Genetic susceptibility of PLCE1 gene polymorphism and primary nephrotic syndrome in Guangxi Zhuang children / 中华肾脏病杂志

Objective:To investigate the relationship between single nucleotide polymorphic (SNP) loci of PLCE1 gene and primary nephrotic syndrome (PNS) and its response to glucocorticoid therapy in Guangxi Zhuang children. Methods:It was a retrospective cohort study. One hundred and fifty-five Guangxi Zhuang children with PNS in the Affiliated Hospital of Youjiang Ethnic Medical College from October 2020 to May 2022, and 100 healthy Zhuang children during the same period as controls were included. Four SNP loci including rs17109674, rs10786156, rs3740360 and rs2274224 of PLCE1 gene were selected and high-throughput sequencing was used to analyze the genotypes. Logistic regression analysis model was used to analyze the correlation between each SNP locus and onset of PNS and steroid-resistant nephrotic syndrome. The SHEsis online software was used to analyze the link disequilibrium of each SNP locus, and construct the haploid type. Results:(1) Logistic regression analysis results showed that AC+CC genotype (AA as reference, OR=0.449, 95% CI 0.256-0.786, P=0.005), AC genotype (AA as reference, OR=0.354, 95% CI 0.188-0.667, P=0.001) and C allele gene (A as reference, OR=0.615, 95% CI 0.390-0.971, P=0.037) of rs3740360 were correlated with the risk of PNS in children. The genotypes and allele genes of rs17109674, rs10786156, rs3740360 and rs2274224 were not associated with the risk of steroid-resistant nephrotic syndrome in children (all P>0.05). (2) Strong linkage disequilibrium existed between rs10786156 and rs2274224 ( D'=0.702, r2=0.484). rs17109674 and rs10786156 ( D'=0.128, r2=0.007), rs17109674 and rs3740360 ( D'=0.142, r2=0.007), rs17109674 and rs2274224 ( D'=0.045, r2=0.001), rs10786156 and rs3740360 ( D'=0.255, r2=0.023), and rs3740360 and rs2274224 ( D'=0.281, r2=0.028) all had weak linkage disequilibrium. (3) The haploid AGCG ( OR=0.282, 95% CI 0.079-1.008, P=0.038), GGCC ( OR=0.327, 95% CI 0.111-0.967, P=0.034) and GGAG ( OR=4.616, 95% CI 1.179-18.069, P=0.016) were all correlated with the risk of PNS in children. Conclusions:AC genotype, AC+CC genotype, and C allele gene of rs3740360 SNP locus may reduce the risk of PNS in Guangxi Zhuang children. Haploid AGCG and GGCC may be associated with decreased incidence of PNS, while GGAG may be associated with increased incidence of PNS in Guangxi Zhuang children. The genotypes and alleles of 4 SNP loci are not associated with the risk of steroid-resistant nephrotic syndrome.

Genetic association analysis of SARS-CoV-2 infection in 455,838 UK Biobank participants

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven COVID-19 outcomes in 543,213 individuals, including 8,248 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome-wide or when specifically focusing on (i) 14 interferon pathway genes in which rare deleterious variants have been reported in severe COVID-19 patients; (ii) 167 genes located in COVID-19 GWAS risk loci; or (iii) 32 additional genes of immunologic relevance and/or therapeutic potential. Our analyses indicate there are no significant associations with rare protein-coding variants with detectable effect sizes at our current sample sizes. Analyses will be updated as additional data become available, with results publicly browsable at https://rgc-covid19.regeneron.com.

Endovascular coiling of posterior communicating artery aneurysms in patients with fetal-type posterior cerebral artery: comparison with surgical clipping / 国际脑血管病杂志

Objective To compare the efficacy of endovascular interventional treatment and surgical clipping in posterior communicating artery aneurysm (PCoAA) patients with fetal-type posterior cerebral artery (fPCA).Methods The PCoAA patients with fPCA were enrolled.Their baseline clinical data were collected.The modified Rankin Scale (mRS) was used to assess the clinical outcomes at six months after procedure.The mRS score 0-2 was defined as good outcome.Results A total of 35 PCoAA patients with fPCA were enrolled into the study,23 were treated with interventional embolization therapy and 12 were treated with craniotomy clipping.There were no significant differences in age,gender,preoperative Fisher grade,Hunt-Hess grade,baseline GCS scores,and aneurysm typing between the 2 groups.The good outcome rate of the interventional embolization group at 6 months was higher than that of the surgical clipping group,but there was no significant difference (65.22％ vs.41.67％;P =0.282).Results The efficacy of PCoAA using interventional embolization therapy combined fPCA is almost the same as craniotomy clipping.

Diagnosis and management of nasal and pharyngeal dendritic cell tumor-case report and literature review / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the clinical manifestation, pathological characteristics, treatment and prognosis of dendritic cell tumor.@*METHOD@#Four cases of nasal and pharyngeal dendritic cell tumor were described, including two cases of follicular dendritic cell sarcoma (FDCS), one case of Langerhans cell histiocytosis (LCH) and one case of Langer hans cell sarcoma (LCS). One of the patients with FDCS received multimodality therapy (surgery combined with chemotherapy), and the other patient only received chemotherapy and radiotherapy. The patients with LCH or LSC were treated by surgery.@*RESULT@#Of the two FDCS patients, one achieved complete remission after treatment by surgery combined with four cycles of CHOP chemotherapy regimen and concurrent radiotherapy (50 Gy), and the other who only received chemotherapy and radiotherapy survived with tumor for more than seven months of follow up. The patient of LCH was followed up for more than 2 years after surgery without recurrence or metastasis. The patient of LCS did not undergo radiotherapy or chemotherapy after surgery and died after 10 months of follow up.@*CONCLUSION@#Dendritic cell tumor is a group of very rare tumor and can be easily misdiagnosed in clinic, the confirmed diagnosis of which relies on histopathological features, immunohistochemistry combined with electron microscopy. FDCS, LCH and LCS have different pathological features, immunophenotypes and prognosis.

