Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 22
Filtrar
Más filtros

Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Sensors (Basel) ; 21(15)2021 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-34372416

RESUMEN

Dynamic early-phase PET images acquired with radiotracers binding to fibrillar amyloid-beta (Aß) have shown to correlate with [18F]fluorodeoxyglucose (FDG) PET images and provide perfusion-like information. Perfusion information of static PET scans acquired during the first minute after radiotracer injection (FMF, first-minute-frame) is compared to [18F]FDG PET images. FMFs of 60 patients acquired with [18F]florbetapir (FBP), [18F]flutemetamol (FMM), and [18F]florbetaben (FBB) are compared to [18F]FDG PET images. Regional standardized uptake value ratios (SUVR) are directly compared and intrapatient Pearson's correlation coefficients are calculated to evaluate the correlation of FMFs to their corresponding [18F]FDG PET images. Additionally, regional interpatient correlations are calculated. The intensity profiles of mean SUVRs among the study cohort (r = 0.98, p < 0.001) and intrapatient analyses show strong correlations between FMFs and [18F]FDG PET images (r = 0.93 ± 0.05). Regional VOI-based analyses also result in high correlation coefficients. The FMF shows similar information to the cerebral metabolic patterns obtained by [18F]FDG PET imaging. Therefore, it could be an alternative to the dynamic imaging of early phase amyloid PET and be used as an additional neurodegeneration biomarker in amyloid PET studies in routine clinical practice while being acquired at the same time as amyloid PET images.


Asunto(s)
Enfermedad de Alzheimer , Fluorodesoxiglucosa F18 , Enfermedad de Alzheimer/diagnóstico por imagen , Amiloide/metabolismo , Péptidos beta-Amiloides , Compuestos de Anilina , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Humanos , Tomografía de Emisión de Positrones
2.
Am J Hematol ; 94(8): 853-861, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31074033

RESUMEN

The value of minimal residual disease (MRD) status by bone marrow and imaging analysis as independent prognostic factors has been well established in multiple myeloma (MM). Nevertheless data about their potential complementarity for a more accurate assessment are limited. With this aim, we retrospectively analyzed the prediction of outcome with the combination of PET-CT and MRD, assessed by multiparameter flow cytometry (MFC) in 103 patients with newly diagnosed MM. We confirmed the benefit in terms of progression-free survival (PFS), linked to the achievement of negativity by MFC (hazard ratio [HR] 0.53; 95% confidence interval [CI]: 0.28-0.98), and PET-CT (HR 0.18; 95% CI: 0.09-0.36) individually. By combining both techniques, patients who became MRD-/PET-, with a median of PFS 92 months, had significant prolonged median PFS (P < .001). This is compared with MRD+/PET- and PET+ patients (median PFS of 45 and 28 months, respectively). We observed a significant difference (P = .003) in overall survival (OS) outcomes between MRD-/PET- and MRD+/PET- patients (4-year OS 94.2% and 100%, respectively), vs PET+ patients (4-year OS 73.8%). All survival results were confirmed in a conditional landmark analysis. These findings support the potential complementarity between PET-CT and MFC, and highlight their better predictive capability when improving sensitivity.


Asunto(s)
Médula Ósea/patología , Mieloma Múltiple/diagnóstico por imagen , Neoplasia Residual/diagnóstico por imagen , Imagen de Cuerpo Entero , Médula Ósea/diagnóstico por imagen , Citometría de Flujo , Humanos , Estimación de Kaplan-Meier , Mieloma Múltiple/mortalidad , Mieloma Múltiple/patología , Mieloma Múltiple/terapia , Neoplasia Residual/mortalidad , Neoplasia Residual/patología , Neoplasia Residual/terapia , Tomografía Computarizada por Tomografía de Emisión de Positrones , Supervivencia sin Progresión , Modelos de Riesgos Proporcionales , Estudios Retrospectivos
3.
J Imaging Inform Med ; 37(5): 2390-2400, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38689152

