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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.
Front Immunol ; 15: 1396486, 2024.
Article in English | MEDLINE | ID: mdl-38694497

ABSTRACT

Bone marrow failure (BMF) has become one of the most studied autoimmune disorders, particularly due to its prevalence both as an inherited disease, but also as a result of chemotherapies. BMF is associated with severe symptoms such as bleeding episodes and susceptibility to infections, and often has underlying characteristics, such as anemia, thrombocytopenia, and neutropenia. The current treatment landscape for BMF requires stem cell transplantation or chemotherapies to induce immune suppression. However, there is limited donor cell availability or dose related toxicity associated with these treatments. Optimizing these treatments has become a necessity. Polymer-based materials have become increasingly popular, as current research efforts are focused on synthesizing novel cell matrices for stem cell expansion to solve limited donor cell availability, as well as applying polymer delivery vehicles to intracellularly deliver cargo that can aid in immunosuppression. Here, we discuss the importance and impact of polymer materials to enhance therapeutics in the context of BMF.


Subject(s)
Polymers , Humans , Polymers/chemistry , Animals , Bone Marrow Diseases/chemically induced , Bone Marrow Diseases/therapy , Bone Marrow Failure Disorders/therapy , Biocompatible Materials
3.
Leukemia ; 38(6): 1256-1265, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38740980

ABSTRACT

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.


Subject(s)
Bone Marrow Diseases , Bone Marrow Failure Disorders , Proteogenomics , Humans , Bone Marrow Failure Disorders/genetics , Bone Marrow Failure Disorders/pathology , Proteogenomics/methods , Male , Female , Bone Marrow Diseases/genetics , Bone Marrow Diseases/pathology , Child , Adult , Adolescent , Child, Preschool , Anemia, Diamond-Blackfan/genetics , Anemia, Diamond-Blackfan/diagnosis , Young Adult , Fanconi Anemia/genetics , Fanconi Anemia/diagnosis , Proteomics/methods , Infant , Shwachman-Diamond Syndrome/genetics , Dyskeratosis Congenita/genetics , Dyskeratosis Congenita/diagnosis , Dyskeratosis Congenita/pathology
4.
Genes (Basel) ; 15(5)2024 Apr 27.
Article in English | MEDLINE | ID: mdl-38790188

ABSTRACT

Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable of detecting most types chromosomal structural variants (SVs) at high resolution, is being increasingly used in many settings, including hematologic malignancies. Herein, we compared conventional cytogenetic techniques to OGM in 20 patients with diverse BMFSs. Twenty metaphases for the karyotype were only obtained in three subjects (15%), and no SVs were found in any of the samples. One patient with culture failure showed a gain in chromosome 1q by fluorescence in situ hybridization, which was confirmed by OGM. In contrast, OGM provided good quality results in all subjects, and SVs were detected in 14 of them (70%), mostly corresponding to cryptic submicroscopic alterations not observed by standard techniques. Therefore, OGM emerges as a powerful tool that provides complete and evaluable results in hypocellular BMFSs, reducing multiple tests into a single assay and overcoming some of the main limitations of conventional techniques. Furthermore, in addition to confirming the abnormalities detected by conventional techniques, OGM found new alterations beyond their detection limits.


Subject(s)
In Situ Hybridization, Fluorescence , Humans , Male , Female , Middle Aged , Adult , Aged , In Situ Hybridization, Fluorescence/methods , Chromosome Mapping/methods , Bone Marrow Failure Disorders/genetics , Chromosome Aberrations , Adolescent , Cytogenetic Analysis/methods , Bone Marrow Diseases/genetics , Karyotyping/methods , Young Adult
5.
J Coll Physicians Surg Pak ; 34(5): 610-613, 2024 May.
Article in English | MEDLINE | ID: mdl-38720225

