Dataset Information

Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging.

ABSTRACT: The purpose of this study is to evaluate the ability of quantitative magnetic resonance imaging (MRI) to discriminate between skin biopsies from individuals with osteogenesis imperfecta (OI) and skin biopsies from individuals without OI. Skin biopsies from nine controls (unaffected) and nine OI patients were imaged to generate maps of five separate MR parameters, T1, T2, km, MTR and ADC. Parameter values were calculated over the dermal region and used for univariate and multiparametric classification analysis. A substantial degree of overlap of individual MR parameters was observed between control and OI groups, which limited the sensitivity and specificity of univariate classification. Classification accuracies ranging between 39% and 67% were found depending on the variable of investigation, with T2 yielding the best accuracy of 67%. When several MR parameters were considered simultaneously in a multivariate analysis, the classification accuracies improved up to 89% for specific combinations, including the combination of T2 and km. These results indicate that multiparametric classification by quantitative MRI is able to detect differences between the skin of OI patients and of unaffected individuals, which motivates further study of quantitative MRI for the clinical diagnosis of OI.

SUBMITTER: Ashinsky BG

PROVIDER: S-EPMC4944933 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Osteogenesis imperfecta (imperfect osteogenesis in the Russian literature) is the most common hereditary form of bone fragility, it is a genetically and clinically heterogeneous disease with a wide range of clinical severity, often leading to disability from early childhood. It is based on genetic disorders leading to a violation of the structure of bone tissue, which leads to frequent fractures, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, renal impairment, hearing loss. Osteogenesis imperfecta occurs in both men and women, the disease is inherited in both autosomal dominant and autosomal recessive types, there are sporadic cases of the disease due to de novo mutations, as well as X-linked forms. The term "osteogenesis imperfecta" was coined by W. Vrolick in the 1840s. The first classification of the disease was made in 1979 and has been repeatedly reviewed due to the identification of the molecular cause of the disease and the discovery of new mechanisms for the development of osteogenesis imperfecta. In the early 1980s, mutations in two genes of collagen type I (COL1A1 and COL1A2) were first associated with an autosomal dominant inheritance type of osteogenesis imperfecta. Since then, 18 more genes have been identified whose products are involved in the formation and mineralization of bone tissue. The degree of genetic heterogeneity of the disease has not yet been determined, researchers continue to identify new genes involved in its pathogenesis, the number of which has reached 20. In the last decade, it has become known that autosomal recessive, autosomal dominant and X-linked mutations in a wide range of genes, encoding proteins that are involved in the synthesis of type I collagen, its processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells, cause imperfect osteogenesis. A large number of causative genes complicated the classical classification of the disease and, due to new advances in the molecular basis of the disease, the classification of the disease is constantly being improved. In this review, we systematized and summarized information on the results of studies in the field of clinical and genetic aspects of osteogenesis imperfecta and reflected the current state of the classification criteria for diagnosing the disease.

Project description:PurposeThe purpose of this work was to examine the suitability of VIPARnd polymer gel-9.4 T magnetic resonance microimaging system for high spatial resolution dose distribution measurements.MethodsThe VIPARnd samples (3 cm in outside diameter and 12 cm in height) were exposed to ionizing radiation by using a linear accelerator (Varian TrueBeam, USA; 6 MV x-ray beam). In the calibration stage, nine gel dosimeter vials were irradiated in a water phantom homogenously to the doses from 1.5 to 30 Gy in order to obtain R2-dose relation. In the verification stage, two gel dosimeter vials were irradiated in the half beam penumbra area of 10 × 10 cm radiation field using the amount of monitor units appropriate to deliver 20 Gy at the field center. The gels were imaged on a vertical 9.4 T magnetic resonance (MR) microimaging scanner using single slice and multislice (9 slices) multiecho (90 × 7 ms) sequences at the spatial resolutions of 0.2-0.4 × 0.2-0.4 × 3 mm3 and 0.2-0.4 × 0.2-0.4 × 1 mm3 respectively. The gels were subjected to microimaging during the period of two weeks after irradiation. The reference data consisted of the dose profiles measured using the diode dosimetry, radiochromic film, ionization chamber, and the water phantom system.ResultsThe VIPARnd -9.4 T MR microimaging system was characterized by the dose sensitivity of 0.067 ± 0.002 Gy-1 s-1 at day 3 after irradiation. The dose resolution at 10 Gy (at P = 95%) was equal to 0.42 Gy at day 3 after irradiation using a single slice sequence (0.2 × 0.2 × 3 mm3 ) and 2.0 Gy at day 4 after irradiation using a multislice sequence (0.2 × 0.2 × 1 mm3 ) for one signal acquisition (measurement time: 15 min). These values were improved by ~1.4-fold when using four signal acquisitions in the single slice sequence, and by ~2.78-fold for 12 signal acquisitions in the multislice sequence. Furthermore, decreasing the in-plane resolution from 0.2 × 0.2 mm2 to 0.4 × 0.4 mm2 resulted in a dose resolution of 0.3 Gy and 1 Gy at 10 Gy (at P = 95%) for one signal acquisition in the single slice and multislice sequences respectively (measurement time: 7.5 min). As reveals from the gamma index analysis the dose distributions measured at days 3-4 postirradiation using both VIPARnd verification phantoms agree with the data obtained using a silicon diode, assuming 1 mm/5% criterion. A good interphantom reproducibility of the polymer gel dosimetry was proved by monitoring of two phantoms up to 10 days after irradiation. However, the agreement between the dose distributions measured using the diode and polymer gel started to get worse from day 5 after irradiation.ConclusionThe VIPARnd -9.4T MR microimaging system allows to obtain dose resolution of 0.42 Gy at 10 Gy (at P = 95%) for a spatial resolution of 0.2 × 0.2 × 3 mm3 (acquisition time: 15 min). Further studies are required to improve a temporal stability of the gel-derived dose distribution.

Dataset Information

Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets