Osteogenesis Imperfecta in Children in the Russian Federation: Results of the Federal Registry Audit

Яхяева, Г. Т.; Намазова-баранова, Л. С.; Маргиева, Т. В.; Чумакова, О. В.

doi:10.15690/pf.v13i1.1514

Cited by 5 publications

(1 citation statement)

References 8 publications

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“…Previous studies showed that, amongst Polish OI patients ( n = 123), patients with OI types I, III, and IV comprised 44%, 33%, and 21% of the cohort, respectively (Rusinska et al, 2017). In a Russian pediatric study (including data from 31 regions of the Russian Federation), patients ( n = 117) were classified as follows: OI type I, 59%; type III, 27%; and type IV, 14% (Yakhyayeva et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

et al. 2019

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Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. In the current study, 94 Ukrainian OI families were interviewed. Clinical and genealogical information was collected from patients in spoken form, and their phenotypes were described. To identify the spectrum of collagen I pathogenic variants, COL1A1/2 mutational analysis with Sanger sequencing was performed on the youngest affected individual of every family. Of the 143 patients investigated, 67 (46.85%) had type I OI, 24 (16.78%) had type III, 49 (34.27%) had type IV, and III (2.10%) had type V. The mean number of fractures suffered per patient per year was 1.32 ± 2.88 (type I 0.50 ± 0.43; type III 3.51 ± 6.18; type IV 1.44 ± 1.77; and type 5 0.77 ± 0.23). 87.23% of patients had skeletal deformations of different severity. Blue sclera, dentinogenesis imperfecta, and hearing loss were present in 87%, 55%, and 22% of patients, respectively. COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first time. The majority of the pathogenic variants were located in the COL1A1 gene (76.19%). Half (49.21%) of the pathogenic variants were represented by structural variants. OI phenotype severity was highly correlated with type of collagen I defect. The current article presents an analysis of the clinical manifestations and COL1A1/2 mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants. It is hoped that this data and its analysis will contribute toward the increased understanding of the phenotype development and genetics of the disorder.

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Section: Discussionmentioning

confidence: 99%

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

et al. 2019

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The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Rapoport¹,

Bober

Raggio

et al. 2023

Orphanet J Rare Dis

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Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society. Methods A systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995–18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist. Results Of the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. Bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described. However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations. Conclusion Despite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.

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Comparative Characteristics of the Density of Periculpar Dentin in Permanent Intact Teeth in Healthy Children and in Children With Osteogenesis Imperfecta

Tsymlyanskaya

Shevchenko

Kiselnikova

et al. 2023

Actual Problems in Dentistry

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The article presents the results of studying the degree of mineralization of the peripulpal dentin in healthy children and in children with osteogenesis imperfecta according to the data of cone beam computed tomography. In teeth with malformations of heavy tissue tissues, in particular with imperfect osteogenesis, pathological changes are noted in the special enamel and dentin involved in teeth and root canals. The study of the observed characteristics of the distribution of peripulpal dentin in dangerous intact teeth and teeth with malformations of hard dental tissues is of great interest. Subject. Of the study is the degree of mineralization of the peripulpal dentin in permanent intact teeth in healthy children and in children with osteogenesis imperfecta. Objectives. The degree of mineralization of periculpar dentin in children with osteogenesis imperfecta and in healthy peers in permanent intact teeth according to cone-beam computed tomography. Methodology. The study was performed at the Department of Pediatric Dentistry and at the Department of Radiation Diagnostics of the Moscow State Medical University named after A.I. Evdokimov in the Department of X-ray and Radiation Diagnostics of the CCCHLPHIS Clinic of the Moscow State Medical University named after A.I. Evdokimov. The study involved 22 patients aged 7 to 14 years. Results. In the group of children with imperfect osteogenesis in permanent molars with completed root formation, obliteration of the tooth cavity and wide root canals are noted. In the group of healthy children with permanent intact molars, no expansion of the tooth cavity and root canals was noted, no signs of root canal obliteration were detected. The average density of dentin in permanent molars in the group of healthy children is significantly higher than in children suffering from osteogenesis imperfecta. Conclusions. Cone-beam computed tomography is an objective method of visualizing the teeth of both jaws, which allows with minimal radiation load and high accuracy to determine the density of periculpar dentin in permanent teeth in children in one study. Pronounced violations of the mineralization of hard tissues of teeth in children with osteogenesis imperfecta and require further study as the child grows up at the stages of dental rehabilitation.

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Osteogenesis Imperfecta in Children in the Russian Federation: Results of the Federal Registry Audit

Cited by 5 publications

References 8 publications

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Comparative Characteristics of the Density of Periculpar Dentin in Permanent Intact Teeth in Healthy Children and in Children With Osteogenesis Imperfecta

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