ABSTRACT

OBJECTIVE: To determine whether the presence of preoperative subchondral bone marrow oedema (SBME) is associated with inferior outcomes after lateral unicompartmental knee arthroplasty (LUKA). STUDY DESIGN: Descriptive study. Place and Duration of the Study: Department of Orthopaedic Surgery, Chongqing Orthopaedic Hospital of Traditional Chinese Medicine, Chongqing, China, from January 2019 to June 2022. METHODOLOGY: Data on patients treated with LUKA were obtained from the Medical Registry Database. Two groups were made based on the presence and absence of SBME on preoperative magnetic resonance imaging (MRI). The visual analogue scale (VAS), American Knee Society Scores (AKSS), and rate of patient satisfaction were compared between the two groups. RESULTS: A total of 20 patients treated with LUKA were reviewed. The SBME was present in 9 cases and absent in 11 cases. Patients with SBME had inferior scores at preoperative evaluation and at 1, 3, and 6 months postoperatively. However, there was no significant difference between the groups at the 12-month follow-up. Eight (88.9%) patients with SBME were satisfied with the LUKA surgery versus 9 (81.8%) patients without SBME, showing no significant differences between groups. CONCLUSION: Presence of preoperative SBME is associated with inferior functional outcomes after LUKA within six months of follow-up. KEY WORDS: Bone marrow, Oedema, Knee, Arthroplasty, Outcome, Patient satisfaction.


Subject(s)
Arthroplasty, Replacement, Knee , Bone Marrow Diseases , Edema , Humans , Arthroplasty, Replacement, Knee/methods , Male , Female , Middle Aged , Edema/etiology , Aged , Bone Marrow Diseases/surgery , Treatment Outcome , Magnetic Resonance Imaging , Patient Satisfaction , Osteoarthritis, Knee/surgery , Retrospective Studies , Knee Joint/surgery , Preoperative Period , Bone Marrow/pathology , China/epidemiology
6.
NEJM Evid ; 3(6): EVIDoa2300362, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38804782

ABSTRACT

BACKGROUND: An inflammatory bone marrow microenvironment contributes to acquired bone marrow failure syndromes. CK0801, an allogeneic T regulatory (Treg) cell therapy product, can potentially interrupt this continuous loop of inflammation and restore hematopoiesis. METHODS: In this phase 1 dose-escalation study of CK0801 Treg cells, we enrolled patients with bone marrow failure syndromes with suboptimal response to their prior therapy to determine the safety and efficacy of this treatment for bone marrow failure syndromes. RESULTS: We enrolled nine patients with a median age of 57 years (range, 19 to 74) with an underlying diagnosis of aplastic anemia (n=4), myelofibrosis (n=4), or hypoplastic myelodysplasia (n=1). Patients had a median of three prior therapies for a bone marrow failure syndrome. Starting dose levels of CK0801 were 1 × 106 (n=3), 3 × 106 (n=3), and 10 × 106 (n=3) cells per kg of ideal body weight. No lymphodepletion was administered. CK0801 was administered in the outpatient setting with no infusion reactions, no grade 3 or 4 severe adverse reactions, and no dose-limiting toxicity. At 12 months, CK0801 induced objective responses in three of four patients with myelofibrosis (two had symptom response, one had anemia response, and one had stable disease) and three of four patients with aplastic anemia (three had partial response). Three of four transfusion-dependent patients at baseline achieved transfusion independence. Although the duration of observation was limited at 0.9 to 12 months, there were no observed increases in infections, no transformations to leukemia, and no deaths. CONCLUSIONS: In previously treated patients, CK0801 demonstrated no dose-limiting toxicity and showed evidence of efficacy, providing proof of concept for targeting inflammation as a therapy for bone marrow failure. (Funded by Cellenkos Inc.; Clinicaltrials.gov number, NCT03773393.).


