Abstract:
:Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To the best of our knowledge, there are currently no reports that focus on patients with systemic lupus erythematosus (SLE) coexisting with GS. The present study aimed to evaluate the clinical characteristics and genotype of UGT1A1 in a Chinese patient with SLE and GS. Complete medical records and laboratory data were reviewed for a patient with SLE referred to Ruijin Hospital (Shanghai, China) for treatment between March 2016 and January 2020. Genetic analysis of the UGT1A1 gene was performed by PCR amplification and Sanger sequencing. The serum total bilirubin and unconjugated bilirubin concentrations on admission were 96.2 and 86.8 µmol/l, respectively. The homozygous mutation c.1456T>G (p.Y486D) in exon 5 was detected in this patient. The patient had a good response to phenobarbital orally at a dose of 30 mg/day and a decrease in serum bilirubin was observed. Elevated unconjugated hyperbilirubinemia in SLE needs to be differentiated from other diseases, such as GS, which can be diagnosed by UGT1A1 genetic sequencing.
journal_name
Exp Ther Medjournal_title
Experimental and therapeutic medicineauthors
Ye N,Zhou Z,Gong H,Teng J,Han Y,Yang C,Ye Jdoi
10.3892/etm.2020.9219subject
Has Abstractpub_date
2020-11-01 00:00:00pages
91issue
5eissn
1792-0981issn
1792-1015pii
ETM-0-0-09219journal_volume
20pub_type
杂志文章abstract::Achondroplasia (ACH) is a hereditary dwarfism caused by the disturbed proliferation and differentiation of growth plate chondrocytes, followed by impaired endochondral bone growth. ACH is caused by mutations in the gene encoding the transmembrane receptor, fibroblast growth factor receptor 3 (FGFR3). In total, >90% of...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2015.2324
更新日期:2015-05-01 00:00:00
abstract::The aim of this study was to establish and to optimize the preparation technology of whole blood internal quality control (IQC) products for blood transfusion compatibility testing. Several B-type RhD-negative blood samples collected from healthy donors were mixed. Two groups of whole blood IQC products, namely, the p...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2013.994
更新日期:2013-05-01 00:00:00
abstract::The aim of the present study was to provide reliable experimental evidence for the application of autologous skin fibroblasts (asFbs) in the repair of depressed scars. In the experiments, depressed trauma was induced in male Wistar rats, and fibroblasts were separated from the removed skin tissues to culture in medium...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3442
更新日期:2016-08-01 00:00:00
abstract::Macrophage autophagy has a protective role in the development of atherosclerosis; however, it turns dysfunctional in advanced lesions with an increase in p62/sequestosome-1 protein. Little is known about the role and significance of p62 accumulation in atherosclerosis. The present study investigated the association be...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.5221
更新日期:2017-12-01 00:00:00
abstract::The present study aimed to investigate whether serum interleukin-6 (IL-6) expression levels were associated with the onset and progression of intervertebral disc degeneration (IDD). A comprehensive meta-analysis of the scientific literature from numerous electronic databases was performed, in order to obtain published...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3079
更新日期:2016-04-01 00:00:00
abstract::Hepatocellular carcinoma (HCC) is a primary malignancy in the liver, which is a global health problem. The present study aimed to observe the apoptotic effects of berbamine on SMMC-7721 cell lines and to investigate the effects of berbamine on induction of the intrinsic apoptotic pathway. The human HCC SMMC-7721 cells...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.5637
更新日期:2018-02-01 00:00:00
abstract::Phthalates are confirmed to have toxic effects on the reproductive system and are likely to have further damaging actions in humans. The present study explored the molecular mechanisms of the toxic effect of mono-(2-ethylhexyl) phthalate (MEHP) on mouse Sertoli cells. Cell apoptosis and proliferation assays were used ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7239
更新日期:2019-04-01 00:00:00
abstract::The inactivation of the cyclin-dependent kinase inhibitor p16(INK4A) gene by hypermethylation is observed in numerous types of cancer. New findings indicate that DNA and histone methylation act in concert in gene silencing. In this study, we investigated the methylation status of the p16(INK4A) gene promoter and the h...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2012.683
更新日期:2012-11-01 00:00:00
abstract::Synovitis, acne, palmoplantar pustulosis, hyperostosis and osteitis syndrome (SAPHO) is a rare syndrome that affects the skin, bones and joints. Diagnosis of SAPHO syndrome is established on clinical appearance and imaging features. The present case report described the imaging features of three cases of SAPHO with st...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3689
