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.

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.

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.

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>

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.

Effects of VPA on the Expression of Notch Signaling Pathway in Multiple Myeloma RPMI 8226 Cell Line / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the effects of valproic acid(VPA) on the expression of intracellular domain of Notch1 (ICN1) and Hes1 in multiple myeloma RPMI 8226 cell line.</p><p><b>METHODS</b>Experiments were divided into 4 group: blank control group and groups of cells treated with VPA of different concentration (2, 4, 8 mmol/L), the cell proliferation was detected by MTT method, RT-PCR was applied to detect the mRNA expression level of ICN1 and Hes1. Western blot was used to detect the protein expression of ICN1 and Hes1.</p><p><b>RESULTS</b>The proliferation of the RPMI 8226 cell was obviously inhibited by different concentration of VPA (2, 4, 8 mmol/L) at the same time. The same concentration of VPA was used to treat RPMI8226 cell for different time (24, 48, 72 h), the cell proliferation was obviously inhibited. Compared with control group, the mRNA and protein expression of ICN1 was significantly depressed at different concentration of VPA(2, 4, 8 mmol/L) for 48 h (P<0.05). Compared with control group, the mRNA and protein expression of Hes1 was depressed at different concentration 2, 4, 8 mmol/L)of VPA for 48 h (P<0.05).</p><p><b>CONCLUSION</b>VPA inhibits the proliferation of the RPMI 8226 cell in a time- and dose- dependent manner; VPA down-regulates the mRNA and protein expression level of ICN1 and Hes1 in RPMI8226 cell; thus VPA might inhibit cell proliferation possibly through the inhibition of Notch signaling pathway in multiple myeloma cells.</p>

Value of Multiparameter Flow Cytometry in Diagnosis of Non-Hodgkin's Lymphoma / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore the value of multiparameter flow cytometry in diagnosis of non-Hodgkin's lymphoma (NHL).</p><p><b>METHODS</b>Twenty patients with NHL admitted in Traditional Chinese Medicine Hospital of Zhengzhou from January 2009 to August 2014 years were enrolled into this study, among them 13 cases received lymnode puncture, 2 cases were given bone marrow aspiration, 2 cases received peripheral blood examination, 3 cases suffered lymphnode biopsy.</p><p><b>RESULTS</b>After FCM immune typing and cytological smear, 6 cases was confirmed to be B-SLL, 1 case was B-NHL, 1 case was FL, 5 cases was DLBCL, 2 cases was T-NHL, 3 cases was T-LBL, 1 case was NK/T-NHL, 1 case was PTun.</p><p><b>CONCLUSION</b>Multiparameter flow cytometry is valuable for diagnosis of non-Hodgkin's of lymphoma.</p>

Percutaneous poking reduction and fixation versus open reduction and fixation in the treatment of displaced calcaneal fractures for Chinese 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 percutaneous poking reduction and fixationwith open reduction and fixation in the treatment of displaced calcaneal fractures.</p><p><b>METHODS</b>Reports of studies using case-controlled trials (CCT) to compare the percutaneous poking reduction and fixation with the open reduction and fixation in the management of calcaneal fractures were retrieved from the Cochrane Library, PubMed Database, CNKI, Chinese Biomedical Database, Wanfang Data (from January of 2005 to August of 2015). 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>Fifteen articles were included in the meta-analysis. Comparison of the efficacy of percutaneous poking reduction and fixation with open reduction and fixation in the treatment of calcaneal fractures revealed statistical significance in the incidence of complications after operation [RR = 0.32, 95% CI (0.20, 0.5), p < 0.05]. However, there were neither statistical significance in the degrees of recovery for calcaneal Bohler angle [WMD = -1.65, 95% CI (-3.43, 0.14), p > 0.05] and calcaneal Gissane angle [WMD = -3.21, 95% CI (-6.75, 0.33), p > 0.05], nor statistical significance in the rate of good foot function after operation [RR= 0.95, 95% CI (0.90, 1.00), p > 0.05].</p><p><b>CONCLUSION</b>For the treatment of calcaneal fractures, percutaneous poking reduction and fixation is su- perior to open reduction and fixation in terms of the incidence of postoperative complications. But both techniques can obtain satisfactory clinical function.</p>