Subject(s)
Anemia, Aplastic , Bone Marrow Failure Disorders , Humans , Middle Aged , Aged , Male , Adult , Female , Bone Marrow Failure Disorders/therapy , Anemia, Aplastic/therapy , Bone Marrow Diseases/therapy , Young Adult , Primary Myelofibrosis/therapy , T-Lymphocytes, Regulatory/immunology
7.
Comput Med Imaging Graph ; 115: 102387, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38703602

ABSTRACT

Dual-energy computed tomography (CT) is an excellent substitute for identifying bone marrow edema in magnetic resonance imaging. However, it is rarely used in practice owing to its low contrast. To overcome this problem, we constructed a framework based on deep learning techniques to screen for diseases using axial bone images and to identify the local positions of bone lesions. To address the limited availability of labeled samples, we developed a new generative adversarial network (GAN) that extends expressions beyond conventional augmentation (CA) methods based on geometric transformations. We theoretically and experimentally determined that combining the concepts of data augmentation optimized for GAN training (DAG) and Wasserstein GAN yields a considerably stable generation of synthetic images and effectively aligns their distribution with that of real images, thereby achieving a high degree of similarity. The classification model was trained using real and synthetic samples. Consequently, the GAN technique used in the diagnostic test had an improved F1 score of approximately 7.8% compared with CA. The final F1 score was 80.24%, and the recall and precision were 84.3% and 88.7%, respectively. The results obtained using the augmented samples outperformed those obtained using pure real samples without augmentation. In addition, we adopted explainable AI techniques that leverage a class activation map (CAM) and principal component analysis to facilitate visual analysis of the network's results. The framework was designed to suggest an attention map and scattering plot to visually explain the disease predictions of the network.


Subject(s)
Deep Learning , Edema , Tomography, X-Ray Computed , Humans , Tomography, X-Ray Computed/methods , Edema/diagnostic imaging , Radiography, Dual-Energy Scanned Projection/methods , Neural Networks, Computer , Bone Marrow Diseases/diagnostic imaging , Bone Marrow/diagnostic imaging , Algorithms
8.
Medicine (Baltimore) ; 103(15): e37636, 2024 Apr 12.
Article in English | MEDLINE | ID: mdl-38608065

ABSTRACT

This study aimed to investigate the clinical predictors, including traditional Chinese medicine tongue characteristics and other clinical parameters for chemotherapy-induced myelosuppression (CIM), and then to develop a clinical prediction model and construct a nomogram. A total of 103 patients with lung cancer were prospectively enrolled in this study. All of them were scheduled to receive first-line chemotherapy regimens. Participants were randomly assigned to either the training group (n = 52) or the test group (n = 51). Tongue characteristics and clinical parameters were collected before the start of chemotherapy, and then the incidence of myelosuppression was assessed after treatment. We used univariate logistic regression analysis to identify the risk predictors for assessing the incidence of CIM. Moreover, we developed a predictive model and a nomogram using multivariate logistic regression analysis. Finally, we evaluated the predictive performance of the model by examining the area under the curve value of the receiver operating characteristic, calibration curve, and decision curve analysis. As a result, a total of 3 independent predictors were found to be associated with the CIM in multivariate regression analysis: the fat tongue (OR = 3.67), Karnofsky performance status score (OR = 0.11), and the number of high-toxic drugs in chemotherapy regimens (OR = 4.78). Then a model was constructed using these 3 predictors and it exhibited a robust predictive performance with an area under the curve of 0.82 and the consistent calibration curves. Besides, the decision curve analysis results suggested that applying this predictive model can result in more net clinical benefit for patients. We established a traditional Chinese medicine prediction model based on the tongue characteristics and clinical parameters, which could serve as a useful tool for assessing the risk of CIM.


