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1.
Semin Arthritis Rheum ; 66: 152437, 2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38564998

RESUMO

Inter-reader reliability of a new scoring system for evaluating joint inflammation and enthesitis in whole body MRI (WBMRI) in juvenile idiopathic arthritis was tested. The scoring system grades 732 item-region combinations of bone marrow and soft tissue changes for commonly involved joints and entheseal sites. Five radiologists rated 17 WBMRI scans through an online rating platform. Item-wise reliability was calculated for 117 items with non-zero scores in >10 % of readings. Interquartile ranges of the five-reader Kappa reliability coefficients were 0.58-0.73 (range: 0.36-0.88) for the joints, 0.65-0.81 (range: 0.39-0.95) for the entheses, and 0.62-0.75 (range: 0.60-0.76) for chronic nonbacterial osteomyelitis-like lesions.

2.
Phys Med Biol ; 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38648786

RESUMO

OBJECTIVE: Image quality in whole-body MRI (WB-MRI) may be degraded by faulty radiofrequency (RF) coil elements or mispositioning of the coil arrays. Phantom-based quality control (QC) is used to identify broken RF coil elements but the frequency of these acquisitions is limited by scanner and staff availability. This work aimed to develop a scan-specific QC acquisition and processing pipeline to detect broken RF coil elements, which is sufficiently rapid to be added to the clinical WB-MRI protocol. The purpose of this is to improve the quality of WB-MRI by reducing the number of patient examinations conducted with suboptimal equipment. Approach: A rapid acquisition (14 seconds additional acquisition time per imaging station) was developed that identifies broken RF coil elements by acquiring images from each individual coil element and using the integral body coil. This acquisition was added to one centre's clinical WB-MRI protocol for one year (892 examinations) to evaluate the effect of this scan-specific QC. To demonstrate applicability in multi-centre imaging trials, the technique was also implemented on scanners from three manufacturers. Main Results: Over the course of the study RF coil elements were flagged as potentially broken on five occasions, with the faults confirmed in four of those cases. The method had a precision of 80 % and a recall of 100 % for detecting faulty RF coil elements. The coil array positioning measurements were consistent across scanners and have been used to define the expected variation in signal. Significance: The technique demonstrated here can identify faulty RF coil elements and positioning errors and is a practical addition to the clinical WB-MRI protocol. This approach was fully implemented on systems from three manufacturers and partially implemented on a third. It has potential to reduce the number of clinical examinations conducted with suboptimal hardware and improve image quality across multi-centre studies.

3.
Nutr Metab (Lond) ; 21(1): 20, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38594756

RESUMO

BACKGROUND: Body composition and body fat distribution are important predictors of cardiometabolic diseases. The etiology of cardiometabolic diseases is heterogenous, and partly driven by inter-individual differences in tissue-specific insulin sensitivity. OBJECTIVES: To investigate (1) the associations between body composition and whole-body, liver and muscle insulin sensitivity, and (2) changes in body composition and insulin sensitivity and their relationship after a 12-week isocaloric diet high in mono-unsaturated fatty acids (HMUFA) or a low-fat, high-protein, high-fiber (LFHP) diet. METHODS: This subcohort analysis of the PERSON study includes 93 individuals (53% women, BMI 25-40 kg/m2, 40-75 years) who participated in this randomized intervention study. At baseline and after 12 weeks of following the LFHP, or HMUFA diet, we performed a 7-point oral glucose tolerance test to assess whole-body, liver, and muscle insulin sensitivity, and whole-body magnetic resonance imaging to determine body composition and body fat distribution. Both diets are within the guidelines of healthy nutrition. RESULTS: At baseline, liver fat content was associated with worse liver insulin sensitivity (ß [95%CI]; 0.12 [0.01; 0.22]). Only in women, thigh muscle fat content was inversely related to muscle insulin sensitivity (-0.27 [-0.48; -0.05]). Visceral adipose tissue (VAT) was inversely associated with whole-body, liver, and muscle insulin sensitivity. Both diets decreased VAT, abdominal subcutaneous adipose tissue (aSAT), and liver fat, but not whole-body and tissue-specific insulin sensitivity with no differences between diets. Waist circumference, however, decreased more following the LFHP diet as compared to the HMUFA diet (-3.0 vs. -0.5 cm, respectively). After the LFHP but not HMUFA diet, improvements in body composition were positively associated with improvements in whole-body and liver insulin sensitivity. CONCLUSIONS: Liver and muscle insulin sensitivity are distinctly associated with liver and muscle fat accumulation. Although both LFHP and HMUFA diets improved in body fat, VAT, aSAT, and liver fat, only LFHP-induced improvements in body composition are associated with improved insulin sensitivity. TRIAL REGISTRATION: NCT03708419 (clinicaltrials.gov).

