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Quantitative MRI (qMRI) has been shown to be clinically useful for numerous applications in the brain and body. The development of rapid, accurate, and reproducible qMRI techniques offers access to new multiparametric data, which can provide a comprehensive view of tissue pathology. This work introduces a multiparametric qMRI protocol along with full postprocessing pipelines, optimized for brain imaging at 3 Tesla and using state-of-the-art qMRI tools. The total scan time is under 50 minutes and includes eight pulse-sequences, which produce range of quantitative maps including T1, T2, and T2* relaxation times, magnetic susceptibility, water and macromolecular tissue fractions, mean diffusivity and fractional anisotropy, magnetization transfer ratio (MTR), and inhomogeneous MTR. Practical tips and limitations of using the protocol are also provided and discussed. Application of the protocol is presented on a cohort of 28 healthy volunteers and 12 brain regions-of-interest (ROIs). Quantitative values agreed with previously reported values. Statistical analysis revealed low variability of qMRI parameters across subjects, which, compared to intra-ROI variability, was x4.1 ± 0.9 times higher on average. Significant and positive linear relationship was found between right and left hemispheres' values for all parameters and ROIs with Pearson correlation coefficients of r>0.89 (P<0.001), and mean slope of 0.95 ± 0.04. Finally, scan-rescan stability demonstrated high reproducibility of the measured parameters across ROIs and volunteers, with close-to-zero mean difference and without correlation between the mean and difference values (across map types, mean P value was 0.48 ± 0.27). The entire quantitative data and postprocessing scripts described in the manuscript are publicly available under dedicated GitHub and Figshare repositories. The quantitative maps produced by the presented protocol can promote longitudinal and multi-center studies, and improve the biological interpretability of qMRI by integrating multiple metrics that can reveal information, which is not apparent when examined using only a single contrast mechanism.
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Encéfalo , Imagen por Resonancia Magnética , Humanos , Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Adulto , Masculino , Femenino , Procesamiento de Imagen Asistido por Computador/métodos , Adulto JovenRESUMEN
PURPOSE: Detection and prediction of the rate of brain volume loss with age is a significant unmet need in patients with primary progressive multiple sclerosis (PPMS). In this study we construct detailed brain volume maps for PPMS patients. These maps compare age-related changes in both cortical and sub-cortical regions with those in healthy individuals. METHODS: We conducted retrospective analyses of brain volume using T1-weighted Magnetic Resonance Imaging (MRI) scans of a large cohort of PPMS patients and healthy subjects. The volume of brain parenchyma (BP), cortex, white matter (WM), deep gray matter, thalamus, and cerebellum were measured using the robust SynthSeg segmentation tool. Age- and gender-related regression curves were constructed based on data from healthy subjects, with the 95% prediction interval adopted as the normality threshold for each brain region. RESULTS: We analyzed 495 MRI scans from 169 PPMS patients, aged 20-79 years, alongside 563 exams from healthy subjects aged 20-86. Compared to healthy subjects, a higher proportion of PPMS patients showed lower than expected brain volumes in all regions except the cerebellum. The most affected areas were BP, WM, and thalamus. Lower brain volumes correlated with longer disease duration for BP and WM, and higher disability for BP, WM, cortex, and thalamus. CONCLUSIONS: Constructing age- and gender-related brain volume maps enabled identifying PPMS patients at a higher risk of brain volume loss. Monitoring these high-risk patients may lead to better treatment decisions and improve patient outcomes.
