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  • 1
    In: Journal of Magnetic Resonance Imaging, Wiley, Vol. 60, No. 1 ( 2024-07), p. 268-278
    Abstract: White matter (WM) degeneration is a key feature of Alzheimer's disease (AD). However, the underlying mechanism remains unclear. Purpose To investigate how amyloid‐β (Aβ), tau, and small vascular disease (SVD) jointly affect WM degeneration in subjects along AD continuum. Study Type Retrospective. Subjects 152 non‐demented participants (age: 55.8–91.6, male/female: 66/86) from the ADNI database were included, classified into three groups using the A (Aβ)/T (tau)/N pathological scheme (Group 1: A−T−; Group 2: A+T−; Group 3: A+T+) based on positron emission tomography data. Field Strength/Sequence 3T; T1‐weighted images, T2‐weighted fluid‐attenuated inversion recovery images, T2*‐weighted images, diffusion‐weighted spin‐echo echo‐planar imaging sequence (54 diffusion directions). Assessment Free‐water diffusion model (generated parameters: free water, FW; tissue fractional anisotropy, FAt; tissue mean diffusivity, MDt); SVD total score; Neuropsychological tests. Statistical Tests Linear regression analysis was performed to investigate the independent contribution of AD (Aβ and tau) and SVD pathologies to diffusion parameters in each fiber tract, first in the entire population and then in each subgroup. We also investigated associations between diffusion parameters and cognitive functions. The level of statistical significance was set at p  〈  0.05 (false discovery rate corrected). Results In the entire population, we found that: 1) Increased FW was significantly associated with SVD and tau, while FAt and MDt were significantly associated with Aβ and tau; 2) The spatial pattern of fiber tracts related to a certain pathological marker is consistent with the known distribution of that pathology; 3) Subgroup analysis showed that Group 2 and 3 had more alterations of FAt and MDt associated with Aβ and tau; 4) Diffusion imaging indices showed significant associations with cognitive score in all domains except memory. Data Conclusion WM microstructural injury was associated with both AD and SVD pathologies, showing compartment‐specific, tract‐specific, and stage‐specific WM patterns. Evidence Level 1 Technical Efficacy Stage 3
    Type of Medium: Online Resource
    ISSN: 1053-1807 , 1522-2586
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 1146614-5
    detail.hit.zdb_id: 1497154-9
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  • 2
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 12 ( 2021-8-19)
    Abstract: Genetic disorders are a frequent cause of hospitalization, morbidity and mortality in pediatric patients, especially in the neonatal or pediatric intensive care unit (NICU/PICU). In recent years, rapid genome-wide sequencing (exome or whole genome sequencing) has been applied in the NICU/PICU. However, mtDNA sequencing is not routinely available in rapid genetic diagnosis programs, which may fail to diagnose mtDNA mutation-associated diseases. Herein, we explored the clinical utility of rapid exome sequencing combined with mtDNA sequencing in critically ill pediatric patients with suspected genetic disorders. Rapid clinical exome sequencing (CES) was performed as a first-tier test in 40 critically ill pediatric patients (aged from 6 days to 15 years) with suspected genetic conditions. Blood samples were also collected from the parents for trio analysis. Twenty-six patients presented with neuromuscular abnormalities or other systemic abnormalities, suggestive of suspected mitochondrial diseases or the necessity for a differential diagnosis of other diseases, underwent rapid mtDNA sequencing concurrently. A diagnosis was made in 18 patients (45.0%, 18/40); three cases with de novo autosomal dominant variants, ten cases with homozygous or compound heterozygous variants, three cases with hemizygous variants inherited from mother, three cases with heterozygous variants inherited from either parent, and one case with a mtDNA mutation. The 18 patients were diagnosed with metabolic ( n = 7), immunodeficiency ( n = 4), cardiovascular ( n = 2), neuromuscular ( n = 2) disorders, and others. Genetic testing reports were generated with a median time of 5 days (range, 3–9 days). Thirteen patients that were diagnosed had an available medical treatment and resulted in a positive outcome. We propose that rapid exome sequencing combined with mitochondrial DNA sequencing should be available to patients with suspected mitochondrial diseases or undefined clinical features necessary for making a differential diagnosis of other diseases.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2606823-0
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  • 3
    In: Brain Communications, Oxford University Press (OUP), Vol. 6, No. 1 ( 2023-12-28)
