Clinical and genetic analysis of a family with autosomal dominant-familial Mediterranean fever / 中华医学遗传学杂志

OBJECTIVE@#To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF).@*METHODS@#A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever with headache and vomiting. His family members including his mother, sister and brother also had recurrent fever. A genetic disease was considered. DNAs were extracted from patient and all his family members' blood samples. Whole exome sequencing was performed to identify putative pathogenic variants that can explain this family's condition and Sanger sequencing was conducted. The impact of detected variants were predicted and validated by bioinformatics.@*RESULTS@#A missense variant c.2229C>G (p.Phe743Leu) in MEFV gene was identified in the proband and his family members including his mother, sister and brother. This variant had not been reported in China previously, but the locus of it had already been reported in Arabic patient with AD-FMF (PS1). This variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on Mutationtaster, PROVEAN and PolyPhen-2. In addition, the change of amino acid, locating in 743 locus of pyrin protein, encoding by MEFV gene, was found to cause SPRY_PRY_TRIM20 and SPRY_superfamily domain destroyed and finally influenced the fuction of pyrin protein. On the other hand, using UCSF chimera software, we find the variant c.2229C>G (p.Phe743Leu) can induce serious influence to the spatial structure of pyrin protein and loss of protein fuction (PP3). According to the ACMG variant classification guideline, the variant c.2229C>G (p.Phe743Leu) in MEFV gene was classified as likely pathogenic (PS1+PM2+PP3).@*CONCLUSION@#The condition of this AD-FMF family may be attributed to the missense variant c.2229C>G (p.Phe743Leu) in MEFV gene. The recurrent aseptic meningitis was a very rare manifestation in AD-FMF patients and had not been reported in China previously. The clinical and genetic findings of the present study are helpful for the further understanding of AD-FMF.

Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy / 中华医学遗传学杂志

Objective@#To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD).@*Methods@#The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient’s condition.@*Results@#The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c. 960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c. 960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, β-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c. 467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software.@*Conclusion@#The patient’s condition may be attributed to the compound heterozygous c. 467G>A (p.Gly156Asp) and c. 960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.

Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD).@*METHODS@#The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient's condition.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c.960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, β-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c.467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software.@*CONCLUSION@#The patient's condition may be attributed to the compound heterozygous c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.

Analysis of HEXB gene mutations in an infant with Sandhoff disease / 中华医学遗传学杂志

Objective@#To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD).@*Methods@#Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations.@*Results@#The infant was found to carry compound heterozygous mutations c. 1652G>A(p.Cys551Tyr) and c. 1389C>G (p.Tyr463*) of the HEXB gene. The c. 1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c. 1652G>A(p.Cys551Tyr)mutation, unreported previously, was predicted to be probably damaging by Bioinformatic analysis.@*Conclusion@#Compound heterozygous mutations c. 1652G>A(p.Cys551Tyr) and c. 1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.

Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a / 中华医学遗传学杂志

OBJECTIVE@#To identify potential mutation of PMM2 gene in an infant with congenital disorders of glycosylation type 1a (CDG-1a).@*METHODS@#Genomic DNA was extracted from peripheral blood sample of the patient. All coding exons (exons 1-8) and splicing sites of the PMM2 gene were amplified with PCR. Potential variants were detected by direct sequencing of the PCR products and comparing the results against the ESP and SNP human gene databases. A protein BLAST system was employed to analyze cross-species conservation of the variants amino acid. A PubMed BLAST CD-search system was employed to identify functional domains damaged by variants of the PMM2 gene. Impact of potential variants was analyzed using software including PolyPhen-2 SIFT and Mutation Taster. Whole exome sequencing was used to identify additional variants of the PMM2 gene which may explain the condition of the patient.@*RESULTS@#The child was found to carry compound heterozygous variants (c.458_462delTAAGA and c.395T>C) of the PMM2 gene, which were inherited respectively from his father and mother. The c.458_462delTAAGA has not been reported previously and may result in disruption of 10 functional domains within the PMM2 protein. The c.395T>C mutation has been recorded by a SNP database with frequency unknown. Both mutations were predicted as "probably damaging". Whole exome sequencing has identified no additional disease-causing variant which can explain the patient's condition.@*CONCLUSION@#The patient's condition may be attributed to the compound heterozygous variants c.458_462delTAAGA and c.395T>C of the PMM2 gene. Above results has facilitated molecular diagnosis for the patient.