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Encéfalo , Imagen por Resonancia Magnética , Esclerosis Múltiple Crónica Progresiva , Humanos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Imagen por Resonancia Magnética/métodos , Anciano , Esclerosis Múltiple Crónica Progresiva/diagnóstico por imagen , Esclerosis Múltiple Crónica Progresiva/patología , Estudios Retrospectivos , Tamaño de los Órganos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Anciano de 80 o más Años , Progresión de la Enfermedad , Mapeo Encefálico/métodosRESUMEN
An association between subtle changes in T2 white matter hyper-intense signals (WMHSs) detected in fetal brain magnetic resonance imaging (fbMRI) and congenital cytomegalovirus (CMV) infection has been established. The research aim of this study is to compare children with congenital CMV infection with neurodevelopment outcome and hearing deficit with and without WMHSs in a historic prospective case study cohort of 58 fbMRIs. Of these, in 37 cases, fbMRI was normal (normal group) and WMHSs were detected in 21 cases (WMHS group). The median infection week of the WMHS group was earlier than the normal fbMRI group (8 and 17 weeks of gestation, respectively). The proportion of infants treated with valganciclovir in the WMHS group was distinctly higher. Hearing impairment was not significantly different between the groups. VABS scores in all four domains were within normal range in both groups. The median score of the motor skills corrected for week of infection was better in the WMHS group. A multivariate analysis using the week of infection interaction variable of WMHS and valganciclovir treatment showed better motor score outcomes in the valganciclovir treatment group despite an earlier week of infection. WMHSs were not associated with neurodevelopmental outcome and hearing deficit. In our cohort, valganciclovir treatment may have a protective effect on fetuses with WMHSs by improving neurodevelopmental outcome.
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BACKGROUND AND PURPOSE: Multiple studies demonstrated hypothalamic-pituitary dysfunction in survivors of pediatric brain tumors. However, few studies investigated the trajectories of pituitary height in these patients and their associations with pituitary function. We aimed to evaluate longitudinal changes of pituitary height in children and adolescents with brain tumors, and their association with endocrine deficiencies. MATERIALS AND METHODS: We conducted a retrospective analysis of 193 pediatric patients (54.9% male) diagnosed with brain tumors from 2002 to 2018, with a minimum of two years of radiological follow-up. Pituitary height was measured using MRI scans at diagnosis and at 2, 5, and 10 years post-diagnosis, with clinical data sourced from patient charts. RESULTS: Average age at diagnosis was 7.6 ± 4.5 years, with a follow-up of 6.1 ± 3.4 years. 52.8% underwent radiotherapy and 37.8% experienced pituitary hormone deficiency. Radiation treatment was a significant predictor of decreased pituitary height at all observed time points (p = 0.016, p < 0.001, p = 0.008, respectively). Additionally, chemotherapy (p = 0.004) or radiotherapy (p = 0.022) history and pituitary height at 10 years (p = 0.047) were predictors of endocrine deficiencies. ANOVA revealed an expected increase in pituitary height over time in pediatric patients, but this growth was significantly impacted by radiation treatment and gender (p for interaction = 0.005 and 0.025, respectively). CONCLUSION: Cranial irradiation in pediatric patients is associated with impairment of the physiologic increase in pituitary size; in turn, decreased pituitary height is associated with endocrine dysfunction. We suggest that pituitary gland should be evaluated on surveillance imaging of pediatric brain tumor survivors, and if small for age, clinical endocrine evaluation should be pursued.
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Neoplasias Encefálicas , Humanos , Niño , Masculino , Femenino , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/diagnóstico por imagen , Estudios Retrospectivos , Adolescente , Traumatismos por Radiación/etiología , Traumatismos por Radiación/diagnóstico por imagen , Hipófisis/efectos de la radiación , Hipófisis/diagnóstico por imagen , Preescolar , Imagen por Resonancia Magnética , Irradiación Craneana/efectos adversos , Hipopituitarismo/etiologíaRESUMEN
Diabetes is associated with cognitive decline, but the underlying mechanisms are complex and their relationship with Alzheimer's Disease biomarkers is not fully understood. We assessed the association of small vessel disease (SVD) and amyloid burden with cognitive functioning in 47 non-demented older adults with type-2 diabetes from the Israel Diabetes and Cognitive Decline Study (mean age 78Y, 64% females). FLAIR-MRI, Vizamyl amyloid-PET, and T1W-MRI quantified white matter hyperintensities as a measure of SVD, amyloid burden, and gray matter (GM) volume, respectively. Mean hemoglobin A1c levels and duration of type-2 diabetes were used as measures of diabetic control. Cholesterol level and blood pressure were used as measures of cardiovascular risk. A broad neuropsychological battery assessed cognition. Linear regression models revealed that both higher SVD and amyloid burden were associated with lower cognitive functioning. Additional adjustments for type-2 diabetes-related characteristics, GM volume, and cardiovascular risk did not alter the results. The association of amyloid with cognition remained unchanged after further adjustment for SVD, and the association of SVD with cognition remained unchanged after further adjustment for amyloid burden. Our findings suggest that SVD and amyloid pathology may independently contribute to lower cognitive functioning in non-demented older adults with type-2 diabetes, supporting a multimodal approach for diagnosing, preventing, and treating cognitive decline in this population.