RESUMEN

Bone metastasis, emerging oncological therapies, and osteoporosis represent some of the distinct clinical contexts which can result in morphological alterations in bone structure. The visual assessment of these changes through anatomical images is considered suboptimal, emphasizing the importance of precise skeletal segmentation as a valuable aid for its evaluation. In the present study, a neural network model for automatic skeleton segmentation from bidimensional computerized tomography (CT) slices is proposed. A total of 77 CT images and their semimanual skeleton segmentation from two acquisition protocols (whole-body and femur-to-head) are used to form a training group and a testing group. Preprocessing of the images includes four main steps: stretcher removal, thresholding, image clipping, and normalization (with two different techniques: interpatient and intrapatient). Subsequently, five different sets are created and arranged in a randomized order for the training phase. A neural network model based on U-Net architecture is implemented with different values of the number of channels in each feature map and number of epochs. The model with the best performance obtains a Jaccard index (IoU) of 0.959 and a Dice index of 0.979. The resultant model demonstrates the potential of deep learning applied in medical images and proving its utility in bone segmentation.


Asunto(s)
Redes Neurales de la Computación , Tomografía Computarizada por Rayos X , Humanos , Tomografía Computarizada por Rayos X/métodos , Aprendizaje Profundo , Procesamiento de Imagen Asistido por Computador/métodos , Huesos/diagnóstico por imagen , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/secundario , Femenino , Algoritmos
4.
Comput Methods Programs Biomed ; 244: 107981, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38154326

RESUMEN

BACKGROUND AND OBJECTIVES: Standardization of radiomic data acquisition protocols is still at a very early stage, revealing a strong need to work towards the definition of uniform image processing methodologies The aim of this study is to identify sources of variability in radiomic data derived from image discretization and resampling methodologies prior to image feature extraction. Furthermore, to identify robust potential image-based biomarkers for the early detection of cardiotoxicity. METHODS: Image post-acquisition processing, interpolation, and volume of interest (VOI) segmentation were performed. Four experiments were conducted to assess the reliability in terms of the intraclass correlation coefficient (ICC) of the radiomic features and the effects of the variation of voxel size and gray level discretization. Statistical analysis was performed separating the patients according to cardiotoxicity diagnosis. Differences of texture features were studied with Mann-Whitney U test. P-values <0.05 after multiple testing correction were considered statistically significant. Additionally, a non-supervised k-Means clustering algorithm was evaluated. RESULTS: The effect of the variation in the voxel size demonstrated a non-dependency relationship with the values of the radiomic features, regardless of the chosen discretization method. The median ICC values were 0.306 and 0.872 for absolute agreement and consistency, respectively, when varying the discretization bin number. The median ICC values were 0.678 and 0.878 for absolute agreement and consistency, respectively, when varying the discretization bin size. A total of 16 first order, 6 Gray Level Co-occurrence Matrix (GLCM), 4 Gray Level Dependence Matrix (GLDM) and 4 Gray Level Run Length Matrix (GLRLM) features demonstrated statistically significant differences between the diagnosis groups for interim scans (P<0.05) for the fixed bin size (FBS) discretization methodology. However, no statistically significant differences between diagnostic groups were found for the fixed bin number (FBN) discretization methodology. Two clusters based on the radiomic features were identified. CONCLUSIONS: Gray level discretization has a major impact on the repeatability of the radiomic features. The selection of the optimal processing methodology has led to the identification of texture-based patterns for the differentiation of early cardiac damage profiles.


Asunto(s)
Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Reproducibilidad de los Resultados , Cardiotoxicidad/diagnóstico por imagen , Radiómica , Procesamiento de Imagen Asistido por Computador/métodos
5.
Phys Eng Sci Med ; 46(2): 903-913, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37155114

