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1.
J Orthop Surg Res ; 19(1): 305, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38769508

ABSTRACT

BACKGROUND: It is beneficial for society to discover the risk factors associated with surgery and to carry out some early interventions for patients with these risk factors. Few studies specifically explored the relationship between bone marrow lesions (BMLs) and long-term incident joint surgery. OBJECTIVE: To investigate the association between BML severity observed in knee osteoarthritis (OA) patients' first MRI examination and incident knee surgery within 5 years. Additionally, to assess the predictive value of BMLs for the incident knee surgery. DESIGN: Retrospective cohort study. METHODS: We identified patients diagnosed with knee OA and treated at our institution between January 2015 and January 2018, and retrieved their baseline clinical data and first MRI examination films from the information system. Next, we proceeded to determine the Max BML grades, BML burden grades and Presence BML grades for the medial, lateral, patellofemoral, and total compartments, respectively. Multi-variable logistic regression models examined the association of the BML grades with 5-year incident knee surgery. Positive and negative predictive values (PPVs and NPVs) were determined for BML grades referring to 5-year incident knee surgery. RESULTS: Totally, 1011 participants (knees) were found eligible to form the study population. Within the 5 years, surgery was performed on 74 knees. Max BML grade 2 and grade 3 of medial, patellofemoral and total compartments were strongly and significantly associated with incident surgery. None of the BML grades from lateral compartment was associated with incident surgery. The PPV was low and NPV was high for BMLs. CONCLUSIONS: BMLs found in the first MRI examination were associated with 5-year incident joint surgery, except for those allocated in lateral compartments. The high NPVs imply that patients without BMLs have a low risk of requiring surgery within 5 years.


Subject(s)
Bone Marrow , Magnetic Resonance Imaging , Osteoarthritis, Knee , Humans , Osteoarthritis, Knee/surgery , Osteoarthritis, Knee/diagnostic imaging , Osteoarthritis, Knee/pathology , Retrospective Studies , Male , Female , Middle Aged , Aged , Bone Marrow/diagnostic imaging , Bone Marrow/pathology , Cohort Studies , Time Factors , Risk Factors , Knee Joint/diagnostic imaging , Knee Joint/surgery , Knee Joint/pathology , Bone Marrow Diseases/diagnostic imaging , Bone Marrow Diseases/etiology , Bone Marrow Diseases/pathology , Arthroplasty, Replacement, Knee/methods , Severity of Illness Index
2.
Br J Radiol ; 97(1154): 422-429, 2024 Feb 02.
Article in English | MEDLINE | ID: mdl-38308029

ABSTRACT

OBJECTIVES: To distinguish bone metastases (BMs) from benign red marrow depositions (BRMs) by qualitative and quantitative analyses of T1-weighted imaging and fat-suppressed T2-weighted imaging (T2 FS). METHODS: For 75 lesions including 38 BMs and 37 BRMs, two radiologists independently evaluated magnetic resonance images by qualitative (signal intensity [SI] of lesions compared to that of normal muscle [NM] or normal bone marrow [NBM]) and quantitative (parameters of the region of interests in the lesions, including T1 ratio [T1 SI ratio of lesion and NM], T2FMu ratio [T2 FS SI ratio of lesion and NM], and T2FMa ratio [T2 FS SI ratio of lesion and NBM]) analyses. RESULTS: Hyperintensity relative to NM or NBM on T2 FS was more frequent in BMs than in BRMs (100% vs 59.5%-78.4%, respectively; P ≤ 0.001) but also was present in more than half of BRMs. All quantitative parameters showed a significant difference between BMs and BRMs (T1 ratio, 1.075 vs 1.227 [P = 0.002]; T2FMu ratio, 2.094 vs 1.282 [P < 0.001]; T2FMa ratio, 3.232 vs 1.810 [P < 0.001]). The receiver operating characteristics areas under the curves of T2FMu and T2FMa ratios were clinically useful (0.781 and 0.841, respectively) and did not demonstrate statistically significant differences. CONCLUSIONS: The quantitative analysis of T2 FS facilitates distinguishing between BMs and BRMs, regardless of whether the reference was NM or NBM. ADVANCES IN KNOWLEDGE: Quantitative parameters derived from T2 FS facilitate differentiation of BMs BRMs without additional scans. The role of NBM as an internal standard for T2 FS to differentiate between BMs and BRMs is similar to that of NM.


