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While neurological manifestations are core features of Fabry disease (FD), quantitative neuroimaging biomarkers allowing to measure brain involvement are lacking. We used deep learning and the brain-age paradigm to assess whether FD patients' brains appear older than normal and to validate brain-predicted age difference (brain-PAD) as a possible disease severity biomarker. MRI scans of FD patients and healthy controls (HCs) from a single Institution were, retrospectively, studied. The Fabry stabilization index (FASTEX) was recorded as a measure of disease severity. Using minimally preprocessed 3D T1-weighted brain scans of healthy subjects from eight publicly available sources (N = 2160; mean age = 33 years [range 4-86]), we trained a model predicting chronological age based on a DenseNet architecture and used it to generate brain-age predictions in the internal cohort. Within a linear modeling framework, brain-PAD was tested for age/sex-adjusted associations with diagnostic group (FD vs. HC), FASTEX score, and both global and voxel-level neuroimaging measures. We studied 52 FD patients (40.6 ± 12.6 years; 28F) and 58 HC (38.4 ± 13.4 years; 28F). The brain-age model achieved accurate out-of-sample performance (mean absolute error = 4.01 years, R2 = .90). FD patients had significantly higher brain-PAD than HC (estimated marginal means: 3.1 vs. -0.1, p = .01). Brain-PAD was associated with FASTEX score (B = 0.10, p = .02), brain parenchymal fraction (B = -153.50, p = .001), white matter hyperintensities load (B = 0.85, p = .01), and tissue volume reduction throughout the brain. We demonstrated that FD patients' brains appear older than normal. Brain-PAD correlates with FD-related multi-organ damage and is influenced by both global brain volume and white matter hyperintensities, offering a comprehensive biomarker of (neurological) disease severity.
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Aprendizaje Profundo , Enfermedad de Fabry , Leucoaraiosis , Humanos , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Enfermedad de Fabry/diagnóstico por imagen , Estudios Retrospectivos , Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética , BiomarcadoresRESUMEN
The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of disorders, caused by different genetic mutations often associated with a recessive inheritance. In these patients, magnetic resonance imaging (MRI) plays a pivotal role in the diagnostic workflow, with a variable involvement of the cerebellar cortex, alone or in combination with other brain structures. Neuroimaging involvement of the pituitary gland is also variable. Here, we provide an overview of the main clinical and conventional brain and pituitary gland MRI imaging findings of the most common genetic mutations associated with the clinical phenotype of ataxia and hypogonadism, with the aim of helping neuroradiologists in the identification of these disorders.
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Ataxia Cerebelosa , Hipogonadismo , Humanos , Ataxia Cerebelosa/diagnóstico por imagen , Ataxia Cerebelosa/genética , Ataxia Cerebelosa/complicaciones , Hipogonadismo/diagnóstico por imagen , Hipogonadismo/genética , Encéfalo/diagnóstico por imagen , Hipófisis/diagnóstico por imagen , Imagen por Resonancia MagnéticaRESUMEN
The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions that can determine sometimes similar and overlapping clinical findings. In this light, Magnetic Resonance Imaging (MRI) plays a key role in the evaluation of these conditions, being a fundamental diagnostic tool needed not only to exclude other causes determining the observed clinical phenotype, but also to proper guide to an adequate genetic testing. Here, we propose an MRI-based diagnostic algorithm named CHARON (Characterization of Hereditary Ataxias Relying On Neuroimaging), to help in disentangling among the numerous, and apparently very similar, hereditary degenerative ataxias. Being conceived from a neuroradiological standpoint, it is based primarily on an accurate evaluation of the observed MRI findings, with the first and most important being the pattern of cerebellar atrophy. Along with the evaluation of the presence, or absence, of additional signal changes and/or supratentorial involvement, CHARON allows for the identification of a small groups of ataxias sharing similar imaging features. The integration of additional MRI findings, demographic, clinical and laboratory data allow then for the identification of typical, and in some cases pathognomonic, phenotypes of hereditary ataxias.