RESUMEN

The combination of visual assessment of whole body [18F]FDG PET images and evaluation of bone marrow samples by Multiparameter Flow Cytometry (MFC) or Next-Generation Sequencing (NGS) is currently the most common clinical practice for the detection of Measurable Residual Disease (MRD) in Multiple Myeloma (MM) patients. In this study, radiomic features extracted from the bone marrow biopsy locations are analyzed and compared to those extracted from the whole bone marrow in order to study the representativeness of these biopsy locations in the image-based MRD assessment. Whole body [18F]FDG PET of 39 patients with newly diagnosed MM were included in the database, and visually evaluated by experts in nuclear medicine. A methodology for the segmentation of biopsy sites from PET images, including sternum and posterior iliac crest, and their subsequent quantification is proposed. First, starting from the bone marrow segmentation, a segmentation of the biopsy sites is performed. Then, segmentations are quantified extracting SUV metrics and radiomic features from the [18F]FDG PET images and are evaluated by Mann-Whitney U-tests as valuable features differentiating PET+/PET- and MFC+ /MFC- groups. Moreover, correlation between whole bone marrow and biopsy sites is studied by Spearman ρ rank. Classification performance of the radiomics features is evaluated applying seven machine learning algorithms. Statistical analyses reveal that some images features are significant in PET+/PET- differentiation, such as SUVmax, Gray Level Non-Uniformity or Entropy, especially with a balanced database where 16 of the features show a p value < 0.001. Correlation analyses between whole bone marrow and biopsy sites results in significant and acceptable coefficients, with 11 of the variables reaching a correlation coefficient greater than 0.7, with a maximum of 0.853. Machine learning algorithms demonstrate high performances in PET+/PET- classification reaching a maximum AUC of 0.974, but not for MFC+/MFC- classification. The results demonstrate the representativeness of sample sites as well as the effectiveness of extracted features (SUV metrics and radiomic features) from the [18F]FDG PET images in MRD assessment in MM patients.


Asunto(s)
Médula Ósea , Mieloma Múltiple , Humanos , Médula Ósea/diagnóstico por imagen , Médula Ósea/patología , Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Mieloma Múltiple/diagnóstico por imagen , Mieloma Múltiple/patología , Biopsia
6.
Int J Comput Assist Radiol Surg ; 18(1): 157-169, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36053441

RESUMEN

PURPOSE: Due to the high morbidity and mortality of infective endocarditis (IE), medical imaging techniques are combined to ensure a correct diagnosis. [18F]FDG PET/CT has demonstrated the ability to improve diagnostic accuracy compared with the conventional modified Duke criteria in patients with suspected IE, especially those with prosthetic valve infective endocarditis (PVIE). The aim of this study is to provide an adjunctive diagnostic tool to improve the diagnostic accuracy in cardiovascular infections, specifically PVIE. METHODS: A segmentation tool to extract quantitative measures of [18F]FDG PET/CT image studies of prosthetic heart valve regions was developed and validated in 20 cases of suspected PVIE, of which 9 were confirmed. For that, Valvular Heterogeneity Index (VHI) and Ring-to-Center Ratio (RCR) were defined. RESULTS: Results show an overall increase in the metabolic uptake of the prosthetic valve ring in the studies with confirmed PVIE diagnosis (SUVmax from 1.70 to 3.20; SUVmean from 0.86 to 1.50). The VHI and RCR showed areas under the curve of 0.727 and 0.808 in the receiver operating characteristics curve analyses, respectively, for PVIE diagnosis. Mann-Whitney U tests showed statistically significant differences between groups for RCR (p = 0.02). Visual analyses and clinical reports were concordant with the extracted quantitative metrics. CONCLUSION: The proposed new method and presented software solution (CASSIA) provide the capability to assess quantitatively myocardial metabolism along the prosthetic valve region in routine [18F]FDG PET/CT scans for evaluating heart valve infectious processes. VHI and RCR are proposed as new potential adjunctive measures for PVIE diagnosis.


Asunto(s)
Cardiología , Cassia , Endocarditis Bacteriana , Endocarditis , Prótesis Valvulares Cardíacas , Infecciones Relacionadas con Prótesis , Humanos , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Fluorodesoxiglucosa F18 , Radiofármacos/farmacología , Infecciones Relacionadas con Prótesis/diagnóstico por imagen , Endocarditis/diagnóstico por imagen , Prótesis Valvulares Cardíacas/efectos adversos
7.
Artículo en Inglés | MEDLINE | ID: mdl-36758828

RESUMEN

OBJECTIVE: To study the correlation between a static PET image of the first-minute-frame (FMF) acquired with 18F-labeled amyloid-binding radiotracers and brain [18F]FDG PET in patients with primary progressive aphasia (PPA). MATERIAL AND METHODS: The study cohort includes 17 patients diagnosed with PPA with the following distribution: 9 nonfluent variant PPA, 4 logopenic variant PPA, 1 semantic variant PPA, 3 unclassifiable PPA. Regional SUVRs are extracted from FMFs and their corresponding [18F]FDG PET images and Pearson's correlation coefficients are calculated. RESULTS: SUVRs of both images show similar patterns of regional cerebral alterations. Intrapatient correlation analyses result in a mean coefficient of r=0.94±0.06. Regional interpatient correlation coefficients of the study cohort are greater than 0.81. Radiotracer-specific and variant-specific subcohorts show no difference in the similarity between the images. CONCLUSIONS: The static FMF could be a valid alternative to dynamic early-phase amyloid PET proposed in the literature, and a neurodegeneration biomarker for the diagnosis and classification of PPA in amyloid PET studies.


Asunto(s)
Afasia Progresiva Primaria , Fluorodesoxiglucosa F18 , Humanos , Afasia Progresiva Primaria/diagnóstico por imagen , Encéfalo/metabolismo , Tomografía de Emisión de Positrones , Amiloide
8.
J Neuroimaging ; 33(1): 174-183, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36251614

RESUMEN

BACKGROUND AND PURPOSE: Syndrome of the trephined or sinking skin flap syndrome is an underdiagnosed condition of craniectomized patients that usually improves after cranioplasty. Among the pathophysiological theories proposed, the changes of cerebral blood perfusion (CBP) caused by cranial defects might have a role in the neurological deficiencies observed. We aim to assess the regional cortex changes in CBP after cranioplasty with Technetium 99m hexamethylpropylene-amine oxime (99mTc-HMPAO) SPECT-CT. METHODS: Twenty-eight craniectomized patients subject to cranioplasty were studied with 99mTc-HMPAO SPECT-CT in three different times, before cranioplasty, a week, and 3 months after. The images were processed with quantification software comparing CBP of 24 cortical areas with a reference area, and with a database of controls. A mixed effects model and T-Student were used. RESULTS: CBP increased significantly in both hemispheres after cranioplasty, either using ratio (ß = .019, p-value = .030 first postsurgical SPECT-CT and ß = .021, p-value = .015 in the second study, vs. presurgical) or Z-score (ß = .220, p-value = .026 and ß = .279, p-value = .005, respectively). Nine areas of the damaged side had a significant lower CBP ratio and Z-score than the undamaged. Posterior cingulate showed an increased CBP ratio (p-value = .034) and Z-score (p-value = .028) in the first postsurgical SPECT-CT. These posterior cingulate changes represent a 4.83% increase in ratio and 91.04% in Z-Score (p-value = .035 and .040, respectively). CONCLUSION: CBP changes significantly in specific cortical areas after cranioplasty. Posterior cingulate changes might explain some improvements in attention impairments. SPECT-CT could be a useful tool to assess CBP changes in these patients and might be helpful in their clinical management.


Asunto(s)
Circulación Cerebrovascular , Tomografía Computarizada de Emisión de Fotón Único , Humanos , Exametazima de Tecnecio Tc 99m , Tomografía Computarizada de Emisión de Fotón Único/métodos , Circulación Cerebrovascular/fisiología , Tomografía Computarizada por Rayos X , Perfusión , Encéfalo/diagnóstico por imagen , Encéfalo/cirugía , Compuestos de Organotecnecio
9.
Comput Methods Programs Biomed ; 225: 107083, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36044803