4.
J Clin Med ; 13(5)2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38592011

RESUMO

PURPOSE: This systematic review evaluated whole-body MRI (WB-MRI) as a cancer screening tool for individuals carrying germline TP53 mutations, a population known to be at a significantly elevated risk of malignancy. The primary objective is to assess the diagnostic performance of WB-MRI in detecting cancer in this cohort. METHODS: PubMed, MEDLINE, EMBASE and the Cochrane Central Registry of Controlled Trials were searched until 18 August 2023. Eligible studies were selected based on predefined inclusion criteria. The data extracted included information on study characteristics, patient demographics, and the WB-MRI diagnostic performance. RESULTS: This systematic review identified eight eligible studies, comprising 506 TP53 mutation carriers. The mean age was 34.6 ± 16.3 (range 1-74) years. In total, 321/506 (63.4%) of the patients were female and 185/506 (36.6%) were male. In addition, 267/506 (52.8%) had a previous oncological diagnosis. Thirty-six new cancers were diagnosed with WB-MRI (36/506 (7.1%)). The overall pooled proportion of cancer detected on MRI was 7% (95% confidence interval 5-10). In total, 44 new lesions were picked up, as multiple lesions were found in some patients. CONCLUSION: WB-MRI is an effective cancer screening tool for TP53 mutation carriers. While these findings suggest the potential for WB-MRI to contribute to early cancer detection in this high-risk population, further research and the standardisation of protocols internationally are warranted to optimise its clinical utility.

5.
Radiography (Lond) ; 30(2): 634-640, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38335690

RESUMO

INTRODUCTION: Breast cancer is a common malignant tumor among women, and the effectiveness of diagnosing its metastasis and recurrence has been demonstrated using diffusion-weighted whole-body imaging with background body signal suppression (DWIBS). However, DWIBS causes distress to patients due to the unique circumstances of magnetic resonance imaging (MRI). This study aimed to investigate the various distress factors caused by DWIBS among women with breast cancer and assess the effectiveness of a new MRI system designed with an environment incorporating relaxing technology. METHODS: From May to September 2022, we conducted a questionnaire survey regarding DWIBS-related distress among women with breast cancer. The questionnaire was administered to participants who underwent DWIBS on a conventional MRI system (19 women) and on a new system (20 women) equipped with relaxing technology equipped features, including projection images, illumination, and sound. Participants rated the degree of various stress factors on a face-scale rating scale (0-10). The scores of both systems were compared using the Mann-Whitney U test. RESULTS: In the conventional system, women experienced distress due to MRI-specific situations, such as immobility in a confined space, noise, feeling trapped, and concerns about not moving. These results did not show a specific tendency among women with breast cancer undergoing DWIBS. For almost all distress parameters, the new system had significantly lower distress scores than the conventional system (p > 0.05). CONCLUSIONS: A comfortable environment using new and relaxing technology is effective in alleviating patient's anxiety by approaching the human senses. IMPLICATIONS FOR PRACTICE: Reducing distress caused by DWIBS among women with breast cancer could provide a comfortable examination environment, potentially assisting them during longer treatment periods.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Neoplasias da Mama/diagnóstico , Imageamento por Ressonância Magnética , Imagem Corporal Total/métodos , Sensibilidade e Especificidade , Ansiedade
6.
Clin Imaging ; 108: 110099, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38401295

