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Cancers Jun 2023The myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) category comprises a varied group of myeloid neoplastic diseases characterized by clinical and... (Review)
Review
The myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) category comprises a varied group of myeloid neoplastic diseases characterized by clinical and pathologic overlapping features of both myelodysplastic and myeloproliferative neoplasms. For these reasons, these tumors are challenging in terms of diagnosis. The recent World Health Organization (WHO) 2022 classification and the International Consensus Classification (ICC) made changes in the classification of MDS/MPN compared to the previous 2016 WHO classification and improved the diagnostic criteria of these entities. The aim of this review is to describe the main entities reported in the more recent classifications, focusing on chronic myelomonocytic leukemia (CMML), MDS/MPN with neutrophilia (or atypical CML [aCML]), and MDS/MPN with mutation and thrombocytosis/MDS/MPN with ring sideroblasts and thrombocytosis. A particular emphasis is given to the differential diagnosis and analysis of subtle divergences and semantic differences between the WHO classification and the ICC for these entities.
PubMed: 37370785
DOI: 10.3390/cancers15123175 -
Neuropsychiatric Disease and Treatment 2022The aim of this paper is to provide information regarding diversity in speech and language profiles of individuals with Autism Spectrum Disorders (ASD) and try to... (Review)
Review
The aim of this paper is to provide information regarding diversity in speech and language profiles of individuals with Autism Spectrum Disorders (ASD) and try to classify these profiles according to the combination of the communication difficulties. Research findings confirm the existence of heterogeneity of communication challenges in ASD across the lifespan. A lot of children with ASD experience communication challenges and strengths across all language sub-systems including pragmatics, grammar, semantics, syntax, phonology, and morphology in both oral and written language, while some children with autism demonstrate exceptional language abilities incl. linguistic creativity. Communication issues vary on a continuum of severity so that some children may be verbal, whereas others remain non-verbal or minimally-verbal. The diversity of profiles in speech and language development stem from either the presence of comorbid factors, as a core symptom of autistic behavior without comorbidity or both, with the development of complex clinical symptoms. Difficulties with the semantic aspect of language affect the individual's skills in abstract thinking, multiple meanings of words, concept categorization, and so on. Finally, the coexistence of ASD with other communication difficulties such as a Language Disorder, Apraxia of Speech, Speech Sound Disorders or/and other neurodevelopmental disorders raises the need for examining more carefully the emergence of new clinical profiles and clinical markers useful in performing differential diagnosis and different intervention.
PubMed: 36268264
DOI: 10.2147/NDT.S331987 -
The Lancet. Neurology Sep 2021Plasma tau phosphorylated at threonine 217 (p-tau217) and plasma tau phosphorylated at threonine 181 (p-tau181) are associated with Alzheimer's disease tau pathology. We...
Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer's disease and frontotemporal lobar degeneration: a retrospective diagnostic performance study.
BACKGROUND
Plasma tau phosphorylated at threonine 217 (p-tau217) and plasma tau phosphorylated at threonine 181 (p-tau181) are associated with Alzheimer's disease tau pathology. We compared the diagnostic value of both biomarkers in cognitively unimpaired participants and patients with a clinical diagnosis of mild cognitive impairment, Alzheimer's disease syndromes, or frontotemporal lobar degeneration (FTLD) syndromes.
METHODS
In this retrospective multicohort diagnostic performance study, we analysed plasma samples, obtained from patients aged 18-99 years old who had been diagnosed with Alzheimer's disease syndromes (Alzheimer's disease dementia, logopenic variant primary progressive aphasia, or posterior cortical atrophy), FTLD syndromes (corticobasal syndrome, progressive supranuclear palsy, behavioural variant frontotemporal dementia, non-fluent variant primary progressive aphasia, or semantic variant primary progressive aphasia), or mild cognitive impairment; the participants were from the University of California San Francisco (UCSF) Memory and Aging Center, San Francisco, CA, USA, and the Advancing Research and Treatment for Frontotemporal Lobar Degeneration Consortium (ARTFL; 17 sites in the USA and two in Canada). Participants from both cohorts were carefully characterised, including assessments of CSF p-tau181, amyloid-PET or tau-PET (or both), and clinical and cognitive evaluations. Plasma p-tau181 and p-tau217 were measured using electrochemiluminescence-based assays, which differed only in the biotinylated antibody epitope specificity. Receiver operating characteristic analyses were used to determine diagnostic accuracy of both plasma markers using clinical diagnosis, neuropathological findings, and amyloid-PET and tau-PET measures as gold standards. Difference between two area under the curve (AUC) analyses were tested with the Delong test.