Penile metastasis from rectal carcinoma: a case report and literature review / 中华男科学杂志

<p><b>OBJECTIVE</b>To improve the diagnosis and treatment of penile metastasis from rectal carcinoma.</p><p><b>METHODS</b>We reported a case of penile metastasis secondary to rectal adenocarcinoma, reviewed the relevant literature, and discussed the common origins, clinical features, pathogenic mechanisms, diagnosis and treatment of this disease.</p><p><b>RESULTS</b>The patient was a 54-year-old male, with metastatic penile tumors secondary to rectal adenocarcinoma, with serious adhesion to the surrounding tissue and metastasis to the liver. As treatment, we performed colostomy to relieve voiding difficulty, followed by combination chemotherapy with oxaliplatin, 5-fluorouracil, and levofolinate. The patient died 10 months later as a result of systemic failure.</p><p><b>CONCLUSION</b>Penile metastatic malignancy has a poor prognosis. Early diagnosis and combined and individualized therapies may improve the quality of life, relieve pain and prolong the life of the patient.</p>

Effects of bromopropane exposure on expression of DNA methyltransferases and level of histone acetylation in testis of male rats / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the changes in the expression of DNA methyltransferases (DNMTs) and activities of histone acetyltransferase (HAT) and histone deacetylase (HDAC) in the testis of male rats exposed to bromopropanes (BPs).</p><p><b>METHODS</b>Twenty-seven male rats were randomly divided into three groups to be intraperitoneally injected with 1-BP,2-BP, or corn oil (as a control) for two weeks. The sperm count and morphology in the epididymis were evaluated. The mRNA expression of DNMT1, DNMT3a, and DNMT3b and activities of HAT and HDAC in the testis were measured by quantitative real-time PCR and ELISA.</p><p><b>RESULTS</b>Compared with the control group, the BP exposure groups showed significant decreased absolute and relative sperm counts; the proportion of tailless sperm increased in the 1-BP exposure group, while the proportion of sperm with abnormal heads increased in the 2-BP exposure group. The 2-BP exposure group had significantly lower mRNA expression of DNMT1, DNMT3a, and DNMT3b than the control group (P < 0.05). There were no significant differences in the activities of HAT and HDAC between the control group and 1-BP exposure group; the 2-BP exposure group showed significantly higher HAT activity than the control group (P < 0.05), but no significant difference was found in HDAC activity between them.</p><p><b>CONCLUSION</b>Exposure to 2-BP might induce abnormal DNA methylation and histone acetylation, and epigenetic regulation might play an important role in the reproductive toxicity of 2-BP.</p>

The clinical classification method research of keloid / 中华整形外科杂志

<p><b>OBJECTIVE</b>To explore the clinical classification method of keloids and providing a thread for the treatment of keloids.</p><p><b>METHODS</b>To summarize the 600 cases of keloid patients we accepted and diagnosed from November 2004 to October 2012, and filling in keloid patients information sheet, recording the keloids form by photographs, analyzing the treatment, putting forward the classification method of keloids in clinic.</p><p><b>RESULTS</b>According to the position and quantity that keloids grow, the keloid patients are divided into four major categories:one in single site, one in each site, more than one in single site and more than one in each site; According to the area and thickness of keloids, the keloid single lesion is divided into four subclasses: type of small area and thin, type of small area and thick, type of large areas and thin,type of large areas and thick; According to the number of lesions, keloid multiple lesions is divided into two subgenera: isolated multiple and dispersion multiple, different kinds of keloids suit different methods of treatment.</p><p><b>CONCLUSION</b>The clinical classification method of keloids can be used to provide thought for the treatment of keloids, and have a good application value.</p>

Effect of valproic acid against angiogenesis of Kasumi-1 xenograft tumor in nude mice / 中国实验血液学杂志

