In NeuroImage. Clinical

BACKGROUND AND OBJECTIVE : Both Alzheimer's disease (AD) and Parkinson's disease (PD) are progressive neurodegenerative diseases. Early identification is very important for the prevention and intervention of their progress. Hippocampus plays a crucial role in cognition, in which there are correlations between atrophy of Hippocampal subfields and cognitive impairment in neurodegenerative diseases. Exploring biomarkers in the prediction of early cognitive impairment in AD and PD is significant for understanding the progress of neurodegenerative diseases.

METHODS : A multi-scale attention-based deep learning method is proposed to perform computer-aided diagnosis for neurodegenerative disease based on Hippocampal subfields. First, the two dimensional (2D) Hippocampal Mapping Image (HMI) is constructed and used as input of three branches of the following network. Second, the multi-scale module and attention module are integrated into the 2D residual network to improve the diversity of the extracted features and capture significance of various voxels for classification. Finally, the role of Hippocampal subfields in the progression of different neurodegenerative diseases is analyzed using the proposed method.

RESULTS : Classification experiments between normal control (NC), mild cognitive impairment (MCI), AD, PD with normal cognition (PD-NC) and PD with mild cognitive impairment (PD-MCI) are carried out using the proposed method. Experimental results show that subfields subiculum, presubiculum, CA1, and molecular layer are strongly correlated with cognitive impairment in AD and MCI, subfields GC-DG and fimbria are sensitive in detecting early stage of cognitive impairment in MCI, subfields CA3, CA4, GC-DG, and CA1 show significant atrophy in PD. For exploring the role of Hippocampal subfields in PD cognitive impairment, we find that left parasubiculum, left HATA and left presubiculum could be important biomarkers for predicting conversion from PD-NC to PD-MCI.

CONCLUSION : The proposed multi-scale attention-based network can effectively discover the correlation between subfields and neurodegenerative diseases. Experimental results are consistent with previous clinical studies, which will be useful for further exploring the role of Hippocampal subfields in neurodegenerative disease progression.

Xu Hongbo, Liu Yan, Wang Ling, Zeng Xiangzhu, Xu Yingying, Wang Zeng

2023-Mar-15

Alzheimer’s disease, Deep learning, Hippocampal subfields, Mild cognitive impairment, Parkinson disease

In Medical image analysis

Ma Tianyu, Wang Alan Q, Dalca Adrian V, Sabuncu Mert R

2023-Mar-16

Convolutional Neural Networks, Deep Learning, Hyper-networks

In BMC pediatrics ; h5-index 44.0

BACKGROUND : Physical activity (PA) development in toddlers (age 1 and 2 years) is not well understood, partly because of a lack of analytic tools for accelerometer-based data processing that can accurately evaluate PA among toddlers. This has led to a knowledge gap regarding how parenting practices around PA, mothers' PA level, mothers' parenting stress, and child developmental and behavioral problems influence PA development in early childhood.

METHODS : The Child and Mother Physical Activity Study is a longitudinal study to observe PA development in toddlerhood and examine the influence of personal and parental characteristics on PA development. The study is designed to refine and validate an accelerometer-based machine learning algorithm for toddler activity recognition (Aim 1), apply the algorithm to compare the trajectories of toddler PA levels in males and females age 1-3 years (Aim 2), and explore the association between gross motor development and PA development in toddlerhood, as well as how parenting practices around PA, mothers' PA, mothers' parenting stress, and child developmental and behavioral problems are associated with toddlerhood PA development (Exploratory Aims 3a-c).

DISCUSSION : This study will be one of the first to use longitudinal data to validate a machine learning activity recognition algorithm and apply the algorithm to quantify free-living ambulatory movement in toddlers. The study findings will help fill a significant methodological gap in toddler PA measurement and expand the body of knowledge on the factors influencing early childhood PA development.

Welch Sarah B, Honegger Kyle, O’Brien Megan, Capan Selin, Kwon Soyang

2023-Mar-20

Accelerometry, Child development, Machine learning, Parenting, Physical activity

In BMC genomics ; h5-index 78.0

BACKGROUND : Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and clinical phenotypes. ClassifyCNV, X-CNV, StrVCTVRE, etc. have been trained to predict the pathogenicity of CNVs, but few studies have been reported based on the deleterious significance of features.

RESULTS : From single nucleotide polymorphism (SNP), gene and region dimensions, we collected 79 informative features that quantitatively describe the characteristics of CNV, such as CNV length, the number of protein genes, the number of three prime untranslated region. Then, according to the deleterious significance, we formulated quantitative methods for features, which fall into two categories: the first is variable type, including maximum, minimum and mean; the second is attribute type, which is measured by numerical sum. We used Gradient Boosted Trees (GBT) algorithm to construct dbCNV, which can be used to predict pathogenicity for five-tier classification and binary classification of CNVs. We demonstrated that the distribution of most feature values was consistent with the deleterious significance. The five-tier classification model accuracy for 0.85 and 0.79 in loss and gain CNVs, which proved that it has high discrimination power in predicting the pathogenicity of five-tier classification CNVs. The binary model achieved area under curve (AUC) values of 0.96 and 0.81 in the validation set, respectively, in gain and loss CNVs.

CONCLUSION : The performance of the dbCNV suggest that functional deleteriousness-based model of CNV is a promising approach to support the classification prediction and to further understand the pathogenic mechanism.

Lv Kangqi, Chen Dayang, Xiong Dan, Tang Huamei, Ou Tong, Kan Lijuan, Zhang Xiuming

2023-Mar-20

Copy number variation, Machine learning, Pathogenicity, XGBoost

In BMC bioinformatics

MOTIVATION : In single-cell transcriptomics and other omics technologies, large fractions of missing values commonly occur. Researchers often either consider only those features that were measured for each instance of their dataset, thereby accepting severe loss of information, or use imputation which can lead to erroneous results. Pairwise metrics allow for imputation-free classification with minimal loss of data.

RESULTS : Using pairwise correlations as metric, state-of-the-art approaches to classification would include the K-nearest-neighbor- (KNN) and distribution-based-classification-classifier. Our novel method, termed average correlations as features (ACF), significantly outperforms those approaches by training tunable machine learning models on inter-class and intra-class correlations. Our approach is characterized in simulation studies and its classification performance is demonstrated on real-world datasets from single-cell RNA sequencing and bottom-up proteomics. Furthermore, we demonstrate that variants of our method offer superior flexibility and performance over KNN classifiers and can be used in conjunction with other machine learning methods. In summary, ACF is a flexible method that enables missing value tolerant classification with minimal loss of data.

Schumann Yannis, Neumann Julia E, Neumann Philipp

2023-Mar-20

Classification, Correlation, Machine learning, Missing values, scRNA-seq

In Annals of family medicine

Lennon Robert, Calo William, Miller Erin, Zgierska Aleksandra, Van Scoy Lauren, Fraleigh Robert

2022-Apr-01