    Abstract: The objectively-defined subtle cognitive decline individuals had higher progression rates of cognitive decline and pathological deposition than healthy elderly, indicating a higher risk of progressing to Alzheimer’s disease. However, little is known about the brain functional alterations during this stage. Thus, we aimed to investigate the functional network patterns in objectively-defined subtle cognitive decline cohort. Forty-two cognitive normal, 29 objectively-defined subtle cognitive decline and 55 mild cognitive impairment subjects were included based on neuropsychological measures from the Alzheimer’s disease Neuroimaging Initiative dataset. Thirty cognitive normal, 22 objectively-defined subtle cognitive declines and 48 mild cognitive impairment had longitudinal MRI data. The degree centrality and eigenvector centrality for each participant were calculated by using resting-state functional MRI. For cross-sectional data, analysis of covariance was performed to detect between-group differences in degree centrality and eigenvector centrality after controlling age, sex and education. For longitudinal data, repeated measurement analysis of covariance was used for comparing the alterations during follow-up period among three groups. In order to classify the clinical significance, we correlated degree centrality and eigenvector centrality values to Alzheimer’s disease biomarkers and cognitive function. The results of analysis of covariance showed significant between-group differences in eigenvector centrality and degree centrality in left superior temporal gyrus and left precuneus, respectively. Across groups, the eigenvector centrality value of left superior temporal gyrus was positively related to recognition scores in auditory verbal learning test, whereas the degree centrality value of left precuneus was positively associated with mini-mental state examination total score. For longitudinal data, the results of repeated measurement analysis of covariance indicated objectively-defined subtle cognitive decline group had the highest declined rate of both eigenvector centrality and degree centrality values than other groups. Our study showed an increased brain functional connectivity in objectively-defined subtle cognitive decline individuals at both local and global level, which were associated with Alzheimer’s disease pathology and neuropsychological assessment. Moreover, we also observed a faster declined rate of functional network matrix in objectively-defined subtle cognitive decline individuals during the follow-ups.
    Type of Medium: Online Resource
    ISSN: 2632-1297
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 3020013-1
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  • 4
    In: Physical Review B, American Physical Society (APS), Vol. 102, No. 14 ( 2020-10-15)
    Type of Medium: Online Resource
    ISSN: 2469-9950 , 2469-9969
    RVK:
    Language: English
    Publisher: American Physical Society (APS)
    Publication Date: 2020
    detail.hit.zdb_id: 2844160-6
    detail.hit.zdb_id: 209770-9
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  • 5
    In: Journal of Hydrology, Elsevier BV, Vol. 632 ( 2024-03), p. 130944-
    Type of Medium: Online Resource
    ISSN: 0022-1694
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2024
    detail.hit.zdb_id: 240687-1
    SSG: 13
    SSG: 14
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  • 6
    Online Resource
    Online Resource
    Wiley ; 2022
    In:  Molecular Ecology Resources Vol. 22, No. 4 ( 2022-05), p. 1417-1426
    In: Molecular Ecology Resources, Wiley, Vol. 22, No. 4 ( 2022-05), p. 1417-1426
    Abstract: Polyploidy plays an important role in the evolution of eukaryotes, especially for flowering plants. Many of ecologically or agronomically important plant or crop species are polyploids, including sycamore maple (tetraploid), the world second and third largest food crops wheat (hexaploid) and potato (tetraploid) as well as economically important aquaculture animals such as Atlantic salmon and trout. The next generation sequencing data enables to allocate genotype at a sequence variant site, known as genotyping by sequencing (GBS). GBS has stimulated enormous interests in population based genomics studies in almost all diploid and many polyploid organisms. DNA sequence polymorphisms are codominant and thus fully informative about the underlying genotype at the polymorphic site, making GBS a straightforward task in diploids. However, sequence data may usually be uninformative in polyploid species, making GBS a far more challenging task in polyploids. This paper presents novel and rigorous statistical methods for predicting the number of sequence reads needed to ensure accurate GBS at a polymorphic site bared by the reads in polyploids and shows that a dozen of reads can ensure a probability of 95% to recover all constituent alleles of any tetraploid genotype but several hundreds of reads are needed to accurately uncover the genotype with probability confidence of 90%, subverting the proposition of GBS using low coverage sequence data in the literature. The theoretical prediction was tested by use of RAD‐seq data from tetraploid potato cultivars. The paper provides polyploid experimentalists with theoretical guides and methods for designing and conducting their sequence‐based studies.
    Type of Medium: Online Resource
    ISSN: 1755-098X , 1755-0998
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
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    detail.hit.zdb_id: 2406816-0
    SSG: 12
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  • 7
    In: Journal of Magnetic Resonance Imaging, Wiley
    Abstract: Vascular degeneration is an important cause of brain damage in aging. Assessing the functional properties of the cerebral vascular system may aid early diagnosis and prevention. Purpose To investigate the relationships between potential vascular functional markers and vascular risks, brain parenchymal damage, and cognition. Study Type Retrospective. Subjects Two hundred two general community subjects (42–80 years, males/females: 127/75). Field Strength/Sequence 3 T, spin echo T1W/T2W/FLAIR, resting‐state functional MRI with an echo‐planar sequence (rsfMRI), pseudo‐continuous arterial spin labeling (pCASL) with a three‐dimensional gradient‐spin echo sequence. Assessment Cerebral blood flow (CBF) in gray matter calculated using pCASL, blood transit times calculated using rsfMRI, and the SD of internal carotid arteries signal (ICA std ) calculated using rsfMRI; visual assessment for lacunes; quantification of white matter hyperintensity volume; permutation test for quality control; collection of demographic and clinical data, Montreal Cognitive Assessment, Mini‐Mental State Examination. Statistical Tests Kolmogorov–Smirnov test; Spearman rank correlation analysis; Multivariable linear regression analysis controlling for covariates; The level of statistical significance was set at P   〈  0.05. Results Age was negatively associated with ICA std ( β  = −0.180). Diabetes was associated with longer blood transit time from large arteries to capillary bed ( β  = 0.185, adjusted for age, sex, and intracranial volume). Larger ICA std was associated with less presence of lacunes (odds ratio: 0.418, adjusted for age and sex). Higher gray matter CBF ( β  = 0.154) and larger ICA std ( β  = 0.136) were associated with better MoCA scores (adjusted for age, sex, and education). Data Conclusion Prolonged blood transit time, decreased ICA std , and diminished CBF were associated with vascular dysfunction and cognitive impairment. They may serve as vascular functional markers in future studies. Evidence Level 3 Technical Efficacy Stage 3
    Type of Medium: Online Resource
    ISSN: 1053-1807 , 1522-2586
    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 1146614-5
    detail.hit.zdb_id: 1497154-9
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  • 8
    Online Resource
    Online Resource
    Institute of Electrical and Electronics Engineers (IEEE) ; 2019
    In:  Journal of Lightwave Technology Vol. 37, No. 19 ( 2019-10-1), p. 5158-5158
    In: Journal of Lightwave Technology, Institute of Electrical and Electronics Engineers (IEEE), Vol. 37, No. 19 ( 2019-10-1), p. 5158-5158
    Type of Medium: Online Resource
    ISSN: 0733-8724 , 1558-2213
    Language: Unknown
    Publisher: Institute of Electrical and Electronics Engineers (IEEE)
    Publication Date: 2019
    detail.hit.zdb_id: 2033229-4
    detail.hit.zdb_id: 246121-3
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  • 9
    In: Carbonates and Evaporites, Springer Science and Business Media LLC, Vol. 38, No. 4 ( 2023-12)
    Type of Medium: Online Resource
    ISSN: 0891-2556 , 1878-5212
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1037732-3
    detail.hit.zdb_id: 2533885-7
    SSG: 13
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  • 10
    In: Frontiers in Pharmacology, Frontiers Media SA, Vol. 14 ( 2023-11-17)
    Abstract: Background: Captisol ® -enabled-fosphenytoin sodium (CE-fosphenytoin sodium) injection is a modified formulation of fosphenytoin sodium. Objective: We aim to compare the intravenous and intramuscular bioavailability and safety between CE-fosphenytoin sodium, fosphenytoin sodium (Cerebyx ® ), and phenytoin sodium (intravenous injection only). Methods: In pivotal study 1, 54 subjects were divided into three sequence groups that receive intravenous injection of 250 mg of phenytoin sodium equivalent (PE), CE-fosphenytoin sodium (T), or fosphenytoin sodium (R1) and 250 mg of phenytoin sodium (R2) in period 1. After a 14-day washout period, 36 subjects were randomized to two treatment sequence groups (T-R1 or R1-T, n = 18 per group) in period 2, in which the subjects who received R2 in period 1 were removed, those who received T in period 1 used R1 (T-R1), while those who previously received R1 used T (R1-T). In pivotal study 2, a single intramuscular dose of T (400 mg PE) or R1 (400 mg PE) was administered according to the individual sequential treatment assignment in each period. There was a washout (14 days) period before receiving the next period study drug. Results: T and R1 have similar pharmacokinetic characteristics regarding total and free phenytoin, showing bioequivalence of both drugs in the intravenous and intramuscular administration. The geometric mean ratio was close to 1 (0.98–1.06). The AUC of total and free phenytoin in subjects who intravenously received T and R1 was very similar to those who received R2, although their C max was lower than that of the subjects who received R2. Overall, treatment with T and R1 was safe and well-tolerated, without serious adverse events (SAEs) or grade III adverse events (AEs). With intravenous (i.v.) or intramuscular (i.m.) treatment, the incidence of drug-related AEs using T was similar to that using R1. Treatment with T and R1 had clearly superior tolerability than that with R2. Conclusion: CE-fosphenytoin sodium is a promising substitute for fosphenytoin sodium. Clinical Trial Registration: http://www.chinadrugtrials.org.cn/ , CTR20202154 (11 November 2020).
    Type of Medium: Online Resource
    ISSN: 1663-9812
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2587355-6
    SSG: 15,3
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