1.Early Diagnosis of Otitis Media with Effusion in Preschool Children
Modern Hospital 2016;16(10):1427-1428,1431
Objective To investigate efficient examination for early diagnosis of otitis meida woth effusion in pre-school children.Methods 169 cases (338 ears) with otitis media effusion in preschool children in our clinic were analyzed . All the data were analyzed retrospectively .All the pediatric patients complained symptoms related to rhinosinusitis and pediat-ric snoring while they had not been found hearing impairment .All the pediatric patients were diagnosed due to the history , special physical examination and acoustic impedance .And all the patients were divided into 3 groups:group 1 with rhinosi-nusitis, group 2 with pediatric snoring , and group 3 with rhinosinusitis and pediatric snoring .The incidence rates of otitis media with effusion were analyzed among the three groups and control group .Results The incidence rates for group1, group 2, group 3 and contrl group were 55.96%、48.08%、63.24%、11.19%respectively.According toχ2 test, there were signif-icant difference between group 3 and control group ( P<0.001 ) , respectively .But there was no difference among the three experimental groups(P>0.05).Conclusion Preschool children are high -risk population, which are attacked by otitis media with effusion .The primary factors include rhinosinusitis and pediatric snoring .Detailed history , careful special physi-cal examination and acoustic impedance are most useful for diagnosis .All the parents , kindergareners and physicians should pay attention to early symptoms , otherwise early diagnosis and early treatment will be missed .
2.The role of RhoA/ROCK pathway in the rat models of left heart disease-associated pulmonary hypertension
Jinfu WU ; Xiaohui ZHOU ; Huimin FAN ; Fang LIN ; Luer BAO ; Lin ZHANG ; Lihua JIANG ; Zhongmin LIU
Acta Laboratorium Animalis Scientia Sinica 2015;(6):612-616
Objective To investigate the role of RhoA /Rho-kinase pathway in rat models of left heart disease-as-sociated pulmonary hypertension ( PH-LHD) .Methods Twenty male SD rats (3-4 week-old, 90-100 g) were randomly divided into two groups (10 rats in each group):the group C ( control group) with sham operation, and group H ( pulmo-nary arterial hypertension) .The rat model of left heart disease-associated pulmonary hypertension was established by supra-coronary aortic banding in the group H, and the sham surgery was applied for the rats in the group C ( The titanium clip was fixed at the mediastinal tissue adjacent to the artery rather than the ascending aorta).On day 60 after the operation, the cardiac functions, including right ventricular systolic pressure and pulmonary artery pressure were evaluated.After that, all rats were sacrificed and treated with cardiopulmonary lavage in vivo until the lung became white.Then the left lung tissues were fixed in 4%paraformaldehyde for pathological observation while the right lung tissues were frozen for mRNA detec-tion.Results Compared with the group C, both ventricular systolic pressure and pulmonary artery pressure in the group H were increased significantly (P<0.01).Pathological data demonstrated that the pulmonary artery walls in H group were much thicker than that in the group C.Moreover, vascular wall hypertrophy index in the group H was increased greatly compared with that in the group C (P<0.01).QPCR data showed that mRNA levels of Rho kinase, RhoA and ET-A R in the group H were up-regulated compared with the group C ( P<0.01) .Conclusions Rat model of left heart disease-asso-ciated pulmonary arterial hypertension can be successfully established by supracoronary aortic banding.Rho-kinase-media-ted pathway may contribute to the pathogenesis and progress of left heart disease-associated pulmonary arterial hypertension.
3.Experimental Study on the Pathogenesis of Entamoeba gingivalis
Guangying LIU ; Jinfu CHEN ; Wangrong WEN ; Wenlie CHEN ; Liqun LIN ; Hang HONG
Chinese Journal of Parasitology and Parasitic Diseases 1987;0(04):-
Objective To study the pathogenesis of Entamoeba gingivalis ( E\^g .) and its relation to periodontal diseases.\ Methods Rats were treated with immuno\|inhibitor for one week and the neck of incisor teeth of the rats was bound with steel wire. They were randomly divided into three groups: the first group was infected by E\^g . in the periodontal tissue, the second group was infected by symbiotic bacteria (s.b.),and the third group was given physiological saline as control.Observation on the periodontal inflammation was made for each group of rats, and the purulent secretion from periodontal abscess was examined for living pathogens.\ Results The incidence of periodontal diseases in rats infected by E\^g . was higher than that of symbiotic bacteria group and that of control ( P
4.Effect of perioperative goal-directed fluid therapy on clinical outcome in elective colorectal resection.