Analysis of HEXB gene mutations in an infant with Sandhoff disease / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD).@*METHODS@#Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations.@*RESULTS@#The infant was found to carry compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) of the HEXB gene. The c.1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c.1652G>A(p.Cys551Tyr) mutation, unreported previously,was predicted to be probably damaging by Bioinformatic analysis.@*CONCLUSION@#Compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.

Anxiety and depression status of coal miners and related influencing factors / 中华劳动卫生职业病杂志

Objective@#To analyze the anxiety and depression status of coal miners and related influencing factors, and to provide justifications for occupational health protection.@*Methods@#From April 2017 to June 2017, a total of 650 coal miners in a mining area in Shanxi, China were enrolled; The coal miners were evaluated for their anxiety and depression status using the Hamilton Anxiety Rating Scale (14 items) and the Hamilton Depression Rating Scale (17 items) , respectively. The related influencing factors for anxiety and depression of the coal miners were analyzed with nonparametric test, chi-square test, and logistic regression.@*Results@#The incidence rates of anxiety and depression were 51.1% and 60.5%, respectively. As suggested by the scores and detection rates of anxiety and depression, males had significantly higher anxiety and depression scores than females (P<0.05) ; subjects in older-age groups and those working in shifts had significantly higher anxiety scores (P<0.05) ; subjects with higher education degrees and smokers had significantly higher depression scores (P<0.05) ; while subjects with longer length of service, those with poor sleep quality, and those working in the underground mines had both significantly higher anxiety and depression scores (P<0.05) . The detection rate of anxiety was significantly higher in subjects with a drinking habit than in those who did not drink (P<0.05) . The detection rate of depression was significantly higher in subjects with hypertension than in those with normal blood pressure (P<0.05) . A multivariate logistic regression analysis showed that work type and length of service were related to anxiety; gender and length of service were related to depression; length of service was positively correlated with both anxiety and depression.@*Conclusion@#The anxiety and depression in coal miners and related influencing factors should be taken seriously. Gender, age, length of service, working in shifts, education degree, smoking, sleep quality, underground working environment, and hypertension may be risk factors for anxiety and depression in coal miners.

Exploration of high-throughput sequencing method in severe pneumonia pathogens detection / 中华检验医学杂志

Objective To establish the pipeline and evaluate the feasibility of high-throughput sequencing method used in the detection of severe pneumonia pathogens.Methods Clinical control study was used.Bronchi alveolar lavage fluids (BALF) samples from 76 patients with severe pneumonia (treatment group) and 18 patients with tracheal malacia (control group) and without clinical detected pathogens were collected during March 2015 to December 2016 in Shenzhen Children′s Hospital.The pathogens in the samples were detected using clinical tests and high-throughput sequencing respectively.The results of high-throughput sequencing were confirmed by real-time quantitative PCR and the high-throughput sequencing method used in the detection of severe pneumonia pathogens was evaluated.The χ2 test was used to analyze the correlation of detection rate between the high-throughput sequencing group and the non high-throughput sequencing group.Results The pipeline and method of high-throughput sequencing used in the severe pneumonia pathogens detection was established.The pipeline included sample collection, DNA extraction, library construction, sequencing, and bioinformatic analysis.In 76 cases of patients with severe pneumonia, the results of high-throughput sequencing in 66 cases of bronchoalveolar lavage fluid specimens were positive.The sensitivity was 86.84%, which was significantly higher than the total sensitivity of traditional clinical detection methods including bacterial culture, immunofluorescence and quantitative PCR(68.42%,52/76),χ2=7.426,P<0.001.A total of 13 pathogens were detected in 66 positive samples of high-throughput sequencing, including Mycoplasma pneumoniae, Streptococcus pneumoniae, Haemophilus influenzae and adenovirus, etc.Nine kinds of pathogens were detected in these samples through non-high-throughput sequencing.In the experimental group, the results obtained by clinical test and high-throughput (80.26%) were entirely consistent in 61 samples and not completely consistent in 15 samples (19.74%) specimens.These inconsistent results were mainly concentrated in the detection of adenovirus, Streptococcus pneumoniae and Haemophilus influenzae through high-throughput sequencing, whereas clinical cultures and immunofluorescence methods were not able to detect these pathogens.PCR validation showed that there was no significant difference between the results of high-throughput sequencing and the PCR tests (χ2=0.517,P=0.472), and the difference between the results of high-throughput sequencing and traditional clinical detection methods was statistically significant (χ2=11.671,P<0.001).Conclusion The method for the detection of severe pneumonia pathogens based on high-throughput sequencing is highly sensitive and can detect unknown pathogens, which is superior to those used in traditional clinical detection.

