scholarly journals Sclerostin and Its Involvement in the Pathogenesis of Idiopathic Scoliosis

2021 ◽  
Vol 10 (22) ◽  
pp. 5286
Author(s):  
Elias S. Vasiliadis ◽  
Dimitrios Stergios Evangelopoulos ◽  
Angelos Kaspiris ◽  
Christos Vlachos ◽  
Spyros G. Pneumaticos
Keyword(s):  
Idiopathic Scoliosis ◽  
Signaling Pathway ◽  
Molecular Level ◽  
Bone Mineralization ◽  
Spinal Column ◽  
Normal Function ◽  
Unknown Etiology ◽  
Normal Bone ◽  
Scoliotic Deformity ◽  
Bone Biopsies

Idiopathic scoliosis is a disorder of unknown etiology. Bone biopsies from idiopathic scoliosis patients revealed changes at cellular and molecular level. Osteocytic sclerostin is downregulated, and serum level of sclerostin is decreased. Osteocytes in idiopathic scoliosis appear to be less active with abnormal canaliculi network. Differentiation of osteoblasts to osteocytes is decelerated, while Wnt/β-catenin signaling pathway is overactivated and affects normal bone mineralization that leads to inferior mechanical properties of the bone, which becomes susceptible to asymmetrical forces and causes deformity of the spinal column. Targeting bone metabolism during growth by stimulating sclerostin secretion from osteocytes and restoring normal function of Wnt/β-catenin signaling pathway could, in theory, increase bone strength and prevent deterioration of the scoliotic deformity.

Lack of Histological Evidence of Vitamin D Abnormality in the Bones of Anephric Patients

1973 ◽  
Vol 44 (1) ◽  
pp. 33-41 ◽  
Author(s):  
PH. J. Bordier ◽  
S. Tun Chot ◽  
J. B. Eastwood ◽  
A. Fournier ◽  
H. E. De Wardener
Keyword(s):  
Vitamin D ◽  
Bone Mineralization ◽  
Iliac Bone ◽  
Bilateral Nephrectomy ◽  
Histological Evidence ◽  
Normal Bone ◽  
Bone Biopsies ◽  
Anephric Patients

1. Iliac bone biopsies were obtained from nine patients 3 months to 6 years after bilateral nephrectomy. 2. In eight of the nine patients no histological evidence of vitamin D abnormality was seen in the bones after bilateral nephrectomy. 3. One patient showed histological evidence of osteomalacia before bilateral nephrectomy which improved but did not disappear after bilateral nephrectomy. 4. The biospies of all nine patients showed evidence of hyperparathyroidism. 5. It is concluded that normal bone mineralization can take place in the absence of the kidneys.

scholarly journals Distribution of strontium and mineralization in iliac bone biopsies from osteoporotic women treated long-term with strontium ranelate

2011 ◽  
Vol 165 (3) ◽  
pp. 469-476 ◽  
Author(s):  
Audrey Doublier ◽  
Delphine Farlay ◽  
Mohamed T Khebbab ◽  
Xavier Jaurand ◽  
Pierre J Meunier ◽  
...  
Keyword(s):  
Bone Mineralization ◽  
Progressive Increase ◽  
Tissue Level ◽  
Term Treatment ◽  
Iliac Bone ◽  
X Ray ◽  
Long Term Treatment ◽  
Bone Biopsies

ObjectiveTo investigate interactions between strontium (Sr) and bone mineral and its effects on mineralization in osteoporotic women treated long-term with Sr ranelate (SrRan).DesignIn this study, 34 iliac bone biopsies were analyzed after 2, 12, 24, 36, 48, and 60 months of treatment with SrRan.MethodsSr global distribution was analyzed by X-ray cartography and the percentage of bone area containing Sr was calculated in the bone samples. The focal distribution of Sr in all bone samples was investigated by X-ray microanalysis. The degree of mineralization was assessed by quantitative microradiography.ResultsAbsent from old bone formed before the beginning of treatment, Sr was exclusively present in bone formed during this treatment with a much higher focal Sr content in new bone structural units than in old ones. A progressive increase in the extent of areas containing Sr was observed during treatment. The focal bone Sr content in recently formed bone was constant over treatment. Secondary mineralization was maintained at a normal level during treatment.ConclusionThus, the quality of bone mineralization (density and heterogeneity at tissue level) was preserved after a long-term treatment with SrRan.

scholarly journals Comparative transcriptome analysis identifies CARM1 and DNMT3A as genes associated with osteoporosis