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OBJECTIVES: In the neuroradiological work-up of Multiple Sclerosis (MS), the detection of "black holes" (BH) represent an information of undeniable importance. Nevertheless, different sequences can be used in clinical practice to evaluate BH in MS. Aim of this study was to investigate the possible impact of different sequences, resolutions, and levels of expertise on the intra- and inter-rater reliability identification of BH in MS. METHODS: Brain MRI scans of 85 MS patients (M/F = 22/63; mean age = 36.0 ± 10.2 years) were evaluated in this prospective single-center study. The acquisition protocol included a 3 mm SE-T1w sequence, a 1 mm 3D-GrE-T1w sequence from which a resliced 3 mm sequence was also obtained. Images were evaluated independently by two readers of different expertise at baseline and after a wash-out period of 30 days. The intraclass correlation coefficient (ICC) was calculated as an index of intra and inter-reader reliability. RESULTS: For both readers, the intra-reader ICC analysis showed that the 3 mm SE-T1w and 3 mm resliced GrE-T1w images achieved an excellent performance (both with an ICC ≥ 0.95), while 1 mm 3D-GrE-T1w scans achieved a moderate one (ICC < 0.90). The inter-reader analysis showed that each of the three sequences achieved a moderate performance (all ICCs < 0.90). CONCLUSIONS: The 1 mm 3D-GrE-T1w sequence seems to be prone to a greater intra-reader variability compared to the 3 mm SE-T1w, with this effect being driven by the higher spatial resolution of the first sequence. To ensure reliability levels comparable with the standard SE-T1w in BH count, an assessment on a 3 mm resliced GrE-T1w sequence should be recommended.
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Imagen por Resonancia Magnética , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Femenino , Imagen por Resonancia Magnética/métodos , Masculino , Adulto , Estudios Prospectivos , Reproducibilidad de los Resultados , Competencia Clínica , Interpretación de Imagen Asistida por Computador/métodos , Variaciones Dependientes del Observador , Imagenología Tridimensional/métodos , Aumento de la Imagen/métodos , Persona de Mediana EdadRESUMEN
PURPOSE: How to measure brain globotriaosylceramide (Gb3) accumulation in Fabry Disease (FD) patients in-vivo is still an open challenge. The objective of this study is to provide a quantitative, non-invasive demonstration of this phenomenon using quantitative MRI (qMRI). METHODS: In this retrospective, monocentric cross-sectional study conducted from November 2015 to July 2018, FD patients and healthy controls (HC) underwent an MRI scan with a relaxometry protocol to compute longitudinal relaxation rate (R1) maps to evaluate gray (GM) and white matter (WM) lipid accumulation. In a subgroup of 22 FD patients, clinical (FAbry STabilization indEX -FASTEX- score) and biochemical (residual α-galactosidase activity) variables were correlated with MRI data. Quantitative maps were analyzed at both global ("bulk" analysis) and regional ("voxel-wise" analysis) levels. RESULTS: Data were obtained from 42 FD patients (mean age = 42.4 ± 12.9, M/F = 16/26) and 49 HC (mean age = 42.3 ± 16.3, M/F = 28/21). Compared to HC, FD patients showed a widespread increase in R1 values encompassing both GM (pFWE = 0.02) and WM (pFWE = 0.02) structures. While no correlations were found between increased R1 values and FASTEX score, a significant negative correlation emerged between residual enzymatic activity levels and R1 values in GM (r = -0.57, p = 0.008) and WM (r = -0.49, p = 0.03). CONCLUSIONS: We demonstrated the feasibility and clinical relevance of non-invasively assessing cerebral Gb3 accumulation in FD using MRI. R1 mapping might be used as an in-vivo quantitative neuroimaging biomarker in FD patients.
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Enfermedad de Fabry , Imagen por Resonancia Magnética , Trihexosilceramidas , Humanos , Enfermedad de Fabry/diagnóstico por imagen , Enfermedad de Fabry/metabolismo , Masculino , Femenino , Adulto , Imagen por Resonancia Magnética/métodos , Trihexosilceramidas/metabolismo , Estudios Transversales , Estudios Retrospectivos , Estudios de Casos y Controles , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Persona de Mediana Edad , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/metabolismoRESUMEN
While verbal memory is among the most compromised cognitive domains in schizophrenia (SZ), its neural substrates remain elusive. Here, we explored the structural and functional brain network correlates of verbal memory impairment in SZ. We acquired diffusion and resting-state functional MRI data of 49 SZ patients, classified as having preserved (VMP, n = 22) or impaired (VMI, n = 26) verbal memory based on the List Learning task, and 55 healthy controls (HC). Structural and functional connectivity matrices were obtained and analyzed to assess associations with disease status (SZ vs. HC) and verbal memory impairment (VMI vs. VMP) using two complementary data-driven approaches: threshold-free network-based statistics (TFNBS) and hybrid connectivity independent component analysis (connICA). TFNBS showed altered connectivity in SZ patients compared with HC (p < .05, FWER-corrected), with distributed structural changes and functional reorganization centered around sensorimotor areas. Specifically, functional connectivity was reduced within the visual and somatomotor networks and increased between visual areas and associative and subcortical regions. Only a tiny cluster of increased functional connectivity between visual and bilateral parietal attention-related areas correlated with verbal memory dysfunction. Hybrid connICA identified four robust traits, representing fundamental patterns of joint structural-functional connectivity. One of these, mainly capturing the functional connectivity profile of the visual network, was significantly associated with SZ (HC vs. SZ: Cohen's d = .828, p < .0001) and verbal memory impairment (VMP vs. VMI: Cohen's d = -.805, p = .01). We suggest that aberrant connectivity of sensorimotor networks may be a key connectomic signature of SZ and a putative biomarker of SZ-related verbal memory impairment, in consistency with bottom-up models of cognitive disruption.
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Conectoma , Esquizofrenia , Humanos , Imagen por Resonancia Magnética , Memoria , Encéfalo , Trastornos de la MemoriaRESUMEN
OBJECTIVES: The clinical impact of brain microstructural abnormalities in multiple sclerosis (MS) remains elusive. We aimed to characterize the topography of longitudinal relaxation rate (R1) and quantitative susceptibility (χ) changes, as indices of iron and myelin, together with brain atrophy, and to clarify their contribution to cognitive and motor disability in MS. METHODS: In this cross-sectional study, voxel-based morphometry, and voxel-based quantification analyses of R1 and χ maps were conducted in gray matter (GM) and white matter (WM) of 117 MS patients and 53 healthy controls. Voxel-wise between-group differences were assessed with nonparametric permutation tests, while correlations between MRI metrics and clinical variables (global disability, cognitive and motor performance) were assessed both globally and voxel-wise within clusters emerging from the between-group comparisons. RESULTS: MS patients showed widespread R1 decrease associated with more limited modifications of χ, with atrophy mainly involving deep GM, posterior and infratentorial regions (p < 0.02). While R1 and χ showed a parallel reduction in several WM tracts (p < 0.001), reduced GM R1 values (p < 0.001) were associated with decreased thalamic χ (p < 0.001) and small clusters of increased χ in the caudate nucleus and prefrontal cortex (p < 0.02). In addition to the atrophy, χ values in the cingulum and corona radiata correlated with global disability and motor performance, while focal demyelination correlated with cognitive performance (p < 0.04). CONCLUSIONS: We confirmed the presence of widespread R1 changes, involving both GM and WM, and atrophy in MS, with less extensive modifications of tissue χ. While atrophy and χ changes are related to global and motor disability, R1 changes are meaningful correlates of cognition. KEY POINTS: ⢠Compared to healthy controls, multiple sclerosis patients showed R1 and χ changes suggestive of iron increase within the basal ganglia and reduced iron and myelin content within (subnuclei of) the thalamus. ⢠Thalamic volume and χ changes significantly predicted clinical disability, as well as pulvinar R1 and χ changes, independently from atrophy. ⢠Atrophy-independent R1 and χ changes, suggestive of thalamic iron and myelin depletion, may represent a sensitive marker of subclinical inflammation.
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Encefalopatías , Personas con Discapacidad , Trastornos Motores , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/patología , Vaina de Mielina , Estudios Transversales , Hierro , Trastornos Motores/complicaciones , Trastornos Motores/patología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Imagen por Resonancia Magnética , Encefalopatías/patología , Atrofia/patologíaRESUMEN
OBJECTIVE: Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive characterization of the spatial profile and progressive evolution of structural brain abnormalities in people with FRDA. METHODS: A coordinated international analysis of regional brain volume using magnetic resonance imaging data charted the whole-brain profile, interindividual variability, and temporal staging of structural brain differences in 248 individuals with FRDA and 262 healthy controls. RESULTS: The brainstem, dentate nucleus region, and superior and inferior cerebellar peduncles showed the greatest reductions in volume relative to controls (Cohen d = 1.5-2.6). Cerebellar gray matter alterations were most pronounced in lobules I-VI (d = 0.8), whereas cerebral differences occurred most prominently in precentral gyri (d = 0.6) and corticospinal tracts (d = 1.4). Earlier onset age predicted less volume in the motor cerebellum (rmax = 0.35) and peduncles (rmax = 0.36). Disease duration and severity correlated with volume deficits in the dentate nucleus region, brainstem, and superior/inferior cerebellar peduncles (rmax = -0.49); subgrouping showed these to be robust and early features of FRDA, and strong candidates for further biomarker validation. Cerebral white matter abnormalities, particularly in corticospinal pathways, emerge as intermediate disease features. Cerebellar and cerebral gray matter loss, principally targeting motor and sensory systems, preferentially manifests later in the disease course. INTERPRETATION: FRDA is defined by an evolving spatial profile of neuroanatomical changes beyond primary pathology in the cerebellum and spinal cord, in line with its progressive clinical course. The design, interpretation, and generalization of research studies and clinical trials must consider neuroanatomical staging and associated interindividual variability in brain measures. ANN NEUROL 2021;90:570-583.