Subject(s)
Bone Marrow Diseases , Bone Neoplasms , Humans , Bone Marrow/diagnostic imaging , Bone Marrow/pathology , Bone Marrow Diseases/diagnostic imaging , Bone Marrow Diseases/pathology , Magnetic Resonance Imaging/methods , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/pathology , ROC Curve
3.
Leuk Res ; 137: 107441, 2024 02.
Article in English | MEDLINE | ID: mdl-38301422

ABSTRACT

Inherited bone marrow failure syndromes and germline predisposition syndromes (IBMFS/GPS) are associated with increased risk for hematologic malignancies, particularly myeloid neoplasms, such as myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). The diagnosis of MDS in these syndromes poses difficulty due to frequent bone marrow hypocellularity and the presence of some degree of dysplastic features related to the underlying germline defect causing abnormal maturation of one or more cell lines. Yet, the diagnosis of MDS is usually associated with a worse outcome in several IBMFS/GPS. Criteria for the diagnosis of MDS in IBMFS/GPS have not been standardized with some authors suggesting a mixture of morphologic, cytogenetic, and genetic criteria. This review highlights these challenges and suggests a more standardized approach to nomenclature and diagnostic criteria.


Subject(s)
Bone Marrow Diseases , Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Humans , Bone Marrow Diseases/genetics , Bone Marrow Diseases/complications , Bone Marrow Diseases/pathology , Congenital Bone Marrow Failure Syndromes/complications , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/pathology , Leukemia, Myeloid, Acute/genetics , Genetic Predisposition to Disease , Germ Cells/pathology
4.
Radiologie (Heidelb) ; 64(4): 287-294, 2024 Apr.
Article in German | MEDLINE | ID: mdl-38270705

ABSTRACT

Bone marrow edema represents a common finding on magnetic resonance imaging (MRI) of the knee and other joints, which can occur as a primary pathology or as a secondary phenomenon of various bone and joint pathologies. This article reviews the terminology, definition, pathology and differential diagnosis of bone marrow edema of the knee taking into consideration current concepts.


Subject(s)
Bone Marrow Diseases , Bone Marrow , Humans , Bone Marrow/pathology , Knee Joint/pathology , Knee/pathology , Bone Marrow Diseases/diagnosis , Bone Marrow Diseases/pathology , Magnetic Resonance Imaging/methods , Edema/diagnosis , Edema/pathology , Syndrome
5.
Blood Adv ; 8(1): 70-79, 2024 01 09.
Article in English | MEDLINE | ID: mdl-37967385

ABSTRACT

ABSTRACT: The detection of genetic aberrations is crucial for early therapy decisions in acute myeloid leukemia (AML) and recommended for all patients. Because genetic testing is expensive and time consuming, a need remains for cost-effective, fast, and broadly accessible tests to predict these aberrations in this aggressive malignancy. Here, we developed a novel fully automated end-to-end deep learning pipeline to predict genetic aberrations directly from single-cell images from scans of conventionally stained bone marrow smears already on the day of diagnosis. We used this pipeline to compile a multiterabyte data set of >2 000 000 single-cell images from diagnostic samples of 408 patients with AML. These images were then used to train convolutional neural networks for the prediction of various therapy-relevant genetic alterations. Moreover, we created a temporal test cohort data set of >444 000 single-cell images from further 71 patients with AML. We show that the models from our pipeline can significantly predict these subgroups with high areas under the curve of the receiver operating characteristic. Potential genotype-phenotype links were visualized with 2 different strategies. Our pipeline holds the potential to be used as a fast and inexpensive automated tool to screen patients with AML for therapy-relevant genetic aberrations directly from routine, conventionally stained bone marrow smears already on the day of diagnosis. It also creates a foundation to develop similar approaches for other bone marrow disorders in the future.


Subject(s)
Bone Marrow Diseases , Deep Learning , Leukemia, Myeloid, Acute , Humans , Bone Marrow/pathology , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/therapy , Neural Networks, Computer , Bone Marrow Diseases/pathology
7.
Skeletal Radiol ; 53(5): 871-879, 2024 May.
Article in English | MEDLINE | ID: mdl-37932432

ABSTRACT

OBJECTIVE: Transient osteoporosis of the hip (TOH) is an uncommon, typically self-limited diagnosis of uncertain etiology. We hypothesize that TOH represents an underlying subchondral fracture, and a discrete fracture line can often be detected on high-resolution MRI. MATERIALS AND METHODS: A retrospective PACS query identified patients meeting imaging criteria for TOH with intense bone marrow edema (BME) in the femoral head on MRI. Those with poor quality studies, other underlying pathologies, or antecedent trauma were excluded. Three musculoskeletal radiologists independently reviewed each case for presence of a definite subchondral fracture line on small field of view (FOV) MR images of the affected hip. Extent of BME, reciprocal acetabular BME, and joint effusion size were also recorded. Binomial logistic regression was performed to determine statistically significant predictors of subchondral fracture. RESULTS: Fifty patients met inclusion criteria (29 females, 0 pregnant). Mean age was 62±12 years (range 35-84). Average duration of symptoms before MRI was 102±135 days. Ten patients had bone densitometry within 2 years of MRI, six demonstrating osteopenia or osteoporosis. Subchondral fractures were unanimously identified in 44/50 (88%). Interclass correlation coefficient with absolute agreement was 0.73, 95% CI (0.57-0.84), indicating near-excellent agreement. Most cases demonstrated a large joint effusion (23/50, 46%) and acetabular BME (31/50, 62%). Increasing size of joint effusion was a statistically significant predictor of subchondral fracture (p=0.05), with 6.9 higher odds. There was a strong correlation with osteopenia/osteoporosis and fracture (p<0.001). CONCLUSION: Discrete subchondral fractures were identified unanimously on small FOV imaging in the majority of TOH cases.


