Objective: To analyze the clinical features of spontaneous rupture of the renal pelvis (SRRP) in infants caused by UPJO. Methods: A retrospective analysis of 7 cases of SRRP in infants caused by UPJO in our hospital from October 2013 to October 2018 was performed. All the patients included 5 males and 2 females. The average age was(12.0±6.1) months(ranging 2 days-25 months). 3 cases suffered renal rupture in left side and 4 cases suffered renal rupture in right side. 2 cases had grade Ⅲ hydronephrosis and 5 cases had grade Ⅳ hydronephrosis. Other symptoms included fever in 4 cases, digestive symptoms in 3 cases, oliguria in 2. 7 cases were revealed RBC(+ + + )with urinary occult blood positive in urine test. 6 cases were found the white blood cells in urine was more than 8/μl. 3 cases had the elevated blood C-reactive protein.3 cases suffered with renal function insufficiency, which the creatinine was more than 110 μmol/L. The 2 cases of urinary extravasation was found in the posterior abdominal cavity and 2 in posterior abdominal cavity and abdominal cavity by CT enhanced scan. 4 cases performed open pyeloplasty, nephrostomy and perirenal drainage.2 cases performed pyeloplasty, nephrostomy, abdominal and perirenal drainage. 1 case performed perirenal drainage and retrograde indwelling Double-J stents. Results: All operation performed successfully. The median operation time was 84 min (ranging 45-90 min). The estimate blood loss was 15 ml (ranging 10-35 ml)without any transfusion. The median time of postoperative perirenal drainage tube was 3 d (ranging 2-5 d), The median time of the abdominal drainage tube was 5 d (ranging 3-7 d), the median time of nephrostomy was 12 d (ranging 10-14 d). The median hospital stay was 14 d (ranging 10-21 d). The median follow-up was 18 months (ranging 3-36 months). One performed the second stage pyeloplasty after double-J stents removed, and the renal function gradually recovered. Conclusions The SRRP in infants caused by UPJO is rare and easily misdiagnosed. The degree of hydronephrosis and inflammation may be important factors affecting the spontaneous rupture of pediatric renal pelvis. When it occurs, it requires active intervention by the operation, while treating the stenosis of the UPJ and draining the extravasation of urine.

Global warming caused by the increasing CO2 concentration in atmosphere is a serious problem in the international political, economic, scientific and environmental fields in recent years. Intensive carbon dioxide capture and storage (CCS) technologies have been developed for a feasible system to remove CO2 from industrial exhaust gases especially for combustion flue gas. In these technologies, the biofixation of CO2 by microalgae has the potential to diminish CO2 and produce the biomass. In this review, the current status focusing on biofixation of CO2 from combustion flue gases by microalgae including the selection of microalgal species and effect of flue gas conditions, the development of high efficient photobioreactor and the application of microalgae and its biomass product were reviewed and summarized. Finally, the perspectives of the technology were also discussed.
Air Pollutants ; isolation & purification ; metabolism ; Air Pollution ; prevention & control ; Biodegradation, Environmental ; Carbon Dioxide ; isolation & purification ; metabolism ; Microalgae ; metabolism ; Photochemistry

Objective: To investigate the pathogenic mechanism of two novel ITGB2 mutations in leukocyte adhesion defect type 1 (LAD1). Methods: The clinical history and blood sample of an 11 years old patient admitted to Affiliated Hospital of Qingdao University in August 2014 were collected. Expression of CD18 (encoded by ITGB2) was analyzed by flow cytometry. Novel ITGB2 mutations were identified by next-generation sequencing technology and confirmed by Sanger sequencing. The functional effect of ITGB2 mutations was detected by PolyPhen2. Expression vectors of both wild type and mutant ITGB2 were constructed and transfected into mammalian cells for analysis of protein stability and subcellular location. Results: The symptoms of the patient (recurrent infections, lowered alveolar ridge and hypodontia) supported the diagnosis of LAD1. Expression of CD18 on the leukocytes was significantly decreased (0.2%) compared with the control samples from the parents (paternal: 99.0%; maternal: 99.1%). The patient was identified to be compound heterozygous for ITBG2 c.954del G (novel mutation) and c.1802C>A (paternal originated). ITGB2 c.954 del G was confirmed to be a harmful frameshift mutation; ITGB2 c.1802C>A was also predicted to be harmful. In terms of protein stability. There was no significant difference between mutant D18 and wild type. However, subcellular location analysis showed the mutant D18 could not locate on cell membrane. Conclusion The compound heterozygous of ITGB2 mutations (c.954del G and c.1802C>A) decreases the expression and impairs the location of CD18 on leukocytes, which leads to LAD1.