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Enfermedad de Alzheimer , Enfermedades de los Pequeños Vasos Cerebrales , Trastornos del Conocimiento , Disfunción Cognitiva , Diabetes Mellitus Tipo 2 , Enfermedades Vasculares , Femenino , Humanos , Anciano , Masculino , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/patología , Cognición , Enfermedad de Alzheimer/patología , Disfunción Cognitiva/patología , Trastornos del Conocimiento/patología , Amiloide/metabolismo , Imagen por Resonancia Magnética , Enfermedades Vasculares/patología , Enfermedades de los Pequeños Vasos Cerebrales/complicaciones , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Enfermedades de los Pequeños Vasos Cerebrales/patología , Encéfalo/metabolismoRESUMEN
Background: The impaired drainage of cerebrospinal fluid through the glymphatic system is thought to play a role in the idiopathic intracranial hypertension (IIH) pathophysiology. Limited data exist regarding the glymphatic system's involvement in pediatric patients with IIH. Therefore, the study's objective was to quantitatively evaluate alterations in parenchymal diffusivity and magnetic resonance imaging (MRI)-visible dilated perivascular spaces (PVS) as imaging indicators of glymphatic dysfunction in pediatric patients with IIH. Methods: Patients diagnosed with IIH in 2017-2022 in a single tertiary center (Sheba Medical Center, Israel) were retrospectively reviewed. Twenty-four pediatric patients were enrolled. All patients underwent clinical 3-T brain MRI. The control group included 24 age- and gender-matched healthy subjects with a normal-appearing brain on imaging. We used automatic atlas-based diffusion-weighted imaging analysis to determine regional diffusivity of the thalamus, caudate, putamen, globus pallidus, hippocampus, amygdala, and brain stem. PVS were evaluated using a semi-quantitative rating scale on T2-weighted images. Variables were compared using the Mann-Whitney test. Multivariate analysis of covariance was used to test for differences between controls and IIH patients. Results: No significant differences in regional brain diffusivity were observed between individuals with IIH and healthy controls (P=0.14-0.91 for various brain regions). The number of visible PVS was comparable between patients with IIH and the control group across all evaluated sites (P=0.12-0.74 for various brain regions). Conclusions: Pediatric IIH patients exhibited similar patterns of parenchymal diffusivity and PVS compared to age-matched controls. These findings do not support the hypothesis that the glymphatic system may play a role in the pathophysiology of pediatric IIH, although previously postulated. However, employing more sophisticated magnetic resonance (MR) techniques could enhance the sensitivity in uncovering underlying glymphatic dysfunction. Further research is warranted to validate and explore this association in larger cohorts and investigate the underlying mechanisms involved in IIH.
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Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis. In this article, recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee will be presented. The aim of this paper is to review the imaging features of the normal and abnormal fetal spinal cord, to clarify the prenatal classification of congenital spinal cord anomalies and to provide guidance in their reporting.