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Encéfalo/patología , Ataxia de Friedreich/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador , Adulto , Edad de Inicio , Encéfalo/anatomía & histología , Progresión de la Enfermedad , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Tractos Piramidales/patología , Adulto JovenRESUMEN
OBJECTIVES: To stratify patients with multiple sclerosis (pwMS) based on brain MRI-derived volumetric features using unsupervised machine learning. METHODS: The 3-T brain MRIs of relapsing-remitting pwMS including 3D-T1w and FLAIR-T2w sequences were retrospectively collected, along with Expanded Disability Status Scale (EDSS) scores and long-term (10 ± 2 years) clinical outcomes (EDSS, cognition, and progressive course). From the MRIs, volumes of demyelinating lesions and 116 atlas-defined gray matter regions were automatically segmented and expressed as z-scores referenced to external populations. Following feature selection, baseline MRI-derived biomarkers entered the Subtype and Stage Inference (SuStaIn) algorithm, which estimates subgroups characterized by distinct patterns of biomarker evolution and stages within subgroups. The trained model was then applied to longitudinal MRIs. Stability of subtypes and stage change over time were assessed via Krippendorf's α and multilevel linear regression models, respectively. The prognostic relevance of SuStaIn classification was assessed with ordinal/logistic regression analyses. RESULTS: We selected 425 pwMS (35.9 ± 9.9 years; F/M: 301/124), corresponding to 1129 MRI scans, along with healthy controls (N = 148; 35.9 ± 13.0 years; F/M: 77/71) and external pwMS (N = 80; 40.4 ± 11.9 years; F/M: 56/24) as reference populations. Based on 11 biomarkers surviving feature selection, two subtypes were identified, designated as "deep gray matter (DGM)-first" subtype (N = 238) and "cortex-first" subtype (N = 187) according to the atrophy pattern. Subtypes were consistent over time (α = 0.806), with significant annual stage increase (b = 0.20; p < 0.001). EDSS was associated with stage and DGM-first subtype (p ≤ 0.02). Baseline stage predicted long-term disability, transition to progressive course, and cognitive impairment (p ≤ 0.03), with the latter also associated with DGM-first subtype (p = 0.005). CONCLUSIONS: Unsupervised learning modelling of brain MRI-derived volumetric features provides a biologically reliable and prognostically meaningful stratification of pwMS. KEY POINTS: ⢠The unsupervised modelling of brain MRI-derived volumetric features can provide a single-visit stratification of multiple sclerosis patients. ⢠The so-obtained classification tends to be consistent over time and captures disease-related brain damage progression, supporting the biological reliability of the model. ⢠Baseline stratification predicts long-term clinical disability, cognition, and transition to secondary progressive course.
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Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Progresión de la Enfermedad , Humanos , Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/patología , Esclerosis Múltiple Recurrente-Remitente/patología , Reproducibilidad de los Resultados , Estudios Retrospectivos , Aprendizaje Automático no SupervisadoRESUMEN
OBJECTIVES: Although the use of specific MRI criteria has significantly increased the diagnostic accuracy of multiple sclerosis (MS), reaching a correct neuroradiological diagnosis remains a challenging task, and therefore the search for new imaging biomarkers is crucial. This study aims to evaluate the incidence of one of the emerging neuroradiological signs highly suggestive of MS, the central vein sign (CVS), using data from Fabry disease (FD) patients as an index of microvascular disorder that could mimic MS. METHODS: In this retrospective study, after the application of inclusion and exclusion criteria, MRI scans of 36 FD patients and 73 relapsing-remitting (RR) MS patients were evaluated. Among the RRMS participants, 32 subjects with a disease duration inferior to 5 years (early MS) were also analyzed. For all subjects, a Fazekas score (FS) was recorded, excluding patients with FS = 0. Different neuroradiological signs, including CVS, were evaluated on FLAIR T2-weighted and spoiled gradient recalled echo sequences. RESULTS: Among all the recorded neuroradiological signs, the most striking difference was found for the CVS, with a detectable prevalence of 78.1% (57/73) in RRMS and of 71.4% (25/32) in early MS patients, while this sign was absent in FD (0/36). CONCLUSIONS: Our results confirm the high incidence of CVS in MS, also in the early phases of the disease, while it seems to be absent in conditions with a different etiology. These results corroborate the possible role of CVS as a useful neuroradiological sign highly suggestive of MS. KEY POINTS: ⢠The search for new imaging biomarkers is crucial to achieve a correct neuroradiological diagnosis of MS. ⢠The CVS shows an incidence superior to 70% in MS patients, even in the early phases of the disease, while it appears to be absent in FD. ⢠These findings further corroborate the possible future central role of CVS in distinguishing between MS and its mimickers.