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Layla Panach ◽  
Clara Pertusa ◽  
Beatriz Martínez-Rojas ◽  
Álvaro Acebrón ◽  
Damián Mifsut ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Transcriptome Analysis ◽  
Hip Replacement ◽  
Bone Mineralization ◽  
System Development ◽  
Close Association ◽  
Wnt Signaling Pathway ◽  
Bmp Signaling ◽  
Replacement Surgery ◽  
Hip Replacement Surgery

Abstract To identify new candidate genes in osteoporosis, mainly involved in epigenetic mechanisms, we compared whole gene-expression in osteoblasts (OBs) obtained from women undergoing hip replacement surgery due to fragility fracture and severe osteoarthritis. Then, we analyzed the association of several SNPs with BMD in 1028 women. Microarray analysis yielded 2542 differentially expressed transcripts belonging to 1798 annotated genes, of which 45.6% (819) were overexpressed, and 54.4% (979) underexpressed (fold-change between − 7.45 and 4.0). Among the most represented pathways indicated by transcriptome analysis were chondrocyte development, positive regulation of bone mineralization, BMP signaling pathway, skeletal system development and Wnt signaling pathway. In the translational stage we genotyped 4 SNPs in DOT1L, HEY2, CARM1 and DNMT3A genes. Raw data analyzed against inheritance patterns showed a statistically significant association between a SNP of DNMT3A and femoral neck-(FN) sBMD and primarily a SNP of CARM1 was correlated with both FN and lumbar spine-(LS) sBMD. Most of these associations remained statistically significant after adjusting for confounders. In analysis with anthropometric and clinical variables, the SNP of CARM1 unexpectedly revealed a close association with BMI (p = 0.000082), insulin (p = 0.000085), and HOMA-IR (p = 0.000078). In conclusion, SNPs of the DNMT3A and CARM1 genes are associated with BMD, in the latter case probably owing to a strong correlation with obesity and fasting insulin levels.

scholarly journals Mice with Hypomorphic Expression of the Sodium-Phosphate Cotransporter PiT1/Slc20a1 Have an Unexpected Normal Bone Mineralization

PLoS ONE ◽  
2013 ◽  
Vol 8 (6) ◽  
pp. e65979 ◽  
Author(s):  
Annabelle Bourgine ◽  
Paul Pilet ◽  
Sara Diouani ◽  
Sophie Sourice ◽  
Julie Lesoeur ◽  
...  
Keyword(s):  
Sodium Phosphate ◽  
Bone Mineralization ◽  
Normal Bone

scholarly journals Expression Signatures of Long Noncoding RNAs in Adolescent Idiopathic Scoliosis

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Xiao-Yang Liu ◽  
Liang Wang ◽  
Bin Yu ◽  
Qian-yu Zhuang ◽  
Yi-Peng Wang
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Acid Metabolism ◽  
Bone Mineralization ◽  
Noncoding Rnas ◽  
Long Noncoding Rnas ◽  
Differentially Expressed ◽  
Nucleic Acid Metabolism ◽  
Healthy Children ◽  
Healthy Control

Purpose. Adolescent idiopathic scoliosis (AIS), the most common pediatric spinal deformity, is considered a complex genetic disease. Causing genes and pathogenesis of AIS are still unclear. This study was designed to identify differentially expressed long noncoding RNAs (lncRNAs) involving the pathogenesis of AIS.Methods. We first performed comprehensive screening of lncRNA and mRNA in AIS patients and healthy children using Agilent human lncRNA + mRNA Array V3.0 microarray. LncRNAs expression in different AIS patients was further evaluated using quantitative PCR.Results. A total of 139 lncRNAs and 546 mRNAs were differentially expressed between AIS patients and healthy control. GO and Pathway analysis showed that these mRNAs might be involved in bone mineralization, neuromuscular junction, skeletal system morphogenesis, nucleotide and nucleic acid metabolism, and regulation of signal pathway. Four lncRNAs (ENST00000440778.1, ENST00000602322.1, ENST00000414894.1, and TCONS_00028768) were differentially expressed between different patients when grouped according to age, height, classification, severity of scoliosis, and Risser grade.Conclusions. This study demonstrates the abnormal expression of lncRNAs and mRNAs in AIS, and the expression of some lncRNAs was related to clinical features. This study is helpful for further understanding of lncRNAs in pathogenesis, treatment, and prognosis of AIS.

scholarly journals Psychological aspects of treatment and rehabilitation of patients with adolescent idiopathic scoliosis: research analysis

