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1.
Mod Rheumatol ; 33(4): 811-816, 2023 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-35819010

RESUMO

OBJECTIVES: Rice body (RB) formation is an uncommon inflammatory process seen in systemic disorders. In this study, we aimed to assess characteristic features of RBs in pediatric patients. METHOD: We retrospectively evaluated pediatric patients who underwent joint/extremity magnetic resonance imaging. A systematic literature review was conducted for articles including children with RBs. RESULTS: We found 24 patients (median age 6.1 years; F/M = 2.4) with RBs [23 with juvenile idiopathic arthritis (JIA) and one with arthralgia]. The most prevalent location for RBs was the knee joint (75%). RBs were most frequently seen as diffuse multiple millimetric structures. In three out of five patients with follow-up magnetic resonance imaging, resolution or regression of RBs was observed without surgical intervention. Our literature search identified 13 pediatric patients with RBs. Most (84.6%) had JIA, and the knee joint (71.4%) was the most commonly affected joint. Surgery was preferred in our 3 patients (12.5%) and 10 literature patients (83.3%) in the treatment. CONCLUSION: Our results showed that RBs were most commonly detected in the knee joint, and most cases were secondary to JIA. Although surgery is used as a treatment option, we observed that RBs can occasionally disappear during follow-up without surgical intervention.


Assuntos
Artrite Juvenil , Doenças Reumáticas , Humanos , Criança , Estudos Retrospectivos , Doenças Reumáticas/complicações , Artrite Juvenil/complicações , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Articulação do Joelho/patologia , Imageamento por Ressonância Magnética/métodos
2.
J Magn Reson Imaging ; 55(2): 594-607, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34399016

RESUMO

BACKGROUND: Several functional imaging techniques, including monoexponential diffusion-weighted imaging (m-DWI), intravoxel incoherent motion (IVIM), and diffusion kurtosis (DK) imaging, have been used in differentiating benign and malignant musculoskeletal tumors. Combining all three techniques in the same study population may improve differentiation. PURPOSE: To compare the diagnostic performance of m-DWI, IVIM, and DK models and their combinations in differentiating benign and malignant musculoskeletal tumors. STUDY TYPE: Prospective. POPULATION: Fifty patients with benign and malignant musculoskeletal tumors divided into nonmyxoid and nonchondroid and myxoid and/or chondroid subgroups. FIELD STRENGTH/SEQUENCE: A 1.5 T/m-DWI, IVIM, and DK single-shot spin-echo echo-planar sequences. ASSESSMENT: Minimum and volumetric values of apparent diffusion coefficient (ADC), pure molecular diffusion (Divim ), pseudodiffusion (D*), perfusion fraction (f), diffusion coefficient for kurtosis model (DK ), and Kurtosis (K) were compared between all benign and malignant tumors. Subgroup analysis was also performed for nonmyxoid and nonchondroid and myxoid and/or chondroid tumors. STATISTICAL TESTS: Independent samples t-test, Mann-Whitney U test, intraclass correlation coefficient, ROC analysis, and logistic regression analysis. A P value < 0.05 was considered statistically significant. RESULTS: ADCmin , Divim-min , D*vol , DK-min, Kvol, and Kmin values showed statistically significant differences between all benign and malignant tumors and nonmyxoid and nonchondroid tumor subgroup. Kmin showed the highest diagnostic performance in differentiating benign and malignant tumors with AUCs of 0.760 for "all tumors" and 0.825 for the nonmyxoid and nonchondroid tumor subgroup. No significant differences were detected in m-DWI-, IVIM-, and DK-derived parameters for differentiating benign and malignant myxoid and/or chondroid tumors. Only three of 63 combinations of prediction models demonstrated a higher diagnostic performance than Kmin ; however, improvements were not significantly different. DATA CONCLUSION: ADCmin , Divim-min , D*vol , DK-min , Kvol , and Kmin values can be used to differentiate benign and malignant musculoskeletal tumors. Our findings suggest that the added value of multiparametric approach in such differentiation is not significant. EVIDENCE LEVEL: 1 TECHNICAL EFFICACY: Stage 2.


