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 .

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.

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

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.

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

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

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

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.

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

Objective To understand the relationship between perinatal factors and congenital hypothyroidism(CH)and provide scientific evidence for the prevention of CH. Methods A case-control study was conducted among 125 neonates with CH (case group) and 375 neonates without CH(control group)in Fujian Neonatal Screening Center from January in 2012 to December in 2013. Univariate and multivariate logistic regression analysis were performed to identify the risk factors to CH during perinatal period. Results Univariate logistic regression analysis indicated that compared with control group,gestational hypertension,gestational diabetes mellitus,gestational thyroid disease and older age of mother were the risk factors to CH,the difference was statistically significant (P<0.05) and the risk of CH was higher in female babies,preterm babies,post-term babies low birth weight babies,macrosomia,twins,babies with birth defects and infection in cases group than those in control group,the difference was statistically significant (P<0.05). Multivariate logistic analysis showed that older age of mother(OR=2.518,95%CI:1.186-5.347), gestational diabetes mellitus(OR=1.904,95%CI:1.190-3.045),gestational hypothyroidism or hyperthyroidism(OR=12.883 and 30.797,95%CI:2.055-80.751 and 3.309-286.594),preterm birth (OR=4.238,95%CI:1.269-14.155),and post-term birth(OR=12.799,95%CI:1.257-130.327),low birth weight(OR=3.505,95%CI:1.059-11.601),macrosomia(OR=3.733,95%CI:1.415-9.851), twin or multiparous delivery(OR=5.493,95%CI:1.701-17.735),birth defects(OR=3.665,95%CI:1.604-8.371)and fetal distress(OR=3.130,95%CI:1.317-7.440)were the high risk factors to CH (P<0.05). Conclusion CH was correlated with mother’s age,gestational diabetes,gestational thyroid disease as well as neonate’s birth weight and gestational age,foetus number,fetal distress and other complicated birth defects at certain degree. More attention should be paid to perinatal care to reduce risk factors and the incidence of CH.