Infantile Sandhoff disease:a case report and literature review / 临床儿科杂志

Objective To summarize the clinical manifestations, diagnosis, and treatment of infantile Sandhoff disease. Methods The clinical data of one case with infantile Sandhoff disease were reviewed retrospectively. The related literatures were reviewed. Results The girl aged 1 year and 2 months suffered from psychomotor regression and intractable convulsions. The parents were consanguineous marriage. The fundus microscopy showed fundus erythema. Brain magnetic resonance imaging showed an abnormal signal of long T2WI and identical T1WI at left pons, white matter edema, and diffuse demyelination. No abnormal karyotype was observed. A chromosome microarray suggested multiple large homozygous chromosomes segments. The second generation gene sequencing showed deletion of c.1263_1268delTGAAGT:P. (Glu422_Val423del) deletion in exon 11 and a shear mutation of c.1614_2A>G:P? in intron 13 of HEXB gene which were carried by her parents respectively . The activity of HexA, HexA & HexB were 84 and 112 nmol?mg?1?h?1, respectively. Finally, this girl was diagnosed of infantile Sandhoff's disease. After treatment with valproate, levetiracetam combined with antiepileptic and glucocorticoids, episodes of convulsions were decreased gradually, and the reaction was better than before. In 5 months of follow up, the condition was stable, and no progression and no seizures exist. Her mother got pregnant again and received an amniocentesis on her 21+6 weeks of pregnancy, and results suggest that the fetus had the same mutation as this girl. Conclusions Sandhoff's disease is a type of rare hereditary lysosomal disease, characterized by progressive neurological impairment. Currently there are no effective treatments. Genetic testing is helpful in the diagnosis and prenatal diagnosis.

Clinical Study on the Intervention of Gastric Compound for Patients with Middle-late Gastric Cancer of Spleen Deficiency and Stasis Toxin / 中国中医药信息杂志

Objective To evaluate the effect of gastric compound on patients with middle-late gastric cancer of spleen deficiency and stasis toxin. Methods Ninety patients with middle-late gastric cancer of spleen deficiency and stasis toxin were randomly divided into combined group, chemotherapy group, and gastric compound group, 30 cases in each group. Patients in the combined group were treated with gastric compound and chemotherapy;patients in the chemotherapy group were treated with placebo;patients in the gastric compound group were treated with gastric compound. The changes of QLQ-C30 scale integral, fatigue scale intergral, TCM symptom intergral, Karnofsky integral, and toxic and side effects of digestive tract and myelosuppression were observed to evaluate the effect of gastric compound on quality of life in patients. Results The changes of QLQ-C30 scale integral, fatigue scale intergral, TCM symptom intergral, Karnofsky intergal in combined group were better than those in chemotherapy group and gastric compound group, with statistical significance (P<0.05). The changes of fatigue scale intergral and TCM symptom intergral in gastric compound group were better than those in chemotherapy group, with statistical significance (P<0.05). The myelosuppression and toxic and side effects of digestive tract of combined group was lighter than those of chemotherapy group, with statistical significance (P<0.01). Conclusion Gastric compound combined with chemotherapy can improve quality of life in patients with middle-late gastric cancer of spleen deficiency and stasis toxin, and reduce myelosuppression and toxic and side effects of digestive tract.

