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  • 1
    Online Resource
    Online Resource
    Clinical features of NOTCH2NLC -related neuronal intranuclear inclusion disease
    BMJ ; 2022
    In:  Journal of Neurology, Neurosurgery & Psychiatry Vol. 93, No. 12 ( 2022-12), p. 1289-1298
    Details
    In: Journal of Neurology, Neurosurgery & Psychiatry, BMJ, Vol. 93, No. 12 ( 2022-12), p. 1289-1298
    Abstract: Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the clinical features of NOTCH2NLC -related NIID in China. Methods Patients with NOTCH2NLC -related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy. Results In the 247 patients with NOTCH2NLC -related NIID, 149 cases were sporadic, while 98 had a positive family history. The most common manifestations were paroxysmal symptoms (66.8%), autonomic dysfunction (64.0%), movement disorders (50.2%), cognitive impairment (49.4%) and muscle weakness (30.8%). Based on the initial presentation and main symptomology, NIID was divided into four subgroups: dementia dominant (n=94), movement disorder dominant (n=63), paroxysmal symptom dominant (n=61) and muscle weakness dominant (n=29). Clinical (42.7%) and subclinical (49.1%) peripheral neuropathies were common in all types. Typical diffusion-weighted imaging subcortical lace signs were more frequent in patients with dementia (93.9%) and paroxysmal symptoms types (94.9%) than in those with muscle weakness (50.0%) and movement disorders types (86.4%). GGC repeat sizes were negatively correlated with age of onset (r=−0.196, p 〈 0.05), and in the muscle weakness-dominant type (median 155.00), the number of repeats was much higher than in the other three groups (p 〈 0.05). In NIID pedigrees, significant genetic anticipation was observed (p 〈 0.05) without repeat instability (p=0.454) during transmission. Conclusions NIID is not rare; however, it is usually misdiagnosed as other diseases. Our results help to extend the known clinical spectrum of NOTCH2NLC -related NIID.
    Type of Medium: Online Resource
    ISSN: 0022-3050 , 1468-330X
    URL: Article
    DOI: 10.1136/jnnp-2022-329772
    RVK:
    XA 10000
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 1480429-3
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  • 2
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    Random Forest Model in the Diagnosis of Dementia Patients with Normal Mini-Mental State Examination Scores
    MDPI AG ; 2022
    In:  Journal of Personalized Medicine Vol. 12, No. 1 ( 2022-01-04), p. 37-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 12, No. 1 ( 2022-01-04), p. 37-
    Abstract: Background: Mini-Mental State Examination (MMSE) is the most widely used tool in cognitive screening. Some individuals with normal MMSE scores have extensive cognitive impairment. Systematic neuropsychological assessment should be performed in these patients. This study aimed to optimize the systematic neuropsychological test battery (NTB) by machine learning and develop new classification models for distinguishing mild cognitive impairment (MCI) and dementia among individuals with MMSE ≥ 26. Methods: 375 participants with MMSE ≥ 26 were assigned a diagnosis of cognitively unimpaired (CU) (n = 67), MCI (n = 174), or dementia (n = 134). We compared the performance of five machine learning algorithms, including logistic regression, decision tree, SVM, XGBoost, and random forest (RF), in identifying MCI and dementia. Results: RF performed best in identifying MCI and dementia. Six neuropsychological subtests with high-importance features were selected to form a simplified NTB, and the test time was cut in half. The AUC of the RF model was 0.89 for distinguishing MCI from CU, and 0.84 for distinguishing dementia from nondementia. Conclusions: This simplified cognitive assessment model can be useful for the diagnosis of MCI and dementia in patients with normal MMSE. It not only optimizes the content of cognitive evaluation, but also improves diagnosis and reduces missed diagnosis.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm12010037
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2662248-8
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  • 3
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    Learning Cognitive-Test-Based Interpretable Rules for Prediction and Early Diagnosis of Dementia Using Neural Networks
    IOS Press ; 2022
    In:  Journal of Alzheimer's Disease Vol. 90, No. 2 ( 2022-11-08), p. 609-624
    Details
    In: Journal of Alzheimer's Disease, IOS Press, Vol. 90, No. 2 ( 2022-11-08), p. 609-624