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Radiología , Disrafia Espinal , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico por Imagen , Médula Espinal/diagnóstico por imagen , Disrafia Espinal/diagnóstico , Columna VertebralRESUMEN
Diabetes is associated with cognitive decline, but the underlying mechanisms are complex and their relationship with Alzheimer's Disease biomarkers is not fully understood. We assessed the association of small vessel disease (SVD) and amyloid burden with cognitive functioning in 47 non-demented older adults with type-2 diabetes from the Israel Diabetes and Cognitive Decline Study (mean age 78Y, 64% females). FLAIR-MRI, Vizamyl amyloid-PET, and T1W-MRI quantified white matter hyperintensities as a measure of SVD, amyloid burden, and gray matter (GM) volume, respectively. Mean hemoglobin A1c levels and duration of type-2 diabetes were used as measures of diabetic control. Cholesterol level and blood pressure were used as measures of cardiovascular risk. A broad neuropsychological battery assessed cognition. Linear regression models revealed that both higher SVD and amyloid burden were associated with lower cognitive functioning. Additional adjustments for type-2 diabetes-related characteristics, GM volume, and cardiovascular risk did not alter the results. The association of amyloid with cognition remained unchanged after further adjustment for SVD. Our findings suggest that SVD and amyloid pathology may independently contribute to lower cognitive functioning in non-demented older adults with type-2 diabetes, supporting a multimodal approach for diagnosing, preventing, and treating cognitive decline in this population.
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PURPOSE: Abnormal fetal brain measurements might affect clinical management and parental counseling. The effect of between-field-strength differences was not evaluated in quantitative fetal brain imaging until now. Our study aimed to compare fetal brain biometry measurements in 3.0 T with 1.5 T scanners. METHODS: A retrospective cohort of 1150 low-risk fetuses scanned between 2012 and 2021, with apparently normal brain anatomy, were retrospectively evaluated for biometric measurements. The cohort included 1.5 T (442 fetuses) and 3.0 T scans (708 fetuses) of populations with comparable characteristics in the same tertiary medical center. Manually measured biometry included bi-parietal, fronto-occipital and trans-cerebellar diameters, length of the corpus-callosum, vermis height, and width. Measurements were then converted to centiles based on previously reported biometric reference charts. The 1.5 T centiles were compared with the 3.0 T centiles. RESULTS: No significant differences between centiles of bi-parietal diameter, trans-cerebellar diameter, or length of the corpus callosum between 1.5 T and 3.0 T scanners were found. Small absolute differences were found in the vermis height, with higher centiles in the 3.0 T, compared to the 1.5 T scanner (54.6th-centile, vs. 39.0th-centile, p < 0.001); less significant differences were found in vermis width centiles (46.9th-centile vs. 37.5th-centile, p = 0.03). Fronto-occipital diameter was higher in 1.5 T than in the 3.0 T scanner (66.0th-centile vs. 61.8th-centile, p = 0.02). CONCLUSIONS: The increasing use of 3.0 T MRI for fetal imaging poses a potential bias when using 1.5 T-based charts. We elucidate those biometric measurements are comparable, with relatively small between-field-strength differences, when using manual biometric measurements. Small inter-magnet differences can be related to higher spatial resolution with 3 T scanners and may be substantial when evaluating small brain structures, such as the vermis.
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Imagen por Resonancia Magnética , Imanes , Femenino , Humanos , Estudios Retrospectivos , Estudios de Cohortes , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/anatomía & histología , Biometría/métodosRESUMEN
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine individuals presenting with intellectual disability, global developmental delay and a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Knockdown of the Drosophila orthologue of SART3 reveals a conserved role in testicular and neuronal development. Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. Collectively, these findings suggest that bi-allelic SART3 variants underlie a spliceosomopathy which we tentatively propose be termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis). Our findings will enable additional diagnoses and improved outcomes for individuals born with this condition.
