Publications by authors named "Ruonan Duan"

Article Synopsis
  • Lafora disease (LD) is a serious genetic disorder leading to seizures, myoclonus, behavioral changes, and eventual dementia, caused primarily by mutations in the EPM2A and NHLRC1 genes.
  • This study focuses on a patient with LD and identifies specific intronic mutations in EPM2A that impact mRNA splicing, leading to the disease's symptoms.
  • The research highlights the importance of genetic testing in diagnosing LD and expands the understanding of how certain mutations in non-coding regions can contribute to the condition.
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During the COVID-19 pandemic, the online delivery model became the primary mode of education. With multiple pressures on society and families, mental health issues for parents have become particularly pronounced. Most of the current research has focused on the psychological state of education practitioners and children, with little attention to parents' mental health issues.

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Suppressor of Mek1 (Smek1) is a regulatory subunit of protein phosphatase 4. Genome-wide association studies have shown the protective effect of SMEK1 in Alzheimer's disease (AD). However, the physiological and pathological roles of Smek1 in AD and other tauopathies are largely unclear.

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Objective: Parkinson's disease (PD) is the second most common neurodegenerative disease in the world, and type 2 diabetes (T2DM) and PD are influenced by common genetic and environmental factors. Mitochondrial dysfunction and inflammation are common pathogenic mechanisms of both diseases. However, the close association between PD and T2DM and the specific relationship between them are not yet clear.

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Neurodegenerative diseases, characterized by abnormal deposition of misfolded proteins, often present with progressive loss of neurons. Chronic neuroinflammation is a striking hallmark of neurodegeneration. Microglia, as the primary immune cells in the brain, is the main type of cells that participate in the formation of inflammatory microenvironment.

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Alzheimer's disease (AD) is an age-related progressive neurodegenerative disorder characterized by aberrant amyloid precursor protein (APP) cleavage, pathological aggregations of beta-amyloid (Aβ) that make up Aβ plaques and hyperphosphorylation of Tau that makes up neurofibrillary tangles (NFTs). Although progress has been made in research on AD, the fundamental causes of this disease have not been fully elucidated. Recent studies have shown that vascular dysfunction especially the loss of pericytes plays a significant role in the onset of AD.

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Neuroinflammation is crucial in the onset and progression of dopaminergic neuron loss in Parkinson's disease (PD). We aimed to determine whether 3-N-Butylphthalide (NBP) can protect against PD by inhibiting the cyclic GMP-AMP synthase (cGAS)stimulator of interferon genes (STING) pathway and the inflammatory response of microglia. MitoSOX/MitoTracker/Hoechst staining was used to detect the levels of mitochondrial reactive oxygen species (ROS) in BV2 cells.

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Anti-DNER antibody is associated with paraneoplastic cerebellar degeneration (PCD) and Hodgkin's disease (HD). However, recent studies reported cases absence of HD and that non-tumor anti-DNER antibody-associated ataxia was not well characterized. We present a case of acute cerebellar ataxia and nystagmus with detected anti-DNER antibody.

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The "hot cross bun" sign (HCBs) is a cruciform hyperintensity on T2-weighted imaging within the pons initially found in patients diagnosed as multiple system atrophy. However, recent findings have broadened the disease spectrum presented with HCBs. Here is a case report at an academic medical center.

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Nowadays, strained quantum structures have been widely used in various light-emitting devices with a variety of compounds for progressive applications. However, the lattice-mismatch-induced strains in the materials would cause a problem of polarization dependence for polarization-independent optical applications. To address this issue, in this paper we propose a novel ultra-broadband depolarization mechanism and approach based on a directly-coupled well-wire-hybrid nanostructure.

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Article Synopsis
  • Alpha-synuclein copy number variations (CNV) are linked to both familial and sporadic cases of Parkinson's disease (PD), with specific cases identified through whole-exome sequencing.
  • Three cases of PD with duplications were documented, revealing de novo CNV regions in one patient and a larger repeated region in two familial cases.
  • The study found that aggressive behavior and cognitive decline were more pronounced in patients with CNV, while younger onset was observed in offspring compared to parents, highlighting important implications for diagnosis and genetic counseling in PD.
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Methylglyoxal (MGO) is a highly reactive metabolite generated by glycolysis. Although abnormal accumulation of MGO has been reported in several autoimmune diseases such as multiple sclerosis and rheumatoid arthritis, the role of MGO in autoimmune diseases has not yet been fully investigated. In this study, we found that the intracellular MGO levels increased in activated immune cells, such as microglia and lymphocytes.