更新日期:2016-10-01 00:00:00
abstract::Eosinophilia has been implicated in the pathophysiology of acute exacerbation of chronic obstructive pulmonary disease (AECOPD). However, the role of eosinophil activation in the development of AECOPD remains unclear. In the present study, the reliability of plasma levels of eosinophil activation markers, including eo...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.4876
更新日期:2017-10-01 00:00:00
abstract::Guillain-Barré syndrome is a type of acute inflammatory neuropathy that causes ataxia and is associated with the IgG anti-GM1 antibody. However, the pathogenic role of the IgG anti-GM1 antibody and calcium channels in neuromuscular junctions (NMJs) remains unclear. Thus, the aim of the present study was to investigate...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2015.2575
更新日期:2015-08-01 00:00:00
abstract::The present study evaluated the value of black-blood high-resolution magnetic resonance imaging (HRMRI) for the visualization of intracranial atherosclerosis (ICAS) plaques. A total of 110 patients with cerebral artery or vertebrobasilar stenosis, vessel occlusion or a significantly weakened signal in black-blood magn...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2015.2469
更新日期:2015-07-01 00:00:00
abstract::A male 46 year-old patient was admitted to the Emergency Intensive Care Unit of Qinghai Provincial People's Hospital (Xining, China) in December 2008 with complaints of a headache and fever that had lasted for three days. In addition, the patient had experienced two general convulsions accompanied with consciousness d...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3750
更新日期:2016-11-01 00:00:00
abstract::MicroRNAs (miRNAs) are small, non-coding RNAs that are key regulators of gene expression by directly binding to the 3'-untranslated region of their target mRNAs, resulting in translational repression or degradation of mRNA. It has been demonstrated that miRNAs have key roles in a variety of human malignancies, includi...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.4204
更新日期:2017-05-01 00:00:00
abstract::There is little information regarding the recent trend of synchronous and metachronous pulmonary metastases in patients with primary colorectal cancer. We investigated patients with sporadic colorectal cancer who underwent surgery in our department between 1990 and 2009. Clinicopathological parameters of primary cance...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2011.443
更新日期:2012-03-01 00:00:00
abstract::Different tacrolimus (TAC) population pharmacokinetic (PPK) models have been established in various pediatric disease populations. However, a TAC PPK model for pediatric refractory nephrotic syndrome (PRNS) has not been well characterized. The current study aimed to establish a TAC PPK model in Chinese PRNS and provid...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7446
更新日期:2019-05-01 00:00:00
abstract::Electrospinning using biocompatible polymer scaffolds, seeded with or without stem cells, is considered a promising technique for producing fibrous scaffolds with therapeutic possibilities for ischemic heart disease. However, no optimal scaffolds for treating ischemic heart disease have been identified thus far. In th...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7405
更新日期:2019-05-01 00:00:00
abstract::Diabetic nephropathy (DN) is the leading cause of end-stage renal disease worldwide with high morbidity and mortality. Glomerular mesangial cell (MC) proliferation, inflammatory cell infiltration and extracellular matrix (ECM) accumulation are the main pathological characteristics of DN. A previous study revealed that...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7793
更新日期:2019-09-01 00:00:00
abstract::The association between inflammatory cytokines and the risk of post-stroke depression (PSD) remains unclear. The aim of the present study was to investigate this association and the effect of PSD on the outcomes of ischemic stroke patients. A total of 355 patients who had experienced ischemic stroke participated in in...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3494
更新日期:2016-09-01 00:00:00
abstract::This study investigated optimal pathways for preeclampsia (PE) utilizing the network-based guilt by association (GBA) algorithm. The inference method consisted of four steps: preparing differentially expressed genes (DEGs) between PE patients and normal controls from gene expression data; constructing co-expression ne...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7410
更新日期:2019-05-01 00:00:00
abstract::The aim of the present study was to investigate the changes in mitotic reorientation and relative differential gene expression in rat prostate epithelial cells following long-term exposure to testosterone propionate (TP). Sprague-Dawley rats were randomly divided into two groups as follows: TP group, which received 3....