Subject(s)
Antineoplastic Agents , Bone Marrow Diseases , Lung Neoplasms , Humans , Lung Neoplasms/drug therapy , Models, Statistical , Prognosis , Tongue
9.
Arch Orthop Trauma Surg ; 144(5): 2305-2316, 2024 May.
Article in English | MEDLINE | ID: mdl-38642163

ABSTRACT

Bone marrow edema (BME) is a frequent MRI finding in patients with knee pain. According to the etiology, BME of the knee can be classified into three main categories: ischemic, mechanic, and reactive. The diagnosis may be difficult, because of the specificity of symptoms and the poor radiographic findings. MRI is the gold standard, showing an area of altered signal of the bone with an high signal intensity on fat-suppressed, T2 weighted images, usually in combination with an intermediate or low signal intensity on T1 weighted images. Bone marrow edema tends to be self-limiting and, in most cases, resolves without any consequences in a varying amount of time. However, since it may evolve to complete joint destruction, early diagnosis and correct treatment are crucial to prevent the articular degeneration. Conservative therapy is the first step, with no weight-bearing for 3 to 6 weeks on the affected side, in combination with the administration of anti-inflammatory drugs or painkillers to manage symptoms. In non-responding forms and more advanced stages, minimally invasive preservative surgery can provide significant results, with subchondroplasty and core decompression being the two main procedures available. Knee arthroplasty, both total (TKA) or unicompartmental (UKA), is the only effective option when the degradation of cartilage is diffuse and in patients with subchondral bone collapse.


Subject(s)
Bone Marrow Diseases , Edema , Knee Joint , Magnetic Resonance Imaging , Humans , Edema/etiology , Bone Marrow Diseases/therapy , Bone Marrow Diseases/diagnostic imaging , Bone Marrow Diseases/etiology , Knee Joint/diagnostic imaging
10.
Ann Hematol ; 103(5): 1775-1777, 2024 May.
Article in English | MEDLINE | ID: mdl-38556531

ABSTRACT

Pure red cell aplasia (PRCA) is a rare bone marrow (BM) disorder characterized by ineffective erythropoiesis, reduced reticulocyte count, normocytic anemia, and the absence of erythroid precursors. Here, we present a rare instance of PRCA occurring after ABO-matched allo-HSCT in a refractory/relapsed acute myeloid leukemia (R/R AML) patient. In this case, the patient received a combination treatment of Gilteritinib, Venetoclax, and Azacitidine. Remarkably, this treatment not only reduced myeloblasts but also facilitated the restoration of erythroid hematopoiesis.


Subject(s)
Aniline Compounds , Bone Marrow Diseases , Bridged Bicyclo Compounds, Heterocyclic , Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute , Pyrazines , Red-Cell Aplasia, Pure , Sulfonamides , Humans , Azacitidine/therapeutic use , Hematopoietic Stem Cell Transplantation/adverse effects , Red-Cell Aplasia, Pure/etiology , Leukemia, Myeloid, Acute/therapy , Leukemia, Myeloid, Acute/complications , Bone Marrow Diseases/complications
11.
Am J Hematol ; 99(6): 1066-1076, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38497679

ABSTRACT

Haploidentical stem cell transplantation (haplo-SCT) represents the main alternative for children with inherited bone marrow failure syndrome (I-BMF) lacking a matched donor. This retrospective study, conducted on behalf of the EBMT SAAWP and PDWP, aims to report the current outcomes of haplo-SCT in I-BMFs, comparing the different in vivo and ex vivo T-cell depletion approaches. One hundred and sixty-two I-BMF patients who underwent haplo-SCT (median age 7.4 years) have been registered. Fanconi Anemia was the most represented diagnosis (70.1%). Based on different T-cell depletion (TCD) approaches, four categories were identified: (1) TCRαß+/CD19+-depletion (43.8%); (2) T-repleted with post-transplant Cyclophosphamide (PTCy, 34.0%); (3) In-vivo T-depletion with ATG/alemtuzumab (14.8%); (4) CD34+ positive selection (7.4%). The cumulative incidences (CI) of neutrophil and platelet engraftment were 84% and 76% respectively, while that of primary and secondary graft failure was 10% and 8% respectively. The 100-day CI of acute GvHD grade III-IV(95% CI) was 13%, while the 24-month CI of extensive chronic GvHD was 4%. After a median follow-up of 43.4 months, the 2-year overall survival(OS) and GvHD/Rejection-free Survival (GRFS) probabilities are 67% and 53%, respectively. The TCR CD3+αß+/CD19+ depletion group showed a significantly lower incidence of both acute and chronic GvHD and higher OS (79%; p0.013) and GRFS (71%; p < .001), while no significant differences in outcomes have been observed by different diagnosis and conditioning regimens. This large retrospective study supports the safety and feasibility of haplo-SCT in I-BMF patients. TCRαß+/CD19+ depletion offers higher chances of patients' survival, with a significantly lower risk of severe a- and c-GvHD in I-BMFs compared to other platforms.