Assuntos
Imagem de Difusão por Ressonância Magnética , Neoplasias , Humanos , Movimento (Física) , Estudos Prospectivos , Reprodutibilidade dos Testes
3.
Rheumatol Int ; 42(3): 519-527, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34115188

RESUMO

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease of childhood. Enthesitis-related arthritis (ERA) has been one of the most controversial subtypes of JIA with a higher risk of axial involvement.  Our aim was to assess the frequency and spectrum of MRI findings of spine involvement in patients with JIA and determine if the axial involvement is always clinically symptomatic in patients with positive MRI findings. In this retrospective cross-sectional observational study we included known or suspected JIA patients who underwent spinal MRI examination between 2015 and 2017 and followed up in the Pediatric Rheumatology outpatient clinic. The demographic and clinical data were reviewed from the medical charts and electronic records. All patients were grouped as clinically symptomatic and asymptomatic for spinal involvement and MRI findings were re-evaluated for presence of inflammatory and erosive lesions. Of the 72 JIA patients, 57 (79.2%) were diagnosed with ERA, and 15 (20.8%) with non-ERA subtypes of JIA. Overall, 49 (68%) patients with JIA had positive spinal MRI findings (inflammatory and/or erosive lesions). Twenty-seven (47%) ERA patients were clinically symptomatic for spine involvement and among them, 19 (70.3%) had positive spinal MRI findings. Although 30 ERA (53%) patients were clinically asymptomatic, 23 of them (77%) had positive spinal MRI findings, as well. Eleven (73%) patients diagnosed with non-ERA JIA subtypes were clinically symptomatic for spine involvement at the time of MRI. Among them, four (36.3%) had inflammatory and/or erosive lesions on spine MRI. Four (26%) non-ERA patients were clinically asymptomatic for spine involvement, but three (75%) of them showed positive findings on spinal MRI. Inflammatory and/or erosive lesions of the thoracolumbar spine could exist in patients with JIA, regardless of the presence of symptoms. Not only because the significant proportion of ERA patients show asymptomatic axial involvement but also the presence of axial involvement in patients who were classified as non-ERA depending on current ILAR classification underlines the necessity of using MRI for accurate classification of patients with JIA.


Assuntos
Artrite Juvenil/fisiopatologia , Coluna Vertebral/patologia , Adolescente , Artrite Juvenil/classificação , Artrite Juvenil/complicações , Criança , Estudos Transversais , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Coluna Vertebral/diagnóstico por imagem
4.
Ann Diagn Pathol ; 55: 151809, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34482218

RESUMO

Poorly differentiated chordoma is a newly recognized entity in the recent World Health Organization (WHO) classification of tumors of soft tissue and bone. Slightly over 60 such cases have been documented. Herein, we present a clinicopathological profile, including radiological features, of nine cases, which occurred in five males and four females, with age varying from 1 to 29 years (median = 43), in the cervical spine (n = 2), skull base (n = 2), clivus (n = 2), thoracic spine (n = 1) lumbar spine (n = 1) and coccyx (n = 1) Average tumor size was 4.8 cm. None of the 6-referral cases was diagnosed as a poorly differentiated chordoma at the referring laboratory. Histopathologically, all cases displayed a cellular tumor comprising polygonal cells (n = 9) displaying moderate to marked nuclear pleomorphism with prominent nucleoli (n = 7), eosinophilic (n = 9) to vacuolated cytoplasm (n = 7), rhabdoid morphology (n = 4), interspersed mitotic figures (n = 5), focal necrosis (n = 6) and inflammatory cells (n = 9). A single tumor displayed areas resembling classic chordoma, transitioning into poorly differentiated areas. There were multinucleate giant cells and physaliphorous cells in two tumors, each, respectively. Immunohistochemically, tumor cells were positive for AE1/AE3 (7/7), EMA (7/7), cytokeratin (CK) MNF116 (1/1), OSCAR (1/1), brachyury (9/9, diffusely), S100P (4/7, mostly focally), and glypican 3(2/4). SMARCB1/INI1 was completely lost in all nine tumors. A single case tested by FISH showed homozygous deletion of the SMARCB1 gene. Therapeutically (n = 7), all patients were treated with surgical resection (invariably incomplete) (n = 5), followed by adjuvant radiation therapy (n = 4) and chemotherapy (n = 4). While a single patient partially responded to treatment and another patient is alive with no evidence of disease after 23 years, three patients died of disease, six, eight, and 11 months post-diagnosis, despite adjuvant treatments. A single patient presented with a metastatic lung nodule, while another developed widespread metastasis. Poorly differentiated chordomas display a spectrum of features, are associated with a lower index of suspicion for a diagnosis, and display aggressive outcomes. Critical analysis of radiological and histopathological features, including necessary immunostains (brachyury and SMARCB1/INI1), is necessary for their timely diagnosis. These tumors show loss of SMARCB1/INI1 immunostaining and homozygous deletion of INI1/SMARCB1 gene.