Effect of Activating Blood to Resolve Stagnation on Cells Expressing CD34 and Vascular Endothelial Growth Factor in Rats with Acute Myocardial Infarction / 中国康复理论与实践

@#Objective To explore the effect of Activating Blood to Resolve Stagnation on the expression of CD34 and vascular endothelial growth factor (VEGF) in rats with acute myocardial infarction. Methods 32 Sprague-Dawley rats were randomly divided into sham operation group (A, n=8), model group (B, n=8), Xuesaitong Injection + granulocyte colony- stimulating factor (G- CSF) group (C, n=8) and G-CSF group (D, n=8). Corresponding medicine was given to each group 3 hours after modeling, for 6 days. Pathomorphological changes were observed through HE staining, and the expression of CD34, VEGF and Ki-67 were observed through immunohistochemical staining. Results The expressions of CD34, VEGF and Ki-67 were higher in groups B, C and D than in group A (P<0.05), and were higher in group groups C and D than in group B (P<0.05). The expressions of CD34 and VEGF were higher in group C than in group D (P<0.05). However, there was no significant difference in the expression of Ki-67 between 2 groups (P>0.05). Conclusion The expression of CD34 and VEGF increases with Activating Blood to Resolve Stagnation method, which is superior to using G-CSF only. Activating Blood to Resolve Stagnation may play an important role in the treatment of acute myocardial infarction.

Effect of Activating Blood to Resolve Stagnation on Cells Expressing CD34 and Vascular Endothelial Growth Fac-tor in Rats with Acute Myocardial Infarction / 中国康复理论与实践

Objective To explore the effect of Activating Blood to Resolve Stagnation on the expression of CD34 and vascular endotheli-al growth factor (VEGF) in rats with acute myocardial infarction. Methods 32 Sprague-Dawley rats were randomly divided into sham opera-tion group (A, n=8), model group (B, n=8), Xuesaitong Injection + granulocyte colony-stimulating factor (G-CSF) group (C, n=8) and G-CSF group (D, n=8). Corresponding medicine was given to each group 3 hours after modeling, for 6 days. Pathomorphological changes were observed through HE staining, and the expression of CD34, VEGF and Ki-67 were observed through immunohistochemical staining. Re-sults The expressions of CD34, VEGF and Ki-67 were higher in groups B, C and D than in group A (P0.05). Conclusion The expression of CD34 and VEGF in-creases with Activating Blood to Resolve Stagnation method, which is superior to using G-CSF only. Activating Blood to Resolve Stagna-tion may play an important role in the treatment of acute myocardial infarction.

Surgical management of primary small cell carcinoma of the esophagus / 中国肿瘤临床

Objective:To retrospectively analyze the survival outcomes of the surgical management of primary small cell carcino-ma of the esophagus. Methods:The medical records were reviewed for patients diagnosed with esophageal carcinoma and underwent esophagectomy from January 2000 to December 2009 at the Department of Thoracic Surgery of the Henan Cancer Hospital. We fo-cused on the clinical data of patients with small cell carcinoma of the esophagus. The Kaplan-Meier approach with log-rank test was used for survival analysis. Results:A total of 5,062 patients underwent esophagectomy with curative intent at the Department of Thorac-ic Surgery of the Henan Cancer Hospital;among which, 57 (1.1%) were diagnosed with small cell carcinoma of esophagus. The most common surgical approach was trans-left thoracic incision esophagectomy. Cervical esophagogastrostomy was performed for all pa-tients. The most common chemotherapy regimen was EP. The overall 5-year survival rate was 12.5%, and the median survival time was 45 months. Among the various stages, the 5-year survival rate and survival time were 25% and 50 months for Stage I, 5.9% and 43 months for Stage II, and 4.3%and 43 months for StageⅢ. Subgroup analysis showed that cases treated with surgery alone had poorer overall median survival time compared with those cases that underwent surgery plus chemotherapy (23.2 months vs. 60.7 months, re-spectively;P<0.01). Even for Stage I patients, thesurgery plus chemotherapysubgroup was associated with a significantly longer me-dian survival time than the surgery alone subgroup (81.9 months vs. 22.3 months, P<0.01). Conclusion:For patients with primary small cell carcinoma of the esophagus, surgery alone cannot provide the optimal prognosis. Surgery combined with systemic chemother-apy can improve the survival time.