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Enfermedad de Fabry , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Biomarcadores , Encéfalo , Enfermedad de Fabry/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Estudios RetrospectivosRESUMEN
Short-term disability progression was predicted from a baseline evaluation in patients with multiple sclerosis (MS) using their three-dimensional T1-weighted (3DT1) magnetic resonance images (MRI). One-hundred-and-eighty-one subjects diagnosed with MS underwent 3T-MRI and were followed up for two to six years at two sites, with disability progression defined according to the expanded-disability-status-scale (EDSS) increment at the follow-up. The patients' 3DT1 images were bias-corrected, brain-extracted, registered onto MNI space, and divided into slices along coronal, sagittal, and axial projections. Deep learning image classification models were applied on slices and devised as ResNet50 fine-tuned adaptations at first on a large independent dataset and secondly on the study sample. The final classifiers' performance was evaluated via the area under the curve (AUC) of the false versus true positive diagram. Each model was also tested against its null model, obtained by reshuffling patients' labels in the training set. Informative areas were found by intersecting slices corresponding to models fulfilling the disability progression prediction criteria. At follow-up, 34% of patients had disability progression. Five coronal and five sagittal slices had one classifier surviving the AUC evaluation and null test and predicted disability progression (AUC > 0.72 and AUC > 0.81, respectively). Likewise, fifteen combinations of classifiers and axial slices predicted disability progression in patients (AUC > 0.69). Informative areas were the frontal areas, mainly within the grey matter. Briefly, 3DT1 images may give hints on disability progression in MS patients, exploiting the information hidden in the MRI of specific areas of the brain.
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Aprendizaje Profundo , Esclerosis Múltiple , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Evaluación de la Discapacidad , Progresión de la Enfermedad , Humanos , Imagen por Resonancia Magnética/métodos , Esclerosis Múltiple/patologíaRESUMEN
White matter hyperintensities (WMH) are common findings that can be found in physiological ageing. Several studies suggest that the disruption of white matter tracts included in WMH could induce abnormal functioning of the respective linked cortical structures, with consequent repercussion on the cerebral functions, included the cognitive sphere. In this cross-sectional research, we analysed the effects of the total WMH burden (tWMHb) on resting-state functional magnetic resonance imaging (rs-fMRI) and cognition. Functional and structural MR data, as well as the scores of the trail making test subtests A (TMT-A) and B (TMT-B) of 75 healthy patients, were extracted from the public available Leipzig Study for Mind-Body-Emotion Interactions dataset. tWMHb was extracted from structural data. Spearman's correlation analyses were made for investigating correlations between WMHb and the scores of the cognitive tests. The fractional amplitude of low-frequency fluctuations (fALFF) method was applied for analysing the rs-fMRI data, adopting a multiple regression model for studying the effects of tWMHb on brain activity. Three different subanalyses were conducted using different statistical methods. We observed statistically significant correlations between WMHb and the scores of the cognitive tests. The fALFF analysis revealed that tWMHb is associated with the reduction of regional neural activity of several brain areas (in particular the prefrontal cortex, precuneus and cerebellar crus I/II). We conclude that our findings clarify better the relationships between WMH and cognitive impairment, evidencing that tWMHb is associated with impairments of the neurocognitive function in healthy subjects by inducing a diffuse reduction of the neural activity.
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Disfunción Cognitiva , Sustancia Blanca , Cognición , Disfunción Cognitiva/diagnóstico por imagen , Estudios Transversales , Voluntarios Sanos , Humanos , Imagen por Resonancia Magnética , Pruebas Neuropsicológicas , Sustancia Blanca/diagnóstico por imagenRESUMEN
BACKGROUND: MRI is a useful imaging modality to assess the presence of pancreatic neuroendocrine tumors (PNETs), allowing repeat monitoring examinations in multiple endocrine neoplasia type 1 (MEN-1) patients. OBJECTIVES: We aimed to compare the diagnostic accuracy of conventional MRI sequences to identify which sequence better depicts the presence of PNETs in MEN-1 patients. METHOD: We performed a retrospective analysis of consecutive MEN-1 patients who underwent a conventional MRI protocol to monitor previously proven PNETs. MRI sequences T1-w chemical shift (CS), T2-w HASTE, fat-suppressed (FS) T2-w HASTE, diffusion-weighted imaging (DWI), and pre- and post-contrast FS T1-w sequences were independently analyzed by 2 experienced radiologists using a 3-grade score (no lesion, uncertain lesion, and certain lesion); lesion size and signal intensity were recorded. A Friedman ANOVA and a Wilcoxon pairwise test for the post hoc analysis were used. The sensitivity of each sequence was measured, and the results were analyzed with the χ2 test. RESULTS: We included 21 patients with a total of 45 PNETs proven by histology, endoscopic ultrasonography-guided fine-needle aspiration, CT, and nuclear medicine studies. A statistically significant (p < 0.01) difference was observed in the detection performance of each MRI sequence, particularly between DWI (91%) and T2-w FS (85%) sequences in comparison to the others (T1-w CS, T2-w, and pre- and post-contrast FS T1-w, ≤56% for all); no significant (p = 0.5) difference was found between the detection performance of DWI and T2-w FS sequences. No correlation was observed between the qualitative score of each sequence and lesion tumor size. CONCLUSIONS: DWI and T2-w FS sequences proved to be the most accurate in the detection of PNETs, thus suggesting a role for an abbreviated MRI protocol without contrast medium administration for monitoring MEN-1 patients.
