Publications by authors named "Yuan Yun"

Introduction: The aim of this study was to describe the therapeutic effects of immunomodulatory therapy in 3 patients with childhood autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (SRP-ANM).

Methods: Before treatment, data on clinical features, muscle pathology, and thigh MRIs were obtained. After definitive diagnoses, all 3 patients were treated with intravenous immunoglobulin and corticosteroids, and thigh MRIs were performed.

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Enhanced monsoon duration and soil acidification from acid rain are expected to impact the distribution of microbial communities in surface and subsurface environments, although these impacts are poorly understood for most systems. In central China, soluble carbonate bedrock forms extensive karst landscapes. Current predictions are that the amount of monsoonal precipitation and acid rainfall in central China will increase, which is expected to lead to changes in the pH balance of karst ecosystems.

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Neuroinflammation plays an important role in different brain diseases including acute brain injuries such as cerebral ischemic stroke and chronic neurodegenerative diseases e.g. Alzheimer's disease etc.

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Estrogen biosynthesis is pivotal to many physiological processes of human. Aberrant estrogen level is closely related to a variety of diseases, including breast cancer and osteoporosis. Previously we found that 2-phenylbenzo[b]furan glycosides could promote estrogen biosynthesis.

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Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease.

Methods: Eighty-nine index patients were included in the study.

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Objectives: To compare the effects of an erlotinib-based targeted dual agent with erlotinib alone in previously treated patients with advanced non-small lung cancer (NSCLC).

Patients And Methods: The PubMed and Embase databases and the Cochrane Central Register of Controlled Trials were searched for publications between January 2005 and March 2016. Hazard ratios (HRs) with their 95% confidence intervals (CIs), or data for calculating HRs with 95% CIs were derived.

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Background: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies.

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Background: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved. We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients.

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Introduction: The aim of this study was to evaluate the pattern of thigh muscle MRI changes in a large cohort of patients with dysferlinopathy.

Methods: MRI of the thigh was performed in 60 patients. We correlated the scale of muscle involvement on MRI with the modified Gardner-Medwin and Walton (GM-W) scale and disease duration.

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Scutellarin, an anti-inflammatory agent, has been reported to suppress microglia activation. It promotes astrocytic reaction but through activated microglia. Here we sought to determine more specifically the outcomes of scutellarin treatment in reactive astrocytes in rats subjected to middle cerebral artery occlusion (MCAO).

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The cerebral ischemia is one of the most common diseases in the central nervous system that causes progressive disability or even death. In this connection, the inflammatory response mediated by the activated microglia is believed to play a central role in this pathogenesis. In the event of brain injury, activated microglia can clear the cellular debris and invading pathogens, release neurotrophic factors, etc.

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Surface states of carbon dots (CDs) are critical to the photoemission properties of CDs. By carefully adjusting the reaction conditions in a hydrothermal synthesis route, we have prepared a series of CDs with excitation-dependent emission (EDE) and excitation-independent emission (EIE) properties by controlling the content of nitrogen elements, confirming that the characteristic optical properties of CDs originate from their energy levels. It has been found that surface-passivation of the as-prepared CDs by nitrogen doping can improve the emission efficiency and be beneficial to EIE features due to the single electron transition resulting from the single functional groups.

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Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV.

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Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD.

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Objective: To elucidate the usefulness of next generation sequencing for diagnosis of inherited myopathy, and to analyze the relevance between clinical phenotype and genotype in inherited myopathy.

Method: Related genes were selected for SureSelect target enrichment system kit (Panel Version 1 and Panel Version 2). A total of 134 patients who were diagnosed as inherited myopathy clinically underwent next generation sequencing in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2014.

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Objective: To investigate incidence and clinical features of multiple organ involvement in Chinese patients with Fabry disease.

Methods: We collected 151 patients of 31 families with Fabry disease, all of whom were confirmed by classic pathology, decreased α-galactosidase A activity or GLA mutation from the year of 2011 to 2014 in Department of Neurology, Peking University First Hospital. The clinical data included incidence and onset of neuralgia, renal dysfunction, heart disease, hypertension and cerebral stroke.

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Objective: To explore the pathological features of muscles and peripheral nerves of Kennedy's disease (KD).

Methods: A total of 12 male patients were selected at our department from January 2006 to October 2014. Their definite diagnoses of KD were made by genetic testing of androgen receptor.

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Objective: To explore clinical and muscular pathological features of statin-induced myopathy.

Methods: Nine patients were enrolled in this study, who were diagnosed as statin-induced myopathy by muscle biopsy in Peking University First Hospital from April, 2012 to October, 2014. The clinical data and pathological findings were analyzed.

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Background: Scutellarin, an anti-inflammatory agent, effectively suppressed microglia activation in rats with middle cerebral artery occlusion (MCAO). Robust microglia activation, acute in onset, was followed by astrogliosis. This study was aimed to determine if scutellarin would also affect the reactive astrocytes that play an important role in tissue repair.

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Caves are nutrient-limited and dark subterranean ecosystems. To date, attention has been focused on geological research of caves in China, whilst indigenous microbial diversity has been insufficiently characterized. Here, we report the fungal diversity in the pristine, oligotrophic, karst Heshang Cave, central China, using a culture-dependent method coupled with the analysis of the fungal rRNA-ITS gene sequences.

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Background: Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family.

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Objective: To evaluate the endothelial functions and autoregulation capacity of cerebral blood flow in patients with Fabry disease.

Methods: Brachial artery vasodilation was assessed in 8 patients with Fabry disease and 14 healthy controls by means of flow-mediated dilation (FMD) and Nitroglycerin-mediated dilation (NMD). Cerebrovascular reactivity was calculated in terms of breath-holding index (BHI) and vascular motor reactivity (VMR) by TCD-CO2 test in 4 patients and 14 healthy controls.

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Background And Aims: Acute severe asthma, thyroid crisis and acute myasthenia are all medical emergencies that rarely coexistent. Here, we report a young man with severe asthma attack, necessitate invasive mechanical ventilation at the onset, followed by thyroid crisis, rhabdomyolysis, acute kidney injury, thrombocytopenia and progressive myasthenia. The aim of this study is to better understand the relationships among severe asthma, autoimmune thyroiditis and myasthenia.

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Background: The objective of this study was to examine the clinical, pathological and genetic features of a family suffering from hereditary endotheliopathy with retinopathy and encephalopathy.

Methods: The index case was male, and his symptoms were detected at 18 years of age. The clinical manifestation included recurrent headache, fever, consciousness disturbances and haemiplegia.

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Carbon dots doped with germanium (GeCDs) were firstly prepared by a new simple 15 min carbonation synthesis route, exhibiting excitation-independent photoluminescence (PL), which could avoid autofluorescence in bioimaging applications. The as-prepared GeCDs have low cell toxicity, good biocompatibility, high intracellular delivery efficiency, stability and could be applied for detection of mercury(II) ions with excellent selectivity in complicated medium. It is to be noted that the as-prepared GeCDs used as a new type of probe for visualization of dynamic invasions of mercury(II) ions into Hep-2 cells display greatly different properties from most of the previously reported CDs which are regularly responsive to iron ions.

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