FINDINGS
Data were collected from 593 participants (443 from UCSF and 150 from ARTFL, mean age 64 years [SD 13], 294 [50%] women) between July 1 and Nov 30, 2020. Plasma p-tau217 and p-tau181 were correlated (r=0·90, p<0·0001). Both p-tau217 and p-tau181 concentrations were increased in people with Alzheimer's disease syndromes (n=75, mean age 65 years [SD 10]) relative to cognitively unimpaired controls (n=118, mean age 61 years [SD 18]; AUC=0·98 [95% CI 0·95-1·00] for p-tau217, AUC=0·97 [0·94-0·99] for p-tau181; p=0·31) and in pathology-confirmed Alzheimer's disease (n=15, mean age 73 years [SD 12]) versus pathologically confirmed FTLD (n=68, mean age 67 years [SD 8]; AUC=0·96 [0·92-1·00] for p-tau217, AUC=0·91 [0·82-1·00] for p-tau181; p=0·22). P-tau217 outperformed p-tau181 in differentiating patients with Alzheimer's disease syndromes (n=75) from those with FTLD syndromes (n=274, mean age 67 years [SD 9]; AUC=0·93 [0·91-0·96] for p-tau217, AUC=0·91 [0·88-0·94] for p-tau181; p=0·01). P-tau217 was a stronger indicator of amyloid-PET positivity (n=146, AUC=0·91 [0·88-0·94]) than was p-tau181 (n=214, AUC=0·89 [0·86-0·93]; p=0·049). Tau-PET binding in the temporal cortex was more strongly associated with p-tau217 than p-tau181 (r=0·80 vs r=0·72; p<0·0001, n=230).
INTERPRETATION
Both p-tau217 and p-tau181 had excellent diagnostic performance for differentiating patients with Alzheimer's disease syndromes from other neurodegenerative disorders. There was some evidence in favour of p-tau217 compared with p-tau181 for differential diagnosis of Alzheimer's disease syndromes versus FTLD syndromes, as an indication of amyloid-PET-positivity, and for stronger correlations with tau-PET signal. Pending replication in independent, diverse, and older cohorts, plasma p-tau217 and p-tau181 could be useful screening tools to identify individuals with underlying amyloid and Alzheimer's disease tau pathology.
FUNDING
US National Institutes of Health, State of California Department of Health Services, Rainwater Charitable Foundation, Michael J Fox foundation, Association for Frontotemporal Degeneration, Alzheimer's Association.
Topics: Adult; Aged; Aged, 80 and over; Alzheimer Disease; Amyloid beta-Peptides; Biomarkers; Cognitive Dysfunction; Diagnosis, Differential; Female; Frontotemporal Lobar Degeneration; Humans; Male; Middle Aged; Phosphorylation; Positron-Emission Tomography; Predictive Value of Tests; Retrospective Studies; tau Proteins
PubMed: 34418401
DOI: 10.1016/S1474-4422(21)00214-3 -
Journal of Nuclear Medicine : Official... Jun 2022Since the invention of F-FDG as a neurochemical tracer in the 1970s, F-FDG PET has been used extensively for dementia research and clinical applications. FDG, a glucose...
Since the invention of F-FDG as a neurochemical tracer in the 1970s, F-FDG PET has been used extensively for dementia research and clinical applications. FDG, a glucose analog, is transported into the brain via glucose transporters and metabolized in a concerted process involving astrocytes and neurons. Although the exact cellular mechanisms of glucose consumption are still under investigation, F-FDG PET can sensitively detect altered neuronal activity due to neurodegeneration. Various neurodegenerative disorders affect different areas of the brain, which can be depicted as altered F-FDG uptake by PET. The spatial patterns and severity of such changes can be reproducibly visualized by statistical mapping technology, which has become widely available in the clinic. The differentiation of 3 major neurodegenerative disorders by F-FDG PET, Alzheimer disease (AD), frontotemporal dementia (FTD), and dementia with Lewy bodies (DLB), has become standard practice. As the nosology of FTD evolves, frontotemporal lobar degeneration, the umbrella term for pathology affecting the frontal and temporal lobes, has been subclassified clinically into behavioral variant FTD; primary progressive aphasia with 3 subtypes, semantic, nonfluent, and logopenic variants; and movement disorders including progressive supranuclear palsy and corticobasal degeneration. Each of these subtypes is associated with differential F-FDG PET findings. The discovery of new pathologic markers and clinicopathologic correlations via larger autopsy series have led to newly recognized or redefined disease categories, such as limbic-predominant age-related TDP-43 encephalopathy, hippocampus sclerosis, primary age-related tauopathy, and argyrophilic grain disease, which have become a focus of investigations by molecular imaging. These findings need to be integrated into the modern interpretation of F-FDG PET. Recent pathologic investigations also have revealed a high prevalence, particularly in the elderly, of mixed dementia with overlapping and coexisting pathologies. The interpretation of F-FDG PET is evolving from a traditional dichotomous diagnosis of AD versus FTD (or DLB) to a determination of the most predominant underlying pathology that would best explain the patient's symptoms, for the purpose of care guidance. F-FDG PET is a relatively low cost and widely available imaging modality that can help assess various neurodegenerative disorders in a single test and remains the workhorse in clinical dementia evaluation.
Topics: Aged; Alzheimer Disease; Fluorodeoxyglucose F18; Frontotemporal Dementia; Glucose; Humans; Neurodegenerative Diseases; Positron-Emission Tomography
PubMed: 35649653
DOI: 10.2967/jnumed.121.263194 -
The British Journal of Social Psychology Jan 2023Word embeddings provide quantitative representations of word semantics and the associations between word meanings in text data, including in large repositories in media... (Review)
Review
Word embeddings provide quantitative representations of word semantics and the associations between word meanings in text data, including in large repositories in media and social media archives. This article introduces social psychologists to word embedding research via a consideration of bias analysis, a topic of central concern in the discipline. We explain how word embeddings are constructed and how they can be used to measure bias along bipolar dimensions that are comparable to semantic differential scales. We review recent studies that show how familiar social biases can be detected in embeddings and how these change over time and in conjunction with real-world discriminatory practices. The evidence suggests that embeddings yield valid and reliable estimates of bias and that they can identify subtle biases that may not be communicated explicitly. We argue that word embedding research can extend scholarship on prejudice and stereotyping, providing measures of the bias environment of human thought and action.
Topics: Humans; Semantics; Prejudice; Stereotyping
PubMed: 35871272
DOI: 10.1111/bjso.12560 -
Frontiers in Artificial Intelligence 2023In recent years, with the rapid development of deep learning technology, great progress has been made in computer vision, image recognition, pattern recognition, and... (Review)
Review
In recent years, with the rapid development of deep learning technology, great progress has been made in computer vision, image recognition, pattern recognition, and speech signal processing. However, due to the black-box nature of deep neural networks (DNNs), one cannot explain the parameters in the deep network and why it can perfectly perform the assigned tasks. The interpretability of neural networks has now become a research hotspot in the field of deep learning. It covers a wide range of topics in speech and text signal processing, image processing, differential equation solving, and other fields. There are subtle differences in the definition of interpretability in different fields. This paper divides interpretable neural network (INN) methods into the following two directions: model decomposition neural networks, and semantic INNs. The former mainly constructs an INN by converting the analytical model of a conventional method into different layers of neural networks and combining the interpretability of the conventional model-based method with the powerful learning capability of the neural network. This type of INNs is further classified into different subtypes depending on which type of models they are derived from, i.e., mathematical models, physical models, and other models. The second type is the interpretable network with visual semantic information for user understanding. Its basic idea is to use the visualization of the whole or partial network structure to assign semantic information to the network structure, which further includes convolutional layer output visualization, decision tree extraction, semantic graph, etc. This type of method mainly uses human visual logic to explain the structure of a black-box neural network. So it is a post-network-design method that tries to assign interpretability to a black-box network structure afterward, as opposed to the pre-network-design method of model-based INNs, which designs interpretable network structure beforehand. This paper reviews recent progress in these areas as well as various application scenarios of INNs and discusses existing problems and future development directions.
PubMed: 37899962
DOI: 10.3389/frai.2023.974295 -
Materials (Basel, Switzerland) Feb 2023Biobased composites offer unique properties in the context of sustainable material production as well as end-of-life disposal, which places them as viable alternatives...
Biobased composites offer unique properties in the context of sustainable material production as well as end-of-life disposal, which places them as viable alternatives to fossil-fuel-based materials. However, the large-scale application of these materials in product design is hindered by their perceptual handicaps and understanding the mechanism of biobased composite perception, and its constituents could pave the way to creating commercially successful biobased composites. This study examines the role of bimodal (visual and tactile) sensory evaluation in the formation of biobased composite perception through the Semantic Differential method. It is observed that the biobased composites could be grouped into different clusters based on the dominance and interplay of various senses in perception forming. Attributes such as , , and are seen to correlate with each other positively and are influenced by both visual and tactile characteristics of the biobased composites. Attributes such as , , and are also positively correlated but dominated by visual stimuli. The perceptual relationships and components of beauty, naturality, and value and their constituent attributes are identified, along with the visual and tactile characteristics that influence these assessments. Material design leveraging these biobased composite characteristics could lead to the creation of sustainable materials that would be more attractive to designers and consumers.