2019 ◽  
Vol 7 (2) ◽  
pp. 103-115
Author(s):  
Galina V. Pyatakova ◽  
Olga V. Okoneshnikova ◽  
Anastasia O. Kozhevnikova ◽  
Sergei V. Vissarionov
Keyword(s):  
Quality Of Life ◽  
Chronic Disease ◽  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Psychological Aspects ◽  
Unknown Etiology ◽  
Modern Approach ◽  
Psychological Component ◽  
Surgical Methods

Idiopathic scoliosis is a common orthopedic disease of unknown etiology in childhood that limits the patient’s activity for a lifetime. Treatment of idiopathic scoliosis includes both conservative and surgical methods and requires psychological consideration, which is important for the rehabilitation of patient with chronic disease. Systematic research on the psychological aspects of the treatment and rehabilitation of patients with idiopathic scoliosis in the form of analysis allows us to evaluate the medical and psychological approaches to the problem and to identify the factors contributing to the successful adaptation of the patient to chronic disease situation. Methodology. We selected the articles related to the psychological aspects of scoliosis and its treatment between 2017 and 2018. The primary selection included 16 publications, of which 2 were survey studies. Earlier foreign and domestic publications were also included in the analysis in order to compare the changes in treatment and rehabilitation approaches. Literature analysis. Idiopathic scoliosis was considered as a risk factor for psychological discomfort in the forms of stress, negative emotions, anxiety, distortion of the image of “I,” reduced self-esteem, and communication problems. These increase the risk of mental disorders, such as depression, suicidal tendencies, and psychological disadaptation. Discussion. Analysis allows us to highlight the most important topics in the studies of adolescent idiopathic scoliosis in recent years: topic on mental health/ill health in adolescent idiopathic scoliosis (AIS), theme of the psychological component of pain, topic on clinical psychological and social psychological factors that determine the course of the disease of the patients with AIS, quality of life of a child or adolescent with AIS, issues of psychological resources for adaptation to a chronic disease, topic on parents’ perception of their child’s illness, and topic on the psychological accompaniment of patients suffering from AIS. Conclusions. A modern approach to the study of idiopathic scoliosis suggests a point of view from a biopsychosocial model of the disease; therefore, it is necessary to consider various factors affecting the patient’s quality of life, including the psychological component of the disease. Psychological support of the treatment should focus on the formation of the patient’s active position in relation to his or her own life and active coping strategies with chronic disease.

scholarly journals Automation analysis X-ray of the spine to objectify the assessment of the severity of scoliotic deformity in idiopathic scoliosis: a preliminary report

2020 ◽  
Vol 8 (3) ◽  
pp. 317-326
Author(s):  
Grigory A. Lein ◽  
Natalia S. Nechaeva ◽  
Gulnar М. Mammadova ◽  
Andrey A. Smirnov ◽  
Maxim M. Statsenko
Keyword(s):  
Neural Network ◽  
Idiopathic Scoliosis ◽  
Cobb Angle ◽  
Machine Learning Algorithms ◽  
Automated System ◽  
X Rays ◽  
X Ray ◽  
Scoliotic Deformity ◽  
Window Method ◽  
Treatment Type

Background. A large number of studies have focused on automating the process of measuring the Cobb angle. Although there is no practical tool to assist doctors with estimating the severity of the curvature of the spine and determine the best suitable treatment type. Aim. We aimed to examine the algorithms used for distinguishing vertebral column, vertebrae, and for building a tangent on the X-ray photographs. The superior algorithms should be implemented into the clinical practice as an instrument of automatic analysis of the spine X-rays in scoliosis patients. Materials and methods. A total of 300 digital X-rays of the spine of children with idiopathic scoliosis were gathered. The X-rays were manually ruled by a radiologist to determine the Cobb angle. This data was included into the main dataset used for training and validating the neural network. In addition, the Sliding Window Method algorithm was implemented and compared with the machine learning algorithms, proving it to be vastly superior in the context of this research. Results. This research can serve as the foundation for the future development of an automated system for analyzing spine X-rays. This system allows processing of a large amount of data for achieving 85% in training neural network to determine the Cobb angle. Conclusions. This research is the first step toward the development of a modern innovative product that uses artificial intelligence for distinguishing the different portions of the spine on 2D X-ray images for building the lines required to determine the Cobb angle.

scholarly journals Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Anjumanara Anver Omar ◽  
Salman Ahmed ◽  
John Chris Rodrigues ◽  
Allan Kayiza ◽  
Lawrence Owino
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Signaling Pathway ◽  
Joint Stiffness ◽  
Unknown Etiology ◽  
Rheumatology Clinic ◽  
Case Presentation ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
History Of ◽  
Spondyloepimetaphyseal Dysplasia ◽  
Chronic Rheumatic Disease

Abstract Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. Case presentation A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. Conclusion Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.

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