Introduction: This study aims to evaluate the effects of sodium-glucose cotransporter 1 inhibitors (SGLT1i) and sodium-glucose cotransporter 2 inhibitors (SGLT2i) on neurodegenerative disorders and to investigate the role of hemoglobin A1c (HbA1c) levels.
Methods: Utilizing drug target Mendelian randomization, we employed single nucleotide polymorphisms (SNPs) proximal to the SLC5A1 and SLC5A2 genes to analyze the influence of SGLT1i and SGLT2i on Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis (MS), frontotemporal dementia (FTD), Lewy body dementia (LBD), and amyotrophic lateral sclerosis (ALS), with type 2 diabetes (T2D) as a positive control. An additional analysis examined the impact of HbA1c levels on the same disorders.
Rationale: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and elucidate potential genotype-phenotype associations to inform management.
View Article and Find Full Text PDFAlzheimer's disease (AD) is a neurodegenerative disease with high incidence and widespread attention. There is currently no clear clarification of the pathogenesis. However, ORMDL3 causes ferroptosis in AD, and the potential mechanisms remain unclear.
View Article and Find Full Text PDFIntroduction: The medulla oblongata is the lowest segment of the brain stem, located adjacent to the spinal cord, with a complex anatomical structure. Thus, a small injury to the medulla oblongata can show complex clinical manifestations.
Case Presentation: A patient experienced dysesthesia, which manifested as numbness in her right lower limb and decreased temperature sense, and dizziness 20 days before admission.
Objective: To investigate the relationship between 5-hydroxytryptamine transporter gene promoter region () gene polymorphism and post-stroke depression (PSD).
Methods: We searched the CNKI, China Science and Technology Journal, China WanFang, PubMed, Embase, and Web of Science databases for studies of the relationship between polymorphism and PSD. Data were evaluated using Stata software.
Objective: Many studies have shown that the C1562T polymorphism in the matrix metalloproteinase (MMP)-9 gene promoter is associated with susceptibility to ischemic stroke (IS), but the association between them remains controversial. Our objective was to explore the relationship between C1562T polymorphism and susceptibility to IS in the Chinese population.
Methods: We conducted a database search of Wanfang, China Science and Technology Journal database, China National Knowledge Infrastructure, Medline, Embase, PubMed and Springerlink through September 2019.
Activin A, a member of the transforming growth factor-beta superfamily, plays a neuroprotective role in multiple neurological diseases. Endoplasmic reticulum (ER) stress-mediated apoptotic and autophagic cell death is implicated in a wide range of diseases, including cerebral ischemia and neurodegenerative diseases. Thapsigargin was used to induce PC12 cell death, and Activin A was used for intervention.
View Article and Find Full Text PDFActivin A (Act A), a member of the transforming growth factor-beta (TGF-β), reduces neuronal apoptosis during cerebral ischemia through Act A/Smads signaling pathway. However, little is known about the effect of Act A/Smads pathway on autophagy in neurons. Here, we found that oxygen-glucose deprivation (OGD)-induced autophagy was suppressed by exogenous Act A in a concentration-dependent manner and enhanced by Act A/Smads pathway inhibitor (ActRIIA-Ab) in neuronal PC12 cells.
View Article and Find Full Text PDFWe report a PS1 gene mutation (Val 97Leu) in a Chinese familial Alzheimer's disease (FAD) pedigree and a cell model of FAD built by transfecting PS1 v97L mutants into human neuroblastoma SH-SY5Y cells. To test our hypothesis that the PS1 v97L mutation is pathogenic, we investigated possible alterations in transport regulation and intracellular Ca(2+) homeostasis in endoplasmic reticulum (ER). Grp78 is an ER-resident chaperone mediating the unfolded protein response (UPR) and is a key regulator of ER stress transducers.
View Article and Find Full Text PDFActivin A (Act A), a member of transforming growth factor-β superfamily, plays a neuroprotective role in multiple neurological diseases through Act A/Smads signal activation. Traditionally, the up-regulation of Act A gene and extracellular Act A accumulation show the signal activation as a linear pathway. However, one of our discoveries indicated that Act A could lead a loop signaling in ischemic injury.
View Article and Find Full Text PDFThe Rho/Rho-kinase signaling pathway plays an important role in cerebral ischemia/reperfusion injury. However, very few studies have examined in detail the changes in the Rho/Rho-kinase signaling pathway in chronic cerebral ischemia. In this study, rat models of chronic cerebral ischemia were established by permanent bilateral common carotid artery occlusion and intragastrically administered 9 mg/kg fasudil, a powerful ROCK inhibitor, for 9 weeks.
View Article and Find Full Text PDFUnlabelled: We described a 35 year-old female who developed organophosphate induced delayed neuropathy (OPIDN) with an unusal clinical manifestation and neuroradiological presentation.
Case Report: A 35-year-old woman came into contact with organophosphate pesticide by remissly inhalation. She got transient unconsciousness lasting for nearly 2 hours and developed transient hematuria and hyperhidrotic subsequently.
Objectives: The ABCD2 score has been commonly used to triage patients with transient ischemic attack (TIA) who are at high risk for imminent stroke. However, its accuracy in predicting short-term stroke risk among TIA patients in China remains unclear.
Methods: All eligible studies published up to May 2014 were identified by searching Medline, PubMed, Embase, the China Knowledge Resource Integrated Database (CNKI) and the China Biological Medicine Database (CBM-disc), as well as unpublished articles manually scanned.
Objective: To evaluate the effectiveness and safety of warfarin and anti-platelet drugs as the primary approach to the prevention of stroke in patients with non-valvular atrial fibrillation (NVAF).
Methods: Three English databases (the Cochrane library, Embase, and Medline), and three Chinese databases (the Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, and Chinese Periodical Full-text Database of Science and Technology) were searched to select potentially eligible studies published before May, 2014. The studies were randomized controlled trials (RCTs) that investigated the effectiveness and safety of using warfarin and anti-platelet drugs in preventing stroke in NVAF patients; The statistical analysis was performed using the Review Manager 5.
Background: Several studies have assessed the effects of computer-based cognitive programs (CCP) in the management of age-related cognitive decline, but the role of CCP remains controversial. Therefore, this systematic review evaluated the evidence on the efficacy of CCP for age-related cognitive decline in healthy older adults.
Methods: Six electronic databases (through October 2014) were searched.
Background And Purpose: Data on the association between PDE4D SNP 87 and the risk of ischemic stroke are contentious and debatable. The present meta-analysis was undertaken to systematically summarize the possible association.
Methods: Based on comprehensive search of PubMed, Embase, and CNKI databases, we identified 18 eligible articles examining the relationship between PDE4D SNP 87 and ischemic stroke risk.
In this study, we have identified FAM19A3 as a gene that is significantly upregulated in the microglia in the middle cerebral artery occlusion (MCAO) mouse model. FAM19A3 expression and secretion were promoted by M2 stimuli, and this indicated that FAM19A3 might be an M2-type gene. Indeed, recombinant FAM19A3 promoted M2 polarization and inhibited M1 polarization of microglia in vitro.
View Article and Find Full Text PDFThis study is to explore whether there is presenilin 1 (PS1) gene mutation in Chinese familial Alzheimer's disease (FAD). There has been no such systemic research before in China. Using polymerase chain reaction, single strand conformation polymorphism (PCR-SSCP), followed by denaturing high performance liquid chromatograph (DHPLC) and DNA sequencing, we analyzed a Chinese family with early onset AD.
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