Objective:To investigate the effect of Hong's One Stitch Method in pancreaticoduodenectomy(PD).Methods:A total of 40 patients who underwent PD in our hospital from Jan 2021 to Dec 2022 were divided into two groups according to random number table method,with 20 patients in each group.The control group was treated with end to end pancreatojejunal anastomosis,and the observation group was treated with"Hong's One Stitch Method".The perioperative indicators,complications,secondary surgery,mortality and quality of life were compared between the two groups.Results:The pancreatoenteroanastomosis time,operation time and hospitalization time in the observation group were shorter than those in the control group,and the incidence of pancreatic fistula was lower than that in the control group(P＜0.05).There were no significant differences in intraoperative blood loss,pancreatic biochemical leakage,bile fistula,hemorrhage,localized abdominal infection,gastric emptying obstruction,pulmonary infection,secondary surgery and mortality between the two groups(P＞0.05).The mental health score,emotional function score,social function score,energy score,general health status score,body pain score,and physiological function score in the observation group were higher than those in the control group(P＜0.05).Conclusion:In PD surgery,the application of"Hong's One Stitch Method"to perform pancreatoenterostomy is beneficial to shorten the pancreatoenterostomy time,operation time and hospitalization time,accelerate the postoperative recovery,reduce the incidence of pancreatic fistula,and improve the quality of life of patients.

OBJECTIVEHPLC-MS/MS-based metabonomics method was used to find the possible biomarker of Rhizoma Coptidis in rat urine.

METHODSprague-Dawley rats were successively administrated 7 g x kg(-1) aqueous extract of Rhizoma Coptidis for 30 days, urine were collected by metabolism cages and detected by using the HPLC-MS-MS. All dates were analyzed by the principal component analysis (PCA) through using the SIMCA-P 10.0 software.

RESULTThe PCA demonstrated that the metabolome between treated group and control group had difference in rat urine sample after of 22 days administrated, for treated group 169 kinds of biomarkers were found including oxalacetic acid, malic acid, 2-ketoglutaric acid, NE, arachidonic acid, 5-HIAA and other compounds, the result was consistent with pharmacological effects of R. coptidis, such as antiinflammatory, inhibiting biosynthesis of CA biosynthesis, anticentral nerve and energy metabolism inhibition.

CONCLUSIONMetabonomics may be available in pharmacological action evaluation of drugs.

Animals ; Drugs, Chinese Herbal ; analysis ; pharmacology ; Male ; Metabolomics ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Urine ; chemistry

OBJECTIVE: To explore the genetic basis for a family with non-syndromic autosomal recessive deafness. METHODS: The proband and her parents were subjected to physical and audiological examinations. With genomic DNA extracted from peripheral blood samples, next-generation sequencing was carried out using a panel for deafness genes. Suspected mutation was validated by Sanger sequencing and qPCR analysis of her parents. RESULTS: The proband presented bilateral severe sensorineural hearing loss at three days after birth. Her auditory threshold was 110-120 dBnHL but with absence of vestibular and retinal symptoms. Her brother also had deafness but her parents were normal. No abnormality was found upon physical examination of her family members, while audiological examination showed no middle ear or retrocochlear diseases. Next-generation sequencing identified compound heterozygous mutations of the MYO7A gene, including a previously known c.462C>A (p. Cys154Ter) and a novel EX43_46 Del, which were respectively derived from her mother and father. CONCLUSION The compound heterozygous mutations of the MYO7A gene probably underlie the disease in this family. Our findings has enriched the mutation spectrum for non-syndromic autosomal recessive deafness 2.
Female ; Hearing Loss, Sensorineural ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Myosins ; genetics ; Pedigree

