Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX / 中华肝脏病杂志

Objective: Glycogen storage disease type IX (GSD-IX) is a rare primary glucose metabolism abnormality caused by phosphorylase kinase deficiency and a series of pathogenic gene mutations. The clinical characteristics, gene analysis, and functional verification of a mutation in a child with hepatomegaly are summarized here to clarify the pathogenic cause of the disease. Methods: The clinical data of a child with GSD-IX was collected. Peripheral blood from the child and his parents was collected for genomic DNA extraction. The patient's gene diagnosis was performed by second-generation sequencing. The suspected mutations were verified by Sanger sequencing and bioinformatics analysis. The suspected splicing mutations were verified in vivo by RT-PCR and first-generation sequencing. Results: Hepatomegaly, transaminitis, and hypertriglyceridemia were present in children. Liver biopsy pathological examination results indicated glycogen storage disease. Gene sequencing revealed that the child had a c.285 + 2_285 + 5delTAGG hemizygous mutation in the PHKA2 gene. Sanger sequencing verification showed that the mother of the child was heterozygous and the father of the child was of the wild type. Software such as HSF3.1 and ESEfinder predicted that the gene mutation affected splicing. RT-PCR of peripheral blood from children and his mother confirmed that the mutation had caused the skipping of exon 3 during the constitutive splicing of the PHKA2 gene. Conclusion: The hemizygous mutation in the PHKA2 gene (c.285 + 2_285 + 5delTAGG) is the pathogenic cause of the patient's disease. The detection of the novel mutation site enriches the mutation spectrum of the PHKA2 gene and serves as a basis for the family's genetic counseling.

Recent progress on neuroprotective mechanisms of tanshinone in Alzheimer's disease / 中国药理学通报

Aim Tanshinones, lipophilic diterpenes isolated from the rhizome of Salvia miltiorrhiza, have diverse pharmaco¬logical activities against Alzheimer's disease (AD).Recently tanshinones have been the most widely studied phytochemicals for their neuroprotective effects against experimental models of AI).Recent studies have shown that tanshinones can inhibit choli nest erase activity, regulate generation and aggregation of beta-amyloid, regulate tail phosphorylation and exert anti-inflam¬matory effects, thereby playing a neuroprotective role in AI).'Hie present study aims at reviewing experimental studies and de¬scribing the possible underlying molecular mechanisms by which tanshinones and releated compounds protect against AD.

Identification of Vibrio parahaemolyticus based on the concatenated DNA sequencing of 16S rRNA and gyrB gene / 上海预防医学

Objective:To establish the concatenated DNA sequencing of 16S ribosomal RNA （16S rRNA） and DNA gyrase subunit B （gyrB） gene， and provide evidence for the identification and classification of Vibrio parahaemolyticus （V. parahaemolyticus）. Methods:Typical strains in the genus of Vibrio spp. was selected， such as V. parahaemolyticus， V. alginolyticus and other species for examination of 16S rRNA and gyrB gene as target. Primers were separately designed to amplify these two nucleotide fragments. Phylogenetic analysis was performed using the concatenated sequences. Results:The concatenated 16S rRNA+gyrB nucleotide sequence of V. parahaemolyticus formed a single cluster in the phylogenetic analysis， which identified the typical strains of Vibro spp. at the species level. Conclusion:In our study， an identification method of V. parahaemolyticus is established based on concatenated 16S rRNA+gyrB nucleotide sequencing. It can identify the strains of V. parahaemolyticus at the species level， which may be applied in phylogenetic analysis and contamination tracing of V. parahaemolyticus in food and drug control.

A single-center retrospective analysis of 46 children with aerophagia / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of aerophagia in children.@*MEYJODS@#A retrospective analysis was performed on the medical data of 46 children with aerophagia who were diagnosed and treated in Children's Hospital Affiliated to Nanjing Medical University from October 2011 to September 2019.@*RESULTS@#Among these 46 children, 15 (33%) had Tourette syndrome. Abdominal distension was the most common symptom and was observed in 45 children (98%). The 24-hour esophageal multichannel intraluminal impedance monitoring showed a mean number of 341 times of air swallowing and a mean number of 212 times of gas reflux, and 95% of gas refluxes occurred in the upright body position. Compared with those without Tourette syndrome, the children with Tourette syndrome had a significantly higher incidence rate of air swallowing symptoms (67% vs 6%, P<0.001), but there were no significant differences in other symptoms and the results of 24-hour esophageal impedance. Dietary adjustment, psycho-behavioral therapy, and drug intervention significantly improved the scores of clinical symptoms and quality of life, among which psycho-behavioral therapy was an important intervention measure.@*CONCLUSIONS@#Some children with aerophagia may have Tourette syndrome, and such children are more likely to have air swallowing symptoms. Psycho-behavioral therapy is one of the most important treatment methods, and children with aerophagia tend to have a good prognosis after treatment.