Subject(s)
Bone Marrow Diseases , Fractures, Bone , Osteoporosis , Female , Humans , Adult , Middle Aged , Aged , Aged, 80 and over , Retrospective Studies , Magnetic Resonance Imaging/methods , Acetabulum/pathology , Bone Marrow Diseases/pathology
8.
Best Pract Res Clin Haematol ; 36(4): 101516, 2023 12.
Article in English | MEDLINE | ID: mdl-38092475

ABSTRACT

The bone marrow failure syndromes (BMFS) are a diverse group of acquired and inherited diseases which may manifest in cytopenias, haematological malignancy and/or syndromic multisystem disease. Patients with BMFS frequently experience poor outcomes, and improved treatment strategies are needed. Collation of clinical characteristics and patient outcomes in a national disease-specific registry represents a powerful tool to identify areas of need and support clinical and research collaboration. Novel treatment strategies such as gene therapy, particularly in rare diseases, will depend on the ability to identify eligible patients alongside the molecular genetic features of their disease that may be amenable to novel therapy. The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) aims to improve outcomes for all paediatric and adult patients with BMFS in Australia by describing the demographics, treatments (including supportive care) and outcomes, and serving as a resource for research and practice improvement.


Subject(s)
Anemia, Aplastic , Bone Marrow Diseases , Adult , Humans , Child , Anemia, Aplastic/genetics , Anemia, Aplastic/therapy , Anemia, Aplastic/pathology , Bone Marrow Diseases/genetics , Bone Marrow Diseases/therapy , Bone Marrow Diseases/pathology , Australia/epidemiology , Bone Marrow Failure Disorders , Syndrome , Registries
9.
Best Pract Res Clin Rheumatol ; 37(3): 101874, 2023 09.
Article in English | MEDLINE | ID: mdl-37953121

ABSTRACT

Magnetic resonance imaging (MRI) has emerged as a valuable tool for early detection and of axial spondyloarthritis (axSpA). A standardized imaging acquisition protocol, aligned with the current state-of-the-art, is crucial to obtain MRI scans that meet the diagnostic quality requirements. It is important to note that certain lesions, particularly bone marrow edema (BME), can be induced by mechanical stress or be a manifestation of another non-inflammatory disorder and may mimic the characteristic findings of axSpA on MRI. Therefore, a thorough assessment of MRI lesions, considering their localization and presence of highly specific features such as erosions and backfill, becomes imperative. Additionally, the application of additional imaging modalities, when necessary, can contribute to the differentiation of axSpA from other conditions that may exhibit similar MRI findings. This review provides recommendations on how to perform MRI in daily clinical practice and how to interpret finding from the differential diagnostic point of view.


Subject(s)
Axial Spondyloarthritis , Bone Marrow Diseases , Spondylarthritis , Humans , Sacroiliac Joint , Spondylarthritis/diagnosis , Magnetic Resonance Imaging/methods , Bone Marrow Diseases/pathology
10.
Life Sci Alliance ; 6(12)2023 12.
Article in English | MEDLINE | ID: mdl-37816584

ABSTRACT

Defects in ribosomal biogenesis profoundly affect organismal development and cellular function, and these ribosomopathies produce a variety of phenotypes. One ribosomopathy, Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, pancreatic exocrine insufficiency, and skeletal anomalies. SDS results from biallelic mutations in SBDS, which encodes a ribosome assembly factor. Some individuals express a missense mutation, SBDS R126T , along with the common K62X mutation. We reported that the sbds-null zebrafish phenocopies much of SDS. We further showed activation of Tp53-dependent pathways before the fish died during the larval stage. Here, we expressed SBDS R126T as a transgene in the sbds -/- background. We showed that one copy of the SBDS R126T transgene permitted the establishment of maternal zygotic sbds-null fish which produced defective embryos with cdkn1a up-regulation, a Tp53 target involved in cell cycle arrest. None survived beyond 3 dpf. However, two copies of the transgene resulted in normal development and lifespan. Surprisingly, neutropenia persisted. The surviving fish displayed suppression of female sex differentiation, a stress response in zebrafish. To evaluate the role of Tp53 in the pathogenesis of sbds -/- fish phenotype, we bred the fish with a DNA binding deficient allele, tp53 M214K Expression of the loss-of-function tp53 M214K did not rescue neutropenia or survival in sbds-null zebrafish. Increased expression of cdkn1a was abrogated in the tp53 M214K/M214K ;sbds -/- fish. We conclude that the amount of SBDSR126T protein is important for development, inactivation of Tp53 fails to rescue neutropenia or survival in the sbds-null background, and cdkn1a up-regulation was dependent on WT tp53 We hypothesize that additional pathways are involved in the pathophysiology of SDS.