RESUMO

Whole-Body Magnetic Resonance Imaging (WB-MRI) has cemented its position as a pivotal tool in oncological diagnostics. It offers unparalleled soft tissue contrast resolution and the advantage of sidestepping ionizing radiation. This review explores the diverse applications of WB-MRI in oncology. We discuss its transformative role in detecting and diagnosing a spectrum of cancers, emphasizing conditions like multiple myeloma and cancers with a proclivity for bone metastases. WB-MRI's capability to encompass the entire body in a singular scan has ushered in novel paradigms in cancer screening, especially for individuals harboring hereditary cancer syndromes or at heightened risk for metastatic disease. Additionally, its contribution to the clinical landscape, aiding in the holistic management of multifocal and systemic malignancies, is explored. The article accentuates the technical strides achieved in WB-MRI, its myriad clinical utilities, and the challenges in integration into standard oncological care. In essence, this review underscores the transformative potential of WB-MRI, emphasizing its promise as a cornerstone modality in shaping the future trajectory of cancer diagnostics and treatment.


Assuntos
Neoplasias Ósseas , Mieloma Múltiplo , Humanos , Imageamento por Ressonância Magnética/métodos , Imagem Corporal Total/métodos , Neoplasias Ósseas/patologia , Cintilografia
7.
Semin Arthritis Rheum ; 65: 152384, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38325053

RESUMO

OBJECTIVE: To develop a reference image atlas for the Outcome Measures in Rheumatology whole-body MRI scoring system for inflammation in peripheral joints and entheses (OMERACT MRI-WIPE) of the knee region. METHODS: Image examples of each pathology, location and grade, were collected and discussed at web-based, interactive meetings within the OMERACT MRI in Arthritis Working Group. Subsequently, reference images were selected by consensus. RESULTS: Reference images for each grade, pathology and location are depicted, along with definitions, reader rules and recommended MRI-sequences. CONCLUSION: The atlas guides scoring whole-body MRIs for inflammation in joints and entheses of the knee region according to MRI-WIPE methodology in clinical trials and cohorts.


Assuntos
Inflamação , Espondilartrite , Humanos , Inflamação/diagnóstico por imagem , Espondilartrite/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Imagem Corporal Total/métodos , Índice de Gravidade de Doença , Reprodutibilidade dos Testes
8.
Semin Arthritis Rheum ; 65: 152383, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38325055

RESUMO

OBJECTIVE: To develop a reference image atlas for scoring the hip/pelvis region according to the OMERACT whole-body MRI scoring system for inflammation in peripheral joints and entheses (MRI-WIPE). METHODS: We collected image examples of each pathology, location and grade, discussed them at web-based, interactive meetings and, finally, selected reference images by consensus. RESULTS: Reference images for each grade and location of osteitis, synovitis and soft tissue inflammation are provided, as are definitions, reader rules and recommended MRI-sequences. CONCLUSION: A reference image atlas was created to guide scoring whole-body MRIs for arthritis and enthesitis in the hip/pelvis region in spondyloarthritis/psoriatic arthritis clinical trials and cohorts.


Assuntos
Espondilartrite , Sinovite , Humanos , Inflamação/diagnóstico por imagem , Espondilartrite/diagnóstico por imagem , Sinovite/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Pelve/diagnóstico por imagem , Reprodutibilidade dos Testes
9.
Eur J Neurol ; 31(4): e16207, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38270354

