Simultaneous lesion and neuroanatomy segmentation in Multiple Sclerosis using deep neural networks

Segmentation of both white matter lesions and deep grey matter structures is an important task in the quantification of magnetic resonance imaging in multiple sclerosis. Typically these tasks are performed separately: in this paper we present a single segmentation solution based on convolutional neural networks (CNNs) for providing fast, reliable segmentations of multimodal magnetic resonance images into lesion classes and normal-appearing grey- and white-matter structures. We show substantial, statistically significant improvements in both Dice coefficient and in lesion-wise specificity and sensitivity, compared to previous approaches, and agreement with individual human raters in the range of human inter-rater variability. The method is trained on data gathered from a single centre: nonetheless, it performs well on data from centres, scanners and field-strengths not represented in the training dataset. A retrospective study found that the classifier successfully identified lesions missed by the human raters. Lesion labels were provided by human raters, while weak labels for other brain structures (including CSF, cortical grey matter, cortical white matter, cerebellum, amygdala, hippocampus, subcortical GM structures and choroid plexus) were provided by Freesurfer 5.3. The segmentations of these structures compared well, not only with Freesurfer 5.3, but also with FSL-First and Freesurfer 6.0

PRIVAFRAME: A Frame-Based Knowledge Graph for Sensitive Personal Data

The pervasiveness of dialogue systems and virtual conversation applications raises an important theme: the potential of sharing sensitive information, and the consequent need for protection. To guarantee the subject’s right to privacy, and avoid the leakage of private content, it is important to treat sensitive information. However, any treatment requires firstly to identify sensitive text, and appropriate techniques to do it automatically. The Sensitive Information Detection (SID) task has been explored in the literature in different domains and languages, but there is no common benchmark. Current approaches are mostly based on artificial neural networks (ANN) or transformers based on them. Our research focuses on identifying categories of personal data in informal English sentences, by adopting a new logical-symbolic approach, and eventually hybridising it with ANN models. We present a frame-based knowledge graph built for personal data categories defined in the Data Privacy Vocabulary (DPV). The knowledge graph is designed through the logical composition of already existing frames, and has been evaluated as background knowledge for a SID system against a labeled sensitive information dataset. The accuracy of PRIVAFRAME reached 78%. By comparison, a transformer-based model achieved 12% lower performance on the same dataset. The top-down logical-symbolic frame-based model allows a granular analysis, and does not require a training dataset. These advantages lead us to use it as a layer in a hybrid model, where the logical SID is combined with an ANNs SID tested in a previous study by the authors

Advances in monolingual and crosslingual automatic disability annotation in Spanish

Background Unlike diseases, automatic recognition of disabilities has not received the same attention in the area of medical NLP. Progress in this direction is hampered by obstacles like the lack of annotated corpus. Neural architectures learn to translate sequences from spontaneous representations into their corresponding standard representations given a set of samples. The aim of this paper is to present the last advances in monolingual (Spanish) and crosslingual (from English to Spanish and vice versa) automatic disability annotation. The task consists of identifying disability mentions in medical texts written in Spanish within a collection of abstracts from journal papers related to the biomedical domain. Results In order to carry out the task, we have combined deep learning models that use different embedding granularities for sequence to sequence tagging with a simple acronym and abbreviation detection module to boost the coverage. Conclusions Our monolingual experiments demonstrate that a good combination of different word embedding representations provide better results than single representations, significantly outperforming the state of the art in disability annotation in Spanish. Additionally, we have experimented crosslingual transfer (zero-shot) for disability annotation between English and Spanish with interesting results that might help overcoming the data scarcity bottleneck, specially significant for the disabilities.This work was partially funded by the Spanish Ministry of Science and Innovation (MCI/AEI/FEDER, UE, DOTT-HEALTH/PAT-MED PID2019-106942RB-C31), the Basque Government (IXA IT1570-22), MCIN/AEI/ 10.13039/501100011033 and European Union NextGeneration EU/PRTR (DeepR3, TED2021-130295B-C31) and the EU ERA-Net CHIST-ERA and the Spanish Research Agency (ANTIDOTE PCI2020-120717-2)

Vocabularies for description of accessibility issues in multimodal user interfaces

In previous work, we proposed a unified approach for describing multimodal human-computer interaction and interaction constraints in terms of sensual, motor, perceptual and cognitive functions of users. In this paper, we extend this work by providing formalised vocabularies that express human functionalities and anatomical structures required by specific modalities. The central theme of our approach is to connect these modality representations with descriptions of user, device and environmental constraints that influence the interaction. These descriptions can then be used in a reasoning framework that will exploit formal connections among interaction modalities and constraints. The focus of this paper is on specifying a comprehensive vocabulary of necessary concepts. Within the context of an interaction framework, we describe a number of examples that use this formalised knowledge

Automatic construction of rule-based ICD-9-CM coding systems

Background: In this paper we focus on the problem of automatically constructing ICD-9-CM coding systems for radiology reports. ICD-9-CM codes are used for billing purposes by health institutes and are assigned to clinical records manually following clinical treatment. Since this labeling task requires expert knowledge in the field of medicine, the process itself is costly and is prone to errors as human annotators have to consider thousands of possible codes when assigning the right ICD-9-CM labels to a document. In this study we use the datasets made available for training and testing automated ICD-9-CM coding systems by the organisers of an International Challenge on Classifying Clinical Free Text Using Natural Language Processing in spring 2007. The challenge itself was dominated by entirely or partly rule-based systems that solve the coding task using a set of hand crafted expert rules. Since the feasibility of the construction of such systems for thousands of ICD codes is indeed questionable, we decided to examine the problem of automatically constructing similar rule sets that turned out to achieve a remarkable accuracy in the shared task challenge. Results: Our results are very promising in the sense that we managed to achieve comparable results with purely hand-crafted ICD-9-CM classifiers. Our best model got a 90.26 % F measure on the training dataset and an 88.93 % F measure on the challenge test dataset, using the micro-averaged Fβ=1 measure, the official evaluatio

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease

Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing. Clinical laboratories are rapidly implementing next-generation sequencing-based whole-exome and whole-genome sequencing. Because a large number of targets are covered by whole-exome and whole-genome sequencing, it is critical that a laboratory perform appropriate validation studies, develop a quality assurance and quality control program, and participate in proficiency testing. Objective.-To provide recommendations for wholeexome and whole-genome sequencing assay design, validation, and implementation for the detection of germline variants associated in inherited disorders. Data Sources.-An example of trio sequencing, filtration and annotation of variants, and phenotypic consideration to arrive at clinical diagnosis is discussed. Conclusions.-It is critical that clinical laboratories planning to implement whole-exome and whole-genome sequencing design and validate the assay to specifications and ensure adequate performance prior to implementation. Test design specifications, including variant filtering and annotation, phenotypic consideration, guidance on consenting options, and reporting of incidental findings, are provided. These are important steps a laboratory must take to validate and implement whole-exome and whole-genome sequencing in a clinical setting for germline variants in inherited disorders