ABSTRACT
Background/Aims@#Nonalcoholic steatohepatitis (NASH) is a progressive form of nonalcoholic fatty liver disease (NAFLD) characterized by hepatic steatosis, inflammation, hepatocellular injury, and fibrosis. We aimed to investigate the usefulness of a key biomarker, lipocalin-2 (LCN2), for the detection of NASH progression. @*Methods@#A mouse NASH model was established using a high-fat diet and a high-sugar drinking water. Gene expression profile of the NASH model was analyzed using RNA sequencing. Moreover, 360 NAFLD patients (steatosis, 83; NASH, 277), 40 healthy individuals, and 87 patients with alcoholic fatty liver disease were recruited. @*Results@#Inflammatory infiltration, focal necrosis in the leaflets, steatosis, and fibrosis were documented in the mouse liver. In total, 504 genes were differentially expressed in the livers of NASH mice, and showed significant functional enrichment in the inflammation-related category. Upregulated liver LCN2 was found to be significantly interactive with various interleukins and toll-like receptors. Serum LCN2 levels were significantly increased in NAFLD patients. Serum LCN2 levels were correlated with steatosis, intralobular inflammation, semiquantitative fibrosis score, and nonalcoholic fatty liver disease activity score. The area under the curve of serum LCN2 was 0.987 with a specificity of 100% and a sensitivity of 93.5% for NASH diagnosis, and 0.977 with almost the same specificity and sensitivity for steatosis. @*Conclusions@#LCN2 might be involved in the transition from NAFL to NASH by mediating inflammation. Serum LCN2 levels might be a novel biomarker for the diagnosis of NASH.
ABSTRACT
OBJECTIVE@#To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism.@*METHODS@#Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Suspected variants were validated by Sanger sequencing.@*RESULTS@#WES has identified a heterozygous c.1729G>C (p.G577R) variant of NTRK1 gene and two heterozygous variants of OCA2 gene, namely c.1363A>G (p.R455G) and c.1182+1G>A. WGS has identified two additional heterozygous variants c.(851-798C>T; 851-794C>G) in deep intronic regions of the NTRK1 gene.@*CONCLUSION@#The compound heterozygous variants of the NTRK1 gene probably underlay the congenital insensitivity to pain with anhidrosis. And the compound heterozygous variants of the OCA2 gene probably underlay the albinism in the proband. In the case where no variant is detected by WES in the coding region, WGS should be considered to screen potential variants in the whole genome.
Subject(s)
Child , Humans , Albinism , DNA Mutational Analysis , Hereditary Sensory and Autonomic Neuropathies/genetics , Heterozygote , Membrane Transport Proteins , Mutation , PedigreeABSTRACT
Background/Aims@#Nonalcoholic steatohepatitis (NASH) is a progressive form of nonalcoholic fatty liver disease (NAFLD) characterized by hepatic steatosis, inflammation, hepatocellular injury, and fibrosis. We aimed to investigate the usefulness of a key biomarker, lipocalin-2 (LCN2), for the detection of NASH progression. @*Methods@#A mouse NASH model was established using a high-fat diet and a high-sugar drinking water. Gene expression profile of the NASH model was analyzed using RNA sequencing. Moreover, 360 NAFLD patients (steatosis, 83; NASH, 277), 40 healthy individuals, and 87 patients with alcoholic fatty liver disease were recruited. @*Results@#Inflammatory infiltration, focal necrosis in the leaflets, steatosis, and fibrosis were documented in the mouse liver. In total, 504 genes were differentially expressed in the livers of NASH mice, and showed significant functional enrichment in the inflammation-related category. Upregulated liver LCN2 was found to be significantly interactive with various interleukins and toll-like receptors. Serum LCN2 levels were significantly increased in NAFLD patients. Serum LCN2 levels were correlated with steatosis, intralobular inflammation, semiquantitative fibrosis score, and nonalcoholic fatty liver disease activity score. The area under the curve of serum LCN2 was 0.987 with a specificity of 100% and a sensitivity of 93.5% for NASH diagnosis, and 0.977 with almost the same specificity and sensitivity for steatosis. @*Conclusions@#LCN2 might be involved in the transition from NAFL to NASH by mediating inflammation. Serum LCN2 levels might be a novel biomarker for the diagnosis of NASH.
ABSTRACT
BACKGROUND:There were certain differences in the anatomical structure of knee joint between man and woman. Gender knee solution is a new type of artificial knee joint prosthesis, which is specialy designed for women. Theoreticaly, the outcome of unisex total knee arthroplasty prosthesis should be related to gender, but we did not find very obvious differences in practical clinical work. OBJECTIVE:To analyze the differences in curative effects of the unisex knee arthroplasty prosthesis between male and female patients undergoing total knee arthroplasty so as to find out if it is necessary to apply female knee prosthesis among appropriate crowd. METHODS: We retrospectively analyzed the clinical data of patients undergoing total knee arthroplasty from May 2001 to June 2011. Among 312 patients (350 knees receiving total knee arthroplasty), patients who died within 3 years after surgery, lost to folow-up and underwent revision were excluded. Changes in knee functions and imaging were observed between males and females. RESULTS AND CONCLUSION:The women and men had similar mean pre-operative knee scores, flexion function, pain score among 285 patients (300 knees). However, the women had significantly lower mean extension function and function scores than the men. There were no significant differences in improvement in the knee scores, flexion, the pain and knee function between women and men before and after surgery. Nevertheless, men had better extension than women. No significant difference in radiolucencies and complications was seen between females and males. Therefore, there was little difference in outcomes between women and men who used the unisex total knee arthroplasty prosthesis.