    Abstract: Background: Accurate, cheap, and easy to promote methods for dementia prediction and early diagnosis are urgently needed in low- and middle-income countries. Integrating various cognitive tests using machine learning provides promising solutions. However, most effective machine learning models are black-box models that are hard to understand for doctors and could hide potential biases and risks. Objective: To apply cognitive-test-based machine learning models in practical dementia prediction and diagnosis by ensuring both interpretability and accuracy. Methods: We design a framework adopting Rule-based Representation Learner (RRL) to build interpretable diagnostic rules based on the cognitive tests selected by doctors. According to the visualization and test results, doctors can easily select the final rules after analysis and trade-off. Our framework is verified on the Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset (n = 606) and Peking Union Medical College Hospital (PUMCH) dataset (n = 375). Results: The predictive or diagnostic rules learned by RRL offer a better trade-off between accuracy and model interpretability than other representative machine learning models. For mild cognitive impairment (MCI) conversion prediction, the cognitive-test-based rules achieve an average area under the curve (AUC) of 0.904 on ADNI. For dementia diagnosis on subjects with a normal Mini-Mental State Exam (MMSE) score, the learned rules achieve an AUC of 0.863 on PUMCH. The visualization analyses also verify the good interpretability of the learned rules. Conclusion: With the help of doctors and RRL, we can obtain predictive and diagnostic rules for dementia with high accuracy and good interpretability even if only cognitive tests are used.
    Type of Medium: Online Resource
    ISSN: 1387-2877 , 1875-8908
    URL: Article
    DOI: 10.3233/JAD-220502
    Language: Unknown
    Publisher: IOS Press
    Publication Date: 2022
    detail.hit.zdb_id: 2070772-1
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  • 4
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    Toward a stable and low-resource PLM-based medical diagnostic system via prompt tuning and MoE structure
    Springer Science and Business Media LLC ; 2023
    In:  Scientific Reports Vol. 13, No. 1 ( 2023-08-03)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2023-08-03)
    Abstract: Machine learning (ML) has been extensively involved in assistant disease diagnosis and prediction systems to emancipate the serious dependence on medical resources and improve healthcare quality. Moreover, with the booming of pre-training language models (PLMs), the application prospect and promotion potential of machine learning methods in the relevant field have been further inspired. PLMs have recently achieved tremendous success in diverse text processing tasks, whereas limited by the significant semantic gap between the pre-training corpus and the structured electronic health records (EHRs), PLMs cannot converge to anticipated disease diagnosis and prediction results. Unfortunately, establishing connections between PLMs and EHRs typically requires the extraction of curated predictor variables from structured EHR resources, which is tedious and labor-intensive, and even discards vast implicit information.In this work, we propose an Input Prompting and Discriminative language model with the Mixture-of-experts framework (IPDM) by promoting the model’s capabilities to learn knowledge from heterogeneous information and facilitating the feature-aware ability of the model. Furthermore, leveraging the prompt-tuning mechanism, IPDM can inherit the impacts of the pre-training in downstream tasks exclusively through minor modifications. IPDM remarkably outperforms existing models, proved by experiments on one disease diagnosis task and two disease prediction tasks. Finally, experiments with few-feature and few-sample demonstrate that IPDM achieves significant stability and impressive performance in predicting chronic diseases with unclear early-onset characteristics or sudden diseases with insufficient data, which verifies the superiority of IPDM over existing mainstream methods, and reveals the IPDM can powerfully address the aforementioned challenges via establishing a stable and low-resource medical diagnostic system for various clinical scenarios.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-023-39543-2
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2615211-3
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  • 5
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    Table_1.DOCX
    Frontiers Media SA ; 2023
    In:  Frontiers in Aging Neuroscience Vol. 15 ( 2023-3-31)
    Details
    In: Frontiers in Aging Neuroscience, Frontiers Media SA, Vol. 15 ( 2023-3-31)
    Abstract: Apolipoprotein-E ( APOE ) ε4 is a major genetic risk factor for Alzheimer’s disease (AD). Current studies, which were mainly based on the clinical diagnosis rather than biomarkers, come to inconsistent conclusions regarding the associations of APOE ε4 homozygotes ( APOE ε4/ε4 ) and cerebrospinal fluid (CSF) biomarkers of AD. In addition, few studies have explored the associations of APOE ε4/ε4 with plasma biomarkers. Therefore, we aimed to investigate the associations of APOE ε4/ε4 with fluid biomarkers in dementia and biomarker-diagnosed AD. Methods A total of 297 patients were enrolled. They were classified into Alzheimer’s continuum, AD, and non-AD, according to CSF biomarkers and/or β amyloid PET results. AD was a subgroup of the AD continuum. Plasma Amyloid β (Aβ) 