Texture-based Classification for the Automatic Rating of the Perivascular Spaces in Brain MRI

Los espacios perivasculares (EVP) se relacionan con una cognición deficiente, depresión en la edad avanzada, enfermedad de Parkinson, inflamación, hipertensión y enfermedad de pequeños vasos cerebrales, cuando están agrandados y son visibles en imágenes de resonancia magnética (MRI). En este artículo exploramos cómo clasificar la densidad del PVS agrandado en los ganglios basales (BG) mediante la descripción de la textura de la RM cerebral estructural. La textura de la región BG se describe mediante estadísticas de primer orden y características derivadas de la matriz de co-ocurrencia, ambas computadas a partir de la imagen original y los coeficientes producidos por la transformada de wavelet discreta (WSF y WCF, respectivamente), y patrones binarios locales (LBP). Los resultados experimentales con un clasificador de Máquina de vectores de soporte (SVM) muestran que WCF logra una precisión del 80.03%

The possible causes for sulcal hyperintensities on FLAIR images on brain MRI: the dataset derived from a systematic review

This report describes the data related to the article entitiled: “Relationship between inferior frontal sulcal hyperintensities on brain MRI, ageing and cerebral small vessel disease”. This systematic review was conducted to assess possible causes for sulcal hyperintensities on fluid-attenuated inversion recovery (FLAIR) images on brain MRI

Reliability of an automatic classifier for brain enlarged perivascular spaces burden and comparison with human performance

pp. 1465-1481En el cerebro, los espacios perivasculares agrandados (PVS) se relacionan con la enfermedad de los vasos pequeños (SVD), mala cognición, inflamación e hipertensión. Proponemos un esquema totalmente automático que utiliza una máquina de vectores de soporte (SVM) para clasificar la carga de PVS en los ganglios basales (BG) como baja o alta. Evaluamos el rendimiento de tres tipos diferentes de descriptores extraídos de la región BG en imágenes de RMN ponderadas en T2: (I) estadísticas obtenidas de los coeficientes de la transformada de Wavelet, (II) patrones binarios locales y (III) bolsa de palabras visuales (BoW), descriptores basados en la caracterización de claves locales obtenidas de una rejilla densa con las características de transformación de la función de escala-invariante (SIFT). Cuando se utilizaron estos últimos, el SVM clasificador alcanzó la mejor precisión (81,16%). Lo obtenido del clasificador utilizando los descriptores del BoW se comparó con las calificaciones visuales realizadas por un neurorradiólogo experimentado (observador 1) y por un analista de imágenes entrenado (observador 2). El acuerdo y la correlación cruzada entre el clasificador y el observador 2 (κ = 0,67 (0,58 – 0,76)) fueron ligeramente más altos que entre el clasificador y el observador 1 (κ = 0,62 (0,53 – 0,72)) y entre ambos observadores (κ = 0,68 (0,61 – 0,75)). Por último, se construyeron tres modelos de regresión logística que utilizan variables clínicas como variable independiente y cada una de las clasificaciones de PVS como variable dependiente, para evaluar clínicamente lo significativas que resultan las predicciones del clasificador. El ajuste del modelo para el clasificador era bueno (área bajo la curva (AUC) valores: 0,93 (modelo 1), 0,90 (modelo 2) y 0,92 (modelo 3)) y un poco mejor (es decir, valores de AUC: 0,02 unidades superiores) que las del modelo para el observador 2. Estos resultados sugieren que, aunque se puede mejorar, un clasificador automático para evaluar la carga de PVS de la resonancia magnética del cerebro puede proporcionar resultados clínicamente significativos cercanos a los de un observador entrenado.S

Corticotropinoma as a Component of Carney Complex.

Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown. In this study, we report a case of Cushing disease (CD) due to a loss-of-function mutation in PRKAR1A, providing evidence for association of this gene with a corticotropinoma. A 15-year-old male presenting with hypercortisolemia was diagnosed with CD. Remission was achieved after surgical resection of a corticotropin (ACTH)-producing pituitary microadenoma, but recurrence 3 years later prompted reoperation and radiotherapy. Five years after the original diagnosis, the patient developed ACTH-independent Cushing syndrome, and a diagnosis of primary pigmented nodular adrenocortical disease was confirmed. A PRKAR1A mutation (c.671delG, p.G225Afs*16) was detected in a germline DNA sample from the patient, which displayed loss of heterozygosity in the corticotropinoma. No other germline or somatic mutations of interest were found. As corticotropinomas are not a known component of Carney complex (CNC), we performed loss of heterozygosity and messenger RNA stability studies in the patient's tissues, and analyzed the effect of Prkar1a silencing on AtT-20/D16v-F2 mouse corticotropinoma cells. No PRKAR1A defects were found among 97 other pediatric CD patients studied. Our clinical case and experimental data support a role for PRKAR1A in the pathogenesis of a corticotroph cell tumor. This is a molecularly confirmed report of a corticotropinoma presenting in association with CNC. We conclude that germline PRKAR1A mutations are a novel, albeit apparently infrequent, cause of CD

Textural Characterisation on Regions of Interest: A Useful Tool for the Study of Small Vessel Disease