Neuroprotective effect of glucagon-like peptide-1 receptor activation in cerebral ischemia / 国际脑血管病杂志

Glucagon-like peptide 1(GLP-1) is an important member of incretin.Takingitoralymay stimulate the terminal ileum and colon L cel s to secrete GLP-1. After GLP-1 biding specific receptor GLP-1 receptor ( GLP-1R), it exerts the roles of promoting glucose-dependent insulin secretion, inhibiting glucagon secretion, and decreasing plasma glucagon level. The molecular mass of GLP-1 is relatively smal er and can directly cross the blood-brain barrier, and both central and peripheral nervous systems have the GLP-1R expression. GLP-1 significantly improves neurological deficits and reduces infarct volume. It may exert neuroprotective effect through the mechanisms of inhibiting the inflammatory response, oxidative stress, and cel apoptosis. This article review s the discovery of GLP-1, its biological characteristics and neuroprotective effect in cerebral ischemia.

Analysis of precancerous conditions and lesions of high-risk population in the high-incidence area of esophageal cancer in Ci County / 中国肿瘤临床

Objective:To investigate the distribution of precancerous conditions and lesions of high-risk population in the high-in-cidence area of esophageal cancer in Ci County, Hebei Province. Methods:Esophageal cancer was detected early in 40 to 69 year old patients in Ci Xian through endoscopic screening data and endoscopic screening using iodine staining and indicative biopsy. The pa-tients were classified according to gender, age group, statistical esophageal precancerous condition, and lesion detection rate. Results:The analysis included 11 423 cases by screening queue, and the esophageal biopsy rate was 66.90%. The detection rates of squamous epithelium with mild, moderate, and severe dysplasia were 11.84%, 2.66%, and 1.04%, respectively. DCIS detection rate was 0.40%in patients with squamous cell carcinoma. The detection rate of the patients had been infiltrated by the squamous cell carcinoma was 0.04%.The rate of the squamous cell carcinoma within the mucosa was 0.37%.The rate of the infiltration squamous cell carcinoma was 0.17%. The detection rate of the hyperplasia above average severe dysplasia and cancer was 2.01%. Conclusion: High incidence of esophageal precancerous lesions was found in the Ci County aged 40 to 69. A large number of asymptomatic patients with cancer were detected. Age and sex are closely related to detection rate.

Effect of bone marrow mesenchymal stem cells on inflammatory factors released by LPS-stimulated BV-2 microglia / 实用医学杂志

Objective To explore the effect of bone marrow mesenchymal stem cells (MSCs) on LPS-stimulated BV2 microglia in inflammatory reaction. Methods Mouse MSCs were isolated and purified by adherence screening. The routinely cultured BV2 microglia in vitro were divided into PBS control group (group A),PBS plus MSCs treatment group(group B),LPS stimulation group(group C) and LPS plus MSCs group(group D).MSCs and BV2 microglia were cultured in the transwell co-culture system for 24 hours. We observed BV2 microglia morphological changes under the microscope,detected the concentrations of NO by Griess reaction,and the level of IL-1β,TNF-αby ELISA. Results MSCs can improve the morphology of activated microglia. The concentrations of TNF-a, IL-1βand N0 in culture supernatants were increased significantly (P < 0.05) after microglia activation, however, at the present of MSCs,the concentration of these inflammatory factors declined dramaticly (P<0.05). Conclusions MSCs can significantly inhibit the activation of microglia. It may play a neuroprotective effect by reducing the inflammation of microglia. MSCs showing anti-inflammatory effects through non-direct contact with nicroglial, suggesting that MSCs outside the brain may also inhibit the activation of microglia.

