Objective To investigate the causative mutations of CYP27A1 gene in a sporadic cerebrotendinous xanthomatosis patient. Methods Genomic DNA was extracted from peripheral blood of the patient and her parents. All exons and splice sites of CYP27A1 gene were amplified by polymerase chain reaction (PCR) followed by Sanger sequenc-ing. 105 healthy unrelated subjects were also sequenced for the novel mutation in CYP27A1. Results A novel splice site mutation c.446+1G>T, a novel missense mutation c.877A>T(p.Met293Leu) and a known missense mutation c.1016C>T (p.Thr339Met) of CYP27A1 gene were identified in the patient. The mother carriers the two novel mutations and the fa-ther the c.1016C>T(p.Thr339Met) mutation. The two novel mutations were absent in 105 control subjects, respectively. Conclusions Our study detected two novel mutations, c.446+1G>T and c.877A>T, as well as a known mutation c.1016C>T, of CYP27A1 in a sporadic cerebrotendinous xanthomatosis patient. Our data provide novel information for the mutational spectrum of the gene, which is applicable in the genetic testing and diagnosis. The data also provide in-sight into the pathogenesis of the disease.

Objective To investigate the clinical manifestation, inherited pattern and the related factor of Hunting?ton disease families. Method The clinical data from 12 HD families was collected from 2013-2014. Patients received the genetic test and neurological evaluation including motor, cognitive and problem of behavior. Results There were 12 patients having the IT15 gene dynamic mutations, including 1 Juvenile Huntington disease patient and 3 pre-symptomat?ic mutant gene carriers. The average CAG repeats of these patients was between the range of 40 to 60, and the average on?set age ranged from 13 to 54 year-old. Positive family history and genetic anticipation could be observed. Patients pre?sented with different clinical manifestations at the early stage while had typical chorea movements, declined cognitive and psychiatric symptoms at the late stage of the illness. Conclusions There are typical triad symptoms in the late stage but not in the early stage nor pre-symptom stage illness. Clinical manifestation and the neuroimaging are both of great ref?erence value, and the genetic test is essential for final diagnosis.

Objective To explore the role of Entecavir in CD4 * T cells and CD4 + CD25 + Foxp3 + regulatory T cells of patients with chronic hepatitis B.Methods Patients with chronic active hepatitis B (CAH,n =50) were divided into Entecavir treatment group (n =30) and controls (n =20).The entecavir treatment group and the controls were followed up for 12 months.The frequency and phenotype of peripheral CD4 + and CD4 + CD25 + Foxp3 + T cells were detected by flow cytometry.Results Patients with CHB receiving entecavir treatment for 3 months,6 months and 12months exhibited significantly higher frequency of CD4 + T cells and CD4/CD8 ratio as opposed to those of baseline levels(P ＜0.05).The frequency of CD4 +CD25 + Foxp3 + T cells from the patients receiving entecavir treatment for 3 months,6 months and 12 months was significantly decreased compared with that of basline level(P ＜ 0.05).However,the frequency of CD4 T cells and CD4 + CD25 + Foxp3 + T cells,as well as CD4/CD8 ratio of the control group following up for 12 months displayed no significant differences compared with its baseline levels.The serum HBV DNA level from the baseline to Entecavir treatment for 12 months was correlated with the frequency of CD4 + CD25 +Foxp3 * T cells from the baseline to Entecavir treatment for 12 months.Conclusions Entecavir not only can effectively suppress HBV replication,but also simultaneously improve the cellular immune function of chronic hepatitis B.