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Imagen por Resonancia Magnética/normas , Neoplasia Endocrina Múltiple Tipo 1/diagnóstico por imagen , Neoplasias Pancreáticas/diagnóstico por imagen , Adulto , Anciano , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVES: We aimed to assess the performance of radiomics and machine learning (ML) for classification of non-cystic benign and malignant breast lesions on ultrasound images, compare ML's accuracy with that of a breast radiologist, and verify if the radiologist's performance is improved by using ML. METHODS: Our retrospective study included patients from two institutions. A total of 135 lesions from Institution 1 were used to train and test the ML model with cross-validation. Radiomic features were extracted from manually annotated images and underwent a multistep feature selection process. Not reproducible, low variance, and highly intercorrelated features were removed from the dataset. Then, 66 lesions from Institution 2 were used as an external test set for ML and to assess the performance of a radiologist without and with the aid of ML, using McNemar's test. RESULTS: After feature selection, 10 of the 520 features extracted were employed to train a random forest algorithm. Its accuracy in the training set was 82% (standard deviation, SD, ± 6%), with an AUC of 0.90 (SD ± 0.06), while the performance on the test set was 82% (95% confidence intervals (CI) = 70-90%) with an AUC of 0.82 (95% CI = 0.70-0.93). It resulted in being significantly better than the baseline reference (p = 0.0098), but not different from the radiologist (79.4%, p = 0.815). The radiologist's performance improved when using ML (80.2%), but not significantly (p = 0.508). CONCLUSIONS: A radiomic analysis combined with ML showed promising results to differentiate benign from malignant breast lesions on ultrasound images. KEY POINTS: ⢠Machine learning showed good accuracy in discriminating benign from malignant breast lesions ⢠The machine learning classifier's performance was comparable to that of a breast radiologist ⢠The radiologist's accuracy improved with machine learning, but not significantly.
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Aprendizaje Automático , Ultrasonografía Mamaria , Diagnóstico Diferencial , Femenino , Humanos , Estudios Retrospectivos , UltrasonografíaRESUMEN
PURPOSE: To systematically review and evaluate the methodological quality of studies using radiomics for diagnostic and predictive purposes in patients with intracranial meningioma. To perform a meta-analysis of machine learning studies for the prediction of intracranial meningioma grading from pre-operative brain MRI. METHODS: Articles published from the year 2000 on radiomics and machine learning applications in brain imaging of meningioma patients were included. Their methodological quality was assessed by three readers with the radiomics quality score, using the intra-class correlation coefficient (ICC) to evaluate inter-reader reproducibility. A meta-analysis of machine learning studies for the preoperative evaluation of meningioma grading was performed and their risk of bias was assessed with the Quality Assessment of Diagnostic Accuracy Studies tool. RESULTS: In all, 23 studies were included in the systematic review, 8 of which were suitable for the meta-analysis. Total (possible range, -8 to 36) and percentage radiomics quality scores were respectively 6.96 ± 4.86 and 19 ± 13% with a moderate to good inter-reader reproducibility (ICC = 0.75, 95% confidence intervals, 95%CI = 0.54-0.88). The meta-analysis showed an overall AUC of 0.88 (95%CI = 0.84-0.93) with a standard error of 0.02. CONCLUSIONS: Machine learning and radiomics have been proposed for multiple applications in the imaging of meningiomas, with promising results for preoperative lesion grading. However, future studies with adequate standardization and higher methodological quality are required prior to their introduction in clinical practice.