RESUMO

BACKGROUND AND PURPOSE: Myotonia congenita (MC) is a muscle channelopathy in which pathogenic variants in a key sarcolemmal chloride channel Gene (CLCN1) cause myotonia. This study used muscle magnetic resonance imaging (MRI) to quantify contractile properties and fat replacement of muscles in a Danish cohort of MC patients. METHODS: Individuals with the Thomsen (dominant) and Becker (recessive) variants of MC were studied. Isometric muscle strength, whole-body MRI, and clinical data were collected. The degree of muscle fat replacement of thigh, calf, and forearm muscles was quantitively calculated on Dixon MRI as fat fractions (FFs). Contractility was evaluated as the muscle strength per contractile muscle cross-sectional area (PT/CCSA). Muscle contractility was compared with clinical data. RESULTS: Intramuscular FF was increased and contractility reduced in calf and in forearm muscles compared with controls (FF = 7.0-14.3% vs. 5.3-9.6%, PT/CCSA = 1.1-4.9 Nm/cm2 vs. 1.9-5.8 Nm/cm2 [p < 0.05]). Becker individuals also showed increased intramuscular FF and reduced contractility of thigh muscles (FF = 11.9% vs. 9.2%, PT/CCSA = 1.9 Nm/cm2 vs. 3.2 Nm/cm2 [p < 0.05]). Individual muscle analysis showed that increased FF was limited to seven of 18 examined muscles (p < 0.05). There was a weak correlation between reduced contractility and severity of symptoms. CONCLUSIONS: Individuals with MC have increased fat replacement and reduced contractile properties of muscles. Nonetheless, changes were small and likely did not impact clinically on their myotonic symptoms.


Assuntos
Miotonia Congênita , Humanos , Miotonia Congênita/diagnóstico , Miotonia Congênita/genética , Miotonia Congênita/patologia , Mutação , Músculo Esquelético/patologia , Força Muscular , Imageamento por Ressonância Magnética
10.
PET Clin ; 19(2): 249-260, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38199914

RESUMO

This article provides a comprehensive review of the role of 2-deoxy-2-[18F]fluoro-d-glucose (18F FDG) positron emission tomography/computed tomography (PET/CT) in multiple myeloma (MM) and related plasma cell disorders. MM is a hematologic malignancy characterized by the neoplastic proliferation of plasma cells. 18F FDG PET/CT integrates metabolic and anatomic information, allowing for accurate localization of metabolically active disease. The article discusses the use of 18F FDG PET/CT in initial diagnosis, staging, prognostication, and assessing treatment response. Additionally, it provides valuable insights into the novel imaging targets including chemokine receptor C-X-C motif 4 and CD38.


Assuntos
Mieloma Múltiplo , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Mieloma Múltiplo/diagnóstico por imagem , Fluordesoxiglucose F18 , Compostos Radiofarmacêuticos , Tomografia por Emissão de Pósitrons/métodos
11.
Skeletal Radiol ; 53(4): 769-777, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37903998

RESUMO

OBJECTIVE: The aim of this study is to evaluate neurofibromatosis type 1 (NF1) patients with whole-body MRI (WBMRI) to investigate the frequency of plexiform neurofibromas (pNFs), diffuse neurofibromas (dNFs), and malignant peripheral nerve sheath tumors (MPNSTs). MATERIALS AND METHODS: In this retrospective cross-sectional study, between the years 2015 and 2023, 83 consecutive patients with known NF1 underwent a total of 110 WBMRI screenings for MPNST using a standardized institutional protocol. The lesions are categorized as discrete lesions, pNFs, dNFs, and MPNSTs. Histopathology served as the reference standard for all MPNSTs. RESULTS: Among the 83 patients analyzed, 53 (64%) were women and 30 were men (36%) of ages 36.94±14.43 years (range, 15-66 years). Of the 83 patients, 33 have a positive family history of NF1 and positive genetic studies. Seven of 83 (8%) have only dNF, 20/83 (24%) have pNF, 28/83 (34%) have both dNF and pNF, and 28/83 (34%) have neither. Of the 83 patients, eight (9.6%) were diagnosed with nine total MPNSTs. Age range for patients with MPNSTs at time of diagnosis was 22-51, with an average age of 33.4 years. Only one MPNST (11%) developed from underlying pNF 4 years after WBMRI along the right bronchial tree. Three of eight (37.5%) patients with MPNST died within 5 years of pathologic diagnosis. CONCLUSION: This study suggests the absence of a predisposition for development of MPNST from pNFs and dNFs in the setting of NF1. As such, these lesions may not need special surveillance compared to discrete peripheral nerve sheath tumors.