Objective To explore the clinical characteristics and risk factors of catheterrelated infection in continuous renal replacement therapy (CRRT) patients.Methods The demographic and clinical data of CRRT patients who inserted with double-lumen non-cuffed dialysis catheter at the First Affiliated Hospital of Sun Yat-sen University from January 1,2016 to December 31,2016 were collected.According to the presence or absence of catheter-related infections,they were divided into infected group and uninfected group.Statistics and analysis of the incidence and pathogenic characteristics of catheter-related infections;Comparison of clinical features of infected and uninfected groups;A multivariate Cox proportional hazard model was used to analyze risk factors for catheter-related infections.Results A total of 364 patients with CRRT (437 cases of central venous catheterization) were enrolled in the study.Catheter-related bloodstream infection (CRBSI) and catheterrelated colonization (CRCOL) rates were 3.565 and 2.228 events per 1000 catheter-days.These catheters were associated with higher proportion of inserted in ICU (P=0.007),immunosuppression (P=0.002),receive catecholamine inotropes therapy (P=0.001) and shock (P=0.030).The infection catheters also had shorter indwelling time (P=0.032) and lower level of blood hemoglobin (P=0.017),serum creatinine (P=0.004),blood brain natriuretic peptide (P=0.005) pericatheter use.The most common pathogens were Gram-negative bacteria,especially Acinetobacter baumannii,which caused 37.5％ CRBSI and 20.0％ CRCOL.Multivariate Cox regression model showed female (P=0.029,HR=2.151),diabetes (P=0.016,HR=2.807),receive catecholamine inotropes therapy (P=0.012,HR=2.655),immunosuppression (P=0.037,HR=2.203) were independent risk factors associated with catheterrelated infection.Conclusions The incidence of CRBSI and CRCOL is 3.565 and 2.228 events per 1000 catheter-days CRRT patients in our hospital.The most common pathogen of catherter-related infection is Gram-negative bacteria.Female,diabetes,received catecholamine inotropic drugs,and immunosuppression were independent risk factors associated with catheter-related infection.

Objective:To assess the bacterial profiles and antimicrobial susceptibility patterns in uropathogens, and help to inform the empiric treatment decisions for urinary tract infection in outpatient settings.Methods:A single institutional retrospective analysis was performed on positive urine cultures from outpatient settings between January 1998 and December 2018. To analyze changes over time, trends analysis were undertaken on bacterial profiles, antimicrobial susceptibility and resistance.Results:A total of 1.172 pathogenic bacteria were isolated after exclusion of duplicate strains originated from the same patient, including 991(84.6%) Gram-negative bacterial strains and 181(15.4%) Gram-positive strains. The most common Gram-negative uropathogens were Escherichia coli (60.8%) and Klebsiella pneumonia (8.1%). Enterococcus faecalis (4.6%) was the predominant Gram-positive strain. The detection rate of Escherichia coli increased significantly, from 50.8% to 63.2% ( χ2=7.978, P=0.046), and no significant difference was observed in the distribution of major uropathogenic bacteria over the 20 years (all P>0.05). The proportion of extended-spectrum β-lactamase (ESBLs) producing strains increased significantly across the 20 years ( P<0.05). The resistance rates of Escherichia coli to amoxicillin and clavulanate potassium, aztreonam, ceftazidime, ciprofloxacin and sulbactam + cefoperazone increased significantly (all P<0.05). All the isolates sustained high susceptibility to tazobactam + piperacillin, amikacin, imipenem and nitrofurantoin (95.0%, 95.7%, 97.9% and 91.1%). Similar to those of Escherichia coli, Klebsiella pneumoniae remained a high and stable sensitivity to tazobactam+piperacillin, amikacin and imipenem during the 20 years (79.1%, 88.0% and 80.3%). However, the proportion of ESBLs producing strains increased significantly ( P<0.05). Among Gram-positive bacteria isolates, the sensitivity rates of Enterococcus faecalis to ampicillin, nitrofurantoin and penicillin G were 100.0%. No vancomycin resistant strain was detected in Gram-positive bacteria. Conclusions:From 1998 to 2018, Escherichia coli and Klebsiella pneumoniae are the most common Gram-negative bacteria uropathogens obtained in outpatient settings. Significant increases of resistance to some antimicrobial agents such as second- and third-generation cephalosporins and fluoroquinolones are observed during the 20 years and high susceptibilities to tazobactam+piperacillin, amikacin, imipenem and nitrofurantoin sustain over time. Local treatment strategies of urinary tract infections on outpatient basis should be made according to epidemiology of drug resistance and individual characteristics to control the spread and curb the prevalence of drug resistant.