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Neoplasias Meníngeas , Meningioma , Humanos , Aprendizaje Automático , Imagen por Resonancia Magnética , Neoplasias Meníngeas/diagnóstico por imagen , Meningioma/diagnóstico por imagen , Reproducibilidad de los Resultados , Estudios RetrospectivosRESUMEN
PURPOSE: Cerebellar ataxias are a large and heterogeneous group of disorders. The evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of these conditions, being mandatory to exclude the presence of other underlying causes in determining the clinical phenotype. Once these possible causes are ruled out, the diagnosis is usually researched in the wide range of hereditary or sporadic ataxias. METHODS: We here propose a review of the main clinical and conventional imaging findings of the most common hereditary degenerative ataxias, to help neuroradiologists in the evaluation of these patients. RESULTS: Hereditary degenerative ataxias are all usually characterized from a neuroimaging standpoint by the presence, in almost all cases, of cerebellar atrophy. Nevertheless, a proper assessment of imaging data, extending beyond the mere evaluation of cerebellar atrophy, evaluating also the pattern of volume loss as well as concomitant MRI signs, is crucial to achieve a proper diagnosis. CONCLUSION: The integration of typical neuroradiological characteristics, along with patient's clinical history and laboratory data, could allow the neuroradiologist to identify some conditions and exclude others, addressing the neurologist to the more appropriate genetic testing.
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Ataxia Cerebelosa , Ataxia/diagnóstico por imagen , Ataxia/genética , Encéfalo , Ataxia Cerebelosa/diagnóstico por imagen , Ataxia Cerebelosa/genética , Humanos , Imagen por Resonancia Magnética , NeuroimagenRESUMEN
PURPOSE: Moyamoya syndrome (MMS) is a rare intracranial arterial vasculopathy which can occur in neurofibromatosis type 1 (NF1) disease, representing a cause of cerebrovascular reserve (CVR) impairment, possibly leading to ischemic stroke. Here, we evaluated noninvasive imaging techniques used to assess CVR in MMS patients, describing clinical and imaging findings in patients affected by MMS-NF1. METHODS: Following strict inclusion and exclusion criteria, in this retrospective observational study, we evaluated imaging data of nine consecutive MMS-NF1 patients (M/F = 5/4, mean age: 12.6 ± 4.0). Subjects underwent a multimodal evaluation of cerebral vascular status, including intracranial arterial MR Angiography (MRA), MRI perfusion with dynamic susceptibility contrast (DSC) technique, and 99mTc-hexamethylpropyleneamine oxime (HMPAO) SPECT. RESULTS: In 8 out 9 patients (88.8%, 6/8 symptomatic), time-to-peak maps were correlated with the involved cerebral hemisphere, while in 6 out 9 patients (66.6%, 5/6 symptomatic), mean transit time (MTT) maps showed correspondence with the affected cerebrovascular territories. Cerebral blood flow (CBF) calculated using DSC perfusion failed to detect the hypoperfused regions instead identified by SPECT-CBF in all patients, while MTT maps overlapped with SPECT-CBF data in all cases and time-to-peak maps in 60.0%. CONCLUSIONS: Although SPECT imaging still represents the gold standard for CBF assessment, our results suggest that data obtained using DSC perfusion technique, and in particular MTT maps, might be a very useful and noninvasive tool for evaluating hemodynamic status in MMS-NF1 patients.
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Enfermedad de Moyamoya , Neurofibromatosis 1 , Adolescente , Circulación Cerebrovascular , Niño , Humanos , Imagen por Resonancia Magnética , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
OBJECTIVES: To predict placental accreta spectrum (PAS) in patients with placenta previa (PP) evaluating clinical risk factors (CRF), ultrasound (US) and magnetic resonance imaging (MRI) findings. METHODS: Seventy patients with PP were retrospectively selected. CRF were retrieved from medical records. US and MRI images were evaluated to detect imaging signs suggestive of PAS. Univariable analysis was performed to identify CRF, US and MRI signs associated with PAS considering histology as standard of reference. Receiver operating characteristic curve (ROC) analysis was performed, and the area under the curve (AUC) was calculated. Multivariable analysis was also performed. RESULTS: At univariable analysis, the number of previous cesarean section, smoking, loss of the retroplacental clear space, myometrial thinning < 1 mm, placental lacunae, intraplacental dark bands (IDB), focal interruption of myometrial border (FIMB) and abnormal vascularity were statistically significant. The AUC in predicting PAS progressively increased using CRF, US and MRI signs (0.69, 0.79 and 0.94, respectively; p < 0.05); the accuracy of MRI alone was similar to that obtained combining CRF, US and MRI variables (AUC = 0.97) and was significantly higher (p < 0.05) than that combining CRF and US (AUC = 0.83). Multivariable analysis showed that only IDB (p = 0.012) and FIMB (p = 0.029) were independently associated with PAS. CONCLUSIONS: MRI is the best modality to predict PAS in patients with PP independently from CRF and/or US finding. It is reasonable to propose the combined assessment of CRF and US as the first diagnostic level to predict PAS, sparing MRI for selected cases in which US findings are uncertain for PAS.