Assuntos
Neoplasias de Bainha Neural , Neurofibroma Plexiforme , Neurofibroma , Neurofibromatose 1 , Neurofibrossarcoma , Masculino , Humanos , Feminino , Adulto , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/complicações , Estudos Transversais , Estudos Retrospectivos , Neurofibroma/diagnóstico por imagem , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/complicações , Neurofibroma Plexiforme/diagnóstico por imagem , Neurofibroma Plexiforme/complicações , Neoplasias de Bainha Neural/diagnóstico por imagem , Imageamento por Ressonância Magnética
12.
Clin Microbiol Infect ; 30(3): 288-295, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37597617

RESUMO

BACKGROUND: Fever of unknown origin (FUO) and inflammation of unknown origin (IUO) are diagnostic challenges that often require an extensive work-up. When first-line tests do not provide any or only misleading clues, second-line investigations such as specialized imaging techniques are often warranted. OBJECTIVES: To provide an overview of the diagnostic value of imaging techniques that are commonly used in patients with FUO/IUO. SOURCES: MEDLINE database was searched to identify the most relevant studies, trials, reviews, or meta-analyses until 31 March 2023. CONTENT: The most important types of second-line imaging tests for FUO and IUO are outlined, including [67Ga]-citrate single-photon emission computed tomography/computed tomography (CT), labelled leukocyte imaging, [18F]-fluorodeoxyglucose positron emission tomography CT ([18F]-FDG-PET), and whole-body magnetic resonance imaging. This review summarizes the diagnostic yield, extends on potential future imaging techniques (pathogen-specific bacterial imaging and [18F]-FDG-PET/magnetic resonance imaging), discusses cost-effectiveness, highlights practical implications and pitfalls, and addresses future perspectives. Where applicable, we provide additional data specifically for the infection subgroup. IMPLICATIONS: Although many imaging examinations are proven to be useful in FUO and IUO, [18F]-FDG-PET/CT is the preferred second-line test when available as it provides a high diagnostic yield in a presumably cost-effective way.


Assuntos
Febre de Causa Desconhecida , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Fluordesoxiglucose F18 , Imageamento por Ressonância Magnética , Imagem Corporal Total , Inflamação/diagnóstico , Febre de Causa Desconhecida/diagnóstico por imagem , Tomografia por Emissão de Pósitrons/métodos
13.
Rofo ; 196(3): 243-252, 2024 Mar.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-37699432

RESUMO

BACKGROUND: Chronic non-bacterial osteomyelitis (CNO) is a chronic inflammatory skeletal disease that affects particularly children and adolescents and is often diagnosed with a delay. With whole-body MRI, early diagnosis of this disease is possible in many cases. Since children and adolescents frequently present with non-specific complaints for outpatient radiological diagnosis, every radiologist should have basic knowledge of this complex clinical picture. MATERIALS: In this review the basics and current findings regarding the disease are discussed. Unusual courses are also presented. RESULTS AND CONCLUSION: With knowledge of the radiographic and MR tomographic characteristics of the mostly multifocal bone lesions, the diagnosis of CNO can be reliably made in many cases. In particular, the early use of whole-body MRI plays an important role. Thus, therapeutic delays and resulting complications and the number of unnecessary biopsies for diagnosis can be reduced.