PubMed: 36902959
DOI: 10.3390/ma16051844 -
Journal of Alzheimer's Disease : JAD 2023Semantic and Phonological fluency (SF and PF) are routinely evaluated in patients with Alzheimer's disease (AD). There are disagreements in the literature regarding... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Semantic and Phonological fluency (SF and PF) are routinely evaluated in patients with Alzheimer's disease (AD). There are disagreements in the literature regarding which fluency task is more affected while developing AD. Most studies focus on SF assessment, given its connection with the temporoparietal amnesic system. PF is less reported, it is related to working memory, which is also impaired in probable and diagnosed AD. Differentiating between performance on these tasks might be informative in early AD diagnosis, providing an accurate linguistic profile.
OBJECTIVE
Compare SF and PF performance in healthy volunteers, volunteers with probable AD, and patients with AD diagnosis, considering the heterogeneity of age, gender, and educational level variables.
METHODS
A total of 8 studies were included for meta-analysis, reaching a sample size of 1,270 individuals (568 patients diagnosed with AD, 340 with probable AD diagnosis, and 362 healthy volunteers).
RESULTS
The three groups consistently performed better on SF than PF. When progressing to a diagnosis of AD, we observed a significant difference in SF and PF performance across our 3 groups of interest (p = 0.04). The age variable explained a proportion of this difference in task performance across the groups, and as age increases, both tasks equally worsen.
CONCLUSION
The performance of SF and PF might play a differential role in early AD diagnosis. These tasks rely on partially different neural bases of language processing. They are thus worth exploring independently in diagnosing normal aging and its transition to pathological stages, including probable and diagnosed AD.
Topics: Humans; Semantics; Alzheimer Disease; Verbal Behavior; Neuropsychological Tests; Linguistics
PubMed: 37482994
DOI: 10.3233/JAD-221272 -
Computers in Biology and Medicine Jun 2021Ontology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease...
Ontology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease domains. Particularly, semantic similarity facilitates diagnostic hypothesis generation through comparison with disease phenotype profiles. However, the approach has not been applied for differential diagnosis of common diseases, or generalised clinical diagnostics from uncurated text-derived phenotypes. In this work, we describe the development of an approach for deriving patient phenotype profiles from clinical narrative text, and apply this to text associated with MIMIC-III patient visits. We then explore the use of semantic similarity with those text-derived phenotypes to classify primary patient diagnosis, comparing the use of patient-patient similarity and patient-disease similarity using phenotype-disease profiles previously mined from literature. We also consider a combined approach, in which literature-derived phenotypes are extended with the content of text-derived phenotypes we mined from 500 patients. The results reveal a powerful approach, showing that in one setting, uncurated text phenotypes can be used for differential diagnosis of common diseases, making use of information both inside and outside the setting. While the methods themselves should be explored for further optimisation, they could be applied to a variety of clinical tasks, such as differential diagnosis, cohort discovery, document and text classification, and outcome prediction.
Topics: Diagnosis, Differential; Humans; Phenotype; Rare Diseases; Semantics
PubMed: 33836447
DOI: 10.1016/j.compbiomed.2021.104360 -
Journal of the International... Oct 2023To compare longitudinal verbal fluency performance among Latinx Spanish speakers who develop Alzheimer's disease to those who do not develop dementia in absolute number...
OBJECTIVE
To compare longitudinal verbal fluency performance among Latinx Spanish speakers who develop Alzheimer's disease to those who do not develop dementia in absolute number of words produced on each task and their ratio to combine both scores.
METHOD
Participants included 833 Latinx Spanish-speaking older adults from a community-based prospective cohort in Manhattan. We performed growth curve modeling to investigate the trajectories of letter and semantic fluency, and their ratio (i.e., 'semantic index'), between individuals who developed Alzheimer's disease and those who did not (i.e., controls). The semantic index quantifies the proportion of words generated for semantic fluency in relation to the total verbal fluency performance.
RESULTS
Letter fluency performance did not decline in controls; we observed a linear decline in those who developed Alzheimer's disease. Semantic fluency declined in both groups and showed an increased rate of change over time in the incident Alzheimer's disease group; in comparison, the control group had a linear and slower decline. There were no group differences in the longitudinal trajectory (intercept and slope) of the semantic index.
CONCLUSION
A decline in letter fluency and a more rapid and accelerating decline over time in semantic fluency distinguished people who developed Alzheimer's disease from controls. Using the semantic index was not a superior marker of incident Alzheimer's disease compared to examining the two fluency scores individually. Results suggest the differential decline in verbal fluency tasks, when evaluated appropriately, may be useful for early identification of Alzheimer's disease in Latinx Spanish speakers, a historically understudied population.
Topics: Aged; Humans; Alzheimer Disease; Hispanic or Latino; Neuropsychological Tests; Prospective Studies; Semantics; Verbal Behavior; Speech Disorders
PubMed: 36637058
DOI: 10.1017/S1355617722000856