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Article: Bayesian genome-wide TWAS with reference transcriptomic data of brain and blood tissues identified 93 risk genes for Alzheimer's disease dementia.

Guo, Shuyi / Yang, Jingjing

medRxiv : the preprint server for health sciences

2023

Abstract: Background: Transcriptome-wide association study (TWAS) is an influential tool for identifying novel genes associated with complex diseases, where their genetic effects may be mediated through transcriptome. TWAS utilizes reference genetic and ... ...

Abstract	Background: Transcriptome-wide association study (TWAS) is an influential tool for identifying novel genes associated with complex diseases, where their genetic effects may be mediated through transcriptome. TWAS utilizes reference genetic and transcriptomic data to estimate genetic effect sizes on expression quantitative traits of target genes (i.e., effect sizes of a broad sense of expression quantitative trait loci, eQTL). These estimated effect sizes are then employed as variant weights in burden gene-based association test statistics, facilitating the mapping of risk genes for complex diseases with genome-wide association study (GWAS) data. However, most existing TWAS of Alzheimer's disease (AD) dementia have primarily focused on Methods: We first applied BGW-TWAS to the Genotype-Tissue Expression (GTEx) V8 dataset to estimate Results: We identified 37 genes in prefrontal cortex, 55 in cortex, and 51 in whole blood that were significantly associated with AD dementia. By combining BGW-TWAS p-values across these three tissues, we obtained 93 significant risk genes including 29 genes primarily due to Conclusion: We applied BGW-TWAS and aggregated Cauchy test methods to integrate both
Language	English
Publishing date	2023-07-12
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.07.06.23292336
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Article ; Online: Progressive familial intrahepatic cholestasis type 3

Guo Shuyi, Ou Rongqiong, Zhou Dunhua, Zhang Bihong, Wang Haiyan, Tan Weiping

Xin yixue, Vol 53, Iss 7, Pp 503-

a case report and literature review

2022 Volume 509

Abstract: ObjectiveTo investigate the clinical and genetic characteristics of progressive familial intrahepatic cholestasis type 3 （PFIC3）. Methods One case of PFIC3 was reported. Using the keywords of “child”and “progressive familial intrahepatic cholestasis type ...

Abstract	ObjectiveTo investigate the clinical and genetic characteristics of progressive familial intrahepatic cholestasis type 3 （PFIC3）. Methods One case of PFIC3 was reported. Using the keywords of “child”and “progressive familial intrahepatic cholestasis type 3” in English and Chinese, literature review was conducted from PubMed, SinoMed, CNKI, Wanfang Data and Chongqing VIP databases. Clinical data of PFIC3 children were collected and analyzed. Results The patient was a one-year-old boy presenting with cholestatic hepatitis as the main clinical manifestation. Next-generation sequencing revealed a homozygous missense mutation of ATP-blinding cassette, sub-family B, member 4 （ABCB4） gene as c.3230C > T （p.T1077M）, which was inherited from his parents. Using a variety of bioinformatic software, the novel mutation was predicted to be pathogenic. A total of 11 children with PFIC3 were collected. Part of them received drug treatment and the other children underwent liver transplantation. Those undergoing liver transplantation were almost recovered. Conclusions PFIC3 is relatively rare in clinical practice, which is clinically characterized by progressive intrahepatic cholestasis. PFIC3 children constantly die from liver failure during childhood or adolescence. The diagnosis of PFIC3 depends on genetic testing. Liver transplantation is the only option. The gene mutation site of this case expands the ABCB4 gene mutation spectrum and may contribute to the diagnosis of PFIC3.
Keywords	\|progressive familial intrahepatic cholestasis\|child\|abcb4 gene\|gene mutation ; Medicine ; R
Subject code	610
Language	Chinese
Publishing date	2022-07-01T00:00:00Z
Publisher	Editorial Office of Journal of New Medicine
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The association between neighborhood-level social fragmentation and distressing psychotic-like experiences in early adolescence: the moderating role of close friends.

Ku, Benson S / Ren, Jiyuan / Compton, Michael T / Druss, Benjamin G / Guo, Shuyi / Walker, Elaine F

Psychological medicine

2024 , Page(s) 1–9

Abstract: Background: Early exposure to neighborhood social fragmentation has been shown to be associated with schizophrenia. The impact of social fragmentation and friendships on distressing psychotic-like experiences (PLE) remains unknown. We investigate the ... ...

Abstract	Background: Early exposure to neighborhood social fragmentation has been shown to be associated with schizophrenia. The impact of social fragmentation and friendships on distressing psychotic-like experiences (PLE) remains unknown. We investigate the relationships between neighborhood social fragmentation, number of friends, and distressing PLE among early adolescents. Methods: Data were collected from the Adolescent Brain Cognitive Development Study. Generalized linear mixed models tested associations between social fragmentation and distressing PLE, as well as the moderating role of the number of total and close friends. Results: Participants included 11 133 adolescents aged 9 to 10, with 52.3% being males. Greater neighborhood social fragmentation was associated with higher levels of distressing PLE (adjusted Conclusions: Greater neighborhood social fragmentation is associated with higher levels of distressing PLE, particularly among those with fewer close friends. Further research is needed to disentangle aspects of the interaction between neighborhood characteristics and the quality of social interactions that may contribute to psychosis, which would have implications for developing effective interventions at the individual and community levels.
Language	English
Publishing date	2024-02-16
Publishing country	England
Document type	Journal Article
ZDB-ID	217420-0
ISSN	1469-8978 ; 0033-2917
ISSN (online)	1469-8978
ISSN	0033-2917
DOI	10.1017/S0033291724000278
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Article ; Online: Computation-Driven Rational Design of Self-Assembled Short Peptides for Catalytic Hydrogen Production.

Yang, Yuqin / Wang, Xiaoyu / Wu, Xialian / Guo, Shuyi / Yang, Haokun / Lu, Junxia / Dong, Hao

Journal of the American Chemical Society

2024 Volume 146, Issue 19, Page(s) 13488–13498

Abstract: Self-assembling peptides represent a captivating area of study in nanotechnology and biomaterials. This interest is largely driven by their unique properties and the vast application potential across various fields such as catalytic functions. However, ... ...

Abstract	Self-assembling peptides represent a captivating area of study in nanotechnology and biomaterials. This interest is largely driven by their unique properties and the vast application potential across various fields such as catalytic functions. However, design complexities, including high-dimensional sequence space and structural diversity, pose significant challenges in the study of such systems. In this work, we explored the possibility of self-assembled peptides to catalyze the hydrolysis of hydrosilane for hydrogen production using
MeSH term(s)	Hydrogen/chemistry ; Catalysis ; Peptides/chemistry ; Models, Molecular ; Hydrolysis
Language	English
Publishing date	2024-05-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	3155-0
ISSN	1520-5126 ; 0002-7863
ISSN (online)	1520-5126
ISSN	0002-7863
DOI	10.1021/jacs.4c02942
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Article ; Online: A convenient and stable graph-based pressure estimation methodology for water distribution networks: Development and field validation.

Zhou, Xiao / Zhang, Juan / Guo, Shuyi / Liu, Shuming / Xin, Kunlun

Water research

2023 Volume 233, Page(s) 119747

Abstract: Accurate estimation of unknown nodal pressures (nodal heads) is necessary for efficient operation and management of water distribution networks (WDNs), but existing methods such as hydraulic simulation and data interpolation can hardly reconcile ... ...

Abstract	Accurate estimation of unknown nodal pressures (nodal heads) is necessary for efficient operation and management of water distribution networks (WDNs), but existing methods such as hydraulic simulation and data interpolation can hardly reconcile estimation accuracy with model construction and maintenance costs. Recent developments in graph signal processing (GSP) techniques provide us with new tools to utilize information in WDN hydraulics and available measurements. In a pilot study, a graph-based head reconstruction (GHR) method was proposed, which used GSP to reconstruct the spatially slow-varying parts of nodal heads from a limited number of field measurements to approximate original heads. GHR has illustrated the effectiveness and ease of implementation of GSP-based methods. However, due to the ill-conditioning reconstruction process and inherent uncertainties, GHR may show unstable results with large errors if pressure meters are not installed at specific optimized locations, which limits its applicability. To solve this problem and discover a stable and convenient method that can support a wider range of applications, a graph-based head reconstruction method with improved stability (GHR-S) is proposed. GHR-S utilizes a rough estimation of unknown pressures as pseudo measurements, which provide additional constraints and avoid the occurrence of unreasonable results during the reconstruction process. A middle-sized network with synthetic data illustrates the stability, convenience, and accuracy of GHR-S with arbitrary meter locations and uncalibrated model parameters. GHR-S is also applied to a large real-life network with field measurements, and successfully estimates the unknown pressures of 83,000 nodes with only 58 measurements, showing its effectiveness in practical engineering.
MeSH term(s)	Water ; Pilot Projects ; Computer Simulation ; Uncertainty ; Water Supply
Chemical Substances	Water (059QF0KO0R)
Language	English
Publishing date	2023-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	202613-2
ISSN	1879-2448 ; 0043-1354
ISSN (online)	1879-2448
ISSN	0043-1354
DOI	10.1016/j.watres.2023.119747
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Article ; Online: Management of an Extensive Intraparotid and Auricular Arteriovenous Malformation.

Yee, Sze Ying / Guo, Shuyi / Ho, Chi Long

The American journal of case reports

2022 Volume 23, Page(s) e935337

Abstract: BACKGROUND Extracranial arteriovenous malformations (AVMs) of the parotid gland and auricle are rarely encountered. Management of these AVMs depends on the Schobinger stage and their flow characteristics. We present a rare case of an AVM involving the ... ...

Abstract	BACKGROUND Extracranial arteriovenous malformations (AVMs) of the parotid gland and auricle are rarely encountered. Management of these AVMs depends on the Schobinger stage and their flow characteristics. We present a rare case of an AVM involving the parotid and auricle concurrently. The clinical and imaging features of these high-flow vascular malformations and their treatment options are discussed and we provide a review of the literature. CASE REPORT A 40-year-old woman presented with a large 6.4×6.0×13.0 cm high-flow Schobinger stage II high-flow AVM of the parotid gland and auricle. Diagnostic imaging included magnetic resonance imaging (MRI) and conventional catheter angiogram, which defined the vascular anatomy and flow characteristics of the AVM. She was treated with preoperative endovascular embolization followed by surgical excision and free-tissue transfer reconstruction on the next day. The results were excellent, with no recurrence over 3.5 years of follow-up. CONCLUSIONS This is the second case reported in the literature of high-flow AVM concurrently involving the parotid gland and auricle, treated with perioperative embolization followed by surgical excision and grafting. Management of AVMs requires a multidisciplinary team approach and understanding of the natural history of the lesion. Although total surgical resection is the criterion standard for these AVMs, endovascular embolization is an alternative treatment that can be used as an adjunct to surgery. Furthermore, perioperative embolization can decrease the vascularity of the lesion and effectively reduce blood loss during AVM surgery.
MeSH term(s)	Adult ; Angiography ; Arteriovenous Malformations/diagnostic imaging ; Arteriovenous Malformations/therapy ; Ear Auricle ; Embolization, Therapeutic/methods ; Female ; Humans ; Vascular Malformations
Language	English
Publishing date	2022-04-04
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2517183-5
ISSN	1941-5923 ; 1941-5923
ISSN (online)	1941-5923
ISSN	1941-5923
DOI	10.12659/AJCR.935337
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Article ; Online: A convenient and stable graph-based pressure estimation methodology for water distribution networks: Development and field validation

Zhou, Xiao / Zhang, Juan / Guo, Shuyi / Liu, Shuming / Xin, Kunlun

Water Research. 2023 Apr., v. 233 p.119747-

2023

Abstract	Accurate estimation of unknown nodal pressures (nodal heads) is necessary for efficient operation and management of water distribution networks (WDNs), but existing methods such as hydraulic simulation and data interpolation can hardly reconcile estimation accuracy with model construction and maintenance costs. Recent developments in graph signal processing (GSP) techniques provide us with new tools to utilize information in WDN hydraulics and available measurements. In a pilot study, a graph-based head reconstruction (GHR) method was proposed, which used GSP to reconstruct the spatially slow-varying parts of nodal heads from a limited number of field measurements to approximate original heads. GHR has illustrated the effectiveness and ease of implementation of GSP-based methods. However, due to the ill-conditioning reconstruction process and inherent uncertainties, GHR may show unstable results with large errors if pressure meters are not installed at specific optimized locations, which limits its applicability. To solve this problem and discover a stable and convenient method that can support a wider range of applications, a graph-based head reconstruction method with improved stability (GHR-S) is proposed. GHR-S utilizes a rough estimation of unknown pressures as pseudo measurements, which provide additional constraints and avoid the occurrence of unreasonable results during the reconstruction process. A middle-sized network with synthetic data illustrates the stability, convenience, and accuracy of GHR-S with arbitrary meter locations and uncalibrated model parameters. GHR-S is also applied to a large real-life network with field measurements, and successfully estimates the unknown pressures of 83,000 nodes with only 58 measurements, showing its effectiveness in practical engineering.
Keywords	fluid mechanics ; head ; research ; water ; water distribution ; Data estimation ; Graph signal processing ; Hydraulic model ; Nodal pressure ; Water distribution network
Language	English
Dates of publication	2023-04
Publishing place	Elsevier Ltd
Document type	Article ; Online
ZDB-ID	202613-2
ISSN	1879-2448 ; 0043-1354
ISSN (online)	1879-2448
ISSN	0043-1354
DOI	10.1016/j.watres.2023.119747
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Article ; Online: Research on Mask-Wearing Detection Algorithm Based on Improved YOLOv5.

Guo, Shuyi / Li, Lulu / Guo, Tianyou / Cao, Yunyu / Li, Yinlei

Sensors (Basel, Switzerland)

2022 Volume 22, Issue 13

Abstract: COVID-19 is highly contagious, and proper wearing of a mask can hinder the spread of the virus. However, complex factors in natural scenes, including occlusion, dense, and small-scale targets, frequently lead to target misdetection and missed detection. ... ...

Abstract	COVID-19 is highly contagious, and proper wearing of a mask can hinder the spread of the virus. However, complex factors in natural scenes, including occlusion, dense, and small-scale targets, frequently lead to target misdetection and missed detection. To address these issues, this paper proposes a YOLOv5-based mask-wearing detection algorithm, YOLOv5-CBD. Firstly, the Coordinate Attention mechanism is introduced into the feature fusion process to stress critical features and decrease the impact of redundant features after feature fusion. Then, the original feature pyramid network module in the feature fusion module was replaced with a weighted bidirectional feature pyramid network to achieve efficient bidirectional cross-scale connectivity and weighted feature fusion. Finally, we combined Distance Intersection over Union with Non-Maximum Suppression to improve the missed detection of overlapping targets. Experiments show that the average detection accuracy of the YOLOv5-CBD model is 96.7%-an improvement of 2.1% compared to the baseline model (YOLOv5).
MeSH term(s)	Algorithms ; COVID-19/diagnosis ; Humans
Language	English
Publishing date	2022-06-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2052857-7
ISSN	1424-8220 ; 1424-8220
ISSN (online)	1424-8220
ISSN	1424-8220
DOI	10.3390/s22134933
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Article: The Willingness of the Elderly to Choose Nursing Care: Evidence From in China.

Wang, Chengcheng / Zhang, Fanyu / Pan, Chao / Guo, Shuyi / Gong, Xianghong / Yang, Dong

Frontiers in psychology

2022 Volume 13, Page(s) 865276

Abstract: With the accelerating aging of the population and the worsening psychological conditions of older people, the traditional mode of family support for the elderly in China does not always meet the physical and psychological needs of the elderly, and more ... ...

Abstract	With the accelerating aging of the population and the worsening psychological conditions of older people, the traditional mode of family support for the elderly in China does not always meet the physical and psychological needs of the elderly, and more social support modes for the elderly are needed. Based on 3,513 valid questionnaires on the long-term care and protection needs of Chinese residents, this paper uses a logit regression model to analyze the factors influencing the willingness of the elderly to choose nursing care. The results show that intergenerational family support for the elderly is a significant psychological driver on the willingness of the elderly to choose nursing care. Compared with the elderly living with family, empty nesters or older people living alone are more inclined to select nursing care when they have difficulties taking care of themselves. The physical health of the elderly affects their willingness to choose nursing care, and elderly individuals with more hospitalizations are less likely to select nursing care. In addition, elderly females who are relatively young, have a high level of education, have a high income, have a nursing home near the residence, and are already covered by medical insurance are more willing to choose nursing care. The results of this study are of great importance for improving the medical services and aging care services for the elderly and providing theoretical support for alleviating the psychological and social pressure brought by population aging.
Language	English
Publishing date	2022-03-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2563826-9
ISSN	1664-1078
ISSN	1664-1078
DOI	10.3389/fpsyg.2022.865276
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Article ; Online: Maintaining the long-term accuracy of water distribution models with data assimilation methods: A comparative study.

Zhou, Xiao / Guo, Shuyi / Xin, Kunlun / Xu, Weirong / Tao, Tao / Yan, Hexiang

Water research

2022 Volume 226, Page(s) 119268

Abstract: The upgrading of water supply services is calling for more accurate and adaptive numerical models to give insight into actual water distribution systems (WDSs), which underlines the importance of carefully calibrating model parameters. Due to unavoidable ...

Abstract	The upgrading of water supply services is calling for more accurate and adaptive numerical models to give insight into actual water distribution systems (WDSs), which underlines the importance of carefully calibrating model parameters. Due to unavoidable uncertainties in the calibration process such as measurement errors, errors in model parameters assumed to be known, and local-optimum of calibration algorithms, calibrated parameters could still contain non-negligible latent errors, and the calibrated model may not able to maintain its long-term accuracy when operating conditions change. To solve this problem, there is growing interest in adopting data assimilation (DA) methods to utilize more comprehensive information in long-term measurements to reduce the impact of uncertainties and maintain the accuracy and stability of calibrated models. In this study, two traditional calibration methods and four DA methods were tested and compared in two WDSs with different structures, which aims to form a general understanding of the behavior and applicability of different methods. The calibration results show that DA methods perform better than traditional methods and are more robust to different types of uncertainties, which provide an effective way to maintain the long-term accuracy of WDS models to enable better management of WDSs. Ensemble-based DA methods such as Particle Filter (PF) and Inferential-Measurement Kalman Filter (IMKF) performed well in the real-life system. They avoid linear approximation and can better estimate the impact of uncertainties to assimilate accurate correction information of the parameters. Gradient-based DA methods such as Extended Kalman Filter (EKF) and Variational Bayesian Adaptive Kalman Filter (VBAKF) have lower computational demand, but they are found to be less robust when dealing with large system uncertainties and nonlinearities.
MeSH term(s)	Bayes Theorem ; Water ; Algorithms ; Calibration ; Uncertainty
Chemical Substances	Water (059QF0KO0R)
Language	English
Publishing date	2022-10-17
Publishing country	England
Document type	Journal Article
ZDB-ID	202613-2
ISSN	1879-2448 ; 0043-1354
ISSN (online)	1879-2448
ISSN	0043-1354
DOI	10.1016/j.watres.2022.119268
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