Subject(s)
Anemia, Aplastic , Humans , Child , Retrospective Studies , Male , Female , Child, Preschool , Adolescent , Anemia, Aplastic/therapy , Infant , Hematopoietic Stem Cell Transplantation , Graft vs Host Disease/etiology , Graft vs Host Disease/prevention & control , Bone Marrow Failure Disorders , Transplantation, Haploidentical , Lymphocyte Depletion , Transplantation Conditioning/methods , Hemoglobinuria, Paroxysmal/therapy , Fanconi Anemia/therapy , Fanconi Anemia/mortality , Bone Marrow Diseases/therapy , HLA Antigens/genetics , HLA Antigens/immunology
12.
Clin Nucl Med ; 49(4): 301-307, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38427956

ABSTRACT

PURPOSE: Invasive lobular carcinoma (ILC) exhibits a low affinity for 18F-FDG. The estrogen receptor (ER) is commonly expressed in ILCs, suggesting a potential benefit of targeting with the ER probe 18F-FES in this patient population. The objective of this study was to evaluate the diagnostic performance of 18F-FES imaging in patients with metastatic ILC and compare it with that of 18F-FDG. METHODS: We conducted a retrospective analysis of 20 ILC patients who underwent concurrent 18F-FES and 18F-FDG PET/CT examinations in our center. 18F-FES and 18F-FDG imaging were analyzed to determine the total count of tracer-avid lesions in nonbone sites and their corresponding organ systems, assess the extent of anatomical regions involved in bone metastases, and measure the SUVmax values for both tracers. RESULTS: Among 20 ILC patients, 65 nonbone lesions were found to be distributed in 13 patients, and 16 patients were diagnosed with bone metastasis, which was distributed in 54 skeletal anatomical regions. The detection rate of 18F-FDG in nonbone lesions was higher than that of 18F-FES (57 vs 37, P < 0.001). 18F-FES demonstrated a superior ability to detect nonbone lesions in 4 patients, whereas 18F-FDG was superior in 5 patients (P > 0.05). Among 9/16 patients with bone metastasis, 18F-FES demonstrated a significant advantage in the detection of bone lesions compared with 18F-FDG (P = 0.05). Furthermore, patients with only 18F-FES-positive lesions (12/12) were administered endocrine regimens, whereas patients lacking 18F-FES uptake (2/3) predominantly received chemotherapy. CONCLUSIONS: 18F-FES is more effective than 18F-FDG in detecting bone metastasis in ILC, but it does not demonstrate a significant advantage in nonbone lesions. Additionally, the results of examination with 18F-FES have the potential to guide patient treatment plans.


Subject(s)
Bone Marrow Diseases , Bone Neoplasms , Breast Neoplasms , Carcinoma, Lobular , Humans , Female , Fluorodeoxyglucose F18 , Positron Emission Tomography Computed Tomography/methods , Carcinoma, Lobular/diagnostic imaging , Carcinoma, Lobular/pathology , Retrospective Studies , Receptors, Estrogen , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/drug therapy , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/drug therapy
13.
Zhonghua Yi Xue Za Zhi ; 104(7): 533-539, 2024 Feb 20.
Article in Chinese | MEDLINE | ID: mdl-38317366