Assuntos
Cordoma , Proteína SMARCB1 , Adolescente , Adulto , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Criança , Pré-Escolar , Cordoma/diagnóstico , Cordoma/diagnóstico por imagem , Cordoma/genética , Cordoma/patologia , Feminino , Humanos , Imuno-Histoquímica , Lactente , Masculino , Metástase Neoplásica/patologia , Proteína SMARCB1/análise , Proteína SMARCB1/genética , Deleção de Sequência
5.
Neuropediatrics ; 51(6): 445-449, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32663882

RESUMO

The genetic etiology of collagen VI related muscular dystrophies is heterogenous. Genomic deletions in one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic variant in the second nondeleted allele have been described in the etiology. We aimed to report the clinical and molecular findings of a 13-year-old boy with ring chromosome 21 who presented to our clinic with easy fatigability, muscle weakness, and waddling gait. Phenotypic delineation along with chromosomal microarray analysis and DNA sequencing were performed. Affymetrix CytoScan Optima array platform and DNA sequencing revealed a 2,202 kb de novo deletion at 21q22.3, including COL6A1 and COL6A2, and a novel heterozygous variant at position c.2875G > A;p.(Glu959Lys) in COL6A2, respectively. Before his admission to our center, the patient was evaluated for hypotonia elsewhere when he was 15 months old. He was diagnosed with ring chromosome 21 on peripheral blood karyotype analysis; however, no further assessment was performed at that time. He had normal growth with mild dysmorphic facial features, distal laxity, gastrocnemius hypertrophy, proximal muscle weakness, increased lordotic posture with mild flexion contractures at the knees, and gait disturbance. Although the phenotype does not fit into classical Ullrich congenital muscular dystrophies, muscle magnetic resonance imaging (MRI) revealed a complementary pattern consistent with collagen VI related myopathies. Genetic testing confirmed the clinical diagnosis as well. This patient yet represents another example of the effect of large genomic deletions leading to recessive disorders through unmasking a pathogenic variant in the second nondeleted allele.


Assuntos
Deleção Cromossômica , Colágeno Tipo VI/genética , Distrofias Musculares/genética , Adolescente , Cromossomos Humanos Par 21/genética , Contratura/complicações , Humanos , Masculino , Distrofias Musculares/complicações , Distrofias Musculares/patologia , Cromossomos em Anel
6.
Pediatr Blood Cancer ; 65(4)2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29286564

RESUMO

BACKGROUND: Aneurysmal bone cyst (ABC) is a benign bone tumor. Curettage and bone grafting is the common treatment. Here, we retrospectively evaluate nine patients treated with denosumab. PROCEDURE: Nine patients with ABC, mostly pelvic and vertebral, treated with denosumab were analyzed retrospectively. A 70 mg/m2 denosumab dose was used weekly in the first month, and then monthly. Clinical and radiological responses to treatment were evaluated. RESULTS: In all patients, clinical symptoms including pain and limping regressed completely within 3 months. Radiological evaluation revealed changes in lesion size and content. In six patients, overall volume reduction in the range of 18-82% was detected. Decreases in the size and number of cysts were detected in eight patients. In five patients, fat signal appeared on follow-up imaging. No major side effects were observed during treatment. Median follow-up time after treatment was 15 months. At 5 months, severe hypercalcemia was observed in two patients due to rebound increase in osteoclastic activity. Subsequent to denosumab treatment, three patients underwent surgery for clinical or radiological recurrence. CONCLUSIONS: Our results showed that denosumab provided a meaningful clinical and radiological improvement in ABC. It may be a treatment option, especially in spinal and pelvic tumors with potentially high surgical morbidity. However, late rebound hypercalcemia may restrict its use. Studies with more cases are required for routine use of denosumab in ABC.