Subject(s)
Bone Marrow Diseases , Lipomatosis , Neutropenia , Animals , Female , Zebrafish/genetics , Lipomatosis/genetics , Lipomatosis/metabolism , Lipomatosis/pathology , Bone Marrow Diseases/genetics , Bone Marrow Diseases/metabolism , Bone Marrow Diseases/pathology , Proteins/genetics , Nuclear Proteins/genetics , Zebrafish Proteins/genetics
11.
RMD Open ; 9(4)2023 10.
Article in English | MEDLINE | ID: mdl-37899091

ABSTRACT

OBJECTIVES: Sex-specific differences in the presentation of axial spondyloarthritis (axSpA) may contribute to a diagnostic delay in women. The aim of this study was to investigate the diagnostic performance of MRI findings comparing men and women. METHODS: Patients with back pain from six different prospective cohorts (n=1194) were screened for inclusion in this post hoc analysis. Two blinded readers scored the MRI data sets independently for the presence of ankylosis, erosion, sclerosis, fat metaplasia and bone marrow oedema. Χ2 tests were performed to compare lesion frequencies. Contingency tables were used to calculate markers for diagnostic performance, with clinical diagnosis as the standard of reference. The positive and negative likelihood ratios (LR+/LR-) were used to calculate the diagnostic OR (DOR) to assess the diagnostic performance. RESULTS: After application of exclusion criteria, 526 patients (379 axSpA (136 women and 243 men) and 147 controls with chronic low back pain) were included. No major sex-specific differences in the diagnostic performance were shown for bone marrow oedema (DOR m: 3.0; f: 3.9). Fat metaplasia showed a better diagnostic performance in men (DOR 37.9) than in women (DOR 5.0). Lower specificity was seen in women for erosions (77% vs 87%), sclerosis (44% vs 66%), fat metaplasia (87% vs 96%). CONCLUSION: The diagnostic performance of structural MRI markers is substantially lower in female patients with axSpA; active inflammatory lesions show comparable performance in both sexes, while still overall inferior to structural markers. This leads to a comparably higher risk of false positive findings in women.


Subject(s)
Axial Spondyloarthritis , Bone Marrow Diseases , Spondylarthritis , Male , Humans , Female , Spondylarthritis/diagnostic imaging , Spondylarthritis/pathology , Sacroiliac Joint/pathology , Prospective Studies , Delayed Diagnosis , Sclerosis/pathology , Magnetic Resonance Imaging , Bone Marrow Diseases/pathology , Edema/diagnostic imaging , Edema/etiology , Metaplasia/pathology
12.
Arthritis Rheumatol ; 75(12): 2169-2177, 2023 12.
Article in English | MEDLINE | ID: mdl-37410803

ABSTRACT

OBJECTIVE: We aimed to develop and validate a fully automated machine learning (ML) algorithm that predicts bone marrow edema (BME) on a quadrant level in sacroiliac (SI) joint magnetic resonance imaging (MRI). METHODS: A computer vision workflow automatically locates the SI joints, segments regions of interest (ilium and sacrum), performs objective quadrant extraction, and predicts presence of BME, suggestive of inflammatory lesions, on a quadrant level in semicoronal slices of T1/T2-weighted MRI scans. Ground truth was determined by consensus among human readers. The inflammation classifier was trained using a ResNet18 backbone and five-fold cross-validated on scans of patients with spondyloarthritis (SpA) (n = 279), postpartum individuals (n = 71), and healthy subjects (n = 114). Independent SpA patient MRI scans (n = 243) served as test data set. Patient-level predictions were derived from aggregating quadrant-level predictions, ie, at least one positive quadrant. RESULTS: The algorithm automatically detects the SI joints with a precision of 98.4% and segments ilium/sacrum with an intersection over union of 85.6% and 67.9%, respectively. The inflammation classifier performed well in cross-validation: area under the curve (AUC) 94.5%, balanced accuracy (B-ACC) 80.5%, and F1 score 64.1%. In the test data set, AUC was 88.2%, B-ACC 72.1%, and F1 score 50.8%. On a patient level, the model achieved a B-ACC of 81.6% and 81.4% in the cross-validation and test data set, respectively. CONCLUSION: We propose a fully automated ML pipeline that enables objective and standardized evaluation of BME along the SI joints on MRI. This method has the potential to screen large numbers of patients with (suspected) SpA and is a step closer towards artificial intelligence-assisted diagnosis and follow-up.