ABSTRACT

Objective: To evaluate the value of virtual non-calcium (VNCa) technique of dual-energy CT (DECT) for detecting bone marrow edema (BME) around nontraumatic osteonecrosis of the femoral head (ONFH) using MRI as reference standard. Methods: Nontraumatic ONFH patients were prospectively studied in the Fourth Medical Center of Chinese PLA General Hospital from October 2022 to May 2023, and their MRI and DECT images were analyzed. The diagnostic efficiency of the subjective assessment of BME around ONFH by two radiologists in VNCa color-coded images were calculated using the MRI results as the reference standard. The BME ranges were compared between VNCa images and MRI. Traditional CT values and VNCa CT values were compared between normal bone marrow and BME. The receiver operator characteristic (ROC) curve was established based on the statistically different CT values, and the area under the curve (AUC) was calculated to find the threshold to distinguish normal bone marrow from BME and evaluate the diagnostic efficacy. Results: Thirty patients with ONFH were included, including 24 males and 6 females, aged (39±12) years. There were 18 bilateral hips and 12 unilateral hips, with a total of 48 hips, 34 hips of which showed BME on MRI. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy of subjective detection of BME on VNCa color coded maps by two physicians were 97.1% (33/34) and 97.1% (33/34), 92.9% (13/14) and 71.4% (10/14), 97.1% (33/34) and 89.2% (33/37), 92.9% (13/14) and 90.9% (10/11), 95.8% (46/48) and 89.6% (43/48), respectively, with no statistical difference (all P>0.05).There was no statistical difference between VNCa color-coded images and MRI in the BME range (P=1.160). The traditional CT values measured by the two radiologists were in good agreement with VNCa CT values, with intraclass correlation coefficient (ICC) of 0.948 (95%CI: 0.908-0.971) and 0.982 (95%CI: 0.969-0.990), respectively. The traditional CT value of normal bone marrow was (400.7±82.8) HU, and that of BME was (443.7±65.7) HU, with no statistical difference (P=0.062). The VNCa CT value of normal bone marrow was (-103.1±27.8) HU, and that of BME was (-32.9±25.7) HU, with statistical difference (P<0.001). The AUC of distinguishing normal bone marrow from BME based on VNCa CT value was 0.958 (95%CI: 0.857-0.995). The best cut-off value was -74.5 HU, and when the VNCa CT value was higher than -74.5 HU, the sensitivity, specificity, PPV, NPV and accuracy of diagnosing BME were 97.1%, 92.9%, 97.1%, 92.9% and 95.8 %, respectively. Conclusion: The VNCa technique of DECT has high efficiency in detecting BME around ONFH, and can accurately demonstrate the range of BME.


Subject(s)
Bone Marrow Diseases , Osteonecrosis , Male , Female , Humans , Bone Marrow/diagnostic imaging , Calcium , Femur Head , Sensitivity and Specificity , Tomography, X-Ray Computed/methods , Bone Marrow Diseases/diagnostic imaging , Edema/diagnostic imaging , Magnetic Resonance Imaging/methods
14.
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
16.
J Pediatr Hematol Oncol ; 46(3): e214-e219, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38408162

ABSTRACT

BACKGROUND: Multisystemic findings of inherited bone marrow failure syndromes may cause difficulty in diagnosis. Exome sequencing (ES) helps to define the etiology of rare diseases and reanalysis offers a valuable new diagnostic approach. Herein, we present the clinical and molecular characteristics of a girl who was referred for cytopenia and frequent infections. CASE REPORT: A 5-year-old girl with cytopenia, dysmorphism, short stature, developmental delay, and myopia was referred for genetic counseling. Reanalysis of the ES data revealed a homozygous splice-site variant in the DNAJC21 (NM_001012339.3:c.983+1G>A), causing Shwachman-Diamond Syndrome (SDS). It was shown by the RNA sequencing that exon 7 was skipped, causing an 88-nucleotide deletion. CONCLUSIONS: Precise genetic diagnosis enables genetic counseling and improves patient management by avoiding inappropriate treatment and unnecessary testing. This report would contribute to the clinical and molecular understanding of this rare type of SDS caused by DNAJC21 variants and expand the phenotypic features of this condition.


