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Open AccessNatural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and...
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Article
Association between genetic variants and characteristic symptoms of type 2 diabetes: A matched case-control study
To examine the association of genetic variants with characteristic symptoms of type 2 diabetes mellitus (T2DM).
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Article
Coronary CT Angiography Using Low Iodine Delivery Rate and Tube Voltage Determined by Body Mass Index: Superiority in Clinical Practice
To explore the feasibility and superiority of iodine delivery rate (IDR) and tube voltage determined by patients’ body mass index (BMI) in coronary CT angiography (CCTA), a total of 1567 patients undertaking C...
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Article
Signal Alteration of Substantia Nigra on 3.0T Susceptibility-weighted Imaging in Parkinson’s Disease and Vascular Parkinsonism
Recent researches have found that 7 Tesla SWI can detect the alteration of substantia nigra hyperintensity in Parkinson’s disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). ...
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Article
S100A14 suppresses metastasis of nasopharyngeal carcinoma by inhibition of NF-kB signaling through degradation of IRAK1
Nasopharyngeal carcinoma (NPC) is a unique head and neck cancer with highly aggressive and metastatic potential in which distant metastasis is the main reason for treatment failure. Till present, the underlyin...
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Article
Exploring an Integrative Therapy for Treating COVID-19: A Randomized Controlled Trial
To develop a new Chinese medicine (CM)-based drug and to evaluate its safety and effect for suppressing acute respiratory distress syndrome (ARDS) in COVID-19 patients.
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Article
Open AccessDevelopment and clinical deployment of a smartphone-based visual field deep learning system for glaucoma detection
By 2040, ~100 million people will have glaucoma. To date, there are a lack of high-efficiency glaucoma diagnostic tools based on visual fields (VFs). Herein, we develop and evaluate the performance of ‘iGlauco...
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Article
Open AccessAudiological and otologic manifestations of glutaric aciduria type I
Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our kn...
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Article
Open AccessHearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-...
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Open AccessAuthor Correction: Development and clinical deployment of a smartphone-based visual field deep learning system for glaucoma detection
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Article
Salt-inducible kinase 1-CREB-regulated transcription coactivator 1 signalling in the paraventricular nucleus of the hypothalamus plays a role in depression by regulating the hypothalamic–pituitary–adrenal axis
Elucidating the molecular mechanism underlying the hyperactivity of the hypothalamic–pituitary–adrenal axis during chronic stress is critical for understanding depression and treating depression. The secretion...
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Article
Combined metabolomics and machine learning algorithms to explore metabolic biomarkers for diagnosis of acute myocardial ischemia
Acute myocardial ischemia (AMI) remains the leading cause of death worldwide, and the post-mortem diagnosis of AMI represents a current challenge for both clinical and forensic pathologists. In the present stu...
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Open AccessSex differences in impact of cumulative systolic blood pressure from childhood to adulthood on albuminuria in midlife: a 30-year prospective cohort study
Albuminuria is recognized as being a predictor of cardiovascular and renal disease. We aimed to identify the impact of the long-term burden and trends of systolic blood pressure on albuminuria in midlife, as w...
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Associations of SGLT2 genetic polymorphisms with salt sensitivity, blood pressure changes and hypertension incidence in Chinese adults
Sodium-glucose cotransporter 2 (SGLT2) inhibitors lowers blood pressure (BP) and exert a salutary effect on the salt sensitivity of BP. This study aimed to examine the associations of SGLT2 genetic variants with ...
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Article
Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
We aim to characterise the ophthalmic findings and retinal vasculature changes in patients with WS, and to analyse the correlation between ophthalmic manifestations and the associated systemic diseases.
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Open AccessIdentification of leukocyte-lymphocyte ratio as a novel prognostic factor in Peripheral T-cell lymphoma
Peripheral T-cell lymphoma (PTCL) is notorious for its heterogeneity as well as poor prognosis. High mortality remains a challenge. Our study aims to assess whether the leukocyte-lymphocyte ratio (LLR) and neu...