Effect of up-regulation of miR-92a on the proliferation and angiogenesis of non-small cell lung cancer / 临床与实验病理学杂志

Purpose To investigate the effect of down-regulation of miR-92 a on the proliferation and angiogenesis of nonsmall cell lung cancer (NSCLC). Methods Human NSCLC cell A549 was divided into three groups: A549 group (non-transfected A549 cells), sc-siRNA group (A549 cells transfected with sc-siRNA) and miR-92a-siRNA group (A 5 4 9 cells trans-fected with miR-92a-siRNA). The relative expression level of miR-92 a, PTEN and vascular endothelial growth factor (VEGF) in A549 cells and human bronchial epithelial (HBE) cells were detected by RT-PCR and Western blot respectively. The proliferation ability of A549 cells in each group was detected by living cell count and crystal violet staining experiment. Results The relative expression of miR-92 a in A549 cells was significantly higher than that in HBE cells (P < 0.05), the expression level of PTEN protein in A549 cells was significantly lower than that in HBE cells (P < 0.05), and the expression level of VEGF protein was significantly higher than that in HBE cells (P < 0.05).In the miR-92a-siRNA group, the relative expression of miR-92 a decreased (P < 0.05), the expression level of PTEN protein in-creased (P < 0.05), and the expression level of VEGF protein decreased (P < 0.05). The expression levels of PI3 K and Akt in miR-92a-siRNA group decreased (P < 0.05). the number of cells and cell proliferation ability in miR-92a-siRNA group reduced. Conclusion The expression of miR-92 a in NSCLC A549 cells is up-regulated, miR-92 a gene silencing can significantly inhibit cell proliferation and inhibit cell angiogenesis, PTEN and VEGF related PI3K/Akt signaling pathways may play an important role in this process.

Gene identification in a family of hereditary hemorrhagic telangiectasia / 中华血液学杂志

Objective: To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. Methods: A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger. Results: 9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation: c.1502-1503insGG (p.Gly501GlyfsX18) , and mutations in ACVRL1 and SMAD4 genes were not detected. Conclusion: The frameshift mutation c.1502-1503insGG (p.Gly501GlyfsX18) of the ENG gene is the genetic basis for the pathogenesis of this HHT family.

Ilioinguinal approach versus Stoppa approach for open reduction and internal fixation in the treatment of displaced acetabular fractures: A systematic review and meta-analysis / 中华创伤杂志(英文版)

<p><b>PURPOSE</b>To compare the efficacy and safety of open reduction and internal fixation through ilioinguinal approach and Stoppa approach for the treatment of displaced acetabular fractures.</p><p><b>METHODS</b>Case-controlled trials (CCTs) published from January 2010 to August 2015 that compared the ilioinguinal approach and Stoppa approach in the management of displaced acetabular fractures were retrieved from the databases of Cochrane Library, Pubmed, CNKI, and so on. Methodological quality of the trials was critically assessed. Statistical software RevMan 5.0 was used for data analysis.</p><p><b>RESULTS</b>Eight articles were included in the meta-analysis. Through comparing the efficacy and safety of ilioinguinal approach and Stoppa approach in the treatment of displaced acetabular fracture, statistical significance was found in the average operation time [WMD = 68.29, 95% CI (10.52, 126.05), p < 0.05] and the median intraoperative blood loss [WMD = 142.26, 95% CI (9.30, 275.23), p < 0.05]. However, there existed no statistical significance in the fracture end reset satisfaction rate [RR = 0.63, 95% CI (0.17, 2.37), p > 0.05], the early complications rate [RR = 0.89, 95% CI (0.33, 2.40), p > 0.05], the late complications rate [RR = 0.91, 95% CI (0.27, 3.01), p > 0.05], and Harris hip score good function rate [RR = 0.52, 95% CI (0.25, 1.10), p > 0.05].</p><p><b>CONCLUSION</b>Though both techniques can obtain satisfactory clinical functions in the treatment of displaced acetabular fractures, Stoppa approach is superior to the ilioinguinal approach in terms of operation time and intraoperative blood loss.</p>