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3044
更新日期:2016-04-01 00:00:00
abstract::Uterine carcinosarcoma (UCS) is a rare but very aggressive cancer of the female reproductive tract with an extremely poor prognosis. With the goal of understanding the role of microRNA (miRNA) dysregulation in these tumors, we profiled the expression of 667 human miRNAs in a panel of eight UCS patients and five benign...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2012.458
更新日期:2012-04-01 00:00:00
abstract::The aim of this study was to use proteomic and transcriptomic approaches to examine differences in protein and gene expression in maternal plasma between normal and preeclamptic pregnancies. Preeclampsia and control groups were compared with respect to the expression of CD34 and CD133 genes by quantitative polymerase ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2015.2509
更新日期:2015-08-01 00:00:00
abstract::This study was designed to assess the relationship between changes in peripheral inflammatory factors of patients complicated with non-alcoholic fatty liver disease (NAFLD) undergoing coronary artery bypass grafting (CABG) before and after operation, and their prognosis. A total of 68 patients with stable angina pecto...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.5476
更新日期:2018-01-01 00:00:00
abstract::Active P-glycoprotein (P-gp) molecules have been shown to transport steroids out of peripheral lymphocytes, resulting in poor responses to systemic steroid therapy in patients with systemic lupus erythematosus (SLE). This study was carried out to investigate the correlation between the expression or activity of P-gp i...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2012.667
更新日期:2012-10-01 00:00:00
abstract::The aim of the present study was to clarify the association between lipid metabolism and the atherosclerosis in early-stage chronic renal failure at the molecular level and to explore the efficacy of decorin on chronic renal failure. Sprague Dawley rats receiving 5/6 nephrectomy and Sham surgery were divided into cont...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2014.2106
更新日期:2015-02-01 00:00:00
abstract::The present study aimed to investigate the expression of microRNA (miRNA or miR)-186 in tumor tissue, blood and urine from patients with bladder cancer. The mechanism by which miR-186 regulates the invasion and metastasis of bladder cancer was also assessed. A total of 76 patients who underwent surgical resection of b...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.4908
更新日期:2017-10-01 00:00:00
abstract::The aim of the present study was to investigate the association between polymorphism in the serotonin transporter (5-HTT) gene-linked polymorphic region (5-HTTLPR) in the promoter region of the 5-HTT gene and the pathogenesis of postpartum depression (PPD). Blood samples were collected from 120 female patients with PP...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2014.2043
更新日期:2015-01-01 00:00:00
abstract::Cardiac fibrosis is a common phenomenon in different types of heart diseases, such as ischemic heart disease, inherited cardiomyopathy mutations, diabetes, and ageing and is associated with morbidity and mortality. Increased accumulation of extracellular matrix (ECM) that impacts cardiac function, is the underlying ca...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.4224
更新日期:2017-05-01 00:00:00
abstract::The aim of this study was to investigate the safety, feasibility and mid-term results of laparoscopy-assisted surgery in the treatment of locally advanced gastric antral cancer. The clinical data of 50 patients who received laparoscopy-assisted surgery (Group A) and 62 patients who were treated by conventional laparot...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2013.1199
更新日期:2013-09-01 00:00:00