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Disgenesia Gonadal , Células Madre Pluripotentes Inducidas , Discapacidad Intelectual , Masculino , Humanos , Testículo/metabolismo , Células Madre Pluripotentes Inducidas/metabolismo , Proteínas de Unión al ARN/genética , Proteínas de Unión al ARN/metabolismo , Antígenos de NeoplasiasRESUMEN
BACKGROUND: Papilledema is thought to be the hallmark sign of increased intracranial pressure (ICP). Distension of the subarachnoid space within the optic nerve sheath is also commonly reported in MR studies as an indirect sign of increased ICP. HYPOTHESIS: General anesthesia and positive pressure ventilation might result in changes in optic sheath diameter (OSD) observed on clinical brain MRI. STUDY TYPE: Retrospective. POPULATION: One hundred forty-five patients (154 MRI scans, 7.3 years ± 5.1); 97 studies in the anesthesia group (4.4 years ± 3.4) of which 22 had papilledema, and 57 in the non-anesthesia group (12.3 years ± 3.2), of which 28 had papilledema. FIELD STRENGTH/SEQUENCE: 1.5T or 3.0T volumetric T2 images. T2 images were obtained from different vendors. ASSESSMENT: OSD, optic nerve diameter (OND), and peri-optic cerebrospinal fluid (CSF) were measured manually on T2-weighted MR images for various population subgroups (with and without anesthesia; with or without papilledema). The correlation between these measurements and the clinical diagnosis of papilledema was evaluated via receiver operating characteristic (ROC) analysis. STATISTICAL TESTS: Chi-square test; Mann-Whitney Test; Spearman's test and ROCs; Interclass correlation coefficient, P = 0.05. RESULTS: General anesthesia resulted in significantly larger mean OSD in patients with or without papilledema (7.3 ± 1.0 mm vs. 6.1 ± 1.1 mm and 6.7 ± 1.0 mm vs. 5.4 ± 0.9 mm, respectively). In the non-anesthesia group, the average OSD values (6.1 ± 1.1 mm) were significantly higher in papilledema patients compared to non-papilledema patients (5.4 ± 0.9 mm), with larger peri-optic CSF rim (1.6 ± 0.4 mm vs. 1.3 ± 0.3 mm). In the anesthesia group, OND was significantly larger in papilledema patients (3.4 ± 0.4 mm vs. 3.1 ± 0.5 mm), though the average peri-optic CSF rim did not reach a significance in papilledema compared with non-papilledema patients (2.0 ± 0.3 mm vs. 1.8 ± 0.4 mm, P = 0.06). In patients with general anesthesia, peri-optic CSF rim had a limited correlation with increased ICP. DATA CONCLUSION: In the pediatric population, imaging findings of increased OSD on brain MRI might be related to general anesthesia rather than increased ICP. The interpretation of optic nerve sheath distention should be reported cautiously in conjunction with anesthesia status, especially in the pediatric population. EVIDENCE LEVEL: 4 Technical Efficacy: 5.
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Hipertensión Intracraneal , Papiledema , Humanos , Niño , Papiledema/diagnóstico , Estudios Retrospectivos , Nervio Óptico/diagnóstico por imagen , Anestesia GeneralRESUMEN
During July-September 2022, 14 children suffering from meningoencephalitis tested positive for Coxsackievirus B2 (8 cerebrospinal fluid, 9 stool samples). Mean age 22 months (range 0-60 months); 8 were males. Seven of the children presented with ataxia and 2 had imaging features of rhombencephalitis, not previously described in association with Coxsackievirus B2.