Qiang LIN ; Huodong ZHOU ; Dafeng LI ; Jinfeng YE ; Jinfu HONG ; Yemao HU
Chinese Journal of Gastrointestinal Surgery 2015;18(7):671-675
OBJECTIVETo assess the effect of perioperative goal-directed fluid therapy (GDFT) on clinical outcomes in elective colorectal resection.
METHODSA total of 42 patients undergoing elective colorectal resection between March 2013 and December 2014 were recruited prospectively. GDFT was administrated based on corrected left ventricular ejection time and stroke volume using the esophageal Doppler monitoring. These patients were compared with a historical cohort of 58 patients managed without GDFT from January 2012 to February 2013. The primary endpoint was postoperative hospital stay and complication rate.
RESULTSThere was no significant difference in the overall fluid volumes administered intraoperatively between two groups [(2657±1037) ml vs. (2846±1444) ml, P>0.05], but patients in GDFT group received higher volume of colloid fluids [(935±556) ml vs. (688±414) ml, P<0.05]. After a period of concordance at the start of operation, corrected left ventricular ejection time, stroke volume and cardiac index increased in GDFT group compared with control group (all P<0.05). No significant differences were found in postoperative hospital stay [(11.27±6.42) d vs. (12.04±7.18) d, P>0.05] and total complication rate (26.5% vs. 25.9%, P>0.05) between two groups, but GDFT group had earlier postoperative flatus [(3.52±0.84) d vs. (4.48±0.71) d, P<0.05] and faster tolerated diet [(5.92±1.18) d vs. (6.83±0.95) d, P<0.05].
CONCLUSIONSPatients undergoing elective colorectal resection do not benefit from intraoperative GDFT. Further studies should be carried out to investigate whether GDFT can be routinely used during colorectal resection.
Colectomy ; Elective Surgical Procedures ; Fluid Therapy ; Goals ; Humans ; Length of Stay ; Perioperative Care ; Postoperative Period ; Prospective Studies ; Stroke Volume ; Treatment Outcome
5.Electron microscopic study on Trichomonas vaginalis adhering to and phagocytizing male genitourinary epithelial cells.
Wenlie CHEN ; Jinfu CHEN ; Xiurong ZHONG ; Xi LIN ; Lianyun CHEN
National Journal of Andrology 2004;10(2):86-89
OBJECTIVETo observe Trichomonas vaginalis (T. vaginalis) adhering to and phagocytizing male genitourinary epithelial cells in order to study the pathogenetic mechanism of male trichomoniasis.
METHODSCultured T. vaginalis bodies were incubated with male genitourinary epithelial cells, and then the ultrastructure was observed with transmission electron microscopy.
RESULTST. vaginalis adhered to epithelial cells like amoeba, and formed pseudopodium or surface invagination surrounding or nibbling other parts of the epithelial cytoplasm.
CONCLUSIONST. vaginalis has the speciality of adhering to and phagocytizing to male genitourinary epithelial cells. Genitourinary epithelial cells may be injured directly by the phagocytosis of T. vaginalis. Attention has to be paid to the correlation.
Animals ; Bacterial Adhesion ; Epithelial Cells ; parasitology ; Genitalia, Male ; parasitology ; Humans ; Male ; Microscopy, Electron ; Trichomonas vaginalis ; ultrastructure
6.Tiny mutations of Duchenne muscular dystrophy gene in 45 patients with Duchenne muscular dystrophy
Yiming SUN ; Juan YANG ; Yuling ZHU ; Liang WANG ; Huan LI ; Jinfu LIN ; Cheng ZHANG
Chinese Journal of Neuromedicine 2018;17(1):43-47
Objective To investigate the characteristics of point mutation,deletion or insertion mutations in Duchenne muscular dystrophy (DMD) gene.Methods Clinically confirmed 45 DMD patients without deletion/duplication mutation confirmed by MLPA in our hospital from January 2011 to November 2016 were chosen.Two generation sequencing technology was employed to detect DMD gene sequences.The features of tiny mutations were analyzed and summarized.Results In 45 patients without deletion/repeat mutation DMD,there were 66 mutations,including 24 missense mutations,20 nonsense mutations,12 splice site mutations,9 frameshift mutations and one synonymous mutation.There were 29 patients carrying one mutation,8 patents carrying 2 mutations,4 patients carrying 3 mutations,4 patients carrying 3 mutations,and one patient carrying 5 mutations.The exon 48 missense mutations were the most common,followed by exon 37 and exon 59;nonsense mutations,frameshift mutations,splice site mutations,and synonymous mutations had no obvious concentration distribution trend.Conclusion The exons 48,37 and 59 should be mainly considered during the drug research and development of tiny mutations,and readingthrough treatment of nonsense mutations is suitable for nonsense mutations.