This study was aimed to investigate the effect of valproic acid (VPA), a histone deacetylase inhibitor, on angiogenesis of acute myeloid leukemia in vivo and vitro, and to explore its molecular mechanism. Human t (8;21) AML cell line Kasumi-1 cells were treated with VPA at different concentration for 3 d, the mRNA and protein expression levels of Ang1 and Ang2 were determined by semi-quantitative RT-PCR and Western blot respectively. Nude mice model with xenograft Kasumi-1 tumor was established by subcutaneous inoculation of Kasumi-1 cells. The CD34, Ang1 and Ang2 protein levels were analyzed by immunohistochemistry method. The mRNA and protein expression levels of Ang1, Ang2 and VEGF were determined by semi-quantitative RT-PCR and Western blot. The results showed that in vitro, VPA at 3 mmol/L downregulated the Ang mRNA relative expression level for Ang1 from 0.360 ± 0.116 to 0.040 ± 0.008, Ang2 from 0.540 ± 0.049 to 0.146 ± 0.038. The animal experiment further verified that VPA 500 mg/kg, ip, for 14 d, reduced the relative expression of Ang1, Ang2 and VEGF mRNA and proteins in Kasumi-1 tumor of nude mice, and reduced microvascular density in xenograft tumor of nude mice (8.470 ± 0.300 vs 2.600 ± 0.200). It is concluded that VPA significantly inhibits tumor angiogenesis through the regulation of angiopoietins, thereby inhibits the proliferation and metastasis of leukemia cells.

Effect of endostar combined with cisplatin on expression of VEGF and Sema3A of Lewis lung cancer rats

OBJECTIVE@#To evaluate the therapeutic effect of endostar (ED) combined with cisplatin(DDP) on model of C57BL/6 rats, and to further investigate the inhibiting mechanism of endostar from tumor angiogenesis.@*METHODS@#Lewis lung cancer cells were inoculated in C57BL/6 mouse, then the mouse were randomized into control group (group A), ED (group B), DDP (group C) and ED/DDP (group D). They were treated according to the plan. And the expressions of VEGF and Sema3A were evaluated by immunhistochemisty.@*RESULTS@#The weight of tumor increased in group A and B. It was decreased in group C and D. The tumor volume was increased in all the 4 groups. The VEGF expression of group D was obviously lower than the other group 3, but the Sema3A expressed of group D was significantly strengthener than the other group 3. The VEGF expression of group B and group D were obviously low especially in the 4th-8th days. Pearson correlated analysis showed that the expression VEGF and Sema3A were negatively correlated (r=-0.72, P<0.05).@*CONCLUSIONS@#ED combined with DDP could control the tumor growth effectively, and avoid weight loss. ED could reduce VEGF expression, and enhance Sema3A expression. Tumor vessel presents transient normalization. It is easy for DDP perfusion, and to kill tumor cells.

Relationship of childhood physical abuse and internet addiction disorder in adolescence: the mediating role of self-esteem / 中华流行病学杂志

Objective To find out whether the effects of childhood physical abuse on internet addiction disorder in adolescence could be mediated by self-esteem.Methods 3798 high school students selected from 76 classes in Grade One and Grade Two,were asked to fill in the anonymous questionnaire,which including the demographic characteristics of students,Young' s Internet Addiction Scale,Parent-Child Conflict Tactics Scales and Rosenberg' s Self-Esteem Scale.Results Childhood physical abuse could directly predict less self-esteem and internet addiction disorder (r=-0.108,P＜0.01,r=0.057,P＜0.01 ) and had significant indirect effects on intemet addiction disorder which could be mediated through self-esteem (a=-0.703,standardized b=-0.104,z=5.052,P＜0.001 ).Self-esteem had mediated 22.5％ of the childhood physical abuse cases on their internet addiction disorders during the period of adolescence.Conclusion Self-esteem could partially mediate the relationship between childhood physical abuse and internet addiction disorder.The mediating roles of self-esteem suggested that salient leverage points could make a change through empowerment training,self-esteem group training on self-esteem enhancement in the stage of adolescence.

