Genetic analysis and prenatal diagnosis for patients with non-syndromic hearing impairment / 天津医药

Objective To explore the genetic pathogen of patients with non-syndromic hearing impairment and to provide prenatal diagnosis for the families of hereditary deafness. Methods Mutation screening of GJB2, SLC26A4, GJB3 and mitochondrial 12 S rRNA genes was performed in 208 patients with non-syndromic hearing impairment by gene chip. Then direct sequencing was used in 41 patients who were found one mutation of GJB2 or SLC26A4 gene. And prenatal diagnosis was carried out in two families by direct sequencing. Results Eighty-six patients (41.35％) were found at least one mutation by gene chip. Among them, 40 patients were found to carry two mutations and 46 patients were found to carry one mutation. The most frequent mutation was 235delC, which was found in 46 patients. And 12 cases were found the second mutation through direct sequencing. A total of 52 (25.00％) patients were detected two mutations. Prenatal diagnosis showed that one fetus carried compound mutations of 299-300delAT and 235delC, and another one carried heterozygous mutation of IVS7-2A>G. Conclusion Patients with non-syndromic hearing impairment can be accurately diagnosed by gene chip and Sanger sequencing. The prenatal diagnosis is primary means for high-risk fetuses.

Delayed liver regeneration after partial hepatectomy in aged Nos2 knockout mice

Objective: Patients over 60 years of age have higher mortality and morbidity after major liver resections. Nitric oxide [NO] derived from the catalytic activity of Nos2 plays a beneficial role in liver regeneration [LR] after partial hepatectomy [PH]. In this experiment, we evaluated the effect of Nos2 knockout [KO] on LR in aged mice after PH

Materials and Methods: In this experimental study, 52 two-year-old Nos2 KO and 46 the same age wild-type [WT] C57BL/6J mice were subjected to 2/3 PH. Liver tissues were collected at 11 time points after PH. Mice survival ratio and liver coefficient [liver-weight/body-weight] was calculated. Transcript and protein levels were estimated by reverse transcriptase-quantitative polymerase chain reaction [RT-qPCR] and Western blot, respectively

Results: The aged Nos2 KO mice had lower survival ratio [P=0.039] and liver coefficient [P=0.002] at the termination phase. Nos2 transcript level was obviously increased after PH in WT mice and undetected in the Nos2 KO mice. During LR, the expression at the transcript level of Cyclin D1, Cyclin A2 and Cyclin B1 and protein expression level of proliferation marker Ki67 and proliferation-associated transcription factors JNK1, NF-kB and STAT3 were decreased or delayed. The expression of pro-apoptotic proteins, CASPASE3, CASPASE9 and BAX, was increased in the Nos2 KO mice

Conclusion: Decreased survival ratio and impaired LR in aged Nos2 KO mice is probably due to decreased liver cell proliferation and increased liver cell apoptosis

Reference intervals for liver function tests in normal pregnant women in the last trimester of pregnancy / 国际检验医学杂志

Objective To explore changes of serum levels of liver function indicators and their reference intervals in pregnant women in the last trimester of pregnancy ,and to analyse its clinical significance .Methods From July 2013 to June 2014 ,a total of 4 659 cases of pregnant women in the last trimester of pregnancy and 3 089 healthy non‐pregnant women were enrolled in this stud‐y .Serum levels of alanine aminotransferase(ALT) ,aspartatre transaminase(AST) ,total protein(TP) ,albumin(Alb) ,pre‐albumin (PA) ,total bilrubin(TBIL) ,direct bilrubin(DBIL) ,indirect bilrubin(IBIL) ,γ‐glutamyl transpeptidase(GGT)and mitochondrial as‐partate aminotransferase(m‐AST) were determined by fully automatic biochemical analyzer .Results Compared with healthy non‐pregnant women ,serum levels of ALT ,AST ,TP ,Alb ,PA ,TBIL ,DBIL ,IBIL and GGT were significantly decreased ,while serum le‐vers of ALP ,m‐AST and TBA were significantly increased in pregnant women in the last trimester of pregnancy ,there were statis‐tically significant differences(P<0 .05) .Conclusion This study suggested that the liver functions of pregnant women were signifi‐cantly different from healthy non‐pregnant women .Each clinical laboratory should establish reference intervals of liver function indi‐cators for pregnant women at each stage of pregnancy ,so as to timely ,correctly and reasonably evaluate their liver functions and material nutrition status ,and provide better antenatal care services .