Assuntos
Cistos Ósseos Aneurismáticos , Denosumab/administração & dosagem , Tomografia Computadorizada por Raios X , Adolescente , Cistos Ósseos Aneurismáticos/diagnóstico por imagem , Cistos Ósseos Aneurismáticos/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos
7.
J Comput Assist Tomogr ; 38(2): 320-4, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24378896

RESUMO

OBJECTIVE: The aim of this study was to use the T2*-iterative decomposition of water and fat with echo asymmetry and least squares estimation quantification (IDEAL) technique to estimate vertebral fat fraction (FF) and compare it with bone mineralization levels in females. MATERIALS AND METHODS: Forty-five (mean age, 49.5 years) consecutive women who underwent magnetic resonance imaging and spinal dual-energy x-ray absorptiometry bone mineral density (BMD) examination constituted the study population. Depending on t scores derived from dual-energy x-ray absorptiometry, the vertebrae were classified into 3 groups (1, healthy; 2, osteopenia; and 3, osteoporosis). The Spearman ρ test was used to investigate the presence of correlation between FF and BMD. Analysis of covariance was performed to compare the differences among the groups. The FF cutoff value for the prediction of osteoporosis/osteopenia was evaluated with the receiver operating characteristic curve analysis. RESULTS: We found a moderate negative correlation between BMD (grams per square centimeter) and FF (r = - 0.42), and it was statistically significant (P < 0.001). The FF mean of age-corrected group 1 (45.17%; SD, 1.3) was lower than that of groups 2 (51.77%; SD, 0.69) and 3 (50.82%; SD, 1.5), and the difference was statistically significant (P < 0.001, P = 0.021). The area under the receiver operating characteristic curve for FF was 0.80 (95% confidence interval, 0.72-0.86). The optimal cutoff point was obtained as 39%, and for this cutoff point, the sensitivity and the specificity were 93% and 60.3%, respectively. CONCLUSIONS: The T2*-IDEAL technique can be used as an alternative technique in estimation of FF, and it is possible to detect reduced bone mineralization of the vertebrae by estimation of FF value with this technique.


Assuntos
Tecido Adiposo/patologia , Densidade Óssea , Doenças Ósseas Metabólicas/diagnóstico , Imageamento por Ressonância Magnética/métodos , Osteoporose/diagnóstico , Doenças da Coluna Vertebral/diagnóstico , Absorciometria de Fóton , Adulto , Feminino , Humanos , Imageamento Tridimensional , Pessoa de Meia-Idade
8.
Pediatr Radiol ; 44(11): 1458-61, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24801817

RESUMO

Intraosseous pseudotumor (i.e. chronic, encapsulated, hemorrhagic fluid collection that can be seen in any portion of the tubular bones) is an uncommon complication of severe hemophilia; however, it can occur with other rare bleeding disorders. We present the case of an 11-year-old girl with hypofibrinogenemia who had multiple intramedullary lesions that were consistent with intramedullary pseudotumor associated with this rare bleeding disorder. Percutaneous biopsy of a pseudotumor is contraindicated due to the high prevalence of complications, including life-threatening bleeding. Therefore, radiologists should make the diagnosis with characteristic MR imaging findings in a patient with a severe coagulation disorder.


Assuntos
Afibrinogenemia/congênito , Imageamento por Ressonância Magnética/métodos , Osteólise/etiologia , Osteólise/patologia , Afibrinogenemia/complicações , Afibrinogenemia/patologia , Afibrinogenemia/terapia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Osteólise/terapia
9.
Surg Radiol Anat ; 36(5): 503-5, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24026392

RESUMO

PURPOSE: Os intermetatarseum is a rare accessory bone of the forefoot and usually situated between the base of the first and second metatarsals. Most of the cases are asymptomatic and diagnosed incidentally. Here, we report a rare form of os intermetatarseum presented with bilateral dorsal foot pain and to the authors' knowledge, it is the first case which includes computerized tomography (CT) and magnetic resonance imaging (MRI) findings. METHODS: A 23-year-old male complained of localized bump at the dorsum of the both feet underwent bilateral anteroposterior foot radiograms which was unremarkable and then CT and MRI were performed. RESULTS: MRI of both feet demonstrated osseous structures in relation with medial os cuneiforme. Computerized tomography demonstrated bilateral os intermetatarsea fused with medial os cuneiforme. CONCLUSIONS: It is important for radiologist to know that os intermetatarseum can be presented as dorsal foot pain. Due to its position, it is difficult to demonstrate os intermetatarseum in plain radiographs, CT and MRI should be performed in clinically suggestive cases.