Assuntos
Doenças Ósseas , Osteomielite , Criança , Humanos , Adolescente , Osteomielite/diagnóstico por imagem , Imageamento por Ressonância Magnética , Doença Crônica
14.
Colorectal Dis ; 26(2): 290-299, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38145899

RESUMO

AIM: The aim was to explore how findings of whole-body MRI including diffusion-weighted imaging (DW-MRI) compared to the routine diagnostic workup with CT and/or 18 F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/CT in patients with suspected recurrent colorectal cancer (CRC). METHOD: This was an exploratory retrospective analysis of 55 patients with a clinical suspicion of recurrent CRC who underwent DW-MRI following CT and/or FDG-PET/CT. Two readers in consensus interpreted all clinical imaging reports and converted each described lesion into a confidence score (1 = definitely benign to 5 = definitely malignant). DW-MRI findings were compared to the most recent previous CT or PET/CT. Any discrepant or additional DW-MRI findings were documented and compared with histology and/or clinical follow-up (if available). RESULTS: Whole-body MRI including diffusion-weighted imaging (DW-MRI) resulted in discrepant/additional findings in 26/55 (47%) cases; 23/37 (62%) compared to previous CT and 3/18 (17%) compared to previous PET/CT. These included 10 cases where DW-MRI converted previously inconclusive CT (n = 8) or PET/CT (n = 2) findings into a conclusive diagnosis, one where it contradicted a previous CT diagnosis of recurrence, five where DW-MRI diagnosed recurrent disease not previously reported on CT and 10 cases where DW-MRI detected additional lesions compared to CT (n = 9) or PET/CT (n = 1). Eighty-eight per cent of cases with discrepant/additional findings concerned patients with recurrent/metachronous peritoneal metastases. In total, DW-MRI resulted in 42 discrepant/additional lesions; the DW-MRI diagnosis was correct in 76% of these lesions and incorrect (false positive) in 7%. In the remaining 17%, no standard of reference was available. CONCLUSIONS: This explorative study suggests that DW-MRI may be of added value to patients with a clinical suspicion for recurrent CRC, in particular to identify patients with peritoneal metastases. DW-MRI mainly has potential as a 'problem-solver' in patients with inconclusive or negative findings on previous imaging (in particular CT) and to detect additional disease sites in patients already diagnosed with recurrent disease.


Assuntos
Neoplasias Colorretais , Neoplasias Peritoneais , Humanos , Imagem de Difusão por Ressonância Magnética/métodos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Fluordesoxiglucose F18 , Estudos Retrospectivos , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons/métodos , Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Colorretais/patologia , Compostos Radiofarmacêuticos
15.
J Neurol ; 2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38095723

RESUMO

BACKGROUND: Neurofibromatosis type 1 (NF1) is a highly heterogeneous autosomal genetic disorder characterized by a broad spectrum of clinical and molecular manifestations. The correlations between genotype and phenotype in NF1 remain elusive. This study aimed to elucidate genotype-phenotype associations in a large Chinese cohort of NF1 patients. METHODS: We included NF1 patients from our center who underwent genetic testing for NF1 variants and systemic examination. Genotype-phenotype correlation analyses were performed, focusing on variation types and involved neurofibromin domains. RESULTS: A total of 195 patients were enrolled, comprising 105 males and 90 females, with a median age of 18 years. Truncating variants, single amino acid variations, and splicing variants accounted for 139/195 (71.3%), 23/195 (11.8%), and 33/195 (16.9%), respectively. Patients with splicing variants exhibited a significantly higher prevalence of spinal plexiform neurofibromas (spinal PNF) than those with truncating variants (76.4% vs. 51.8%; p = 0.022). Variations affecting the PKC domain were associated with higher rates of cutaneous neurofibromas (CNF) (100% vs. 64.9%, p < 0.001), Lisch nodules (100% vs. 61.2%, p < 0.001), plexiform neurofibromas (PNF) (100% vs. 95.7%, p = 0.009), and psychiatric disorders (11.8% vs. 1.6%, p = 0.042). Patients with mutations in the CSRD had an elevated risk of secondary primary malignancies (11.6% vs. 2.8%, p = 0.015). GRD involvement might enhance the risk of Lisch nodules (76.9% vs. 53.7%, p = 0.044). Variations in the Sec14-PH domain were correlated with a higher rate of CNF (76.8% vs. 58.6%, p = 0.014). Additionally, we found that the p.R1748* variants carry a high risk of malignancy. CONCLUSION: Our study suggested some novel genotype-phenotype correlations within a Chinese cohort, providing innovative insights into this complex field that may contribute to genetic counseling, risk stratification, and clinical management for the NF1 population.