Distribution and Antibiotic Susceptibility of Pathogens Isolated in 76 Cases of Neonatal Septicemia / 中华医院感染学杂志

OBJECTIVE To investigate pathogens in neonatal septicemia and the antimicrobial resistance of these bacteria in recent years to guide the clinical treatment.METHODS The data of 76 neonatal septicemia confirmed by hemoculture from Jan 2005 to Jan 2008 in our hospital were analyzed retrospectively.RESULTS Coagulase-negative Staphylococcus(CNS) were the main pathogens,among which their were 47.36% of S.epidermidis,10.53% of S.haemolyticus,9.21% of S.aureus,and the others of 7.88% Escherichia coli.Bacteria were highly resistant to penicillin,ampicillin and erythromycin.Vancomycin,imipenem,ciprofloxacin and amikacin were the most sensitive drugs.CONCLUSIONS Gram-positive cocci are main pathogens in neonatal septicemia,in which the CNS are the most common ones.To choose sensitive antibiotics bases on the drug sensitivity tests may decrease the occurrence of drug resistance to bacteria and increase the clinical curative effects.

Expression of Cyclooxygenase-2 mRNA and Identification of Its Splice Variant in Human Myometrium Obtained from Women in Labor / 华中科技大学学报（医学）（英德文版）

In order to investigate the expression of cyclooxygenase-2 (COX-2) in human lower segments of myometrium obtained from women in labor and those not in labor and identify the splicing variant of COX-2, reverse transcriptase-polymerase chain reaction (RT-PCR) was used to detect the expression of COX-2. The primers were designed and synthesized according to the sequence of rat COX-2 splice variant which was discovered firstly by us. Then the splicing variant of COX-2 in human myometrium from woman in labor was identified, cloned into vector and sequenced. The results showed that the expression of COX-2 mRNA was lower in human myometrium obtained from women who were not in labor than that in labor women and a new band of COX-2 was obtained in myometrium from labor woman. The fragment included an unspliced intron, which pitched between exons 7 and 8. It was suggested that COX-2 gene was not only expressed highly in human myometrium from woman in labor, but also produced splicing variant by alternative splicing.

Expression of cyclooxygenase-2 mRNA and identification of its splice variant in human myometrium obtained from women in labor / 华中科技大学学报（医学）（英德文版）

In order to investigate the expression of cyclooxygenase-2 (COX-2) in human lower segments of myometrium obtained from women in labor and those not in labor and identify the splicing variant of COX-2, reverse transcriptase-polymerase chain reaction (RT-PCR) was used to detect the expression of COX-2. The primers were designed and synthesized according to the sequence of rat COX-2 splice variant which was discovered firstly by us. Then the splicing variant of COX-2 in human myometrium from woman in labor was identified, cloned into vector and sequenced. The results showed that the expression of COX-2 mRNA was lower in human myometrium obtained from women who were not in labor than that in labor women and a new band of COX-2 was obtained in myometrium from labor woman. The fragment included an unspliced intron, which pitched between exons 7 and 8. It was suggested that COX-2 gene was not only expressed highly in human myometrium from woman in labor, but also produced splicing variant by alternative splicing.

Effect of tetramethylpyrazine on lipopolysaccharides induced macrophage cyclo-oxidase-2 expression and apoptosis of cardiac myocytes / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the effect of tetramethylpyrazine (TMP) on lipopolysaccharides (LPS) induced macrophage cyclo-oxidase-2 (COX-2) gene expression and activity in RAW264.7 mice, and to further investigate the effect and mechanism of TMP on LPS induced apoptosis of cardiac myocytes in suckling mice.</p><p><b>METHODS</b>RT-PCR and Western Blot (WB) were used to investigate the macrophage COX-2 gene expression, ELISA was used to measure its activity, fluorescence microscopy was used to determine the apoptosis of murine neonatal cardiac myocyte, and fluorescence spectrophotometry was used to detect the concentration of intracellular calcium ion (Ca2+).</p><p><b>RESULTS</b>TMP of 10(-6) mol/L could significantly reduce the COX-2 mRNA and protein expression (P < 0.05), in 10(-5) mol/L and 10(-4) mol/L could significantly decrease the COX-2 expression (P < 0.01) stimulated by LPS, but couldn't influence the activity of COX-2 by different TMP concentration. TMP in 10(-5) mol/L could significantly lower the concentration of intracellular Ca2+ in cardiac myocyte, and antagonize the LPS induced apoptosis of cardiac myocyte in suckling mice (P < 0.05).</p><p><b>CONCLUSION</b>TMP has the pharmacological effect in inhibiting LPS induced macrophage COX-2 expression and apoptosis of cardiac myocyte in suckling mice.</p>