Subject(s)
Bone Marrow Diseases , Sacroiliitis , Spondylarthritis , Female , Humans , Sacroiliac Joint/diagnostic imaging , Sacroiliac Joint/pathology , Bone Marrow/diagnostic imaging , Bone Marrow/pathology , Artificial Intelligence , Spondylarthritis/pathology , Bone Marrow Diseases/diagnostic imaging , Bone Marrow Diseases/pathology , Inflammation/pathology , Magnetic Resonance Imaging/methods , Edema/diagnostic imaging , Edema/pathology , Machine Learning , Sacroiliitis/pathology
13.
Eur Radiol ; 33(12): 8645-8655, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37498385

ABSTRACT

OBJECTIVE: To compare sacroiliac joint (SIJ) lesions on MRI in women with versus without axial spondyloarthritis (ax-SpA) and establish an algorithm to determine whether such lesions are due to ax-SpA. METHODS: This retrospective comparative study assessed bone marrow edema (BME), sclerosis, erosions, osteophytes, and ankylosis at the SIJ in two groups of women, one with and another without ax-SpA. Sensitivity and specificity were calculated for combinations/characteristics of lesions, using rheumatologists' assessment with assessment of spondyloarthritis international society (ASAS) criteria as the gold standard for diagnosis of ax-SpA. RESULTS: Compared to women without ax-SpA, women with ax-SpA had more BME (61% vs 17%, p < 0.001), sclerosis (40% vs 22%, p < 0.001), erosions (35% vs 5%, p < 0.001), and ankylosis (2% vs 0%, p = 0.007), but less osteophytes (5% vs 33%, p < 0.001). The ASAS MRI criteria yielded 59% sensitivity and 88% specificity, while a new algorithm achieved 56% sensitivity and 95% specificity using the following criteria: no osteophytes at the SIJ and either (i) BME at the SIJ with at least one dimension ≥ 8 mm or (ii) at least one erosion at the SIJ. CONCLUSIONS: We recommend the following pragmatic algorithm for MRI diagnosis of ax-SpA in women: no osteophytes at the SIJ and either (i) BME at the SIJ with at least one dimension ≥ 8 mm or (ii) at least one erosion at the SIJ. The false positive rate when using the new algorithm (3.3%) is less than half than when using the ASAS MRI criteria (7.7%); thus, its application in clinical practice could reduce overdiagnosis and prevent overtreatment of ax-SpA. CLINICAL RELEVANCE STATEMENT: The developed algorithm has a false-positive rate that is less than half than when using the ASAS MRI criteria (3.3% vs 7.7%), thus its application in clinical practice could reduce overdiagnosis and prevent overtreatment of axial spondyloarthritis. KEY POINTS: • Compared to women without axial spondyloarthritis (ax-SpA), women with ax-SpA had a significantly higher prevalence of bone marrow edema (BME), sclerosis, erosions, and ankylosis, but a significantly lower prevalence of osteophytes. • A new algorithm for positive ax-SpA based on sacroiliac joint MRI was developed: no osteophytes at the sacroiliac joint (SIJ) and either (i) BME at the SIJ with at least one dimension ≥ 8 mm or (ii) at least one erosion at the SIJ. • We recommend this new algorithm for diagnosis of ax-SpA in women, as it has a significantly better specificity than the assessment of spondyloarthritis international society (ASAS) MRI criteria and less than half the false positive rate; thus, its application in clinical practice could reduce overdiagnosis and prevent overtreatment of ax-SpA.


Subject(s)
Axial Spondyloarthritis , Bone Marrow Diseases , Osteophyte , Sacroiliitis , Spondylarthritis , Humans , Female , Sacroiliac Joint/diagnostic imaging , Sacroiliac Joint/pathology , Retrospective Studies , Osteophyte/pathology , Sclerosis/pathology , Spondylarthritis/diagnostic imaging , Spondylarthritis/pathology , Magnetic Resonance Imaging/methods , Bone Marrow Diseases/pathology , Edema/pathology , Sacroiliitis/diagnosis
14.
Haematologica ; 108(10): 2594-2605, 2023 10 01.
Article in English | MEDLINE | ID: mdl-37226705

ABSTRACT

Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30% of cases, transformation to a myeloid neoplasm occurs. Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Over the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes; these are DNAJC21, EFL1, and SRP54. Clinical manifestations involve multiple organ systems and those classically associated with the Shwachman-Diamond syndrome (bone, blood, and pancreas). Neurocognitive, dermatologic, and retinal changes may also be found. There are specific gene-phenotype differences. To date, SBDS, DNAJC21, and SRP54 variants have been associated with myeloid neoplasia. Common to SBDS, EFL1, DNAJC21, and SRP54 is their involvement in ribosome biogenesis or early protein synthesis. These four genes constitute a common biochemical pathway conserved from yeast to humans that involve early stages of protein synthesis and demonstrate the importance of this synthetic pathway in myelopoiesis.


Subject(s)
Bone Marrow Diseases , Exocrine Pancreatic Insufficiency , Lipomatosis , Humans , Shwachman-Diamond Syndrome , Lipomatosis/genetics , Lipomatosis/metabolism , Lipomatosis/pathology , Bone Marrow Diseases/genetics , Bone Marrow Diseases/pathology , Mutation , Exocrine Pancreatic Insufficiency/genetics , Exocrine Pancreatic Insufficiency/metabolism , Exocrine Pancreatic Insufficiency/pathology , Signal Recognition Particle/genetics
15.
Diagn Interv Imaging ; 104(7-8): 373-383, 2023.
Article in English | MEDLINE | ID: mdl-37012131

ABSTRACT

PURPOSE: The purpose of this study was to develop and evaluate a deep learning model to detect bone marrow edema (BME) in sacroiliac joints and predict the MRI Assessment of SpondyloArthritis International Society (ASAS) definition of active sacroiliitis in patients with chronic inflammatory back pain. MATERIALS AND METHODS: MRI examinations of patients from the French prospective multicenter DESIR cohort (DEvenir des Spondyloarthropathies Indifférenciées Récentes) were used for training, validation and testing. Patients with inflammatory back pain lasting three months to three years were recruited. Test datasets were from MRI follow-ups at five years and ten years. The model was evaluated using an external test dataset from the ASAS cohort. A neuronal network classifier (mask-RCNN) was trained and evaluated for sacroiliac joints detection and BME classification. Diagnostic capabilities of the model to predict ASAS MRI active sacroiliitis (BME in at least two half-slices) were assessed using Matthews correlation coefficient (MCC), sensitivity, specificity, accuracy and AUC. The gold standard was experts' majority decision. RESULTS: A total of 256 patients with 362 MRI examinations from the DESIR cohort were included, with 27% meeting the ASAS definition for experts. A total of 178 MRI examinations were used for the training set, 25 for the validation set and 159 for the evaluation set. MCCs for DESIR baseline, 5-years, and 10-years follow-up were 0.90 (n = 53), 0.64 (n = 70), and 0.61 (n = 36), respectively. AUCs for predicting ASAS MRI were 0.98 (95% CI: 0.93-1), 0.90 (95% CI: 0.79-1), and 0.80 (95% CI: 0.62-1), respectively. The ASAS external validation cohort included 47 patients (mean age 36 ± 10 [SD] years; women, 51%) with 19% meeting the ASAS definition. MCC was 0.62, sensitivity 56% (95% CI: 42-70), specificity 100% (95% CI: 100-100) and AUC 0.76 (95% CI: 0.57-0.95). CONCLUSION: The deep learning model achieves performance close to those of experts for BME detection in sacroiliac joints and determination of active sacroiliitis according to the ASAS definition.


Subject(s)
Bone Marrow Diseases , Deep Learning , Sacroiliitis , Spondylarthritis , Humans , Female , Adult , Middle Aged , Sacroiliitis/diagnostic imaging , Prospective Studies , Spondylarthritis/diagnostic imaging , Sacroiliac Joint/diagnostic imaging , Sacroiliac Joint/pathology , Magnetic Resonance Imaging/methods , Back Pain , Bone Marrow Diseases/pathology , Edema
16.
Skeletal Radiol ; 52(9): 1695-1701, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37012390

ABSTRACT

PURPOSE: Identify chronic shoulder MRI findings in patients with known shoulder injury related to vaccine administration (SIRVA). MATERIALS AND METHODS: Two fellowship-trained musculoskeletal radiologists retrospectively reviewed the MRI of nine patients with clinically established SIRVA. MRI was performed at least 4 weeks after vaccination and included intravenous contrast-enhanced sequences. MRI was reviewed for the presence of erosions, tendonitis, capsulitis, synovitis, bone marrow oedema, joint effusion, bursitis, cartilage defects, rotator cuff lesions, and lymphadenopathy. The number and location of focal lesions were recorded. RESULTS: Erosions of the greater tuberosity were present in 8/9 (89%), tendonitis of the infraspinatus muscle tendon in 7/9 (78%), capsulitis, synovitis, and bone marrow oedema in 5/9 (56%) cases, respectively. Effusion was found in three, and subdeltoid bursitis, rotator cuff lesions as well as cartilage defects in one patient, respectively. None of our included subjects showed axillary lymphadenopathy. CONCLUSION: In this case series, greater humeral tuberosity erosions, infraspinatus muscle tendonitis, capsulitis, synovitis, and bone marrow oedema were common MRI findings in chronic SIRVA.


Subject(s)
Bone Marrow Diseases , Bursitis , Lymphadenopathy , Rotator Cuff Injuries , Shoulder Injuries , Shoulder Joint , Synovitis , Tendinopathy , Vaccines , Humans , Retrospective Studies , Shoulder Injuries/diagnostic imaging , Shoulder Injuries/pathology , Rotator Cuff/pathology , Rotator Cuff Injuries/pathology , Magnetic Resonance Imaging/methods , Tendinopathy/pathology , Bursitis/diagnostic imaging , Bursitis/pathology , Synovitis/pathology , Bone Marrow Diseases/pathology , Edema/pathology , Lymphadenopathy/pathology , Shoulder Joint/diagnostic imaging , Shoulder Joint/pathology
17.
Radiologie (Heidelb) ; 63(4): 259-267, 2023 Apr.
Article in German | MEDLINE | ID: mdl-36882548

ABSTRACT

Bone stress injuries is an umbrella term that encompasses repetitive microtraumatic events that accumulate to surpass the threshold of bone failure, which can range from bone marrow edema to frank stress fracture as the end point. Due to nonspecific clinical complaints and physical findings, imaging plays a central role in the diagnostic workup of these entities. Magnetic resonance imaging (MRI) is the most important imaging modality with a high sensitivity and specificity and allows for differential diagnosis of other diseases. Edema-sensitive with fat suppression and T1-weighted sequences are the core sequence types, and contrast-enhanced imaging-albeit displaying subtle fractures much more easily-is rarely necessary. Furthermore, MRI enables differentiation of injury severity, which has an impact on length of rehabilitation, therapeutic regimen, and the time to return to sports in athletes.


Subject(s)
Athletic Injuries , Bone Marrow Diseases , Fractures, Stress , Humans , Fractures, Stress/diagnostic imaging , Fractures, Stress/therapy , Magnetic Resonance Imaging/methods , Bone Marrow Diseases/pathology , Athletic Injuries/diagnosis , Athletic Injuries/therapy , Edema/diagnosis , Edema/pathology
18.
Leukemia ; 37(4): 725-727, 2023 04.
Article in English | MEDLINE | ID: mdl-36871061

ABSTRACT

In this Perspective, we discuss criteria for defining a new disease entity or variant of a recognized disease or disorder. We do so in the context of the current topography of the BCR::ABL-negative myeloproliferative neoplasms (MPNs) where two new variants are reported: clonal megakaryocyte dysplasia with normal blood values (CMD-NBV) and clonal megakaryocyte dysplasia with isolated thrombocytosis (CMD-IT). The cardinal feature of these variants is bone marrow megakaryocyte hyperplasia and atypia corresponding the WHO histological criteria for primary myelofibrosis (myelofibrosis-type megakaryocyte dysplasia-MTMD). Persons with these new variants have a different disease course and features from others in the MPN domain. In a broader context we suggest myelofibrosis-type megakaryocyte dysplasia defines a spectrum of related MPN variants including CMD-NBV, CMD-IT, pre-fibrotic myelofibrosis and overt myelofibrosis, which differ from polycythemia vera and essential thrombocythemia. Our proposal needs external validation and we stress the need for a consensus definition of the megakaryocyte dysplasia which is the hallmark of these disorders.


Subject(s)
Bone Marrow Diseases , Myeloproliferative Disorders , Polycythemia Vera , Primary Myelofibrosis , Thrombocytosis , Humans , Bone Marrow Diseases/pathology , Megakaryocytes/pathology , Myeloproliferative Disorders/genetics , Myeloproliferative Disorders/pathology , Polycythemia Vera/pathology , Primary Myelofibrosis/genetics , Primary Myelofibrosis/pathology , Thrombocytosis/genetics , Thrombocytosis/pathology , Fusion Proteins, bcr-abl
19.
Eur Radiol ; 33(5): 3178-3187, 2023 May.
Article in English | MEDLINE | ID: mdl-36892646