Objective:To analyze clinical characteristics of and causative genes in two families with dystrophic epidermolysis bullosa, and to reveal the pathogenesis of the disease and mechanisms underlying phenotypic differences between patients.Methods:DNA was extracted from peripheral blood samples of members from two families with dystrophic epidermolysis bullosa, and subjected to high-throughput sequencing and Sanger sequencing.Results:The clinical manifestations of the 2 probands in the 2 families were consistent with the diagnosis of dystrophic epidermolysis bullosa, and the symptoms of the proband in family 1 were more serious than those of other patients in the family. Genetic testing showed that all patients in family 1 carried a mutation c.6082G>C (p.G2028R) in the COL7A1 gene, and the proband and her phenotypically normal mother and uncle also carried a splice-site mutation c.7068+2 (IVS91) T>G in the COL7A1 gene, both of which were first reported. The proband in family 2 carried the mutations c.6081_6082 ins C (p.G2028Rfs*71) and c.1892G>A (p.W631X, first reported) in the COL7A1 gene, which were inherited from her father and mother, respectively.Conclusion:The two pathogenic mutations may be the molecular mechanism underlying the severe clinical phenotype in the proband in family 1; the first reported mutations enriched the mutation spectrum of the COL7A1 gene.

BACKGROUND:Astrocytes play an important role in the pathology of central nervous system diseases.The phenotypic and functional changes in astrocytes suggest that it may be an effective therapeutic target for central nervous system diseases.Our previous studies have confirmed that astragaloside can inhibit the lipopolysaccharide-induced astrocyte inflammatory response.Whether astragaloside can regulate the phenotype and function of astrocytes through Notch-1 and its downstream signaling pathway remains unclear. OBJECTIVE:To explore the effect of astragaloside on astrocyte activation and inflammatory response induced by inflammation and its possible mechanism. METHODS:Cerebral cortex astrocytes derived from neonatal C57BL/6 mouse were cultured in vitro.CCK-8 assay was used to determine the optimum concentration of astragaloside and Notch active inhibitor DAPT.The astrocytes were divided into five groups:PBS group,lipopolysaccharide group,lipopolysaccharide + astragaloside group,lipopolysaccharide + DAPT group and lipopolysaccharide + DAPT + astragaloside group.The secretion level of inflammatory factors was detected by ELISA,and the level of nitric oxide was detected by Griess method.The astrocytes and splenic mononuclear cells were co-cultured in Transwell chamber to observe the migration of CD4T cells.The expression of astrocyte activation marker GFAP,A1 marker C3 and A2 marker S100A10 as well as Notch 1 and Jag-1 was detected by immunofluorescence staining.The expressions of CFB,C3,S100A10,PTX3,Notch-1,Jag-1,and Hes were detected by western blot assay. RESULTS AND CONCLUSION:(1)According to the results of CCK8 assay,the final concentration of astragaloside was selected as 25 μmol/L and the final concentration of DAPT was 50 μmol/L for follow-up experiments.(2)Compared with PBS group,interleukin-6,interleukin-12 and nitric oxide secretion levels in the lipopolysaccharide group were significantly increased(P<0.05,P<0.05,P<0.01).Compared with the lipopolysaccharide group,interleukin-6(all P<0.05),interleukin-12(P>0.05,P<0.05,P<0.05)and nitric oxide(P<0.05,P<0.01,P<0.01)secretion significantly reduced in the lipopolysaccharide + astragaloside group,lipopolysaccharide +DAPT group,lipopolysaccharide + DAPT + astragaloside group.(3)Compared with the PBS group,the expression of GFAP that is the marker of activated astrocytes and the migration of CD4 T cells were significantly increased in the lipopolysaccharide group(P<0.01).Compared with the lipopolysaccharide group,astrocyte activation was significantly inhibited and CD4 T cell migration was significantly reduced in the lipopolysaccharide + astragaloside,lipopolysaccharide +DAPT,lipopolysaccharide + DAPT + astragaloside group(P<0.05,P<0.05,P<0.01).(4)Compared with the PBS group,the expressions of A1 markers C3 and CFB in the lipopolysaccharide group were increased(P<0.01,P<0.05),and the expressions of A2 markers S100A10 and PTX3 were decreased(P<0.01,P<0.05).Compared with the lipopolysaccharide group,C3(all P<0.01)and CFB(both P<0.05)were significantly reduced and S100A10(all P<0.01)and PTX3(P<0.05,P<0.05 and P>0.05)were increased in the lipopolysaccharide + astragaloside,lipopolysaccharide +DAPT,lipopolysaccharide + DAPT + astragaloside group.(5)Compared with the PBS group,the expressions of Jag-1,Notch-1 and Hes in the lipopolysaccharide group were significantly increased(all P<0.01).Compared with the lipopolysaccharide group,the expressions of Jag-1(all P<0.01),Notch-1(all P<0.01)and Hes(P<0.05,P<0.01 and P<0.01)were significantly reduced in the lipopolysaccharide + astragaloside,lipopolysaccharide +DAPT,lipopolysaccharide + DAPT + astragaloside group.(6)The results indicate that astragaloside can promote the transformation of astrocytes from A1 to A2 by regulating Notch-1 signaling pathway,reduce the secretion of inflammatory factors and the migration of CD4 T cells,and thus inhibit astrocyte activation and inflammatory response.