7.Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency.
Yueqing SU ; Hanqiang CHEN ; Wenbin ZHU ; Jing WANG ; Jinfu ZHOU ; Yao CHEN ; Hong ZHAO ; Yinglin ZENG ; Feng LIN ; Honghua ZHANG ; Qingying LIN
Chinese Journal of Medical Genetics 2016;33(6):786-791
OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.
METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.
RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).
CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.
Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics
8.Analysis of GCDH gene mutations in 3 patients from Fujian area with glutaric academia type I.
Yao CHEN ; Qingying LIN ; Yinglin ZENG ; Hong ZHAO ; Weifen CHEN ; Jinfu ZHOU ; Yueqing SU ; Feng LIN ; Honghua ZHANG ; Wenbin ZHU
Chinese Journal of Medical Genetics 2018;35(5):657-660
OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).
METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.
RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.
CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.
9.Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian.
Wenbin ZHU ; Hanqiang CHEN ; Yueqing SU ; Hong ZHAO ; Jing WANG ; Jinfu ZHOU ; Yao CHEN ; Yinglin ZEN ; Feng LIN ; Honghua ZHANG
Chinese Journal of Medical Genetics 2015;32(2):158-162
OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.
METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.
RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.
CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.
Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics
10.Association of biliverdin reductase A gene polymorphisms with neonatal hyperbilirubinemia from Fujian area
Jinfu ZHOU ; Changyi YANG ; Shuwei CHEN ; Yinglin ZENG ; Jing WANG ; Hong ZHAO ; Yao CHEN ; Feng LIN ; Dan LIN ; Wenbin ZHU
Chinese Journal of Applied Clinical Pediatrics 2018;33(2):108-112
Objective To assess the association of single nucleotide polymorphisms (SNPs)of biliverdin reductase A (BLVRA) with neonatal hyperbilirubinemia from Fujian area.Methods A total of 286 patients with neonatal hyperbilirubinemia and 250 healthy controls were enrolled.Genotypes of 5 SNPs within BLVRA gene including rs699512,rs1802846,rs7738,rs1637530 and rs2302032 were determined with matrix-assisted laser desorption ionization/time of flight mass spectrometer.The frequencies of genotype,allele,haplotype and their differentiations were analyzed.Results All 5 SNPs had conformed to Hardy-Weinberg equilibrium (all P > 0.05).rs699512 and rs1637530 showed a significant difference between the 2 groups in both allelic and genotypic frequencies (all P < 0.05),but no significant differences were found in the other SNPs(all P > O.05).In recessive model,the frequency of rs699512 GG genotype of patients was significantly lower than that of the healthy control group(OR =0.494,95% CI:0.276-0.886,P =0.018),while in dominant model,the frequencies of rs699512 GG + AG and rs1637530 TT + CT genotype of patients were significantly lower than that of the healthy control group(OR =0.678,0.627;95% CI:0.482-0.954,0.444-0.885;P =0.026,0.008).Based on linkage disequilibrium analysis and haplotype construction,rs1637530,rs2302032,rs699512 and rs1802846 locus in the same area.Based on haplotype CGAT,TGGT,CTAT and CGGT had significant differences between the 2 groups (all P < 0.05),and could reduce the risk of high blood bilirubin (OR =0.588,0.687,0.501;95% CI:0.434-0.797,0.496-0.952,0.250-1.004).Conclusions rs699512 and rs1637530 may be associated with neonatal hyperbilirubinemia,A allele in rs699512 and C allele in rs1637530 may be associated with significantly increased risk of neonatal hyperbilirubinemia.