Efficacy of plasma exchange combined with dual plasma molecular adsorption system in the treatment of patients with hepatitis B virus related acute-on-chronic liver failure / 中华传染病杂志

Objective:To investigate the clinical efficacy of plasma exchange combined with dual plasma molecular adsorption system (PE+ DPMAS) in treating patients with hepatitis B virus related acute-on-chronic liver failure (HBV-ACLF).Methods:A total of 114 HBV-ACLF patients admitted to The Affiliated Hospital of Southwest Medical University in Luzhou City and treated with PE+ DPMAS from June 2014 to January 2018 were included. According to different basis of liver diseases, there were type A, type B and type C. The laboratory data and model for end-stage liver disease (MELD) of patients before PE+ DPMAS and 48 h after treatment, and the prognosis of patients at 90 d were retrospectively analyzed. Independent sample t test, paired sample t test, nonparametric test, variance analysis and chi-square test were used for statistical analysis. Results:The clinical stages among patients with type A (22 cases), type B (39 cases) and type C (53 cases) were mainly early (seven, 17, 22 cases) and mid-stages (eight, 14, 20 cases). Before PE+ DPMAS, alanine aminotransferase (ALT), prealbumin (pAlb), albumin (Alb), creatinine (Cr), total bilirubin (TBil), prothrombin time (PT), international normalized ratio (INR), prothrombin activity (PTA), and MELD were all not statistically different among the patients in the three groups (all P>0.05). After PE+ DPMAS treatment, ALT, TBil, PT, INR, MELD, pAlb, Alb, and PTA in patients with type A were statistically different compared with those before treatment ( Z=5.104, t=5.555, 4.974, 4.481, 7.984, -5.396, -2.784 and -6.752, respectively, all P<0.05). ALT, TBil, PT, INR and MELD in patients with type B were significantly decreased, while pAlb and PTA were significantly increased after treatment ( Z=-5.428, t=4.867, 4.405, 4.179, 6.186, -6.290 and -4.533, respectively, all P<0.01). ALT, pAlb and TBil in patients with type C after PE+ DPMAS treatment were significantly different from those before treatment ( Z=-5.723, t=-2.525 and 2.462, respectively, all P<0.05). There was no statistically significant difference in Cr of the three groups before and after treatment (all P>0.05). The patients with type A had the shortest hospital stay ((17.95±5.92) d), while the patients with type C had the longest stay ((25.77±7.02) d). The hospital stay of patients with type B was (21.79±6.72) d. The difference was statistically significant ( F=11.317, P<0.01). After 90 d follow-up, four patients (18.18%) with type A died, nine patients (23.08%) with type B died, and 25 patients (47.17%)with type C died. The difference was statistically significant ( χ2=8.615, P=0.013). Conclusion:HBV-ACLF patients with type A and type B have better prognosis after PE+ DPMAS treatment compared to patients with type C who are in the decompensated stage of liver cirrhosis.

Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong / 中华医学遗传学杂志

OBJECTIVE@#To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong.@*METHODS@#Peripheral blood samples of 420 NSHL patients were collected, and a hereditary-deafness-gene microarray was used to detect GJB2 c.235delC, c.299-300delAT, c.35delG and c.176del16 mutations, GJB3 c.538C>T mutation, SLC26A4 c.2168A>G and c.IVS7-2A>G mutations, and 12S rRNA c.1555A>C and c.1494C>T mutations. For patients carrying single heterozygous mutations, the coding regions of the above genes were analyzed with Sanger sequencing.@*RESULTS@#The results of the microarray assay and Sanger sequencing showed that 84 patients (20.00%) carried GJB2 mutations, with c.235delC (16.43%) and c.299-300delAT (7.86%) being most common. Seventy-five patients (17.86%) carried SLC26A4 mutations, for which c.IVS7-2A>G accounted for 15.71%. In addition, 5.95% of patients carried 12S rRNA mutations. Only one patient was found to carried GJB3 mutation (c.538C>T).@*CONCLUSION@#Common pathogenic mutations for NSHL in eastern Shandong included GJB2 c.235delC and SLC26A4 c.IVS7-2A>G. Of note, 5.95% of patients were due to 12S rRNA m.1555A>G mutation, which gave a frequency greater than other regions of China.

Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*Methods@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*Results@#The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*Conclusion@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*METHODS@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*RESULTS@#The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*CONCLUSION@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

Effect of storage autologous blood component transfusion versus storage autologous whole blood transfusion on cellular immune function and hemorheology in patients undergoing spinal surgery / 中华麻醉学杂志

Objective To compare the effect of storage autologous blood component transfusion versus storage autologous whole blood transfusion on the cellular immune function and hemorheology in the patients undergoing spinal surgery.Methods Forty patients of both sexes,aged 32-60 yr,of American Society of Anesthesiologists physical status Ⅰ or Ⅱ,undergoing elective multilevel spinal surgery,were divided into 2 groups (n =20 each) using a random number table:stored autologous whole blood transfusion group (group A) and stored autologous blood component transfusion group (group B).Before blood sampling (T0),immediately after blood sampling (T1) and at the end of surgery (T2),arterial blood samples were collected for determination of red blood cell count (RBC),hemoglobin (Hb),hematocrit (Hct),erythrocyte aggregation index (EAI) and erythrocyte rigidity index (ERI).Venous blood samples were collected at T0,T2 and on day 6 after surgery (T3),the distribution of T lymphocyte subsets (percentage of CD3+,CD4+ and NK cells) was measured,and CD4+/CD8+ ratio was calculated.Results Compared with the baseline at T0,the percentage of CD3+,CD4+ and NK cells and CD4+/CD8+ ratio were significantly decreased at T2,3 in group A and at T2 in group B,and RBC,Hb and Hct were significantly decreased at T1,and EAI and ERI were decreased at T1,2 in two groups (P＜0.05).Compared with group A,the percentage of CD3+,CD4+ and NK cells and CD4+/CD8+ ratio were significantly increased at T3 (P＜0.05),and no significant change was found in RBC,Hb,Hct,EAI or ERI at each time point in group B (P＞0.05).Conclusion The effect of storage autologous blood component transfusion on cellular immune function is mitigated than that of storage autologous blood transfusion and the effects on hemorheology are comparable in the patients undergoing spinal surgery.