Expression changes in apoptosis-related microRNA in cerebral cortex after cardiopulmonary resuscitation in rat models of cardiac arrest induced by asphyxia / 中国中西医结合急救杂志

Objective To observe the expression changes in apoptosis-related microRNA(miRNA) in cerebral cortex after cardiac arrest-cardiopulmonary resuscitation(CA-CPR)in rats and explore the factors that may affect the mechanism of CPR. Methods 24 clean male Sprague-Dawley(SD)rats were randomly divided into three groups,the normal control group,sham operation group and CA-CPR group(each n=8). The animal model of CA induced by asphyxia was established and CPR was performed. In the normal control group,no special management was performed. In the sham operation group,only abdominal cavity anesthesia,tracheotomy,vascular puncture and electrocardiogram(ECG)were performed without clamping the trachea and resuscitating. Normal feeding in normal control group and 24 hours after tracheotomy in sham operation group,at 24 hours after recovery of spontaneous circulation(ROSC)in CA-CPR group,cerebral cortex specimens were obtained for detection of the expression of miRNA by using real time fluorescence quantitative reverse transcription - polymerase chain reaction(RT-PCR). Flow cytometry(FCM)was used to detect the neurocyte apoptotic rate. Results Compared between normal control and sham operation groups,there were no significant differences in the expression of apoptosis-related miRNA and neurocyte apoptosis rate of cerebral cortex(both P>0.05). Compared with sham operation group,in CA-CPR group, 16 miRNA expressions were up-regulated,including Let-7c,miR-15a,miR-21,miR-24,miR-29,miR-29b, miR-34a, miR-103, miR-200a, miR-200b, miR-200c, miR-210, miR-326, miR-338-3p, miR-494 and miR-497,and there were 22 down-regulated,being Let-7a,Let-7b,Let-7d,Let-7e,miR-19a,miR-19b-1, miR-20a,miR-20b,miR-23a,miR-23b,miR-25,miR-98,miR-107,miR-122a,miR-125a,miR-125b, miR-145,miR-181a,miR-181c,miR-335,miR-384-5p and miR-422a. Eight miRNA had significant changes at 24 hours after ROSC,in which miR-15a,miR-21,miR-34a,miR-497 were up-regulated respectively for 6.831±2.625,8.122±3.442,5.349±2.010,6.590±3.689 times,and miR-125b,miR-145,Let-7a,Let-7e were down-regulated respectively for 0.122±0.039,0.199±0.096,0.191±0.069,0.160±0.082 times. The apoptosis rate of cerebral cortex was increased significantly in CA-CPR group〔(32.23±5.31)%〕compared with that in normal control group〔(3.66±1.34)%〕and sham operation group〔(4.98±1.84)%,both P down-regulated respectively for 0.122±0.039,0.199±0.096,0.191±0.069,0.160±0.082 times. The apoptosis rate of cerebral cortex was increased significantly in CA-CPR group〔(32.23±5.31)%〕compared with that in normal control group〔(3.66±1.34)%〕and sham operation group〔(4.98±1.84)%,both P<0.01〕. Conclusions In early period after CA-CPR,obvious neurocyte apoptosis may be found in brain tissue of rats,and in the mean time, changes in apoptosis-related miRNA expression in cerebral cortex occur. The various types of miRNA with significant changes possibly play important roles in cerebral protection after CA-CPR in rats.

Correlation between CD40-1C/T gene polymorphism and serum sCD40L / 中国医师杂志

Objective To investigate the correlation between CD40-1C/T gene polymorphism and serum soluble CD40L (sCD40L) expression in cerebral infarction.Methods According to the inclusion and exclusion criteria,select the acute large artery atherosclerosis in patients with cerebral infarction as the case group,select the same period without a history of stroke examination subjects as the control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology was used to detect CD40 gene polymorphism and sequencing,double-antibody sandwich enzyme-linked immunosorbent assay (ELISA) was used to detect the expression levels of serum sCD40L.Results A total of 209 patients with large artery atherosclerotic cerebral infarction (case group) and 87 subjects without history of stroke (control group) were included.The CC genotype (31.6％) and C allele frequency (53.8％) of the case group were significantly higher than that of the control group (17.2％,39.1％) (x2 =6.94,10.69,P ＜0.01).Case group serum sCD40L expression level was significantly higher than those in the control group [(3.97 ± 1.20) vs (2.69 ±0.88)] (t =10.19,P ＜0.001).Case group serum sCD40L expression level was different among CC,CT,and TT genotypes (F =19.22,P ＜0.001),serum sCD40L level (4.55± 1.16) of CC genotype in patients was significantly higher than that of CT (3.93 ± 1.17) and TT genotypes (3.27 ± 0.90),serum sCD40L level (3.93 ± 1.17) of CT genotype in patients was significantly higher than the TT genotype (3.27 ±0.90).The serum sCD40L expression level of the control group in the CC,CT,TT has no statistically significant differences among various genotypes [(2.91 ±0.79),(2.67 ±0.89),(2.61 ±0.91),F =0.619,P =0.541).Conclusions CD40-1C/T gene polymorphism is associated with serum sCD40L expression level in cerebral infarction,serum sCD40L level of the CC genotype was significantly higher.