RESUMEN

BACKGROUND AND OBJECTIVES: The last few years have been crucial in defining the most appropriate way to quantitatively assess [18F]FDG PET images in Multiple Myeloma (MM) patients to detect persistent tumor burden. The visual evaluation of images complements the assessment of Measurable Residual Disease (MRD) in bone marrow samples by multiparameter flow cytometry (MFC) or next-generation sequencing (NGS). The aim of this study was to quantify MRD by analyzing quantitative and texture [18F]FDG PET features. METHODS: Whole body [18F]FDG PET of 39 patients with newly diagnosed MM were included in the database, and visually evaluated by experts in nuclear medicine. A segmentation methodology of the skeleton from CT images and an additional manual segmentation tool were proposed, implemented in a software solution including a graphical user interface. Both the compact bone and the spinal canal were removed from the segmentation to obtain only the bone marrow mask. SUV metrics, GLCM, GLRLM, and NGTDM parameters were extracted from the PET images and evaluated by Mann-Whitney U-tests and Spearman ρ rank correlation as valuable features differentiating PET+/PET- and MFC+/MFC- groups. Seven machine learning algorithms were applied for evaluating the classification performance of the extracted features. RESULTS: Quantitative analysis for PET+/PET- differentiating demonstrated to be significant for most of the variables assessed with Mann-Whitney U-test such as Variance, Energy, and Entropy (p-value = 0.001). Moreover, the quantitative analysis with a balanced database evaluated by Mann-Whitney U-test revealed in even better results with 19 features with p-values < 0.001. On the other hand, radiomics analysis for MFC+/MFC- differentiating demonstrated the necessity of combining MFC evaluation with [18F]FDG PET assessment in the MRD diagnosis. Machine learning algorithms using the image features for the PET+/PET- classification demonstrated high performance metrics but decreasing for the MFC+/MFC- classification. CONCLUSIONS: A proof-of-concept for the extraction and evaluation of bone marrow radiomics features of [18F]FDG PET images was proposed and implemented. The validation showed the possible use of these features for the image-based assessment of MRD.


Asunto(s)
Fluorodesoxiglucosa F18 , Mieloma Múltiple , Médula Ósea/diagnóstico por imagen , Médula Ósea/patología , Humanos , Mieloma Múltiple/diagnóstico por imagen , Mieloma Múltiple/patología , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Radiofármacos
10.
Diagnostics (Basel) ; 13(1)2022 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-36611298

RESUMEN

Neurodegenerative parkinsonisms affect mainly cognitive and motor functions and are syndromes of overlapping symptoms and clinical manifestations such as tremor, rigidness, and bradykinesia. These include idiopathic Parkinson's disease (PD) and the atypical parkinsonisms, namely progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), multiple system atrophy (MSA) and dementia with Lewy body (DLB). Differences in the striatal metabolism among these syndromes are evaluated using [18F]FDG PET, caused by alterations to the dopaminergic activity and neuronal loss. A study cohort of three patients with PD, 29 with atypical parkinsonism (10 PSP, 6 CBD, 2 MSA, 7 DLB, and 4 non-classifiable), and a control group of 25 patients with normal striatal metabolism is available. Standardized uptake value ratios (SUVR) are extracted from the striatum, and the caudate and the putamen separately. SUVRs are compared among the study groups. In addition, hemispherical and caudate-putamen differences are evaluated in atypical parkinsonisms. Striatal hypermetabolism is detected in patients with PD, while atypical parkinsonisms show hypometabolism, compared to the control group. Hemispherical differences are observed in CBD, MSA and DLB, with the latter also showing statistically significant caudate-putamen asymmetry (p = 0.018). These results indicate disease-specific metabolic uptake patterns in the striatum that can support the differential diagnosis.

11.
Int J Comput Assist Radiol Surg ; 17(2): 373-383, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34698987

RESUMEN

PURPOSE: Chemotherapy-induced cardiotoxicity is one of the main complications during and after cancer treatment. While echocardiography is the most used technique in clinical practice to evaluate left ventricular (LV) dysfunction, a multimodal approach is preferred for the early detection of anthracycline-induced cardiotoxicity. In this paper, an image processing tool allowing the qualitative and quantitative analysis of myocardial metabolic activity by [18F]fluorodeoxyglucose (FDG) positron emission tomography computed tomography (PET/CT) images, acquired routinely during and after cancer treatment, is presented. METHODS: The methodology is based on cardiac single photon emission computed tomography image processing protocols used in clinical practice. LV polar maps are created, and quantitative regional values are calculated. The tool was validated in a study group of 24 patients with Hodgkin or non-Hodgkin lymphoma (HL and NHL, respectively) treated with anthracyclines. Staging, interim and end-of-treatment [18F]FDG PET/CT images were acquired and the presented tool was used to extract the quantitative metrics of LV metabolic activity. RESULTS: Results show an overall increase of metabolic activity in the interim PET image acquired while on treatment compared to staging PET, which then decreased in the end-of-treatment scan. Positive correlation coefficients between staging and interim scans, and negative correlation coefficients between interim and end-of-treatment scans also support this finding. Metabolic changes occur predominantly in the septal region. CONCLUSION: The proposed methodology and presented software solution provides the capability to assess quantitatively myocardial metabolism acquired by routine [18F]FDG PET/CT scanning during cancer treatment for evaluating anthracycline-induced cardiotoxicity. The [18F]FDG PET/CT septal-lateral uptake ratio is proposed as a new quantitative measure of myocardial metabolism.