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Objective: To investigate the prospective association between sugar-sweetened beverage intakes and age at menarche among Chinese girls.

Methods: Based on China Health and Nutrition Survey(CHNS) from 2004 to 2015, 293 girls aged 7-16 years with both data on sugar-sweetened beverage intake 1-5 years before menarche and age of menarche were included in the present study. Multivariate linear regression analysis and Logistic regression analysis were used to explore the influence of the sugar-sweetened beverage consumption on menarcheal age of Chinese girls.

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Background: Given the variable nature of clinical manifestations, neuronal intranuclear inclusion disease (NIID) is regarded as a heterogeneous disease which is challenging to diagnose early. To the present, progressive supranuclear palsy (PSP)-like symptoms have never been listed in the performance of NIID.

Case Presentation: A 58-year-old man presented with progressive Parkinsonism and postural instability for 3 years.

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Background: Diet quality in early childhood has a long-term impact on health outcomes. However, there are scarce dietary indexes for Chinese preschool children, and the existing indexes had limited validity and reliability. This study thus aimed to develop a dietary index for preschool children based on the Chinese Dietary Guideline and Chinese Dietary Reference Intakes and to assess their overall diet quality using the China Health and Nutrition Survey (CHNS).

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It is always a challenge how to overcome speckle noise interference in the phase reconstruction for coherent digital holography (CDH) and its application, as this issue has not been solved well so far. In this paper, we are proposing an enhanced anti-speckle deep neural unwrapping network (E-ASDNUN) approach to achieve high quality of absolute phase reconstruction for CDH. The method designs a special network-based noise filter and embeds it into a deep neural unwrapping network to enhance anti-noise capacity in the image feature recognition and extraction process.

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Metal/metal oxide catalysts reveal unique CO adsorption and hydrogenation properties in CO electroreduction for the synthesis of chemical fuels. The dispersion of active components on the surface of metal oxide has unique quantum effects, significantly affecting the catalytic activity and selectivity. Catalyst models with 25, 50, and 75% Ag covering on ZrO, denoted as Ag/(ZrO), Ag/(ZrO), and Ag/(ZrO), respectively, were developed and coupled with a detailed investigation of the electronic properties and electroreduction processes from CO into different chemical fuels using density functional theory calculations.

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Objective: Parkinson's disease (PD) is the second most common neurodegenerative disorder worldwide. Mitochondrial dysfunction is suspected as one of the pathogenic mechanisms of PD. Growth/differentiation Factor-15 (GDF15) has been reported to affect mitochondrial function in PD.

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This study aimed to assess the relative validity of the diet photograph record (DP) for measuring the energy and nutrient intakes against the weighed dietary record (WD) and the 24 h dietary recall (HR) in the Chinese preschoolers. In this study, 40 preschool children aged 4-6 years and their parents were recruited from a kindergarten in southwest China. Dietary intake of the preschoolers on a same day, as estimated by the DP and the HR were compared with the WD.

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The importance of diet quality on children's growth is being increasingly recognized. The Chinese Adolescent Cohort (CAC) is a longitudinal cohort study to comprehensively investigate the health impacts of nutritional factors on child growth. From 2013 to 2018, 6,967 children aged 6-8 years have been recruited from 23 primary schools in Sichuan, Guizhou, and Chongqing, which have been planned to be followed up annually until their age of 15 years.

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Background: Primary familial brain calcification (PFBC) is a neurodegenerative disease characterized with calcium deposition in multiple brain regions. Mutations in PDGFB have been discovered in sporadic and familial PFBC cases. While several known variants displayed loss-of function, no complete deletion of platelet-derived growth factor B (PDGFB) has been reported.

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WDFY4 (WD repeat and FYVE domain-containing 4) is a susceptibility gene involved in several autoimmune diseases and plays an important role in the immune system. However, it is not clear how WDFY4 affects T cells. We have generated a Wdfy4-knockout mouse and found that selective deficiency of Wdfy4 in T cells led to a reduction in the number of CD8 T cells in the periphery, thus promoting tumor growth when mice were challenged with a transplantable tumor.

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