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Infecciones por Coxsackievirus , Meningoencefalitis , Masculino , Niño , Humanos , Recién Nacido , Lactante , Preescolar , Femenino , Infecciones por Coxsackievirus/epidemiología , Infecciones por Coxsackievirus/complicaciones , Israel/epidemiología , Enterovirus Humano B , Meningoencefalitis/epidemiología , Brotes de EnfermedadesRESUMEN
INTRODUCTION: MRI activity is less frequent among secondary progressive multiple sclerosis (SPMS) patients. In the current study, we aimed to identify SPMS patients with higher radiological disease activity (RDA) and determine their clinical characteristics. METHODS: We evaluated the occurrence of RDA in SPMS patients followed at the Sheba Multiple Sclerosis Center between January 1, 2015, and December 31, 2020. All patients underwent brain and spinal cord MRI examinations as a routine follow-up unrelated to clinical disease activity. Patients were subdivided into RDA and non-RDA MRI groups based on the presence of active gadolinium-enhancing T1 lesions and/or new/enlarging T2 lesions. Demographic variables and disease-related data were compared. RESULTS: One hundred consecutive SPMS patients, 74 females, median age of 50 years, disease duration of 19.5 years, and neurological disability by the Expanded Disability Status Scale (EDSS) score of 6.0, were included in the study. The RDA group comprised 35 patients (35%), of them 65.7% (n = 23) exhibited only brain MRI activity, 22.8% (n = 8) only spinal cord MRI activity, and 11.4% (n = 4) had both. Patients in the RDA group were diagnosed at a younger mean (SD) age of 28.2 (8.9) versus 33.7 (10.1) years and were younger with a mean (SD) age of 47.8 (9.9) versus 53.4 (10.1) years, as compared with the non-RDA group. No significant differences were found in relation to disease duration, EDSS, exposure to immunomodulatory treatments, and duration of immunomodulatory treatments. CONCLUSIONS: RDA unrelated to clinical symptomatology was more frequent in a subgroup of young SPMS patients.
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Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple , Femenino , Humanos , Persona de Mediana Edad , Adulto , Esclerosis Múltiple/patología , Imagen por Resonancia Magnética , Médula Espinal , Encéfalo/patología , Progresión de la EnfermedadRESUMEN
BACKGROUND: Magnetic resonance imaging (MRI) diagnosis is usually performed by analyzing contrast-weighted images, where pathology is detected once it reached a certain visual threshold. Computer-aided diagnosis (CAD) has been proposed as a way for achieving higher sensitivity to early pathology. PURPOSE: To compare conventional (i.e., visual) MRI assessment of artificially generated multiple sclerosis (MS) lesions in the brain's white matter to CAD based on a deep neural network. STUDY TYPE: Prospective. POPULATION: A total of 25 neuroradiologists (15 males, age 39 ± 9, 9 ± 9.8 years of experience) independently assessed all synthetic lesions. FIELD STRENGTH/SEQUENCE: A 3.0 T, T2 -weighted multi-echo spin-echo (MESE) sequence. ASSESSMENT: MS lesions of varying severity levels were artificially generated in healthy volunteer MRI scans by manipulating T2 values. Radiologists and a neural network were tasked with detecting these lesions in a series of 48 MR images. Sixteen images presented healthy anatomy and the rest contained a single lesion at eight increasing severity levels (6%, 9%, 12%, 15%, 18%, 21%, 25%, and 30% elevation in T2 ). True positive (TP) rates, false positive (FP) rates, and odds ratios (ORs) were compared between radiological diagnosis and CAD across the range lesion severity levels. STATISTICAL TESTS: Diagnostic performance of the two approaches was compared using z-tests on TP rates, FP rates, and the logarithm of ORs across severity levels. A P-value <0.05 was considered statistically significant. RESULTS: ORs of identifying pathology were significantly higher for CAD vis-à-vis visual inspection for all lesions' severity levels. For a 6% change in T2 value (lowest severity), radiologists' TP and FP rates were not significantly different (P = 0.12), while the corresponding CAD results remained statistically significant. DATA CONCLUSION: CAD is capable of detecting the presence or absence of more subtle lesions with greater precision than the representative group of 25 radiologists chosen in this study. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY: Stage 3.