Asunto(s)
Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Antraciclinas/efectos adversos , Cardiotoxicidad/diagnóstico por imagen , Cardiotoxicidad/etiología , Humanos , Miocardio , Tomografía de Emisión de Positrones , Radiofármacos
12.
Arch Esp Urol ; 75(8): 684-692, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36330569

RESUMEN

OBJECTIVE: To assess the diagnostic accuracy of 18F-Choline PET/CT in the initial staging of high-risk prostate cancer (PC), and to compare it with conventional imaging techniques and to assess the changes in therapeutic attitude derived from its results. SECONDARY OBJECTIVES: To assess the concordance between 18F-Choline PET/CT and conventional study and to find related prognostic factors. MATERIAL AND METHODS: Retrospective observational study of 78 patients with high-risk PC undergoing 18F-Choline PET/CT after conventional initial staging (CT + BS). Sensitivity, specificity and predictive values of 18F-Choline PET/CT and CT + BS were calculated. The golden standard was histological result or follow-up. Tumor characteristics were collected and univariate and multivariate analyzes were performed. RESULTS: The median age was 67 years old and mean PSA was 42.39 ng/mL. The sensitivity, specificity and NPV in global initial staging for PET/CT 18F-Choline and conventional imaging were: 92.9% vs 38.5%, 83.3% vs 42.3%, and 90.9% vs 40.7%, respectively. Lymph node staging: sensitivity 96.3% vs 61.5% and specificity 80% vs 76%, respectively. Bone staging: sensitivity 91.7% vs 21.4% and specificity 97.4% vs 83.8%, respectively. There was agreement in 25 patients (32%) (p = 0.004), Kappa index 0.134 (p = 0.011). The treatment was modified in 47.4% patients. PSA, PSADT% positive cores and cT were related to PET results. PSA level <8.9 ng/mL was considered an independent protective factor for positive PET (OR 0.03) (95% CI: 0.002-0.435, p 0.010). CONCLUSIONS: 18F-Choline PET/CT seems to be superior to CT + BS for initial staging in high-risk PC. It could be considered because its results can change the treatment decision in almost half of the patients.


Asunto(s)
Colina , Neoplasias de la Próstata , Masculino , Humanos , Anciano , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Antígeno Prostático Específico , Neoplasias de la Próstata/patología , Ganglios Linfáticos/patología , Estadificación de Neoplasias , Tomografía de Emisión de Positrones
13.
J Alzheimers Dis ; 84(1): 73-78, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34459404

RESUMEN

The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND includes patients with intellectual disability, behavioral problems, and seizures with a static clinical course. However, a few reports have suggested regression. We describe a non-intellectually disabled female, with previous epilepsy and personality disorder, who developed early-onset dementia. The extensive etiologic study revealed a heterozygous nonsense de novo pathogenic variant in the MBD5 gene. This finding could support including the MBD5 gene in the study of patients with atypical early-onset dementia.