Effect of tetramethylpyrazine combined with cisplatin on VEGF, KLF4 and ADAMTS1 in Lewis lung cancer mice

OBJECTIVE@#To further explore the function of combine use of tetramethylpyrazine (TMP) and cisplatin (DDP) in lung carcinoma.@*METHODS@#We used the combination drug to treat Lewis lung cancer mice, investigated the expression level of vascular endothelial growth factor (VEGF), Kruppel-like factor 4 (KLF4) and A disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAMTS1) and to further explore the inhibitory effects and potential mechanism of TMP combined with DDP on tumor angiogenesis.@*RESULTS@#The tumor growth was suppressed in TMP group, DDP group and TMP combined with DDP group. Furthermore, the weights and volume of tumor, the expression level of VEGF, KLF4 and ADAMTS1 were found significantly changed between experiment group and control group. These findings suggest that TMP with DDP had additional or synergistic effects to inhibit the tumor growth effectively, might be achieved through reducing the expression of angiogenesis promoting factor VEGF and increasing expression of angiogenesis inhibitors KLF4 and ADAMTS1.@*CONCLUSION@#KLF4 and ADAMTS1 may be synergically involved in the angiogenesis in mouse Lewis lung cancer through the different signal ways.

Quadratus femoris muscle pedicle bone flap transplantation in the treatment of femoral neck fracture for Chinese young and middle-aged patients: A systematic review and meta-analysis / 中华创伤杂志(英文版)

<p><b>PURPOSE</b>To compare the efficacy of quadratus femoris muscle pedicle bone flap transplantation combined with hollow compression screw fixation versus AO hollow compression screw fixation in the treatment of femoral neck fracture for Chinese young and middle-aged patients.</p><p><b>METHODS</b>Case-controlled studies (CCTs) were used to compare the two operative methods in the treatment of femoral neck fractures. Data were retrieved from the Cochrane Library, Pubmed Database, CNKI, Chinese Biomedical Database. Wanfang Data published during the period of January 2005 to December 2014. Methodological quality of the trials was critically assessed, and relevant data were extracted. Statistical Software Revman 5.0 was used for data-analysis.</p><p><b>RESULTS</b>Eight articles were included in the meta-analysis. The results showed that there was statistical significance in the rate of fracture healing [OR = 5.43, 95% CI (2.89, 10.20), p < 0.05], the rate of good function of hip joint [OR = 5.12, 95% CI (3.21, 8.17), p < 0.05], the rate of femoral head necrosis [OR = 4.21, 95% CI (2.02, 8.76), p < 0.05], the time of fracture healing [WMD = -46.85, 95% CI (-65.13, -28.56), p < 0.05] between the two groups.</p><p><b>CONCLUSIONS</b>For the treatment of femoral neck fractures, the transplantation of quadratus femoris muscle pedicle bone flap combined with hollow compression screw; fixation is superior to the AO hollow compression screw fixation in terms of the rate; of fracture healing, the rate of good function of hip joint, the rate of femoral head; necrosis and the time of fracture healing.</p>

Effect of tetramethylpyrazine combined with cisplatin on VEGF, KLF4 and ADAMTS1 in Lewis lung cancer mice

Objective To further explore the function of combine use of tetramethylpyrazine (TMP) and cisplatin (DDP) in lung carcinoma. Methods We used the combination drug to treat Lewis lung cancer mice, investigated the expression level of vascular endothelial growth factor (VEGF), Kruppel-like factor 4 (KLF4) and A disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAMTS1) and to further explore the inhibitory effects and potential mechanism of TMP combined with DDP on tumor angiogenesis. Results The tumor growth was suppressed in TMP group, DDP group and TMP combined with DDP group. Furthermore, the weights and volume of tumor, the expression level of VEGF, KLF4 and ADAMTS1 were found significantly changed between experiment group and control group. These findings suggest that TMP with DDP had additional or synergistic effects to inhibit the tumor growth effectively, might be achieved through reducing the expression of angiogenesis promoting factor VEGF and increasing expression of angiogenesis inhibitors KLF4 and ADAMTS1. Conclusion KLF4 and ADAMTS1 may be synergically involved in the angiogenesis in mouse Lewis lung cancer through the different signal ways.