Objective:To provide experimental evidence for genetic counseling and prenatal diagnosis by analyzing the clinical characteristics, screening and identification of the function of suspicious variants in a X-1inked spondyloepiphyseal dysplasia tarda (SEDT) family.Methods:The family members' medical history, general physical examination, femur, spine X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA was extracted from these samples. Sequencing clinical whole exons of proband DNA by targeted gene high-throughput sequencing method, then analysis sequencing data. The suspicious mutation was confirmed in pedigree members by PCR and Sanger sequencing. Reverse transcription polymerase chain reaction (RT-PCR) experiments of total RNA from blood lymphocytes were performed. The amplification of exons 3 and 4 of the pathogenic gene were amplified and identified by agarose gel. The expression of the pathogenic gene was also detected.Results:Three affected males of the family were diagnosed with SEDT according to their clinical and radiological features. A nonsense mutation in the transport protein particle complex subunit 2 ( TRAPPC2) gene NM_001011658: c.91A>T (p.K31*) was found in the proband using whole exome sequencing. This variation was also detected in his cousin, but not in non-phenotypic members of the family. The RT-PCR result for amplification of exon 3 and 4 of peripheral blood lymphocytes was the same as those of normal controls, indicating that the mutation did not affect the splicing of transcripts. qPCR results showed that the transcriptional expression of TRAPPC2 in patients was significantly lower than that in family normal controls and normal people controls. Conclusion:Identification of the novel nonsense mutation (c.91A>T) in the SEDT family enables early patients screening, carrier detection, genetic counseling, prenatal diagnosis, and clinical prevention and treatment. The detailed genotype/phenotype descriptions contribute to the SEDT mutation spectrum. The study of the function of TRAPPC2 mutation will help to further elucidate the role of sedlin in cartilage.

OBJECTIVE: To optimize DNA library construction in non-crosslinked chromatin immunoprecipitation coupled with next-generation sequencing (Native ChIP-seq) to obtain high-quality Native ChIP-seq data. METHODS: Human nasopharyngeal carcinoma HONE1 cell lysate was digested with MNase for release of the nucleosomes, and the histone-DNA complexes were immunoprecipitated with specific antibodies. The protein component in the precipitate was digested with proteinase K followed by DNA purification; the DNA library was constructed for sequence analysis. RESULTS: Compared with the conventional DNA library construction, Tn5 transposase method allowed direct enrichment of the target DNA after Tn5 fragmentation, which was simple, time-saving and more efficient. The IGV visualized map showed that the information obtained by the two library construction methods was consistent. The sequencing data obtained by the two methods revealed more signal enrichment with Tn5 transposase library construction than with the conventional approach. H3K4me3 ChIP results showed a good reproducibility after Tn5 transposase library construction with a signal-to-noise ratio above 50%. CONCLUSIONS Tn5 transposase method improves the efficiency of DNA library construction and the results of subsequent sequence analysis, and is especially suitable for detecting histone modification in the DNA to provide a better technical option for epigenetic studies.
Chromatin Immunoprecipitation ; DNA ; Gene Library ; High-Throughput Nucleotide Sequencing ; Humans ; Reproducibility of Results ; Sequence Analysis, DNA