Assuntos
Ossos do Metatarso/anormalidades , Humanos , Masculino , Ossos do Metatarso/diagnóstico por imagem , Dor/etiologia , Radiografia , Adulto Jovem
10.
Sports Health ; 16(1): 97-108, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-36872599

RESUMO

BACKGROUND: Although exercise interventions are recommended in the management of subacromial pain syndrome (SPS), there is a lack of data regarding the exercises focusing on the principal biomechanical deficiencies that cause symptoms. HYPOTHESIS: Utilizing progressive scapula retraction exercises (SRE) and glenohumeral rotation exercises (GRE) in the scapula stabilization program may lead to more reduction in symptoms and greater acromiohumeral distance (AHD) values. STUDY DESIGN: A double-blind, randomized controlled trial. LEVEL OF EVIDENCE: Level 2. METHODS: A total of 33 patients were assigned randomly to either SRE or SRE+GRE. Both groups received a 12-week supervised rehabilitation program, including manual therapy and exercises (stretching and progressive scapula stabilization exercises). In addition, the SRE+GRE group performed GRE exercises at gradual elevation angles. From 12 to 24 weeks, patients performed exercise programs less frequently (3 times per week). Disability (shoulder pain and disability index [SPADI]), AHD (at 5 active abduction angles), pain intensity (visual analogue scale [VAS]), and patient satisfaction were recorded at baseline, 12 weeks, and 24 weeks. A total of 16 healthy individuals were recruited as a control group to compare AHD values. Data were analyzed using mixed model analyses of variance. RESULTS: A statistically significant group-by-time interaction was found for AHD values (F4,92 = 6.38; P = 0.001), a significant group-by-time interaction for SPADI-disability (F1,33 = 5.148; P = 0.01), SPADI-total (F1,32 = 4.172; P = 0.03), and for pain during activity (F2,62 = 3.204; P = 0.05). However, no significant group-by-time interaction for SPADI-pain (F1,33 = 0.533; P = 0.48), for pain at rest (F1,31 < 0.001; P = 0.99), and at night (F1,32 = 2.166; P = 0.15). Yet, a significant time effect was observed. CONCLUSION: Progressive SRE and GRE in the scapula stabilization program lessens symptoms and improves AHD values in patients with SPS. Moreover, this program could preserve outcomes and further increase AHD when applied less frequently. CLINICAL RELEVANCE: Utilizing SRE and GRE in the scapula stabilization program at gradual shoulder abduction angles provides better rehabilitation outcomes.


Assuntos
Síndrome de Colisão do Ombro , Humanos , Síndrome de Colisão do Ombro/terapia , Síndrome de Colisão do Ombro/diagnóstico , Escápula , Ombro , Terapia por Exercício , Dor de Ombro/terapia
11.
Diagn Interv Radiol ; 29(2): 390-395, 2023 03 29.
Artigo em Inglês | MEDLINE | ID: mdl-36988050

RESUMO

PURPOSE: Apart from a few case reports, sacroiliac joint (SIJ) involvement in osteochondromatosis has not been studied. We aimed to determine the prevalence and characteristics of such involvement using cross-sectional imaging. METHODS: In this retrospective study, three observers (one junior radiologist and two musculoskeletal radiologists) independently reviewed computed tomography (CT) or magnetic resonance imaging (MRI) of patients in our database who had osteochondromatosis (≥2 osteochondromas across the skeleton) for SIJ involvement. The final decision was reached by the consensus of the two musculoskeletal radiologists in a later joint session. RESULTS: Of the 36 patients with osteochondromatosis in our database, 22 (61%) had cross-sectional imaging covering SIJs (14 females, 8 males; age range 7-66 years; mean age 23 years; 13 MRI, 9 CT). Of these, 16 (73%) had intra-articular osteochondromas. For identifying SIJ osteochondromas on cross-sectional imaging, interobserver agreement was substantial [κ = 0.67; 95% confidence interval (CI): 0.34, 1.00] between the musculoskeletal radiologists and moderate (κ = 0.59; 95% CI: 0.23, 0.94) between the junior radiologist and the final consensus decision of the two musculoskeletal radiologists. In the cohort with cross-sectional imaging, the anatomical variations of the accessory SIJ (n = 6, 27%) and iliosacral complex (n = 2, 9%) were identified in six different patients with (n = 2) and without (n = 4) sacroiliac osteochondromas. CONCLUSION: Cross-sectional imaging shows frequent (73%) SIJ involvement in osteochondromatosis, which, although a rare disorder, nevertheless needs to be considered in the differential diagnosis of such SIJ anatomical variants as the accessory SIJ and iliosacral complex. Differentiating these variants from osteochondromas is challenging in patients with osteochondromatosis.