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Imagen por Resonancia Magnética , Placenta Accreta , Placenta Previa/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Análisis de Varianza , Área Bajo la Curva , Femenino , Humanos , Persona de Mediana Edad , Placenta Accreta/diagnóstico por imagen , Embarazo , Curva ROC , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVE: To develop a comprehensive formula for calculating the volume of local anaesthetic solution used for retrobulbar anaesthesia in dogs with different skull morphologies. STUDY DESIGN: Retrospective cohort imaging study. ANIMALS: Skull computed tomography (CT) images of 188 dogs of different breeds collected between January 2009 and December 2017. METHODS: Anatomical integrity of the orbit and adjacent structures, presenting complaint, clinical signs and CT findings were verified to exclude ocular abnormalities. The volume of the retrobulbar cone of 376 eyes was calculated using CT scans of the dogs' skulls. Additional data recorded included morphology of the skull, body weight, sex and size of the dogs, all of which were matched for possible association to the retrobulbar cone volume through univariable and multivariable linear regression models. Results of linear regression models were expressed as estimated beta coefficients with the corresponding 95% confidence intervals (95% CIs). RESULTS: Using univariate analysis, the retrobulbar cone volume was positively associated with weight and male sex. In addition, brachycephalic and dolichocephalic dogs showed a larger retrobulbar cone volume than mesocephalic dogs, while sex was no longer significantly associated with the retrobulbar cone volume. In multivariate analysis, when considering all variables in the model, weight emerged as the strongest predictor (beta coefficient: 0.062 mL kg-1, 95% CI: 0.056-0.067 mL kg-1, p < 0.001). CONCLUSIONS: and clinical relevance In the veterinary literature, there is no agreement on the precise volume of local anaesthetic solution that should be used to achieve intraconal retrobulbar anaesthesia in dogs. Here we suggest a formula to calculate the retrobulbar cone volume and, accordingly, the injection volume of local anaesthetic solution for effective retrobulbar anaesthesia.
Asunto(s)
Ojo , Órbita , Anestesia Local/veterinaria , Animales , Perros , Masculino , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/veterinariaRESUMEN
OBJECTIVES: Aim of this study was to investigate the reliability and validity of 2D linear measures of ventricular enlargement as indirect markers of brain atrophy and possible predictors of clinical disability. METHODS: In this retrospective longitudinal analysis of relapsing-remitting MS patients, brain volumes were computed at baseline and after 2 years. Frontal horn width (FHW), intercaudate distance (ICD), third ventricle width (TVW), and 4th ventricle width were obtained. Two-dimensional measures associated with brain volume at correlation analyses were entered in linear and logistic regression models testing the relationship with baseline clinical disability and 10-year confirmed disability progression (CDP), respectively. Possible cutoff values for clinically relevant atrophy were estimated via receiver operating characteristic (ROC) analyses and probed as 10-year CDP predictors using hierarchical logistic regression. RESULTS: Eighty-seven patients were available (61/26 = F/M; 34.1 ± 8.5 years). Moderate negative correlations emerged between ICD and TVW and normalized brain volume (NBV; p < 0.001) and percentage brain volume change per year (PBVC/y) and FHW, ICD, and TVW annual changes (p ≤ 0.005). Baseline disability was moderately associated with NBV, ICD, and TVW (p < 0.001), while PBVC/y predicted 10-year CDP (p = 0.01). A cutoff percentage ICD change per year (PICDC/y) value of 4.38%, corresponding to - 0.91% PBVC/y, correlated with 10-year CDP (p = 0.04). These estimated cutoff values provided extra value for predicting 10-year CDP (PBVC/y: p = 0.001; PICDC/y: p = 0.03). CONCLUSIONS: Two-dimensional measures of ventricular enlargement are reproducible and clinically relevant markers of brain atrophy, with ICD and its increase over time showing the best association with clinical disability. Specifically, a cutoff PICDC/y value of 4.38% could serve as a potential surrogate marker of long-term disability progression. KEY POINTS: ⢠Assessment of ventricular enlargement as a rapidly accessible indirect marker of brain atrophy may prove useful in cases in which brain volume quantification is not practicable. ⢠Two-dimensional linear measures of ventricular enlargement represent reliable, valid, and clinically relevant markers of brain atrophy. ⢠A cutoff annualized percentage brain volume change of - 0.91% and the corresponding annualized percentage increase of 4.38% for intercaudate distance are able to discriminate patients who will develop long-term disability progression.