Objective To find an internal quality controlling method for 17-OHP determination by time-resolved fluoroimmuno-assay .Methods 20 quality control data were collected .The data were analyzed by using L-J method ,instant method and improved instant method .Results were used for the construction of quality control charts .Result The first three quality control data had a great impact on the following judgments of internal quality controlling when instant method was used .The subsequent results might be false acceptance .Improved instant method could effectively reduce the situations of false run-away and false acceptance ,which was suitable for the internal quality control of 17-OHP determination by time-resolved fluoroimmunoassay in newborn screening . Conclusion There are many steps of manual operations in 17-OHP determination of time-resolved fluoroimmunoassay .The details of these operations have great impacts on the experimental results .Thus ,the operations of 17-OHP test should be specified and exe-cuted strictly according to requirement .

Objective To investigate the role of Catbindin-D28k in the kidney on calcium metabolism.Methods VDR/CaBP-D28k double knockout(KO)mice was made.Body weight,diet intake and serum,urinary parameters and length,density of the long bones,histological staining of the tibia of WT,CaBP-D28(-/-),VDR(-/-)and VDR(-/-)/CaBP-D28k(-/-)mice were determined on regular and high Ca-Lac diet.Results On a regular diet,the double KO mice were growth-retarded more and smaller than VDR KO mice.Compared with VDR KO mice,the double KO mice had higher urinary calcium excretion and rachitic skeletal phenotype,which were manifested with higher serum parathyroid hormone levels,lower bone mineral density,and more distorted growth plate with mole osteoid formation in the trabecular region.On high calcium and high lactose diet,blood-ionized calcium levels were normal in both VDR KO and the double KO mice.However,in contrast to VDR KO mice,the skeletal abnormalities were not completely corrected in the double KO mice.Conclusion These results directly demonstrate that CaBP-D28k plays a critical role in maintaining calcium homeostasis and skeletal mineralization and suggest that its caleemic role can be mostly compensated by CaBP-D9k.

Objective To explore three under nasal endoscope surgery treatment the clinical curative effect of maxillary sinus cyst.Methods 95 cases of maxillary sinus cyst patients were chosen,the maxillary sinus were used respectively to open to expand,the nasal passages of maxillary sinus fenestration and maxillary sinus anterior wall fen-estration three types of surgical treatment,postoperative follow -up of 1 year,the clinical curative effect of three kinds of operation method were analyzed.Results The maxillary sinus mouth open expansion of 39 cases during operation,37 cases were cured,2 cases of recurrence;The nasal passages under the maxillary sinus fenestration 27 cases, 26 cases cured,1 case of recurrence;The maxillary sinus anterior wall fenestration 29 cases,29 cases healed;Three kinds of operation cure rate difference had no statistical significance(P >0.05).Conclusion The treatment of max-illary sinus cyst operation should be selected according to the location and size of cysts and whether the various associ-ated withnasal sinuses diseases and other factors determine the.Maxillary sinus cyst neararound the maxillary sinus, sinus cavity lateral wall or with sinus disease can use theostium of maxillary sinus extending open surgery path;near the sinus cavity innerwall and the bottom wall can use windowing of the inferior nasal meatus approach;near the front wall of sinus cavity and large cysts or recurrence can be choice ofmaxillary sinus by fenestration operation path;the purpose is to remove the cystoccurs completely,reduce tissue injury and complications.

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

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

Objective This study investigated high fat diet influence on the changes of vitamin D receptor (VDR) expression and endothelial nitric oxide synthase (eNOS) in apolipoprotein E-deficient(apoE-/-) mice.MethodsApoE-/- mice and C57BLP6J mice were divide into two groups (normal control and high fat diet),high fat diet group were feed high fat feedstuff.Plasma 25-(OH)D levels were determined by competitive protein binding radioimmunity,VDR expression were determined by immunofluorescence and reverse transcription-polymerase chain reaction.The levels of NO and eNOS were determined by nitrate reductase.ResultsCompared with normal control group,high fat diet caused more severe dam-age of atherosclerosis in wild type mice and apoE-/- mice.In apoE-/- mice,the levels of plasma 25-(OH)D were significantly decreased [(26.44±1.28) ng/mL,(22.68±2.07)ng/mL,(17.46±2.22)ng/mL,(15.88±0.97)ng/mL,P＜0.01],the expression of VDR protein and mRNA were significantly increased[VDR :0.244±0.088,0.346±0.132,0.547±0.128,0.768±0.162;VDRmRNA:0.228±0.083,0.375±0.103,0.451±0.117,0.597±0.131,P＜0.01],and the levels of NO and eNOS were significantly increased[NO:(39.74±4.81)μmol/L,(48.1±5.24 )μmol/L,(67.34±6.14 )μmol/L,(86.74±8.05)μmol/L;eNOS:(8.6±0.77 )U/L,(12.28±1.42)U/L,(15.96±0.92)U/L,(18.68±1.15)U/L,P＜0.01].These changes were more significantly in high fat diet group(P＜0.01).ConclusionsThere were abnormalities of plasma 25-(OH)D level,VDR expression and the level of NO and eNOS in apoE-/- mice.These changes were more significantly in high fat diet group.

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

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 assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood