Assuntos
Leucemia Mieloide Aguda , Linfoma Difuso de Grandes Células B , Síndrome de Shwachman-Diamond , Humanos , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/complicações , Leucemia Mieloide Aguda/patologia , Leucemia Mieloide Aguda/complicações , Masculino , Adulto Jovem , Lipomatose/patologia , Lipomatose/complicações , Insuficiência Pancreática Exócrina/complicações , Insuficiência Pancreática Exócrina/genética , Insuficiência Pancreática Exócrina/patologia , Doenças da Medula Óssea/patologia , AdultoRESUMO
Non-neoplastic bone marrow disorders are main causes of non-regenerative anemia in dogs. Despite the high incidence of the diseases, their molecular pathophysiology has not been elucidated. We previously reported that Miniature Dachshund (MD) was a predisposed breed to be diagnosed with non-neoplastic bone marrow disorders in Japan, and immunosuppressive treatment-resistant MDs showed higher number of platelets and morphological abnormalities in peripheral blood cells. These data implied that treatment-resistant MDs might possess distinct pathophysiological features from treatment-responsive MDs. Therefore, we conducted transcriptomic analysis of bone marrow specimens to investigate the pathophysiology of treatment-resistant MDs. Transcriptomic analysis comparing treatment-resistant MDs and healthy control dogs identified 179 differentially expressed genes (DEGs). Pathway analysis using these DEGs showed that "Wnt signaling pathway" was a significantly enriched pathway. We further examined the expression levels of DEGs associated with Wnt signaling pathway and confirmed the upregulation of AXIN2 and CCND2 and the downregulation of SFRP2 in treatment-resistant MDs compared with treatment-responsive MDs and healthy control dogs. This alteration implied the activation of Wnt signaling pathway in treatment-resistant MDs. The activation of Wnt signaling pathway has been reported in human patients with myelodysplastic syndrome (MDS), which is characterized by dysplastic features of blood cells. Therefore, the results of this study implied that treatment-resistant MDs have distinct molecular pathological features from treatment-responsive MDs and the pathophysiology of treatment-resistant MDs might be similar to that of human MDS patients.
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Doenças do Cão , Perfilação da Expressão Gênica , Cães , Animais , Doenças do Cão/genética , Doenças do Cão/patologia , Perfilação da Expressão Gênica/veterinária , Medula Óssea/patologia , Síndromes Mielodisplásicas/veterinária , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/patologia , Transcriptoma , Masculino , Feminino , Via de Sinalização Wnt , Doenças da Medula Óssea/veterinária , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/patologiaRESUMO
Recent advances in in-depth data-independent acquisition proteomic analysis have enabled comprehensive quantitative analysis of >10,000 proteins. Herein, an integrated proteogenomic analysis for inherited bone marrow failure syndrome (IBMFS) was performed to reveal their biological features and to develop a proteomic-based diagnostic assay in the discovery cohort; dyskeratosis congenita (n = 12), Fanconi anemia (n = 11), Diamond-Blackfan anemia (DBA, n = 9), Shwachman-Diamond syndrome (SDS, n = 6), ADH5/ALDH2 deficiency (n = 4), and other IBMFS (n = 18). Unsupervised proteomic clustering identified eight independent clusters (C1-C8), with the ribosomal pathway specifically downregulated in C1 and C2, enriched for DBA and SDS, respectively. Six patients with SDS had significantly decreased SBDS protein expression, with two of these not diagnosed by DNA sequencing alone. Four patients with ADH5/ALDH2 deficiency showed significantly reduced ADH5 protein expression. To perform a large-scale rapid IBMFS screening, targeted proteomic analysis was performed on 417 samples from patients with IBMFS-related hematological disorders (n = 390) and healthy controls (n = 27). SBDS and ADH5 protein expressions were significantly reduced in SDS and ADH5/ALDH2 deficiency, respectively. The clinical application of this first integrated proteogenomic analysis would be useful for the diagnosis and screening of IBMFS, where appropriate clinical screening tests are lacking.
Assuntos
Doenças da Medula Óssea , Transtornos da Insuficiência da Medula Óssea , Proteogenômica , Humanos , Transtornos da Insuficiência da Medula Óssea/genética , Transtornos da Insuficiência da Medula Óssea/patologia , Proteogenômica/métodos , Masculino , Feminino , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/patologia , Criança , Adulto , Adolescente , Pré-Escolar , Anemia de Diamond-Blackfan/genética , Anemia de Diamond-Blackfan/diagnóstico , Adulto Jovem , Anemia de Fanconi/genética , Anemia de Fanconi/diagnóstico , Proteômica/métodos , Lactente , Síndrome de Shwachman-Diamond/genética , Disceratose Congênita/genética , Disceratose Congênita/diagnóstico , Disceratose Congênita/patologiaRESUMO
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.
Assuntos
Medula Óssea , Imageamento por Ressonância Magnética , Osteoartrite do Joelho , Humanos , Osteoartrite do Joelho/cirurgia , Osteoartrite do Joelho/diagnóstico por imagem , Osteoartrite do Joelho/patologia , Estudos Retrospectivos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Estudos de Coortes , Fatores de Tempo , Fatores de Risco , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Articulação do Joelho/patologia , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/etiologia , Doenças da Medula Óssea/patologia , Artroplastia do Joelho/métodos , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Bone marrow lesions (BMLs) in knee osteoarthritis (OA) have been assessed histopathologically and by dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI); however, a direct comparison of the results has not been reported. PURPOSE: To evaluate and compare the findings by DCE-MRI and histopathology of subchondral BMLs in knee OA. MATERIAL AND METHODS: In total, 19 patients with medial tibiofemoral knee OA undergoing total knee arthroplasty were analyzed. Preoperative MRI, including a DCE sequence, was performed, and bone biopsies were obtained from the resected specimens corresponding to BML areas. The contrast enhancement by DCE-MRI was analyzed using semi-quantitative (area under the curve [AUC]), peak enhancement [PE]), and quantitative (Ktrans, Kep) methods. Enhancement in the medial OA compartment was compared with similar areas in a normal lateral compartment, and the DCE characteristics of BMLs were correlated with semi-quantitatively graded histopathological features. RESULTS: AUC and PE were significantly higher in medial tibial and femoral BMLs compared with the values in the lateral condyles; Ktrans and Kep were only significantly higher in the tibial plateau. In the tibia, AUC and PE were significantly correlated with the grade of vascular proliferation, and PE also with the degree of marrow fibrosis. There was no significant correlation between AUC/PE and histopathological findings in the femur and no correlation between quantitative DCE parameters and histopathological findings. CONCLUSION: BML characteristics by semi-quantitative DCE in the form of AUC and PE may be used as parameters for the degree of histopathological vascularization in the bone marrow whereas quantitative DCE data were less conclusive.
Assuntos
Medula Óssea , Meios de Contraste , Imageamento por Ressonância Magnética , Osteoartrite do Joelho , Humanos , Osteoartrite do Joelho/diagnóstico por imagem , Osteoartrite do Joelho/patologia , Feminino , Masculino , Imageamento por Ressonância Magnética/métodos , Idoso , Pessoa de Meia-Idade , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/patologia , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Idoso de 80 Anos ou mais , Gadolínio DTPARESUMO
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.
Assuntos
Doenças da Medula Óssea , Neoplasias Ósseas , Humanos , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/patologia , Imageamento por Ressonância Magnética/métodos , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/patologia , Curva ROCRESUMO
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.
Assuntos
Doenças da Medula Óssea , Leucemia Mieloide Aguda , Síndromes Mielodisplásicas , Humanos , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/complicações , Doenças da Medula Óssea/patologia , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/patologia , Leucemia Mieloide Aguda/genética , Predisposição Genética para Doença , Células Germinativas/patologiaRESUMO
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.
Assuntos
Doenças da Medula Óssea , Medula Óssea , Humanos , Medula Óssea/patologia , Articulação do Joelho/patologia , Joelho/patologia , Doenças da Medula Óssea/diagnóstico , Doenças da Medula Óssea/patologia , Imageamento por Ressonância Magnética/métodos , Edema/diagnóstico , Edema/patologia , SíndromeRESUMO
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.
Assuntos
Doenças da Medula Óssea , Fraturas Ósseas , Osteoporose , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Acetábulo/patologia , Doenças da Medula Óssea/patologiaRESUMO
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.