40, Aβ42, glial fibrillary acidic protein (GFAP), neurofilament light chain (NFL), and phosphorylated tau (P-tau)181 were quantified in 144 of the total population using an ultra-sensitive Simoa technology. We analyzed the associations of APOE ε4/ε4 on CSF and plasma biomarkers in dementia and biomarker diagnosed AD. Results Based on the biomarker diagnostic criteria, 169 participants were diagnosed with Alzheimer’s continuum and 128 individuals with non-AD, and among the former, 120 patients with AD. The APOE ε4/ε4 frequencies were 11.8% (20/169), 14.2% (17/120), and 0.8% (1/128) in Alzheimer’s continuum, AD and non-AD, respectively. Only CSF Aβ42 was shown to be decreased in APOE ε4/ε4 carriers than in non-carriers for patients with AD ( p  = 0.024). Furthermore, we did not find any associations of APOE ε4 with plasma biomarkers of AD and non-AD. Interestingly, we found that in non-AD patients, APOE ε4 carriers had lower CSF Aβ42 ( p  = 0.018) and higher T-tau/Aβ42 ratios ( p   & lt; 0.001) and P-tau181/Aβ42 ratios ( p  = 0.002) than non-carriers. Conclusion Our data confirmed that of the three groups (AD continuum, AD, and non-AD), those with AD had the highest frequency of APOE ɛ4/ɛ4 genotypes. The APOE ɛ4/ɛ4 was associated with CSF levels of Aβ42 but not tau for AD and non-AD, suggesting that APOE ɛ4/ɛ4 affected the Aβ metabolism of both. No associations between APOE ε4/ɛ4 and plasma biomarkers of AD and non-AD were found.
    Type of Medium: Online Resource
    ISSN: 1663-4365
    URL: Article
    URL: Article
    DOI: 10.3389/fnagi.2023.1119070
    DOI: 10.3389/fnagi.2023.1119070.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2558898-9
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  • 6
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    [P4–078]: APOLIPOROTEIN E POLYMORPHISM IN CHINESE POPULATION WITH VARIOUS TYPES OF COGNITIVE DISORDERS
    Wiley ; 2017
    In:  Alzheimer's & Dementia Vol. 13, No. 7S_Part_27 ( 2017-07)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 13, No. 7S_Part_27 ( 2017-07)
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Article
    DOI: 10.1016/j.jalz.2017.06.1943
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 2201940-6
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  • 7
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    [P1–319]: EFFECTS OF APOLIPOPROTEIN E POLYMORPHISM ON NEUROPSYCHOLOGICAL DOMAINS IN CHINESE POPULATION WITH ALZHEIMER's DISEASE
    Wiley ; 2017
    In:  Alzheimer's & Dementia Vol. 13, No. 7S_Part_7 ( 2017-07)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 13, No. 7S_Part_7 ( 2017-07)
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Article
    DOI: 10.1016/j.jalz.2017.06.335
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 2201940-6
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  • 8
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    Clinical-neuroimaging-pathological relationship analysis of adult onset Neuronal Intranuclear Inclusion Disease (NIID)
    Springer Science and Business Media LLC ; 2022
    In:  BMC Neurology Vol. 22, No. 1 ( 2022-12-15)
    Details
    In: BMC Neurology, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2022-12-15)
    Abstract: Neuronal Intranuclear Inclusion Disease (NIID) is a degenerative disease with heterogeneous clinical manifestations. We aim to analysis the relationship between clinical manifestations, neuroimaging and skin pathology in a Chinese NIID cohort. Methods Patients were recruited from a Chinese cohort. Detail clinical information were collected. Visual rating scale was used for evaluation of neuroimaging. The relationship between clinical presentations and neuroimaging, as well as skin pathology was statistically analyzed. Results Thirty-two patients were recruited. The average onset age was 54.3 y/o. 28.1% had positive family history. Dementia, autonomic nervous system dysfunction, episodic attacks were three main presentations. CSF analysis including Aβ 42 and tau level was almost normal. The most frequently involved on MRI was periventricular white matter (100%), frontal subcortical and deep white matter (96.6%), corpus callosum (93.1%) and external capsule (72.4%). Corticomedullary junction DWI high intensity was found in 87.1% patients. Frontal and external capsule DWI high intensity connected to form a “kite-like” specific image. Severity of dementia was significantly related to leukoencephalopathy ( r  = 0.465, p  = 0.0254), but not cortical atrophy and ventricular enlargement. Grey matter lesions were significantly associated with encephalopathy like attacks ( p  = 0.00077) but not stroke like attacks. The density of intranuclear inclusions in skin biopsy was not associated with disease duration, severity of leukoencephalopathy and dementia. Conclusions Specific distribution of leukoencephalopathy and DWI high intensity were indicative. Leukoencephalopathy and subcortical mechanism were critical in pathogenesis of NIID. Irrelevant of inclusion density and clinical map suggested the direct pathogenic factor need further investigation.