16.
Quant Imaging Med Surg ; 13(12): 8739-8746, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38106264

RESUMO

This work describes a novel technique for rapid and motion-robust whole-body magnetic resonance imaging (MRI). The method employs highly undersampled radial fast low angle shot (FLASH) sequences to cover large volumes by cross-sectional real-time MRI with automatic slice advancement after each frame. The slice shift typically amounts to a fraction of the slice thickness (e.g., 10% to 50%) in order to generate a successive series of partially overlapping sections. Joint reconstructions of these serial images and their respective coil sensitivity maps rely on nonlinear inversion (NLINV) with regularization to the image and sensitivity maps of a preceding frame. The procedure exploits the spatial similarity of neighboring sections. Whole-body scanning is accomplished by measuring multiple volumes at predefined locations, i.e., at fixed table positions, in combination with intermediate automatic movements of the patient table. Individual volumes may take advantage of different field-of-views, image orientations, spatial and temporal resolutions as well as contrasts. Preliminary proof-of-principle applications to healthy subjects at 3 T without cardiac gating and during free breathing yield high-quality anatomic images with acquisition times of less than 100 ms. Spin-density and T1 contrasts are obtained by spoiled FLASH sequences, while T2-type (i.e., T2/T1) contrast results from refocused FLASH sequences that generate a steady state free precession (SSFP) free induction decay (FID) signal. Total measuring times excluding vendor-controlled adjustment procedures are less than two minutes for a 100 cm scan that, for example, covers the body from head to thigh by three optimized volumes and more than 1,300 images. In conclusion, after demonstrating technical feasibility the proposed method awaits clinical trials.

17.
Insights Imaging ; 14(1): 170, 2023 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-37840055

RESUMO

BACKGROUND: The Myeloma Response Assessment and Diagnosis System (MY-RADS) guidelines establish a standardised acquisition and analysis pipeline for whole-body MRI (WB-MRI) in patients with myeloma. This is the first study to assess image quality in a multi-centre prospective trial using MY-RADS. METHODS: The cohort consisted of 121 examinations acquired across ten sites with a range of prior WB-MRI experience, three scanner manufacturers and two field strengths. Image quality was evaluated qualitatively by a radiologist and quantitatively using a semi-automated pipeline to quantify common artefacts and image quality issues. The intra- and inter-rater repeatability of qualitative and quantitative scoring was also assessed. RESULTS: Qualitative radiological scoring found that the image quality was generally good, with 94% of examinations rated as good or excellent and only one examination rated as non-diagnostic. There was a significant correlation between radiological and quantitative scoring for most measures, and intra- and inter-rater repeatability were generally good. When the quality of an overall examination was low, this was often due to low quality diffusion-weighted imaging (DWI), where signal to noise ratio (SNR), anterior thoracic signal loss and brain geometric distortion were found as significant predictors of examination quality. CONCLUSIONS: It is possible to successfully deliver a multi-centre WB-MRI study using the MY-RADS protocol involving scanners with a range of manufacturers, models and field strengths. Quantitative measures of image quality were developed and shown to be significantly correlated with radiological assessment. The SNR of DW images was identified as a significant factor affecting overall examination quality. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03188172 , Registered on 15 June 2017. CRITICAL RELEVANCE STATEMENT: Good overall image quality, assessed both qualitatively and quantitatively, can be achieved in a multi-centre whole-body MRI study using the MY-RADS guidelines. KEY POINTS: • A prospective multi-centre WB-MRI study using MY-RADS can be successfully delivered. • Quantitative image quality metrics were developed and correlated with radiological assessment. • SNR in DWI was identified as a significant predictor of quality, allowing for rapid quality adjustment.