Asunto(s)
Codón sin Sentido , Proteínas de Unión al ADN/genética , Demencia , Mutación/genética , Demencia/etiología , Demencia/genética , Epilepsia/complicaciones , Femenino , Heterocigoto , Humanos , Persona de Mediana Edad , Pruebas Neuropsicológicas/estadística & datos numéricos , Trastornos de la Personalidad/complicaciones , Fenotipo , Tomografía Computarizada por Tomografía de Emisión de Positrones , Problema de Conducta/psicología
14.
Neurology ; 95(15): e2109-e2118, 2020 10 13.
Artículo en Inglés | MEDLINE | ID: mdl-32641525

RESUMEN

OBJECTIVE: To report a case of a patient infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who acutely developed a hypokinetic-rigid syndrome. METHODS: Patient data were obtained from medical records from the Hospital Universitario 12 de Octubre in Madrid, Spain. [123I]-ioflupane dopamine transporter (DaT) SPECT images were acquired 4 hours after a single dose of 185 MBq of 123I-FP-CIT. Quantitative analysis was performed with DaTQUANT software providing the specific binding ratio and z score values of the striatum. RESULTS: We report a previously healthy 58-year-old man who developed hyposmia, generalized myoclonus, fluctuating and transient changes in level of consciousness, opsoclonus, and an asymmetric hypokinetic-rigid syndrome with ocular abnormalities after a severe SARS-CoV-2 infection. DaT-SPECT confirmed a bilateral decrease in presynaptic dopamine uptake asymmetrically involving both putamina. Significant improvement in the parkinsonian symptoms was observed without any specific treatment. CONCLUSION: This case study provides clinical and functional neuroimaging evidence to support that SARS-CoV-2 can gain access to the CNS, affecting midbrain structures and leading to neurologic signs and symptoms.


Asunto(s)
Infecciones por Coronavirus/fisiopatología , Enfermedad de Parkinson Posencefalítica/fisiopatología , Neumonía Viral/fisiopatología , Putamen/diagnóstico por imagen , Betacoronavirus , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , COVID-19 , Trastornos de la Conciencia , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/diagnóstico por imagen , Progresión de la Enfermedad , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/metabolismo , Electroencefalografía , Humanos , Hipocinesia/diagnóstico por imagen , Hipocinesia/etiología , Hipocinesia/fisiopatología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Rigidez Muscular/diagnóstico por imagen , Rigidez Muscular/etiología , Rigidez Muscular/fisiopatología , Nortropanos , Trastornos de la Motilidad Ocular , Pandemias , Enfermedad de Parkinson Posencefalítica/diagnóstico por imagen , Enfermedad de Parkinson Posencefalítica/etiología , Neumonía Viral/complicaciones , Neumonía Viral/diagnóstico por imagen , Putamen/metabolismo , SARS-CoV-2 , Tomografía Computarizada de Emisión de Fotón Único
15.
EBioMedicine ; 57: 102834, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32586758

RESUMEN

BACKGROUND: Evidences of infectious pathogens in Alzheimer's disease (AD) brains may suggest a deteriorated innate immune system in AD pathophysiology. We previously demonstrated reduced salivary lactoferrin (Lf) levels, one of the major antimicrobial proteins, in AD patients. METHODS: To assess the clinical utility of salivary Lf for AD diagnosis, we examine the relationship between salivary Lf and cerebral amyloid-ß (Aß) load using amyloid-Positron-Emission Tomography (PET) neuroimaging, in two different cross-sectional cohorts including patients with different neurodegenerative disorders. FINDINGS: The diagnostic performance of salivary Lf in the cohort 1 had an area under the curve [AUC] of 0•95 (0•911-0•992) for the differentiation of the prodromal AD/AD group positive for amyloid-PET (PET+) versus healthy group, and 0•97 (0•924-1) versus the frontotemporal dementia (FTD) group. In the cohort 2, salivary Lf had also an excellent diagnostic performance in the health control group versus prodromal AD comparison: AUC 0•93 (0•876-0•989). Salivary Lf detected prodromal AD and AD dementia distinguishing them from FTD with over 87% sensitivity and 91% specificity. INTERPRETATION: Salivary Lf seems to have a very good diagnostic performance to detect AD. Our findings support the possible utility of salivary Lf as a new non-invasive and cost-effective AD biomarker. FUNDING: Instituto de Salud Carlos III (FIS15/00780, FIS18/00118), FEDER, Comunidad de Madrid (S2017/BMD-3700; NEUROMETAB-CM), and CIBERNED (PI2016/01) to E.C.; Spanish Ministry of Economy and Competitiveness (SAF2017-85310-R) to J.L.C., and (PSI2017-85311-P) to M.A.; International Centre on ageing CENIE-POCTEP (0348_CIE_6_E) to M.A.; Instituto de Salud Carlos III (PIE16/00021, PI17/01799), to H.B.