Proponemos un marco para investigar las propiedades de los tejidos aparentemente normales en las imágenes de resonancia magnética de la estructura cerebral de pacientes con enfermedad de vasos pequeños (SVD). Implica la extracción de entidades texturales en regiones de interés (ROI) obtenidas a partir de una plantilla anatómicamente relevante, combinada con un análisis estadístico que considere la distribución relativa de marcadores SVD (por ejemplo, microsangrados, espacios perivasculares e hiperintensidades de materia blanca) con respecto a las características texturales de las regiones de interés, en los territorios arteriales derivados de otra plantilla. Aplicamos este enfoque a los datos de 42 pacientes de un estudio de accidente cerebrovascular leve para investigar si los tejidos normales en diferentes regiones cerebrales son homogéneos independientemente de la presencia de marcadores y variedades de SVD específicos en las manifestaciones de la patología (accidente cerebrovascular en diferentes territorios arteriales). Nuestros resultados sugieren que este no es el caso: que los tejidos normales son heterogéneos y que las variaciones locales (representadas por la entropía) están asociadas con marcadores SVD, de acuerdo con los informes clínicos

Influence of thickening of the inner skull table on intracranial volume measurement in older people

INTRODUCTION: It is generally assumed that intracranial volume (ICV) remains constant after peaking in early adulthood. Thus ICV is used as a ‘proxy’ for original brain size when trying to estimate brain atrophy in older people in neuroimaging studies. However, physiological changes in the skull, such as thickening of the frontal inner table, are relatively common in older age and will reduce ICV. The potential influence that inner table skull thickening may have on ICV measurement in old age has yet to be investigated. METHODS: We selected 60 (31 males, 29 females) representative older adults aged 71.1–74.3 years from a community-dwelling ageing cohort, the Lothian Birth Cohort 1936. A semi-automatically derived current ICV measurement obtained from high resolution T1-weighted volume scans was compared to the estimated original ICV by excluding inner skull table thickening using expert manual image processing. RESULTS: Inner table skull thickening reduced ICV from an estimated original 1480.0 ml to a current 1409.1 ml, a median decrease of 7.3% (Z = − 6.334; p < 0.001), and this reduction was more prominent in women than men (median decrease 114.6 vs. 101.9 ml respectively). This led to potential significant underestimations of brain atrophy in this sample by 5.3% (p < 0.001) and obscured potential gender differences. CONCLUSIONS: The effects of skull thickening are important to consider when conducting research in ageing, as they can obscure gender differences and result in underestimation of brain atrophy. Research into reliable methods of determining the estimated original ICV is required for research into brain ageing

Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications

Chromosome 14q32 rearrangements/translocations involving the immunoglobulin heavy chain (IGH) are rarely detected in chronic lymphocytic leukemia (CLL). The prognostic significance of the IGH translocation is controversial and its mutational profile remains unknown. Here, we present for the first time a comprehensive next-generation sequencing (NGS) analysis of 46 CLL patients with IGH rearrangement (IGHR-CLLs) and we demonstrate that IGHR-CLLs have a distinct mutational profile with recurrent mutations in NOTCH1, IGLL5, POT1, BCL2, FBXW7, ZMYM3, MGA, BRAF and HIST1H1E genes. Interestingly, BCL2 and FBXW7 mutations were significantly associated with this subgroup and almost half of BCL2, IGLL5 and HISTH1E mutations reported were previously identified in non-Hodgkin lymphomas. Notably, IGH/BCL2 rearrangements were associated with a lower mutation frequency and carried BCL2 and IGLL5 mutations, while the other IGHR-CLLs had mutations in genes related to poor prognosis (NOTCH1, SF3B1 and TP53) and shorter time to first treatment (TFT). Moreover, IGHR-CLLs patients showed a shorter TFT than CLL patients carrying 13q-, normal fluorescence in situ hybridization (FISH) and +12 CLL, being this prognosis particularly poor when NOTCH1, SF3B1, TP53, BIRC3 and BRAF were also mutated. The presence of these mutations not only was an independent risk factor within IGHR-CLLs, but also refined the prognosis of low-risk cytogenetic patients (13q-/normal FISH). Hence, our study demonstrates that IGHR-CLLs have a distinct mutational profile from the majority of CLLs and highlights the relevance of incorporating NGS and the status of IGH by FISH analysis to refine the risk-stratification CLL model

Mediterranean-type diet and brain structural change from 73 to 76 years in a Scottish cohort

STUDY FUNDING The data were collected by a Research into Ageing programme grant; research continues as part of the Age UK–funded Disconnected Mind project. The work was undertaken by The University of Edinburgh Centre for Cognitive Ageing and Cognitive Epidemiology, part of the cross-council Lifelong Health and Wellbeing Initiative (MR/K026992/1), with funding from the BBSRC and Medical Research Council. Imaging and image analysis was performed at the Brain Research Imaging Centre (sbirc.ed.ac.uk/), Edinburgh, supported by the Scottish Funding Council SINAPSE Collaboration. Derivation of mean cortical thickness measures was funded by the Scottish Funding Council’s Postdoctoral and Early Career Researchers Exchange Fund awarded by SINAPSE to David Alexander Dickie. L.C.A.C. acknowledges funding from the Scottish Government's Rural and Environment Science and Analytical Services (RESAS) division.Peer reviewedPublisher PD

Transcriptome analyses throughout chili pepper fruit development reveal novel insights into the domestication process

Chili pepper (Capsicum spp.) is an important crop, as well as a model for fruit development studies and domestication. Here, we performed a time-course experiment to estimate standardized gene expression profiles with respect to fruit development for six domesticated and four wild chili pepper ancestors. We sampled the transcriptomes every 10 days from flowering to fruit maturity, and found that the mean standardized expression profiles for domesticated and wild accessions significantly differed. The mean standardized expression was higher and peaked earlier for domesticated vs. wild genotypes, particularly for genes involved in the cell cycle that ultimately control fruit size. We postulate that these gene expression changes are driven by selection pressures during domestication and show a robust network of cell cycle genes with a time shift in expression, which explains some of the differences between domesticated and wild phenotypes