore if the selected miRNA candidates could be useful diagnostic biomarkers for AIS. Microarray analysis identified miR-96-5p being the most upregulated among the candidates. miR-96-5p level was measured in plasma samples from 100 AIS and 52 healthy girls. Our results showed significantly higher plasma levels of miR-96-5p in AIS girls with an area under the curve (AUC) of 0.671 for diagnostic accuracy. A model that was composed of plasma miR-96-5p and patient-specific parameters (age, body weight and years since menarche) gave rise to an improved AUC of 0.752. Ingenuity Pathway Analysis (IPA) indicated functional links between bone metabolic pathways and miR-96-5p. In conclusion, differentially expressed miRNAs in AIS bone and plasma samples represented a new source of disease biomarkers and players in AIS etiopathogenesis, which required further validation study involving AIS patients of both genders with long-term follow-up.

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Etiopathogenesis of adolescent idiopathic scoliosis: Review of the literature and new epigenetic hypothesis on altered neural crest cells migration in early embryogenesis as the key event

Cited by 18 publications

References 187 publications

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study

Artificial intelligence based health indicator extraction and disease symptoms identification using medical hypothesis models

Upregulation of microRNA-96-5p is associated with adolescent idiopathic scoliosis and low bone mass phenotype

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