ABSTRACT

OBJECTIVES: To explore the different involvement patterns of the knee "synovio-entheseal complex (SEC)" on MRI in patients with spondyloarthritis (SPA), rheumatoid arthritis (RA), and osteoarthritis (OA). METHODS: This study retrospectively included 120 patients (male:female, 55:65) with a mean age of 39.20 years diagnosed with SPA (n = 40), RA (n = 40), and OA (n = 40) at the First Central Hospital of Tianjin between January 2020 and May 2022. Six knee entheses were assessed by two musculoskeletal radiologists according to the SEC definition. Bone marrow lesions associated with entheses include bone marrow edema (BME) and bone erosion (BE), which were classified as entheseal or peri-entheseal based on their relationship to the entheses. Three groups (OA, RA, and SPA) were established to characterize the location of enthesitis and the different SEC involvement patterns. Inter-group and intra-group differences were analyzed using the ANOVA or chi-square tests, and the inter-class correlation coefficient (ICC) test was used to determine inter-reader agreement. RESULTS: The study contained a total of 720 entheses. The SEC-based analysis revealed different involvement patterns in three groups. The OA group had the most abnormal signals in tendons/ligaments (p = 0.002). The RA group had considerably greater synovitis (p = 0.002). The majority of peri-entheseal BE was identified in the OA and RA groups (p = 0.003). Furthermore, entheseal BME in the SPA group was significantly different from those in the other two groups (p < 0.001). CONCLUSIONS: SEC involvement patterns differed in SPA, RA, and OA, which is important for differential diagnosis. SEC should be used as a whole evaluation method in clinical practice. KEY POINTS: • The "synovio-entheseal complex (SEC)" explained differences and characteristic alterations in the knee joint in patients with spondyloarthritis (SPA), rheumatoid arthritis (RA), and osteoarthritis (OA). • The various SEC involvement patterns are crucial for differentiating SPA, RA, and OA. • When "knee pain" is the only symptom, a detailed identification of characteristic alterations in the knee joint of SPA patients may help timely treatment and delay the structural damage.


Subject(s)
Arthritis, Rheumatoid , Bone Marrow Diseases , Osteoarthritis , Spondylarthritis , Humans , Male , Female , Adult , Diagnosis, Differential , Retrospective Studies , Arthritis, Rheumatoid/diagnostic imaging , Arthritis, Rheumatoid/complications , Knee Joint/pathology , Spondylarthritis/complications , Magnetic Resonance Imaging/methods , Bone Marrow Diseases/pathology
20.
Eur Radiol ; 33(5): 3172-3177, 2023 May.
Article in English | MEDLINE | ID: mdl-36809434

ABSTRACT

OBJECTIVES: To evaluate extensor carpi ulnaris (ECU) tendon pathology and ulnar styloid process bone marrow edema (BME) as diagnostic MRI markers for peripheral triangular fibrocartilage complex (TFCC) tears. METHODS: One hundred thirty-three patients (age range 21-75, 68 females) with wrist 1.5-T MRI and arthroscopy were included in this retrospective case-control study. The presence of TFCC tears (no tear, central perforation, or peripheral tear), ECU pathology (tenosynovitis, tendinosis, tear or subluxation), and BME at the ulnar styloid process were determined on MRI and correlated with arthroscopy. Cross-tabulation with chi-square tests, binary logistic regression with odds ratios (OR), and sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were used to describe diagnostic efficacy. RESULTS: On arthroscopy, 46 cases with no TFCC tear, 34 cases with central perforations, and 53 cases with peripheral TFCC tears were identified. ECU pathology was seen in 19.6% (9/46) of patients with no TFCC tears, in 11.8% (4/34) with central perforations and in 84.9% (45/53) with peripheral TFCC tears (p < 0.001); the respective numbers for BME were 21.7% (10/46), 23.5% (8/34), and 88.7% (47/53) (p < 0.001). Binary regression analysis showed additional value from ECU pathology and BME in predicting peripheral TFCC tears. The combined approach with direct MRI evaluation and both ECU pathology and BME yielded a 100% positive predictive value for peripheral TFCC tear as compared to 89% with direct evaluation alone. CONCLUSIONS: ECU pathology and ulnar styloid BME are highly associated with peripheral TFCC tears and can be used as secondary signs to diagnose tears. KEY POINTS: • ECU pathology and ulnar styloid BME are highly associated with peripheral TFCC tears and can be used as secondary signs to confirm the presence of TFCC tears. • If there is a peripheral TFCC tear on direct MRI evaluation and in addition both ECU pathology and BME on MRI, the positive predictive value is 100% that there will be a tear on arthroscopy compared to 89% with direct evaluation alone. • If there is no peripheral TFCC tear on direct evaluation and neither ECU pathology nor BME on MRI, the negative predictive value is 98% that there will be no tear on arthroscopy compared to 94% with direct evaluation alone.


Subject(s)
Biomarkers , Bone Marrow Diseases , Edema , Tendons , Wrist Injuries , Tendons/diagnostic imaging , Tendons/pathology , Radius/diagnostic imaging , Radius/pathology , Bone Marrow Diseases/complications , Bone Marrow Diseases/diagnostic imaging , Bone Marrow Diseases/pathology , Magnetic Resonance Imaging , Edema/complications , Edema/diagnostic imaging , Edema/pathology , Triangular Fibrocartilage/diagnostic imaging , Triangular Fibrocartilage/injuries , Case-Control Studies , Wrist Injuries/complications , Wrist Injuries/diagnostic imaging , Wrist Joint/diagnostic imaging , Wrist Joint/pathology , Humans , Male , Female , Young Adult , Adult , Middle Aged , Aged , Sensitivity and Specificity , Reproducibility of Results , Retrospective Studies , Rupture/complications , Rupture/diagnostic imaging , Rupture/pathology
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