Gaucher disease (GD) is a genetic lysosomal disorder characterized by high bone marrow (BM) involvement and skeletal complications. The pathophysiology of these complications is not fully elucidated. ...Magnetic resonance imaging (MRI) is the gold standard to evaluate BM. This study aimed to apply machine-learning techniques in a cohort of Spanish GD patients by a structured bone marrow MRI reporting model at diagnosis and follow-up to predict the evolution of the bone disease. In total, 441 digitalized MRI studies from 131 patients (M: 69, F:62) were reevaluated by a blinded expert radiologist who applied a structured report template. The studies were classified into categories carried out at different stages as follows: A: baseline; B: between 1 and 4 y of follow-up; C: between 5 and 9 y; and D: after 10 years of follow-up. Demographics, genetics, biomarkers, clinical data, and cumulative years of therapy were included in the model. At the baseline study, the mean age was 37.3 years (1-80), and the median Spanish MRI score (S-MRI) was 8.40 (male patients: 9.10 vs. female patients: 7.71) (
< 0.001). BM clearance was faster and deeper in women during follow-up. Genotypes that do not include the c.1226A>G variant have a higher degree of infiltration and complications (
= 0.017). A random forest machine-learning model identified that BM infiltration degree, age at the start of therapy, and femur infiltration were the most important factors to predict the risk and severity of the bone disease. In conclusion, a structured bone marrow MRI reporting in GD is useful to standardize the collected data and facilitate clinical management and academic collaboration. Artificial intelligence methods applied to these studies can help to predict bone disease complications.
Bone effects are the most frequent cause of disability in Gaucher disease (GD). Magnetic resonance imaging (MRI) has improved the study of bone involvement making it possible to measure the extent of ...infiltration and to identify localized complications and other lesions. Here we describe the results of our analysis of all bone lesions registered in MRI studies performed in our GD Clinic.
A retrospective study was undertaken for all patients with types 1 and 3 GD who underwent MRI evaluation and correlated with clinical, molecular, and other follow-up information obtained from the Spanish GD Registry.
350 MRI studies of 131 GD patients were reviewed (males 53.4%). Mean age: 37.5years (range 13-74yr), 94.6% (124) were GD1 patients. 113/131 (86.3%) of patients presented with at least one bone effect (bone infiltration, bone crisis, avascular necrosis) were 79.4%, while 28.8% showed another bone lesion such as neuronopathic-like arthropathy, hemangioma, other ischemic phenomena, infection-related lesions, secondary neoplasia and tissue infiltration.
MRI is a routinely-used tool for the evaluation of GD lesions which improves the assessment of patients before and during therapy, identifies GD complications and finds other concomitant lesions. This work provides a new evaluation of MRI assessment in this complex rare disease.
Anatomical analysis of the hips and pelvis was performed using MRI to evaluate morphological characteristics and associations between them. We identified correlations between the ischiofemoral space ...(IFS), quadratus femoris space (QFS), femoral version angle (FVA) and cervicodiaphyseal angle (CDA).
This study involved a retrospective search of a database of consecutive reports of adult hip MRI examinations carried out between January and September 2016. Patients with a medical history likely to affect pelvic and hip morphometry were excluded.
A total of 137 adult patients were enrolled in the study (45.3% males and 54.7% females), with a mean age of 50.16 ± 13.87 years. The mean IFS was 20.88 ± 5.96 mm, mean QFS was 15.2 ± 6.18 mm, mean FVA was 12.43 ± 6.98, and mean CDA was 121.27 ± 4.6°. The IFS measurements were significantly correlated with femoral measurements (
= 0.025). These visible differences showed a slight negative relationship (-0.191), and females had a smaller distance between these anatomical structures than males (
< 0.001). Females had a significantly smaller QFS than males (12.42 ± 5.94
18.73 ± 4.48 mm,
= 0.000). There was a small but significant positive relationship between CDA and FVA (
= 0.022), with a correlation coefficient of 0.195.
A higher FVA was correlated with a smaller IFS. Furthermore, an increase in the CDA appeared in tandem with an increase in the FVA.
A single conventional MRI sequence can alert us to how anatomical factors could predispose individuals to a decrease in IFS.
BackgroundThere are multiple hematological and other entities (metastases, infections) that can affect the bone marrow (BM). The gold standard imaging technique for BM examination is magnetic ...resonance imaging (MRI). Technological advances have made it possible to digitalize image files and create applications that help to produce higher quality structured reports, facilitating the analysis of data and unifying the criteria collected, making it possible to fill an existing gap. The aim of this study is to present a structured report model applicable to BM studies by MRI. MethodsWe have carried out a systematic review following the recommendations of the PRISMA checklist report to explore previous publications applying structured BM MRI reporting. Eligibility criteria: the selection of articles carried out by MeSH thesaurus. Original or review articles of BM pathology assessed by MRI. Our group with a wide experience in the evaluation of BM by MRI have designed a model for BM report using eight items: demographic data, diagnostic suspicion, technical data, type of exam initial or control, distribution and patterns involvement, complications and location, total assessment comments. ResultsWe have not found articles that reflect the existence of a structured report of BM examination by MRI. Only one descriptive article has been identified on guidelines for acquisition, interpretation and reporting which refers to a single entity. With the selected parameters, a software has been developed that allows to fill in the sections of the structured report with ease and immediacy and to send the result directly to the clinician. DiscussionStructured reports are the result of applying a logical structure to the radiological report, and the rules of elaboration comprise several criteria: (I) using a uniform language. The standardization of terminology avoids ambiguity in reporting and makes it easier to compare reports. (II) Accurately describe the radiological findings, following a prescribed order with review questions and answers. (III) Drafting using diagnostic screening tables. (IV) Respect the radiologists' workflow by facilitating the work and not hindering it. The final report of this work has been the product of the clinical-radiological collaboration in our working group.
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