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Imagen por Resonancia Magnética , Esclerosis Múltiple , Masculino , Humanos , Estudios Prospectivos , Sensibilidad y Especificidad , Imagen por Resonancia Magnética/métodos , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/patología , Computadores , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Estudios RetrospectivosRESUMEN
Pediatric neuroradiology is a subspecialty within radiology, with possible pathways to train within the discipline from neuroradiology or pediatric radiology. Formalized pediatric neuroradiology training programs are not available in most European countries. We aimed to construct a European consensus document providing recommendations for the safe practice of pediatric neuroradiology. We particularly emphasize imaging techniques that should be available, optimal site conditions and facilities, recommended team requirements and specific indications and protocol modifications for each imaging modality employed for pediatric neuroradiology studies. The present document serves as guidance to the optimal setup and organization for carrying out pediatric neuroradiology diagnostic and interventional procedures. Clinical activities should always be carried out in full agreement with national provisions and regulations. Continued education of all parties involved is a requisite for preserving pediatric neuroradiology practice at a high level.
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Radiología , Humanos , Niño , Unión Europea , Consenso , Radiología/métodos , Europa (Continente)RESUMEN
OBJECTIVES: To determine the rate of fetal and neonatal brain lesions and define risk factors for such lesions in pregnancies complicated by Twin Anemia Polycythemia Sequence (TAPS). METHODS: A retrospective cohort study of monochorionic twin pregnancies which were diagnosed with TAPS in a single tertiary medical center between 2013 and 2021. Pregnancies were followed with fetal brain neurosonogram every 2 weeks and fetal brain MRI (magnetic resonance imaging) was performed when indicated at 28-32 weeks of gestation; post-natal brain imaging included neonatal brain ultrasound. Pregnancies with pre- and post-natal brain lesions were compared to those without such findings. RESULTS: Overall, 23 monochorionic diamniotic pregnancies were diagnosed with TAPS over the study period resulting in perinatal survival of 91.3% (42/46). In 6/23 (26%) pregnancies and 7/46 (15.2%) fetuses pre- or post-natal brain lesions were detected, of whom five were the polycythemic twins and two were the anemic twins. Brain findings included intra-cerebral hemorrhage and ischemic lesions and were diagnosed prenatally in 6/7 (85.7%) cases. No risk factors for severe brain lesions were identified. CONCLUSIONS: TAPS may place the fetuses and neonates at increased risk for cerebral injuries. Incorporation of fetal brain imaging protocols may enhance precise prenatal diagnosis and allow for accurate parental counseling and post-natal care.
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Anemia , Lesiones Encefálicas , Transfusión Feto-Fetal , Policitemia , Anemia/complicaciones , Anemia/diagnóstico por imagen , Anemia/epidemiología , Femenino , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/epidemiología , Feto , Humanos , Recién Nacido , Policitemia/complicaciones , Policitemia/diagnóstico por imagen , Policitemia/epidemiología , Embarazo , Embarazo Gemelar , Estudios Retrospectivos , Gemelos Monocigóticos , Ultrasonografía PrenatalRESUMEN
PURPOSE: Apparent diffusion coefficient (ADC) values in the developing fetus provide valuable information on the diagnosis and prognosis of prenatal brain pathologies. Normative ADC data has been previously established in 1.5 T MR scanners but lacking in 3.0 T scanners. Our objective was to measure ADC values in various brain areas in a cohort of normal singleton fetuses scanned in a 3.0 T MR scanner. METHODS: DWI (diffusion-weighted imaging) was performed in 47 singleton fetuses with normal or questionably abnormal results on sonography followed by normal structural MR imaging. ADC values were measured in cerebral lobes (frontal, parietal, temporal lobes), basal ganglia, and pons. Regression analysis was used to examine gestational age-related changes in regional ADC. RESULTS: Median gestational age was 30.1 weeks (range, 26-34 weeks). There was a significant effect of region on ADC values, whereby ADC values were highest in cerebral lobes (parietal > frontal > temporal lobes), compared with basal ganglia. The lowest values were found in the pons. On regression analysis, there was a decrease in ADC values in basal ganglia and pons with increasing gestational age. ADC values in frontal, parietal, and temporal lobes were stable in our cohort. CONCLUSION: Regional brain ADC values in 3.0 T scanners are comparable with previously reported values in 1.5 T scanners, with similar changes over gestational age. Using 3.0 T scanners is increasing worldwide. For fetal imaging, establishing normal ADC values is critical as DWI enables a sensitive and quantitative technique to evaluate normal and abnormal brain development.