Subject(s)
Bone Marrow Diseases , Cytopenia , Female , Humans , Child, Preschool , Congenital Bone Marrow Failure Syndromes/genetics , Exome/genetics , Shwachman-Diamond Syndrome , Homozygote , Bone Marrow Diseases/diagnosis , Bone Marrow Diseases/genetics
18.
Int J Rheum Dis ; 27(3): e15046, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38414165

ABSTRACT

AIM: To assess the relationship between anatomical variants of sacroiliac joint (SIJ) and subchondral changes detected in magnetic resonance enterography (MRE) in patients with Crohn's disease (CD). METHODS: This was a retrospective study of 60 CD patients, who were divided into two groups: with (n = 16) and without SIJ (n = 44) involvement, depending on the presence of inflammatory (bone marrow edema) and structural changes (sclerosis and erosions) in MRE. Anatomical variants of SIJ were assessed in CT of the abdomen and/or pelvis, distinguishing typical form with convex iliac surface and atypical forms. Univariate and multivariate analyses were performed to reveal an association between joint changes and forms. RESULTS: Our study included 60 patients (38 males; mean age 38.72 years ± 13.33). Patients with SIJ changes were older (p = .044). No significant differences in CD localization and behavior were found. The most common SIJ lesions were structural changes (in 75% of patients); the main atypical form was the iliosacral complex. The univariate and multivariate analyses showed a significant association of atypical forms with total subchondral changes (odds ratio [OR]: 3.429, 95% confidence interval [CI] 1.043-11.268; p = .042; OR: 5.066, 95% CI: 1.273-20.167; p = .021, respectively), and with structural changes (OR: 4.185, 95% CI: 1.155-15.160; p = .029; OR: 5.986, 95% CI: 1.293-27.700; p = .022, respectively). CONCLUSION: Atypical forms of SIJ are a risk factor for the occurrence of structural joint changes in CD patients. An association between bone marrow edema and atypical forms was not found.


Subject(s)
Bone Marrow Diseases , Crohn Disease , Male , Humans , Adult , Sacroiliac Joint/diagnostic imaging , Sacroiliac Joint/pathology , Crohn Disease/diagnostic imaging , Retrospective Studies , Magnetic Resonance Imaging , Bone Marrow Diseases/diagnostic imaging , Bone Marrow Diseases/etiology , Edema/diagnostic imaging , Edema/pathology
19.
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
20.
Br J Radiol ; 97(1156): 705-715, 2024 Mar 28.
Article in English | MEDLINE | ID: mdl-38291893

ABSTRACT

Dual-energy CT (DECT) is an exciting application in CT technology conferring many advantages over conventional single-energy CT at no additional with comparable radiation dose to the patient. Various emerging and increasingly established clinical DECT applications in musculoskeletal (MSK) imaging such as bone marrow oedema detection, metal artefact reduction, monosodium urate analysis, and collagen analysis for ligamentous, meniscal, and disc injuries are made possible through its advanced DECT post-processing capabilities. These provide superior information on tissue composition, artefact reduction and image optimization. Newer DECT applications to evaluate fat fraction for sarcopenia, Rho/Z application for soft tissue calcification differentiation, 3D rendering, and AI integration are being assessed for future use. In this article, we will discuss the established and developing applications of DECT in the setting of MSK radiology as well as the basic principles of DECT which facilitate them.


Subject(s)
Bone Marrow Diseases , Musculoskeletal Diseases , Radiography, Dual-Energy Scanned Projection , Humans , Tomography, X-Ray Computed/methods , Radiography, Dual-Energy Scanned Projection/methods , Musculoskeletal Diseases/diagnostic imaging , Uric Acid
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