Cellular toxicity of isoniazid together with rifampicin and the metabolites of isoniazid on QSG-7701 hepatocytes

OBJECTIVE@#To investigate the cellular toxicity of isoniazid together with rifampicin and the metabolites of isoniazid on cultured QSG-7701 cells lines.@*METHODS@#Isoniazid, rifampicin, mixture of rifampicin and isoniazid, acetylhydrazine, hydrazine were added in cultural media of QSG-7701 cells and cultured for 48 hours. The survival rate of cells was determined by MTT method. The cultural media and cells were collected and the activity of lactate dehydrogenase was detected by chromatometry.@*RESULTS@#Compared with control group, the survival rate decreased significantly and the lactate dehydrogenase released from cell increased significantly in cells treated with isoniazid, rifampicin, acetylhydrazine, hydrazine. Hydrazine, the metabolite of isoniazid produced significant damage on hepatocytes in low concentration.@*CONCLUSIONS@#Rifampicin together with rifampicin and metabolites of isoniazid produce cellular toxic effects and hydrazine may be the most toxiferous metabolite.

Diagnostic value of tumor marker pro-gastrin-releasing peptide in patients with small cell lung cancer: a systematic review / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Lung cancer is one of the most common malignancies in the world and one of the leading cancers that result in death. The aim of this study was to evaluate and compare the diagnostic value of the serum tumor marker pro-gastrin-releasing peptide 31-98 (ProGRP31-98) to pathological diagnosis as reference standard in patients with suspected small cell lung cancer (SCLC).</p><p><b>METHODS</b>Literature searches covering 1978 through to 2009 were performed in Pubmed, OVID, MEDLINE, EMbase, Cancerlit, China National Knowledge Infrastructure (CNKI), and CBM using the key search words; 'small cell lung cancer', 'tumor marker', 'ProGRP31-98' and 'diagnostic tests', 'ELISA', 'EIA' and 'diagnostic accuracy'. Studies were collected and data analyzed to evaluate the diagnostic value of serum ProGRP31-98 levels for the diagnosis of SCLC compared with pathology. Eligibility criteria for inclusion in the analysis were based on criteria for diagnostic research published by the Cochrane Screening and Diagnostic Tests</p><p><b>METHODS</b>Group (SDTMG). The characteristics of the included articles were appraised and the data were extracted from the original articles for further statistical analysis of study heterogeneity using Review Manager 4.2 software. Based on study heterogeneity analysis, a suitable 'effect' model was selected to calculate pooled sensitivity and specificity by meta-analysis. A Summary Receiver Operating Characteristic (SROC) curve and the area under the curve (AUC) were generated and sensitivity analysis conducted.</p><p><b>RESULTS</b>A total of 22 articles were entered into this meta-review, including 11 English articles with a quality at level C. In total, the studies involved 6759 subjects, of which 1470 were diagnosed with SCLC by pathology, and 5289 subjects diagnosed with non-SCLC (NSCLC). The meta-analysis showed that heterogeneity among studies was high (P = 0.00001, I(2) = 86.8%). With ELISA, the pooled sensitivity was 0.72 (0.70 to 0.75 at 95%CI) and the pooled specificity was 0.93 (0.92 to 0.94 at 95%CI); the SROC and the AUC were 0.8817. These data suggest that ProGRP31-98 has a relatively high rate of missed diagnosis (28%), but a relatively low rate of misdiagnosis (7%).</p><p><b>CONCLUSION</b>From meta-analysis, we concluded that serum ProGRP31-98 is a valuable marker with a high specificity for diagnosis of SCLC with a similar diagnostic accuracy to pathology.</p>

Report of a case with Johanson-Blizzard syndrome and literatures review / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome.</p><p><b>METHOD</b>The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed.</p><p><b>RESULT</b>A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%).</p><p><b>CONCLUSION</b>Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis.</p>