Assuntos
Osteocondroma , Osteocondromatose , Masculino , Feminino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Articulação Sacroilíaca/diagnóstico por imagem , Articulação Sacroilíaca/patologia , Prevalência , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Osteocondromatose/patologia , Osteocondroma/patologia
12.
Int J Surg Pathol ; 31(7): 1244-1264, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36591870

RESUMO

Introduction BCOR::CCNB3-positive undifferentiated sarcomas are rare. Herein, we present clinicopathological features including immunohistochemical and molecular data, along with the radiological profile of 12 such tumors. Methods Tumors were tested for BCOR::CCNB3 fusion by reverse transcription polymerase chain reaction (RT-PCR) technique. Eight tumors were tested for EWSR1 and three for SS18 gene rearrangements by fluorescence in situ hybridization, and two for SS18::SSX fusion by fragment analysis. Results Ten of 12 patients were male with ages ranging between 4 and 17 years (median = 13, average = 14.4). Nine tumors occurred in bones and three in soft tissues (median size = 8 cm). Four of five tumors within the appendicular bones were metadiaphyseal and appeared as permeative lesions, invariably associated with cortical thickening. Three tumors displayed mineralization. Histopathologically, the tumors comprised round to epithelioid cells with round to oval to spindle-shaped nuclei, mostly diffusely arranged in a myxoid stroma with intervening thin-walled vessels. Immunohistochemically, tumor cells were positive for BCOR (10/11), SATB2 (8/9), TLE1 (5/6), cyclinD1 (4/4), and EMA (3/8). All tumors revealed BCOR::CCNB3 fusion transcript. Nine patients underwent neoadjuvant chemotherapy, including five who underwent surgical resection, with two patients, who received adjuvant radiation therapy. A single patient, each, underwent palliative chemotherapy and palliative radiotherapy, respectively. Four patients developed pulmonary metastasis and three developed local recurrences. Four patients were alive-with-disease and two were free-of-disease. Conclusions It is crucial to identify BCOR::CCNB3 fusion-positive sarcomas, given significant treatment-associated implications. Certain clinicoradiological, histopathological features, absent EWSR1 rearrangement and BCOR, SATB2, and TLE1 immunoexpression are useful for triaging these tumors for molecular testing. A review of the literature on these ultra-rare tumors, including their diagnostic mimics is presented.


Assuntos
Sarcoma , Neoplasias de Tecidos Moles , Humanos , Masculino , Feminino , Hibridização in Situ Fluorescente , Proteínas Repressoras/genética , Proteínas Repressoras/análise , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/análise , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Fatores de Transcrição/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Proteínas de Fusão Oncogênica/genética , Ciclina B/genética
13.
Diagn Interv Radiol ; 27(3): 450-457, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34003131

RESUMO

PURPOSE: Children with brachial plexus birth injury (BPBI) may eventually develop glenohumeral instability due to development of unbalanced muscular strength. Our major goal in this study is to compare the accuracy of physical examination and ultrasonography (US) in determination of glenohumeral instability in infants with BPBI compared with magnetic resonance imaging (MRI) as a gold standard, and to investigate the role and value of US as a screening modality for assessing glenohumeral instability. METHODS: Forty-two consecutive patients (mean age, 2.3±0.8 months) with BPBI were enrolled into this prospective study. Patients were followed up with physical examination and US with dynamic evaluation in 4-6 weeks intervals. Patients who developed glenohumeral instability based on physical examination and/or US (n=21) underwent MRI. Glenohumeral instability was defined as alpha angle >30° and percentage of posterior humeral head displacement >50%. Diagnostic accuracy of physical examination and US was calculated and quantitative parameters were compared with Wilcoxon test. RESULTS: Glenohumeral instability was confirmed with MRI in 15 of 21 patients. Accuracy and sensitivity of physical examination and US were 47%, 66% and 100%, 100%, respectively in determination of glenohumeral instability. No significant difference was found for the alpha angle (p = 0.173) but the percentage of posterior humeral head displacement was statistically significant between US and MRI (p = 0.028). CONCLUSION: Our results indicate that US with dynamic evaluation is a good alternative for MRI in assessment of glenohumeral instability in infants with BPBI, since it is highly accurate and specific, and quantitative measurements used for glenohumeral instability were comparable to MRI. US can be used as a screening method to assess glenohumeral instability in infants with BPBI.


Assuntos
Plexo Braquial , Articulação do Ombro , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Paralisia , Gravidez , Estudos Prospectivos , Ombro , Articulação do Ombro/diagnóstico por imagem , Ultrassonografia
14.
Pediatr Blood Cancer ; 54(4): 618-20, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19998472

RESUMO

Congenital infantile fibrosarcoma (CIF) is a rare tumor in childhood. The 5-year survival rate for CIFs is high and has been reported between 84% and 93%, but limb-amputation/disarticulation is still a major problem. We report the case of a male newborn with a mass in his right foot. X-ray and MRI revealed a mass destroying all tarsal, metatarsal, and phalangeal bones. The patient was treated only with VAC chemotherapy and is able to walk normally.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Fibrossarcoma/congênito , Fibrossarcoma/tratamento farmacológico , Pé/patologia , Neoplasias de Tecidos Moles/congênito , Neoplasias de Tecidos Moles/tratamento farmacológico , Ciclofosfamida/uso terapêutico , Dactinomicina/uso terapêutico , Humanos , Recém-Nascido , Masculino , Vincristina/uso terapêutico
16.
Clin Nucl Med ; 32(8): 599-602, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17667430

RESUMO

We present plain x-ray examination, bone scintigraphy, computed tomography, and magnetic resonance imaging of 2 patients diagnosed with prostate cancer who complained of hip pain. Bone scintigraphy was suggestive for metastases. Further radiologic investigation revealed benign etiologies for the hip pain; calcific tendinitis of the vastus lateralis and tendonosis of the gluteus medius tendon were visualized.


Assuntos
Diagnóstico por Imagem/métodos , Neoplasias Femorais/diagnóstico , Neoplasias Femorais/secundário , Dor/diagnóstico , Neoplasias da Próstata/diagnóstico , Tendinopatia/diagnóstico , Diagnóstico Diferencial , Reações Falso-Positivas , Humanos , Masculino , Pessoa de Meia-Idade
17.
Diagn Interv Radiol ; 22(6): 566-573, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27538047

RESUMO

Although generally more common in adults, lower extremity impingement and friction syndromes are also observed in the pediatric age group. Encompassing femoroacetabular impingement, iliopsoas impingement, subspine impingement, and ischiofemoral impingement around the hip; patellar tendon-lateral femoral condyle friction syndrome; iliotibial band friction syndrome; and medial synovial plica syndrome in the knee as well as talocalcaneal impingement on the hindfoot, these syndromes frequently cause pain and may mimic other, and occasionally more ominous, conditions in children. Magnetic resonance imaging (MRI) plays a key role in the diagnosis of musculoskeletal impingement and friction syndromes. Iliopsoas, subspine, and ischiofemoral impingements have been recently described, while some features of femoroacetabular and talocalcaneal impingements have recently gained increased relevance in the pediatric population. Fellowship-trained pediatric radiologists and radiologists with imaging workloads of exclusively or overwhelmingly pediatric patients (particularly those without a structured musculoskeletal imaging program as part of their imaging training) specifically need to be aware of these rare syndromes that mostly have quite characteristic imaging findings. This review highlights MRI features of lower extremity impingement and friction syndromes in children and provides updated pertinent pathophysiologic and clinical data.


Assuntos
Artropatias/diagnóstico por imagem , Extremidade Inferior/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adolescente , Feminino , Impacto Femoroacetabular/diagnóstico por imagem , Humanos , Masculino
18.
J Belg Soc Radiol ; 100(1): 78, 2016 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-30038989

RESUMO

PURPOSE: To investigate efficacy and safety of ultrasonography-guided local corticosteroid and anesthetic injection followed by physical therapy for the management of quadriceps fat pad (QFP) edema. MATERIALS AND METHODS: We prospectively evaluated 1671 knee MRI examinations in 1542 patients for QFP edema with mass effect, which was present in 109 (6.5%) knees. Participants were assigned into injection and therapy groups (both received the same physical therapy program). Injection group was first treated with ultrasonography-guided QFP injection of 1 mL corticosteroid and 1 mL local anesthetic agent. Patients were evaluated at baseline and 1-, 2-, 6-month follow-up for pain using static and dynamic visual analogue scale (VAS), suprapatellar tenderness, and QFP edema on MRI. RESULTS: Final sample size consisted of 19 knees (injection group, 10; therapy group, 9) in 17 patients. An overall improvement was detected in both groups between baseline and final assessments. The injection group fared better than the therapy group in static VAS scores (3.33 ± 1.70 versus 0.56 ± 1.33), while there was no such difference for dynamic VAS. Incidence of suprapatellar tenderness decreased in both groups, statistically significantly in the injection group (from 100% to 0%). Pain reduction was greater in the injection group at the first month (88.9% - 90% good response versus 50% - 66.7% good response, static-dynamic VAS scoring, respectively), whereas there was no such superiority at the sixth month. No severe adverse events were identified. CONCLUSION: Ultrasonography-guided local injection followed by physical therapy is safe in the management of QFP edema; however, it is not superior to stand-alone physical therapy program in the long term.

19.
Diagn Interv Radiol ; 20(6): 507-10, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25205022

RESUMO

ABduction and External Rotation (ABER) sequence in magnetic resonance (MR) arthrography of the shoulder is particularly important to better depict abnormal conditions of some glenohumeral joint structures and surrounding tissues by making imaging possible under a stress position relevant to pathologic conditions. Among the structures and tissues better depicted in this position are articular surface of the supraspinatus tendon, anteroinferior portion of the glenoid labrum, and anterior band of the inferior glenohumeral band. Despite these benefits of the ABER sequence, it is either not being used extensively as part of shoulder MR arthrograms or, when utilized, not properly assessed, mostly due to some practical difficulties in setting up the sequence and unfamiliarity with the alignment of structures displayed on MR images. In this technical note, we aimed to explain the ABER sequence planning in a step-by-step manner with emphasis on scout series set-up, and also present an outline of anatomic landmarks seen on ABER images.


Assuntos
Artrografia/métodos , Imageamento por Ressonância Magnética/métodos , Articulação do Ombro/fisiologia , Humanos , Rotação , Articulação do Ombro/anormalidades , Articulação do Ombro/anatomia & histologia , Articulação do Ombro/diagnóstico por imagem
20.
Diagn Interv Radiol ; 20(3): 271-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24378991

RESUMO

PURPOSE: The purposes of this study were to assess the presence of cam and pincer morphology in asymptomatic individuals with a negative femoroacetabular impingement test, and to determine and compare the ranges of alpha angle using two measurement methods. MATERIALS AND METHODS: In total, 68 consecutive patients who underwent abdominopelvic computed tomography (CT) for reasons other than hip problems were the patient population. Patients who had a positive femoroacetabular impingement test were excluded. Alpha angle measurements from axial oblique (AN) and radial reformat-based images (AR) from the anterior through the superior portion of the femoral head-neck junction, as well as femoral head-neck offset, center-edge angle, acetabular version angle measurements, and acetabular crossover sign assessment, were made. RESULTS: Overall prevalences of cam (increased alpha angle, decreased femoral head-neck offset) and pincer morphology (increased center-edge angle, decreased acetabular version) were 20.0%, 26.8%, 25.8%, and 10.2% of the hips, respectively. The mean AR ranged from 41.64° ± 4.23° to 48.13° ± 4.63°, whereas AN was 41.10° ± 4.44°. The values of AR were higher than AN, and the difference was statistically significant (P <0.001). The highest AR values were measured on images from the anterosuperior section of femoral head-neck junction. CONCLUSION: In asymptomatic subjects, higher alpha angle values were obtained from radial reformatted images, specifically from the anterosuperior portion of the femoral head-neck junction compared with the axial oblique CT images. Other measurements used for the assessment of cam and pincer morphology can also be beyond the ranges that are considered normal in the general population.


Assuntos
Impacto Femoroacetabular/diagnóstico por imagem , Articulação do Quadril/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Idoso , Doenças Assintomáticas/epidemiologia , Feminino , Impacto Femoroacetabular/complicações , Fêmur/anatomia & histologia , Fêmur/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/complicações , Osteoartrite do Quadril/patologia , Prevalência , Estudos Prospectivos
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