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Imagen de Difusión por Resonancia Magnética , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Humanos , Lactante , Embarazo , Tercer Trimestre del Embarazo , Diagnóstico Prenatal/métodosRESUMEN
Approximately 40% of young-onset multiple sclerosis (MS) patients experience breakthrough disease, which carries a high risk for long-term disability, and requires using therapies beyond traditional first-line agents. Despite the increasing use of newer disease-modifying treatments (DMTs) in this population, data are not available to guide the need for escalating DMTs and there is a scarcity of data on the effects of natalizumab in children and young adults with active disease. We performed a retrospective analysis of the rate of No Evidence of Disease Activity (NEDA), tolerability, and safety of natalizumab in a multi-center cohort of 36 children and young adults with highly active MS. All patients had active disease and initiated treatment with natalizumab. The primary endpoint was the rate of achieving NEDA-3 status, within two years of natalizumab treatment. To examine a possible effect of age on the outcome of treatment, outcomes were also analyzed by pre-pubertal (n = 13 children aged 9-13 years) and pubertal subgroups (n = 23 young adolescents aged 14-20 years). The NEDA-3 status of the pre-pubertal group was 92% in the first and second year and in the pubertal group - 96% in the first year and 92% in the second year. Natalizumab reduced the number and volume of brain lesions in both pre-pubertal and pubertal groups. Treatment was well-tolerated, only 8 patients (22.2%) had adverse events during the 2-year study period. Our analysis shows that natalizumab is effective and well-tolerated in pre-pubertal and pubertal MS patients.
Asunto(s)
Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Adolescente , Humanos , Factores Inmunológicos/uso terapéutico , Esclerosis Múltiple/tratamiento farmacológico , Natalizumab/uso terapéutico , Estudios Retrospectivos , Adulto JovenRESUMEN
PURPOSE: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiorgan hamartomas, including cerebral lesions, with seizures as a common presentation. Most TSC patients will also experience neurocognitive comorbidities. Our objective was to use machine learning techniques incorporating clinical and imaging data to predict the occurrence of major neurocognitive disorders and seizures in TSC patients. METHODS: A cohort of TSC patients were enrolled in this retrospective study. Clinical data included genetic, demographic, and seizure characteristics. Imaging parameters included the number, characteristics, and location of cortical tubers and the presence of subependymal nodules, SEGAs, and cerebellar tubers. A random forest machine learning scheme was used to predict seizures and neurodevelopmental delay or intellectual developmental disability. Prediction ability was assessed by the area-under-the-curve of receiver-operating-characteristics (AUC-ROC) of ten-fold cross-validation training set and an independent validation set. RESULTS: The study population included 77 patients, 55% male (17.1 ± 11.7 years old). The model achieved AUC-ROC of 0.72 ± 0.1 and 0.68 in the training and internal validation datasets, respectively, for predicting neurocognitive comorbidity. Performance was limited in predicting seizures (AUC-ROC of 0.54 ± 0.19 and 0.71 in the training and internal validation datasets, respectively). The integration of seizure characteristics into the model improved the prediction of neurocognitive comorbidity with AUC-ROC of 0.84 ± 0.07 and 0.75 in the training and internal validation datasets, respectively. CONCLUSIONS: This proof of concept study shows that it is possible to achieve a reasonable prediction of major neurocognitive morbidity in TSC patients using structural brain imaging and machine learning techniques. These tools can help clinicians identify subgroups of TSC patients with an increased risk of developing neurocognitive comorbidities.