Clinical application of ultrasound biomicroscopy in the treatment of congenital corneal opacities / 中华超声影像学杂志

Objective To investigate the clinical application of ultrasound biomicroscopy in the treatment of congenital corneal opacities.Methods Medical records of 20 eyes (15 patients) with congenital corneal opacity treated at our hospital from July 2004 to November 2011 were retrospectively reviewed.Best corrected visual acuity testing,intraocular pressure testing,slit-lamp anterior segment examination,fundus examination,slit-lamp microscopic photography,B scan examination,and ultrasound biomicroscopy were performed for analysis of complications of congenital corneal opacity and selection of surgical approaches.Results The ultrasound biomicroscopic examination showed that 5 eyes had no Descemet's membrane and corneal endothelium,20 eyes had anterior synechia,5 eyes had aniridia,3 eyes had loss of lens cortex,13 eyes had cataract,14 eyes had closed angle,and 3 eyes had pupillary membrane.14 of 20 eyes received surgical treatment,including penetrating keratoplasty combined with cataract extraction and trabeculectomy (5 eyes),penetrating keratoplasty combined with pupil angioplasty (3 eyes),penetrating keratoplasty combined with cataract extraction (3 eyes),penetrating keratoplasty combined with trabeculectomy (2 eyes),and lamellar keratoplasty (1 eye).Conclusions Ultrasound biomicroscopy is important to guide the diagnosis and treatment of congenital corneal opacity.

Correlation between CD40 -1C/T polymorphism and large artery atherosclerotic stroke / 国际脑血管病杂志

Objective To investigate the correlation between CD40 gene promoter region - 1C/T polymorphism and carotid atherosclerotic plaques and large artery atherosclerotic stroke.Methods The subjects were the patients with acute large artery atherosclerotic stroke (patient group) and the patients without history of stroke (control group).The patient group was further divided into an unstable plaque subgroup,a stable plaque subgroup,and a plaque-free subgroup.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect CD40 - 1C/T polymorphism.Results A total of 170 patients with large artery atherosclerotic stroke (patient group) and 61 subjects without history of stroke (control group) were included.In the patient group,51 patients were in the unstable plaque subgroup,60 were in the stable plaque subgroup,and 59 were in the plaque-free subgroup.C allele frequency of the patient group was significantly higher than that of the comrol group (52.9％ vs.38.5％ ;x2 =7.466,P =0.006).In the patient group,C allele frequency of the unstable plaque subgroup (75.5％) was significantly higher than that of the stable plaque subgroup (53.3％),and both of them were significantly higher than that of the plaque-free subgroup (33.1％ ) (the stable plaque subgroup vs.the plaque-free subgroup:x2 =9.970,P =0.002; the unstable plaque subgroup vs.the stable plaque subgroups:x2 =11.680,P =0.001; the unstable plaque subgroup vs.the plaque-free subgroup:x2 =39.532,P=0.000).Multivariate logistic regressive analysis showed that hypertension (OR9.513,95％ CI 1.291 - 20.779; P =0.028),increased total cholesterol level (OR 4.235,95％ CI 1.069 -19.034; P =0.032),increased low density lipoprotein level( OR 4.201,95％ CI 1.803 - 9.672; P =0.001 )and C alleles (OR 1.759,95％ CI 1.177 - 2.738; P =0.006) are the independent risk factors of large artery atherosclerotic stroke.Conclusions CD40 - 1C/T polymorphism is associated with the risks of carotid atherosclerotic plaque formation,unstable plaque and large artery atherosclerotic stroke; C allele may be a susceptibility factor for large artery atherosclerotic stroke.