Restoration of CpG Methylation in the Egf promoter region during rat liver regeneration

Epidermal growth factor [EGF] is an important factor for healing after tissue damage in diverse experimental models. It plays an important role in liver regeneration [LR]. The objective of this experiment is to investigate the methylation variation of 10 CpG sites in the Egf promoter region and their relevance to Egf expression during rat liver regeneration. As a follow up of our previous study, rat liver tissue was collected after rat 2/3 partial hepatectomy [PH] during the re-organization phase [from days 14 to days 28]. Liver DNA was extracted and modified by sodium bisulfate. The methylation status of 10 CpG sites in Egf promoter region was determined using bisulfite sequencing polymerase chain reaction [PCR], as BSP method. The results showed that 3 [sites 3, 4 and 9] out of 10 CpG sites have strikingly methylation changes during the re-organization phase compared to the regeneration phase [from 2 hours to 168 hours, P=0.002, 0.048 and 0.018, respectively]. Our results showed that methylation modification of CpGs in the Egf promoter region could be restored to the status before PH operation and changes of methylation didn't affect Egf mRNA expression during the re-organization phase

Research in prevention and treatment of venous injury caused by intravenous infusion of Delisheng with anisodamine gel / 中国实用护理杂志

Objective To investigate the effect of prevention and treatment of venous injury caused by intravenous infusion of Delisheng with anisodamine gel.Methods 100 patients with intravenous infusion of Delisheng were randomly divided into the experimental group and the control group,50 patients in each group,and the skin at the top of transfusion puncture points of the patients of the experimental group were evenly embrocated with 2% anisodamine gel along the vein before 3 to 5 minutes of intravenous infusion of Delisheng,while the control group received no treatment.After observing the situation of venous injury,the skin at the top of transfusion puncture points of the positive patients was embrocated with 2% anisodamine gel,and the effect on venous injury was observed.Results The incidence rate of intravenous pain of the experimental group was 4%,there wasn't any occurrence of poor intravenous infusion or swelling of the infusion position.The incidence rate of poor intravenous infusion of the control group was 34% and phlebitis incidence rate was 42%,and intravenous pain incidence rate was 68%.All the venous injury symptoms of 39 patients of the control group and 2 patients of the experimental group disappeared after treatment.Conclusions The embrocating of 2% anisodamine gel can effectively prevent and treat the venous injury caused by intravenous infusion of Delisheng.

Clinical research in prevention and cure effect of anisodamine gel on phlebitis caused by intra-venous infusion of KLT / 中国实用护理杂志

Objective To investigate the prevention and cure effect of anisodamine gel on phlebitis caused by intravenous infusion of KLT. Methods 96 patients with intravenous infusion of KLT were divided into the experimental group and the control group, 48 patients in each group, and the skin at the top of transfusion puncture points of the patients of the experimental group was evenly embrocated with 2% anisodamine gel along the vein before 3 to 5 minutes of intravenous infusion of KLT, while the control group was without any treatment. After observing the situation of venous injury, the skin at the top of transfusion puncture points of the positive patients would be embrocated with 2% anisodamine gel. The incidence, degree of phlebitis and treatment effect were compared between the two groups. Results The incidence rate of phlebitis of the control group was 68.7%, of which grade II, III occupied 60.4%, while the incidence rateof phlebitis of the experimental group was 10.4%, in which there was no occurrence of grade II, III phlebitis. All the venous injury symptoms of 33 patients of the control group and 5 patients of the experi -mental group disappeared after treatment, and after statistical processing, the incidence rate of phlebitis in the experimental group and the control group showed significant differences. Conclusions The embrocating of 2% anisodamine gel can effectively avoid the occurrence of the phlebitis caused by intravenous infusion of KLT.