Assuntos
Doenças da Medula Óssea , Aprendizado Profundo , Leucemia Mieloide Aguda , Humanos , Medula Óssea/patologia , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Redes Neurais de Computação , Doenças da Medula Óssea/patologiaRESUMO
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.
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Anemia Aplástica , Doenças da Medula Óssea , Adulto , Humanos , Criança , Anemia Aplástica/genética , Anemia Aplástica/terapia , Anemia Aplástica/patologia , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/terapia , Doenças da Medula Óssea/patologia , Austrália/epidemiologia , Transtornos da Insuficiência da Medula Óssea , Síndrome , Sistema de RegistrosRESUMO
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.
Assuntos
Espondiloartrite Axial , Doenças da Medula Óssea , Espondilartrite , Humanos , Articulação Sacroilíaca , Espondilartrite/diagnóstico , Imageamento por Ressonância Magnética/métodos , Doenças da Medula Óssea/patologiaRESUMO
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.
Assuntos
Doenças da Medula Óssea , Lipomatose , Neutropenia , Animais , Feminino , Peixe-Zebra/genética , Lipomatose/genética , Lipomatose/metabolismo , Lipomatose/patologia , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/metabolismo , Doenças da Medula Óssea/patologia , Proteínas/genética , Proteínas Nucleares/genética , Proteínas de Peixe-Zebra/genéticaRESUMO
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.
Assuntos
Espondiloartrite Axial , Doenças da Medula Óssea , Espondilartrite , Masculino , Humanos , Feminino , Espondilartrite/diagnóstico por imagem , Espondilartrite/patologia , Articulação Sacroilíaca/patologia , Estudos Prospectivos , Diagnóstico Tardio , Esclerose/patologia , Imageamento por Ressonância Magnética , Doenças da Medula Óssea/patologia , Edema/diagnóstico por imagem , Edema/etiologia , Metaplasia/patologiaRESUMO
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.
Assuntos
Doenças da Medula Óssea , Sacroileíte , Espondilartrite , Feminino , Humanos , Articulação Sacroilíaca/diagnóstico por imagem , Articulação Sacroilíaca/patologia , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Inteligência Artificial , Espondilartrite/patologia , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/patologia , Inflamação/patologia , Imageamento por Ressonância Magnética/métodos , Edema/diagnóstico por imagem , Edema/patologia , Aprendizado de Máquina , Sacroileíte/patologiaRESUMO
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.
Assuntos
Espondiloartrite Axial , Doenças da Medula Óssea , Osteófito , Sacroileíte , Espondilartrite , Humanos , Feminino , Articulação Sacroilíaca/diagnóstico por imagem , Articulação Sacroilíaca/patologia , Estudos Retrospectivos , Osteófito/patologia , Esclerose/patologia , Espondilartrite/diagnóstico por imagem , Espondilartrite/patologia , Imageamento por Ressonância Magnética/métodos , Doenças da Medula Óssea/patologia , Edema/patologia , Sacroileíte/diagnósticoRESUMO
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.
Assuntos
Doenças da Medula Óssea , Insuficiência Pancreática Exócrina , Lipomatose , Humanos , Síndrome de Shwachman-Diamond , Lipomatose/genética , Lipomatose/metabolismo , Lipomatose/patologia , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/patologia , Mutação , Insuficiência Pancreática Exócrina/genética , Insuficiência Pancreática Exócrina/metabolismo , Insuficiência Pancreática Exócrina/patologia , Partícula de Reconhecimento de Sinal/genéticaRESUMO
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.
Assuntos
Doenças da Medula Óssea , Bursite , Linfadenopatia , Lesões do Manguito Rotador , Lesões do Ombro , Articulação do Ombro , Sinovite , Tendinopatia , Vacinas , Humanos , Estudos Retrospectivos , Lesões do Ombro/diagnóstico por imagem , Lesões do Ombro/patologia , Manguito Rotador/patologia , Lesões do Manguito Rotador/patologia , Imageamento por Ressonância Magnética/métodos , Tendinopatia/patologia , Bursite/diagnóstico por imagem , Bursite/patologia , Sinovite/patologia , Doenças da Medula Óssea/patologia , Edema/patologia , Linfadenopatia/patologia , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/patologiaRESUMO
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.