    Type of Medium: Online Resource
    ISSN: 1471-2377
    URL: Article
    DOI: 10.1186/s12883-022-03025-1
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2041347-6
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  • 9
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    Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort
    Springer Science and Business Media LLC ; 2022
    In:  Neurological Sciences Vol. 43, No. 5 ( 2022-05), p. 3255-3263
    Details
    In: Neurological Sciences, Springer Science and Business Media LLC, Vol. 43, No. 5 ( 2022-05), p. 3255-3263
    Type of Medium: Online Resource
    ISSN: 1590-1874 , 1590-3478
    URL: Article
    DOI: 10.1007/s10072-021-05859-y
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1481772-X
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  • 10
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    Distribution of Cortical Atrophy Associated with Cognitive Decline in Alzheimer’s Disease: A Cross-Sectional Quantitative Structural MRI Study from PUMCH Dementia Cohort
    Bentham Science Publishers Ltd. ; 2022
    In:  Current Alzheimer Research Vol. 19, No. 8 ( 2022-07), p. 618-627
    Details
    In: Current Alzheimer Research, Bentham Science Publishers Ltd., Vol. 19, No. 8 ( 2022-07), p. 618-627
    Abstract: Quantitative measures of atrophy on structural MRI are sensitive to the neurodegeneration that occurs in AD, and the topographical pattern of atrophy could serve as a sensitive and specific biomarker. Ojective: We aimed to examine the distribution of cortical atrophy associated with cognitive decline and disease stage based on quantitative structural MRI analysis in a Chinese cohort to inform clinical diagnosis and follow-up of AD patients. Methods: One hundred and eleven patients who were clinically diagnosed with probable AD were enrolled. All patients completed a systemic cognitive evaluation and domain-specific batteries. The severity of cognitive decline was defined by MMSE score: 1-10 severe, 11-20 moderate, 21-30 mild. Cortical volume and thickness determined using 3D-T1 MRI data were analyzed using voxel-based morphometry and surface-based analysis supported by the DR. Brain Platform. Results: The male:female ratio was 38:73. The average age was 70.8±10.6 years. The mild:moderate:severe ratio was 48:38:25. Total grey matter volume was significantly related to cognition while the relationship between white matter volume and cognition did not reach statistical significance. The volume of the temporal-parietal-occipital cortex was most strongly associated with cognitive decline in group analysis, while the hippocampus and entorhinal area had a less significant association with cognitive decline. Volume of subcortical grey matter was also associated with cognition. Volume and thickness of temporoparietal cortexes were significantly correlated with cognitive decline with a left predominance observed. Conclusion: Cognitive deterioration was associated with cortical atrophy. Volume and thickness of the left temporal-parietal-occipital cortex were most important in early diagnosis and longitudinal evaluation of AD in clinical practice. Cognitively relevant cortices were left predominant.
    Type of Medium: Online Resource
    ISSN: 1567-2050
    URL: Article
    DOI: 10.2174/1567205019666220905145756
    Language: English
    Publisher: Bentham Science Publishers Ltd.
    Publication Date: 2022
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