A subtraction pipeline for automatic detection of new appearing multiple sclerosis lesions in longitudinal studies.

INTRODUCTION: Time-series analysis of magnetic resonance images (MRI) is of great value for multiple sclerosis (MS) diagnosis and follow-up. In this paper, we present an unsupervised subtraction approach which incorporates multisequence information to deal with the detection of new MS lesions in longitudinal studies. METHODS: The proposed pipeline for detecting new lesions consists of the following steps: skull stripping, bias field correction, histogram matching, registration, white matter masking, image subtraction, automated thresholding, and postprocessing. We also combine the results of PD-w and T2-w images to reduce false positive detections. RESULTS: Experimental tests are performed in 20 MS patients with two temporal studies separated 12 (12M) or 48 (48M) months in time. The pipeline achieves very good performance obtaining an overall sensitivity of 0.83 and 0.77 with a false discovery rate (FDR) of 0.14 and 0.18 for the 12M and 48M datasets, respectively. The most difficult situation for the pipeline is the detection of very small lesions where the obtained sensitivity is lower and the FDR higher. CONCLUSION: Our fully automated approach is robust and accurate, allowing detection of new appearing MS lesions. We believe that the pipeline can be applied to large collections of images and also be easily adapted to monitor other brain pathologies.

Sacroiliitis associated with axial spondyloarthropathy: new concepts and latest trends.

The sacroiliac joints are involved in most cases of axial spondyloarthropathy, the first manifestation usually being sacroiliitis. A finding of sacroiliitis at radiography is the classic diagnostic hallmark of axial spondyloarthropathy. However, radiographic changes reflect structural damage rather than active inflammation, which may delay the diagnosis by several years. In the past decade, the field of spondyloarthropathy has undergone major changes, largely driven by the development of new drugs for the treatment of ankylosing spondylitis. In recent years, the Assessment of SpondyloArthritis international Society has focused on the reassessment of existing classification criteria and the development and validation of diagnostic tools to facilitate early diagnosis and assessment of treatment response. Magnetic resonance (MR) imaging is the most recent innovation and the important change with respect to the previously established classification criteria. This modality has become an integral part of managing patients with sacroiliitis. MR imaging can serve as a biomarker of disease activity, allows monitoring, and can provide guidance for the treatment of affected patients, and it will likely become even more central to the care of these patients. Familiarity with the anatomy, anatomic variants, and physiologic changes of the sacroiliac joints is important for correctly interpreting findings and avoiding misdiagnosis.

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).

OBJECTIVE: To describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA. METHODS: This is a descriptive study of a family that has been followed for more than a decade with periodic neurologic and neuropsychological examinations, MRI, brain SPECT perfusion, and genetic analysis. Whole exome sequencing was performed in 3 affected and 1 unaffected family member and subsequently validated by linkage analysis of chromosome 16p13.3. RESULTS: Six patients fully developed cognitive-affective and complete motor cerebellar syndrome associated with vermian and hemispheric cerebellar atrophy, suggesting a continuum from a dysexecutive syndrome slowly evolving to a complete and severe CCAS with late truncal ataxia. Three presymptomatic patients showed focal cerebellar atrophy in the vermian, paravermian, and the medial part of cerebellar lobes VI and VII, suggesting that cerebellar atrophy preceded the ataxia, and that the neurodegeneration begins in cerebellar areas related to cognition and emotion, spreading later to the whole cerebellum. Among the candidate variants, only the frameshift heterozygous c.823_824delCT STUB1 (p.L275Dfs*16) pathogenic variant cosegregated with the disease. The p.L275Dfs*16 heterozygous STUB1 pathogenic variant leads to neurodegeneration and atrophy in cognition- and emotion-related cerebellar areas and reinforces the importance of STUB1 in maintaining cognitive cerebellar function. CONCLUSIONS: We report a heterozygous STUB1 pathogenic genetic variant causing dominant cerebellar ataxia. Since recessive mutations in STUB1 gene have been previously associated with SCAR16, these findings suggest a previously undescribed SCA locus (SCA48; MIM# 618093).

BOOST: a supervised approach for multiple sclerosis lesion segmentation.

BACKGROUND: Automatic multiple sclerosis lesion segmentation is a challenging task. An extensive analysis of the most recent techniques indicates an improvement of the results obtained when using prior knowledge and contextual information. NEW METHOD: We present BOOST, a knowledge-based approach to automatically segment multiple sclerosis lesions through a voxel by voxel classification. We used the Gentleboost classifier and a set of features, including contextual features, registered atlas probability maps and an outlier map. RESULTS: Results are computed on a set of 45 cases from three different hospitals (15 of each), obtaining a moderate agreement between the manual annotations and the automatically segmented results. COMPARISON WITH EXISTING METHOD(S): We quantitatively compared our results with three public state-of-the-art approaches obtaining competitive results and a better overlap with manual annotations. Our approach tends to better segment those cases with high lesion load, while cases with small lesion load are more difficult to accurately segment. CONCLUSIONS: We believe BOOST has potential applicability in the clinical practice, although it should be improved in those cases with small lesion load.