18.
Brain Sci ; 13(10)2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37891867

RESUMO

Autoimmune neuromuscular diseases are a group of heterogenous pathologies secondary to the activation of the immune system that damage the structures of the peripheric nerve, the neuromuscular junction, or the skeleton muscle. The diagnosis of autoimmune neuromuscular disorders comprises a combination of data from clinical, laboratory, electromyography, imaging exam, and biopsy. Particularly, the whole-body MRI examination in the last two decades has been of great use in the assessment of neuromuscular disorders. MRI provides information about the structures involved and the status of activity of the disease. It can also be used as a biomarker, detect the pattern of specific muscle involvement, and is a useful tool for targeting the optimal muscle site for biopsy. In this work, we summarized the most used technical protocol of whole-body MRI and the role of this imaging technique in autoimmune neuromuscular disorders.

19.
Comput Methods Programs Biomed ; 242: 107811, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37742486

RESUMO

The confident detection of metastatic bone disease is essential to improve patients' comfort and increase life expectancy. Multi-parametric magnetic resonance imaging (MRI) has been successfully used for monitoring of metastatic bone disease, allowing for comprehensive and holistic evaluation of the total tumour volume and treatment response assessment. The major challenges of radiological reading of whole-body MRI come from the amount of data to be reviewed and the scattered distribution of metastases, often of complex shapes. This makes bone lesion detection and quantification demanding for a radiologist and prone to error. Additionally, whole-body MRI are often corrupted with multiple spatial and intensity distortions, which further degrade the performance of image reading and image processing algorithms. In this work we propose a fully automated computer-aided diagnosis system for the detection and segmentation of metastatic bone disease using whole-body multi-parametric MRI. The system consists of an extensive image preprocessing pipeline aiming at enhancing the image quality, followed by a deep learning framework for detection and segmentation of metastatic bone disease. The system outperformed state-of-the-art methodologies, achieving a detection sensitivity of 63% with a mean of 6.44 false positives per image, and an average lesion Dice coefficient of 0.53. A provided ablation study performed to investigate the relative importance of image preprocessing shows that introduction of region of interest mask and spatial registration have a significant impact on detection and segmentation performance in whole-body MRI. The proposed computer-aided diagnosis system allows for automatic quantification of disease infiltration and could provide a valuable tool during radiological examination of whole-body MRI.


Assuntos
Doenças Ósseas , Imageamento por Ressonância Magnética , Humanos , Imageamento por Ressonância Magnética/métodos , Diagnóstico por Computador , Algoritmos , Processamento de Imagem Assistida por Computador/métodos , Computadores
20.
Diagnostics (Basel) ; 13(14)2023 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-37510078

RESUMO

Metastasis to bone is a common occurrence among epithelial tumors, with a high incidence rate in the Western world. As a result, bone lesions are a significant burden on the healthcare system, with a high morbidity index. These injuries are often symptomatic and can lead to functional limitations, which in turn cause reduced mobility in patients. Additionally, they can lead to secondary complications such as pathological fractures, spinal cord compression, hypercalcemia, or bone marrow suppression. The treatment of bone metastases requires collaboration between multiple healthcare professionals, including oncologists, orthopedists, neurosurgeons, physiatrists, and radiotherapists. The primary objective of this study is to evaluate the correlation between two methods used to assess local control. Specifically, the study aims to determine if a reduction in the volume of bone lesions corresponds to better symptomatic control in the clinical management of patients, and vice versa. To achieve this objective, the study evaluates morphological criteria by comparing pre- and post-radiotherapy treatment imaging using MRI and RECIST 1.1 criteria. MRI without contrast is the preferred diagnostic imaging method, due to its excellent tolerance by patients, the absence of exposure to ionizing radiation, and the avoidance of paramagnetic contrast media side effects. This imaging modality allows for accurate assessment of bone lesions. One of the secondary objectives of this study is to identify potentially useful parameters that can distinguish patients into two classes: "good" and "poor" responders to treatment, as reported by previous studies in the literature. These parameters can be evaluated from the imaging examinations by analyzing morphological changes and radiomic features on different sequences, such as T1, STIR (short tau inversion recovery), and DWI-MRI (diffusion-weighted).

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