Asunto(s)
Enfermedad de Alzheimer/diagnóstico , Disfunción Cognitiva/genética , Lactoferrina/genética , Glándulas Salivales/metabolismo , Anciano , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Péptidos beta-Amiloides/genética , Péptidos beta-Amiloides/metabolismo , Biomarcadores/metabolismo , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Disfunción Cognitiva/patología , Femenino , Humanos , Inmunidad Innata/genética , Lactoferrina/metabolismo , Masculino , Persona de Mediana Edad , Neuroimagen/métodos , Tomografía de Emisión de Positrones/métodos , Tomografía Computarizada por Rayos X , Proteínas tau/genética
16.
J Alzheimers Dis ; 72(3): 677-681, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31640101

RESUMEN

Hereditary cerebral amyloid angiopathies (CAA) are rare disorders of early onset and severe course. We describe a 47-year-old patient with Iowa-type amyloid precursor protein (APP) mutation-related hereditary CAA that manifested with concomitant lobar hemorrhage and venous sinus thrombosis. To analyze the cerebral amyloid-ß burden, an amyloid-PET was performed, demonstrating low cortical retention except for the calcarine cortex. High amyloid retention was also found in the thalamus and pallidum. The co-occurrence of CAA and venous thrombosis has not been previously reported in Iowa CAA and its mechanism is yet to be elucidated. Low cortical florbetapir-PET uptake does not rule out CAA in young patients, who may benefit from genetic testing to reach diagnosis when suspicion is strong.


Asunto(s)
Precursor de Proteína beta-Amiloide/metabolismo , Angiopatía Amiloide Cerebral/metabolismo , Tomografía de Emisión de Positrones , Trombosis de la Vena/metabolismo , Precursor de Proteína beta-Amiloide/genética , Angiopatía Amiloide Cerebral/diagnóstico por imagen , Angiopatía Amiloide Cerebral/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Tomografía de Emisión de Positrones/métodos , Trombosis de la Vena/diagnóstico por imagen , Trombosis de la Vena/genética
17.
J Neurol ; 264(1): 121-130, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27815682

RESUMEN

Primary progressive aphasia (PPA) is considered a heterogeneous syndrome, with different clinical subtypes and neuropathological causes. Novel PET biomarkers may help to predict the underlying neuropathology, but many aspects remain unclear. We studied the relationship between amyloid PET and PPA variant in a clinical series of PPA patients. A systematic review of the literature was performed. Patients with PPA were assessed over a 2-year period and classified based on language testing and the International Consensus Criteria as non-fluent/agrammatic (nfvPPA), semantic (svPPA), logopenic variant (lvPPA) or as unclassifiable (ucPPA). All patients underwent a Florbetapir (18-F) PET scan and images were analysed by two nuclear medicine physicians, using a previously validated reading method. Relevant studies published between January 2004 and January 2016 were identified by searching Medline and Web of Science databases. Twenty-four PPA patients were included (13 women, mean age 68.8, SD 8.3 years; range 54-83). Overall, 13/24 were amyloid positive: 0/2 (0%) nfvPPA, 0/4 (0%) svPPA, 10/14 (71.4%) lvPPA and 3/4 (75%) ucPPA (p = 0.028). The systematic review identified seven relevant studies, six including all PPA variants and one only lvPPA. Pooling all studies together, amyloid PET positivity was 122/224 (54.5%) for PPA, 14/52 (26.9%) for nfvPPA, 6/47 (12.8%) for svPPA, 101/119 for lvPPA (84.9%) and 12/22 (54.5%) for ucPPA. Amyloid PET may help to identify the underlying neuropathology in PPA. It could be especially useful in ucPPA, because in these cases it is more difficult to predict pathology. ucPPA is frequently associated with amyloid pathology.


Asunto(s)
Amiloide/metabolismo , Afasia Progresiva Primaria/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Tomografía de Emisión de Positrones , Anciano , Afasia Progresiva Primaria/metabolismo , Afasia Progresiva Primaria/psicología , Encéfalo/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA