Publications by authors named "XinXin Liao"

Metabolic diseases have gradually become one of the most significant global medical burdens. Diseases such as obesity, diabetes, and metabolic syndrome, along with their complications, are clinically categorized as metabolic diseases. Long-term oral medication significantly reduces patient compliance and quality of life.

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  • Postural tremor, often overlooked, can indicate skeletal myopathy and delay diagnoses; a 21-year-old man's case illustrates this with initial hand tremor and subsequent muscle weakness.
  • A muscle biopsy revealed a decrease in type 2A fibers, and whole-exome sequencing found two novel genetic variants confirming the diagnosis.
  • The study emphasizes the need to consider myogenic causes when diagnosing tremors, expanding the understanding of MYH2-associated myopathy and highlighting the importance of detailed clinical assessments and genetic testing.
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Hyperuricemic nephropathy (HN) is renal injury caused by hyperuricemia (HUA). While sleeve gastrectomy (SG) has shown promise in improving renal injury in patients with obesity-related HN, the mechanisms are not fully understood. This study induced an obesity-combined HN model in male ob/ob mice and measured serum uric acid (SUA), creatinine, and other biochemical indicators 6 weeks post-surgery.

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  • Frontotemporal dementia (FTD) is a complex disorder with various genetic and clinical expressions, and this study focused on a large cohort from China to better understand its characteristics.
  • Out of 248 patients studied, nearly 20% had identifiable genetic mutations, with the C9orf72 dynamic mutation being the most common.
  • Elevated levels of certain plasma biomarkers (GFAP, α-syn, NfL, and p-tau181) were found in FTD patients, indicating their potential for improving diagnostic accuracy.
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Lipid droplets (LDs), which are active organelles, derive from the monolayer membrane of the endoplasmic reticulum and encapsulate neutral lipids internally. LD-associated proteins like RAB, those in the PLIN family, and those in the CIDE family participate in LD formation and development, and they are active players in various diseases, organelles, and metabolic processes (i.e.

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Background And Aims: Cancer stem cells (CSCs) contribute to therapy resistance in HCC. Linear ubiquitin chain assembly complex (LUBAC) has been reported to accelerate the progression of cancers, yet its role in the sorafenib response of HCC is poorly defined. Herein, we investigated the impact of LUBAC on sorafenib resistance and the CSC properties of HCC, and explored the potential targeted drugs.

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Background: Progressive supranuclear palsy (PSP) is a clinically heterogenous atypical parkinsonian syndrome. Therefore, early recognition and correct diagnosis of PSP is challenging but essential. This study aims to characterize the clinical manifestations, magnetic resonance imaging (MRI), and longitudinal MRI changes of PSP in China.

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Bio-mechanoreceptors capable of micro-motion sensing have inspired mechanics-guided designs of micro-motion sensors in various fields. However, it remains a major challenge for mechanics-guided designs to simultaneously achieve high sensitivity and broadband sensing due to the nature of resonance effect. By mimicking rat vibrissae, here we report a metamaterial mechanoreceptor (MMR) comprised of piezoelectric resonators with distributed zero effective masses featuring a broad range of local resonances, leading to near-infinite sensitivity for micro-motion sensing within a broad bandwidth.

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Background: This study aimed to investigate the features of autonomic dysfunction (AutD) in a large cohort of patients with neuronal intranuclear inclusion disease (NIID).

Methods: A total of 122 patients with NIID and 122 controls were enrolled. All participants completed the Scales for Outcomes in Parkinson's Disease-Autonomic Questionnaire (SCOPA-AUT) and genetic screening for GGC expanded repeats within the gene.

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  • Previous studies on smoking and Alzheimer's disease (AD) have produced conflicting results, prompting this study to utilize Mendelian randomization (MR) for better clarity.
  • Researchers analyzed genetic variations linked to smoking (cigarettes per day) in a Chinese cohort of 1,000 AD cases and 500 controls, as well as a Japanese cohort of nearly 8,000 participants.
  • The findings indicated that higher genetic predisposition to smoking did not show a causal link to AD risk in either population, suggesting no significant association between smoking and Alzheimer's disease.
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Inadequate osteogenesis and excessive adipogenesis of bone marrow mesenchymal stem cells (BMSCs) are key factors in the pathogenesis of osteoporosis. Patients with Alzheimer's disease (AD) have a higher incidence of osteoporosis than healthy adults, but the underlying mechanism is not clear. Here, we show that brain-derived extracellular vesicles (EVs) from adult AD or wild-type mice can cross the blood-brain barrier to reach the distal bone tissue, while only AD brain-derived EVs (AD-B-EVs) significantly promote the shift of the BMSC differentiation fate from osteogenesis to adipogenesis and induce a bone-fat imbalance.

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African swine fever virus (ASFV) is a large, double-stranded DNA virus that causes a fatal disease in pigs, posing a threat to the global pig industry. Whereas some ASFV proteins have been found to play important roles in ASFV-host interaction, the functional roles of many proteins are still largely unknown. In this study, we identified , an early viral gene in the replication cycle of ASFV, as a key virulence factor.

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Background: Electroencephalogram (EEG) has emerged as a non-invasive tool to detect the aberrant neuronal activity related to different stages of Alzheimer's disease (AD). However, the effectiveness of EEG in the precise diagnosis and assessment of AD and its preclinical stage, amnestic mild cognitive impairment (MCI), has yet to be fully elucidated. In this study, we aimed to identify key EEG biomarkers that are effective in distinguishing patients at the early stage of AD and monitoring the progression of AD.

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Background: The pathogenic missense mutations of the gelsolin () gene lead to familial amyloidosis of the Finnish type (FAF); however, our previous study identified frameshift mutations existed in patients with Alzheimer's disease (AD). The genotype-phenotype heterogeneity and the role of frameshift mutations in patients with AD are unclear.

Method: In total, 1192 patients with AD and 1403 controls were screened through whole genome sequencing, and 884 patients with AD were enrolled for validation.

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Border carbon adjustments (BCAs) are designed to regulate carbon emissions and reduce carbon leakage. Thus far, BCAs are mainly applied to imported carbon-intensive products. On the other hand, harvested wood products (HWPs) are the extension of forest carbon stocks, whose changes affect a country's carbon stock level.

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Objective: Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disease preferentially affects the optic nerve and the spinal cord. The first attack usually occurs in the third or fourth decade, though patients with disease onset in the fifties or later are not uncommon. This study aimed to investigate the clinical characteristics and prognosis in patients with different age of onset and to explore the correlations between age of onset and clinical characteristics and prognostic outcomes.

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Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with aging, environmental, and genetic factors. Amyloid protein precursor () is a known pathogenic gene for familial Alzheimer's disease (FAD), and now more than 70 mutations have been reported, but the genotype-phenotype correlation remains unclear. In this study, we collected clinical data from patients carrying APP mutations defined as pathogenic/likely pathogenic according to the American college of medical genetics and genomics (ACMG) guidelines.

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Aim: The associations of non-pathogenic variants of APP, PSEN1, and PSEN2 with Alzheimer's disease (AD) remain unclear. This study is aimed at determining the role of these variants in AD.

Methods: Our study recruited 1154 AD patients and 2403 controls.

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Background: The Chinese version of the Mini-Mental State Examination (MMSE-C) and the Beijing version of the Montreal Cognitive Assessment (MoCA-BJ) are the most commonly used scales to screen for Alzheimer's disease (AD) among Chinese patients; however, their consistency varies according to populations and languages. Equivalent conversion of MMSE-C and MoCA-BJ scores is important for meta-analysis.

Materials And Methods: MMSE-C and MoCA-BJ scoring were performed on the enrolled patients with AD ( = 332).

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Background: Some previous studies showed abnormal pathological and vascular changes in the retina of patients with Alzheimer's disease (AD). However, whether retinal microvascular density is a diagnostic indicator for AD remains unclear.

Objective: This study evaluated the macular vessel density (m-VD) in the superficial capillary plexus and fovea avascular zone (FAZ) area in AD, explored their correlations with clinical parameters, and finally confirmed an optimal machine learning model for AD diagnosis.

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Aims: We mainly evaluate retinal alterations in Alzheimer's disease (AD) patients, investigate the associations between retinal changes with AD biomarkers, and explore an optimal machine learning (ML) model for AD diagnosis based on retinal thickness.

Methods: A total of 159 AD patients and 299 healthy controls were enrolled. The retinal parameters of each participant were measured using optical coherence tomography (OCT).

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Objectives: CYLD was a novel causative gene for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. Given the clinical and pathological overlap of FTD and Alzheimer's disease (AD), it is necessary to screen CYLD in AD patients and FTD patients in the Chinese population.

Methods: In our study, using a targeted sequencing panel, we sequenced the CYLD gene in a large cohort of 2485 participants in the Chinese population, including 1008 AD patients, 105 FTD patients, and 1372 controls.

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The relationships between multiple visual rating scales based on structural magnetic resonance imaging (sMRI) with disease severity and cerebrospinal fluid (CSF) biomarkers in patients with Alzheimer's disease (AD) were ambiguous. In this study, a total of 438 patients with clinically diagnosed AD were recruited. All participants underwent brain sMRI scan, and medial temporal lobe atrophy (MTA), posterior atrophy (PA), global cerebral atrophy-frontal sub-scale (GCA-F), and Fazekas rating scores were visually evaluated.

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African swine fever virus (ASFV) represents a serious threat to the global swine industry, and there are no safe or commercially available vaccines. Previous studies have demonstrated that inactivated vaccines do not provide sufficient protection against ASFV and that attenuated vaccines are effective, but raise safety concerns. Here, we first constructed a deletion mutant in which and gene clusters were knocked out.

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Background: Genetics plays an important role in progressive supranuclear palsy (PSP) and remains poorly understood. A detailed literature search identified 19 PSP-associated genes: MAPT, LRRK2, LRP10, DCTN1, GRN, NPC1, PARK, TARDBP, TBK1, BSN, GBA, STX6, EIF2AK3, MOBP, DUSP10, SLCO1A2, RUNX2, CXCR4, and APOE. To date, genetic studies on PSP have focused on Caucasian population.

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